oquat

clinvar: ClinVar Variation

This page summarize the different resources that reference clinvar but use local unique identifiers that do not match the standard pattern of ^\d+$. Of the 2 resources, 1 variants on the standard prefix were found: [‘ClinVar’].

orphanet: Orphanet

Identifiers for this prefix are given incorrectly in orphanet.

external_xref usages_count usages
ClinVar:PHF6 1 http://www.orpha.net/ORDO/Orphanet_117602
ClinVar:SEPTIN9 1 http://www.orpha.net/ORDO/Orphanet_117605
ClinVar:AAAS 1 http://www.orpha.net/ORDO/Orphanet_117613
ClinVar:ABAT 1 http://www.orpha.net/ORDO/Orphanet_117617
ClinVar:ABCA12 1 http://www.orpha.net/ORDO/Orphanet_117620
ClinVar:ABCA4 1 http://www.orpha.net/ORDO/Orphanet_117623
ClinVar:ABCB11 1 http://www.orpha.net/ORDO/Orphanet_117631
ClinVar:ABCB4 1 http://www.orpha.net/ORDO/Orphanet_117639
ClinVar:ABCB7 1 http://www.orpha.net/ORDO/Orphanet_117646
ClinVar:ABCC2 1 http://www.orpha.net/ORDO/Orphanet_117652
ClinVar:ABCC6 1 http://www.orpha.net/ORDO/Orphanet_117658
ClinVar:ABCC8 1 http://www.orpha.net/ORDO/Orphanet_117665
ClinVar:ABCC9 1 http://www.orpha.net/ORDO/Orphanet_117673
ClinVar:ABCD1 1 http://www.orpha.net/ORDO/Orphanet_117677
ClinVar:ABCG5 1 http://www.orpha.net/ORDO/Orphanet_117683
ClinVar:ABCG8 1 http://www.orpha.net/ORDO/Orphanet_117685
ClinVar:ABHD5 1 http://www.orpha.net/ORDO/Orphanet_117687
ClinVar:ABL1 1 http://www.orpha.net/ORDO/Orphanet_117691
ClinVar:ACADM 1 http://www.orpha.net/ORDO/Orphanet_117700
ClinVar:ACADS 1 http://www.orpha.net/ORDO/Orphanet_117705
ClinVar:ACADSB 1 http://www.orpha.net/ORDO/Orphanet_117709
ClinVar:ACADVL 1 http://www.orpha.net/ORDO/Orphanet_117713
ClinVar:ACAN 1 http://www.orpha.net/ORDO/Orphanet_117718
ClinVar:ACAT1 1 http://www.orpha.net/ORDO/Orphanet_117724
ClinVar:ACE 1 http://www.orpha.net/ORDO/Orphanet_117728
ClinVar:ACOX1 1 http://www.orpha.net/ORDO/Orphanet_117738
ClinVar:ACSL4 1 http://www.orpha.net/ORDO/Orphanet_117743
ClinVar:ACTA1 1 http://www.orpha.net/ORDO/Orphanet_117750
ClinVar:ACTC1 1 http://www.orpha.net/ORDO/Orphanet_117753
ClinVar:ACTN4 1 http://www.orpha.net/ORDO/Orphanet_117757
ClinVar:ACVR1 1 http://www.orpha.net/ORDO/Orphanet_117759
ClinVar:ACVRL1 1 http://www.orpha.net/ORDO/Orphanet_117764
ClinVar:ADA 1 http://www.orpha.net/ORDO/Orphanet_117771
ClinVar:ADAMTS10 1 http://www.orpha.net/ORDO/Orphanet_117773
ClinVar:ADAMTS13 1 http://www.orpha.net/ORDO/Orphanet_117776
ClinVar:ADAMTS2 1 http://www.orpha.net/ORDO/Orphanet_117780
ClinVar:PHGDH 1 http://www.orpha.net/ORDO/Orphanet_117785
ClinVar:PHKA1 1 http://www.orpha.net/ORDO/Orphanet_117790
ClinVar:PHKA2 1 http://www.orpha.net/ORDO/Orphanet_117793
ClinVar:PHKB 1 http://www.orpha.net/ORDO/Orphanet_117797
ClinVar:PHOX2A 1 http://www.orpha.net/ORDO/Orphanet_117799
ClinVar:PHOX2B 1 http://www.orpha.net/ORDO/Orphanet_117805
ClinVar:PHYH 1 http://www.orpha.net/ORDO/Orphanet_117810
ClinVar:PIGM 1 http://www.orpha.net/ORDO/Orphanet_117818
ClinVar:PIK3CA 1 http://www.orpha.net/ORDO/Orphanet_117820
ClinVar:PINK1 1 http://www.orpha.net/ORDO/Orphanet_117822
ClinVar:PIKFYVE 1 http://www.orpha.net/ORDO/Orphanet_117825
ClinVar:PITX2 1 http://www.orpha.net/ORDO/Orphanet_117832
ClinVar:PITX3 1 http://www.orpha.net/ORDO/Orphanet_117844
ClinVar:PKD1 1 http://www.orpha.net/ORDO/Orphanet_117846
ClinVar:PKD2 1 http://www.orpha.net/ORDO/Orphanet_117849
ClinVar:PKHD1 1 http://www.orpha.net/ORDO/Orphanet_117853
ClinVar:PKLR 1 http://www.orpha.net/ORDO/Orphanet_117861
ClinVar:PKP1 1 http://www.orpha.net/ORDO/Orphanet_117868
ClinVar:PKP2 1 http://www.orpha.net/ORDO/Orphanet_117871
ClinVar:PLA2G6 1 http://www.orpha.net/ORDO/Orphanet_117873
ClinVar:PLEC 1 http://www.orpha.net/ORDO/Orphanet_117877
ClinVar:PLEKHG4 1 http://www.orpha.net/ORDO/Orphanet_117882
ClinVar:PLG 1 http://www.orpha.net/ORDO/Orphanet_117886
ClinVar:PLOD1 1 http://www.orpha.net/ORDO/Orphanet_117888
ClinVar:PLOD2 1 http://www.orpha.net/ORDO/Orphanet_117892
ClinVar:PLP1 1 http://www.orpha.net/ORDO/Orphanet_117894
ClinVar:PML 1 http://www.orpha.net/ORDO/Orphanet_117898
ClinVar:PMM2 1 http://www.orpha.net/ORDO/Orphanet_117903
ClinVar:PMP22 1 http://www.orpha.net/ORDO/Orphanet_117908
ClinVar:PMS1 1 http://www.orpha.net/ORDO/Orphanet_117913
ClinVar:PMS2 1 http://www.orpha.net/ORDO/Orphanet_117916
ClinVar:POLG 1 http://www.orpha.net/ORDO/Orphanet_117925
ClinVar:POLG2 1 http://www.orpha.net/ORDO/Orphanet_117927
ClinVar:POLH 1 http://www.orpha.net/ORDO/Orphanet_117931
ClinVar:POMGNT1 1 http://www.orpha.net/ORDO/Orphanet_117935
ClinVar:POMT1 1 http://www.orpha.net/ORDO/Orphanet_117939
ClinVar:POMT2 1 http://www.orpha.net/ORDO/Orphanet_117942
ClinVar:POR 1 http://www.orpha.net/ORDO/Orphanet_117944
ClinVar:POU1F1 1 http://www.orpha.net/ORDO/Orphanet_117948
ClinVar:POU3F4 1 http://www.orpha.net/ORDO/Orphanet_117952
ClinVar:POU4F3 1 http://www.orpha.net/ORDO/Orphanet_117957
ClinVar:POU6F2 1 http://www.orpha.net/ORDO/Orphanet_117961
ClinVar:PPARG 1 http://www.orpha.net/ORDO/Orphanet_117964
ClinVar:PPOX 1 http://www.orpha.net/ORDO/Orphanet_117969
ClinVar:PPP2R2B 1 http://www.orpha.net/ORDO/Orphanet_117973
ClinVar:PPT1 1 http://www.orpha.net/ORDO/Orphanet_117978
ClinVar:PQBP1 1 http://www.orpha.net/ORDO/Orphanet_117983
ClinVar:PRCC 1 http://www.orpha.net/ORDO/Orphanet_117989
ClinVar:PRCD 1 http://www.orpha.net/ORDO/Orphanet_117992
ClinVar:PRF1 1 http://www.orpha.net/ORDO/Orphanet_117995
ClinVar:PRG4 1 http://www.orpha.net/ORDO/Orphanet_118000
ClinVar:PRKAG2 1 http://www.orpha.net/ORDO/Orphanet_118006
ClinVar:PRKAR1A 1 http://www.orpha.net/ORDO/Orphanet_118010
ClinVar:PRKCG 1 http://www.orpha.net/ORDO/Orphanet_118014
ClinVar:PRKCSH 1 http://www.orpha.net/ORDO/Orphanet_118020
ClinVar:PRNP 1 http://www.orpha.net/ORDO/Orphanet_118023
ClinVar:PROC 1 http://www.orpha.net/ORDO/Orphanet_118030
ClinVar:PRODH 1 http://www.orpha.net/ORDO/Orphanet_118032
ClinVar:PROK2 1 http://www.orpha.net/ORDO/Orphanet_118039
ClinVar:PROKR2 1 http://www.orpha.net/ORDO/Orphanet_118044
ClinVar:PROP1 1 http://www.orpha.net/ORDO/Orphanet_118051
ClinVar:PROS1 1 http://www.orpha.net/ORDO/Orphanet_118053
ClinVar:PRPF3 1 http://www.orpha.net/ORDO/Orphanet_118056
ClinVar:PRPF31 1 http://www.orpha.net/ORDO/Orphanet_118061
ClinVar:PRPF8 1 http://www.orpha.net/ORDO/Orphanet_118066
ClinVar:PRPH2 1 http://www.orpha.net/ORDO/Orphanet_118070
ClinVar:PRPS1 1 http://www.orpha.net/ORDO/Orphanet_118076
ClinVar:PRSS1 1 http://www.orpha.net/ORDO/Orphanet_118080
ClinVar:PRSS12 1 http://www.orpha.net/ORDO/Orphanet_118083
ClinVar:PRTN3 1 http://www.orpha.net/ORDO/Orphanet_118087
ClinVar:PRX 1 http://www.orpha.net/ORDO/Orphanet_118092
ClinVar:PSAP 1 http://www.orpha.net/ORDO/Orphanet_118095
ClinVar:PSEN1 1 http://www.orpha.net/ORDO/Orphanet_118099
ClinVar:PSEN2 1 http://www.orpha.net/ORDO/Orphanet_118105
ClinVar:PSPH 1 http://www.orpha.net/ORDO/Orphanet_118111
ClinVar:PSTPIP1 1 http://www.orpha.net/ORDO/Orphanet_118114
ClinVar:PTCH1 1 http://www.orpha.net/ORDO/Orphanet_118121
ClinVar:PTCH2 1 http://www.orpha.net/ORDO/Orphanet_118126
ClinVar:PTEN 1 http://www.orpha.net/ORDO/Orphanet_118128
ClinVar:PTF1A 1 http://www.orpha.net/ORDO/Orphanet_118135
ClinVar:PTH 1 http://www.orpha.net/ORDO/Orphanet_118138
ClinVar:PTH1R 1 http://www.orpha.net/ORDO/Orphanet_118140
ClinVar:PTPN11 1 http://www.orpha.net/ORDO/Orphanet_118143
ClinVar:PTPRC 1 http://www.orpha.net/ORDO/Orphanet_118151
ClinVar:PTS 1 http://www.orpha.net/ORDO/Orphanet_118157
ClinVar:PUS1 1 http://www.orpha.net/ORDO/Orphanet_118160
ClinVar:NECTIN1 1 http://www.orpha.net/ORDO/Orphanet_118162
ClinVar: 1 http://www.orpha.net/ORDO/Orphanet_118174
ClinVar:PEX2 1 http://www.orpha.net/ORDO/Orphanet_118174
ClinVar:PYGL 1 http://www.orpha.net/ORDO/Orphanet_118180
ClinVar:PYGM 1 http://www.orpha.net/ORDO/Orphanet_118182
ClinVar:QDPR 1 http://www.orpha.net/ORDO/Orphanet_118184
ClinVar:RAB27A 1 http://www.orpha.net/ORDO/Orphanet_118188
ClinVar:RAB3GAP1 1 http://www.orpha.net/ORDO/Orphanet_118194
ClinVar:RAB3GAP2 1 http://www.orpha.net/ORDO/Orphanet_118200
ClinVar:RAB7A 1 http://www.orpha.net/ORDO/Orphanet_118205
ClinVar:RAD51 1 http://www.orpha.net/ORDO/Orphanet_118208
ClinVar:RAG1 1 http://www.orpha.net/ORDO/Orphanet_118215
ClinVar:RAG2 1 http://www.orpha.net/ORDO/Orphanet_118218
ClinVar:RAI1 1 http://www.orpha.net/ORDO/Orphanet_118220
ClinVar:RAPSN 1 http://www.orpha.net/ORDO/Orphanet_118222
ClinVar:RARA 1 http://www.orpha.net/ORDO/Orphanet_118227
ClinVar:RASA1 1 http://www.orpha.net/ORDO/Orphanet_118231
ClinVar:RB1 1 http://www.orpha.net/ORDO/Orphanet_118239
ClinVar:RD3 1 http://www.orpha.net/ORDO/Orphanet_118246
ClinVar:RDH12 1 http://www.orpha.net/ORDO/Orphanet_118250
ClinVar:RDH5 1 http://www.orpha.net/ORDO/Orphanet_118253
ClinVar:RECQL4 1 http://www.orpha.net/ORDO/Orphanet_118257
ClinVar:REEP1 1 http://www.orpha.net/ORDO/Orphanet_118260
ClinVar:RELN 1 http://www.orpha.net/ORDO/Orphanet_118272
ClinVar:RET 1 http://www.orpha.net/ORDO/Orphanet_118274
ClinVar:RFC2 1 http://www.orpha.net/ORDO/Orphanet_118283
ClinVar:RFX5 1 http://www.orpha.net/ORDO/Orphanet_118286
ClinVar:RFXANK 1 http://www.orpha.net/ORDO/Orphanet_118288
ClinVar:RFXAP 1 http://www.orpha.net/ORDO/Orphanet_118293
ClinVar:RGR 1 http://www.orpha.net/ORDO/Orphanet_118295
ClinVar:RGS9 1 http://www.orpha.net/ORDO/Orphanet_118299
ClinVar:RGS9BP 1 http://www.orpha.net/ORDO/Orphanet_118301
ClinVar:RHAG 1 http://www.orpha.net/ORDO/Orphanet_118307
ClinVar:RHCE 1 http://www.orpha.net/ORDO/Orphanet_118311
ClinVar:RHO 1 http://www.orpha.net/ORDO/Orphanet_118315
ClinVar:RIMS1 1 http://www.orpha.net/ORDO/Orphanet_118319
ClinVar:RLBP1 1 http://www.orpha.net/ORDO/Orphanet_118326
ClinVar:RNASEH2A 1 http://www.orpha.net/ORDO/Orphanet_118329
ClinVar:RNASEH2B 1 http://www.orpha.net/ORDO/Orphanet_118335
ClinVar:RNASEH2C 1 http://www.orpha.net/ORDO/Orphanet_118340
ClinVar:RNASEL 1 http://www.orpha.net/ORDO/Orphanet_118344
ClinVar:RNF139 1 http://www.orpha.net/ORDO/Orphanet_118347
ClinVar:ROBO3 1 http://www.orpha.net/ORDO/Orphanet_118352
ClinVar:ROM1 1 http://www.orpha.net/ORDO/Orphanet_118358
ClinVar:ROR2 1 http://www.orpha.net/ORDO/Orphanet_118362
ClinVar:RP1 1 http://www.orpha.net/ORDO/Orphanet_118367
ClinVar:RP2 1 http://www.orpha.net/ORDO/Orphanet_118370
ClinVar:RP9 1 http://www.orpha.net/ORDO/Orphanet_118373
ClinVar:RPE65 1 http://www.orpha.net/ORDO/Orphanet_118376
ClinVar:RPGR 1 http://www.orpha.net/ORDO/Orphanet_118381
ClinVar:RPGRIP1 1 http://www.orpha.net/ORDO/Orphanet_118388
ClinVar:RPL10 1 http://www.orpha.net/ORDO/Orphanet_118393
ClinVar:RPS19 1 http://www.orpha.net/ORDO/Orphanet_118400
ClinVar:RPS24 1 http://www.orpha.net/ORDO/Orphanet_118403
ClinVar:RPS6KA3 1 http://www.orpha.net/ORDO/Orphanet_118405
ClinVar:RS1 1 http://www.orpha.net/ORDO/Orphanet_118411
ClinVar:RSPO1 1 http://www.orpha.net/ORDO/Orphanet_118415
ClinVar:RSPO4 1 http://www.orpha.net/ORDO/Orphanet_118419
ClinVar:RUNX1 1 http://www.orpha.net/ORDO/Orphanet_118423
ClinVar:RUNX2 1 http://www.orpha.net/ORDO/Orphanet_118429
ClinVar:RYR1 1 http://www.orpha.net/ORDO/Orphanet_118437
ClinVar:RYR2 1 http://www.orpha.net/ORDO/Orphanet_118443
ClinVar:SACS 1 http://www.orpha.net/ORDO/Orphanet_118445
ClinVar:SAG 1 http://www.orpha.net/ORDO/Orphanet_118449
ClinVar:SALL1 1 http://www.orpha.net/ORDO/Orphanet_118451
ClinVar:SALL4 1 http://www.orpha.net/ORDO/Orphanet_118456
ClinVar:SAMD9 1 http://www.orpha.net/ORDO/Orphanet_118460
ClinVar:SAR1B 1 http://www.orpha.net/ORDO/Orphanet_118465
ClinVar:SARDH 1 http://www.orpha.net/ORDO/Orphanet_118468
ClinVar:SBDS 1 http://www.orpha.net/ORDO/Orphanet_118476
ClinVar:SBF2 1 http://www.orpha.net/ORDO/Orphanet_118482
ClinVar:SC5DL 1 http://www.orpha.net/ORDO/Orphanet_118487
ClinVar:SCN1A 1 http://www.orpha.net/ORDO/Orphanet_118489
ClinVar:SCN1B 1 http://www.orpha.net/ORDO/Orphanet_118498
ClinVar:SCN2A 1 http://www.orpha.net/ORDO/Orphanet_118500
ClinVar:SCN4A 1 http://www.orpha.net/ORDO/Orphanet_118507
ClinVar:SCN5A 1 http://www.orpha.net/ORDO/Orphanet_118513
ClinVar:SCN9A 1 http://www.orpha.net/ORDO/Orphanet_118525
ClinVar:SCNN1A 1 http://www.orpha.net/ORDO/Orphanet_118532
ClinVar:SCNN1B 1 http://www.orpha.net/ORDO/Orphanet_118536
ClinVar:SCNN1G 1 http://www.orpha.net/ORDO/Orphanet_118539
ClinVar:SCO1 1 http://www.orpha.net/ORDO/Orphanet_118543
ClinVar:SCO2 1 http://www.orpha.net/ORDO/Orphanet_118546
ClinVar:SDHA 1 http://www.orpha.net/ORDO/Orphanet_118549
ClinVar:SDHB 1 http://www.orpha.net/ORDO/Orphanet_118554
ClinVar:SDHC 1 http://www.orpha.net/ORDO/Orphanet_118558
ClinVar:SDHD 1 http://www.orpha.net/ORDO/Orphanet_118561
ClinVar:SEC23A 1 http://www.orpha.net/ORDO/Orphanet_118565
ClinVar:SEC63 1 http://www.orpha.net/ORDO/Orphanet_118567
ClinVar:SEMA3E 1 http://www.orpha.net/ORDO/Orphanet_118590
ClinVar:SEPN1 1 http://www.orpha.net/ORDO/Orphanet_118596
ClinVar:SERPINA1 1 http://www.orpha.net/ORDO/Orphanet_118602
ClinVar:SERPINC1 1 http://www.orpha.net/ORDO/Orphanet_118609
ClinVar:SERPINE1 1 http://www.orpha.net/ORDO/Orphanet_118613
ClinVar:SERPING1 1 http://www.orpha.net/ORDO/Orphanet_118618
ClinVar:SERPINI1 1 http://www.orpha.net/ORDO/Orphanet_118623
ClinVar:SETX 1 http://www.orpha.net/ORDO/Orphanet_118627
ClinVar:SFTPA1 1 http://www.orpha.net/ORDO/Orphanet_118633
ClinVar:SFTPB 1 http://www.orpha.net/ORDO/Orphanet_118639
ClinVar:SFTPC 1 http://www.orpha.net/ORDO/Orphanet_118643
ClinVar:SGCA 1 http://www.orpha.net/ORDO/Orphanet_118647
ClinVar:SGCB 1 http://www.orpha.net/ORDO/Orphanet_118653
ClinVar:SGCD 1 http://www.orpha.net/ORDO/Orphanet_118658
ClinVar:SGCE 1 http://www.orpha.net/ORDO/Orphanet_118663
ClinVar:SGCG 1 http://www.orpha.net/ORDO/Orphanet_118666
ClinVar:SGSH 1 http://www.orpha.net/ORDO/Orphanet_118674
ClinVar:SH2D1A 1 http://www.orpha.net/ORDO/Orphanet_118679
ClinVar:SH3BP2 1 http://www.orpha.net/ORDO/Orphanet_118689
ClinVar:SH3TC2 1 http://www.orpha.net/ORDO/Orphanet_118693
ClinVar:SHANK3 1 http://www.orpha.net/ORDO/Orphanet_118697
ClinVar:SHH 1 http://www.orpha.net/ORDO/Orphanet_118703
ClinVar:SHOX 1 http://www.orpha.net/ORDO/Orphanet_118707
ClinVar:SHROOM4 1 http://www.orpha.net/ORDO/Orphanet_118713
ClinVar:SI 1 http://www.orpha.net/ORDO/Orphanet_118716
ClinVar:SIL1 1 http://www.orpha.net/ORDO/Orphanet_118718
ClinVar:SIX1 1 http://www.orpha.net/ORDO/Orphanet_118723
ClinVar:SIX3 1 http://www.orpha.net/ORDO/Orphanet_118725
ClinVar:SIX6 1 http://www.orpha.net/ORDO/Orphanet_118728
ClinVar:SLC11A2 1 http://www.orpha.net/ORDO/Orphanet_118732
ClinVar:SLC12A3 1 http://www.orpha.net/ORDO/Orphanet_118740
ClinVar:SLC12A6 1 http://www.orpha.net/ORDO/Orphanet_118742
ClinVar:SLC16A2 1 http://www.orpha.net/ORDO/Orphanet_118746
ClinVar:SLC17A5 1 http://www.orpha.net/ORDO/Orphanet_118753
ClinVar:SLC19A2 1 http://www.orpha.net/ORDO/Orphanet_118762
ClinVar:SLC19A3 1 http://www.orpha.net/ORDO/Orphanet_118766
ClinVar:SLC22A5 1 http://www.orpha.net/ORDO/Orphanet_118781
ClinVar:SLC25A13 1 http://www.orpha.net/ORDO/Orphanet_118786
ClinVar:SLC25A15 1 http://www.orpha.net/ORDO/Orphanet_118789
ClinVar:SLC25A19 1 http://www.orpha.net/ORDO/Orphanet_118794
ClinVar:SLC25A20 1 http://www.orpha.net/ORDO/Orphanet_118799
ClinVar:SLC25A22 1 http://www.orpha.net/ORDO/Orphanet_118803
ClinVar:SLC25A4 1 http://www.orpha.net/ORDO/Orphanet_118807
ClinVar:SLC26A2 1 http://www.orpha.net/ORDO/Orphanet_118813
ClinVar:SLC26A3 1 http://www.orpha.net/ORDO/Orphanet_118817
ClinVar:SLC26A4 1 http://www.orpha.net/ORDO/Orphanet_118821
ClinVar:SLC2A10 1 http://www.orpha.net/ORDO/Orphanet_118825
ClinVar:SLC2A2 1 http://www.orpha.net/ORDO/Orphanet_118828
ClinVar:SLC34A2 1 http://www.orpha.net/ORDO/Orphanet_118831
ClinVar:SLC34A3 1 http://www.orpha.net/ORDO/Orphanet_118834
ClinVar:SLC35C1 1 http://www.orpha.net/ORDO/Orphanet_118838
ClinVar:ATP2A1 1 http://www.orpha.net/ORDO/Orphanet_118840
ClinVar:ATP2A2 1 http://www.orpha.net/ORDO/Orphanet_118844
ClinVar:ATP2C1 1 http://www.orpha.net/ORDO/Orphanet_118849
ClinVar:ATP6AP2 1 http://www.orpha.net/ORDO/Orphanet_118855
ClinVar:ATP6V0A4 1 http://www.orpha.net/ORDO/Orphanet_118861
ClinVar:ATP6V1B1 1 http://www.orpha.net/ORDO/Orphanet_118872
ClinVar:ATP7A 1 http://www.orpha.net/ORDO/Orphanet_118879
ClinVar:ATP7B 1 http://www.orpha.net/ORDO/Orphanet_118882
ClinVar:ATP8B1 1 http://www.orpha.net/ORDO/Orphanet_118885
ClinVar:ATPAF2 1 http://www.orpha.net/ORDO/Orphanet_118892
ClinVar:ATR 1 http://www.orpha.net/ORDO/Orphanet_118896
ClinVar:ATRX 1 http://www.orpha.net/ORDO/Orphanet_118908
ClinVar:ATXN1 1 http://www.orpha.net/ORDO/Orphanet_118913
ClinVar:ATXN10 1 http://www.orpha.net/ORDO/Orphanet_118918
ClinVar:ATXN2 1 http://www.orpha.net/ORDO/Orphanet_118923
ClinVar:ATXN3 1 http://www.orpha.net/ORDO/Orphanet_118928
ClinVar:ATXN7 1 http://www.orpha.net/ORDO/Orphanet_118934
ClinVar:ATXN8 1 http://www.orpha.net/ORDO/Orphanet_118939
ClinVar:AUH 1 http://www.orpha.net/ORDO/Orphanet_118941
ClinVar:AVP 1 http://www.orpha.net/ORDO/Orphanet_118943
ClinVar:AVPR2 1 http://www.orpha.net/ORDO/Orphanet_118947
ClinVar:AXIN2 1 http://www.orpha.net/ORDO/Orphanet_118954
ClinVar:B3GALTL 1 http://www.orpha.net/ORDO/Orphanet_118958
ClinVar:B4GALT1 1 http://www.orpha.net/ORDO/Orphanet_118962
ClinVar:B4GALT7 1 http://www.orpha.net/ORDO/Orphanet_118966
ClinVar:BAZ1B 1 http://www.orpha.net/ORDO/Orphanet_118970
ClinVar:BBS1 1 http://www.orpha.net/ORDO/Orphanet_118975
ClinVar:BBS10 1 http://www.orpha.net/ORDO/Orphanet_118978
ClinVar:BBS2 1 http://www.orpha.net/ORDO/Orphanet_118982
ClinVar:BBS4 1 http://www.orpha.net/ORDO/Orphanet_118985
ClinVar:BBS5 1 http://www.orpha.net/ORDO/Orphanet_118987
ClinVar:BBS7 1 http://www.orpha.net/ORDO/Orphanet_118990
ClinVar:BBS9 1 http://www.orpha.net/ORDO/Orphanet_118994
ClinVar:BCHE 1 http://www.orpha.net/ORDO/Orphanet_118998
ClinVar:BCKDHA 1 http://www.orpha.net/ORDO/Orphanet_119002
ClinVar:BCKDHB 1 http://www.orpha.net/ORDO/Orphanet_119005
ClinVar:BCL2 1 http://www.orpha.net/ORDO/Orphanet_119007
ClinVar:BCOR 1 http://www.orpha.net/ORDO/Orphanet_119012
ClinVar:BCR 1 http://www.orpha.net/ORDO/Orphanet_119016
ClinVar:BCS1L 1 http://www.orpha.net/ORDO/Orphanet_119021
ClinVar:BDNF 1 http://www.orpha.net/ORDO/Orphanet_119027
ClinVar:BEST1 1 http://www.orpha.net/ORDO/Orphanet_119029
ClinVar:BFSP2 1 http://www.orpha.net/ORDO/Orphanet_119034
ClinVar:BLOC1S3 1 http://www.orpha.net/ORDO/Orphanet_119045
ClinVar:BMPR1A 1 http://www.orpha.net/ORDO/Orphanet_119048
ClinVar:BMPR1B 1 http://www.orpha.net/ORDO/Orphanet_119053
ClinVar:BMPR2 1 http://www.orpha.net/ORDO/Orphanet_119057
ClinVar:BPGM 1 http://www.orpha.net/ORDO/Orphanet_119064
ClinVar:BRAF 1 http://www.orpha.net/ORDO/Orphanet_119066
ClinVar:BRCA1 1 http://www.orpha.net/ORDO/Orphanet_119068
ClinVar:BRCA2 1 http://www.orpha.net/ORDO/Orphanet_119072
ClinVar:BRIP1 1 http://www.orpha.net/ORDO/Orphanet_119080
ClinVar:BSCL2 1 http://www.orpha.net/ORDO/Orphanet_119085
ClinVar:BSND 1 http://www.orpha.net/ORDO/Orphanet_119089
ClinVar:BTD 1 http://www.orpha.net/ORDO/Orphanet_119092
ClinVar:BTK 1 http://www.orpha.net/ORDO/Orphanet_119094
ClinVar:BUB1B 1 http://www.orpha.net/ORDO/Orphanet_119101
ClinVar:C2 1 http://www.orpha.net/ORDO/Orphanet_119106
ClinVar:C7orf11 1 http://www.orpha.net/ORDO/Orphanet_119113
ClinVar:CA2 1 http://www.orpha.net/ORDO/Orphanet_119117
ClinVar:CA4 1 http://www.orpha.net/ORDO/Orphanet_119122
ClinVar:CABP4 1 http://www.orpha.net/ORDO/Orphanet_119127
ClinVar:CACNA1A 1 http://www.orpha.net/ORDO/Orphanet_119129
ClinVar:CACNA1C 1 http://www.orpha.net/ORDO/Orphanet_119140
ClinVar:CACNA1F 1 http://www.orpha.net/ORDO/Orphanet_119148
ClinVar:CACNA1S 1 http://www.orpha.net/ORDO/Orphanet_119157
ClinVar:CACNB2 1 http://www.orpha.net/ORDO/Orphanet_119164
ClinVar:CACNB4 1 http://www.orpha.net/ORDO/Orphanet_119168
ClinVar:CAPN3 1 http://www.orpha.net/ORDO/Orphanet_119172
ClinVar:CASP10 1 http://www.orpha.net/ORDO/Orphanet_119179
ClinVar:CASQ2 1 http://www.orpha.net/ORDO/Orphanet_119182
ClinVar:CASR 1 http://www.orpha.net/ORDO/Orphanet_119185
ClinVar:CAT 1 http://www.orpha.net/ORDO/Orphanet_119192
ClinVar:CAV3 1 http://www.orpha.net/ORDO/Orphanet_119194
ClinVar:CBS 1 http://www.orpha.net/ORDO/Orphanet_119199
ClinVar:CC2D1A 1 http://www.orpha.net/ORDO/Orphanet_119202
ClinVar:CCDC6 1 http://www.orpha.net/ORDO/Orphanet_119206
ClinVar:CCM2 1 http://www.orpha.net/ORDO/Orphanet_119213
ClinVar:CCND1 1 http://www.orpha.net/ORDO/Orphanet_119217
ClinVar:CCT5 1 http://www.orpha.net/ORDO/Orphanet_119222
ClinVar:CD19 1 http://www.orpha.net/ORDO/Orphanet_119235
ClinVar:CD40 1 http://www.orpha.net/ORDO/Orphanet_119244
ClinVar:CD40LG 1 http://www.orpha.net/ORDO/Orphanet_119249
ClinVar:CD46 1 http://www.orpha.net/ORDO/Orphanet_119259
ClinVar:CDAN1 1 http://www.orpha.net/ORDO/Orphanet_119266
ClinVar:CDC73 1 http://www.orpha.net/ORDO/Orphanet_119271
ClinVar:CDH1 1 http://www.orpha.net/ORDO/Orphanet_119276
ClinVar:CDH23 1 http://www.orpha.net/ORDO/Orphanet_119281
ClinVar:CDH3 1 http://www.orpha.net/ORDO/Orphanet_119285
ClinVar:CDK4 1 http://www.orpha.net/ORDO/Orphanet_119289
ClinVar:CDK5RAP2 1 http://www.orpha.net/ORDO/Orphanet_119292
ClinVar:CDKL5 1 http://www.orpha.net/ORDO/Orphanet_119297
ClinVar:CDKN1C 1 http://www.orpha.net/ORDO/Orphanet_119300
ClinVar:CDKN2A 1 http://www.orpha.net/ORDO/Orphanet_119306
ClinVar:CDSN 1 http://www.orpha.net/ORDO/Orphanet_119324
ClinVar:CEL 1 http://www.orpha.net/ORDO/Orphanet_119333
ClinVar:CENPJ 1 http://www.orpha.net/ORDO/Orphanet_119336
ClinVar:CEP290 1 http://www.orpha.net/ORDO/Orphanet_119343
ClinVar:CERKL 1 http://www.orpha.net/ORDO/Orphanet_119354
ClinVar:CETP 1 http://www.orpha.net/ORDO/Orphanet_119357
ClinVar:CFC1 1 http://www.orpha.net/ORDO/Orphanet_119359
ClinVar:CFH 1 http://www.orpha.net/ORDO/Orphanet_119363
ClinVar:CFI 1 http://www.orpha.net/ORDO/Orphanet_119371
ClinVar:CFL2 1 http://www.orpha.net/ORDO/Orphanet_119377
ClinVar:CFP 1 http://www.orpha.net/ORDO/Orphanet_119379
ClinVar:CFTR 1 http://www.orpha.net/ORDO/Orphanet_119382
ClinVar:CHAT 1 http://www.orpha.net/ORDO/Orphanet_119387
ClinVar:CHD7 1 http://www.orpha.net/ORDO/Orphanet_119389
ClinVar:CHEK2 1 http://www.orpha.net/ORDO/Orphanet_119394
ClinVar:CHM 1 http://www.orpha.net/ORDO/Orphanet_119402
ClinVar:CHMP2B 1 http://www.orpha.net/ORDO/Orphanet_119407
ClinVar:CHRNA1 1 http://www.orpha.net/ORDO/Orphanet_119411
ClinVar:CHRNA4 1 http://www.orpha.net/ORDO/Orphanet_119414
ClinVar:CHRNB1 1 http://www.orpha.net/ORDO/Orphanet_119419
ClinVar:CHRND 1 http://www.orpha.net/ORDO/Orphanet_119422
ClinVar:CHRNE 1 http://www.orpha.net/ORDO/Orphanet_119425
ClinVar:CHRNG 1 http://www.orpha.net/ORDO/Orphanet_119428
ClinVar:CHST3 1 http://www.orpha.net/ORDO/Orphanet_119431
ClinVar:CHST6 1 http://www.orpha.net/ORDO/Orphanet_119435
ClinVar:CIITA 1 http://www.orpha.net/ORDO/Orphanet_119442
ClinVar:CLCN1 1 http://www.orpha.net/ORDO/Orphanet_119447
ClinVar:CLCN5 1 http://www.orpha.net/ORDO/Orphanet_119453
ClinVar:CLCN7 1 http://www.orpha.net/ORDO/Orphanet_119462
ClinVar:CLCNKB 1 http://www.orpha.net/ORDO/Orphanet_119467
ClinVar:CLDN1 1 http://www.orpha.net/ORDO/Orphanet_119470
ClinVar:SLC37A4 1 http://www.orpha.net/ORDO/Orphanet_119474
ClinVar:SLC39A4 1 http://www.orpha.net/ORDO/Orphanet_119482
ClinVar:SLC40A1 1 http://www.orpha.net/ORDO/Orphanet_119486
ClinVar:ADAR 1 http://www.orpha.net/ORDO/Orphanet_119502
ClinVar:ADSL 1 http://www.orpha.net/ORDO/Orphanet_119507
ClinVar:AFF2 1 http://www.orpha.net/ORDO/Orphanet_119509
ClinVar:AGA 1 http://www.orpha.net/ORDO/Orphanet_119513
ClinVar:AGGF1 1 http://www.orpha.net/ORDO/Orphanet_119516
ClinVar:AGL 1 http://www.orpha.net/ORDO/Orphanet_119523
ClinVar:AGPAT2 1 http://www.orpha.net/ORDO/Orphanet_119525
ClinVar:AGPS 1 http://www.orpha.net/ORDO/Orphanet_119528
ClinVar:AGT 1 http://www.orpha.net/ORDO/Orphanet_119535
ClinVar:AGXT 1 http://www.orpha.net/ORDO/Orphanet_119538
ClinVar:AHCY 1 http://www.orpha.net/ORDO/Orphanet_119546
ClinVar:AHI1 1 http://www.orpha.net/ORDO/Orphanet_119549
ClinVar:AICDA 1 http://www.orpha.net/ORDO/Orphanet_119554
ClinVar:AIPL1 1 http://www.orpha.net/ORDO/Orphanet_119559
ClinVar:AIRE 1 http://www.orpha.net/ORDO/Orphanet_119562
ClinVar:AK1 1 http://www.orpha.net/ORDO/Orphanet_119567
ClinVar:ALAD 1 http://www.orpha.net/ORDO/Orphanet_119569
ClinVar:ALAS2 1 http://www.orpha.net/ORDO/Orphanet_119573
ClinVar:ALB 1 http://www.orpha.net/ORDO/Orphanet_119576
ClinVar:ALDH18A1 1 http://www.orpha.net/ORDO/Orphanet_119578
ClinVar:ALDH3A2 1 http://www.orpha.net/ORDO/Orphanet_119583
ClinVar:ALDH4A1 1 http://www.orpha.net/ORDO/Orphanet_119588
ClinVar:ALDH5A1 1 http://www.orpha.net/ORDO/Orphanet_119592
ClinVar:ALDH7A1 1 http://www.orpha.net/ORDO/Orphanet_119596
ClinVar:ALDOA 1 http://www.orpha.net/ORDO/Orphanet_119599
ClinVar:ALDOB 1 http://www.orpha.net/ORDO/Orphanet_119601
ClinVar:ALG1 1 http://www.orpha.net/ORDO/Orphanet_119603
ClinVar:ALG12 1 http://www.orpha.net/ORDO/Orphanet_119610
ClinVar:ALG2 1 http://www.orpha.net/ORDO/Orphanet_119613
ClinVar:ALG3 1 http://www.orpha.net/ORDO/Orphanet_119618
ClinVar:ALG6 1 http://www.orpha.net/ORDO/Orphanet_119624
ClinVar:ALG8 1 http://www.orpha.net/ORDO/Orphanet_119626
ClinVar:ALG9 1 http://www.orpha.net/ORDO/Orphanet_119629
ClinVar:ALMS1 1 http://www.orpha.net/ORDO/Orphanet_119632
ClinVar:ALOX12B 1 http://www.orpha.net/ORDO/Orphanet_119635
ClinVar:ALOXE3 1 http://www.orpha.net/ORDO/Orphanet_119637
ClinVar:ALPL 1 http://www.orpha.net/ORDO/Orphanet_119640
ClinVar:ALS2 1 http://www.orpha.net/ORDO/Orphanet_119644
ClinVar:ALX4 1 http://www.orpha.net/ORDO/Orphanet_119647
ClinVar:AMELX 1 http://www.orpha.net/ORDO/Orphanet_119653
ClinVar:AMH 1 http://www.orpha.net/ORDO/Orphanet_119657
ClinVar:AMHR2 1 http://www.orpha.net/ORDO/Orphanet_119660
ClinVar:AMMECR1 1 http://www.orpha.net/ORDO/Orphanet_119662
ClinVar:SLC45A2 1 http://www.orpha.net/ORDO/Orphanet_119665
ClinVar:SLC4A1 1 http://www.orpha.net/ORDO/Orphanet_119669
ClinVar:SLC4A11 1 http://www.orpha.net/ORDO/Orphanet_119680
ClinVar:SLC4A4 1 http://www.orpha.net/ORDO/Orphanet_119685
ClinVar:SLC5A1 1 http://www.orpha.net/ORDO/Orphanet_119693
ClinVar:SLC5A2 1 http://www.orpha.net/ORDO/Orphanet_119697
ClinVar:SLC5A5 1 http://www.orpha.net/ORDO/Orphanet_119700
ClinVar:SLC6A19 1 http://www.orpha.net/ORDO/Orphanet_119703
ClinVar:SLC6A8 1 http://www.orpha.net/ORDO/Orphanet_119705
ClinVar:SLC7A7 1 http://www.orpha.net/ORDO/Orphanet_119709
ClinVar:SLC7A9 1 http://www.orpha.net/ORDO/Orphanet_119713
ClinVar:SLURP1 1 http://www.orpha.net/ORDO/Orphanet_119720
ClinVar:SMAD4 1 http://www.orpha.net/ORDO/Orphanet_119727
ClinVar:SMARCAL1 1 http://www.orpha.net/ORDO/Orphanet_119731
ClinVar:SMARCB1 1 http://www.orpha.net/ORDO/Orphanet_119735
ClinVar:SMC1A 1 http://www.orpha.net/ORDO/Orphanet_119743
ClinVar:SMN2 1 http://www.orpha.net/ORDO/Orphanet_119750
ClinVar:SMPD1 1 http://www.orpha.net/ORDO/Orphanet_119754
ClinVar:SNAI2 1 http://www.orpha.net/ORDO/Orphanet_119757
ClinVar:SNAP29 1 http://www.orpha.net/ORDO/Orphanet_119761
ClinVar:SNCA 1 http://www.orpha.net/ORDO/Orphanet_119763
ClinVar:SNRPN 1 http://www.orpha.net/ORDO/Orphanet_119771
ClinVar:SOD1 1 http://www.orpha.net/ORDO/Orphanet_119776
ClinVar:SOS1 1 http://www.orpha.net/ORDO/Orphanet_119781
ClinVar:SOX10 1 http://www.orpha.net/ORDO/Orphanet_119786
ClinVar:SOX18 1 http://www.orpha.net/ORDO/Orphanet_119788
ClinVar:SOX2 1 http://www.orpha.net/ORDO/Orphanet_119790
ClinVar:SOX9 1 http://www.orpha.net/ORDO/Orphanet_119792
ClinVar:SP110 1 http://www.orpha.net/ORDO/Orphanet_119797
ClinVar:SPAST 1 http://www.orpha.net/ORDO/Orphanet_119801
ClinVar:SPG11 1 http://www.orpha.net/ORDO/Orphanet_119807
ClinVar:SPG20 1 http://www.orpha.net/ORDO/Orphanet_119811
ClinVar:SPG21 1 http://www.orpha.net/ORDO/Orphanet_119815
ClinVar:ATL1 1 http://www.orpha.net/ORDO/Orphanet_119821
ClinVar:SPG7 1 http://www.orpha.net/ORDO/Orphanet_119829
ClinVar:SPINK1 1 http://www.orpha.net/ORDO/Orphanet_119834
ClinVar:SPINK5 1 http://www.orpha.net/ORDO/Orphanet_119840
ClinVar:SPR 1 http://www.orpha.net/ORDO/Orphanet_119844
ClinVar:SPTA1 1 http://www.orpha.net/ORDO/Orphanet_119846
ClinVar:SPTB 1 http://www.orpha.net/ORDO/Orphanet_119849
ClinVar:SPTBN2 1 http://www.orpha.net/ORDO/Orphanet_119851
ClinVar:SPTLC1 1 http://www.orpha.net/ORDO/Orphanet_119854
ClinVar:SRD5A2 1 http://www.orpha.net/ORDO/Orphanet_119860
ClinVar:SRPX2 1 http://www.orpha.net/ORDO/Orphanet_119862
ClinVar:SRY 1 http://www.orpha.net/ORDO/Orphanet_119865
ClinVar:SS18 1 http://www.orpha.net/ORDO/Orphanet_119868
ClinVar:SSX1 1 http://www.orpha.net/ORDO/Orphanet_119874
ClinVar:STAR 1 http://www.orpha.net/ORDO/Orphanet_119876
ClinVar:STAT1 1 http://www.orpha.net/ORDO/Orphanet_119879
ClinVar:STAT5B 1 http://www.orpha.net/ORDO/Orphanet_119882
ClinVar:STK11 1 http://www.orpha.net/ORDO/Orphanet_119884
ClinVar:STS 1 http://www.orpha.net/ORDO/Orphanet_119888
ClinVar:STX11 1 http://www.orpha.net/ORDO/Orphanet_119892
ClinVar:SUCLA2 1 http://www.orpha.net/ORDO/Orphanet_119894
ClinVar:SUFU 1 http://www.orpha.net/ORDO/Orphanet_119896
ClinVar:SUMF1 1 http://www.orpha.net/ORDO/Orphanet_119899
ClinVar:SUOX 1 http://www.orpha.net/ORDO/Orphanet_119902
ClinVar:SURF1 1 http://www.orpha.net/ORDO/Orphanet_119904
ClinVar:SYN1 1 http://www.orpha.net/ORDO/Orphanet_119906
ClinVar:T 1 http://www.orpha.net/ORDO/Orphanet_119908
ClinVar:TACSTD2 1 http://www.orpha.net/ORDO/Orphanet_119910
ClinVar:TAL1 1 http://www.orpha.net/ORDO/Orphanet_119916
ClinVar:TAP2 1 http://www.orpha.net/ORDO/Orphanet_119922
ClinVar:TAT 1 http://www.orpha.net/ORDO/Orphanet_119928
ClinVar:TAZ 1 http://www.orpha.net/ORDO/Orphanet_119930
ClinVar:TBCE 1 http://www.orpha.net/ORDO/Orphanet_119938
ClinVar:TBL2 1 http://www.orpha.net/ORDO/Orphanet_119944
ClinVar:TBP 1 http://www.orpha.net/ORDO/Orphanet_119948
ClinVar:TBX1 1 http://www.orpha.net/ORDO/Orphanet_119953
ClinVar:TBX19 1 http://www.orpha.net/ORDO/Orphanet_119955
ClinVar:TBX22 1 http://www.orpha.net/ORDO/Orphanet_119959
ClinVar:TBX3 1 http://www.orpha.net/ORDO/Orphanet_119961
ClinVar:TBX4 1 http://www.orpha.net/ORDO/Orphanet_119966
ClinVar:TBX5 1 http://www.orpha.net/ORDO/Orphanet_119968
ClinVar:TCAP 1 http://www.orpha.net/ORDO/Orphanet_119971
ClinVar:TCIRG1 1 http://www.orpha.net/ORDO/Orphanet_119990
ClinVar:TCN2 1 http://www.orpha.net/ORDO/Orphanet_119999
ClinVar:TCOF1 1 http://www.orpha.net/ORDO/Orphanet_120003
ClinVar:TDP1 1 http://www.orpha.net/ORDO/Orphanet_120006
ClinVar:TEAD1 1 http://www.orpha.net/ORDO/Orphanet_120010
ClinVar:TECTA 1 http://www.orpha.net/ORDO/Orphanet_120015
ClinVar:TEK 1 http://www.orpha.net/ORDO/Orphanet_120020
ClinVar:TF 1 http://www.orpha.net/ORDO/Orphanet_120027
ClinVar:TFAP2B 1 http://www.orpha.net/ORDO/Orphanet_120029
ClinVar:TFB1M 1 http://www.orpha.net/ORDO/Orphanet_120032
ClinVar:TFE3 1 http://www.orpha.net/ORDO/Orphanet_120036
ClinVar:TFG 1 http://www.orpha.net/ORDO/Orphanet_120039
ClinVar:TFR2 1 http://www.orpha.net/ORDO/Orphanet_120043
ClinVar:TGFB1 1 http://www.orpha.net/ORDO/Orphanet_120047
ClinVar:TGFB2 1 http://www.orpha.net/ORDO/Orphanet_120052
ClinVar:TGFB3 1 http://www.orpha.net/ORDO/Orphanet_120054
ClinVar:TGFBI 1 http://www.orpha.net/ORDO/Orphanet_120056
ClinVar:TGFBR1 1 http://www.orpha.net/ORDO/Orphanet_120065
ClinVar:TGFBR2 1 http://www.orpha.net/ORDO/Orphanet_120069
ClinVar:TGIF1 1 http://www.orpha.net/ORDO/Orphanet_120072
ClinVar:TGM1 1 http://www.orpha.net/ORDO/Orphanet_120076
ClinVar:TGM5 1 http://www.orpha.net/ORDO/Orphanet_120083
ClinVar:TH 1 http://www.orpha.net/ORDO/Orphanet_120086
ClinVar:THBD 1 http://www.orpha.net/ORDO/Orphanet_120088
ClinVar:THPO 1 http://www.orpha.net/ORDO/Orphanet_120091
ClinVar:THRB 1 http://www.orpha.net/ORDO/Orphanet_120101
ClinVar:TIMM8A 1 http://www.orpha.net/ORDO/Orphanet_120107
ClinVar:TIMP3 1 http://www.orpha.net/ORDO/Orphanet_120112
ClinVar:TK2 1 http://www.orpha.net/ORDO/Orphanet_120120
ClinVar:TMC1 1 http://www.orpha.net/ORDO/Orphanet_120130
ClinVar:ANO5 1 http://www.orpha.net/ORDO/Orphanet_120137
ClinVar:TMEM67 1 http://www.orpha.net/ORDO/Orphanet_120140
ClinVar:TMIE 1 http://www.orpha.net/ORDO/Orphanet_120145
ClinVar:TMPRSS3 1 http://www.orpha.net/ORDO/Orphanet_120148
ClinVar:TNFRSF11A 1 http://www.orpha.net/ORDO/Orphanet_120160
ClinVar:TNFRSF11B 1 http://www.orpha.net/ORDO/Orphanet_120164
ClinVar:TNFRSF13B 1 http://www.orpha.net/ORDO/Orphanet_120169
ClinVar:TNFRSF1A 1 http://www.orpha.net/ORDO/Orphanet_120173
ClinVar:TNNI2 1 http://www.orpha.net/ORDO/Orphanet_120182
ClinVar:TNNI3 1 http://www.orpha.net/ORDO/Orphanet_120184
ClinVar:TNNT1 1 http://www.orpha.net/ORDO/Orphanet_120188
ClinVar:TNNT2 1 http://www.orpha.net/ORDO/Orphanet_120190
ClinVar:TNNT3 1 http://www.orpha.net/ORDO/Orphanet_120192
ClinVar:TNXB 1 http://www.orpha.net/ORDO/Orphanet_120194
ClinVar:TOR1A 1 http://www.orpha.net/ORDO/Orphanet_120201
ClinVar:TP53 1 http://www.orpha.net/ORDO/Orphanet_120204
ClinVar:TP63 1 http://www.orpha.net/ORDO/Orphanet_120207
ClinVar:TPI1 1 http://www.orpha.net/ORDO/Orphanet_120218
ClinVar:TPM1 1 http://www.orpha.net/ORDO/Orphanet_120220
ClinVar:TPM2 1 http://www.orpha.net/ORDO/Orphanet_120223
ClinVar:TPM3 1 http://www.orpha.net/ORDO/Orphanet_120227
ClinVar:TPO 1 http://www.orpha.net/ORDO/Orphanet_120233
ClinVar:TPP1 1 http://www.orpha.net/ORDO/Orphanet_120236
ClinVar:TPR 1 http://www.orpha.net/ORDO/Orphanet_120239
ClinVar:TRAPPC2 1 http://www.orpha.net/ORDO/Orphanet_120241
ClinVar:TREM2 1 http://www.orpha.net/ORDO/Orphanet_120249
ClinVar:TREX1 1 http://www.orpha.net/ORDO/Orphanet_120255
ClinVar:TRH 1 http://www.orpha.net/ORDO/Orphanet_120259
ClinVar:TRHR 1 http://www.orpha.net/ORDO/Orphanet_120261
ClinVar:TRIM24 1 http://www.orpha.net/ORDO/Orphanet_120263
ClinVar:TRIM27 1 http://www.orpha.net/ORDO/Orphanet_120269
ClinVar:TRIM32 1 http://www.orpha.net/ORDO/Orphanet_120273
ClinVar:TRIM33 1 http://www.orpha.net/ORDO/Orphanet_120279
ClinVar:TRIM37 1 http://www.orpha.net/ORDO/Orphanet_120289
ClinVar:TRMU 1 http://www.orpha.net/ORDO/Orphanet_120293
ClinVar:TRPC6 1 http://www.orpha.net/ORDO/Orphanet_120298
ClinVar:TRPM6 1 http://www.orpha.net/ORDO/Orphanet_120301
ClinVar:TRPS1 1 http://www.orpha.net/ORDO/Orphanet_120307
ClinVar:TSC1 1 http://www.orpha.net/ORDO/Orphanet_120309
ClinVar:TSC2 1 http://www.orpha.net/ORDO/Orphanet_120315
ClinVar:TSHR 1 http://www.orpha.net/ORDO/Orphanet_120320
ClinVar:TTC8 1 http://www.orpha.net/ORDO/Orphanet_120323
ClinVar:TTN 1 http://www.orpha.net/ORDO/Orphanet_120326
ClinVar:TTPA 1 http://www.orpha.net/ORDO/Orphanet_120334
ClinVar:TTR 1 http://www.orpha.net/ORDO/Orphanet_120337
ClinVar:TULP1 1 http://www.orpha.net/ORDO/Orphanet_120341
ClinVar:TWIST1 1 http://www.orpha.net/ORDO/Orphanet_120345
ClinVar:TYR 1 http://www.orpha.net/ORDO/Orphanet_120353
ClinVar:TYROBP 1 http://www.orpha.net/ORDO/Orphanet_120356
ClinVar:TYRP1 1 http://www.orpha.net/ORDO/Orphanet_120361
ClinVar:UBE3A 1 http://www.orpha.net/ORDO/Orphanet_120365
ClinVar:UBR1 1 http://www.orpha.net/ORDO/Orphanet_120373
ClinVar:UCHL1 1 http://www.orpha.net/ORDO/Orphanet_120375
ClinVar:UGT1A1 1 http://www.orpha.net/ORDO/Orphanet_120380
ClinVar:UMOD 1 http://www.orpha.net/ORDO/Orphanet_120412
ClinVar:UMPS 1 http://www.orpha.net/ORDO/Orphanet_120414
ClinVar:UNC13D 1 http://www.orpha.net/ORDO/Orphanet_120416
ClinVar:UNC93B1 1 http://www.orpha.net/ORDO/Orphanet_120419
ClinVar:UNG 1 http://www.orpha.net/ORDO/Orphanet_120421
ClinVar:UPB1 1 http://www.orpha.net/ORDO/Orphanet_120426
ClinVar:UROD 1 http://www.orpha.net/ORDO/Orphanet_120429
ClinVar:UROS 1 http://www.orpha.net/ORDO/Orphanet_120431
ClinVar:USH1C 1 http://www.orpha.net/ORDO/Orphanet_120433
ClinVar:USH1G 1 http://www.orpha.net/ORDO/Orphanet_120442
ClinVar:USH2A 1 http://www.orpha.net/ORDO/Orphanet_120447
ClinVar:USP9Y 1 http://www.orpha.net/ORDO/Orphanet_120450
ClinVar:VAPB 1 http://www.orpha.net/ORDO/Orphanet_120453
ClinVar:VCAN 1 http://www.orpha.net/ORDO/Orphanet_120457
ClinVar:VCP 1 http://www.orpha.net/ORDO/Orphanet_120461
ClinVar:VDR 1 http://www.orpha.net/ORDO/Orphanet_120464
ClinVar:VHL 1 http://www.orpha.net/ORDO/Orphanet_120467
ClinVar:VLDLR 1 http://www.orpha.net/ORDO/Orphanet_120470
ClinVar:VPS13A 1 http://www.orpha.net/ORDO/Orphanet_120472
ClinVar:VPS13B 1 http://www.orpha.net/ORDO/Orphanet_120476
ClinVar:VPS33B 1 http://www.orpha.net/ORDO/Orphanet_120480
ClinVar:VSX1 1 http://www.orpha.net/ORDO/Orphanet_120483
ClinVar:VWF 1 http://www.orpha.net/ORDO/Orphanet_120487
ClinVar:WAS 1 http://www.orpha.net/ORDO/Orphanet_120490
ClinVar:WFS1 1 http://www.orpha.net/ORDO/Orphanet_120514
ClinVar:WHSC1 1 http://www.orpha.net/ORDO/Orphanet_120521
ClinVar:NELFA 1 http://www.orpha.net/ORDO/Orphanet_120525
ClinVar:WISP3 1 http://www.orpha.net/ORDO/Orphanet_120528
ClinVar:WNK1 1 http://www.orpha.net/ORDO/Orphanet_120531
ClinVar:WNK4 1 http://www.orpha.net/ORDO/Orphanet_120534
ClinVar:WNT3 1 http://www.orpha.net/ORDO/Orphanet_120537
ClinVar:WNT4 1 http://www.orpha.net/ORDO/Orphanet_120540
ClinVar:WNT7A 1 http://www.orpha.net/ORDO/Orphanet_120543
ClinVar:WRN 1 http://www.orpha.net/ORDO/Orphanet_120545
ClinVar:WT1 1 http://www.orpha.net/ORDO/Orphanet_120549
ClinVar:WWOX 1 http://www.orpha.net/ORDO/Orphanet_120554
ClinVar:XDH 1 http://www.orpha.net/ORDO/Orphanet_120558
ClinVar:XK 1 http://www.orpha.net/ORDO/Orphanet_120562
ClinVar:XPA 1 http://www.orpha.net/ORDO/Orphanet_120567
ClinVar:XPC 1 http://www.orpha.net/ORDO/Orphanet_120571
ClinVar:ZAP70 1 http://www.orpha.net/ORDO/Orphanet_120579
ClinVar:ZEB1 1 http://www.orpha.net/ORDO/Orphanet_120584
ClinVar:ZEB2 1 http://www.orpha.net/ORDO/Orphanet_120593
ClinVar:ZFPM2 1 http://www.orpha.net/ORDO/Orphanet_120598
ClinVar:ZIC1 1 http://www.orpha.net/ORDO/Orphanet_120606
ClinVar:ZIC2 1 http://www.orpha.net/ORDO/Orphanet_120610
ClinVar:ZIC3 1 http://www.orpha.net/ORDO/Orphanet_120613
ClinVar:ZIC4 1 http://www.orpha.net/ORDO/Orphanet_120618
ClinVar:ZMPSTE24 1 http://www.orpha.net/ORDO/Orphanet_120620
ClinVar:CLDN16 1 http://www.orpha.net/ORDO/Orphanet_120625
ClinVar:CLDN19 1 http://www.orpha.net/ORDO/Orphanet_120628
ClinVar:CLIP2 1 http://www.orpha.net/ORDO/Orphanet_120630
ClinVar:CLN3 1 http://www.orpha.net/ORDO/Orphanet_120638
ClinVar:CLN5 1 http://www.orpha.net/ORDO/Orphanet_120641
ClinVar:CLN6 1 http://www.orpha.net/ORDO/Orphanet_120643
ClinVar:CLN8 1 http://www.orpha.net/ORDO/Orphanet_120648
ClinVar:CLRN1 1 http://www.orpha.net/ORDO/Orphanet_120653
ClinVar:CNBP 1 http://www.orpha.net/ORDO/Orphanet_120657
ClinVar:CNGA1 1 http://www.orpha.net/ORDO/Orphanet_120664
ClinVar:CNGA3 1 http://www.orpha.net/ORDO/Orphanet_120671
ClinVar:CNGB3 1 http://www.orpha.net/ORDO/Orphanet_120678
ClinVar:COCH 1 http://www.orpha.net/ORDO/Orphanet_120681
ClinVar:COG7 1 http://www.orpha.net/ORDO/Orphanet_120686
ClinVar:COL10A1 1 http://www.orpha.net/ORDO/Orphanet_120688
ClinVar:COL11A1 1 http://www.orpha.net/ORDO/Orphanet_120690
ClinVar:COL11A2 1 http://www.orpha.net/ORDO/Orphanet_120693
ClinVar:COL17A1 1 http://www.orpha.net/ORDO/Orphanet_120698
ClinVar:COL18A1 1 http://www.orpha.net/ORDO/Orphanet_120702
ClinVar:COL1A1 1 http://www.orpha.net/ORDO/Orphanet_120704
ClinVar:COL1A2 1 http://www.orpha.net/ORDO/Orphanet_120707
ClinVar:COL2A1 1 http://www.orpha.net/ORDO/Orphanet_120710
ClinVar:COL3A1 1 http://www.orpha.net/ORDO/Orphanet_120713
ClinVar:COL4A1 1 http://www.orpha.net/ORDO/Orphanet_120716
ClinVar:COL4A3 1 http://www.orpha.net/ORDO/Orphanet_120718
ClinVar:COL4A4 1 http://www.orpha.net/ORDO/Orphanet_120720
ClinVar:COL4A5 1 http://www.orpha.net/ORDO/Orphanet_120722
ClinVar:COL4A6 1 http://www.orpha.net/ORDO/Orphanet_120726
ClinVar:COL5A1 1 http://www.orpha.net/ORDO/Orphanet_120728
ClinVar:COL5A2 1 http://www.orpha.net/ORDO/Orphanet_120730
ClinVar:COL6A1 1 http://www.orpha.net/ORDO/Orphanet_120732
ClinVar:COL6A2 1 http://www.orpha.net/ORDO/Orphanet_120734
ClinVar:COL6A3 1 http://www.orpha.net/ORDO/Orphanet_120736
ClinVar:COL7A1 1 http://www.orpha.net/ORDO/Orphanet_120738
ClinVar:COL8A2 1 http://www.orpha.net/ORDO/Orphanet_120743
ClinVar:COL9A1 1 http://www.orpha.net/ORDO/Orphanet_120748
ClinVar:COL9A2 1 http://www.orpha.net/ORDO/Orphanet_120750
ClinVar:COL9A3 1 http://www.orpha.net/ORDO/Orphanet_120754
ClinVar:COLQ 1 http://www.orpha.net/ORDO/Orphanet_120761
ClinVar:COMP 1 http://www.orpha.net/ORDO/Orphanet_120763
ClinVar:COQ2 1 http://www.orpha.net/ORDO/Orphanet_120770
ClinVar:COX10 1 http://www.orpha.net/ORDO/Orphanet_120774
ClinVar:COX15 1 http://www.orpha.net/ORDO/Orphanet_120776
ClinVar:CP 1 http://www.orpha.net/ORDO/Orphanet_120778
ClinVar:CPA6 1 http://www.orpha.net/ORDO/Orphanet_120780
ClinVar:CPOX 1 http://www.orpha.net/ORDO/Orphanet_120783
ClinVar:CPS1 1 http://www.orpha.net/ORDO/Orphanet_120788
ClinVar:CPT1A 1 http://www.orpha.net/ORDO/Orphanet_120790
ClinVar:CPT2 1 http://www.orpha.net/ORDO/Orphanet_120795
ClinVar:CRB1 1 http://www.orpha.net/ORDO/Orphanet_120803
ClinVar:CRBN 1 http://www.orpha.net/ORDO/Orphanet_120811
ClinVar:CREBBP 1 http://www.orpha.net/ORDO/Orphanet_120814
ClinVar:CRELD1 1 http://www.orpha.net/ORDO/Orphanet_120819
ClinVar:CRX 1 http://www.orpha.net/ORDO/Orphanet_120822
ClinVar:CRYAA 1 http://www.orpha.net/ORDO/Orphanet_120828
ClinVar:CRYAB 1 http://www.orpha.net/ORDO/Orphanet_120832
ClinVar:CRYBA1 1 http://www.orpha.net/ORDO/Orphanet_120836
ClinVar:CRYBA4 1 http://www.orpha.net/ORDO/Orphanet_120839
ClinVar:CRYBB2 1 http://www.orpha.net/ORDO/Orphanet_120841
ClinVar:CRYBB3 1 http://www.orpha.net/ORDO/Orphanet_120846
ClinVar:CRYGC 1 http://www.orpha.net/ORDO/Orphanet_120849
ClinVar:CRYGD 1 http://www.orpha.net/ORDO/Orphanet_120852
ClinVar:CSF2RB 1 http://www.orpha.net/ORDO/Orphanet_120855
ClinVar:CSRP3 1 http://www.orpha.net/ORDO/Orphanet_120860
ClinVar:CST3 1 http://www.orpha.net/ORDO/Orphanet_120865
ClinVar:CSTB 1 http://www.orpha.net/ORDO/Orphanet_120867
ClinVar:CTDP1 1 http://www.orpha.net/ORDO/Orphanet_120873
ClinVar:CTH 1 http://www.orpha.net/ORDO/Orphanet_120876
ClinVar:CTLA4 1 http://www.orpha.net/ORDO/Orphanet_120878
ClinVar:CTNNB1 1 http://www.orpha.net/ORDO/Orphanet_120881
ClinVar:CTNS 1 http://www.orpha.net/ORDO/Orphanet_120884
ClinVar:CTSA 1 http://www.orpha.net/ORDO/Orphanet_120888
ClinVar:CTSC 1 http://www.orpha.net/ORDO/Orphanet_120892
ClinVar:CTSK 1 http://www.orpha.net/ORDO/Orphanet_120897
ClinVar:CUBN 1 http://www.orpha.net/ORDO/Orphanet_120903
ClinVar:CUL4B 1 http://www.orpha.net/ORDO/Orphanet_120908
ClinVar:CUL7 1 http://www.orpha.net/ORDO/Orphanet_120910
ClinVar:CXCR4 1 http://www.orpha.net/ORDO/Orphanet_120914
ClinVar:CYB5A 1 http://www.orpha.net/ORDO/Orphanet_120929
ClinVar:CYB5R3 1 http://www.orpha.net/ORDO/Orphanet_120932
ClinVar:CYBB 1 http://www.orpha.net/ORDO/Orphanet_120935
ClinVar:CYLD 1 http://www.orpha.net/ORDO/Orphanet_120940
ClinVar:CYP11A1 1 http://www.orpha.net/ORDO/Orphanet_120945
ClinVar:CYP11B1 1 http://www.orpha.net/ORDO/Orphanet_120949
ClinVar:CYP11B2 1 http://www.orpha.net/ORDO/Orphanet_120955
ClinVar:CYP17A1 1 http://www.orpha.net/ORDO/Orphanet_120963
ClinVar:CYP19A1 1 http://www.orpha.net/ORDO/Orphanet_120969
ClinVar:CYP1B1 1 http://www.orpha.net/ORDO/Orphanet_120977
ClinVar:CYP21A2 1 http://www.orpha.net/ORDO/Orphanet_120981
ClinVar:CYP27A1 1 http://www.orpha.net/ORDO/Orphanet_120989
ClinVar:CYP27B1 1 http://www.orpha.net/ORDO/Orphanet_120994
ClinVar:CYP2R1 1 http://www.orpha.net/ORDO/Orphanet_121000
ClinVar:CYP4V2 1 http://www.orpha.net/ORDO/Orphanet_121002
ClinVar:CYP7B1 1 http://www.orpha.net/ORDO/Orphanet_121005
ClinVar:D2HGDH 1 http://www.orpha.net/ORDO/Orphanet_121007
ClinVar:DAZ1 1 http://www.orpha.net/ORDO/Orphanet_121012
ClinVar:DAZ2 1 http://www.orpha.net/ORDO/Orphanet_121016
ClinVar:DAZ3 1 http://www.orpha.net/ORDO/Orphanet_121018
ClinVar:DAZ4 1 http://www.orpha.net/ORDO/Orphanet_121020
ClinVar:DBH 1 http://www.orpha.net/ORDO/Orphanet_121022
ClinVar:DBT 1 http://www.orpha.net/ORDO/Orphanet_121025
ClinVar:DCLRE1C 1 http://www.orpha.net/ORDO/Orphanet_121027
ClinVar:DCN 1 http://www.orpha.net/ORDO/Orphanet_121034
ClinVar:DCX 1 http://www.orpha.net/ORDO/Orphanet_121038
ClinVar:DDB2 1 http://www.orpha.net/ORDO/Orphanet_121045
ClinVar:DDC 1 http://www.orpha.net/ORDO/Orphanet_121047
ClinVar:DES 1 http://www.orpha.net/ORDO/Orphanet_121053
ClinVar:DFNA5 1 http://www.orpha.net/ORDO/Orphanet_121056
ClinVar:DGUOK 1 http://www.orpha.net/ORDO/Orphanet_121059
ClinVar:DHCR24 1 http://www.orpha.net/ORDO/Orphanet_121062
ClinVar:DHCR7 1 http://www.orpha.net/ORDO/Orphanet_121066
ClinVar:DHH 1 http://www.orpha.net/ORDO/Orphanet_121069
ClinVar:DIAPH1 1 http://www.orpha.net/ORDO/Orphanet_121073
ClinVar:DKC1 1 http://www.orpha.net/ORDO/Orphanet_121091
ClinVar:DLAT 1 http://www.orpha.net/ORDO/Orphanet_121098
ClinVar:DLD 1 http://www.orpha.net/ORDO/Orphanet_121102
ClinVar:DLL3 1 http://www.orpha.net/ORDO/Orphanet_121110
ClinVar:DLX3 1 http://www.orpha.net/ORDO/Orphanet_121113
ClinVar:DMD 1 http://www.orpha.net/ORDO/Orphanet_121117
ClinVar:DMP1 1 http://www.orpha.net/ORDO/Orphanet_121129
ClinVar:DMPK 1 http://www.orpha.net/ORDO/Orphanet_121131
ClinVar:DNAH11 1 http://www.orpha.net/ORDO/Orphanet_121134
ClinVar:DNAH5 1 http://www.orpha.net/ORDO/Orphanet_121137
ClinVar:DNAI1 1 http://www.orpha.net/ORDO/Orphanet_121143
ClinVar:DNM2 1 http://www.orpha.net/ORDO/Orphanet_121147
ClinVar:DNMT3B 1 http://www.orpha.net/ORDO/Orphanet_121150
ClinVar:DOK7 1 http://www.orpha.net/ORDO/Orphanet_121152
ClinVar:DPAGT1 1 http://www.orpha.net/ORDO/Orphanet_121158
ClinVar:DPM1 1 http://www.orpha.net/ORDO/Orphanet_121167
ClinVar:DPYD 1 http://www.orpha.net/ORDO/Orphanet_121171
ClinVar:DPYS 1 http://www.orpha.net/ORDO/Orphanet_121174
ClinVar:DRD2 1 http://www.orpha.net/ORDO/Orphanet_121177
ClinVar:DSC2 1 http://www.orpha.net/ORDO/Orphanet_121185
ClinVar:DSG1 1 http://www.orpha.net/ORDO/Orphanet_121189
ClinVar:DSG2 1 http://www.orpha.net/ORDO/Orphanet_121193
ClinVar:DSP 1 http://www.orpha.net/ORDO/Orphanet_121196
ClinVar:DSPP 1 http://www.orpha.net/ORDO/Orphanet_121202
ClinVar:DTNA 1 http://www.orpha.net/ORDO/Orphanet_121219
ClinVar:DTNBP1 1 http://www.orpha.net/ORDO/Orphanet_121227
ClinVar:DUOX2 1 http://www.orpha.net/ORDO/Orphanet_121233
ClinVar:DYM 1 http://www.orpha.net/ORDO/Orphanet_121241
ClinVar:DYSF 1 http://www.orpha.net/ORDO/Orphanet_121246
ClinVar:EBP 1 http://www.orpha.net/ORDO/Orphanet_121250
ClinVar:ECE1 1 http://www.orpha.net/ORDO/Orphanet_121255
ClinVar:ECM1 1 http://www.orpha.net/ORDO/Orphanet_121261
ClinVar:EDA 1 http://www.orpha.net/ORDO/Orphanet_121263
ClinVar:EDAR 1 http://www.orpha.net/ORDO/Orphanet_121273
ClinVar:EDARADD 1 http://www.orpha.net/ORDO/Orphanet_121282
ClinVar:EDN3 1 http://www.orpha.net/ORDO/Orphanet_121284
ClinVar:EDNRB 1 http://www.orpha.net/ORDO/Orphanet_121287
ClinVar:EFEMP1 1 http://www.orpha.net/ORDO/Orphanet_121292
ClinVar:EFEMP2 1 http://www.orpha.net/ORDO/Orphanet_121299
ClinVar:EFHC1 1 http://www.orpha.net/ORDO/Orphanet_121303
ClinVar:EFNB1 1 http://www.orpha.net/ORDO/Orphanet_121305
ClinVar:EGFR 1 http://www.orpha.net/ORDO/Orphanet_121311
ClinVar:EGR2 1 http://www.orpha.net/ORDO/Orphanet_121314
ClinVar:EIF2AK3 1 http://www.orpha.net/ORDO/Orphanet_121317
ClinVar:EIF2B1 1 http://www.orpha.net/ORDO/Orphanet_121320
ClinVar:EIF2B2 1 http://www.orpha.net/ORDO/Orphanet_121326
ClinVar:EIF2B3 1 http://www.orpha.net/ORDO/Orphanet_121330
ClinVar:EIF2B4 1 http://www.orpha.net/ORDO/Orphanet_121334
ClinVar:EIF2B5 1 http://www.orpha.net/ORDO/Orphanet_121340
ClinVar:AMPD1 1 http://www.orpha.net/ORDO/Orphanet_121344
ClinVar:AMPD3 1 http://www.orpha.net/ORDO/Orphanet_121350
ClinVar:AMT 1 http://www.orpha.net/ORDO/Orphanet_121352
ClinVar:ANK1 1 http://www.orpha.net/ORDO/Orphanet_121356
ClinVar:ANK2 1 http://www.orpha.net/ORDO/Orphanet_121360
ClinVar:ANKH 1 http://www.orpha.net/ORDO/Orphanet_121363
ClinVar:ANTXR2 1 http://www.orpha.net/ORDO/Orphanet_121369
ClinVar:AP3B1 1 http://www.orpha.net/ORDO/Orphanet_121374
ClinVar:APOA1 1 http://www.orpha.net/ORDO/Orphanet_121380
ClinVar:APOA5 1 http://www.orpha.net/ORDO/Orphanet_121382
ClinVar:APOB 1 http://www.orpha.net/ORDO/Orphanet_121386
ClinVar:APOC2 1 http://www.orpha.net/ORDO/Orphanet_121388
ClinVar:APOE 1 http://www.orpha.net/ORDO/Orphanet_121390
ClinVar:APP 1 http://www.orpha.net/ORDO/Orphanet_121393
ClinVar:APRT 1 http://www.orpha.net/ORDO/Orphanet_121400
ClinVar:APTX 1 http://www.orpha.net/ORDO/Orphanet_121402
ClinVar:AQP2 1 http://www.orpha.net/ORDO/Orphanet_121410
ClinVar:ARFGEF2 1 http://www.orpha.net/ORDO/Orphanet_121412
ClinVar:ARG1 1 http://www.orpha.net/ORDO/Orphanet_121415
ClinVar:ARL11 1 http://www.orpha.net/ORDO/Orphanet_121417
ClinVar:ARL6 1 http://www.orpha.net/ORDO/Orphanet_121421
ClinVar:ARSA 1 http://www.orpha.net/ORDO/Orphanet_121427
ClinVar:ARSB 1 http://www.orpha.net/ORDO/Orphanet_121429
ClinVar:ARSE 1 http://www.orpha.net/ORDO/Orphanet_121431
ClinVar:ARVCF 1 http://www.orpha.net/ORDO/Orphanet_121435
ClinVar:ARX 1 http://www.orpha.net/ORDO/Orphanet_121437
ClinVar:ASAH1 1 http://www.orpha.net/ORDO/Orphanet_121449
ClinVar:ASL 1 http://www.orpha.net/ORDO/Orphanet_121455
ClinVar:ASPA 1 http://www.orpha.net/ORDO/Orphanet_121457
ClinVar:ASPM 1 http://www.orpha.net/ORDO/Orphanet_121461
ClinVar:ASS1 1 http://www.orpha.net/ORDO/Orphanet_121468
ClinVar:ATCAY 1 http://www.orpha.net/ORDO/Orphanet_121472
ClinVar:ATM 1 http://www.orpha.net/ORDO/Orphanet_121474
ClinVar:ATN1 1 http://www.orpha.net/ORDO/Orphanet_121482
ClinVar:ATP10A 1 http://www.orpha.net/ORDO/Orphanet_121487
ClinVar:ATP13A2 1 http://www.orpha.net/ORDO/Orphanet_121493
ClinVar:ATP1A2 1 http://www.orpha.net/ORDO/Orphanet_121497
ClinVar:ATP1A3 1 http://www.orpha.net/ORDO/Orphanet_121501
ClinVar:ELANE 1 http://www.orpha.net/ORDO/Orphanet_121511
ClinVar:ELAC2 1 http://www.orpha.net/ORDO/Orphanet_121513
ClinVar:ELN 1 http://www.orpha.net/ORDO/Orphanet_121517
ClinVar:ELOVL4 1 http://www.orpha.net/ORDO/Orphanet_121522
ClinVar:EMD 1 http://www.orpha.net/ORDO/Orphanet_121526
ClinVar:EMX2 1 http://www.orpha.net/ORDO/Orphanet_121529
ClinVar:ENAM 1 http://www.orpha.net/ORDO/Orphanet_121533
ClinVar:ENG 1 http://www.orpha.net/ORDO/Orphanet_121536
ClinVar:ENO3 1 http://www.orpha.net/ORDO/Orphanet_121551
ClinVar:ENPP1 1 http://www.orpha.net/ORDO/Orphanet_121553
ClinVar:EP300 1 http://www.orpha.net/ORDO/Orphanet_121560
ClinVar:EPB41 1 http://www.orpha.net/ORDO/Orphanet_121563
ClinVar:EPHB2 1 http://www.orpha.net/ORDO/Orphanet_121567
ClinVar:EPHX1 1 http://www.orpha.net/ORDO/Orphanet_121574
ClinVar:EPM2A 1 http://www.orpha.net/ORDO/Orphanet_121577
ClinVar:EPOR 1 http://www.orpha.net/ORDO/Orphanet_121581
ClinVar:ERC1 1 http://www.orpha.net/ORDO/Orphanet_121583
ClinVar:ERCC2 1 http://www.orpha.net/ORDO/Orphanet_121590
ClinVar:ERCC4 1 http://www.orpha.net/ORDO/Orphanet_121595
ClinVar:ERCC6 1 http://www.orpha.net/ORDO/Orphanet_121599
ClinVar:ERCC8 1 http://www.orpha.net/ORDO/Orphanet_121604
ClinVar:ERG 1 http://www.orpha.net/ORDO/Orphanet_121608
ClinVar:ESCO2 1 http://www.orpha.net/ORDO/Orphanet_121610
ClinVar:ESR1 1 http://www.orpha.net/ORDO/Orphanet_121614
ClinVar:ETFA 1 http://www.orpha.net/ORDO/Orphanet_121619
ClinVar:ETFB 1 http://www.orpha.net/ORDO/Orphanet_121624
ClinVar:ETFDH 1 http://www.orpha.net/ORDO/Orphanet_121626
ClinVar:ETHE1 1 http://www.orpha.net/ORDO/Orphanet_121629
ClinVar:ETV1 1 http://www.orpha.net/ORDO/Orphanet_121633
ClinVar:EVC 1 http://www.orpha.net/ORDO/Orphanet_121636
ClinVar:EVC2 1 http://www.orpha.net/ORDO/Orphanet_121639
ClinVar:EWSR1 1 http://www.orpha.net/ORDO/Orphanet_121642
ClinVar:EXT1 1 http://www.orpha.net/ORDO/Orphanet_121645
ClinVar:EXT2 1 http://www.orpha.net/ORDO/Orphanet_121648
ClinVar:EYA1 1 http://www.orpha.net/ORDO/Orphanet_121651
ClinVar:EYA4 1 http://www.orpha.net/ORDO/Orphanet_121654
ClinVar:F10 1 http://www.orpha.net/ORDO/Orphanet_121658
ClinVar:F11 1 http://www.orpha.net/ORDO/Orphanet_121660
ClinVar:F12 1 http://www.orpha.net/ORDO/Orphanet_121663
ClinVar:F13A1 1 http://www.orpha.net/ORDO/Orphanet_121665
ClinVar:F13B 1 http://www.orpha.net/ORDO/Orphanet_121668
ClinVar:F2 1 http://www.orpha.net/ORDO/Orphanet_121671
ClinVar:F5 1 http://www.orpha.net/ORDO/Orphanet_121673
ClinVar:F7 1 http://www.orpha.net/ORDO/Orphanet_121675
ClinVar:F8 1 http://www.orpha.net/ORDO/Orphanet_121677
ClinVar:F9 1 http://www.orpha.net/ORDO/Orphanet_121683
ClinVar:FAH 1 http://www.orpha.net/ORDO/Orphanet_121686
ClinVar:FAM126A 1 http://www.orpha.net/ORDO/Orphanet_121688
ClinVar:FANCA 1 http://www.orpha.net/ORDO/Orphanet_121693
ClinVar:FANCB 1 http://www.orpha.net/ORDO/Orphanet_121700
ClinVar:FANCC 1 http://www.orpha.net/ORDO/Orphanet_121705
ClinVar:FANCD2 1 http://www.orpha.net/ORDO/Orphanet_121709
ClinVar:FANCE 1 http://www.orpha.net/ORDO/Orphanet_121715
ClinVar:FANCF 1 http://www.orpha.net/ORDO/Orphanet_121719
ClinVar:FANCG 1 http://www.orpha.net/ORDO/Orphanet_121722
ClinVar:FANCL 1 http://www.orpha.net/ORDO/Orphanet_121726
ClinVar:FANCM 1 http://www.orpha.net/ORDO/Orphanet_121730
ClinVar:FAS 1 http://www.orpha.net/ORDO/Orphanet_121733
ClinVar:FASLG 1 http://www.orpha.net/ORDO/Orphanet_121740
ClinVar:FBLN5 1 http://www.orpha.net/ORDO/Orphanet_121746
ClinVar:FBN1 1 http://www.orpha.net/ORDO/Orphanet_121752
ClinVar:FBN2 1 http://www.orpha.net/ORDO/Orphanet_121760
ClinVar:FBP1 1 http://www.orpha.net/ORDO/Orphanet_121763
ClinVar:FKTN 1 http://www.orpha.net/ORDO/Orphanet_121775
ClinVar:FECH 1 http://www.orpha.net/ORDO/Orphanet_121784
ClinVar:FGA 1 http://www.orpha.net/ORDO/Orphanet_121786
ClinVar:FGB 1 http://www.orpha.net/ORDO/Orphanet_121788
ClinVar:FGD1 1 http://www.orpha.net/ORDO/Orphanet_121790
ClinVar:FGF10 1 http://www.orpha.net/ORDO/Orphanet_121794
ClinVar:FGF14 1 http://www.orpha.net/ORDO/Orphanet_121796
ClinVar:FGF23 1 http://www.orpha.net/ORDO/Orphanet_121800
ClinVar:FGFR1 1 http://www.orpha.net/ORDO/Orphanet_121802
ClinVar:FGFR3 1 http://www.orpha.net/ORDO/Orphanet_121815
ClinVar:FGG 1 http://www.orpha.net/ORDO/Orphanet_121821
ClinVar:FH 1 http://www.orpha.net/ORDO/Orphanet_121823
ClinVar:FHIT 1 http://www.orpha.net/ORDO/Orphanet_121826
ClinVar:FIP1L1 1 http://www.orpha.net/ORDO/Orphanet_121830
ClinVar:FKRP 1 http://www.orpha.net/ORDO/Orphanet_121835
ClinVar:FLCN 1 http://www.orpha.net/ORDO/Orphanet_121839
ClinVar:FLG 1 http://www.orpha.net/ORDO/Orphanet_121844
ClinVar:FLI1 1 http://www.orpha.net/ORDO/Orphanet_121846
ClinVar:FLII 1 http://www.orpha.net/ORDO/Orphanet_121850
ClinVar:FLNA 1 http://www.orpha.net/ORDO/Orphanet_121853
ClinVar:FLNB 1 http://www.orpha.net/ORDO/Orphanet_121860
ClinVar:FLNC 1 http://www.orpha.net/ORDO/Orphanet_121867
ClinVar:FLT4 1 http://www.orpha.net/ORDO/Orphanet_121872
ClinVar:FMO3 1 http://www.orpha.net/ORDO/Orphanet_121876
ClinVar:FMR1 1 http://www.orpha.net/ORDO/Orphanet_121878
ClinVar:FOXC1 1 http://www.orpha.net/ORDO/Orphanet_121883
ClinVar:FOXC2 1 http://www.orpha.net/ORDO/Orphanet_121891
ClinVar:FOXE1 1 http://www.orpha.net/ORDO/Orphanet_121895
ClinVar:FOXE3 1 http://www.orpha.net/ORDO/Orphanet_121900
ClinVar:FOXL2 1 http://www.orpha.net/ORDO/Orphanet_121904
ClinVar:FOXO1 1 http://www.orpha.net/ORDO/Orphanet_121908
ClinVar:FOXP3 1 http://www.orpha.net/ORDO/Orphanet_121913
ClinVar:FRAS1 1 http://www.orpha.net/ORDO/Orphanet_121922
ClinVar:FREM2 1 http://www.orpha.net/ORDO/Orphanet_121927
ClinVar:FRG1 1 http://www.orpha.net/ORDO/Orphanet_121930
ClinVar:FSCN2 1 http://www.orpha.net/ORDO/Orphanet_121938
ClinVar:FSHB 1 http://www.orpha.net/ORDO/Orphanet_121941
ClinVar:FSHR 1 http://www.orpha.net/ORDO/Orphanet_121943
ClinVar:FTCD 1 http://www.orpha.net/ORDO/Orphanet_121951
ClinVar:FTL 1 http://www.orpha.net/ORDO/Orphanet_121953
ClinVar:FTSJ1 1 http://www.orpha.net/ORDO/Orphanet_121955
ClinVar:FUCA1 1 http://www.orpha.net/ORDO/Orphanet_121963
ClinVar:FXN 1 http://www.orpha.net/ORDO/Orphanet_121965
ClinVar:FXYD2 1 http://www.orpha.net/ORDO/Orphanet_121972
ClinVar:FZD4 1 http://www.orpha.net/ORDO/Orphanet_121977
ClinVar:G6PC 1 http://www.orpha.net/ORDO/Orphanet_121980
ClinVar:G6PD 1 http://www.orpha.net/ORDO/Orphanet_121984
ClinVar:GAA 1 http://www.orpha.net/ORDO/Orphanet_121987
ClinVar:GABRA1 1 http://www.orpha.net/ORDO/Orphanet_121989
ClinVar:GABRD 1 http://www.orpha.net/ORDO/Orphanet_121991
ClinVar:GABRG2 1 http://www.orpha.net/ORDO/Orphanet_121993
ClinVar:GALC 1 http://www.orpha.net/ORDO/Orphanet_121995
ClinVar:GALE 1 http://www.orpha.net/ORDO/Orphanet_121997
ClinVar:GALK1 1 http://www.orpha.net/ORDO/Orphanet_121999
ClinVar:GALNS 1 http://www.orpha.net/ORDO/Orphanet_122002
ClinVar:GALNT3 1 http://www.orpha.net/ORDO/Orphanet_122006
ClinVar:GALT 1 http://www.orpha.net/ORDO/Orphanet_122009
ClinVar:GAMT 1 http://www.orpha.net/ORDO/Orphanet_122011
ClinVar:GAN 1 http://www.orpha.net/ORDO/Orphanet_122015
ClinVar:GARS 1 http://www.orpha.net/ORDO/Orphanet_122022
ClinVar:GATA1 1 http://www.orpha.net/ORDO/Orphanet_122028
ClinVar:GATA3 1 http://www.orpha.net/ORDO/Orphanet_122033
ClinVar:GATA4 1 http://www.orpha.net/ORDO/Orphanet_122035
ClinVar:GATM 1 http://www.orpha.net/ORDO/Orphanet_122037
ClinVar:GBA 1 http://www.orpha.net/ORDO/Orphanet_122039
ClinVar:GBE1 1 http://www.orpha.net/ORDO/Orphanet_122043
ClinVar:GCDH 1 http://www.orpha.net/ORDO/Orphanet_122045
ClinVar:GCH1 1 http://www.orpha.net/ORDO/Orphanet_122048
ClinVar:GCK 1 http://www.orpha.net/ORDO/Orphanet_122053
ClinVar:GCLC 1 http://www.orpha.net/ORDO/Orphanet_122057
ClinVar:GCSH 1 http://www.orpha.net/ORDO/Orphanet_122062
ClinVar:GDAP1 1 http://www.orpha.net/ORDO/Orphanet_122064
ClinVar:GDF5 1 http://www.orpha.net/ORDO/Orphanet_122066
ClinVar:GDI1 1 http://www.orpha.net/ORDO/Orphanet_122069
ClinVar:GDNF 1 http://www.orpha.net/ORDO/Orphanet_122076
ClinVar:GFAP 1 http://www.orpha.net/ORDO/Orphanet_122078
ClinVar:GFI1 1 http://www.orpha.net/ORDO/Orphanet_122080
ClinVar:GGCX 1 http://www.orpha.net/ORDO/Orphanet_122083
ClinVar:GH1 1 http://www.orpha.net/ORDO/Orphanet_122092
ClinVar:GHR 1 http://www.orpha.net/ORDO/Orphanet_122095
ClinVar:GHRHR 1 http://www.orpha.net/ORDO/Orphanet_122097
ClinVar:GIF 1 http://www.orpha.net/ORDO/Orphanet_122099
ClinVar:GJA1 1 http://www.orpha.net/ORDO/Orphanet_122102
ClinVar:GJC2 1 http://www.orpha.net/ORDO/Orphanet_122110
ClinVar:GJA3 1 http://www.orpha.net/ORDO/Orphanet_122114
ClinVar:GJA8 1 http://www.orpha.net/ORDO/Orphanet_122118
ClinVar:GJB1 1 http://www.orpha.net/ORDO/Orphanet_122124
ClinVar:GJB2 1 http://www.orpha.net/ORDO/Orphanet_122129
ClinVar:GJB3 1 http://www.orpha.net/ORDO/Orphanet_122135
ClinVar:GJB4 1 http://www.orpha.net/ORDO/Orphanet_122139
ClinVar:GJB6 1 http://www.orpha.net/ORDO/Orphanet_122142
ClinVar:GK 1 http://www.orpha.net/ORDO/Orphanet_122149
ClinVar:GLA 1 http://www.orpha.net/ORDO/Orphanet_122153
ClinVar:GLB1 1 http://www.orpha.net/ORDO/Orphanet_122156
ClinVar:GLDC 1 http://www.orpha.net/ORDO/Orphanet_122160
ClinVar:GLI3 1 http://www.orpha.net/ORDO/Orphanet_122167
ClinVar:GLMN 1 http://www.orpha.net/ORDO/Orphanet_122172
ClinVar:GLRA1 1 http://www.orpha.net/ORDO/Orphanet_122179
ClinVar:GLRB 1 http://www.orpha.net/ORDO/Orphanet_122182
ClinVar:GLUD1 1 http://www.orpha.net/ORDO/Orphanet_122188
ClinVar:GM2A 1 http://www.orpha.net/ORDO/Orphanet_122192
ClinVar:GNAS 1 http://www.orpha.net/ORDO/Orphanet_122194
ClinVar:GNAT1 1 http://www.orpha.net/ORDO/Orphanet_122202
ClinVar:GNAT2 1 http://www.orpha.net/ORDO/Orphanet_122204
ClinVar:GNE 1 http://www.orpha.net/ORDO/Orphanet_122207
ClinVar:GNPAT 1 http://www.orpha.net/ORDO/Orphanet_122211
ClinVar:GNPTAB 1 http://www.orpha.net/ORDO/Orphanet_122216
ClinVar:GNPTG 1 http://www.orpha.net/ORDO/Orphanet_122221
ClinVar:GNRHR 1 http://www.orpha.net/ORDO/Orphanet_122226
ClinVar:GNS 1 http://www.orpha.net/ORDO/Orphanet_122230
ClinVar:GOLGA5 1 http://www.orpha.net/ORDO/Orphanet_122232
ClinVar:GP1BA 1 http://www.orpha.net/ORDO/Orphanet_122237
ClinVar:GP1BB 1 http://www.orpha.net/ORDO/Orphanet_122241
ClinVar:GP9 1 http://www.orpha.net/ORDO/Orphanet_122244
ClinVar:GPC3 1 http://www.orpha.net/ORDO/Orphanet_122248
ClinVar:GPHN 1 http://www.orpha.net/ORDO/Orphanet_122256
ClinVar:GPI 1 http://www.orpha.net/ORDO/Orphanet_122259
ClinVar:GPR143 1 http://www.orpha.net/ORDO/Orphanet_122263
ClinVar:GPR56 1 http://www.orpha.net/ORDO/Orphanet_122266
ClinVar:ADGRV1 1 http://www.orpha.net/ORDO/Orphanet_122270
ClinVar:GRHPR 1 http://www.orpha.net/ORDO/Orphanet_122278
ClinVar:GRIA3 1 http://www.orpha.net/ORDO/Orphanet_122282
ClinVar:GRK1 1 http://www.orpha.net/ORDO/Orphanet_122286
ClinVar:GRM6 1 http://www.orpha.net/ORDO/Orphanet_122291
ClinVar:GSN 1 http://www.orpha.net/ORDO/Orphanet_122296
ClinVar:GSR 1 http://www.orpha.net/ORDO/Orphanet_122298
ClinVar:GSS 1 http://www.orpha.net/ORDO/Orphanet_122300
ClinVar:GTF2H5 1 http://www.orpha.net/ORDO/Orphanet_122302
ClinVar:GTF2I 1 http://www.orpha.net/ORDO/Orphanet_122310
ClinVar:GTF2IRD1 1 http://www.orpha.net/ORDO/Orphanet_122319
ClinVar:GUCA1A 1 http://www.orpha.net/ORDO/Orphanet_122333
ClinVar:GUCY2D 1 http://www.orpha.net/ORDO/Orphanet_122340
ClinVar:GUSB 1 http://www.orpha.net/ORDO/Orphanet_122352
ClinVar:GYS2 1 http://www.orpha.net/ORDO/Orphanet_122354
ClinVar:HADH 1 http://www.orpha.net/ORDO/Orphanet_122356
ClinVar:HAL 1 http://www.orpha.net/ORDO/Orphanet_122361
ClinVar:HAMP 1 http://www.orpha.net/ORDO/Orphanet_122364
ClinVar:HAX1 1 http://www.orpha.net/ORDO/Orphanet_122370
ClinVar:HBA2 1 http://www.orpha.net/ORDO/Orphanet_122374
ClinVar:HBB 1 http://www.orpha.net/ORDO/Orphanet_122376
ClinVar:HCCS 1 http://www.orpha.net/ORDO/Orphanet_122378
ClinVar:HCN4 1 http://www.orpha.net/ORDO/Orphanet_122381
ClinVar:HCRT 1 http://www.orpha.net/ORDO/Orphanet_122383
ClinVar:HTT 1 http://www.orpha.net/ORDO/Orphanet_122387
ClinVar:HESX1 1 http://www.orpha.net/ORDO/Orphanet_122398
ClinVar:HEXA 1 http://www.orpha.net/ORDO/Orphanet_122402
ClinVar:HEXB 1 http://www.orpha.net/ORDO/Orphanet_122404
ClinVar:HGD 1 http://www.orpha.net/ORDO/Orphanet_122408
ClinVar:HGSNAT 1 http://www.orpha.net/ORDO/Orphanet_122412
ClinVar:HIC1 1 http://www.orpha.net/ORDO/Orphanet_122417
ClinVar:HK1 1 http://www.orpha.net/ORDO/Orphanet_122420
ClinVar:HLA-B 1 http://www.orpha.net/ORDO/Orphanet_122422
ClinVar:HLA-DRA 1 http://www.orpha.net/ORDO/Orphanet_122424
ClinVar:HLA-DRB1 1 http://www.orpha.net/ORDO/Orphanet_122427
ClinVar:HLCS 1 http://www.orpha.net/ORDO/Orphanet_122430
ClinVar:HMBS 1 http://www.orpha.net/ORDO/Orphanet_122438
ClinVar:HMGCL 1 http://www.orpha.net/ORDO/Orphanet_122447
ClinVar:HMGCS2 1 http://www.orpha.net/ORDO/Orphanet_122453
ClinVar:HNF4A 1 http://www.orpha.net/ORDO/Orphanet_122455
ClinVar:HOXA13 1 http://www.orpha.net/ORDO/Orphanet_122462
ClinVar:HOXD13 1 http://www.orpha.net/ORDO/Orphanet_122466
ClinVar:HPD 1 http://www.orpha.net/ORDO/Orphanet_122470
ClinVar:HPRT1 1 http://www.orpha.net/ORDO/Orphanet_122476
ClinVar:HPS1 1 http://www.orpha.net/ORDO/Orphanet_122480
ClinVar:HPS3 1 http://www.orpha.net/ORDO/Orphanet_122483
ClinVar:HPS4 1 http://www.orpha.net/ORDO/Orphanet_122486
ClinVar:HPS5 1 http://www.orpha.net/ORDO/Orphanet_122490
ClinVar:HPS6 1 http://www.orpha.net/ORDO/Orphanet_122492
ClinVar:HR 1 http://www.orpha.net/ORDO/Orphanet_122495
ClinVar:HRAS 1 http://www.orpha.net/ORDO/Orphanet_122499
ClinVar:HSD11B2 1 http://www.orpha.net/ORDO/Orphanet_122502
ClinVar:HSD17B10 1 http://www.orpha.net/ORDO/Orphanet_122504
ClinVar:HSD17B3 1 http://www.orpha.net/ORDO/Orphanet_122511
ClinVar:HSD17B4 1 http://www.orpha.net/ORDO/Orphanet_122513
ClinVar:HSD3B2 1 http://www.orpha.net/ORDO/Orphanet_122515
ClinVar:HSD3B7 1 http://www.orpha.net/ORDO/Orphanet_122517
ClinVar:HSF4 1 http://www.orpha.net/ORDO/Orphanet_122520
ClinVar:HSPB1 1 http://www.orpha.net/ORDO/Orphanet_122526
ClinVar:HSPB8 1 http://www.orpha.net/ORDO/Orphanet_122532
ClinVar:HSPBAP1 1 http://www.orpha.net/ORDO/Orphanet_122538
ClinVar:HSPD1 1 http://www.orpha.net/ORDO/Orphanet_122542
ClinVar:HSPG2 1 http://www.orpha.net/ORDO/Orphanet_122547
ClinVar:HTRA2 1 http://www.orpha.net/ORDO/Orphanet_122552
ClinVar:HYAL1 1 http://www.orpha.net/ORDO/Orphanet_122556
ClinVar:HYLS1 1 http://www.orpha.net/ORDO/Orphanet_122562
ClinVar:ICOS 1 http://www.orpha.net/ORDO/Orphanet_122565
ClinVar:IDS 1 http://www.orpha.net/ORDO/Orphanet_122569
ClinVar:IDUA 1 http://www.orpha.net/ORDO/Orphanet_122572
ClinVar:IFNG 1 http://www.orpha.net/ORDO/Orphanet_122574
ClinVar:IFNGR1 1 http://www.orpha.net/ORDO/Orphanet_122576
ClinVar:IFNGR2 1 http://www.orpha.net/ORDO/Orphanet_122580
ClinVar:IGBP1 1 http://www.orpha.net/ORDO/Orphanet_122584
ClinVar:IGF1 1 http://www.orpha.net/ORDO/Orphanet_122587
ClinVar:IGHG1 1 http://www.orpha.net/ORDO/Orphanet_122589
ClinVar:IGHM 1 http://www.orpha.net/ORDO/Orphanet_122591
ClinVar:IGHMBP2 1 http://www.orpha.net/ORDO/Orphanet_122593
ClinVar:IGLL1 1 http://www.orpha.net/ORDO/Orphanet_122598
ClinVar:IHH 1 http://www.orpha.net/ORDO/Orphanet_122605
ClinVar:IKBKAP 1 http://www.orpha.net/ORDO/Orphanet_122607
ClinVar:IKBKG 1 http://www.orpha.net/ORDO/Orphanet_122614
ClinVar:IL10 1 http://www.orpha.net/ORDO/Orphanet_122623
ClinVar:IL12B 1 http://www.orpha.net/ORDO/Orphanet_122629
ClinVar:IL12RB1 1 http://www.orpha.net/ORDO/Orphanet_122634
ClinVar:IL23R 1 http://www.orpha.net/ORDO/Orphanet_122638
ClinVar:IL2RG 1 http://www.orpha.net/ORDO/Orphanet_122641
ClinVar:IMPDH1 1 http://www.orpha.net/ORDO/Orphanet_122649
ClinVar:ING1 1 http://www.orpha.net/ORDO/Orphanet_122654
ClinVar:INSR 1 http://www.orpha.net/ORDO/Orphanet_122664
ClinVar:INVS 1 http://www.orpha.net/ORDO/Orphanet_122667
ClinVar:IQCB1 1 http://www.orpha.net/ORDO/Orphanet_122670
ClinVar:IRAK4 1 http://www.orpha.net/ORDO/Orphanet_122674
ClinVar:IRF6 1 http://www.orpha.net/ORDO/Orphanet_122684
ClinVar:ITGA2B 1 http://www.orpha.net/ORDO/Orphanet_122690
ClinVar:ITGA6 1 http://www.orpha.net/ORDO/Orphanet_122695
ClinVar:ITGB2 1 http://www.orpha.net/ORDO/Orphanet_122698
ClinVar:ITGB3 1 http://www.orpha.net/ORDO/Orphanet_122704
ClinVar:ITGB4 1 http://www.orpha.net/ORDO/Orphanet_122708
ClinVar:ITM2B 1 http://www.orpha.net/ORDO/Orphanet_122711
ClinVar:IVD 1 http://www.orpha.net/ORDO/Orphanet_122716
ClinVar:JAG1 1 http://www.orpha.net/ORDO/Orphanet_122719
ClinVar:JAK2 1 http://www.orpha.net/ORDO/Orphanet_122727
ClinVar:JAK3 1 http://www.orpha.net/ORDO/Orphanet_122729
ClinVar:KDM5C 1 http://www.orpha.net/ORDO/Orphanet_122732
ClinVar:JPH3 1 http://www.orpha.net/ORDO/Orphanet_122737
ClinVar:JUP 1 http://www.orpha.net/ORDO/Orphanet_122744
ClinVar:KAL1 1 http://www.orpha.net/ORDO/Orphanet_122751
ClinVar:KCNA1 1 http://www.orpha.net/ORDO/Orphanet_122756
ClinVar:KCNE1 1 http://www.orpha.net/ORDO/Orphanet_122763
ClinVar:KCNE1L 1 http://www.orpha.net/ORDO/Orphanet_122768
ClinVar:KCNE2 1 http://www.orpha.net/ORDO/Orphanet_122770
ClinVar:KCNE3 1 http://www.orpha.net/ORDO/Orphanet_122773
ClinVar:KCNH2 1 http://www.orpha.net/ORDO/Orphanet_122777
ClinVar:KCNJ1 1 http://www.orpha.net/ORDO/Orphanet_122783
ClinVar:KCNJ11 1 http://www.orpha.net/ORDO/Orphanet_122787
ClinVar:KCNJ2 1 http://www.orpha.net/ORDO/Orphanet_122791
ClinVar:KCNMA1 1 http://www.orpha.net/ORDO/Orphanet_122795
ClinVar:KCNQ1 1 http://www.orpha.net/ORDO/Orphanet_122800
ClinVar:KCNQ2 1 http://www.orpha.net/ORDO/Orphanet_122808
ClinVar:KCNQ3 1 http://www.orpha.net/ORDO/Orphanet_122817
ClinVar:KCNQ4 1 http://www.orpha.net/ORDO/Orphanet_122821
ClinVar:KERA 1 http://www.orpha.net/ORDO/Orphanet_122825
ClinVar:KHK 1 http://www.orpha.net/ORDO/Orphanet_122829
ClinVar:KIAA0196 1 http://www.orpha.net/ORDO/Orphanet_122831
ClinVar:KIF1BP 1 http://www.orpha.net/ORDO/Orphanet_122834
ClinVar:KIAA2022 1 http://www.orpha.net/ORDO/Orphanet_122838
ClinVar:KIF1B 1 http://www.orpha.net/ORDO/Orphanet_122840
ClinVar:KIF21A 1 http://www.orpha.net/ORDO/Orphanet_122847
ClinVar:KIF5A 1 http://www.orpha.net/ORDO/Orphanet_122851
ClinVar:KISS1R 1 http://www.orpha.net/ORDO/Orphanet_122857
ClinVar:KIT 1 http://www.orpha.net/ORDO/Orphanet_122862
ClinVar:KLF11 1 http://www.orpha.net/ORDO/Orphanet_122868
ClinVar:KLKB1 1 http://www.orpha.net/ORDO/Orphanet_122872
ClinVar:KNG1 1 http://www.orpha.net/ORDO/Orphanet_122875
ClinVar:KRAS 1 http://www.orpha.net/ORDO/Orphanet_122879
ClinVar:KRIT1 1 http://www.orpha.net/ORDO/Orphanet_122883
ClinVar:KRT1 1 http://www.orpha.net/ORDO/Orphanet_122887
ClinVar:KRT10 1 http://www.orpha.net/ORDO/Orphanet_122891
ClinVar:KRT12 1 http://www.orpha.net/ORDO/Orphanet_122894
ClinVar:KRT14 1 http://www.orpha.net/ORDO/Orphanet_122897
ClinVar:KRT16 1 http://www.orpha.net/ORDO/Orphanet_122901
ClinVar:KRT17 1 http://www.orpha.net/ORDO/Orphanet_122904
ClinVar:KRT2 1 http://www.orpha.net/ORDO/Orphanet_122907
ClinVar:KRT3 1 http://www.orpha.net/ORDO/Orphanet_122911
ClinVar:KRT5 1 http://www.orpha.net/ORDO/Orphanet_122913
ClinVar:KRT6A 1 http://www.orpha.net/ORDO/Orphanet_122917
ClinVar:KRT6B 1 http://www.orpha.net/ORDO/Orphanet_122925
ClinVar:KRT81 1 http://www.orpha.net/ORDO/Orphanet_122928
ClinVar:KRT83 1 http://www.orpha.net/ORDO/Orphanet_122932
ClinVar:KRT85 1 http://www.orpha.net/ORDO/Orphanet_122936
ClinVar:KRT86 1 http://www.orpha.net/ORDO/Orphanet_122940
ClinVar:KRT9 1 http://www.orpha.net/ORDO/Orphanet_122945
ClinVar:L1CAM 1 http://www.orpha.net/ORDO/Orphanet_122948
ClinVar:L2HGDH 1 http://www.orpha.net/ORDO/Orphanet_122957
ClinVar:LAMA2 1 http://www.orpha.net/ORDO/Orphanet_122961
ClinVar:LAMA3 1 http://www.orpha.net/ORDO/Orphanet_122964
ClinVar:LAMB2 1 http://www.orpha.net/ORDO/Orphanet_122971
ClinVar:LAMB3 1 http://www.orpha.net/ORDO/Orphanet_122974
ClinVar:LAMC2 1 http://www.orpha.net/ORDO/Orphanet_122980
ClinVar:LAMP2 1 http://www.orpha.net/ORDO/Orphanet_122989
ClinVar:LARGE 1 http://www.orpha.net/ORDO/Orphanet_122992
ClinVar:LBR 1 http://www.orpha.net/ORDO/Orphanet_123003
ClinVar:LCAT 1 http://www.orpha.net/ORDO/Orphanet_123006
ClinVar:LCT 1 http://www.orpha.net/ORDO/Orphanet_123008
ClinVar:LDB3 1 http://www.orpha.net/ORDO/Orphanet_123010
ClinVar:LDHA 1 http://www.orpha.net/ORDO/Orphanet_123015
ClinVar:LDHB 1 http://www.orpha.net/ORDO/Orphanet_123017
ClinVar:LDLR 1 http://www.orpha.net/ORDO/Orphanet_123021
ClinVar:LDLRAP1 1 http://www.orpha.net/ORDO/Orphanet_123023
ClinVar:LEMD3 1 http://www.orpha.net/ORDO/Orphanet_123031
ClinVar:LEP 1 http://www.orpha.net/ORDO/Orphanet_123034
ClinVar:LEPR 1 http://www.orpha.net/ORDO/Orphanet_123038
ClinVar:LGI1 1 http://www.orpha.net/ORDO/Orphanet_123042
ClinVar:LHB 1 http://www.orpha.net/ORDO/Orphanet_123046
ClinVar:LHCGR 1 http://www.orpha.net/ORDO/Orphanet_123048
ClinVar:LHX3 1 http://www.orpha.net/ORDO/Orphanet_123053
ClinVar:LIFR 1 http://www.orpha.net/ORDO/Orphanet_123055
ClinVar:LIG4 1 http://www.orpha.net/ORDO/Orphanet_123058
ClinVar:LIMK1 1 http://www.orpha.net/ORDO/Orphanet_123060
ClinVar:LIPA 1 http://www.orpha.net/ORDO/Orphanet_123063
ClinVar:LITAF 1 http://www.orpha.net/ORDO/Orphanet_123070
ClinVar:LMAN1 1 http://www.orpha.net/ORDO/Orphanet_123076
ClinVar:LMBR1 1 http://www.orpha.net/ORDO/Orphanet_123085
ClinVar:LMNA 1 http://www.orpha.net/ORDO/Orphanet_123090
ClinVar:LMNB1 1 http://www.orpha.net/ORDO/Orphanet_123095
ClinVar:LMX1B 1 http://www.orpha.net/ORDO/Orphanet_123102
ClinVar:LOR 1 http://www.orpha.net/ORDO/Orphanet_123105
ClinVar:LPIN2 1 http://www.orpha.net/ORDO/Orphanet_123109
ClinVar:LPL 1 http://www.orpha.net/ORDO/Orphanet_123112
ClinVar:LRP5 1 http://www.orpha.net/ORDO/Orphanet_123115
ClinVar:LRPPRC 1 http://www.orpha.net/ORDO/Orphanet_123124
ClinVar:LRRC8A 1 http://www.orpha.net/ORDO/Orphanet_123129
ClinVar:MANBA 1 http://www.orpha.net/ORDO/Orphanet_123131
ClinVar:MAOA 1 http://www.orpha.net/ORDO/Orphanet_123133
ClinVar:MAP2K1 1 http://www.orpha.net/ORDO/Orphanet_123135
ClinVar:MAP2K2 1 http://www.orpha.net/ORDO/Orphanet_123140
ClinVar:MAPT 1 http://www.orpha.net/ORDO/Orphanet_123144
ClinVar:MASTL 1 http://www.orpha.net/ORDO/Orphanet_123154
ClinVar:MATN3 1 http://www.orpha.net/ORDO/Orphanet_123158
ClinVar:MC2R 1 http://www.orpha.net/ORDO/Orphanet_123161
ClinVar:MCCC1 1 http://www.orpha.net/ORDO/Orphanet_123164
ClinVar:MCCC2 1 http://www.orpha.net/ORDO/Orphanet_123167
ClinVar:MCFD2 1 http://www.orpha.net/ORDO/Orphanet_123170
ClinVar:MCOLN1 1 http://www.orpha.net/ORDO/Orphanet_123175
ClinVar:MCPH1 1 http://www.orpha.net/ORDO/Orphanet_123183
ClinVar:MECP2 1 http://www.orpha.net/ORDO/Orphanet_123186
ClinVar:MEFV 1 http://www.orpha.net/ORDO/Orphanet_123191
ClinVar:MEN1 1 http://www.orpha.net/ORDO/Orphanet_123196
ClinVar:MERTK 1 http://www.orpha.net/ORDO/Orphanet_123198
ClinVar:MET 1 http://www.orpha.net/ORDO/Orphanet_123201
ClinVar:MFN2 1 http://www.orpha.net/ORDO/Orphanet_123207
ClinVar:MFRP 1 http://www.orpha.net/ORDO/Orphanet_123212
ClinVar:MGAT2 1 http://www.orpha.net/ORDO/Orphanet_123216
ClinVar:MGP 1 http://www.orpha.net/ORDO/Orphanet_123219
ClinVar:MID1 1 http://www.orpha.net/ORDO/Orphanet_123221
ClinVar:MIF 1 http://www.orpha.net/ORDO/Orphanet_123227
ClinVar:MIP 1 http://www.orpha.net/ORDO/Orphanet_123238
ClinVar:MITF 1 http://www.orpha.net/ORDO/Orphanet_123243
ClinVar:MKKS 1 http://www.orpha.net/ORDO/Orphanet_123245
ClinVar:MKS1 1 http://www.orpha.net/ORDO/Orphanet_123253
ClinVar:MLC1 1 http://www.orpha.net/ORDO/Orphanet_123257
ClinVar:MLH1 1 http://www.orpha.net/ORDO/Orphanet_123263
ClinVar:KMT2A 1 http://www.orpha.net/ORDO/Orphanet_123271
ClinVar:MLPH 1 http://www.orpha.net/ORDO/Orphanet_123279
ClinVar:MLYCD 1 http://www.orpha.net/ORDO/Orphanet_123290
ClinVar:MMAA 1 http://www.orpha.net/ORDO/Orphanet_123294
ClinVar:MMAB 1 http://www.orpha.net/ORDO/Orphanet_123296
ClinVar:LRRK2 1 http://www.orpha.net/ORDO/Orphanet_123301
ClinVar:LYST 1 http://www.orpha.net/ORDO/Orphanet_123318
ClinVar:LYZ 1 http://www.orpha.net/ORDO/Orphanet_123322
ClinVar:MAGEL2 1 http://www.orpha.net/ORDO/Orphanet_123324
ClinVar:MAN2B1 1 http://www.orpha.net/ORDO/Orphanet_123328
ClinVar:ACAD9 1 http://www.orpha.net/ORDO/Orphanet_123334
ClinVar:ACAD8 1 http://www.orpha.net/ORDO/Orphanet_123336
ClinVar:H19 1 http://www.orpha.net/ORDO/Orphanet_123340
ClinVar:WNT10A 1 http://www.orpha.net/ORDO/Orphanet_123345
ClinVar:HOXA11 1 http://www.orpha.net/ORDO/Orphanet_123347
ClinVar:COG8 1 http://www.orpha.net/ORDO/Orphanet_123357
ClinVar:CRYBB1 1 http://www.orpha.net/ORDO/Orphanet_123359
ClinVar:NOTCH1 1 http://www.orpha.net/ORDO/Orphanet_123361
ClinVar:HOXA1 1 http://www.orpha.net/ORDO/Orphanet_123364
ClinVar:TAP1 1 http://www.orpha.net/ORDO/Orphanet_123369
ClinVar:TAPBP 1 http://www.orpha.net/ORDO/Orphanet_123371
ClinVar:RAB23 1 http://www.orpha.net/ORDO/Orphanet_123373
ClinVar:DOLK 1 http://www.orpha.net/ORDO/Orphanet_123375
ClinVar:CRLF1 1 http://www.orpha.net/ORDO/Orphanet_123381
ClinVar:AASS 1 http://www.orpha.net/ORDO/Orphanet_123389
ClinVar:APC 1 http://www.orpha.net/ORDO/Orphanet_123393
ClinVar:BLM 1 http://www.orpha.net/ORDO/Orphanet_123406
ClinVar:HFE 1 http://www.orpha.net/ORDO/Orphanet_123411
ClinVar:HFE2 1 http://www.orpha.net/ORDO/Orphanet_123414
ClinVar:POMC 1 http://www.orpha.net/ORDO/Orphanet_123421
ClinVar:SLC3A1 1 http://www.orpha.net/ORDO/Orphanet_123426
ClinVar:SOST 1 http://www.orpha.net/ORDO/Orphanet_123431
ClinVar:MMACHC 1 http://www.orpha.net/ORDO/Orphanet_123433
ClinVar:MMP13 1 http://www.orpha.net/ORDO/Orphanet_123436
ClinVar:MMP2 1 http://www.orpha.net/ORDO/Orphanet_123439
ClinVar:MOCOS 1 http://www.orpha.net/ORDO/Orphanet_123447
ClinVar:MOCS1 1 http://www.orpha.net/ORDO/Orphanet_123452
ClinVar:MOCS2 1 http://www.orpha.net/ORDO/Orphanet_123455
ClinVar:MPDU1 1 http://www.orpha.net/ORDO/Orphanet_123458
ClinVar:MPI 1 http://www.orpha.net/ORDO/Orphanet_123463
ClinVar:MPL 1 http://www.orpha.net/ORDO/Orphanet_123465
ClinVar:MPO 1 http://www.orpha.net/ORDO/Orphanet_123468
ClinVar:MPV17 1 http://www.orpha.net/ORDO/Orphanet_123470
ClinVar:MPZ 1 http://www.orpha.net/ORDO/Orphanet_123473
ClinVar:MRAP 1 http://www.orpha.net/ORDO/Orphanet_123478
ClinVar:MRE11A 1 http://www.orpha.net/ORDO/Orphanet_123483
ClinVar:MSH2 1 http://www.orpha.net/ORDO/Orphanet_123487
ClinVar:MSH6 1 http://www.orpha.net/ORDO/Orphanet_123492
ClinVar:MSX1 1 http://www.orpha.net/ORDO/Orphanet_123495
ClinVar:MSX2 1 http://www.orpha.net/ORDO/Orphanet_123500
ClinVar:MT-ATP6 1 http://www.orpha.net/ORDO/Orphanet_123508
ClinVar:MT-CO1 1 http://www.orpha.net/ORDO/Orphanet_123512
ClinVar:MT-CO2 1 http://www.orpha.net/ORDO/Orphanet_123516
ClinVar:MT-CO3 1 http://www.orpha.net/ORDO/Orphanet_123520
ClinVar:MT-CYB 1 http://www.orpha.net/ORDO/Orphanet_123524
ClinVar:MTHFR 1 http://www.orpha.net/ORDO/Orphanet_123529
ClinVar:MTM1 1 http://www.orpha.net/ORDO/Orphanet_123531
ClinVar:MTMR2 1 http://www.orpha.net/ORDO/Orphanet_123533
ClinVar:MT-ND1 1 http://www.orpha.net/ORDO/Orphanet_123537
ClinVar:MT-ND2 1 http://www.orpha.net/ORDO/Orphanet_123542
ClinVar:MT-ND3 1 http://www.orpha.net/ORDO/Orphanet_123547
ClinVar:MT-ND4 1 http://www.orpha.net/ORDO/Orphanet_123552
ClinVar:MT-ND4L 1 http://www.orpha.net/ORDO/Orphanet_123557
ClinVar:MT-ND5 1 http://www.orpha.net/ORDO/Orphanet_123562
ClinVar:MT-ND6 1 http://www.orpha.net/ORDO/Orphanet_123567
ClinVar:MTR 1 http://www.orpha.net/ORDO/Orphanet_123572
ClinVar:MTRR 1 http://www.orpha.net/ORDO/Orphanet_123574
ClinVar:MTTP 1 http://www.orpha.net/ORDO/Orphanet_123576
ClinVar:MUT 1 http://www.orpha.net/ORDO/Orphanet_123583
ClinVar:MUTYH 1 http://www.orpha.net/ORDO/Orphanet_123585
ClinVar:MVK 1 http://www.orpha.net/ORDO/Orphanet_123588
ClinVar:MYBPC3 1 http://www.orpha.net/ORDO/Orphanet_123595
ClinVar:MYCN 1 http://www.orpha.net/ORDO/Orphanet_123600
ClinVar:MYF6 1 http://www.orpha.net/ORDO/Orphanet_123603
ClinVar:MYH11 1 http://www.orpha.net/ORDO/Orphanet_123606
ClinVar:MYH14 1 http://www.orpha.net/ORDO/Orphanet_123610
ClinVar:MYH2 1 http://www.orpha.net/ORDO/Orphanet_123615
ClinVar:MYH3 1 http://www.orpha.net/ORDO/Orphanet_123617
ClinVar:MYH6 1 http://www.orpha.net/ORDO/Orphanet_123619
ClinVar:MYH7 1 http://www.orpha.net/ORDO/Orphanet_123621
ClinVar:MYH8 1 http://www.orpha.net/ORDO/Orphanet_123626
ClinVar:MYH9 1 http://www.orpha.net/ORDO/Orphanet_123628
ClinVar:MYL2 1 http://www.orpha.net/ORDO/Orphanet_123631
ClinVar:MYO15A 1 http://www.orpha.net/ORDO/Orphanet_123641
ClinVar:MYO5A 1 http://www.orpha.net/ORDO/Orphanet_123645
ClinVar:MYO6 1 http://www.orpha.net/ORDO/Orphanet_123648
ClinVar:MYO7A 1 http://www.orpha.net/ORDO/Orphanet_123653
ClinVar:MYOC 1 http://www.orpha.net/ORDO/Orphanet_123659
ClinVar:MYOT 1 http://www.orpha.net/ORDO/Orphanet_123664
ClinVar:NAGA 1 http://www.orpha.net/ORDO/Orphanet_123669
ClinVar:NAGLU 1 http://www.orpha.net/ORDO/Orphanet_123672
ClinVar:NAGS 1 http://www.orpha.net/ORDO/Orphanet_123675
ClinVar:NAIP 1 http://www.orpha.net/ORDO/Orphanet_123680
ClinVar:NBN 1 http://www.orpha.net/ORDO/Orphanet_123688
ClinVar:NCF1 1 http://www.orpha.net/ORDO/Orphanet_123695
ClinVar:NCF2 1 http://www.orpha.net/ORDO/Orphanet_123701
ClinVar:NDN 1 http://www.orpha.net/ORDO/Orphanet_123710
ClinVar:NDP 1 http://www.orpha.net/ORDO/Orphanet_123713
ClinVar:NDRG1 1 http://www.orpha.net/ORDO/Orphanet_123716
ClinVar:NDUFAF2 1 http://www.orpha.net/ORDO/Orphanet_123723
ClinVar:NDUFS1 1 http://www.orpha.net/ORDO/Orphanet_123727
ClinVar:NDUFS2 1 http://www.orpha.net/ORDO/Orphanet_123729
ClinVar:NDUFS3 1 http://www.orpha.net/ORDO/Orphanet_123731
ClinVar:NDUFS4 1 http://www.orpha.net/ORDO/Orphanet_123733
ClinVar:NDUFS6 1 http://www.orpha.net/ORDO/Orphanet_123736
ClinVar:NDUFS7 1 http://www.orpha.net/ORDO/Orphanet_123738
ClinVar:NDUFS8 1 http://www.orpha.net/ORDO/Orphanet_123743
ClinVar:NDUFV1 1 http://www.orpha.net/ORDO/Orphanet_123745
ClinVar:NDUFV2 1 http://www.orpha.net/ORDO/Orphanet_123747
ClinVar:NEB 1 http://www.orpha.net/ORDO/Orphanet_123749
ClinVar:NEFH 1 http://www.orpha.net/ORDO/Orphanet_123752
ClinVar:NEFL 1 http://www.orpha.net/ORDO/Orphanet_123754
ClinVar:NELF 1 http://www.orpha.net/ORDO/Orphanet_123757
ClinVar:NEU1 1 http://www.orpha.net/ORDO/Orphanet_123759
ClinVar:NEUROD1 1 http://www.orpha.net/ORDO/Orphanet_123762
ClinVar:NEUROG3 1 http://www.orpha.net/ORDO/Orphanet_123767
ClinVar:NF1 1 http://www.orpha.net/ORDO/Orphanet_123772
ClinVar:NF2 1 http://www.orpha.net/ORDO/Orphanet_123774
ClinVar:NGF 1 http://www.orpha.net/ORDO/Orphanet_123777
ClinVar:NHLRC1 1 http://www.orpha.net/ORDO/Orphanet_123779
ClinVar:NHS 1 http://www.orpha.net/ORDO/Orphanet_123783
ClinVar:NIPA1 1 http://www.orpha.net/ORDO/Orphanet_123785
ClinVar:NIPBL 1 http://www.orpha.net/ORDO/Orphanet_123789
ClinVar:NKX2-5 1 http://www.orpha.net/ORDO/Orphanet_123797
ClinVar:NLRP3 1 http://www.orpha.net/ORDO/Orphanet_123821
ClinVar:NLRP7 1 http://www.orpha.net/ORDO/Orphanet_123834
ClinVar:NOD2 1 http://www.orpha.net/ORDO/Orphanet_123845
ClinVar:NOG 1 http://www.orpha.net/ORDO/Orphanet_123854
ClinVar:NOTCH2 1 http://www.orpha.net/ORDO/Orphanet_123858
ClinVar:NOTCH3 1 http://www.orpha.net/ORDO/Orphanet_123860
ClinVar:NP 1 http://www.orpha.net/ORDO/Orphanet_123864
ClinVar:NPC1 1 http://www.orpha.net/ORDO/Orphanet_123868
ClinVar:NPC2 1 http://www.orpha.net/ORDO/Orphanet_123870
ClinVar:NPHP1 1 http://www.orpha.net/ORDO/Orphanet_123874
ClinVar:NPHP3 1 http://www.orpha.net/ORDO/Orphanet_123878
ClinVar:NPHP4 1 http://www.orpha.net/ORDO/Orphanet_123884
ClinVar:NPHS1 1 http://www.orpha.net/ORDO/Orphanet_123889
ClinVar:NPHS2 1 http://www.orpha.net/ORDO/Orphanet_123893
ClinVar:NPR2 1 http://www.orpha.net/ORDO/Orphanet_123897
ClinVar:NR0B1 1 http://www.orpha.net/ORDO/Orphanet_123902
ClinVar:NR2E3 1 http://www.orpha.net/ORDO/Orphanet_123912
ClinVar:NR3C1 1 http://www.orpha.net/ORDO/Orphanet_123916
ClinVar:NR3C2 1 http://www.orpha.net/ORDO/Orphanet_123920
ClinVar:NRL 1 http://www.orpha.net/ORDO/Orphanet_123930
ClinVar:NRTN 1 http://www.orpha.net/ORDO/Orphanet_123934
ClinVar:NSD1 1 http://www.orpha.net/ORDO/Orphanet_123937
ClinVar:NSDHL 1 http://www.orpha.net/ORDO/Orphanet_123942
ClinVar:NT5C3A 1 http://www.orpha.net/ORDO/Orphanet_123953
ClinVar:NTRK1 1 http://www.orpha.net/ORDO/Orphanet_123961
ClinVar:NYX 1 http://www.orpha.net/ORDO/Orphanet_123966
ClinVar:OAT 1 http://www.orpha.net/ORDO/Orphanet_123971
ClinVar:OCA2 1 http://www.orpha.net/ORDO/Orphanet_123974
ClinVar:OCRL 1 http://www.orpha.net/ORDO/Orphanet_123978
ClinVar:OFD1 1 http://www.orpha.net/ORDO/Orphanet_123982
ClinVar:OPA1 1 http://www.orpha.net/ORDO/Orphanet_123996
ClinVar:OPA3 1 http://www.orpha.net/ORDO/Orphanet_124003
ClinVar:OPN1LW 1 http://www.orpha.net/ORDO/Orphanet_124007
ClinVar:OPN1MW 1 http://www.orpha.net/ORDO/Orphanet_124012
ClinVar:OPN1SW 1 http://www.orpha.net/ORDO/Orphanet_124018
ClinVar:OPTN 1 http://www.orpha.net/ORDO/Orphanet_124021
ClinVar:OSTM1 1 http://www.orpha.net/ORDO/Orphanet_124029
ClinVar:OTC 1 http://www.orpha.net/ORDO/Orphanet_124033
ClinVar:OTOF 1 http://www.orpha.net/ORDO/Orphanet_124035
ClinVar:OTX2 1 http://www.orpha.net/ORDO/Orphanet_124040
ClinVar:OXCT1 1 http://www.orpha.net/ORDO/Orphanet_124042
ClinVar:P2RY12 1 http://www.orpha.net/ORDO/Orphanet_124046
ClinVar:PABPN1 1 http://www.orpha.net/ORDO/Orphanet_124051
ClinVar:PAFAH1B1 1 http://www.orpha.net/ORDO/Orphanet_124062
ClinVar:PAH 1 http://www.orpha.net/ORDO/Orphanet_124068
ClinVar:PANK2 1 http://www.orpha.net/ORDO/Orphanet_124070
ClinVar:PAPSS2 1 http://www.orpha.net/ORDO/Orphanet_124077
ClinVar:PARK2 1 http://www.orpha.net/ORDO/Orphanet_124080
ClinVar:PARK7 1 http://www.orpha.net/ORDO/Orphanet_124084
ClinVar:PAX2 1 http://www.orpha.net/ORDO/Orphanet_124088
ClinVar:PAX3 1 http://www.orpha.net/ORDO/Orphanet_124090
ClinVar:PAX6 1 http://www.orpha.net/ORDO/Orphanet_124094
ClinVar:PAX7 1 http://www.orpha.net/ORDO/Orphanet_124100
ClinVar:PAX8 1 http://www.orpha.net/ORDO/Orphanet_124103
ClinVar:PAX9 1 http://www.orpha.net/ORDO/Orphanet_124105
ClinVar:PC 1 http://www.orpha.net/ORDO/Orphanet_124107
ClinVar:PCBD1 1 http://www.orpha.net/ORDO/Orphanet_124110
ClinVar:PCCA 1 http://www.orpha.net/ORDO/Orphanet_124115
ClinVar:PCCB 1 http://www.orpha.net/ORDO/Orphanet_124117
ClinVar:PCDH15 1 http://www.orpha.net/ORDO/Orphanet_124119
ClinVar:PCK1 1 http://www.orpha.net/ORDO/Orphanet_124123
ClinVar:PCK2 1 http://www.orpha.net/ORDO/Orphanet_124125
ClinVar:PCM1 1 http://www.orpha.net/ORDO/Orphanet_124129
ClinVar:PCSK1 1 http://www.orpha.net/ORDO/Orphanet_124131
ClinVar:PCSK9 1 http://www.orpha.net/ORDO/Orphanet_124137
ClinVar:PDCD10 1 http://www.orpha.net/ORDO/Orphanet_124142
ClinVar:PDE6A 1 http://www.orpha.net/ORDO/Orphanet_124146
ClinVar:PDE6B 1 http://www.orpha.net/ORDO/Orphanet_124149
ClinVar:PDGFRA 1 http://www.orpha.net/ORDO/Orphanet_124154
ClinVar:PDHA1 1 http://www.orpha.net/ORDO/Orphanet_124161
ClinVar:PDHB 1 http://www.orpha.net/ORDO/Orphanet_124164
ClinVar:PDHX 1 http://www.orpha.net/ORDO/Orphanet_124166
ClinVar:PDX1 1 http://www.orpha.net/ORDO/Orphanet_124173
ClinVar:PEPD 1 http://www.orpha.net/ORDO/Orphanet_124187
ClinVar:PEX1 1 http://www.orpha.net/ORDO/Orphanet_124189
ClinVar:PEX10 1 http://www.orpha.net/ORDO/Orphanet_124191
ClinVar:PEX12 1 http://www.orpha.net/ORDO/Orphanet_124194
ClinVar:PEX13 1 http://www.orpha.net/ORDO/Orphanet_124196
ClinVar:PEX14 1 http://www.orpha.net/ORDO/Orphanet_124198
ClinVar:PEX16 1 http://www.orpha.net/ORDO/Orphanet_124200
ClinVar:PEX19 1 http://www.orpha.net/ORDO/Orphanet_124202
ClinVar:PEX26 1 http://www.orpha.net/ORDO/Orphanet_124206
ClinVar:PEX3 1 http://www.orpha.net/ORDO/Orphanet_124209
ClinVar:PEX5 1 http://www.orpha.net/ORDO/Orphanet_124211
ClinVar:PEX6 1 http://www.orpha.net/ORDO/Orphanet_124215
ClinVar:PEX7 1 http://www.orpha.net/ORDO/Orphanet_124219
ClinVar:PFKM 1 http://www.orpha.net/ORDO/Orphanet_124223
ClinVar:PGK1 1 http://www.orpha.net/ORDO/Orphanet_124227
ClinVar:PGM1 1 http://www.orpha.net/ORDO/Orphanet_124229
ClinVar:PHEX 1 http://www.orpha.net/ORDO/Orphanet_124239
ClinVar:FGFR2 1 http://www.orpha.net/ORDO/Orphanet_132262
ClinVar:ERCC3 1 http://www.orpha.net/ORDO/Orphanet_132264
ClinVar:ERCC5 1 http://www.orpha.net/ORDO/Orphanet_132271
ClinVar:AR 1 http://www.orpha.net/ORDO/Orphanet_132285
ClinVar:SMN1 1 http://www.orpha.net/ORDO/Orphanet_133452
ClinVar:BBS12 1 http://www.orpha.net/ORDO/Orphanet_137646
ClinVar:TBXAS1 1 http://www.orpha.net/ORDO/Orphanet_137959
ClinVar:AP1S2 1 http://www.orpha.net/ORDO/Orphanet_137988
ClinVar:HADHA 1 http://www.orpha.net/ORDO/Orphanet_138233
ClinVar:NME8 1 http://www.orpha.net/ORDO/Orphanet_138359
ClinVar:NLRP12 1 http://www.orpha.net/ORDO/Orphanet_138361
ClinVar:FLT3 1 http://www.orpha.net/ORDO/Orphanet_138366
ClinVar:PDGFRB 1 http://www.orpha.net/ORDO/Orphanet_138376
ClinVar:LHX4 1 http://www.orpha.net/ORDO/Orphanet_138383
ClinVar:SOX3 1 http://www.orpha.net/ORDO/Orphanet_138386
ClinVar:FANCI 1 http://www.orpha.net/ORDO/Orphanet_138447
ClinVar:TERT 1 http://www.orpha.net/ORDO/Orphanet_138451
ClinVar:TERC 1 http://www.orpha.net/ORDO/Orphanet_138457
ClinVar:IL6 1 http://www.orpha.net/ORDO/Orphanet_138462
ClinVar:NUP62 1 http://www.orpha.net/ORDO/Orphanet_138467
ClinVar:SIX5 1 http://www.orpha.net/ORDO/Orphanet_138472
ClinVar:PNPLA2 1 http://www.orpha.net/ORDO/Orphanet_138475
ClinVar:SMC3 1 http://www.orpha.net/ORDO/Orphanet_138480
ClinVar:MED12 1 http://www.orpha.net/ORDO/Orphanet_138486
ClinVar:CD96 1 http://www.orpha.net/ORDO/Orphanet_138499
ClinVar:GJA5 1 http://www.orpha.net/ORDO/Orphanet_138503
ClinVar:FAM20C 1 http://www.orpha.net/ORDO/Orphanet_138509
ClinVar:SATB2 1 http://www.orpha.net/ORDO/Orphanet_138514
ClinVar:GLI2 1 http://www.orpha.net/ORDO/Orphanet_138516
ClinVar:TDGF1 1 http://www.orpha.net/ORDO/Orphanet_138518
ClinVar:STAT3 1 http://www.orpha.net/ORDO/Orphanet_138523
ClinVar:STRA6 1 http://www.orpha.net/ORDO/Orphanet_138526
ClinVar:REN 1 http://www.orpha.net/ORDO/Orphanet_138530
ClinVar:AGTR1 1 http://www.orpha.net/ORDO/Orphanet_138533
ClinVar:SMS 1 http://www.orpha.net/ORDO/Orphanet_138543
ClinVar:VANGL1 1 http://www.orpha.net/ORDO/Orphanet_138557
ClinVar:MTHFD1 1 http://www.orpha.net/ORDO/Orphanet_138561
ClinVar:AMN 1 http://www.orpha.net/ORDO/Orphanet_138568
ClinVar:FGD4 1 http://www.orpha.net/ORDO/Orphanet_138570
ClinVar:C1QTNF5 1 http://www.orpha.net/ORDO/Orphanet_138575
ClinVar:IGF1R 1 http://www.orpha.net/ORDO/Orphanet_138578
ClinVar:PHF8 1 http://www.orpha.net/ORDO/Orphanet_138583
ClinVar:HBA1 1 http://www.orpha.net/ORDO/Orphanet_138671
ClinVar:SHFM1 1 http://www.orpha.net/ORDO/Orphanet_138681
ClinVar:SUMO1 1 http://www.orpha.net/ORDO/Orphanet_138689
ClinVar:RAX2 1 http://www.orpha.net/ORDO/Orphanet_138702
ClinVar:HTRA1 1 http://www.orpha.net/ORDO/Orphanet_138706
ClinVar:KCNQ1OT1 1 http://www.orpha.net/ORDO/Orphanet_138711
ClinVar:CYBA 1 http://www.orpha.net/ORDO/Orphanet_138719
ClinVar:RAF1 1 http://www.orpha.net/ORDO/Orphanet_138722
ClinVar:HLA-DQA1 1 http://www.orpha.net/ORDO/Orphanet_138728
ClinVar:XIAP 1 http://www.orpha.net/ORDO/Orphanet_138732
ClinVar:RMRP 1 http://www.orpha.net/ORDO/Orphanet_138742
ClinVar:MNX1 1 http://www.orpha.net/ORDO/Orphanet_138820
ClinVar:HADHB 1 http://www.orpha.net/ORDO/Orphanet_138829
ClinVar:ACTA2 1 http://www.orpha.net/ORDO/Orphanet_138831
ClinVar:LEPRE1 1 http://www.orpha.net/ORDO/Orphanet_138843
ClinVar:CRTAP 1 http://www.orpha.net/ORDO/Orphanet_138847
ClinVar:CASP8 1 http://www.orpha.net/ORDO/Orphanet_138851
ClinVar:MT-TL1 1 http://www.orpha.net/ORDO/Orphanet_138895
ClinVar:MT-TK 1 http://www.orpha.net/ORDO/Orphanet_138900
ClinVar:MT-RNR1 1 http://www.orpha.net/ORDO/Orphanet_138902
ClinVar:MT-TQ 1 http://www.orpha.net/ORDO/Orphanet_138906
ClinVar:PRSS2 1 http://www.orpha.net/ORDO/Orphanet_139106
ClinVar:CTRC 1 http://www.orpha.net/ORDO/Orphanet_139109
ClinVar:AKR1D1 1 http://www.orpha.net/ORDO/Orphanet_139142
ClinVar:BCL11A 1 http://www.orpha.net/ORDO/Orphanet_139145
ClinVar:BIN1 1 http://www.orpha.net/ORDO/Orphanet_139150
ClinVar:CHMP4B 1 http://www.orpha.net/ORDO/Orphanet_139158
ClinVar:ERCC1 1 http://www.orpha.net/ORDO/Orphanet_139163
ClinVar:ETV6 1 http://www.orpha.net/ORDO/Orphanet_139165
ClinVar:KLK4 1 http://www.orpha.net/ORDO/Orphanet_139168
ClinVar:MESP2 1 http://www.orpha.net/ORDO/Orphanet_139173
ClinVar:MMP20 1 http://www.orpha.net/ORDO/Orphanet_139176
ClinVar:MTMR14 1 http://www.orpha.net/ORDO/Orphanet_139178
ClinVar:NLRP1 1 http://www.orpha.net/ORDO/Orphanet_139184
ClinVar:NDUFA1 1 http://www.orpha.net/ORDO/Orphanet_139187
ClinVar:PALB2 1 http://www.orpha.net/ORDO/Orphanet_139189
ClinVar:SLC46A1 1 http://www.orpha.net/ORDO/Orphanet_139193
ClinVar:SLC35A1 1 http://www.orpha.net/ORDO/Orphanet_139197
ClinVar:TAF1 1 http://www.orpha.net/ORDO/Orphanet_139199
ClinVar:DFNB31 1 http://www.orpha.net/ORDO/Orphanet_139217
ClinVar:MC1R 1 http://www.orpha.net/ORDO/Orphanet_139778
ClinVar:TMPRSS6 1 http://www.orpha.net/ORDO/Orphanet_139780
ClinVar:FAM83H 1 http://www.orpha.net/ORDO/Orphanet_139802
ClinVar:FBLN1 1 http://www.orpha.net/ORDO/Orphanet_139855
ClinVar:YARS 1 http://www.orpha.net/ORDO/Orphanet_139906
ClinVar:UBA1 1 http://www.orpha.net/ORDO/Orphanet_140036
ClinVar:OSMR 1 http://www.orpha.net/ORDO/Orphanet_140041
ClinVar:FHL1 1 http://www.orpha.net/ORDO/Orphanet_140044
ClinVar:BMP4 1 http://www.orpha.net/ORDO/Orphanet_140047
ClinVar:TINF2 1 http://www.orpha.net/ORDO/Orphanet_140050
ClinVar:ADCK3 1 http://www.orpha.net/ORDO/Orphanet_140053
ClinVar:SLC16A12 1 http://www.orpha.net/ORDO/Orphanet_140058
ClinVar:DCTN1 1 http://www.orpha.net/ORDO/Orphanet_140067
ClinVar:MRPS22 1 http://www.orpha.net/ORDO/Orphanet_140069
ClinVar:RNF135 1 http://www.orpha.net/ORDO/Orphanet_140074
ClinVar:MT-TE 1 http://www.orpha.net/ORDO/Orphanet_140514
ClinVar:LCA5 1 http://www.orpha.net/ORDO/Orphanet_140526
ClinVar:RPGRIP1L 1 http://www.orpha.net/ORDO/Orphanet_140541
ClinVar:ABCA3 1 http://www.orpha.net/ORDO/Orphanet_140560
ClinVar:MAF 1 http://www.orpha.net/ORDO/Orphanet_140567
ClinVar:NKX2-1 1 http://www.orpha.net/ORDO/Orphanet_156077
ClinVar:DARS2 1 http://www.orpha.net/ORDO/Orphanet_158065
ClinVar:PDP1 1 http://www.orpha.net/ORDO/Orphanet_158072
ClinVar:TREH 1 http://www.orpha.net/ORDO/Orphanet_158077
ClinVar:PNPLA6 1 http://www.orpha.net/ORDO/Orphanet_158087
ClinVar:BCL6 1 http://www.orpha.net/ORDO/Orphanet_158372
ClinVar:CFB 1 http://www.orpha.net/ORDO/Orphanet_158379
ClinVar:RPS17 1 http://www.orpha.net/ORDO/Orphanet_158382
ClinVar:ATXN8OS 1 http://www.orpha.net/ORDO/Orphanet_158384
ClinVar:BMP15 1 http://www.orpha.net/ORDO/Orphanet_158386
ClinVar:SEMA4A 1 http://www.orpha.net/ORDO/Orphanet_158388
ClinVar:SEMA5A 1 http://www.orpha.net/ORDO/Orphanet_158394
ClinVar:SIM1 1 http://www.orpha.net/ORDO/Orphanet_158398
ClinVar:SLC11A1 1 http://www.orpha.net/ORDO/Orphanet_158401
ClinVar:SLC25A3 1 http://www.orpha.net/ORDO/Orphanet_158407
ClinVar:SLC2A1 1 http://www.orpha.net/ORDO/Orphanet_158410
ClinVar:SLC6A5 1 http://www.orpha.net/ORDO/Orphanet_158412
ClinVar:SLC9A6 1 http://www.orpha.net/ORDO/Orphanet_158415
ClinVar:SSX2 1 http://www.orpha.net/ORDO/Orphanet_158446
ClinVar:SUCLG1 1 http://www.orpha.net/ORDO/Orphanet_158461
ClinVar:TARDBP 1 http://www.orpha.net/ORDO/Orphanet_158581
ClinVar:HNF1A 1 http://www.orpha.net/ORDO/Orphanet_158583
ClinVar:HNF1B 1 http://www.orpha.net/ORDO/Orphanet_158588
ClinVar:TCF4 1 http://www.orpha.net/ORDO/Orphanet_158595
ClinVar:TGFA 1 http://www.orpha.net/ORDO/Orphanet_159040
ClinVar:TMPO 1 http://www.orpha.net/ORDO/Orphanet_159042
ClinVar:TNFSF11 1 http://www.orpha.net/ORDO/Orphanet_159048
ClinVar:TNNC1 1 http://www.orpha.net/ORDO/Orphanet_159055
ClinVar:GIGYF2 1 http://www.orpha.net/ORDO/Orphanet_159059
ClinVar:TYK2 1 http://www.orpha.net/ORDO/Orphanet_159075
ClinVar:UBE2A 1 http://www.orpha.net/ORDO/Orphanet_159080
ClinVar:UFD1L 1 http://www.orpha.net/ORDO/Orphanet_159084
ClinVar:VCL 1 http://www.orpha.net/ORDO/Orphanet_159087
ClinVar:SNORD116@ 1 http://www.orpha.net/ORDO/Orphanet_159122
ClinVar:AUTS2 1 http://www.orpha.net/ORDO/Orphanet_159134
ClinVar:NOP10 1 http://www.orpha.net/ORDO/Orphanet_159137
ClinVar:MEG3 1 http://www.orpha.net/ORDO/Orphanet_159158
ClinVar:RTL1 1 http://www.orpha.net/ORDO/Orphanet_159161
ClinVar:P2RY5 1 http://www.orpha.net/ORDO/Orphanet_159166
ClinVar:FERMT1 1 http://www.orpha.net/ORDO/Orphanet_159172
ClinVar:STRC 1 http://www.orpha.net/ORDO/Orphanet_159178
ClinVar:PCNT 1 http://www.orpha.net/ORDO/Orphanet_159181
ClinVar:ACTN2 1 http://www.orpha.net/ORDO/Orphanet_159192
ClinVar:CD3D 1 http://www.orpha.net/ORDO/Orphanet_159197
ClinVar:CD3E 1 http://www.orpha.net/ORDO/Orphanet_159200
ClinVar:FIG4 1 http://www.orpha.net/ORDO/Orphanet_159207
ClinVar:TRIOBP 1 http://www.orpha.net/ORDO/Orphanet_159213
ClinVar:SYNE1 1 http://www.orpha.net/ORDO/Orphanet_159219
ClinVar:PLCE1 1 http://www.orpha.net/ORDO/Orphanet_159233
ClinVar:BRWD3 1 http://www.orpha.net/ORDO/Orphanet_159239
ClinVar:CLCF1 1 http://www.orpha.net/ORDO/Orphanet_159242
ClinVar:PORCN 1 http://www.orpha.net/ORDO/Orphanet_159255
ClinVar:RDX 1 http://www.orpha.net/ORDO/Orphanet_159272
ClinVar:TRPM7 1 http://www.orpha.net/ORDO/Orphanet_159298
ClinVar:TMC6 1 http://www.orpha.net/ORDO/Orphanet_159303
ClinVar:CCDC50 1 http://www.orpha.net/ORDO/Orphanet_159308
ClinVar:ZDHHC9 1 http://www.orpha.net/ORDO/Orphanet_159313
ClinVar:ATP6V0A2 1 http://www.orpha.net/ORDO/Orphanet_159322
ClinVar:LIPH 1 http://www.orpha.net/ORDO/Orphanet_159333
ClinVar:CATSPER2 1 http://www.orpha.net/ORDO/Orphanet_159339
ClinVar:TTBK2 1 http://www.orpha.net/ORDO/Orphanet_159341
ClinVar:CHRNA2 1 http://www.orpha.net/ORDO/Orphanet_159345
ClinVar:KCNV2 1 http://www.orpha.net/ORDO/Orphanet_159360
ClinVar:VSX2 1 http://www.orpha.net/ORDO/Orphanet_159362
ClinVar:SPRED1 1 http://www.orpha.net/ORDO/Orphanet_159367
ClinVar:CLCNKA 1 http://www.orpha.net/ORDO/Orphanet_159370
ClinVar:UPF3B 1 http://www.orpha.net/ORDO/Orphanet_159373
ClinVar:TMC8 1 http://www.orpha.net/ORDO/Orphanet_159387
ClinVar:ZFYVE26 1 http://www.orpha.net/ORDO/Orphanet_159390
ClinVar:TUBA1A 1 http://www.orpha.net/ORDO/Orphanet_159394
ClinVar:SLC39A13 1 http://www.orpha.net/ORDO/Orphanet_159403
ClinVar:LHFPL5 1 http://www.orpha.net/ORDO/Orphanet_159414
ClinVar:DSG4 1 http://www.orpha.net/ORDO/Orphanet_159421
ClinVar:RARS2 1 http://www.orpha.net/ORDO/Orphanet_159426
ClinVar:CNGB1 1 http://www.orpha.net/ORDO/Orphanet_159434
ClinVar:TOPORS 1 http://www.orpha.net/ORDO/Orphanet_159443
ClinVar:RBM28 1 http://www.orpha.net/ORDO/Orphanet_159449
ClinVar:MED13L 1 http://www.orpha.net/ORDO/Orphanet_159456
ClinVar:ZNF469 1 http://www.orpha.net/ORDO/Orphanet_159463
ClinVar:VKORC1 1 http://www.orpha.net/ORDO/Orphanet_159472
ClinVar:CSF3R 1 http://www.orpha.net/ORDO/Orphanet_159476
ClinVar:CTNND2 1 http://www.orpha.net/ORDO/Orphanet_159484
ClinVar:CTSD 1 http://www.orpha.net/ORDO/Orphanet_159489
ClinVar:MAMLD1 1 http://www.orpha.net/ORDO/Orphanet_159494
ClinVar:NHEJ1 1 http://www.orpha.net/ORDO/Orphanet_159501
ClinVar:GRHL2 1 http://www.orpha.net/ORDO/Orphanet_159507
ClinVar:FAM58A 1 http://www.orpha.net/ORDO/Orphanet_159514
ClinVar:TMEM43 1 http://www.orpha.net/ORDO/Orphanet_159517
ClinVar:MFSD8 1 http://www.orpha.net/ORDO/Orphanet_159521
ClinVar:DHFR 1 http://www.orpha.net/ORDO/Orphanet_159526
ClinVar:ABCA1 1 http://www.orpha.net/ORDO/Orphanet_159528
ClinVar:DLK1 1 http://www.orpha.net/ORDO/Orphanet_159533
ClinVar:CC2D2A 1 http://www.orpha.net/ORDO/Orphanet_159539
ClinVar:UBIAD1 1 http://www.orpha.net/ORDO/Orphanet_159547
ClinVar:TYMP 1 http://www.orpha.net/ORDO/Orphanet_159550
ClinVar:EHHADH 1 http://www.orpha.net/ORDO/Orphanet_159556
ClinVar:NKX2-6 1 http://www.orpha.net/ORDO/Orphanet_159562
ClinVar:EPB42 1 http://www.orpha.net/ORDO/Orphanet_159566
ClinVar:FCGR3B 1 http://www.orpha.net/ORDO/Orphanet_159574
ClinVar:FGF3 1 http://www.orpha.net/ORDO/Orphanet_159580
ClinVar:FHL2 1 http://www.orpha.net/ORDO/Orphanet_159586
ClinVar:FMR3 1 http://www.orpha.net/ORDO/Orphanet_159590
ClinVar:FN1 1 http://www.orpha.net/ORDO/Orphanet_159592
ClinVar:FOXH1 1 http://www.orpha.net/ORDO/Orphanet_159600
ClinVar:FTH1 1 http://www.orpha.net/ORDO/Orphanet_159608
ClinVar:FUS 1 http://www.orpha.net/ORDO/Orphanet_159615
ClinVar:GABRB3 1 http://www.orpha.net/ORDO/Orphanet_159621
ClinVar:GCM2 1 http://www.orpha.net/ORDO/Orphanet_159623
ClinVar:GNRH1 1 http://www.orpha.net/ORDO/Orphanet_159628
ClinVar:AMACR 1 http://www.orpha.net/ORDO/Orphanet_159633
ClinVar:ANG 1 http://www.orpha.net/ORDO/Orphanet_159700
ClinVar:HIBCH 1 http://www.orpha.net/ORDO/Orphanet_159703
ClinVar:HLF 1 http://www.orpha.net/ORDO/Orphanet_159705
ClinVar:HMX1 1 http://www.orpha.net/ORDO/Orphanet_159708
ClinVar:HOXA2 1 http://www.orpha.net/ORDO/Orphanet_159716
ClinVar:HYMAI 1 http://www.orpha.net/ORDO/Orphanet_159723
ClinVar:IGF2 1 http://www.orpha.net/ORDO/Orphanet_159729
ClinVar:IL7R 1 http://www.orpha.net/ORDO/Orphanet_159734
ClinVar:KCNC3 1 http://www.orpha.net/ORDO/Orphanet_159737
ClinVar:KCNJ13 1 http://www.orpha.net/ORDO/Orphanet_159740
ClinVar:LFNG 1 http://www.orpha.net/ORDO/Orphanet_159744
ClinVar:LRP2 1 http://www.orpha.net/ORDO/Orphanet_159747
ClinVar:LRP6 1 http://www.orpha.net/ORDO/Orphanet_159752
ClinVar:MALT1 1 http://www.orpha.net/ORDO/Orphanet_159756
ClinVar:ASCL1 1 http://www.orpha.net/ORDO/Orphanet_159769
ClinVar:MT-ATP8 1 http://www.orpha.net/ORDO/Orphanet_159773
ClinVar:MYC 1 http://www.orpha.net/ORDO/Orphanet_159785
ClinVar:NFKBIA 1 http://www.orpha.net/ORDO/Orphanet_159788
ClinVar:NPM1 1 http://www.orpha.net/ORDO/Orphanet_159793
ClinVar:PHKG2 1 http://www.orpha.net/ORDO/Orphanet_159810
ClinVar:PLAGL1 1 http://www.orpha.net/ORDO/Orphanet_159813
ClinVar:PROM1 1 http://www.orpha.net/ORDO/Orphanet_159821
ClinVar:ACTB 1 http://www.orpha.net/ORDO/Orphanet_159893
ClinVar:ACY1 1 http://www.orpha.net/ORDO/Orphanet_159895
ClinVar:C10orf2 1 http://www.orpha.net/ORDO/Orphanet_159897
ClinVar:ITPR1 1 http://www.orpha.net/ORDO/Orphanet_159904
ClinVar:MAPK1 1 http://www.orpha.net/ORDO/Orphanet_159910
ClinVar:PSAT1 1 http://www.orpha.net/ORDO/Orphanet_159912
ClinVar:SNORD115@ 1 http://www.orpha.net/ORDO/Orphanet_159915
ClinVar:ACVR2B 1 http://www.orpha.net/ORDO/Orphanet_159918
ClinVar:AGTR2 1 http://www.orpha.net/ORDO/Orphanet_159921
ClinVar:DLG3 1 http://www.orpha.net/ORDO/Orphanet_159924
ClinVar:IL1RAPL1 1 http://www.orpha.net/ORDO/Orphanet_159931
ClinVar:OPHN1 1 http://www.orpha.net/ORDO/Orphanet_159936
ClinVar:PAK3 1 http://www.orpha.net/ORDO/Orphanet_159942
ClinVar:TUSC3 1 http://www.orpha.net/ORDO/Orphanet_159945
ClinVar:TFAP2A 1 http://www.orpha.net/ORDO/Orphanet_159950
ClinVar:UQCRQ 1 http://www.orpha.net/ORDO/Orphanet_159955
ClinVar:LIM2 1 http://www.orpha.net/ORDO/Orphanet_159976
ClinVar:LIPC 1 http://www.orpha.net/ORDO/Orphanet_159980
ClinVar:IGFALS 1 http://www.orpha.net/ORDO/Orphanet_159982
ClinVar:PNKD 1 http://www.orpha.net/ORDO/Orphanet_159984
ClinVar:CYP4F22 1 http://www.orpha.net/ORDO/Orphanet_160003
ClinVar:RAX 1 http://www.orpha.net/ORDO/Orphanet_160006
ClinVar:AKAP9 1 http://www.orpha.net/ORDO/Orphanet_160008
ClinVar:SCN4B 1 http://www.orpha.net/ORDO/Orphanet_160018
ClinVar:ALK 1 http://www.orpha.net/ORDO/Orphanet_160020
ClinVar:AURKC 1 http://www.orpha.net/ORDO/Orphanet_160048
ClinVar:APOC3 1 http://www.orpha.net/ORDO/Orphanet_160053
ClinVar:BFSP1 1 http://www.orpha.net/ORDO/Orphanet_160055
ClinVar:C3 1 http://www.orpha.net/ORDO/Orphanet_160064
ClinVar:C4A 1 http://www.orpha.net/ORDO/Orphanet_160067
ClinVar:C4B 1 http://www.orpha.net/ORDO/Orphanet_160082
ClinVar:C5 1 http://www.orpha.net/ORDO/Orphanet_160093
ClinVar:C6 1 http://www.orpha.net/ORDO/Orphanet_160107
ClinVar:C7 1 http://www.orpha.net/ORDO/Orphanet_160112
ClinVar:C8A 1 http://www.orpha.net/ORDO/Orphanet_160117
ClinVar:C8B 1 http://www.orpha.net/ORDO/Orphanet_160119
ClinVar:C8G 1 http://www.orpha.net/ORDO/Orphanet_160121
ClinVar:C9 1 http://www.orpha.net/ORDO/Orphanet_160126
ClinVar:CACNA2D4 1 http://www.orpha.net/ORDO/Orphanet_160128
ClinVar:CR2 1 http://www.orpha.net/ORDO/Orphanet_160142
ClinVar:ERBB3 1 http://www.orpha.net/ORDO/Orphanet_160236
ClinVar:ESPN 1 http://www.orpha.net/ORDO/Orphanet_160240
ClinVar:ESRRB 1 http://www.orpha.net/ORDO/Orphanet_160244
ClinVar:MECOM 1 http://www.orpha.net/ORDO/Orphanet_160253
ClinVar:GLE1 1 http://www.orpha.net/ORDO/Orphanet_160257
ClinVar:IL2RA 1 http://www.orpha.net/ORDO/Orphanet_160265
ClinVar:IFT80 1 http://www.orpha.net/ORDO/Orphanet_160278
ClinVar:GYS1 1 http://www.orpha.net/ORDO/Orphanet_160283
ClinVar:MARVELD2 1 http://www.orpha.net/ORDO/Orphanet_160288
ClinVar:KANK1 1 http://www.orpha.net/ORDO/Orphanet_160296
ClinVar:MT-TI 1 http://www.orpha.net/ORDO/Orphanet_160303
ClinVar:MT-TW 1 http://www.orpha.net/ORDO/Orphanet_160307
ClinVar:MUSK 1 http://www.orpha.net/ORDO/Orphanet_160311
ClinVar:MYO3A 1 http://www.orpha.net/ORDO/Orphanet_160313
ClinVar:PDE6H 1 http://www.orpha.net/ORDO/Orphanet_160320
ClinVar:PIP5K1C 1 http://www.orpha.net/ORDO/Orphanet_160322
ClinVar:PITPNM3 1 http://www.orpha.net/ORDO/Orphanet_160327
ClinVar:PLN 1 http://www.orpha.net/ORDO/Orphanet_160331
ClinVar:PNPO 1 http://www.orpha.net/ORDO/Orphanet_160333
ClinVar:SLC26A5 1 http://www.orpha.net/ORDO/Orphanet_160337
ClinVar:HES7 1 http://www.orpha.net/ORDO/Orphanet_165577
ClinVar:CSNK1D 1 http://www.orpha.net/ORDO/Orphanet_165845
ClinVar:GLIS3 1 http://www.orpha.net/ORDO/Orphanet_165848
ClinVar:LAMTOR2 1 http://www.orpha.net/ORDO/Orphanet_165856
ClinVar:CTGF 1 http://www.orpha.net/ORDO/Orphanet_165904
ClinVar:SCP2 1 http://www.orpha.net/ORDO/Orphanet_165921
ClinVar:SCARB2 1 http://www.orpha.net/ORDO/Orphanet_165923
ClinVar:PREPL 1 http://www.orpha.net/ORDO/Orphanet_165929
ClinVar:CNTNAP2 1 http://www.orpha.net/ORDO/Orphanet_165932
ClinVar:CHRNB2 1 http://www.orpha.net/ORDO/Orphanet_165966
ClinVar:CASK 1 http://www.orpha.net/ORDO/Orphanet_165976
ClinVar:ARHGEF9 1 http://www.orpha.net/ORDO/Orphanet_166055
ClinVar:KCNK9 1 http://www.orpha.net/ORDO/Orphanet_166255
ClinVar:STXBP1 1 http://www.orpha.net/ORDO/Orphanet_166683
ClinVar:NDUFAF4 1 http://www.orpha.net/ORDO/Orphanet_166690
ClinVar:GFM1 1 http://www.orpha.net/ORDO/Orphanet_166715
ClinVar:ITGA7 1 http://www.orpha.net/ORDO/Orphanet_166720
ClinVar:CISD2 1 http://www.orpha.net/ORDO/Orphanet_166722
ClinVar:UQCRB 1 http://www.orpha.net/ORDO/Orphanet_166726
ClinVar:TSHB 1 http://www.orpha.net/ORDO/Orphanet_166731
ClinVar:TRNH 1 http://www.orpha.net/ORDO/Orphanet_166766
ClinVar:SLC22A12 1 http://www.orpha.net/ORDO/Orphanet_166795
ClinVar:OTOA 1 http://www.orpha.net/ORDO/Orphanet_166800
ClinVar:MYO1A 1 http://www.orpha.net/ORDO/Orphanet_166803
ClinVar:DFNB59 1 http://www.orpha.net/ORDO/Orphanet_166807
ClinVar:CRYM 1 http://www.orpha.net/ORDO/Orphanet_166809
ClinVar:CLDN14 1 http://www.orpha.net/ORDO/Orphanet_166812
ClinVar:ACTG1 1 http://www.orpha.net/ORDO/Orphanet_166815
ClinVar:GDF1 1 http://www.orpha.net/ORDO/Orphanet_166892
ClinVar:MED25 1 http://www.orpha.net/ORDO/Orphanet_167742
ClinVar:FOXG1 1 http://www.orpha.net/ORDO/Orphanet_167854
ClinVar:GPC4 1 http://www.orpha.net/ORDO/Orphanet_167870
ClinVar:TLR3 1 http://www.orpha.net/ORDO/Orphanet_167875
ClinVar:PGAM2 1 http://www.orpha.net/ORDO/Orphanet_167879
ClinVar:DDX3Y 1 http://www.orpha.net/ORDO/Orphanet_167883
ClinVar:PER2 1 http://www.orpha.net/ORDO/Orphanet_167886
ClinVar:PLEKHG5 1 http://www.orpha.net/ORDO/Orphanet_167889
ClinVar:COX6B1 1 http://www.orpha.net/ORDO/Orphanet_167892
ClinVar:STX16 1 http://www.orpha.net/ORDO/Orphanet_167897
ClinVar:MT-TS1 1 http://www.orpha.net/ORDO/Orphanet_167901
ClinVar:MT-TS2 1 http://www.orpha.net/ORDO/Orphanet_167905
ClinVar:MT-TF 1 http://www.orpha.net/ORDO/Orphanet_167909
ClinVar:DNAJC19 1 http://www.orpha.net/ORDO/Orphanet_168069
ClinVar:GRN 1 http://www.orpha.net/ORDO/Orphanet_168073
ClinVar:HPGD 1 http://www.orpha.net/ORDO/Orphanet_168077
ClinVar:SLC35D1 1 http://www.orpha.net/ORDO/Orphanet_168079
ClinVar:GLUL 1 http://www.orpha.net/ORDO/Orphanet_168083
ClinVar:KCNA5 1 http://www.orpha.net/ORDO/Orphanet_168086
ClinVar:MC4R 1 http://www.orpha.net/ORDO/Orphanet_168091
ClinVar:ISCU 1 http://www.orpha.net/ORDO/Orphanet_168093
ClinVar:KYNU 1 http://www.orpha.net/ORDO/Orphanet_168099
ClinVar:RRM2B 1 http://www.orpha.net/ORDO/Orphanet_168101
ClinVar:SLC16A1 1 http://www.orpha.net/ORDO/Orphanet_168122
ClinVar:TSPAN7 1 http://www.orpha.net/ORDO/Orphanet_168155
ClinVar:LEFTY2 1 http://www.orpha.net/ORDO/Orphanet_168165
ClinVar:ADCY10 1 http://www.orpha.net/ORDO/Orphanet_168172
ClinVar:DUOXA2 1 http://www.orpha.net/ORDO/Orphanet_168179
ClinVar:TSEN54 1 http://www.orpha.net/ORDO/Orphanet_168268
ClinVar:FASTKD2 1 http://www.orpha.net/ORDO/Orphanet_168272
ClinVar:GLIS2 1 http://www.orpha.net/ORDO/Orphanet_168309
ClinVar:NR5A1 1 http://www.orpha.net/ORDO/Orphanet_168312
ClinVar:JRK 1 http://www.orpha.net/ORDO/Orphanet_168319
ClinVar:ARHGEF6 1 http://www.orpha.net/ORDO/Orphanet_168322
ClinVar:ZNF81 1 http://www.orpha.net/ORDO/Orphanet_168335
ClinVar:PCDH19 1 http://www.orpha.net/ORDO/Orphanet_168339
ClinVar:RPS14 1 http://www.orpha.net/ORDO/Orphanet_168342
ClinVar:INS 1 http://www.orpha.net/ORDO/Orphanet_168345
ClinVar:TG 1 http://www.orpha.net/ORDO/Orphanet_168347
ClinVar:RBMY1A1 1 http://www.orpha.net/ORDO/Orphanet_168351
ClinVar:LRAT 1 http://www.orpha.net/ORDO/Orphanet_168360
ClinVar:DMRT1 1 http://www.orpha.net/ORDO/Orphanet_168362
ClinVar:PDGFB 1 http://www.orpha.net/ORDO/Orphanet_168409
ClinVar:ASPSCR1 1 http://www.orpha.net/ORDO/Orphanet_168413
ClinVar:NUP214 1 http://www.orpha.net/ORDO/Orphanet_168420
ClinVar:DEK 1 http://www.orpha.net/ORDO/Orphanet_168426
ClinVar:C20ORF7 1 http://www.orpha.net/ORDO/Orphanet_169395
ClinVar:NDUFAF6 1 http://www.orpha.net/ORDO/Orphanet_169399
ClinVar:LRTOMT 1 http://www.orpha.net/ORDO/Orphanet_169402
ClinVar:TSEN34 1 http://www.orpha.net/ORDO/Orphanet_169405
ClinVar:TSEN2 1 http://www.orpha.net/ORDO/Orphanet_169410
ClinVar:TMEM70 1 http://www.orpha.net/ORDO/Orphanet_169415
ClinVar:SLC17A8 1 http://www.orpha.net/ORDO/Orphanet_169896
ClinVar:GLRX5 1 http://www.orpha.net/ORDO/Orphanet_169900
ClinVar:TBX15 1 http://www.orpha.net/ORDO/Orphanet_169905
ClinVar:DNAI2 1 http://www.orpha.net/ORDO/Orphanet_169908
ClinVar:PDE11A 1 http://www.orpha.net/ORDO/Orphanet_169910
ClinVar:EYS 1 http://www.orpha.net/ORDO/Orphanet_169936
ClinVar:LPIN1 1 http://www.orpha.net/ORDO/Orphanet_169944
ClinVar:GORAB 1 http://www.orpha.net/ORDO/Orphanet_169953
ClinVar:PRICKLE1 1 http://www.orpha.net/ORDO/Orphanet_169957
ClinVar:C7orf10 1 http://www.orpha.net/ORDO/Orphanet_169960
ClinVar:G6PC3 1 http://www.orpha.net/ORDO/Orphanet_171034
ClinVar:SLC2A9 1 http://www.orpha.net/ORDO/Orphanet_171045
ClinVar:RPS7 1 http://www.orpha.net/ORDO/Orphanet_171050
ClinVar:RPL5 1 http://www.orpha.net/ORDO/Orphanet_171052
ClinVar:RPL11 1 http://www.orpha.net/ORDO/Orphanet_171055
ClinVar:RPL35A 1 http://www.orpha.net/ORDO/Orphanet_171057
ClinVar:MMADHC 1 http://www.orpha.net/ORDO/Orphanet_171059
ClinVar:CAV1 1 http://www.orpha.net/ORDO/Orphanet_171064
ClinVar:DNAAF2 1 http://www.orpha.net/ORDO/Orphanet_171068
ClinVar:EGLN1 1 http://www.orpha.net/ORDO/Orphanet_171073
ClinVar:TRPV4 1 http://www.orpha.net/ORDO/Orphanet_171081
ClinVar:MYO5B 1 http://www.orpha.net/ORDO/Orphanet_171089
ClinVar:AFF1 1 http://www.orpha.net/ORDO/Orphanet_171634
ClinVar:TCF3 1 http://www.orpha.net/ORDO/Orphanet_171640
ClinVar:PBX1 1 http://www.orpha.net/ORDO/Orphanet_171647
ClinVar:STIL 1 http://www.orpha.net/ORDO/Orphanet_171649
ClinVar:CBFB 1 http://www.orpha.net/ORDO/Orphanet_171659
ClinVar:RUNX1T1 1 http://www.orpha.net/ORDO/Orphanet_171663
ClinVar:TMEM185A 1 http://www.orpha.net/ORDO/Orphanet_172996
ClinVar:SLC29A3 1 http://www.orpha.net/ORDO/Orphanet_173057
ClinVar:FGF8 1 http://www.orpha.net/ORDO/Orphanet_173149
ClinVar:TSFM 1 http://www.orpha.net/ORDO/Orphanet_173154
ClinVar:UTP4 1 http://www.orpha.net/ORDO/Orphanet_173184
ClinVar:H6PD 1 http://www.orpha.net/ORDO/Orphanet_173203
ClinVar:HSD11B1 1 http://www.orpha.net/ORDO/Orphanet_173206
ClinVar:TSPYL1 1 http://www.orpha.net/ORDO/Orphanet_173211
ClinVar:MAT1A 1 http://www.orpha.net/ORDO/Orphanet_173216
ClinVar:PRSS7 1 http://www.orpha.net/ORDO/Orphanet_173222
ClinVar:ZNF750 1 http://www.orpha.net/ORDO/Orphanet_173226
ClinVar:AFP 1 http://www.orpha.net/ORDO/Orphanet_173230
ClinVar:CYCS 1 http://www.orpha.net/ORDO/Orphanet_173240
ClinVar:SLC36A2 1 http://www.orpha.net/ORDO/Orphanet_173500
ClinVar:SLC6A20 1 http://www.orpha.net/ORDO/Orphanet_173505
ClinVar:SLC6A18 1 http://www.orpha.net/ORDO/Orphanet_173509
ClinVar:AMER1 1 http://www.orpha.net/ORDO/Orphanet_173515
ClinVar:AK2 1 http://www.orpha.net/ORDO/Orphanet_173523
ClinVar:RANBP2 1 http://www.orpha.net/ORDO/Orphanet_173526
ClinVar:DDR2 1 http://www.orpha.net/ORDO/Orphanet_173530
ClinVar:COG1 1 http://www.orpha.net/ORDO/Orphanet_173556
ClinVar:LMBRD1 1 http://www.orpha.net/ORDO/Orphanet_173562
ClinVar:IDH3B 1 http://www.orpha.net/ORDO/Orphanet_176228
ClinVar:RSPH9 1 http://www.orpha.net/ORDO/Orphanet_178077
ClinVar:RSPH4A 1 http://www.orpha.net/ORDO/Orphanet_178082
ClinVar:AP1S1 1 http://www.orpha.net/ORDO/Orphanet_178120
ClinVar:FA2H 1 http://www.orpha.net/ORDO/Orphanet_178127
ClinVar:ADAMTSL4 1 http://www.orpha.net/ORDO/Orphanet_178791
ClinVar:CNNM4 1 http://www.orpha.net/ORDO/Orphanet_178795
ClinVar:SPINT2 1 http://www.orpha.net/ORDO/Orphanet_178801
ClinVar:FERMT3 1 http://www.orpha.net/ORDO/Orphanet_178806
ClinVar:TAC3 1 http://www.orpha.net/ORDO/Orphanet_178814
ClinVar:TACR3 1 http://www.orpha.net/ORDO/Orphanet_178819
ClinVar:THAP1 1 http://www.orpha.net/ORDO/Orphanet_178822
ClinVar:SPATA7 1 http://www.orpha.net/ORDO/Orphanet_178826
ClinVar:ARL13B 1 http://www.orpha.net/ORDO/Orphanet_179401
ClinVar:NTNG1 1 http://www.orpha.net/ORDO/Orphanet_179408
ClinVar:ST14 1 http://www.orpha.net/ORDO/Orphanet_179413
ClinVar:KL 1 http://www.orpha.net/ORDO/Orphanet_179419
ClinVar:BMP2 1 http://www.orpha.net/ORDO/Orphanet_179459
ClinVar:CORO1A 1 http://www.orpha.net/ORDO/Orphanet_179462
ClinVar:RTN2 1 http://www.orpha.net/ORDO/Orphanet_180211
ClinVar:SLC33A1 1 http://www.orpha.net/ORDO/Orphanet_180215
ClinVar:DDHD1 1 http://www.orpha.net/ORDO/Orphanet_180273
ClinVar:FBXO7 1 http://www.orpha.net/ORDO/Orphanet_181111
ClinVar:EOMES 1 http://www.orpha.net/ORDO/Orphanet_181116
ClinVar:SECISBP2 1 http://www.orpha.net/ORDO/Orphanet_181119
ClinVar:SPATA16 1 http://www.orpha.net/ORDO/Orphanet_181121
ClinVar:ST3GAL5 1 http://www.orpha.net/ORDO/Orphanet_181124
ClinVar:KRT4 1 http://www.orpha.net/ORDO/Orphanet_181135
ClinVar:KRT13 1 http://www.orpha.net/ORDO/Orphanet_181140
ClinVar:MCEE 1 http://www.orpha.net/ORDO/Orphanet_181982
ClinVar:CHN1 1 http://www.orpha.net/ORDO/Orphanet_182553
ClinVar:FOXN1 1 http://www.orpha.net/ORDO/Orphanet_183879
ClinVar:MOGS 1 http://www.orpha.net/ORDO/Orphanet_183883
ClinVar:DPCR1 1 http://www.orpha.net/ORDO/Orphanet_183886
ClinVar:CEBPE 1 http://www.orpha.net/ORDO/Orphanet_183890
ClinVar:TALDO1 1 http://www.orpha.net/ORDO/Orphanet_183893
ClinVar:ADAMTSL2 1 http://www.orpha.net/ORDO/Orphanet_183895
ClinVar:NDUFA11 1 http://www.orpha.net/ORDO/Orphanet_183907
ClinVar:EPAS1 1 http://www.orpha.net/ORDO/Orphanet_183913
ClinVar:MT-TL2 1 http://www.orpha.net/ORDO/Orphanet_183924
ClinVar:NUP155 1 http://www.orpha.net/ORDO/Orphanet_183928
ClinVar:WNT10B 1 http://www.orpha.net/ORDO/Orphanet_183933
ClinVar:DYNC2H1 1 http://www.orpha.net/ORDO/Orphanet_183938
ClinVar:SYNGAP1 1 http://www.orpha.net/ORDO/Orphanet_188809
ClinVar:APOA2 1 http://www.orpha.net/ORDO/Orphanet_188814
ClinVar:LTBP3 1 http://www.orpha.net/ORDO/Orphanet_189127
ClinVar:MATR3 1 http://www.orpha.net/ORDO/Orphanet_189131
ClinVar:MBTPS2 1 http://www.orpha.net/ORDO/Orphanet_189135
ClinVar:HOXD10 1 http://www.orpha.net/ORDO/Orphanet_189174
ClinVar:VMA21 1 http://www.orpha.net/ORDO/Orphanet_189325
ClinVar:ALX3 1 http://www.orpha.net/ORDO/Orphanet_189330
ClinVar:MIR96 1 http://www.orpha.net/ORDO/Orphanet_189333
ClinVar:SMAD9 1 http://www.orpha.net/ORDO/Orphanet_189338
ClinVar:KCNJ10 1 http://www.orpha.net/ORDO/Orphanet_189344
ClinVar:LTBP2 1 http://www.orpha.net/ORDO/Orphanet_189348
ClinVar:GABRA3 1 http://www.orpha.net/ORDO/Orphanet_199890
ClinVar:CDH15 1 http://www.orpha.net/ORDO/Orphanet_199894
ClinVar:KIRREL3 1 http://www.orpha.net/ORDO/Orphanet_199900
ClinVar:SLC25A38 1 http://www.orpha.net/ORDO/Orphanet_200717
ClinVar:AIP 1 http://www.orpha.net/ORDO/Orphanet_200951
ClinVar:CDKN1B 1 http://www.orpha.net/ORDO/Orphanet_200995
ClinVar:PAX4 1 http://www.orpha.net/ORDO/Orphanet_201085
ClinVar:EGF 1 http://www.orpha.net/ORDO/Orphanet_201089
ClinVar:NRXN1 1 http://www.orpha.net/ORDO/Orphanet_201091
ClinVar:BARD1 1 http://www.orpha.net/ORDO/Orphanet_201093
ClinVar:GUCA1B 1 http://www.orpha.net/ORDO/Orphanet_201095
ClinVar:IYD 1 http://www.orpha.net/ORDO/Orphanet_201101
ClinVar:GPIHBP1 1 http://www.orpha.net/ORDO/Orphanet_201108
ClinVar:AKT2 1 http://www.orpha.net/ORDO/Orphanet_201112
ClinVar:MYD88 1 http://www.orpha.net/ORDO/Orphanet_201114
ClinVar:BIRC3 1 http://www.orpha.net/ORDO/Orphanet_201152
ClinVar:IGH@ 1 http://www.orpha.net/ORDO/Orphanet_201163
ClinVar:FOXP1 1 http://www.orpha.net/ORDO/Orphanet_201171
ClinVar:GHSR 1 http://www.orpha.net/ORDO/Orphanet_201252
ClinVar:SERPINF2 1 http://www.orpha.net/ORDO/Orphanet_201277
ClinVar:CD3G 1 http://www.orpha.net/ORDO/Orphanet_201284
ClinVar:SERPINA6 1 http://www.orpha.net/ORDO/Orphanet_201291
ClinVar:ORAI1 1 http://www.orpha.net/ORDO/Orphanet_201295
ClinVar:STIM1 1 http://www.orpha.net/ORDO/Orphanet_201300
ClinVar:COX4I2 1 http://www.orpha.net/ORDO/Orphanet_201488
ClinVar:BAG3 1 http://www.orpha.net/ORDO/Orphanet_201494
ClinVar:ICK 1 http://www.orpha.net/ORDO/Orphanet_201496
ClinVar:PITX1 1 http://www.orpha.net/ORDO/Orphanet_201502
ClinVar:SDHAF1 1 http://www.orpha.net/ORDO/Orphanet_201507
ClinVar:KITLG 1 http://www.orpha.net/ORDO/Orphanet_201509
ClinVar:ADAM9 1 http://www.orpha.net/ORDO/Orphanet_201516
ClinVar:IFRD1 1 http://www.orpha.net/ORDO/Orphanet_201522
ClinVar:COQ9 1 http://www.orpha.net/ORDO/Orphanet_201526
ClinVar:NDUFAF3 1 http://www.orpha.net/ORDO/Orphanet_201531
ClinVar:TUBB2B 1 http://www.orpha.net/ORDO/Orphanet_201538
ClinVar:OBSL1 1 http://www.orpha.net/ORDO/Orphanet_201543
ClinVar:KLHL7 1 http://www.orpha.net/ORDO/Orphanet_201546
ClinVar:GPC6 1 http://www.orpha.net/ORDO/Orphanet_201551
ClinVar:EMG1 1 http://www.orpha.net/ORDO/Orphanet_201553
ClinVar:RNASET2 1 http://www.orpha.net/ORDO/Orphanet_201560
ClinVar:SAMHD1 1 http://www.orpha.net/ORDO/Orphanet_201570
ClinVar:FGF9 1 http://www.orpha.net/ORDO/Orphanet_201587
ClinVar:HGF 1 http://www.orpha.net/ORDO/Orphanet_201589
ClinVar:PYCR1 1 http://www.orpha.net/ORDO/Orphanet_201595
ClinVar:ATF1 1 http://www.orpha.net/ORDO/Orphanet_201770
ClinVar:RAC2 1 http://www.orpha.net/ORDO/Orphanet_204411
ClinVar:NCF4 1 http://www.orpha.net/ORDO/Orphanet_204415
ClinVar:BCMO1 1 http://www.orpha.net/ORDO/Orphanet_204452
ClinVar:NPPA 1 http://www.orpha.net/ORDO/Orphanet_205584
ClinVar:GRIK2 1 http://www.orpha.net/ORDO/Orphanet_205590
ClinVar:NHP2 1 http://www.orpha.net/ORDO/Orphanet_205594
ClinVar:SEC23B 1 http://www.orpha.net/ORDO/Orphanet_205932
ClinVar:MT-TP 1 http://www.orpha.net/ORDO/Orphanet_205934
ClinVar:ZFP57 1 http://www.orpha.net/ORDO/Orphanet_206724
ClinVar:SLC27A4 1 http://www.orpha.net/ORDO/Orphanet_208329
ClinVar:PDE6C 1 http://www.orpha.net/ORDO/Orphanet_208333
ClinVar:MMP9 1 http://www.orpha.net/ORDO/Orphanet_208342
ClinVar:VRK1 1 http://www.orpha.net/ORDO/Orphanet_208345
ClinVar:INPP5E 1 http://www.orpha.net/ORDO/Orphanet_208347
ClinVar:SYNE2 1 http://www.orpha.net/ORDO/Orphanet_209271
ClinVar:SDHAF2 1 http://www.orpha.net/ORDO/Orphanet_209279
ClinVar:DICER1 1 http://www.orpha.net/ORDO/Orphanet_209285
ClinVar:TRPM4 1 http://www.orpha.net/ORDO/Orphanet_209301
ClinVar:HUWE1 1 http://www.orpha.net/ORDO/Orphanet_209314
ClinVar:CREB3L2 1 http://www.orpha.net/ORDO/Orphanet_209325
ClinVar:CREB3L1 1 http://www.orpha.net/ORDO/Orphanet_209329
ClinVar:PRPH 1 http://www.orpha.net/ORDO/Orphanet_209470
ClinVar:EPHA2 1 http://www.orpha.net/ORDO/Orphanet_209474
ClinVar:CSF2RA 1 http://www.orpha.net/ORDO/Orphanet_209477
ClinVar:GDF6 1 http://www.orpha.net/ORDO/Orphanet_209481
ClinVar:NEK8 1 http://www.orpha.net/ORDO/Orphanet_209484
ClinVar:HLA-DQB1 1 http://www.orpha.net/ORDO/Orphanet_211008
ClinVar:PDYN 1 http://www.orpha.net/ORDO/Orphanet_212594
ClinVar:AFG3L2 1 http://www.orpha.net/ORDO/Orphanet_212604
ClinVar:CNTN1 1 http://www.orpha.net/ORDO/Orphanet_212878
ClinVar:CYP7A1 1 http://www.orpha.net/ORDO/Orphanet_212882
ClinVar:FOXP2 1 http://www.orpha.net/ORDO/Orphanet_212885
ClinVar:SLC1A3 1 http://www.orpha.net/ORDO/Orphanet_212892
ClinVar:PLEKHM1 1 http://www.orpha.net/ORDO/Orphanet_212898
ClinVar:IL1RN 1 http://www.orpha.net/ORDO/Orphanet_212902
ClinVar:FOXF1 1 http://www.orpha.net/ORDO/Orphanet_212909
ClinVar:UROC1 1 http://www.orpha.net/ORDO/Orphanet_212917
ClinVar:AP4M1 1 http://www.orpha.net/ORDO/Orphanet_212921
ClinVar:FTO 1 http://www.orpha.net/ORDO/Orphanet_212927
ClinVar:PRKRA 1 http://www.orpha.net/ORDO/Orphanet_213048
ClinVar:PPIB 1 http://www.orpha.net/ORDO/Orphanet_217124
ClinVar:FAM134B 1 http://www.orpha.net/ORDO/Orphanet_218033
ClinVar:CANT1 1 http://www.orpha.net/ORDO/Orphanet_218036
ClinVar:RBM20 1 http://www.orpha.net/ORDO/Orphanet_218040
ClinVar:DNAAF1 1 http://www.orpha.net/ORDO/Orphanet_218045
ClinVar:TRAPPC9 1 http://www.orpha.net/ORDO/Orphanet_218049
ClinVar:SNTA1 1 http://www.orpha.net/ORDO/Orphanet_218358
ClinVar:HLA-A 1 http://www.orpha.net/ORDO/Orphanet_218376
ClinVar:GPD1L 1 http://www.orpha.net/ORDO/Orphanet_218672
ClinVar:SCN3B 1 http://www.orpha.net/ORDO/Orphanet_218675
ClinVar:IL31RA 1 http://www.orpha.net/ORDO/Orphanet_220737
ClinVar:CCBE1 1 http://www.orpha.net/ORDO/Orphanet_220744
ClinVar:SHOC2 1 http://www.orpha.net/ORDO/Orphanet_220877
ClinVar:HRG 1 http://www.orpha.net/ORDO/Orphanet_220905
ClinVar:FREM1 1 http://www.orpha.net/ORDO/Orphanet_220909
ClinVar:RIN2 1 http://www.orpha.net/ORDO/Orphanet_220916
ClinVar:FOLR1 1 http://www.orpha.net/ORDO/Orphanet_220919
ClinVar:DOCK8 1 http://www.orpha.net/ORDO/Orphanet_220922
ClinVar:DSC3 1 http://www.orpha.net/ORDO/Orphanet_220928
ClinVar:C1QA 1 http://www.orpha.net/ORDO/Orphanet_221162
ClinVar:C1QB 1 http://www.orpha.net/ORDO/Orphanet_221166
ClinVar:C1QC 1 http://www.orpha.net/ORDO/Orphanet_221168
ClinVar:C1S 1 http://www.orpha.net/ORDO/Orphanet_221171
ClinVar:CD59 1 http://www.orpha.net/ORDO/Orphanet_221173
ClinVar:CD79A 1 http://www.orpha.net/ORDO/Orphanet_221180
ClinVar:CD8A 1 http://www.orpha.net/ORDO/Orphanet_221184
ClinVar:CFD 1 http://www.orpha.net/ORDO/Orphanet_221187
ClinVar:IGHG2 1 http://www.orpha.net/ORDO/Orphanet_221192
ClinVar:LMNB2 1 http://www.orpha.net/ORDO/Orphanet_221339
ClinVar:TMEM216 1 http://www.orpha.net/ORDO/Orphanet_221342
ClinVar:NRAS 1 http://www.orpha.net/ORDO/Orphanet_221346
ClinVar:SNRNP200 1 http://www.orpha.net/ORDO/Orphanet_221348
ClinVar:LOXHD1 1 http://www.orpha.net/ORDO/Orphanet_221356
ClinVar:PLAU 1 http://www.orpha.net/ORDO/Orphanet_223447
ClinVar:NIPAL4 1 http://www.orpha.net/ORDO/Orphanet_223546
ClinVar:HVSL1 1 http://www.orpha.net/ORDO/Orphanet_225243
ClinVar:LTBP4 1 http://www.orpha.net/ORDO/Orphanet_225264
ClinVar:TRPM1 1 http://www.orpha.net/ORDO/Orphanet_225280
ClinVar:CARD9 1 http://www.orpha.net/ORDO/Orphanet_225286
ClinVar:CLEC7A 1 http://www.orpha.net/ORDO/Orphanet_225288
ClinVar:WDR72 1 http://www.orpha.net/ORDO/Orphanet_225293
ClinVar:NEXN 1 http://www.orpha.net/ORDO/Orphanet_225306
ClinVar:GRXCR1 1 http://www.orpha.net/ORDO/Orphanet_225329
ClinVar:RAB39B 1 http://www.orpha.net/ORDO/Orphanet_225332
ClinVar:RPS10 1 http://www.orpha.net/ORDO/Orphanet_225334
ClinVar:RPS26 1 http://www.orpha.net/ORDO/Orphanet_225337
ClinVar:TSPAN12 1 http://www.orpha.net/ORDO/Orphanet_225339
ClinVar:SH3PXD2B 1 http://www.orpha.net/ORDO/Orphanet_225343
ClinVar:SMARCA4 1 http://www.orpha.net/ORDO/Orphanet_225351
ClinVar:KRT6C 1 http://www.orpha.net/ORDO/Orphanet_225368
ClinVar:TRIP11 1 http://www.orpha.net/ORDO/Orphanet_225372
ClinVar:INF2 1 http://www.orpha.net/ORDO/Orphanet_225380
ClinVar:DHODH 1 http://www.orpha.net/ORDO/Orphanet_225386
ClinVar:GP6 1 http://www.orpha.net/ORDO/Orphanet_225404
ClinVar:TUBB3 1 http://www.orpha.net/ORDO/Orphanet_226013
ClinVar:PDE8B 1 http://www.orpha.net/ORDO/Orphanet_226016
ClinVar:EPCAM 1 http://www.orpha.net/ORDO/Orphanet_226018
ClinVar:SYP 1 http://www.orpha.net/ORDO/Orphanet_226044
ClinVar:CLCN2 1 http://www.orpha.net/ORDO/Orphanet_226047
ClinVar:EHMT1 1 http://www.orpha.net/ORDO/Orphanet_226051
ClinVar:CHST14 1 http://www.orpha.net/ORDO/Orphanet_226058
ClinVar:CD247 1 http://www.orpha.net/ORDO/Orphanet_226144
ClinVar:SLC52A3 1 http://www.orpha.net/ORDO/Orphanet_227053
ClinVar:FLVCR2 1 http://www.orpha.net/ORDO/Orphanet_227058
ClinVar:PTHLH 1 http://www.orpha.net/ORDO/Orphanet_227063
ClinVar:TPRN 1 http://www.orpha.net/ORDO/Orphanet_227071
ClinVar:MYBPC1 1 http://www.orpha.net/ORDO/Orphanet_227077
ClinVar:TMEM127 1 http://www.orpha.net/ORDO/Orphanet_227079
ClinVar:XPNPEP3 1 http://www.orpha.net/ORDO/Orphanet_227083
ClinVar:PTRF 1 http://www.orpha.net/ORDO/Orphanet_227086
ClinVar:VIPAR 1 http://www.orpha.net/ORDO/Orphanet_227089
ClinVar:SERPINH1 1 http://www.orpha.net/ORDO/Orphanet_227095
ClinVar:STXBP2 1 http://www.orpha.net/ORDO/Orphanet_227102
ClinVar:BLK 1 http://www.orpha.net/ORDO/Orphanet_227384
ClinVar:HSPB3 1 http://www.orpha.net/ORDO/Orphanet_227387
ClinVar:SLC34A1 1 http://www.orpha.net/ORDO/Orphanet_227390
ClinVar:PTPRQ 1 http://www.orpha.net/ORDO/Orphanet_227397
ClinVar:UNC119 1 http://www.orpha.net/ORDO/Orphanet_227401
ClinVar:RAD51C 1 http://www.orpha.net/ORDO/Orphanet_229784
ClinVar:PNKP 1 http://www.orpha.net/ORDO/Orphanet_229787
ClinVar:KRT74 1 http://www.orpha.net/ORDO/Orphanet_229791
ClinVar:APCDD1 1 http://www.orpha.net/ORDO/Orphanet_229796
ClinVar:KDR 1 http://www.orpha.net/ORDO/Orphanet_229801
ClinVar:WNT5A 1 http://www.orpha.net/ORDO/Orphanet_231387
ClinVar:SETBP1 1 http://www.orpha.net/ORDO/Orphanet_231397
ClinVar:FOXI1 1 http://www.orpha.net/ORDO/Orphanet_231422
ClinVar:TNFRSF13C 1 http://www.orpha.net/ORDO/Orphanet_231494
ClinVar:PIGA 1 http://www.orpha.net/ORDO/Orphanet_231527
ClinVar:DAO 1 http://www.orpha.net/ORDO/Orphanet_231605
ClinVar:TMEM126A 1 http://www.orpha.net/ORDO/Orphanet_232171
ClinVar:DPP6 1 http://www.orpha.net/ORDO/Orphanet_232182
ClinVar:AARS 1 http://www.orpha.net/ORDO/Orphanet_232194
ClinVar:NKX3-2 1 http://www.orpha.net/ORDO/Orphanet_232223
ClinVar:TMCO1 1 http://www.orpha.net/ORDO/Orphanet_232228
ClinVar:MEF2C 1 http://www.orpha.net/ORDO/Orphanet_232232
ClinVar:ITCH 1 http://www.orpha.net/ORDO/Orphanet_232245
ClinVar:IQSEC2 1 http://www.orpha.net/ORDO/Orphanet_232248
ClinVar:C2orf71 1 http://www.orpha.net/ORDO/Orphanet_233016
ClinVar:SERPINB6 1 http://www.orpha.net/ORDO/Orphanet_233019
ClinVar:RBM10 1 http://www.orpha.net/ORDO/Orphanet_233025
ClinVar:LRP4 1 http://www.orpha.net/ORDO/Orphanet_233032
ClinVar:FKBP10 1 http://www.orpha.net/ORDO/Orphanet_233035
ClinVar:VIM 1 http://www.orpha.net/ORDO/Orphanet_233060
ClinVar:AGRN 1 http://www.orpha.net/ORDO/Orphanet_233062
ClinVar:MSMB 1 http://www.orpha.net/ORDO/Orphanet_233066
ClinVar:CEBPA 1 http://www.orpha.net/ORDO/Orphanet_233165
ClinVar:HBG1 1 http://www.orpha.net/ORDO/Orphanet_233184
ClinVar:HBG2 1 http://www.orpha.net/ORDO/Orphanet_233186
ClinVar:KCNJ5 1 http://www.orpha.net/ORDO/Orphanet_235181
ClinVar:SPTAN1 1 http://www.orpha.net/ORDO/Orphanet_235187
ClinVar:HPSE2 1 http://www.orpha.net/ORDO/Orphanet_235189
ClinVar:MS4A1 1 http://www.orpha.net/ORDO/Orphanet_235193
ClinVar:CD81 1 http://www.orpha.net/ORDO/Orphanet_235199
ClinVar:CRYGS 1 http://www.orpha.net/ORDO/Orphanet_235204
ClinVar:IFT122 1 http://www.orpha.net/ORDO/Orphanet_235207
ClinVar:ETV4 1 http://www.orpha.net/ORDO/Orphanet_235504
ClinVar:SP7 1 http://www.orpha.net/ORDO/Orphanet_236638
ClinVar:CD2AP 1 http://www.orpha.net/ORDO/Orphanet_236656
ClinVar:CD79B 1 http://www.orpha.net/ORDO/Orphanet_236967
ClinVar:BLNK 1 http://www.orpha.net/ORDO/Orphanet_236971
ClinVar:TBX20 1 http://www.orpha.net/ORDO/Orphanet_237462
ClinVar:TLL1 1 http://www.orpha.net/ORDO/Orphanet_237464
ClinVar:TTC37 1 http://www.orpha.net/ORDO/Orphanet_238544
ClinVar:HDAC4 1 http://www.orpha.net/ORDO/Orphanet_238991
ClinVar:PDE6G 1 http://www.orpha.net/ORDO/Orphanet_238998
ClinVar:IMPG2 1 http://www.orpha.net/ORDO/Orphanet_239001
ClinVar:KMT2D 1 http://www.orpha.net/ORDO/Orphanet_239011
ClinVar:TWIST2 1 http://www.orpha.net/ORDO/Orphanet_239021
ClinVar:SPIB 1 http://www.orpha.net/ORDO/Orphanet_239862
ClinVar:IL12A 1 http://www.orpha.net/ORDO/Orphanet_239865
ClinVar:IRF5 1 http://www.orpha.net/ORDO/Orphanet_239872
ClinVar:TNPO3 1 http://www.orpha.net/ORDO/Orphanet_239874
ClinVar:MMEL1 1 http://www.orpha.net/ORDO/Orphanet_239881
ClinVar:NFIX 1 http://www.orpha.net/ORDO/Orphanet_239888
ClinVar:PON1 1 http://www.orpha.net/ORDO/Orphanet_239891
ClinVar:PON2 1 http://www.orpha.net/ORDO/Orphanet_239894
ClinVar:PON3 1 http://www.orpha.net/ORDO/Orphanet_239896
ClinVar:PDZD7 1 http://www.orpha.net/ORDO/Orphanet_239898
ClinVar:TBC1D24 1 http://www.orpha.net/ORDO/Orphanet_239943
ClinVar:WDR62 1 http://www.orpha.net/ORDO/Orphanet_239949
ClinVar:WDR35 1 http://www.orpha.net/ORDO/Orphanet_239955
ClinVar:OCLN 1 http://www.orpha.net/ORDO/Orphanet_239959
ClinVar:FAM161A 1 http://www.orpha.net/ORDO/Orphanet_239962
ClinVar:ZNF513 1 http://www.orpha.net/ORDO/Orphanet_239967
ClinVar:ABHD12 1 http://www.orpha.net/ORDO/Orphanet_239970
ClinVar:GPSM2 1 http://www.orpha.net/ORDO/Orphanet_240651
ClinVar:YARS2 1 http://www.orpha.net/ORDO/Orphanet_240658
ClinVar:KLF1 1 http://www.orpha.net/ORDO/Orphanet_240663
ClinVar:CEP152 1 http://www.orpha.net/ORDO/Orphanet_240669
ClinVar:APOL1 1 http://www.orpha.net/ORDO/Orphanet_240672
ClinVar:CBX2 1 http://www.orpha.net/ORDO/Orphanet_240686
ClinVar:CITED2 1 http://www.orpha.net/ORDO/Orphanet_240691
ClinVar:TYMS 1 http://www.orpha.net/ORDO/Orphanet_241969
ClinVar:COMT 1 http://www.orpha.net/ORDO/Orphanet_241992
ClinVar:SLCO1B1 1 http://www.orpha.net/ORDO/Orphanet_241999
ClinVar:RAD50 1 http://www.orpha.net/ORDO/Orphanet_242004
ClinVar:HOGA1 1 http://www.orpha.net/ORDO/Orphanet_242313
ClinVar:DISP1 1 http://www.orpha.net/ORDO/Orphanet_242325
ClinVar:CBL 1 http://www.orpha.net/ORDO/Orphanet_242915
ClinVar:SRD5A3 1 http://www.orpha.net/ORDO/Orphanet_242919
ClinVar:TJP2 1 http://www.orpha.net/ORDO/Orphanet_242924
ClinVar:C12orf65 1 http://www.orpha.net/ORDO/Orphanet_242929
ClinVar:MBD5 1 http://www.orpha.net/ORDO/Orphanet_244206
ClinVar:DMGDH 1 http://www.orpha.net/ORDO/Orphanet_244279
ClinVar:SLC9A3R1 1 http://www.orpha.net/ORDO/Orphanet_244322
ClinVar:SDCCAG8 1 http://www.orpha.net/ORDO/Orphanet_244364
ClinVar:ZNF592 1 http://www.orpha.net/ORDO/Orphanet_244368
ClinVar:NUBPL 1 http://www.orpha.net/ORDO/Orphanet_244371
ClinVar:FOXRED1 1 http://www.orpha.net/ORDO/Orphanet_244375
ClinVar:SLC24A1 1 http://www.orpha.net/ORDO/Orphanet_244378
ClinVar:CDHR1 1 http://www.orpha.net/ORDO/Orphanet_244385
ClinVar:SCARF2 1 http://www.orpha.net/ORDO/Orphanet_244390
ClinVar:BMPER 1 http://www.orpha.net/ORDO/Orphanet_244395
ClinVar:SPTLC2 1 http://www.orpha.net/ORDO/Orphanet_244400
ClinVar:WDR11 1 http://www.orpha.net/ORDO/Orphanet_244406
ClinVar:RFT1 1 http://www.orpha.net/ORDO/Orphanet_244547
ClinVar:AIFM1 1 http://www.orpha.net/ORDO/Orphanet_244686
ClinVar:SLC6A3 1 http://www.orpha.net/ORDO/Orphanet_244693
ClinVar:BAAT 1 http://www.orpha.net/ORDO/Orphanet_244706
ClinVar:ITK 1 http://www.orpha.net/ORDO/Orphanet_244711
ClinVar:C2orf34 1 http://www.orpha.net/ORDO/Orphanet_244716
ClinVar:PPM1B 1 http://www.orpha.net/ORDO/Orphanet_244720
ClinVar:IL10RA 1 http://www.orpha.net/ORDO/Orphanet_244737
ClinVar:IL10RB 1 http://www.orpha.net/ORDO/Orphanet_244742
ClinVar:DCC 1 http://www.orpha.net/ORDO/Orphanet_244810
ClinVar:CCDC39 1 http://www.orpha.net/ORDO/Orphanet_246552
ClinVar:CCDC40 1 http://www.orpha.net/ORDO/Orphanet_246554
ClinVar:FLVCR1 1 http://www.orpha.net/ORDO/Orphanet_246647
ClinVar:MYLK 1 http://www.orpha.net/ORDO/Orphanet_246653
ClinVar:NTRK3 1 http://www.orpha.net/ORDO/Orphanet_246681
ClinVar:CREB1 1 http://www.orpha.net/ORDO/Orphanet_246689
ClinVar:IDH2 1 http://www.orpha.net/ORDO/Orphanet_247145
ClinVar:PDCD1 1 http://www.orpha.net/ORDO/Orphanet_247147
ClinVar:WDPCP 1 http://www.orpha.net/ORDO/Orphanet_247155
ClinVar:MAPK10 1 http://www.orpha.net/ORDO/Orphanet_248276
ClinVar:HDAC6 1 http://www.orpha.net/ORDO/Orphanet_248481
ClinVar:HMGA2 1 http://www.orpha.net/ORDO/Orphanet_248487
ClinVar:POLR1D 1 http://www.orpha.net/ORDO/Orphanet_250168
ClinVar:MAGT1 1 http://www.orpha.net/ORDO/Orphanet_250175
ClinVar:GDF3 1 http://www.orpha.net/ORDO/Orphanet_250181
ClinVar:POLR1C 1 http://www.orpha.net/ORDO/Orphanet_250183
ClinVar:SEPSECS 1 http://www.orpha.net/ORDO/Orphanet_251270
ClinVar:PIGV 1 http://www.orpha.net/ORDO/Orphanet_251503
ClinVar:PVRL4 1 http://www.orpha.net/ORDO/Orphanet_251683
ClinVar:RP1L1 1 http://www.orpha.net/ORDO/Orphanet_251688
ClinVar:MASP1 1 http://www.orpha.net/ORDO/Orphanet_252117
ClinVar:NDUFA2 1 http://www.orpha.net/ORDO/Orphanet_252455
ClinVar:PDSS1 1 http://www.orpha.net/ORDO/Orphanet_252458
ClinVar:MSRB3 1 http://www.orpha.net/ORDO/Orphanet_258532
ClinVar:PLCB1 1 http://www.orpha.net/ORDO/Orphanet_258534
ClinVar:KBTBD13 1 http://www.orpha.net/ORDO/Orphanet_258542
ClinVar:PSMB8 1 http://www.orpha.net/ORDO/Orphanet_258610
ClinVar:NEK1 1 http://www.orpha.net/ORDO/Orphanet_258621
ClinVar:AIMP1 1 http://www.orpha.net/ORDO/Orphanet_258625
ClinVar:SMOC1 1 http://www.orpha.net/ORDO/Orphanet_258631
ClinVar:ANO6 1 http://www.orpha.net/ORDO/Orphanet_258633
ClinVar:SLX4 1 http://www.orpha.net/ORDO/Orphanet_259354
ClinVar:ACP5 1 http://www.orpha.net/ORDO/Orphanet_259358
ClinVar:DHDDS 1 http://www.orpha.net/ORDO/Orphanet_259361
ClinVar:GFPT1 1 http://www.orpha.net/ORDO/Orphanet_259368
ClinVar:ILDR1 1 http://www.orpha.net/ORDO/Orphanet_259373
ClinVar:SMAD3 1 http://www.orpha.net/ORDO/Orphanet_260331
ClinVar:ORC4 1 http://www.orpha.net/ORDO/Orphanet_260335
ClinVar:ORC6 1 http://www.orpha.net/ORDO/Orphanet_260339
ClinVar:CDT1 1 http://www.orpha.net/ORDO/Orphanet_260341
ClinVar:CDC6 1 http://www.orpha.net/ORDO/Orphanet_260345
ClinVar:TTC21B 1 http://www.orpha.net/ORDO/Orphanet_260351
ClinVar:TTC19 1 http://www.orpha.net/ORDO/Orphanet_260358
ClinVar:TCTN2 1 http://www.orpha.net/ORDO/Orphanet_260361
ClinVar:ANKRD26 1 http://www.orpha.net/ORDO/Orphanet_260545
ClinVar:MAP3K1 1 http://www.orpha.net/ORDO/Orphanet_260583
ClinVar:ORC1 1 http://www.orpha.net/ORDO/Orphanet_260588
ClinVar:GLYCTK 1 http://www.orpha.net/ORDO/Orphanet_260595
ClinVar:COLEC11 1 http://www.orpha.net/ORDO/Orphanet_260599
ClinVar:RNF213 1 http://www.orpha.net/ORDO/Orphanet_260602
ClinVar:TUBA8 1 http://www.orpha.net/ORDO/Orphanet_260889
ClinVar:ATIC 1 http://www.orpha.net/ORDO/Orphanet_260894
ClinVar:MYB 1 http://www.orpha.net/ORDO/Orphanet_263765
ClinVar:JPH2 1 http://www.orpha.net/ORDO/Orphanet_264428
ClinVar:HEPACAM 1 http://www.orpha.net/ORDO/Orphanet_264482
ClinVar:LIPN 1 http://www.orpha.net/ORDO/Orphanet_264501
ClinVar:CHRNA7 1 http://www.orpha.net/ORDO/Orphanet_264663
ClinVar:PRSS56 1 http://www.orpha.net/ORDO/Orphanet_265147
ClinVar:RNU4ATAC 1 http://www.orpha.net/ORDO/Orphanet_265258
ClinVar:DPY19L2 1 http://www.orpha.net/ORDO/Orphanet_265487
ClinVar:SERPINF1 1 http://www.orpha.net/ORDO/Orphanet_265490
ClinVar:TECR 1 http://www.orpha.net/ORDO/Orphanet_265497
ClinVar:CEACAM16 1 http://www.orpha.net/ORDO/Orphanet_265505
ClinVar:POP1 1 http://www.orpha.net/ORDO/Orphanet_265545
ClinVar:IL17RA 1 http://www.orpha.net/ORDO/Orphanet_266109
ClinVar:IL17F 1 http://www.orpha.net/ORDO/Orphanet_266117
ClinVar:GRIN2B 1 http://www.orpha.net/ORDO/Orphanet_266126
ClinVar:PRPF6 1 http://www.orpha.net/ORDO/Orphanet_266150
ClinVar:WRAP53 1 http://www.orpha.net/ORDO/Orphanet_266162
ClinVar:KARS 1 http://www.orpha.net/ORDO/Orphanet_266184
ClinVar:ARHGAP31 1 http://www.orpha.net/ORDO/Orphanet_267088
ClinVar:COA5 1 http://www.orpha.net/ORDO/Orphanet_267102
ClinVar:MRPS16 1 http://www.orpha.net/ORDO/Orphanet_267232
ClinVar:TUFM 1 http://www.orpha.net/ORDO/Orphanet_267235
ClinVar:ATP5E 1 http://www.orpha.net/ORDO/Orphanet_267365
ClinVar:MT-TV 1 http://www.orpha.net/ORDO/Orphanet_267449
ClinVar:RAB18 1 http://www.orpha.net/ORDO/Orphanet_268016
ClinVar:MUC5B 1 http://www.orpha.net/ORDO/Orphanet_268049
ClinVar:HARS2 1 http://www.orpha.net/ORDO/Orphanet_268052
ClinVar:KIF7 1 http://www.orpha.net/ORDO/Orphanet_268061
ClinVar:UPK3A 1 http://www.orpha.net/ORDO/Orphanet_268073
ClinVar:DNAL1 1 http://www.orpha.net/ORDO/Orphanet_268087
ClinVar:ZBTB24 1 http://www.orpha.net/ORDO/Orphanet_268103
ClinVar:TET2 1 http://www.orpha.net/ORDO/Orphanet_268325
ClinVar:KCTD7 1 http://www.orpha.net/ORDO/Orphanet_268343
ClinVar:NCSTN 1 http://www.orpha.net/ORDO/Orphanet_268347
ClinVar:PSENEN 1 http://www.orpha.net/ORDO/Orphanet_268351
ClinVar:BRCC3 1 http://www.orpha.net/ORDO/Orphanet_268795
ClinVar:SMPX 1 http://www.orpha.net/ORDO/Orphanet_268803
ClinVar:IGHV3-21 1 http://www.orpha.net/ORDO/Orphanet_269544
ClinVar:AARS2 1 http://www.orpha.net/ORDO/Orphanet_269639
ClinVar:FAM20A 1 http://www.orpha.net/ORDO/Orphanet_269646
ClinVar:GYG1 1 http://www.orpha.net/ORDO/Orphanet_269704
ClinVar:COG5 1 http://www.orpha.net/ORDO/Orphanet_269752
ClinVar:DPM3 1 http://www.orpha.net/ORDO/Orphanet_269756
ClinVar:COG4 1 http://www.orpha.net/ORDO/Orphanet_269762
ClinVar:SFTPA2 1 http://www.orpha.net/ORDO/Orphanet_269879
ClinVar:YWHAE 1 http://www.orpha.net/ORDO/Orphanet_269928
ClinVar:LMF1 1 http://www.orpha.net/ORDO/Orphanet_269953
ClinVar:IFT43 1 http://www.orpha.net/ORDO/Orphanet_270002
ClinVar:IGKC 1 http://www.orpha.net/ORDO/Orphanet_270009
ClinVar:DYRK1A 1 http://www.orpha.net/ORDO/Orphanet_270014
ClinVar:CEP57 1 http://www.orpha.net/ORDO/Orphanet_270019
ClinVar:DNMT1 1 http://www.orpha.net/ORDO/Orphanet_270026
ClinVar:MYO1E 1 http://www.orpha.net/ORDO/Orphanet_270032
ClinVar:GAD1 1 http://www.orpha.net/ORDO/Orphanet_270043
ClinVar:AP4E1 1 http://www.orpha.net/ORDO/Orphanet_270045
ClinVar:AP4B1 1 http://www.orpha.net/ORDO/Orphanet_270048
ClinVar:AP4S1 1 http://www.orpha.net/ORDO/Orphanet_270052
ClinVar:PRRX1 1 http://www.orpha.net/ORDO/Orphanet_270071
ClinVar:GIPC3 1 http://www.orpha.net/ORDO/Orphanet_270208
ClinVar:PRDM5 1 http://www.orpha.net/ORDO/Orphanet_270336
ClinVar:FYCO1 1 http://www.orpha.net/ORDO/Orphanet_270347
ClinVar:PLCD1 1 http://www.orpha.net/ORDO/Orphanet_270352
ClinVar:B9D1 1 http://www.orpha.net/ORDO/Orphanet_270354
ClinVar:KIAA1033 1 http://www.orpha.net/ORDO/Orphanet_270389
ClinVar:PTPRO 1 http://www.orpha.net/ORDO/Orphanet_270424
ClinVar:DIABLO 1 http://www.orpha.net/ORDO/Orphanet_270442
ClinVar:CCDC8 1 http://www.orpha.net/ORDO/Orphanet_270465
ClinVar:SPECC1L 1 http://www.orpha.net/ORDO/Orphanet_270468
ClinVar:ANKRD11 1 http://www.orpha.net/ORDO/Orphanet_273977
ClinVar:DCXR 1 http://www.orpha.net/ORDO/Orphanet_274023
ClinVar:GATA2 1 http://www.orpha.net/ORDO/Orphanet_274222
ClinVar:TCTN1 1 http://www.orpha.net/ORDO/Orphanet_274226
ClinVar:MAK 1 http://www.orpha.net/ORDO/Orphanet_274231
ClinVar:NBEAL2 1 http://www.orpha.net/ORDO/Orphanet_279603
ClinVar:DOCK6 1 http://www.orpha.net/ORDO/Orphanet_279606
ClinVar:TGM6 1 http://www.orpha.net/ORDO/Orphanet_279644
ClinVar:NOP56 1 http://www.orpha.net/ORDO/Orphanet_279649
ClinVar:CATSPER1 1 http://www.orpha.net/ORDO/Orphanet_279661
ClinVar:B9D2 1 http://www.orpha.net/ORDO/Orphanet_279753
ClinVar:MAN1B1 1 http://www.orpha.net/ORDO/Orphanet_279756
ClinVar:MED23 1 http://www.orpha.net/ORDO/Orphanet_279764
ClinVar:KIF1A 1 http://www.orpha.net/ORDO/Orphanet_279771
ClinVar:CDON 1 http://www.orpha.net/ORDO/Orphanet_279776
ClinVar:DNAJC5 1 http://www.orpha.net/ORDO/Orphanet_279781
ClinVar:CYP24A1 1 http://www.orpha.net/ORDO/Orphanet_279838
ClinVar:ALG11 1 http://www.orpha.net/ORDO/Orphanet_280090
ClinVar:TUBB1 1 http://www.orpha.net/ORDO/Orphanet_280099
ClinVar:SQSTM1 1 http://www.orpha.net/ORDO/Orphanet_280122
ClinVar:LCK 1 http://www.orpha.net/ORDO/Orphanet_280151
ClinVar:CD320 1 http://www.orpha.net/ORDO/Orphanet_280190
ClinVar:DAG1 1 http://www.orpha.net/ORDO/Orphanet_280347
ClinVar:PLIN1 1 http://www.orpha.net/ORDO/Orphanet_280360
ClinVar:ERLIN2 1 http://www.orpha.net/ORDO/Orphanet_280390
ClinVar:COQ6 1 http://www.orpha.net/ORDO/Orphanet_280409
ClinVar:DDX11 1 http://www.orpha.net/ORDO/Orphanet_280563
ClinVar:BANF1 1 http://www.orpha.net/ORDO/Orphanet_280581
ClinVar:IMPAD1 1 http://www.orpha.net/ORDO/Orphanet_280591
ClinVar:GOSR2 1 http://www.orpha.net/ORDO/Orphanet_280623
ClinVar:PIGN 1 http://www.orpha.net/ORDO/Orphanet_280636
ClinVar:LAMC3 1 http://www.orpha.net/ORDO/Orphanet_280647
ClinVar:FZD6 1 http://www.orpha.net/ORDO/Orphanet_280659
ClinVar:PLDN 1 http://www.orpha.net/ORDO/Orphanet_280669
ClinVar:CHKB 1 http://www.orpha.net/ORDO/Orphanet_280675
ClinVar:UBQLN2 1 http://www.orpha.net/ORDO/Orphanet_281347
ClinVar:POMP 1 http://www.orpha.net/ORDO/Orphanet_281391
ClinVar:IL36RN 1 http://www.orpha.net/ORDO/Orphanet_281457
ClinVar:AKT1 1 http://www.orpha.net/ORDO/Orphanet_281472
ClinVar:ASXL1 1 http://www.orpha.net/ORDO/Orphanet_281482
ClinVar:HS6ST1 1 http://www.orpha.net/ORDO/Orphanet_281487
ClinVar:NDE1 1 http://www.orpha.net/ORDO/Orphanet_281616
ClinVar:BLVRA 1 http://www.orpha.net/ORDO/Orphanet_281690
ClinVar:ARD1A 1 http://www.orpha.net/ORDO/Orphanet_281695
ClinVar:HBD 1 http://www.orpha.net/ORDO/Orphanet_281857
ClinVar:XPNPEP2 1 http://www.orpha.net/ORDO/Orphanet_281864
ClinVar:NODAL 1 http://www.orpha.net/ORDO/Orphanet_281884
ClinVar:DLL1 1 http://www.orpha.net/ORDO/Orphanet_281953
ClinVar:GRIN1 1 http://www.orpha.net/ORDO/Orphanet_282786
ClinVar:VANGL2 1 http://www.orpha.net/ORDO/Orphanet_283988
ClinVar:ITPA 1 http://www.orpha.net/ORDO/Orphanet_284116
ClinVar:B3GAT3 1 http://www.orpha.net/ORDO/Orphanet_284146
ClinVar:IL11RA 1 http://www.orpha.net/ORDO/Orphanet_284155
ClinVar:DYNC1H1 1 http://www.orpha.net/ORDO/Orphanet_284237
ClinVar:IGFBP7 1 http://www.orpha.net/ORDO/Orphanet_284258
ClinVar:SYT14 1 http://www.orpha.net/ORDO/Orphanet_284278
ClinVar:ANO10 1 http://www.orpha.net/ORDO/Orphanet_284296
ClinVar:EIF4G1 1 http://www.orpha.net/ORDO/Orphanet_285068
ClinVar:VPS35 1 http://www.orpha.net/ORDO/Orphanet_285081
ClinVar:PXDN 1 http://www.orpha.net/ORDO/Orphanet_285089
ClinVar:POLR3A 1 http://www.orpha.net/ORDO/Orphanet_285106
ClinVar:POLR3B 1 http://www.orpha.net/ORDO/Orphanet_285118
ClinVar:MOG 1 http://www.orpha.net/ORDO/Orphanet_285128
ClinVar:KAT6B 1 http://www.orpha.net/ORDO/Orphanet_285156
ClinVar:ST3GAL3 1 http://www.orpha.net/ORDO/Orphanet_285223
ClinVar:PSMC3IP 1 http://www.orpha.net/ORDO/Orphanet_285341
ClinVar:MIR17HG 1 http://www.orpha.net/ORDO/Orphanet_285348
ClinVar:ARHGAP24 1 http://www.orpha.net/ORDO/Orphanet_285362
ClinVar:FUZ 1 http://www.orpha.net/ORDO/Orphanet_285396
ClinVar:ZC3H14 1 http://www.orpha.net/ORDO/Orphanet_285406
ClinVar:WDR19 1 http://www.orpha.net/ORDO/Orphanet_285468
ClinVar:RPL21 1 http://www.orpha.net/ORDO/Orphanet_285488
ClinVar:UBAC2 1 http://www.orpha.net/ORDO/Orphanet_285499
ClinVar:TSPY1 1 http://www.orpha.net/ORDO/Orphanet_285739
ClinVar:GAS1 1 http://www.orpha.net/ORDO/Orphanet_285758
ClinVar:RHD 1 http://www.orpha.net/ORDO/Orphanet_286217
ClinVar:C9orf72 1 http://www.orpha.net/ORDO/Orphanet_286546
ClinVar:CACNA1H 1 http://www.orpha.net/ORDO/Orphanet_286549
ClinVar:AGK 1 http://www.orpha.net/ORDO/Orphanet_286552
ClinVar:HIRA 1 http://www.orpha.net/ORDO/Orphanet_286557
ClinVar:CFHR1 1 http://www.orpha.net/ORDO/Orphanet_286578
ClinVar:CFHR3 1 http://www.orpha.net/ORDO/Orphanet_286593
ClinVar:CFHR5 1 http://www.orpha.net/ORDO/Orphanet_286604
ClinVar:TXNRD2 1 http://www.orpha.net/ORDO/Orphanet_286619
ClinVar:TMEM237 1 http://www.orpha.net/ORDO/Orphanet_286631
ClinVar:KIF22 1 http://www.orpha.net/ORDO/Orphanet_286634
ClinVar:PLA2G5 1 http://www.orpha.net/ORDO/Orphanet_286639
ClinVar:BMP1 1 http://www.orpha.net/ORDO/Orphanet_287069
ClinVar:KHDC3L 1 http://www.orpha.net/ORDO/Orphanet_287584
ClinVar:RBP3 1 http://www.orpha.net/ORDO/Orphanet_288959
ClinVar:C8orf37 1 http://www.orpha.net/ORDO/Orphanet_288971
ClinVar:NOS1AP 1 http://www.orpha.net/ORDO/Orphanet_289008
ClinVar:GRIN2A 1 http://www.orpha.net/ORDO/Orphanet_289276
ClinVar:ADK 1 http://www.orpha.net/ORDO/Orphanet_289298
ClinVar:ALDH6A1 1 http://www.orpha.net/ORDO/Orphanet_289319
ClinVar:ROBO2 1 http://www.orpha.net/ORDO/Orphanet_289371
ClinVar:SOX17 1 http://www.orpha.net/ORDO/Orphanet_289375
ClinVar:SMARCAD1 1 http://www.orpha.net/ORDO/Orphanet_289472
ClinVar:LEPREL1 1 http://www.orpha.net/ORDO/Orphanet_289488
ClinVar:ACSF3 1 http://www.orpha.net/ORDO/Orphanet_289511
ClinVar:NDUFAF1 1 http://www.orpha.net/ORDO/Orphanet_289535
ClinVar:BAP1 1 http://www.orpha.net/ORDO/Orphanet_289543
ClinVar:C19orf12 1 http://www.orpha.net/ORDO/Orphanet_289569
ClinVar:NFU1 1 http://www.orpha.net/ORDO/Orphanet_289576
ClinVar:BOLA3 1 http://www.orpha.net/ORDO/Orphanet_289583
ClinVar:CSTA 1 http://www.orpha.net/ORDO/Orphanet_289589
ClinVar:NT5E 1 http://www.orpha.net/ORDO/Orphanet_289604
ClinVar:GNMT 1 http://www.orpha.net/ORDO/Orphanet_289897
ClinVar:ZNF711 1 http://www.orpha.net/ORDO/Orphanet_290194
ClinVar:HDAC8 1 http://www.orpha.net/ORDO/Orphanet_290272
ClinVar:MAX 1 http://www.orpha.net/ORDO/Orphanet_290420
ClinVar:KDM6A 1 http://www.orpha.net/ORDO/Orphanet_290568
ClinVar:SIGMAR1 1 http://www.orpha.net/ORDO/Orphanet_291509
ClinVar:PRRT2 1 http://www.orpha.net/ORDO/Orphanet_291703
ClinVar:DLX5 1 http://www.orpha.net/ORDO/Orphanet_291751
ClinVar:ABCB6 1 http://www.orpha.net/ORDO/Orphanet_291794
ClinVar:RIPK4 1 http://www.orpha.net/ORDO/Orphanet_291802
ClinVar:COL4A2 1 http://www.orpha.net/ORDO/Orphanet_291813
ClinVar:EZH2 1 http://www.orpha.net/ORDO/Orphanet_291819
ClinVar:SLCO2A1 1 http://www.orpha.net/ORDO/Orphanet_291830
ClinVar:C12orf62 1 http://www.orpha.net/ORDO/Orphanet_291843
ClinVar:GATA6 1 http://www.orpha.net/ORDO/Orphanet_291853
ClinVar:DNASE1L3 1 http://www.orpha.net/ORDO/Orphanet_291856
ClinVar:BTNL2 1 http://www.orpha.net/ORDO/Orphanet_291915
ClinVar:NDUFB9 1 http://www.orpha.net/ORDO/Orphanet_292027
ClinVar:BHLHA9 1 http://www.orpha.net/ORDO/Orphanet_292035
ClinVar:HOXB13 1 http://www.orpha.net/ORDO/Orphanet_292052
ClinVar:TSHZ1 1 http://www.orpha.net/ORDO/Orphanet_292088
ClinVar:MEGF10 1 http://www.orpha.net/ORDO/Orphanet_292098
ClinVar:CEP63 1 http://www.orpha.net/ORDO/Orphanet_292102
ClinVar:THRA 1 http://www.orpha.net/ORDO/Orphanet_292134
ClinVar:BICC1 1 http://www.orpha.net/ORDO/Orphanet_292175
ClinVar:AKR1C2 1 http://www.orpha.net/ORDO/Orphanet_292247
ClinVar:AKR1C4 1 http://www.orpha.net/ORDO/Orphanet_292259
ClinVar:SMARCA2 1 http://www.orpha.net/ORDO/Orphanet_292297
ClinVar:SRCAP 1 http://www.orpha.net/ORDO/Orphanet_292309
ClinVar:NDUFB3 1 http://www.orpha.net/ORDO/Orphanet_292321
ClinVar:CHRDL1 1 http://www.orpha.net/ORDO/Orphanet_292376
ClinVar:GPR179 1 http://www.orpha.net/ORDO/Orphanet_292381
ClinVar:RHBDF2 1 http://www.orpha.net/ORDO/Orphanet_292385
ClinVar:KIF11 1 http://www.orpha.net/ORDO/Orphanet_292401
ClinVar:EFTUD2 1 http://www.orpha.net/ORDO/Orphanet_292410
ClinVar:TICAM1 1 http://www.orpha.net/ORDO/Orphanet_292419
ClinVar:TRAF3 1 http://www.orpha.net/ORDO/Orphanet_292425
ClinVar:SLCO1B3 1 http://www.orpha.net/ORDO/Orphanet_292437
ClinVar:WIPF1 1 http://www.orpha.net/ORDO/Orphanet_292448
ClinVar:KISS1 1 http://www.orpha.net/ORDO/Orphanet_292693
ClinVar:RBBP8 1 http://www.orpha.net/ORDO/Orphanet_292698
ClinVar:TMEM138 1 http://www.orpha.net/ORDO/Orphanet_292990
ClinVar:CEP41 1 http://www.orpha.net/ORDO/Orphanet_292992
ClinVar:DIS3L2 1 http://www.orpha.net/ORDO/Orphanet_293019
ClinVar:SLC20A2 1 http://www.orpha.net/ORDO/Orphanet_293028
ClinVar:ASAM 1 http://www.orpha.net/ORDO/Orphanet_293034
ClinVar:DST 1 http://www.orpha.net/ORDO/Orphanet_293042
ClinVar:CACNG2 1 http://www.orpha.net/ORDO/Orphanet_293085
ClinVar:EPB41L1 1 http://www.orpha.net/ORDO/Orphanet_293091
ClinVar:ARID1B 1 http://www.orpha.net/ORDO/Orphanet_293095
ClinVar:ARID1A 1 http://www.orpha.net/ORDO/Orphanet_293103
ClinVar:TBXA2R 1 http://www.orpha.net/ORDO/Orphanet_293114
ClinVar:CDKN1A 1 http://www.orpha.net/ORDO/Orphanet_293293
ClinVar:CDKN2B 1 http://www.orpha.net/ORDO/Orphanet_293303
ClinVar:CDKN2C 1 http://www.orpha.net/ORDO/Orphanet_293311
ClinVar:SH2B1 1 http://www.orpha.net/ORDO/Orphanet_293315
ClinVar:LETM1 1 http://www.orpha.net/ORDO/Orphanet_293326
ClinVar:MAFB 1 http://www.orpha.net/ORDO/Orphanet_293867
ClinVar:SCN8A 1 http://www.orpha.net/ORDO/Orphanet_293928
ClinVar:TRPV3 1 http://www.orpha.net/ORDO/Orphanet_294456
ClinVar:MCM4 1 http://www.orpha.net/ORDO/Orphanet_294681
ClinVar:SEMA3A 1 http://www.orpha.net/ORDO/Orphanet_294689
ClinVar:CEP135 1 http://www.orpha.net/ORDO/Orphanet_295279
ClinVar:DNAJB6 1 http://www.orpha.net/ORDO/Orphanet_296684
ClinVar:DNAAF3 1 http://www.orpha.net/ORDO/Orphanet_296690
ClinVar:RBM8A 1 http://www.orpha.net/ORDO/Orphanet_296697
ClinVar:KCNJ8 1 http://www.orpha.net/ORDO/Orphanet_297206
ClinVar:RAD51D 1 http://www.orpha.net/ORDO/Orphanet_297209
ClinVar:OPLAH 1 http://www.orpha.net/ORDO/Orphanet_297456
ClinVar:ASCC1 1 http://www.orpha.net/ORDO/Orphanet_297627
ClinVar:MSR1 1 http://www.orpha.net/ORDO/Orphanet_297634
ClinVar:ATOH7 1 http://www.orpha.net/ORDO/Orphanet_298500
ClinVar:UCP2 1 http://www.orpha.net/ORDO/Orphanet_298784
ClinVar:CHRM3 1 http://www.orpha.net/ORDO/Orphanet_299148
ClinVar:IDH1 1 http://www.orpha.net/ORDO/Orphanet_299152
ClinVar:RFX6 1 http://www.orpha.net/ORDO/Orphanet_299156
ClinVar:CYP26B1 1 http://www.orpha.net/ORDO/Orphanet_299166
ClinVar:MIR184 1 http://www.orpha.net/ORDO/Orphanet_299169
ClinVar:TPK1 1 http://www.orpha.net/ORDO/Orphanet_299186
ClinVar:ADAM17 1 http://www.orpha.net/ORDO/Orphanet_299456
ClinVar:C5orf42 1 http://www.orpha.net/ORDO/Orphanet_299619
ClinVar:ROGDI 1 http://www.orpha.net/ORDO/Orphanet_299622
ClinVar:MTAP 1 http://www.orpha.net/ORDO/Orphanet_299625
ClinVar:PDE4D 1 http://www.orpha.net/ORDO/Orphanet_299630
ClinVar:PIGL 1 http://www.orpha.net/ORDO/Orphanet_299636
ClinVar:SKIV2L 1 http://www.orpha.net/ORDO/Orphanet_299641
ClinVar:XRCC2 1 http://www.orpha.net/ORDO/Orphanet_299649
ClinVar:SNX10 1 http://www.orpha.net/ORDO/Orphanet_299652
ClinVar:MTFMT 1 http://www.orpha.net/ORDO/Orphanet_299657
ClinVar:AKT3 1 http://www.orpha.net/ORDO/Orphanet_299660
ClinVar:PIK3R5 1 http://www.orpha.net/ORDO/Orphanet_300201
ClinVar:CACNA2D1 1 http://www.orpha.net/ORDO/Orphanet_300208
ClinVar:IFT140 1 http://www.orpha.net/ORDO/Orphanet_302892
ClinVar:NSUN2 1 http://www.orpha.net/ORDO/Orphanet_302903
ClinVar:GNAI3 1 http://www.orpha.net/ORDO/Orphanet_302920
ClinVar:PLCB4 1 http://www.orpha.net/ORDO/Orphanet_302923
ClinVar:SF3B4 1 http://www.orpha.net/ORDO/Orphanet_302925
ClinVar:ISPD 1 http://www.orpha.net/ORDO/Orphanet_302938
ClinVar:UVSSA 1 http://www.orpha.net/ORDO/Orphanet_302946
ClinVar:KCND3 1 http://www.orpha.net/ORDO/Orphanet_302951
ClinVar:LRSAM1 1 http://www.orpha.net/ORDO/Orphanet_303011
ClinVar:SMOC2 1 http://www.orpha.net/ORDO/Orphanet_303024
ClinVar:GRIP1 1 http://www.orpha.net/ORDO/Orphanet_303028
ClinVar:LRBA 1 http://www.orpha.net/ORDO/Orphanet_303168
ClinVar:PIEZO1 1 http://www.orpha.net/ORDO/Orphanet_303176
ClinVar:LZTFL1 1 http://www.orpha.net/ORDO/Orphanet_303711
ClinVar:CCDC103 1 http://www.orpha.net/ORDO/Orphanet_303726
ClinVar:KANSL1 1 http://www.orpha.net/ORDO/Orphanet_303739
ClinVar:EXOSC3 1 http://www.orpha.net/ORDO/Orphanet_303747
ClinVar:GREM1 1 http://www.orpha.net/ORDO/Orphanet_303758
ClinVar:KLHL3 1 http://www.orpha.net/ORDO/Orphanet_303801
ClinVar:CUL3 1 http://www.orpha.net/ORDO/Orphanet_303805
ClinVar:HARS 1 http://www.orpha.net/ORDO/Orphanet_303807
ClinVar:PLCG2 1 http://www.orpha.net/ORDO/Orphanet_303819
ClinVar:CRADD 1 http://www.orpha.net/ORDO/Orphanet_303823
ClinVar:GPD1 1 http://www.orpha.net/ORDO/Orphanet_303828
ClinVar:DDOST 1 http://www.orpha.net/ORDO/Orphanet_303832
ClinVar:TUBGCP6 1 http://www.orpha.net/ORDO/Orphanet_304005
ClinVar:NNT 1 http://www.orpha.net/ORDO/Orphanet_304075
ClinVar:FKBP14 1 http://www.orpha.net/ORDO/Orphanet_304165
ClinVar:PLOD3 1 http://www.orpha.net/ORDO/Orphanet_304172
ClinVar:GATA5 1 http://www.orpha.net/ORDO/Orphanet_304191
ClinVar:RAD21 1 http://www.orpha.net/ORDO/Orphanet_304234
ClinVar:TRDN 1 http://www.orpha.net/ORDO/Orphanet_304242
ClinVar:CD151 1 http://www.orpha.net/ORDO/Orphanet_304247
ClinVar:ADAMTS17 1 http://www.orpha.net/ORDO/Orphanet_304263
ClinVar:GATAD1 1 http://www.orpha.net/ORDO/Orphanet_304455
ClinVar:DIAPH3 1 http://www.orpha.net/ORDO/Orphanet_304486
ClinVar:PIGO 1 http://www.orpha.net/ORDO/Orphanet_304648
ClinVar:SLC52A2 1 http://www.orpha.net/ORDO/Orphanet_304678
ClinVar:CARD14 1 http://www.orpha.net/ORDO/Orphanet_304694
ClinVar:SOHLH1 1 http://www.orpha.net/ORDO/Orphanet_304764
ClinVar:NR1H4 1 http://www.orpha.net/ORDO/Orphanet_304804
ClinVar:SORL1 1 http://www.orpha.net/ORDO/Orphanet_306073
ClinVar:KIAA1377 1 http://www.orpha.net/ORDO/Orphanet_306100
ClinVar:CCDC11 1 http://www.orpha.net/ORDO/Orphanet_306106
ClinVar:MMP1 1 http://www.orpha.net/ORDO/Orphanet_306110
ClinVar:PIK3R2 1 http://www.orpha.net/ORDO/Orphanet_306122
ClinVar:TUBB4A 1 http://www.orpha.net/ORDO/Orphanet_306172
ClinVar:ELF4 1 http://www.orpha.net/ORDO/Orphanet_306189
ClinVar:PTPN2 1 http://www.orpha.net/ORDO/Orphanet_306416
ClinVar:PHF21A 1 http://www.orpha.net/ORDO/Orphanet_308053
ClinVar:IFITM5 1 http://www.orpha.net/ORDO/Orphanet_308058
ClinVar:FAN1 1 http://www.orpha.net/ORDO/Orphanet_308114
ClinVar:DCTN4 1 http://www.orpha.net/ORDO/Orphanet_308262
ClinVar:TCTN3 1 http://www.orpha.net/ORDO/Orphanet_310043
ClinVar:WNT3A 1 http://www.orpha.net/ORDO/Orphanet_310103
ClinVar:DKK1 1 http://www.orpha.net/ORDO/Orphanet_310112
ClinVar:SMAD6 1 http://www.orpha.net/ORDO/Orphanet_310221
ClinVar:C4orf26 1 http://www.orpha.net/ORDO/Orphanet_310402
ClinVar:RBPJ 1 http://www.orpha.net/ORDO/Orphanet_310406
ClinVar:PFN1 1 http://www.orpha.net/ORDO/Orphanet_310425
ClinVar:KCNJ18 1 http://www.orpha.net/ORDO/Orphanet_310433
ClinVar:CCDC78 1 http://www.orpha.net/ORDO/Orphanet_310451
ClinVar:POMGNT2 1 http://www.orpha.net/ORDO/Orphanet_310474
ClinVar:NMNAT1 1 http://www.orpha.net/ORDO/Orphanet_310793
ClinVar:SLC30A10 1 http://www.orpha.net/ORDO/Orphanet_311032
ClinVar:ITGA3 1 http://www.orpha.net/ORDO/Orphanet_311039
ClinVar:AP5Z1 1 http://www.orpha.net/ORDO/Orphanet_311047
ClinVar:CNNM2 1 http://www.orpha.net/ORDO/Orphanet_311068
ClinVar:HOXB1 1 http://www.orpha.net/ORDO/Orphanet_311103
ClinVar:ALX1 1 http://www.orpha.net/ORDO/Orphanet_311114
ClinVar:JAM3 1 http://www.orpha.net/ORDO/Orphanet_311118
ClinVar:FADD 1 http://www.orpha.net/ORDO/Orphanet_311122
ClinVar:SKI 1 http://www.orpha.net/ORDO/Orphanet_311140
ClinVar:KCNAB2 1 http://www.orpha.net/ORDO/Orphanet_311145
ClinVar:MTPAP 1 http://www.orpha.net/ORDO/Orphanet_311271
ClinVar:IER3IP1 1 http://www.orpha.net/ORDO/Orphanet_311350
ClinVar:ATP2B3 1 http://www.orpha.net/ORDO/Orphanet_311398
ClinVar:RAB33B 1 http://www.orpha.net/ORDO/Orphanet_311424
ClinVar:TACC3 1 http://www.orpha.net/ORDO/Orphanet_311452
ClinVar:TACC1 1 http://www.orpha.net/ORDO/Orphanet_311455
ClinVar:NCOA4 1 http://www.orpha.net/ORDO/Orphanet_311587
ClinVar:COL14A1 1 http://www.orpha.net/ORDO/Orphanet_311649
ClinVar:BCKDK 1 http://www.orpha.net/ORDO/Orphanet_312680
ClinVar:ZNF423 1 http://www.orpha.net/ORDO/Orphanet_313822
ClinVar:CEP164 1 http://www.orpha.net/ORDO/Orphanet_313834
ClinVar:MMP14 1 http://www.orpha.net/ORDO/Orphanet_314731
ClinVar:VAMP1 1 http://www.orpha.net/ORDO/Orphanet_314894
ClinVar:TSPEAR 1 http://www.orpha.net/ORDO/Orphanet_314938
ClinVar:FARS2 1 http://www.orpha.net/ORDO/Orphanet_315385
ClinVar:DACT1 1 http://www.orpha.net/ORDO/Orphanet_315395
ClinVar:ABCD4 1 http://www.orpha.net/ORDO/Orphanet_315413
ClinVar:HACE1 1 http://www.orpha.net/ORDO/Orphanet_315421
ClinVar:LIN28B 1 http://www.orpha.net/ORDO/Orphanet_315424
ClinVar:ISG15 1 http://www.orpha.net/ORDO/Orphanet_315470
ClinVar:IRF8 1 http://www.orpha.net/ORDO/Orphanet_315478
ClinVar:CASC5 1 http://www.orpha.net/ORDO/Orphanet_315787
ClinVar:HEATR2 1 http://www.orpha.net/ORDO/Orphanet_315800
ClinVar:POC1A 1 http://www.orpha.net/ORDO/Orphanet_316081
ClinVar:CIB2 1 http://www.orpha.net/ORDO/Orphanet_316333
ClinVar:HYDIN 1 http://www.orpha.net/ORDO/Orphanet_316341
ClinVar:CABP2 1 http://www.orpha.net/ORDO/Orphanet_316377
ClinVar:HCFC1 1 http://www.orpha.net/ORDO/Orphanet_317358
ClinVar:AAGAB 1 http://www.orpha.net/ORDO/Orphanet_317366
ClinVar:PEX11B 1 http://www.orpha.net/ORDO/Orphanet_317370
ClinVar:LRRC6 1 http://www.orpha.net/ORDO/Orphanet_317373
ClinVar:KCNT1 1 http://www.orpha.net/ORDO/Orphanet_317382
ClinVar:CALM1 1 http://www.orpha.net/ORDO/Orphanet_317387
ClinVar:LHX1 1 http://www.orpha.net/ORDO/Orphanet_317394
ClinVar:TNFSF15 1 http://www.orpha.net/ORDO/Orphanet_317398
ClinVar:POU2AF1 1 http://www.orpha.net/ORDO/Orphanet_317410
ClinVar:PTPN22 1 http://www.orpha.net/ORDO/Orphanet_317445
ClinVar:HOXC13 1 http://www.orpha.net/ORDO/Orphanet_317546
ClinVar:OTOG 1 http://www.orpha.net/ORDO/Orphanet_317554
ClinVar:PNPT1 1 http://www.orpha.net/ORDO/Orphanet_317560
ClinVar:OTOGL 1 http://www.orpha.net/ORDO/Orphanet_317567
ClinVar:RPL26 1 http://www.orpha.net/ORDO/Orphanet_317572
ClinVar:TMEM5 1 http://www.orpha.net/ORDO/Orphanet_317635
ClinVar:mars-02 1 http://www.orpha.net/ORDO/Orphanet_317667
ClinVar:CSF1R 1 http://www.orpha.net/ORDO/Orphanet_317674
ClinVar:CTC1 1 http://www.orpha.net/ORDO/Orphanet_317684
ClinVar:ACO2 1 http://www.orpha.net/ORDO/Orphanet_317699
ClinVar:SOX5 1 http://www.orpha.net/ORDO/Orphanet_317704
ClinVar:EARS2 1 http://www.orpha.net/ORDO/Orphanet_317719
ClinVar:GUCY2C 1 http://www.orpha.net/ORDO/Orphanet_317726
ClinVar:SRP72 1 http://www.orpha.net/ORDO/Orphanet_317739
ClinVar:DNAJB2 1 http://www.orpha.net/ORDO/Orphanet_317743
ClinVar:IRX5 1 http://www.orpha.net/ORDO/Orphanet_317747
ClinVar:MTO1 1 http://www.orpha.net/ORDO/Orphanet_317756
ClinVar:CAMTA1 1 http://www.orpha.net/ORDO/Orphanet_317761
ClinVar:B2M 1 http://www.orpha.net/ORDO/Orphanet_317771
ClinVar:TMEM165 1 http://www.orpha.net/ORDO/Orphanet_317781
ClinVar:STK4 1 http://www.orpha.net/ORDO/Orphanet_317798
ClinVar:CREB3L3 1 http://www.orpha.net/ORDO/Orphanet_317857
ClinVar:IKZF1 1 http://www.orpha.net/ORDO/Orphanet_318745
ClinVar:PRKDC 1 http://www.orpha.net/ORDO/Orphanet_318754
ClinVar:MEGF8 1 http://www.orpha.net/ORDO/Orphanet_318839
ClinVar:ATRIP 1 http://www.orpha.net/ORDO/Orphanet_318853
ClinVar:GATAD2B 1 http://www.orpha.net/ORDO/Orphanet_318860
ClinVar:TBK1 1 http://www.orpha.net/ORDO/Orphanet_318865
ClinVar:RTTN 1 http://www.orpha.net/ORDO/Orphanet_319033
ClinVar:KRT71 1 http://www.orpha.net/ORDO/Orphanet_319038
ClinVar:SMCHD1 1 http://www.orpha.net/ORDO/Orphanet_320176
ClinVar:CYP26C1 1 http://www.orpha.net/ORDO/Orphanet_320192
ClinVar:LARP7 1 http://www.orpha.net/ORDO/Orphanet_320199
ClinVar:EPS8L3 1 http://www.orpha.net/ORDO/Orphanet_320535
ClinVar:AP2S1 1 http://www.orpha.net/ORDO/Orphanet_320542
ClinVar:ARHGEF10 1 http://www.orpha.net/ORDO/Orphanet_320561
ClinVar:CCDC88C 1 http://www.orpha.net/ORDO/Orphanet_320663
ClinVar:ANO3 1 http://www.orpha.net/ORDO/Orphanet_320756
ClinVar:DHTKD1 1 http://www.orpha.net/ORDO/Orphanet_320765
ClinVar:SLC5A7 1 http://www.orpha.net/ORDO/Orphanet_320785
ClinVar:ACTG2 1 http://www.orpha.net/ORDO/Orphanet_320793
ClinVar:STAT4 1 http://www.orpha.net/ORDO/Orphanet_320815
ClinVar:DDIT3 1 http://www.orpha.net/ORDO/Orphanet_321333
ClinVar:MDM2 1 http://www.orpha.net/ORDO/Orphanet_321350
ClinVar:TMEM231 1 http://www.orpha.net/ORDO/Orphanet_321364
ClinVar:CYP2U1 1 http://www.orpha.net/ORDO/Orphanet_321573
ClinVar:DDHD2 1 http://www.orpha.net/ORDO/Orphanet_321575
ClinVar:TECPR2 1 http://www.orpha.net/ORDO/Orphanet_321589
ClinVar:CHD8 1 http://www.orpha.net/ORDO/Orphanet_321632
ClinVar:SLC52A1 1 http://www.orpha.net/ORDO/Orphanet_321640
ClinVar:PNPLA1 1 http://www.orpha.net/ORDO/Orphanet_322097
ClinVar:LRIT3 1 http://www.orpha.net/ORDO/Orphanet_322104
ClinVar:FCGR2B 1 http://www.orpha.net/ORDO/Orphanet_322120
ClinVar:MEOX1 1 http://www.orpha.net/ORDO/Orphanet_322841
ClinVar:SNRPE 1 http://www.orpha.net/ORDO/Orphanet_322852
ClinVar:CCDC114 1 http://www.orpha.net/ORDO/Orphanet_323398
ClinVar:ECEL1 1 http://www.orpha.net/ORDO/Orphanet_323407
ClinVar:INPPL1 1 http://www.orpha.net/ORDO/Orphanet_323427
ClinVar:EPG5 1 http://www.orpha.net/ORDO/Orphanet_323437
ClinVar:ZNF141 1 http://www.orpha.net/ORDO/Orphanet_323464
ClinVar:MPDZ 1 http://www.orpha.net/ORDO/Orphanet_323471
ClinVar:NOL3 1 http://www.orpha.net/ORDO/Orphanet_324240
ClinVar:VPS37A 1 http://www.orpha.net/ORDO/Orphanet_324251
ClinVar:COX7B 1 http://www.orpha.net/ORDO/Orphanet_325017
ClinVar:NIN 1 http://www.orpha.net/ORDO/Orphanet_325022
ClinVar:MRPL3 1 http://www.orpha.net/ORDO/Orphanet_325132
ClinVar:CRKL 1 http://www.orpha.net/ORDO/Orphanet_325261
ClinVar:TRAF6 1 http://www.orpha.net/ORDO/Orphanet_325281
ClinVar:EDA2R 1 http://www.orpha.net/ORDO/Orphanet_325286
ClinVar:SCN10A 1 http://www.orpha.net/ORDO/Orphanet_325976
ClinVar:COX20 1 http://www.orpha.net/ORDO/Orphanet_326052
ClinVar:PPM1K 1 http://www.orpha.net/ORDO/Orphanet_326069
ClinVar:STAT6 1 http://www.orpha.net/ORDO/Orphanet_326078
ClinVar:NAB2 1 http://www.orpha.net/ORDO/Orphanet_326081
ClinVar:BEAN1 1 http://www.orpha.net/ORDO/Orphanet_326090
ClinVar:PHC1 1 http://www.orpha.net/ORDO/Orphanet_326554
ClinVar:DIRC3 1 http://www.orpha.net/ORDO/Orphanet_326692
ClinVar:TFEB 1 http://www.orpha.net/ORDO/Orphanet_326706
ClinVar:CLTC 1 http://www.orpha.net/ORDO/Orphanet_326742
ClinVar:SFPQ 1 http://www.orpha.net/ORDO/Orphanet_326747
ClinVar:NONO 1 http://www.orpha.net/ORDO/Orphanet_326751
ClinVar:MIB1 1 http://www.orpha.net/ORDO/Orphanet_326843
ClinVar:KLLN 1 http://www.orpha.net/ORDO/Orphanet_326886
ClinVar:GRM1 1 http://www.orpha.net/ORDO/Orphanet_327283
ClinVar:WDR81 1 http://www.orpha.net/ORDO/Orphanet_327288
ClinVar:CA8 1 http://www.orpha.net/ORDO/Orphanet_327290
ClinVar:ATP8A2 1 http://www.orpha.net/ORDO/Orphanet_327294
ClinVar:PRDM8 1 http://www.orpha.net/ORDO/Orphanet_327299
ClinVar:RHOH 1 http://www.orpha.net/ORDO/Orphanet_327301
ClinVar:CACNA1D 1 http://www.orpha.net/ORDO/Orphanet_327310
ClinVar:CLIC2 1 http://www.orpha.net/ORDO/Orphanet_327331
ClinVar:ALG13 1 http://www.orpha.net/ORDO/Orphanet_327338
ClinVar:HINT1 1 http://www.orpha.net/ORDO/Orphanet_327364
ClinVar:RMND1 1 http://www.orpha.net/ORDO/Orphanet_327379
ClinVar:CHMP1A 1 http://www.orpha.net/ORDO/Orphanet_327388
ClinVar:ADCY5 1 http://www.orpha.net/ORDO/Orphanet_327400
ClinVar:TIA1 1 http://www.orpha.net/ORDO/Orphanet_327795
ClinVar:GBA2 1 http://www.orpha.net/ORDO/Orphanet_328666
ClinVar:LRIG2 1 http://www.orpha.net/ORDO/Orphanet_328676
ClinVar:ALDH1A3 1 http://www.orpha.net/ORDO/Orphanet_328691
ClinVar:SLC24A4 1 http://www.orpha.net/ORDO/Orphanet_328699
ClinVar:C19orf46 1 http://www.orpha.net/ORDO/Orphanet_328743
ClinVar:UQCRC2 1 http://www.orpha.net/ORDO/Orphanet_328770
ClinVar:MYPN 1 http://www.orpha.net/ORDO/Orphanet_328840
ClinVar:ITGA2 1 http://www.orpha.net/ORDO/Orphanet_328915
ClinVar:CD109 1 http://www.orpha.net/ORDO/Orphanet_328918
ClinVar:SCN11A 1 http://www.orpha.net/ORDO/Orphanet_328924
ClinVar:MT-TT 1 http://www.orpha.net/ORDO/Orphanet_328936
ClinVar:IGSF1 1 http://www.orpha.net/ORDO/Orphanet_330232
ClinVar:SAA1 1 http://www.orpha.net/ORDO/Orphanet_330340
ClinVar:B3GALNT2 1 http://www.orpha.net/ORDO/Orphanet_330631
ClinVar:ACTN1 1 http://www.orpha.net/ORDO/Orphanet_330666
ClinVar:RTEL1 1 http://www.orpha.net/ORDO/Orphanet_330673
ClinVar:P2RX2 1 http://www.orpha.net/ORDO/Orphanet_330683
ClinVar:TCF12 1 http://www.orpha.net/ORDO/Orphanet_330703
ClinVar:DRC1 1 http://www.orpha.net/ORDO/Orphanet_330717
ClinVar:MUC1 1 http://www.orpha.net/ORDO/Orphanet_330730
ClinVar:ALG14 1 http://www.orpha.net/ORDO/Orphanet_330740
ClinVar:NABP1 1 http://www.orpha.net/ORDO/Orphanet_330748
ClinVar:TMEM38B 1 http://www.orpha.net/ORDO/Orphanet_330772
ClinVar:DGKE 1 http://www.orpha.net/ORDO/Orphanet_330780
ClinVar:TRB@ 1 http://www.orpha.net/ORDO/Orphanet_330810
ClinVar:TRA@ 1 http://www.orpha.net/ORDO/Orphanet_330881
ClinVar:TRD@ 1 http://www.orpha.net/ORDO/Orphanet_330897
ClinVar:TRG@ 1 http://www.orpha.net/ORDO/Orphanet_330902
ClinVar:TCL1A 1 http://www.orpha.net/ORDO/Orphanet_330909
ClinVar:TLX1 1 http://www.orpha.net/ORDO/Orphanet_330912
ClinVar:TLX3 1 http://www.orpha.net/ORDO/Orphanet_330918
ClinVar:RBCK1 1 http://www.orpha.net/ORDO/Orphanet_331658
ClinVar:DPM2 1 http://www.orpha.net/ORDO/Orphanet_331676
ClinVar:HERC2 1 http://www.orpha.net/ORDO/Orphanet_331681
ClinVar:CAPN5 1 http://www.orpha.net/ORDO/Orphanet_331692
ClinVar:PACS1 1 http://www.orpha.net/ORDO/Orphanet_331697
ClinVar:ZNF335 1 http://www.orpha.net/ORDO/Orphanet_331701
ClinVar:DGAT1 1 http://www.orpha.net/ORDO/Orphanet_331710
ClinVar:UBE3B 1 http://www.orpha.net/ORDO/Orphanet_331716
ClinVar:WDR45 1 http://www.orpha.net/ORDO/Orphanet_331721
ClinVar:GNAL 1 http://www.orpha.net/ORDO/Orphanet_331747
ClinVar:CBFA2T3 1 http://www.orpha.net/ORDO/Orphanet_331749
ClinVar:DNM1L 1 http://www.orpha.net/ORDO/Orphanet_331806
ClinVar:GFER 1 http://www.orpha.net/ORDO/Orphanet_331852
ClinVar:C12orf57 1 http://www.orpha.net/ORDO/Orphanet_331880
ClinVar:HNRNPA2B1 1 http://www.orpha.net/ORDO/Orphanet_331927
ClinVar:HNRNPA1 1 http://www.orpha.net/ORDO/Orphanet_331931
ClinVar:WNT1 1 http://www.orpha.net/ORDO/Orphanet_331934
ClinVar:PGAP2 1 http://www.orpha.net/ORDO/Orphanet_331952
ClinVar:EOGT 1 http://www.orpha.net/ORDO/Orphanet_331958
ClinVar:CLPP 1 http://www.orpha.net/ORDO/Orphanet_331967
ClinVar:LARS2 1 http://www.orpha.net/ORDO/Orphanet_331972
ClinVar:KCTD1 1 http://www.orpha.net/ORDO/Orphanet_331979
ClinVar:TBX6 1 http://www.orpha.net/ORDO/Orphanet_332034
ClinVar:B3GNT1 1 http://www.orpha.net/ORDO/Orphanet_332043
ClinVar:PIEZO2 1 http://www.orpha.net/ORDO/Orphanet_332055
ClinVar:PRKCD 1 http://www.orpha.net/ORDO/Orphanet_332077
ClinVar:ERF 1 http://www.orpha.net/ORDO/Orphanet_332108
ClinVar:SMARCE1 1 http://www.orpha.net/ORDO/Orphanet_332111
ClinVar:MASP2 1 http://www.orpha.net/ORDO/Orphanet_332185
ClinVar:FCN3 1 http://www.orpha.net/ORDO/Orphanet_332191
ClinVar:TNFSF12 1 http://www.orpha.net/ORDO/Orphanet_332459
ClinVar:CNTN2 1 http://www.orpha.net/ORDO/Orphanet_332465
ClinVar:DNA2 1 http://www.orpha.net/ORDO/Orphanet_332912
ClinVar:LAMA4 1 http://www.orpha.net/ORDO/Orphanet_333071
ClinVar:CARD11 1 http://www.orpha.net/ORDO/Orphanet_333084
ClinVar:CRYGB 1 http://www.orpha.net/ORDO/Orphanet_333104
ClinVar:PIK3R1 1 http://www.orpha.net/ORDO/Orphanet_352217
ClinVar:CNOT3 1 http://www.orpha.net/ORDO/Orphanet_352239
ClinVar:MGMT 1 http://www.orpha.net/ORDO/Orphanet_352561
ClinVar:PHKG1 1 http://www.orpha.net/ORDO/Orphanet_352609
ClinVar:ANTXR1 1 http://www.orpha.net/ORDO/Orphanet_353211
ClinVar:FAM13A 1 http://www.orpha.net/ORDO/Orphanet_353231
ClinVar:OBFC1 1 http://www.orpha.net/ORDO/Orphanet_353238
ClinVar:ATP11A 1 http://www.orpha.net/ORDO/Orphanet_353241
ClinVar:DPP9 1 http://www.orpha.net/ORDO/Orphanet_353250
ClinVar:POT1 1 http://www.orpha.net/ORDO/Orphanet_353330
ClinVar:STAMBP 1 http://www.orpha.net/ORDO/Orphanet_353369
ClinVar:DEPDC5 1 http://www.orpha.net/ORDO/Orphanet_353372
ClinVar:TTC7A 1 http://www.orpha.net/ORDO/Orphanet_353460
ClinVar:GNAQ 1 http://www.orpha.net/ORDO/Orphanet_353497
ClinVar:KIAA1549 1 http://www.orpha.net/ORDO/Orphanet_353524
ClinVar:SLC1A1 1 http://www.orpha.net/ORDO/Orphanet_353548
ClinVar:ATP5A1 1 http://www.orpha.net/ORDO/Orphanet_353576
ClinVar:DNASE1 1 http://www.orpha.net/ORDO/Orphanet_353586
ClinVar:BANK1 1 http://www.orpha.net/ORDO/Orphanet_353589
ClinVar:SLITRK6 1 http://www.orpha.net/ORDO/Orphanet_353699
ClinVar:ZC4H2 1 http://www.orpha.net/ORDO/Orphanet_353728
ClinVar:IL17RD 1 http://www.orpha.net/ORDO/Orphanet_353734
ClinVar:FGF17 1 http://www.orpha.net/ORDO/Orphanet_353741
ClinVar:DUSP6 1 http://www.orpha.net/ORDO/Orphanet_353744
ClinVar:SPRY4 1 http://www.orpha.net/ORDO/Orphanet_353749
ClinVar:FLRT3 1 http://www.orpha.net/ORDO/Orphanet_353751
ClinVar:TLR4 1 http://www.orpha.net/ORDO/Orphanet_353890
ClinVar:CLCA4 1 http://www.orpha.net/ORDO/Orphanet_353921
ClinVar:C10orf11 1 http://www.orpha.net/ORDO/Orphanet_354069
ClinVar:STAC3 1 http://www.orpha.net/ORDO/Orphanet_354117
ClinVar:MGME1 1 http://www.orpha.net/ORDO/Orphanet_354122
ClinVar:ANKRD55 1 http://www.orpha.net/ORDO/Orphanet_355492
ClinVar:IL2RB 1 http://www.orpha.net/ORDO/Orphanet_355507
ClinVar:ARHGDIA 1 http://www.orpha.net/ORDO/Orphanet_356106
ClinVar:DNAJC6 1 http://www.orpha.net/ORDO/Orphanet_356123
ClinVar:MRPL44 1 http://www.orpha.net/ORDO/Orphanet_356136
ClinVar:ASXL3 1 http://www.orpha.net/ORDO/Orphanet_356141
ClinVar:NANOS1 1 http://www.orpha.net/ORDO/Orphanet_356158
ClinVar:SLC18A2 1 http://www.orpha.net/ORDO/Orphanet_356164
ClinVar:GNB4 1 http://www.orpha.net/ORDO/Orphanet_356169
ClinVar:PDK3 1 http://www.orpha.net/ORDO/Orphanet_356172
ClinVar:LAMB1 1 http://www.orpha.net/ORDO/Orphanet_356176
ClinVar:CTSF 1 http://www.orpha.net/ORDO/Orphanet_356180
ClinVar:POLE 1 http://www.orpha.net/ORDO/Orphanet_356190
ClinVar:RBP4 1 http://www.orpha.net/ORDO/Orphanet_356203
ClinVar:SLC25A12 1 http://www.orpha.net/ORDO/Orphanet_356212
ClinVar:SERAC1 1 http://www.orpha.net/ORDO/Orphanet_356228
ClinVar:IGHV4-34 1 http://www.orpha.net/ORDO/Orphanet_356638
ClinVar:CD27 1 http://www.orpha.net/ORDO/Orphanet_356847
ClinVar:B3GALT6 1 http://www.orpha.net/ORDO/Orphanet_356939
ClinVar:POFUT1 1 http://www.orpha.net/ORDO/Orphanet_357019
ClinVar:FAM111A 1 http://www.orpha.net/ORDO/Orphanet_357054
ClinVar:RNF216 1 http://www.orpha.net/ORDO/Orphanet_357214
ClinVar:RPSA 1 http://www.orpha.net/ORDO/Orphanet_357229
ClinVar:IL21R 1 http://www.orpha.net/ORDO/Orphanet_357435
ClinVar:CARS 1 http://www.orpha.net/ORDO/Orphanet_357449
ClinVar:TPM4 1 http://www.orpha.net/ORDO/Orphanet_357453
ClinVar:ZNF408 1 http://www.orpha.net/ORDO/Orphanet_357738
ClinVar:KIF23 1 http://www.orpha.net/ORDO/Orphanet_357756
ClinVar:BMS1 1 http://www.orpha.net/ORDO/Orphanet_357791
ClinVar:LINS1 1 http://www.orpha.net/ORDO/Orphanet_357802
ClinVar:STEAP3 1 http://www.orpha.net/ORDO/Orphanet_358321
ClinVar:ITGAM 1 http://www.orpha.net/ORDO/Orphanet_358399
ClinVar:SLC35A2 1 http://www.orpha.net/ORDO/Orphanet_358431
ClinVar:SLC25A1 1 http://www.orpha.net/ORDO/Orphanet_358443
ClinVar:ANK3 1 http://www.orpha.net/ORDO/Orphanet_358448
ClinVar:RAB28 1 http://www.orpha.net/ORDO/Orphanet_358558
ClinVar:KLHL40 1 http://www.orpha.net/ORDO/Orphanet_358562
ClinVar:B4GALNT1 1 http://www.orpha.net/ORDO/Orphanet_358571
ClinVar:PRDM16 1 http://www.orpha.net/ORDO/Orphanet_358598
ClinVar:RIT1 1 http://www.orpha.net/ORDO/Orphanet_358630
ClinVar:ADAM10 1 http://www.orpha.net/ORDO/Orphanet_358659
ClinVar:DSE 1 http://www.orpha.net/ORDO/Orphanet_358666
ClinVar:MLLT10 1 http://www.orpha.net/ORDO/Orphanet_358705
ClinVar:HNRNPH1 1 http://www.orpha.net/ORDO/Orphanet_358708
ClinVar:DDX3X 1 http://www.orpha.net/ORDO/Orphanet_358713
ClinVar:MYH7B 1 http://www.orpha.net/ORDO/Orphanet_360173
ClinVar:GNA11 1 http://www.orpha.net/ORDO/Orphanet_360224
ClinVar:MKRN3 1 http://www.orpha.net/ORDO/Orphanet_360230
ClinVar:MLX 1 http://www.orpha.net/ORDO/Orphanet_360280
ClinVar:C1R 1 http://www.orpha.net/ORDO/Orphanet_360362
ClinVar:ARMC4 1 http://www.orpha.net/ORDO/Orphanet_360481
ClinVar:DYX1C1 1 http://www.orpha.net/ORDO/Orphanet_360484
ClinVar:RSPH1 1 http://www.orpha.net/ORDO/Orphanet_360491
ClinVar:ZMYND10 1 http://www.orpha.net/ORDO/Orphanet_360500
ClinVar:BTRC 1 http://www.orpha.net/ORDO/Orphanet_360504
ClinVar:KCNK3 1 http://www.orpha.net/ORDO/Orphanet_360868
ClinVar:NR4A3 1 http://www.orpha.net/ORDO/Orphanet_361071
ClinVar:TAF15 1 http://www.orpha.net/ORDO/Orphanet_361085
ClinVar:GMPPB 1 http://www.orpha.net/ORDO/Orphanet_361109
ClinVar:CHD2 1 http://www.orpha.net/ORDO/Orphanet_361114
ClinVar:SCN2B 1 http://www.orpha.net/ORDO/Orphanet_361157
ClinVar:ANKS6 1 http://www.orpha.net/ORDO/Orphanet_361188
ClinVar:STOX1 1 http://www.orpha.net/ORDO/Orphanet_361372
ClinVar:HLA-DPB1 1 http://www.orpha.net/ORDO/Orphanet_362495
ClinVar:C15orf41 1 http://www.orpha.net/ORDO/Orphanet_362774
ClinVar:LRPAP1 1 http://www.orpha.net/ORDO/Orphanet_363060
ClinVar:AQP5 1 http://www.orpha.net/ORDO/Orphanet_363071
ClinVar:ARL2BP 1 http://www.orpha.net/ORDO/Orphanet_363162
ClinVar:SRGAP3 1 http://www.orpha.net/ORDO/Orphanet_363255
ClinVar:NTRK2 1 http://www.orpha.net/ORDO/Orphanet_363263
ClinVar:CYC1 1 http://www.orpha.net/ORDO/Orphanet_363276
ClinVar:PRKG1 1 http://www.orpha.net/ORDO/Orphanet_363279
ClinVar:WDR60 1 http://www.orpha.net/ORDO/Orphanet_363310
ClinVar:GNAO1 1 http://www.orpha.net/ORDO/Orphanet_363440
ClinVar:PPARGC1A 1 http://www.orpha.net/ORDO/Orphanet_363670
ClinVar:CHST8 1 http://www.orpha.net/ORDO/Orphanet_363954
ClinVar:ELMOD3 1 http://www.orpha.net/ORDO/Orphanet_364285
ClinVar:THOC6 1 http://www.orpha.net/ORDO/Orphanet_364390
ClinVar:CERS3 1 http://www.orpha.net/ORDO/Orphanet_364399
ClinVar:SBF1 1 http://www.orpha.net/ORDO/Orphanet_364562
ClinVar:GDF2 1 http://www.orpha.net/ORDO/Orphanet_364602
ClinVar:TMPRSS4 1 http://www.orpha.net/ORDO/Orphanet_364667
ClinVar:MT-TN 1 http://www.orpha.net/ORDO/Orphanet_364766
ClinVar:FOS 1 http://www.orpha.net/ORDO/Orphanet_364789
ClinVar:FGF16 1 http://www.orpha.net/ORDO/Orphanet_364799
ClinVar:KIAA0319L 1 http://www.orpha.net/ORDO/Orphanet_364825
ClinVar:PXK 1 http://www.orpha.net/ORDO/Orphanet_364829
ClinVar:JAZF1 1 http://www.orpha.net/ORDO/Orphanet_364833
ClinVar:DARS 1 http://www.orpha.net/ORDO/Orphanet_364846
ClinVar:CHSY1 1 http://www.orpha.net/ORDO/Orphanet_365084
ClinVar:GRID2 1 http://www.orpha.net/ORDO/Orphanet_365089
ClinVar:IBA57 1 http://www.orpha.net/ORDO/Orphanet_365096
ClinVar:BICD2 1 http://www.orpha.net/ORDO/Orphanet_365105
ClinVar:COG6 1 http://www.orpha.net/ORDO/Orphanet_365113
ClinVar:ADAT3 1 http://www.orpha.net/ORDO/Orphanet_365118
ClinVar:ADORA2A 1 http://www.orpha.net/ORDO/Orphanet_365126
ClinVar:CTCF 1 http://www.orpha.net/ORDO/Orphanet_365130
ClinVar:POLD1 1 http://www.orpha.net/ORDO/Orphanet_365133
ClinVar:SARS2 1 http://www.orpha.net/ORDO/Orphanet_365159
ClinVar:ATP1A1 1 http://www.orpha.net/ORDO/Orphanet_366774
ClinVar:PAX5 1 http://www.orpha.net/ORDO/Orphanet_366823
ClinVar:BUB1 1 http://www.orpha.net/ORDO/Orphanet_367084
ClinVar:BUB3 1 http://www.orpha.net/ORDO/Orphanet_367095
ClinVar:GPR35 1 http://www.orpha.net/ORDO/Orphanet_367100
ClinVar:MST1 1 http://www.orpha.net/ORDO/Orphanet_367104
ClinVar:C21orf59 1 http://www.orpha.net/ORDO/Orphanet_367619
ClinVar:CCDC65 1 http://www.orpha.net/ORDO/Orphanet_367625
ClinVar:SPAG1 1 http://www.orpha.net/ORDO/Orphanet_367631
ClinVar:AGBL1 1 http://www.orpha.net/ORDO/Orphanet_368101
ClinVar:RARB 1 http://www.orpha.net/ORDO/Orphanet_368114
ClinVar:NEK2 1 http://www.orpha.net/ORDO/Orphanet_368150
ClinVar:TNIP1 1 http://www.orpha.net/ORDO/Orphanet_369132
ClinVar:TNFAIP3 1 http://www.orpha.net/ORDO/Orphanet_369146
ClinVar:UBE2L3 1 http://www.orpha.net/ORDO/Orphanet_369255
ClinVar:TNFSF4 1 http://www.orpha.net/ORDO/Orphanet_369265
ClinVar:SPP1 1 http://www.orpha.net/ORDO/Orphanet_369311
ClinVar:IRAK1 1 http://www.orpha.net/ORDO/Orphanet_369336
ClinVar:ETS1 1 http://www.orpha.net/ORDO/Orphanet_369352
ClinVar:MCTP2 1 http://www.orpha.net/ORDO/Orphanet_369806
ClinVar:LZTR1 1 http://www.orpha.net/ORDO/Orphanet_369810
ClinVar:sept-14 1 http://www.orpha.net/ORDO/Orphanet_369815
ClinVar:ERBB4 1 http://www.orpha.net/ORDO/Orphanet_370064
ClinVar:C6orf70 1 http://www.orpha.net/ORDO/Orphanet_370330
ClinVar:TRAF3IP2 1 http://www.orpha.net/ORDO/Orphanet_370364
ClinVar:EEF2 1 http://www.orpha.net/ORDO/Orphanet_370413
ClinVar:ZBTB18 1 http://www.orpha.net/ORDO/Orphanet_370418
ClinVar:PICALM 1 http://www.orpha.net/ORDO/Orphanet_371077
ClinVar:SLC35A3 1 http://www.orpha.net/ORDO/Orphanet_371162
ClinVar:NFKB2 1 http://www.orpha.net/ORDO/Orphanet_371170
ClinVar:IFT172 1 http://www.orpha.net/ORDO/Orphanet_371219
ClinVar:CTSH 1 http://www.orpha.net/ORDO/Orphanet_371315
ClinVar:P2RY11 1 http://www.orpha.net/ORDO/Orphanet_371321
ClinVar:ZNF365 1 http://www.orpha.net/ORDO/Orphanet_371324
ClinVar:STX1A 1 http://www.orpha.net/ORDO/Orphanet_371333
ClinVar:PIGT 1 http://www.orpha.net/ORDO/Orphanet_371358
ClinVar:TBC1D7 1 http://www.orpha.net/ORDO/Orphanet_371601
ClinVar:SLC24A5 1 http://www.orpha.net/ORDO/Orphanet_371844
ClinVar:WDR34 1 http://www.orpha.net/ORDO/Orphanet_371931
ClinVar:SERPINB7 1 http://www.orpha.net/ORDO/Orphanet_371936
ClinVar:DCHS1 1 http://www.orpha.net/ORDO/Orphanet_371941
ClinVar:FAT4 1 http://www.orpha.net/ORDO/Orphanet_371950
ClinVar:TGFBR3 1 http://www.orpha.net/ORDO/Orphanet_375701
ClinVar:TRAPPC11 1 http://www.orpha.net/ORDO/Orphanet_376401
ClinVar:VPS45 1 http://www.orpha.net/ORDO/Orphanet_376411
ClinVar:SZT2 1 http://www.orpha.net/ORDO/Orphanet_376495
ClinVar:FBXL4 1 http://www.orpha.net/ORDO/Orphanet_376502
ClinVar:DDX59 1 http://www.orpha.net/ORDO/Orphanet_376535
ClinVar:IMPG1 1 http://www.orpha.net/ORDO/Orphanet_376545
ClinVar:AMPD2 1 http://www.orpha.net/ORDO/Orphanet_376557
ClinVar:BCAP31 1 http://www.orpha.net/ORDO/Orphanet_376561
ClinVar:ADAMTS18 1 http://www.orpha.net/ORDO/Orphanet_376567
ClinVar:ARNT2 1 http://www.orpha.net/ORDO/Orphanet_376571
ClinVar:KAT6A 1 http://www.orpha.net/ORDO/Orphanet_376575
ClinVar:PAX1 1 http://www.orpha.net/ORDO/Orphanet_376593
ClinVar:ADCK4 1 http://www.orpha.net/ORDO/Orphanet_376599
ClinVar:RPL15 1 http://www.orpha.net/ORDO/Orphanet_376603
ClinVar:NALCN 1 http://www.orpha.net/ORDO/Orphanet_376877
ClinVar:LARS 1 http://www.orpha.net/ORDO/Orphanet_376888
ClinVar:MARS 1 http://www.orpha.net/ORDO/Orphanet_376898
ClinVar:SMARCA5 1 http://www.orpha.net/ORDO/Orphanet_376910
ClinVar:VEGFC 1 http://www.orpha.net/ORDO/Orphanet_376917
ClinVar:XYLT1 1 http://www.orpha.net/ORDO/Orphanet_376942
ClinVar:TBC1D20 1 http://www.orpha.net/ORDO/Orphanet_376959
ClinVar:FAM111B 1 http://www.orpha.net/ORDO/Orphanet_376965
ClinVar:EDN1 1 http://www.orpha.net/ORDO/Orphanet_376969
ClinVar:KLHL41 1 http://www.orpha.net/ORDO/Orphanet_376977
ClinVar:CDK6 1 http://www.orpha.net/ORDO/Orphanet_377025
ClinVar:PTPLA 1 http://www.orpha.net/ORDO/Orphanet_377040
ClinVar:SSR4 1 http://www.orpha.net/ORDO/Orphanet_377052
ClinVar:PLXND1 1 http://www.orpha.net/ORDO/Orphanet_377069
ClinVar:PIP4K2A 1 http://www.orpha.net/ORDO/Orphanet_377556
ClinVar:CCR6 1 http://www.orpha.net/ORDO/Orphanet_377602
ClinVar:STT3A 1 http://www.orpha.net/ORDO/Orphanet_377662
ClinVar:STT3B 1 http://www.orpha.net/ORDO/Orphanet_377672
ClinVar:GMPPA 1 http://www.orpha.net/ORDO/Orphanet_377682
ClinVar:NDUFA13 1 http://www.orpha.net/ORDO/Orphanet_377743
ClinVar:CSPP1 1 http://www.orpha.net/ORDO/Orphanet_390741
ClinVar:EIF4A3 1 http://www.orpha.net/ORDO/Orphanet_390756
ClinVar:GRHL3 1 http://www.orpha.net/ORDO/Orphanet_390766
ClinVar:CTNNA3 1 http://www.orpha.net/ORDO/Orphanet_390869
ClinVar:GFI1B 1 http://www.orpha.net/ORDO/Orphanet_390922
ClinVar:PROZ 1 http://www.orpha.net/ORDO/Orphanet_391022
ClinVar:TNC 1 http://www.orpha.net/ORDO/Orphanet_391333
ClinVar:PCYT1A 1 http://www.orpha.net/ORDO/Orphanet_391468
ClinVar:EIF2AK4 1 http://www.orpha.net/ORDO/Orphanet_391627
ClinVar:PTDSS1 1 http://www.orpha.net/ORDO/Orphanet_391631
ClinVar:CALR 1 http://www.orpha.net/ORDO/Orphanet_391684
ClinVar:PDE6D 1 http://www.orpha.net/ORDO/Orphanet_391804
ClinVar:POGLUT1 1 http://www.orpha.net/ORDO/Orphanet_391813
ClinVar:ZBTB16 1 http://www.orpha.net/ORDO/Orphanet_391986
ClinVar:NUMA1 1 http://www.orpha.net/ORDO/Orphanet_391994
ClinVar:TTI2 1 http://www.orpha.net/ORDO/Orphanet_392264
ClinVar:TNK2 1 http://www.orpha.net/ORDO/Orphanet_392281
ClinVar:PLS3 1 http://www.orpha.net/ORDO/Orphanet_392290
ClinVar:SFXN4 1 http://www.orpha.net/ORDO/Orphanet_392296
ClinVar:ATL3 1 http://www.orpha.net/ORDO/Orphanet_392307
ClinVar:ARMC5 1 http://www.orpha.net/ORDO/Orphanet_392330
ClinVar:LIPT1 1 http://www.orpha.net/ORDO/Orphanet_394081
ClinVar:CRH 1 http://www.orpha.net/ORDO/Orphanet_394137
ClinVar:SH2B3 1 http://www.orpha.net/ORDO/Orphanet_394580
ClinVar:ASNS 1 http://www.orpha.net/ORDO/Orphanet_394593
ClinVar:TRPA1 1 http://www.orpha.net/ORDO/Orphanet_394596
ClinVar:TRMT10A 1 http://www.orpha.net/ORDO/Orphanet_394606
ClinVar:SYNJ1 1 http://www.orpha.net/ORDO/Orphanet_394615
ClinVar:MID2 1 http://www.orpha.net/ORDO/Orphanet_394877
ClinVar:NBAS 1 http://www.orpha.net/ORDO/Orphanet_394899
ClinVar:ADD3 1 http://www.orpha.net/ORDO/Orphanet_394916
ClinVar:C6orf125 1 http://www.orpha.net/ORDO/Orphanet_394920
ClinVar:PGAP3 1 http://www.orpha.net/ORDO/Orphanet_395056
ClinVar:ITGA8 1 http://www.orpha.net/ORDO/Orphanet_395065
ClinVar:YAP1 1 http://www.orpha.net/ORDO/Orphanet_395071
ClinVar:STUB1 1 http://www.orpha.net/ORDO/Orphanet_395106
ClinVar:ADRA2B 1 http://www.orpha.net/ORDO/Orphanet_395886
ClinVar:INHBA 1 http://www.orpha.net/ORDO/Orphanet_395930
ClinVar:RELA 1 http://www.orpha.net/ORDO/Orphanet_395954
ClinVar:C11orf95 1 http://www.orpha.net/ORDO/Orphanet_395960
ClinVar:CECR1 1 http://www.orpha.net/ORDO/Orphanet_396032
ClinVar:NT5C2 1 http://www.orpha.net/ORDO/Orphanet_398201
ClinVar:KIF1C 1 http://www.orpha.net/ORDO/Orphanet_398212
ClinVar:GYPC 1 http://www.orpha.net/ORDO/Orphanet_398416
ClinVar:PIGW 1 http://www.orpha.net/ORDO/Orphanet_400438
ClinVar:DNAJC13 1 http://www.orpha.net/ORDO/Orphanet_400443
ClinVar:TUB 1 http://www.orpha.net/ORDO/Orphanet_400463
ClinVar:LYRM4 1 http://www.orpha.net/ORDO/Orphanet_400605
ClinVar:NFS1 1 http://www.orpha.net/ORDO/Orphanet_400611
ClinVar:FBXO38 1 http://www.orpha.net/ORDO/Orphanet_400617
ClinVar:PIK3CD 1 http://www.orpha.net/ORDO/Orphanet_400623
ClinVar:KPTN 1 http://www.orpha.net/ORDO/Orphanet_400629
ClinVar:CEP19 1 http://www.orpha.net/ORDO/Orphanet_400633
ClinVar:SLC38A8 1 http://www.orpha.net/ORDO/Orphanet_400638
ClinVar:GSC 1 http://www.orpha.net/ORDO/Orphanet_400640
ClinVar:PRLR 1 http://www.orpha.net/ORDO/Orphanet_400642
ClinVar:STAG3 1 http://www.orpha.net/ORDO/Orphanet_400662
ClinVar:KIZ 1 http://www.orpha.net/ORDO/Orphanet_400687
ClinVar:ITGB6 1 http://www.orpha.net/ORDO/Orphanet_400703
ClinVar:NECAP1 1 http://www.orpha.net/ORDO/Orphanet_400742
ClinVar:PTCHD1 1 http://www.orpha.net/ORDO/Orphanet_401078
ClinVar:SLC7A14 1 http://www.orpha.net/ORDO/Orphanet_401123
ClinVar:FGF20 1 http://www.orpha.net/ORDO/Orphanet_401132
ClinVar:USP9X 1 http://www.orpha.net/ORDO/Orphanet_401212
ClinVar:CCND2 1 http://www.orpha.net/ORDO/Orphanet_401370
ClinVar:VPS53 1 http://www.orpha.net/ORDO/Orphanet_401564
ClinVar:TAF4B 1 http://www.orpha.net/ORDO/Orphanet_401597
ClinVar:ZMYND15 1 http://www.orpha.net/ORDO/Orphanet_401603
ClinVar:COASY 1 http://www.orpha.net/ORDO/Orphanet_401757
ClinVar:IKBKB 1 http://www.orpha.net/ORDO/Orphanet_401771
ClinVar:TAF2 1 http://www.orpha.net/ORDO/Orphanet_401879
ClinVar:TRAC 1 http://www.orpha.net/ORDO/Orphanet_401908
ClinVar:TRIM2 1 http://www.orpha.net/ORDO/Orphanet_401930
ClinVar:EPS8 1 http://www.orpha.net/ORDO/Orphanet_402371
ClinVar:IL21 1 http://www.orpha.net/ORDO/Orphanet_402379
ClinVar:RNPC3 1 http://www.orpha.net/ORDO/Orphanet_402549
ClinVar:NR2F2 1 http://www.orpha.net/ORDO/Orphanet_402562
ClinVar:IFIH1 1 http://www.orpha.net/ORDO/Orphanet_402570
ClinVar:AP1S3 1 http://www.orpha.net/ORDO/Orphanet_402648
ClinVar:SALL2 1 http://www.orpha.net/ORDO/Orphanet_402736
ClinVar:PTPN3 1 http://www.orpha.net/ORDO/Orphanet_402744
ClinVar:EMP2 1 http://www.orpha.net/ORDO/Orphanet_403061
ClinVar:PRPF4 1 http://www.orpha.net/ORDO/Orphanet_403096
ClinVar:ERCC6L2 1 http://www.orpha.net/ORDO/Orphanet_403281
ClinVar:MICU1 1 http://www.orpha.net/ORDO/Orphanet_403288
ClinVar:NR2F1 1 http://www.orpha.net/ORDO/Orphanet_403297
ClinVar:ARL6IP1 1 http://www.orpha.net/ORDO/Orphanet_403310
ClinVar:ERLIN1 1 http://www.orpha.net/ORDO/Orphanet_403322
ClinVar:USP8 1 http://www.orpha.net/ORDO/Orphanet_403334
ClinVar:WDR48 1 http://www.orpha.net/ORDO/Orphanet_403350
ClinVar:ENTPD1 1 http://www.orpha.net/ORDO/Orphanet_403364
ClinVar:ARSI 1 http://www.orpha.net/ORDO/Orphanet_403370
ClinVar:PGAP1 1 http://www.orpha.net/ORDO/Orphanet_403377
ClinVar:FLRT1 1 http://www.orpha.net/ORDO/Orphanet_403385
ClinVar:ZFR 1 http://www.orpha.net/ORDO/Orphanet_403392
ClinVar:REEP2 1 http://www.orpha.net/ORDO/Orphanet_403398
ClinVar:CCNO 1 http://www.orpha.net/ORDO/Orphanet_403591
ClinVar:CNTNAP1 1 http://www.orpha.net/ORDO/Orphanet_403662
ClinVar:ADCY6 1 http://www.orpha.net/ORDO/Orphanet_403669
ClinVar:COL12A1 1 http://www.orpha.net/ORDO/Orphanet_403672
ClinVar:PRICKLE2 1 http://www.orpha.net/ORDO/Orphanet_403958
ClinVar:LIAS 1 http://www.orpha.net/ORDO/Orphanet_404076
ClinVar:DNAJB1 1 http://www.orpha.net/ORDO/Orphanet_404128
ClinVar:PRKACA 1 http://www.orpha.net/ORDO/Orphanet_404135
ClinVar:GUCY1A3 1 http://www.orpha.net/ORDO/Orphanet_404138
ClinVar:CA5A 1 http://www.orpha.net/ORDO/Orphanet_404144
ClinVar:PIGQ 1 http://www.orpha.net/ORDO/Orphanet_404743
ClinVar:ADCY1 1 http://www.orpha.net/ORDO/Orphanet_404762
ClinVar:RABL4 1 http://www.orpha.net/ORDO/Orphanet_404768
ClinVar:MAGMAS 1 http://www.orpha.net/ORDO/Orphanet_404774
ClinVar:HHAT 1 http://www.orpha.net/ORDO/Orphanet_404789
ClinVar:ABCA5 1 http://www.orpha.net/ORDO/Orphanet_404800
ClinVar:CEP83 1 http://www.orpha.net/ORDO/Orphanet_404809
ClinVar:CPA1 1 http://www.orpha.net/ORDO/Orphanet_405057
ClinVar:METTL23 1 http://www.orpha.net/ORDO/Orphanet_405470
ClinVar:UNC45B 1 http://www.orpha.net/ORDO/Orphanet_405637
ClinVar:SOX11 1 http://www.orpha.net/ORDO/Orphanet_406000
ClinVar:ADNP 1 http://www.orpha.net/ORDO/Orphanet_406010
ClinVar:DNMT3A 1 http://www.orpha.net/ORDO/Orphanet_406016
ClinVar:CLIP1 1 http://www.orpha.net/ORDO/Orphanet_406382
ClinVar:SLC2A3 1 http://www.orpha.net/ORDO/Orphanet_406394
ClinVar:DSTYK 1 http://www.orpha.net/ORDO/Orphanet_406487
ClinVar:STX3 1 http://www.orpha.net/ORDO/Orphanet_406595
ClinVar:GPX4 1 http://www.orpha.net/ORDO/Orphanet_406611
ClinVar:CLIC5 1 http://www.orpha.net/ORDO/Orphanet_406620
ClinVar:MEIS2 1 http://www.orpha.net/ORDO/Orphanet_406645
ClinVar:UNC13A 1 http://www.orpha.net/ORDO/Orphanet_406692
ClinVar:RPS29 1 http://www.orpha.net/ORDO/Orphanet_406759
ClinVar:CHCHD10 1 http://www.orpha.net/ORDO/Orphanet_406765
ClinVar:QARS 1 http://www.orpha.net/ORDO/Orphanet_406879
ClinVar:SETD5 1 http://www.orpha.net/ORDO/Orphanet_406882
ClinVar:NGLY1 1 http://www.orpha.net/ORDO/Orphanet_406885
ClinVar:ZP1 1 http://www.orpha.net/ORDO/Orphanet_406889
ClinVar:TDP2 1 http://www.orpha.net/ORDO/Orphanet_406901
ClinVar:RUBCN 1 http://www.orpha.net/ORDO/Orphanet_406905
ClinVar:LAS1L 1 http://www.orpha.net/ORDO/Orphanet_406910
ClinVar:MED17 1 http://www.orpha.net/ORDO/Orphanet_407507
ClinVar:MYO1C 1 http://www.orpha.net/ORDO/Orphanet_407527
ClinVar:SLC26A8 1 http://www.orpha.net/ORDO/Orphanet_408636
ClinVar:sept-12 1 http://www.orpha.net/ORDO/Orphanet_408642
ClinVar:DNAH1 1 http://www.orpha.net/ORDO/Orphanet_408654
ClinVar:SLMAP 1 http://www.orpha.net/ORDO/Orphanet_408692
ClinVar:KLHL9 1 http://www.orpha.net/ORDO/Orphanet_409811
ClinVar:CRYBA2 1 http://www.orpha.net/ORDO/Orphanet_409839
ClinVar:NFIA 1 http://www.orpha.net/ORDO/Orphanet_409843
ClinVar:MLLT3 1 http://www.orpha.net/ORDO/Orphanet_409859
ClinVar:RPN1 1 http://www.orpha.net/ORDO/Orphanet_409866
ClinVar:RBM15 1 http://www.orpha.net/ORDO/Orphanet_409871
ClinVar:MKL1 1 http://www.orpha.net/ORDO/Orphanet_409876
ClinVar:ATP6V1B2 1 http://www.orpha.net/ORDO/Orphanet_410340
ClinVar:POC1B 1 http://www.orpha.net/ORDO/Orphanet_410502
ClinVar:HNRPDL 1 http://www.orpha.net/ORDO/Orphanet_410515
ClinVar:FAM65B 1 http://www.orpha.net/ORDO/Orphanet_410532
ClinVar:VAMP7 1 http://www.orpha.net/ORDO/Orphanet_410540
ClinVar:JMJD1C 1 http://www.orpha.net/ORDO/Orphanet_410615
ClinVar:CCDC22 1 http://www.orpha.net/ORDO/Orphanet_410622
ClinVar:TBL1XR1 1 http://www.orpha.net/ORDO/Orphanet_410642
ClinVar:SPEG 1 http://www.orpha.net/ORDO/Orphanet_410675
ClinVar:ZBTB20 1 http://www.orpha.net/ORDO/Orphanet_410685
ClinVar:LAMA1 1 http://www.orpha.net/ORDO/Orphanet_410692
ClinVar:ZSWIM6 1 http://www.orpha.net/ORDO/Orphanet_410706
ClinVar:FBXO31 1 http://www.orpha.net/ORDO/Orphanet_410726
ClinVar:PTPRF 1 http://www.orpha.net/ORDO/Orphanet_410737
ClinVar:FEZF1 1 http://www.orpha.net/ORDO/Orphanet_410849
ClinVar:ANLN 1 http://www.orpha.net/ORDO/Orphanet_410859
ClinVar:CCDC151 1 http://www.orpha.net/ORDO/Orphanet_411117
ClinVar:RASA2 1 http://www.orpha.net/ORDO/Orphanet_411370
ClinVar:SNRPB 1 http://www.orpha.net/ORDO/Orphanet_411411
ClinVar:FGF5 1 http://www.orpha.net/ORDO/Orphanet_411802
ClinVar:SF3B1 1 http://www.orpha.net/ORDO/Orphanet_412551
ClinVar:SAT1 1 http://www.orpha.net/ORDO/Orphanet_412573
ClinVar:AMBN 1 http://www.orpha.net/ORDO/Orphanet_412643
ClinVar:TMEM240 1 http://www.orpha.net/ORDO/Orphanet_412653
ClinVar:SETD2 1 http://www.orpha.net/ORDO/Orphanet_412839
ClinVar:RPS28 1 http://www.orpha.net/ORDO/Orphanet_412866
ClinVar:CASQ1 1 http://www.orpha.net/ORDO/Orphanet_413011
ClinVar:SLC17A9 1 http://www.orpha.net/ORDO/Orphanet_413026
ClinVar:TRNT1 1 http://www.orpha.net/ORDO/Orphanet_413615
ClinVar:HLA-C 1 http://www.orpha.net/ORDO/Orphanet_413847
ClinVar:SYCE1 1 http://www.orpha.net/ORDO/Orphanet_413863
ClinVar:HCN1 1 http://www.orpha.net/ORDO/Orphanet_413970
ClinVar:SLC13A5 1 http://www.orpha.net/ORDO/Orphanet_413976
ClinVar:KCNB1 1 http://www.orpha.net/ORDO/Orphanet_413979
ClinVar:LMOD3 1 http://www.orpha.net/ORDO/Orphanet_414069
ClinVar:NDST1 1 http://www.orpha.net/ORDO/Orphanet_414701
ClinVar:RPS20 1 http://www.orpha.net/ORDO/Orphanet_414935
ClinVar:DOCK7 1 http://www.orpha.net/ORDO/Orphanet_415155
ClinVar:EXOSC8 1 http://www.orpha.net/ORDO/Orphanet_415196
ClinVar:PURA 1 http://www.orpha.net/ORDO/Orphanet_418205
ClinVar:SNX14 1 http://www.orpha.net/ORDO/Orphanet_418210
ClinVar:CKAP2L 1 http://www.orpha.net/ORDO/Orphanet_418214
ClinVar:CENPE 1 http://www.orpha.net/ORDO/Orphanet_419081
ClinVar:TXNL4A 1 http://www.orpha.net/ORDO/Orphanet_419132
ClinVar:STX1B 1 http://www.orpha.net/ORDO/Orphanet_419164
ClinVar:TGDS 1 http://www.orpha.net/ORDO/Orphanet_419174
ClinVar:SASS6 1 http://www.orpha.net/ORDO/Orphanet_419331
ClinVar:IGSF3 1 http://www.orpha.net/ORDO/Orphanet_419348
ClinVar:ACD 1 http://www.orpha.net/ORDO/Orphanet_419358
ClinVar:MAP3K6 1 http://www.orpha.net/ORDO/Orphanet_419381
ClinVar:WDR73 1 http://www.orpha.net/ORDO/Orphanet_420151
ClinVar:FMN2 1 http://www.orpha.net/ORDO/Orphanet_420169
ClinVar:GPR101 1 http://www.orpha.net/ORDO/Orphanet_420409
ClinVar:MFAP5 1 http://www.orpha.net/ORDO/Orphanet_420468
ClinVar:LONP1 1 http://www.orpha.net/ORDO/Orphanet_420818
ClinVar:EIF1AX 1 http://www.orpha.net/ORDO/Orphanet_422208
ClinVar:CRB2 1 http://www.orpha.net/ORDO/Orphanet_422255
ClinVar:CALM2 1 http://www.orpha.net/ORDO/Orphanet_422270
ClinVar:PLK4 1 http://www.orpha.net/ORDO/Orphanet_422336
ClinVar:OSBPL2 1 http://www.orpha.net/ORDO/Orphanet_422342
ClinVar:C1orf31 1 http://www.orpha.net/ORDO/Orphanet_422397
ClinVar:COL25A1 1 http://www.orpha.net/ORDO/Orphanet_422551
ClinVar:DDX58 1 http://www.orpha.net/ORDO/Orphanet_422901
ClinVar:CEP120 1 http://www.orpha.net/ORDO/Orphanet_422916
ClinVar:ASPH 1 http://www.orpha.net/ORDO/Orphanet_422966
ClinVar:DEAF1 1 http://www.orpha.net/ORDO/Orphanet_422989
ClinVar:CLP1 1 http://www.orpha.net/ORDO/Orphanet_422996
ClinVar:PRKAR1B 1 http://www.orpha.net/ORDO/Orphanet_423011
ClinVar:AHDC1 1 http://www.orpha.net/ORDO/Orphanet_423013
ClinVar:EXPH5 1 http://www.orpha.net/ORDO/Orphanet_423086
ClinVar:SLC6A17 1 http://www.orpha.net/ORDO/Orphanet_423450
ClinVar:P4HB 1 http://www.orpha.net/ORDO/Orphanet_426000
ClinVar:SEC24D 1 http://www.orpha.net/ORDO/Orphanet_426017
ClinVar:DVL1 1 http://www.orpha.net/ORDO/Orphanet_426034
ClinVar:SNAP25 1 http://www.orpha.net/ORDO/Orphanet_426049
ClinVar:SIK1 1 http://www.orpha.net/ORDO/Orphanet_426073
ClinVar:HPCA 1 http://www.orpha.net/ORDO/Orphanet_426083
ClinVar:TUBGCP4 1 http://www.orpha.net/ORDO/Orphanet_426086
ClinVar:GPR161 1 http://www.orpha.net/ORDO/Orphanet_426145
ClinVar:ECHS1 1 http://www.orpha.net/ORDO/Orphanet_426564
ClinVar:NOS1 1 http://www.orpha.net/ORDO/Orphanet_426568
ClinVar:PARN 1 http://www.orpha.net/ORDO/Orphanet_426776
ClinVar:NDUFB11 1 http://www.orpha.net/ORDO/Orphanet_426792
ClinVar:DNM1 1 http://www.orpha.net/ORDO/Orphanet_426934
ClinVar:GCNT2 1 http://www.orpha.net/ORDO/Orphanet_426937
ClinVar:RNF113A 1 http://www.orpha.net/ORDO/Orphanet_430986
ClinVar:SUZ12 1 http://www.orpha.net/ORDO/Orphanet_431087
ClinVar:FAM22A 1 http://www.orpha.net/ORDO/Orphanet_431093
ClinVar:FAM22B 1 http://www.orpha.net/ORDO/Orphanet_431097
ClinVar:WWTR1 1 http://www.orpha.net/ORDO/Orphanet_431102
ClinVar:SEMA3C 1 http://www.orpha.net/ORDO/Orphanet_431136
ClinVar:SEMA3D 1 http://www.orpha.net/ORDO/Orphanet_431145
ClinVar:MTOR 1 http://www.orpha.net/ORDO/Orphanet_431220
ClinVar:ISL1 1 http://www.orpha.net/ORDO/Orphanet_431237
ClinVar:KCNH1 1 http://www.orpha.net/ORDO/Orphanet_431495
ClinVar:APC2 1 http://www.orpha.net/ORDO/Orphanet_431562
ClinVar:RASGRP2 1 http://www.orpha.net/ORDO/Orphanet_431588
ClinVar:CTPS1 1 http://www.orpha.net/ORDO/Orphanet_431591
ClinVar:JAGN1 1 http://www.orpha.net/ORDO/Orphanet_431604
ClinVar:CXCR2 1 http://www.orpha.net/ORDO/Orphanet_431609
ClinVar:LASS1 1 http://www.orpha.net/ORDO/Orphanet_431615
ClinVar:KANK2 1 http://www.orpha.net/ORDO/Orphanet_431623
ClinVar:XPR1 1 http://www.orpha.net/ORDO/Orphanet_431657
ClinVar:TEX11 1 http://www.orpha.net/ORDO/Orphanet_431878
ClinVar:SLC6A1 1 http://www.orpha.net/ORDO/Orphanet_431886
ClinVar:PCLO 1 http://www.orpha.net/ORDO/Orphanet_431917
ClinVar:IL17RC 1 http://www.orpha.net/ORDO/Orphanet_431928
ClinVar:PDE3A 1 http://www.orpha.net/ORDO/Orphanet_431999
ClinVar:ELOVL5 1 http://www.orpha.net/ORDO/Orphanet_432003
ClinVar:RNF168 1 http://www.orpha.net/ORDO/Orphanet_432037
ClinVar:VARS2 1 http://www.orpha.net/ORDO/Orphanet_432047
ClinVar:TARS2 1 http://www.orpha.net/ORDO/Orphanet_432060
ClinVar:RNF31 1 http://www.orpha.net/ORDO/Orphanet_432144
ClinVar:UBE2T 1 http://www.orpha.net/ORDO/Orphanet_432157
ClinVar:TNFRSF4 1 http://www.orpha.net/ORDO/Orphanet_434205
ClinVar:C2CD3 1 http://www.orpha.net/ORDO/Orphanet_434225
ClinVar:EML1 1 http://www.orpha.net/ORDO/Orphanet_434227
ClinVar:STAT2 1 http://www.orpha.net/ORDO/Orphanet_434238
ClinVar:CORIN 1 http://www.orpha.net/ORDO/Orphanet_434292
ClinVar:DCDC2 1 http://www.orpha.net/ORDO/Orphanet_434377
ClinVar:EDC3 1 http://www.orpha.net/ORDO/Orphanet_434391
ClinVar:SOS2 1 http://www.orpha.net/ORDO/Orphanet_434401
ClinVar:FZD2 1 http://www.orpha.net/ORDO/Orphanet_434424
ClinVar:PMPCA 1 http://www.orpha.net/ORDO/Orphanet_434440
ClinVar:PI4KA 1 http://www.orpha.net/ORDO/Orphanet_434516
ClinVar:DRAM2 1 http://www.orpha.net/ORDO/Orphanet_434553
ClinVar:COA3 1 http://www.orpha.net/ORDO/Orphanet_434612
ClinVar:XYLT2 1 http://www.orpha.net/ORDO/Orphanet_434703
ClinVar:SPARC 1 http://www.orpha.net/ORDO/Orphanet_434708
ClinVar:PBRM1 1 http://www.orpha.net/ORDO/Orphanet_434716
ClinVar:MFSD2A 1 http://www.orpha.net/ORDO/Orphanet_435518
ClinVar:RSPH3 1 http://www.orpha.net/ORDO/Orphanet_435581
ClinVar:RNASEH1 1 http://www.orpha.net/ORDO/Orphanet_435761
ClinVar:KIAA0586 1 http://www.orpha.net/ORDO/Orphanet_435787
ClinVar:CDCA7 1 http://www.orpha.net/ORDO/Orphanet_436811
ClinVar:HELLS 1 http://www.orpha.net/ORDO/Orphanet_436818
ClinVar:OGDH 1 http://www.orpha.net/ORDO/Orphanet_436832
ClinVar:ATF6 1 http://www.orpha.net/ORDO/Orphanet_436836
ClinVar:CTNNA1 1 http://www.orpha.net/ORDO/Orphanet_436845
ClinVar:UFSP2 1 http://www.orpha.net/ORDO/Orphanet_436858
ClinVar:LSS 1 http://www.orpha.net/ORDO/Orphanet_436871
ClinVar:SLC25A46 1 http://www.orpha.net/ORDO/Orphanet_436878
ClinVar:APPL1 1 http://www.orpha.net/ORDO/Orphanet_436880
ClinVar:CALM3 1 http://www.orpha.net/ORDO/Orphanet_437180
ClinVar:HABP2 1 http://www.orpha.net/ORDO/Orphanet_437465
ClinVar:RAD54L 1 http://www.orpha.net/ORDO/Orphanet_437664
ClinVar:PPM1D 1 http://www.orpha.net/ORDO/Orphanet_437674
ClinVar:SLC22A18 1 http://www.orpha.net/ORDO/Orphanet_437689
ClinVar:RIPPLY2 1 http://www.orpha.net/ORDO/Orphanet_437793
ClinVar:NFKB1 1 http://www.orpha.net/ORDO/Orphanet_438054
ClinVar:TMEM173 1 http://www.orpha.net/ORDO/Orphanet_438066
ClinVar:REV3L 1 http://www.orpha.net/ORDO/Orphanet_438089
ClinVar:DLL4 1 http://www.orpha.net/ORDO/Orphanet_438271
ClinVar:PICK1 1 http://www.orpha.net/ORDO/Orphanet_438982
ClinVar:MAB21L2 1 http://www.orpha.net/ORDO/Orphanet_440122
ClinVar:WDR16 1 http://www.orpha.net/ORDO/Orphanet_440240
ClinVar:TP73 1 http://www.orpha.net/ORDO/Orphanet_440324
ClinVar:PALLD 1 http://www.orpha.net/ORDO/Orphanet_441210
ClinVar:CNGA2 1 http://www.orpha.net/ORDO/Orphanet_441279
ClinVar:COL27A1 1 http://www.orpha.net/ORDO/Orphanet_441425
ClinVar:TTLL5 1 http://www.orpha.net/ORDO/Orphanet_442634
ClinVar:PCNA 1 http://www.orpha.net/ORDO/Orphanet_442672
ClinVar:GAS8 1 http://www.orpha.net/ORDO/Orphanet_442934
ClinVar:KCNN4 1 http://www.orpha.net/ORDO/Orphanet_442943
ClinVar:NUP107 1 http://www.orpha.net/ORDO/Orphanet_442980
ClinVar:FCGR3A 1 http://www.orpha.net/ORDO/Orphanet_443014
ClinVar:RARS 1 http://www.orpha.net/ORDO/Orphanet_443021
ClinVar:CIDEC 1 http://www.orpha.net/ORDO/Orphanet_444087
ClinVar:LIPE 1 http://www.orpha.net/ORDO/Orphanet_444104
ClinVar:KCNC1 1 http://www.orpha.net/ORDO/Orphanet_444112
ClinVar:KCNJ6 1 http://www.orpha.net/ORDO/Orphanet_444179
ClinVar:TRAF3IP1 1 http://www.orpha.net/ORDO/Orphanet_444522
ClinVar:PMVK 1 http://www.orpha.net/ORDO/Orphanet_444563
ClinVar:MVD 1 http://www.orpha.net/ORDO/Orphanet_444568
ClinVar:FDPS 1 http://www.orpha.net/ORDO/Orphanet_444574
ClinVar:C7orf27 1 http://www.orpha.net/ORDO/Orphanet_444663
ClinVar:COX6A1 1 http://www.orpha.net/ORDO/Orphanet_444671
ClinVar:APOPT1 1 http://www.orpha.net/ORDO/Orphanet_444676
ClinVar:SYT2 1 http://www.orpha.net/ORDO/Orphanet_444681
ClinVar:RDH11 1 http://www.orpha.net/ORDO/Orphanet_444684
ClinVar:TNNI3K 1 http://www.orpha.net/ORDO/Orphanet_444714
ClinVar:NSMCE2 1 http://www.orpha.net/ORDO/Orphanet_444717
ClinVar:IARS2 1 http://www.orpha.net/ORDO/Orphanet_444729
ClinVar:NLRC4 1 http://www.orpha.net/ORDO/Orphanet_444736
ClinVar:ZMYND11 1 http://www.orpha.net/ORDO/Orphanet_444761
ClinVar:KIF14 1 http://www.orpha.net/ORDO/Orphanet_444781
ClinVar:SGOL1 1 http://www.orpha.net/ORDO/Orphanet_444785
ClinVar:SPRTN 1 http://www.orpha.net/ORDO/Orphanet_444788
ClinVar:COG2 1 http://www.orpha.net/ORDO/Orphanet_444810
ClinVar:RPIA 1 http://www.orpha.net/ORDO/Orphanet_444921
ClinVar:SHPK 1 http://www.orpha.net/ORDO/Orphanet_444924
ClinVar:SLC12A5 1 http://www.orpha.net/ORDO/Orphanet_444948
ClinVar:ANKLE2 1 http://www.orpha.net/ORDO/Orphanet_445103
ClinVar:HOMER2 1 http://www.orpha.net/ORDO/Orphanet_445129
ClinVar:MMP21 1 http://www.orpha.net/ORDO/Orphanet_445555
ClinVar:TRIM44 1 http://www.orpha.net/ORDO/Orphanet_445573
ClinVar:MN1 1 http://www.orpha.net/ORDO/Orphanet_445669
ClinVar:KCNA2 1 http://www.orpha.net/ORDO/Orphanet_446524
ClinVar:EEF1A2 1 http://www.orpha.net/ORDO/Orphanet_446538
ClinVar:GCGR 1 http://www.orpha.net/ORDO/Orphanet_446713
ClinVar:PGM3 1 http://www.orpha.net/ORDO/Orphanet_446811
ClinVar:PRKACG 1 http://www.orpha.net/ORDO/Orphanet_446842
ClinVar:FAR1 1 http://www.orpha.net/ORDO/Orphanet_446846
ClinVar:ATP2B2 1 http://www.orpha.net/ORDO/Orphanet_447183
ClinVar:COL13A1 1 http://www.orpha.net/ORDO/Orphanet_447926
ClinVar:ANKRD1 1 http://www.orpha.net/ORDO/Orphanet_448317
ClinVar:MAPRE2 1 http://www.orpha.net/ORDO/Orphanet_448342
ClinVar:TUBB 1 http://www.orpha.net/ORDO/Orphanet_448353
ClinVar:HNMT 1 http://www.orpha.net/ORDO/Orphanet_448453
ClinVar:SASH1 1 http://www.orpha.net/ORDO/Orphanet_448465
ClinVar:LRP1 1 http://www.orpha.net/ORDO/Orphanet_448482
ClinVar:TNFRSF1B 1 http://www.orpha.net/ORDO/Orphanet_448527
ClinVar:CD28 1 http://www.orpha.net/ORDO/Orphanet_448537
ClinVar:EDNRA 1 http://www.orpha.net/ORDO/Orphanet_448610
ClinVar:GTPBP3 1 http://www.orpha.net/ORDO/Orphanet_448614
ClinVar:KATNB1 1 http://www.orpha.net/ORDO/Orphanet_448624
ClinVar:MCM9 1 http://www.orpha.net/ORDO/Orphanet_448630
ClinVar:CENPF 1 http://www.orpha.net/ORDO/Orphanet_448640
ClinVar:BRF1 1 http://www.orpha.net/ORDO/Orphanet_448647
ClinVar:AFF4 1 http://www.orpha.net/ORDO/Orphanet_448667
ClinVar:COPA 1 http://www.orpha.net/ORDO/Orphanet_448689
ClinVar:CPT1C 1 http://www.orpha.net/ORDO/Orphanet_448705
ClinVar:CAST 1 http://www.orpha.net/ORDO/Orphanet_448710
ClinVar:TPP2 1 http://www.orpha.net/ORDO/Orphanet_448714
ClinVar:EZR 1 http://www.orpha.net/ORDO/Orphanet_448725
ClinVar:SYCP3 1 http://www.orpha.net/ORDO/Orphanet_448829
ClinVar:KRT25 1 http://www.orpha.net/ORDO/Orphanet_448847
ClinVar:TRAIP 1 http://www.orpha.net/ORDO/Orphanet_448855
ClinVar:CEP104 1 http://www.orpha.net/ORDO/Orphanet_448865
ClinVar:KIAA0556 1 http://www.orpha.net/ORDO/Orphanet_448873
ClinVar:CCR1 1 http://www.orpha.net/ORDO/Orphanet_449063
ClinVar:KLRC4 1 http://www.orpha.net/ORDO/Orphanet_449077
ClinVar:ERAP1 1 http://www.orpha.net/ORDO/Orphanet_449094
ClinVar:CLPB 1 http://www.orpha.net/ORDO/Orphanet_449270
ClinVar:REST 1 http://www.orpha.net/ORDO/Orphanet_449638
ClinVar:SLC6A2 1 http://www.orpha.net/ORDO/Orphanet_449814
ClinVar:NUT 1 http://www.orpha.net/ORDO/Orphanet_449858
ClinVar:BRD4 1 http://www.orpha.net/ORDO/Orphanet_449868
ClinVar:CNKSR2 1 http://www.orpha.net/ORDO/Orphanet_449961
ClinVar:DNAJC3 1 http://www.orpha.net/ORDO/Orphanet_449981
ClinVar:KLC2 1 http://www.orpha.net/ORDO/Orphanet_450291
ClinVar:TERF2IP 1 http://www.orpha.net/ORDO/Orphanet_451445
ClinVar:GMNN 1 http://www.orpha.net/ORDO/Orphanet_451459
ClinVar:RPS15 1 http://www.orpha.net/ORDO/Orphanet_451578
ClinVar:IKZF3 1 http://www.orpha.net/ORDO/Orphanet_451586
ClinVar:HSPA9 1 http://www.orpha.net/ORDO/Orphanet_451821
ClinVar:OVOL2 1 http://www.orpha.net/ORDO/Orphanet_453713
ClinVar:C13orf31 1 http://www.orpha.net/ORDO/Orphanet_454001
ClinVar:BCL10 1 http://www.orpha.net/ORDO/Orphanet_454025
ClinVar:S1PR2 1 http://www.orpha.net/ORDO/Orphanet_454902
ClinVar:VPS13C 1 http://www.orpha.net/ORDO/Orphanet_456083
ClinVar:SLC9A3 1 http://www.orpha.net/ORDO/Orphanet_456093
ClinVar:COX8A 1 http://www.orpha.net/ORDO/Orphanet_456175
ClinVar:RNF43 1 http://www.orpha.net/ORDO/Orphanet_456689
ClinVar:PER3 1 http://www.orpha.net/ORDO/Orphanet_456799
ClinVar:LMAN2L 1 http://www.orpha.net/ORDO/Orphanet_456803
ClinVar:DVL3 1 http://www.orpha.net/ORDO/Orphanet_456808
ClinVar:NUP93 1 http://www.orpha.net/ORDO/Orphanet_456826
ClinVar:NUP205 1 http://www.orpha.net/ORDO/Orphanet_456828
ClinVar:BMP6 1 http://www.orpha.net/ORDO/Orphanet_456982
ClinVar:MPC1 1 http://www.orpha.net/ORDO/Orphanet_456998
ClinVar:CAD 1 http://www.orpha.net/ORDO/Orphanet_457009
ClinVar:SLC9A1 1 http://www.orpha.net/ORDO/Orphanet_457065
ClinVar:POLR1A 1 http://www.orpha.net/ORDO/Orphanet_457098
ClinVar:DCPS 1 http://www.orpha.net/ORDO/Orphanet_457106
ClinVar:MYO18B 1 http://www.orpha.net/ORDO/Orphanet_457111
ClinVar:SLC1A4 1 http://www.orpha.net/ORDO/Orphanet_457197
ClinVar:FPR1 1 http://www.orpha.net/ORDO/Orphanet_457447
ClinVar:MAP3K14 1 http://www.orpha.net/ORDO/Orphanet_457451
ClinVar:DOCK2 1 http://www.orpha.net/ORDO/Orphanet_457458
ClinVar:DMXL2 1 http://www.orpha.net/ORDO/Orphanet_457490
ClinVar:PTRH2 1 http://www.orpha.net/ORDO/Orphanet_457522
ClinVar:CWF19L1 1 http://www.orpha.net/ORDO/Orphanet_457556
ClinVar:DLX4 1 http://www.orpha.net/ORDO/Orphanet_457562
ClinVar:IPMK 1 http://www.orpha.net/ORDO/Orphanet_457568
ClinVar:CLTCL1 1 http://www.orpha.net/ORDO/Orphanet_457570
ClinVar:HNRNPK 1 http://www.orpha.net/ORDO/Orphanet_457585
ClinVar:LMO1 1 http://www.orpha.net/ORDO/Orphanet_457735
ClinVar:PLAG1 1 http://www.orpha.net/ORDO/Orphanet_458247
ClinVar:NTHL1 1 http://www.orpha.net/ORDO/Orphanet_458253
ClinVar:RREB1 1 http://www.orpha.net/ORDO/Orphanet_458274
ClinVar:SEC24C 1 http://www.orpha.net/ORDO/Orphanet_458278
ClinVar:GTF2E2 1 http://www.orpha.net/ORDO/Orphanet_458989
ClinVar:CCDC88A 1 http://www.orpha.net/ORDO/Orphanet_459019
ClinVar:MME 1 http://www.orpha.net/ORDO/Orphanet_459043
ClinVar:MAGED2 1 http://www.orpha.net/ORDO/Orphanet_459084
ClinVar:MYOD1 1 http://www.orpha.net/ORDO/Orphanet_459238
ClinVar:MCM2 1 http://www.orpha.net/ORDO/Orphanet_459297
ClinVar:CD164 1 http://www.orpha.net/ORDO/Orphanet_459308
ClinVar:CDC14A 1 http://www.orpha.net/ORDO/Orphanet_459321
ClinVar:NANS 1 http://www.orpha.net/ORDO/Orphanet_459340
ClinVar:QKI 1 http://www.orpha.net/ORDO/Orphanet_460502
ClinVar:COQ4 1 http://www.orpha.net/ORDO/Orphanet_460622
ClinVar:ISCA2 1 http://www.orpha.net/ORDO/Orphanet_460630
ClinVar:XRCC4 1 http://www.orpha.net/ORDO/Orphanet_460650
ClinVar:MRPS7 1 http://www.orpha.net/ORDO/Orphanet_460660
ClinVar:PPP2R1A 1 http://www.orpha.net/ORDO/Orphanet_460669
ClinVar:PPP2R5D 1 http://www.orpha.net/ORDO/Orphanet_460676
ClinVar:FAM22E 1 http://www.orpha.net/ORDO/Orphanet_460693
ClinVar:IRX2 1 http://www.orpha.net/ORDO/Orphanet_460697
ClinVar:THOC2 1 http://www.orpha.net/ORDO/Orphanet_460700
ClinVar:HERC1 1 http://www.orpha.net/ORDO/Orphanet_460721
ClinVar:TAPT1 1 http://www.orpha.net/ORDO/Orphanet_460737
ClinVar:RSPRY1 1 http://www.orpha.net/ORDO/Orphanet_460740
ClinVar:CHAMP1 1 http://www.orpha.net/ORDO/Orphanet_460746
ClinVar:SPATA5 1 http://www.orpha.net/ORDO/Orphanet_460755
ClinVar:POLA1 1 http://www.orpha.net/ORDO/Orphanet_460832
ClinVar:PPP1R15B 1 http://www.orpha.net/ORDO/Orphanet_460842
ClinVar:DPH1 1 http://www.orpha.net/ORDO/Orphanet_460847
ClinVar:MAG 1 http://www.orpha.net/ORDO/Orphanet_460860
ClinVar:TRPC3 1 http://www.orpha.net/ORDO/Orphanet_460869
ClinVar:CACNA1G 1 http://www.orpha.net/ORDO/Orphanet_460876
ClinVar:SAMD9L 1 http://www.orpha.net/ORDO/Orphanet_461215
ClinVar:AGBL5 1 http://www.orpha.net/ORDO/Orphanet_461232
ClinVar:NEK9 1 http://www.orpha.net/ORDO/Orphanet_461239
ClinVar:SFRP4 1 http://www.orpha.net/ORDO/Orphanet_461302
ClinVar:TSEN15 1 http://www.orpha.net/ORDO/Orphanet_461308
ClinVar:PRDM6 1 http://www.orpha.net/ORDO/Orphanet_461326
ClinVar:TNIK 1 http://www.orpha.net/ORDO/Orphanet_461336
ClinVar:BGN 1 http://www.orpha.net/ORDO/Orphanet_461354
ClinVar:SMO 1 http://www.orpha.net/ORDO/Orphanet_461367
ClinVar:GANAB 1 http://www.orpha.net/ORDO/Orphanet_461381
ClinVar:CLCN4 1 http://www.orpha.net/ORDO/Orphanet_461754
ClinVar:CDC45 1 http://www.orpha.net/ORDO/Orphanet_461769
ClinVar:GUF1 1 http://www.orpha.net/ORDO/Orphanet_461782
ClinVar:UNC80 1 http://www.orpha.net/ORDO/Orphanet_463796
ClinVar:C16orf3 1 http://www.orpha.net/ORDO/Orphanet_463825
ClinVar:GPR23 1 http://www.orpha.net/ORDO/Orphanet_463829
ClinVar:DNAJB13 1 http://www.orpha.net/ORDO/Orphanet_464155
ClinVar:TTC25 1 http://www.orpha.net/ORDO/Orphanet_464166
ClinVar:CIT 1 http://www.orpha.net/ORDO/Orphanet_464175
ClinVar:LEMD2 1 http://www.orpha.net/ORDO/Orphanet_464297
ClinVar:FZD5 1 http://www.orpha.net/ORDO/Orphanet_464482
ClinVar:TUSC4 1 http://www.orpha.net/ORDO/Orphanet_465703
ClinVar:CGTHBA 1 http://www.orpha.net/ORDO/Orphanet_465709
ClinVar:KLHL10 1 http://www.orpha.net/ORDO/Orphanet_465725
ClinVar:RERE 1 http://www.orpha.net/ORDO/Orphanet_465808
ClinVar:TMEM126B 1 http://www.orpha.net/ORDO/Orphanet_465924
ClinVar:ELMO2 1 http://www.orpha.net/ORDO/Orphanet_465978
ClinVar:SERPINB8 1 http://www.orpha.net/ORDO/Orphanet_465986
ClinVar:ADGRG2 1 http://www.orpha.net/ORDO/Orphanet_466348
ClinVar:MAP3K7 1 http://www.orpha.net/ORDO/Orphanet_466382
ClinVar:PRMT7 1 http://www.orpha.net/ORDO/Orphanet_466391
ClinVar:LOX 1 http://www.orpha.net/ORDO/Orphanet_466397
ClinVar:FGF12 1 http://www.orpha.net/ORDO/Orphanet_466400
ClinVar:ATP4A 1 http://www.orpha.net/ORDO/Orphanet_467238
ClinVar:MMP19 1 http://www.orpha.net/ORDO/Orphanet_467266
ClinVar:PTPN14 1 http://www.orpha.net/ORDO/Orphanet_468087
ClinVar:FRMPD4 1 http://www.orpha.net/ORDO/Orphanet_468801
ClinVar:RLIM 1 http://www.orpha.net/ORDO/Orphanet_468831
ClinVar:USP27X 1 http://www.orpha.net/ORDO/Orphanet_468841
ClinVar:UBA5 1 http://www.orpha.net/ORDO/Orphanet_469050
ClinVar:GRIN2D 1 http://www.orpha.net/ORDO/Orphanet_469057
ClinVar:CHUK 1 http://www.orpha.net/ORDO/Orphanet_469582
ClinVar:NME7 1 http://www.orpha.net/ORDO/Orphanet_469734
ClinVar:ABCC1 1 http://www.orpha.net/ORDO/Orphanet_469890
ClinVar:ADSSL1 1 http://www.orpha.net/ORDO/Orphanet_469928
ClinVar:AGO1 1 http://www.orpha.net/ORDO/Orphanet_469930
ClinVar:AGO2 1 http://www.orpha.net/ORDO/Orphanet_469932
ClinVar:ANKS3 1 http://www.orpha.net/ORDO/Orphanet_469946
ClinVar:AP3D1 1 http://www.orpha.net/ORDO/Orphanet_469950
ClinVar:ARCN1 1 http://www.orpha.net/ORDO/Orphanet_469958
ClinVar:ARID2 1 http://www.orpha.net/ORDO/Orphanet_469962
ClinVar:ATAD3A 1 http://www.orpha.net/ORDO/Orphanet_469968
ClinVar:AXIN1 1 http://www.orpha.net/ORDO/Orphanet_469974
ClinVar:BCORL1 1 http://www.orpha.net/ORDO/Orphanet_469984
ClinVar:BDP1 1 http://www.orpha.net/ORDO/Orphanet_469986
ClinVar:BVES 1 http://www.orpha.net/ORDO/Orphanet_470014
ClinVar:HIKESHI 1 http://www.orpha.net/ORDO/Orphanet_470016
ClinVar:CACNA1B 1 http://www.orpha.net/ORDO/Orphanet_470026
ClinVar:CARS2 1 http://www.orpha.net/ORDO/Orphanet_470034
ClinVar:CCDC115 1 http://www.orpha.net/ORDO/Orphanet_470040
ClinVar:C3orf19 1 http://www.orpha.net/ORDO/Orphanet_470042
ClinVar:CD70 1 http://www.orpha.net/ORDO/Orphanet_470052
ClinVar:CDC42 1 http://www.orpha.net/ORDO/Orphanet_470056
ClinVar:CELSR1 1 http://www.orpha.net/ORDO/Orphanet_470064
ClinVar:CHD4 1 http://www.orpha.net/ORDO/Orphanet_470084
ClinVar:CHD5 1 http://www.orpha.net/ORDO/Orphanet_470086
ClinVar:CIB1 1 http://www.orpha.net/ORDO/Orphanet_470098
ClinVar:CIZ1 1 http://www.orpha.net/ORDO/Orphanet_470102
ClinVar:COQ7 1 http://www.orpha.net/ORDO/Orphanet_470128
ClinVar:CSNK2A1 1 http://www.orpha.net/ORDO/Orphanet_470140
ClinVar:CTNND1 1 http://www.orpha.net/ORDO/Orphanet_470146
ClinVar:CUX1 1 http://www.orpha.net/ORDO/Orphanet_470150
ClinVar:CUX2 1 http://www.orpha.net/ORDO/Orphanet_470152
ClinVar:DDX41 1 http://www.orpha.net/ORDO/Orphanet_470180
ClinVar:DHX38 1 http://www.orpha.net/ORDO/Orphanet_470184
ClinVar:DLEC1 1 http://www.orpha.net/ORDO/Orphanet_470200
ClinVar:DLG1 1 http://www.orpha.net/ORDO/Orphanet_470204
ClinVar:DLX6 1 http://www.orpha.net/ORDO/Orphanet_470220
ClinVar:DNAH10 1 http://www.orpha.net/ORDO/Orphanet_470234
ClinVar:EIF2S3 1 http://www.orpha.net/ORDO/Orphanet_470266
ClinVar:EMC1 1 http://www.orpha.net/ORDO/Orphanet_470272
ClinVar:EMILIN1 1 http://www.orpha.net/ORDO/Orphanet_470274
ClinVar:EPO 1 http://www.orpha.net/ORDO/Orphanet_470286
ClinVar:ERBIN 1 http://www.orpha.net/ORDO/Orphanet_470292
ClinVar:FBXO28 1 http://www.orpha.net/ORDO/Orphanet_470322
ClinVar:FLAD1 1 http://www.orpha.net/ORDO/Orphanet_470342
ClinVar:FOXA2 1 http://www.orpha.net/ORDO/Orphanet_470348
ClinVar:GABBR2 1 http://www.orpha.net/ORDO/Orphanet_470362
ClinVar:GABRB2 1 http://www.orpha.net/ORDO/Orphanet_470366
ClinVar:GFM2 1 http://www.orpha.net/ORDO/Orphanet_470376
ClinVar:GINS1 1 http://www.orpha.net/ORDO/Orphanet_470380
ClinVar:GPT2 1 http://www.orpha.net/ORDO/Orphanet_470404
ClinVar:GREB1L 1 http://www.orpha.net/ORDO/Orphanet_470408
ClinVar:HAND2 1 http://www.orpha.net/ORDO/Orphanet_470430
ClinVar:HEY2 1 http://www.orpha.net/ORDO/Orphanet_470446
ClinVar:HIVEP2 1 http://www.orpha.net/ORDO/Orphanet_470458
ClinVar:HMOX1 1 http://www.orpha.net/ORDO/Orphanet_470460
ClinVar:HNRNPU 1 http://www.orpha.net/ORDO/Orphanet_470462
ClinVar:IFNAR2 1 http://www.orpha.net/ORDO/Orphanet_470482
ClinVar:IFT52 1 http://www.orpha.net/ORDO/Orphanet_470484
ClinVar:IFT57 1 http://www.orpha.net/ORDO/Orphanet_470486
ClinVar:IFT74 1 http://www.orpha.net/ORDO/Orphanet_470488
ClinVar:INO80 1 http://www.orpha.net/ORDO/Orphanet_470504
ClinVar:IQSEC1 1 http://www.orpha.net/ORDO/Orphanet_470510
ClinVar:IRF4 1 http://www.orpha.net/ORDO/Orphanet_470516
ClinVar:IRF7 1 http://www.orpha.net/ORDO/Orphanet_470518
ClinVar:ISCA1 1 http://www.orpha.net/ORDO/Orphanet_470522
ClinVar:KCNQ5 1 http://www.orpha.net/ORDO/Orphanet_470538
ClinVar:KDM5B 1 http://www.orpha.net/ORDO/Orphanet_470544
ClinVar:KIDINS220 1 http://www.orpha.net/ORDO/Orphanet_470550
ClinVar:LAMA5 1 http://www.orpha.net/ORDO/Orphanet_470582
ClinVar:MAGI2 1 http://www.orpha.net/ORDO/Orphanet_470624
ClinVar:MCIDAS 1 http://www.orpha.net/ORDO/Orphanet_470644
ClinVar:MDH2 1 http://www.orpha.net/ORDO/Orphanet_470648
ClinVar:MFF 1 http://www.orpha.net/ORDO/Orphanet_470656
ClinVar:MIPEP 1 http://www.orpha.net/ORDO/Orphanet_470664
ClinVar:RANGRF 1 http://www.orpha.net/ORDO/Orphanet_470676
ClinVar:MORC2 1 http://www.orpha.net/ORDO/Orphanet_470678
ClinVar:MSH5 1 http://www.orpha.net/ORDO/Orphanet_470690
ClinVar:MSN 1 http://www.orpha.net/ORDO/Orphanet_470694
ClinVar:MTHFS 1 http://www.orpha.net/ORDO/Orphanet_470698
ClinVar:MYRF 1 http://www.orpha.net/ORDO/Orphanet_470718
ClinVar:MYSM1 1 http://www.orpha.net/ORDO/Orphanet_470720
ClinVar:MYT1L 1 http://www.orpha.net/ORDO/Orphanet_470722
ClinVar:NDUFA6 1 http://www.orpha.net/ORDO/Orphanet_470736
ClinVar:NDUFB10 1 http://www.orpha.net/ORDO/Orphanet_470748
ClinVar:NEDD4L 1 http://www.orpha.net/ORDO/Orphanet_470768
ClinVar:NFAT5 1 http://www.orpha.net/ORDO/Orphanet_470770
ClinVar:NIPA2 1 http://www.orpha.net/ORDO/Orphanet_470780
ClinVar:NTN1 1 http://www.orpha.net/ORDO/Orphanet_470800
ClinVar:OBSCN 1 http://www.orpha.net/ORDO/Orphanet_470810
ClinVar:P4HTM 1 http://www.orpha.net/ORDO/Orphanet_470826
ClinVar:PACS2 1 http://www.orpha.net/ORDO/Orphanet_470828
ClinVar:PGRMC1 1 http://www.orpha.net/ORDO/Orphanet_470872
ClinVar:PHIP 1 http://www.orpha.net/ORDO/Orphanet_470874
ClinVar:PMP2 1 http://www.orpha.net/ORDO/Orphanet_470892
ClinVar:POGZ 1 http://www.orpha.net/ORDO/Orphanet_470896
ClinVar:PPP1CB 1 http://www.orpha.net/ORDO/Orphanet_470902
ClinVar:PRDM12 1 http://www.orpha.net/ORDO/Orphanet_470906
ClinVar:PUF60 1 http://www.orpha.net/ORDO/Orphanet_470934
ClinVar:RAC1 1 http://www.orpha.net/ORDO/Orphanet_470948
ClinVar:RNF170 1 http://www.orpha.net/ORDO/Orphanet_470984
ClinVar:RORA 1 http://www.orpha.net/ORDO/Orphanet_470992
ClinVar:RORC 1 http://www.orpha.net/ORDO/Orphanet_470996
ClinVar:RPL27 1 http://www.orpha.net/ORDO/Orphanet_470998
ClinVar:RPL31 1 http://www.orpha.net/ORDO/Orphanet_471000
ClinVar:RPL9 1 http://www.orpha.net/ORDO/Orphanet_471004
ClinVar:RPS27 1 http://www.orpha.net/ORDO/Orphanet_471006
ClinVar:RRAS 1 http://www.orpha.net/ORDO/Orphanet_471012
ClinVar:RTN4IP1 1 http://www.orpha.net/ORDO/Orphanet_471014
ClinVar:SCLT1 1 http://www.orpha.net/ORDO/Orphanet_471030
ClinVar:SCN3A 1 http://www.orpha.net/ORDO/Orphanet_471032
ClinVar:SCYL1 1 http://www.orpha.net/ORDO/Orphanet_471036
ClinVar:SIN3A 1 http://www.orpha.net/ORDO/Orphanet_471062
ClinVar:SLC18A3 1 http://www.orpha.net/ORDO/Orphanet_471070
ClinVar:SLC1A2 1 http://www.orpha.net/ORDO/Orphanet_471072
ClinVar:SLC25A32 1 http://www.orpha.net/ORDO/Orphanet_471076
ClinVar:SLC4A10 1 http://www.orpha.net/ORDO/Orphanet_471090
ClinVar:SLC6A14 1 http://www.orpha.net/ORDO/Orphanet_471096
ClinVar:SLFN14 1 http://www.orpha.net/ORDO/Orphanet_471110
ClinVar:SMAD2 1 http://www.orpha.net/ORDO/Orphanet_471112
ClinVar:SMARCC2 1 http://www.orpha.net/ORDO/Orphanet_471116
ClinVar:SOBP 1 http://www.orpha.net/ORDO/Orphanet_471128
ClinVar:SON 1 http://www.orpha.net/ORDO/Orphanet_471134
ClinVar:SRSF2 1 http://www.orpha.net/ORDO/Orphanet_471152
ClinVar:STAG1 1 http://www.orpha.net/ORDO/Orphanet_471156
ClinVar:STAG2 1 http://www.orpha.net/ORDO/Orphanet_471160
ClinVar:SYT1 1 http://www.orpha.net/ORDO/Orphanet_471178
ClinVar:TAB2 1 http://www.orpha.net/ORDO/Orphanet_471180
ClinVar:TBCD 1 http://www.orpha.net/ORDO/Orphanet_471192
ClinVar:TBR1 1 http://www.orpha.net/ORDO/Orphanet_471194
ClinVar:TCF20 1 http://www.orpha.net/ORDO/Orphanet_471196
ClinVar:TCF7L2 1 http://www.orpha.net/ORDO/Orphanet_471198
ClinVar:TFRC 1 http://www.orpha.net/ORDO/Orphanet_471214
ClinVar:TIMMDC1 1 http://www.orpha.net/ORDO/Orphanet_471224
ClinVar:TMEM107 1 http://www.orpha.net/ORDO/Orphanet_471232
ClinVar:TMEM199 1 http://www.orpha.net/ORDO/Orphanet_471234
ClinVar:TNFRSF9 1 http://www.orpha.net/ORDO/Orphanet_471244
ClinVar:TDO2 1 http://www.orpha.net/ORDO/Orphanet_471250
ClinVar:TRIO 1 http://www.orpha.net/ORDO/Orphanet_471260
ClinVar:TRIP12 1 http://www.orpha.net/ORDO/Orphanet_471262
ClinVar:TRIP4 1 http://www.orpha.net/ORDO/Orphanet_471264
ClinVar:TUBG1 1 http://www.orpha.net/ORDO/Orphanet_471276
ClinVar:UFM1 1 http://www.orpha.net/ORDO/Orphanet_471288
ClinVar:UQCRFS1 1 http://www.orpha.net/ORDO/Orphanet_471302
ClinVar:USP7 1 http://www.orpha.net/ORDO/Orphanet_471312
ClinVar:WAC 1 http://www.orpha.net/ORDO/Orphanet_471320
ClinVar:WARS2 1 http://www.orpha.net/ORDO/Orphanet_471324
ClinVar:WDR4 1 http://www.orpha.net/ORDO/Orphanet_471328
ClinVar:XPO1 1 http://www.orpha.net/ORDO/Orphanet_471340
ClinVar:YY1 1 http://www.orpha.net/ORDO/Orphanet_471344
ClinVar:ZFHX4 1 http://www.orpha.net/ORDO/Orphanet_471352
ClinVar:ZNF526 1 http://www.orpha.net/ORDO/Orphanet_471362
ClinVar:DYNC2LI1 1 http://www.orpha.net/ORDO/Orphanet_474406
ClinVar:ESR2 1 http://www.orpha.net/ORDO/Orphanet_474419
ClinVar:PODXL 1 http://www.orpha.net/ORDO/Orphanet_474429
ClinVar:GPR68 1 http://www.orpha.net/ORDO/Orphanet_474467
ClinVar:PKD1L1 1 http://www.orpha.net/ORDO/Orphanet_475300
ClinVar:KIAA0753 1 http://www.orpha.net/ORDO/Orphanet_476149
ClinVar:MBOAT7 1 http://www.orpha.net/ORDO/Orphanet_476167
ClinVar:P2RX7 1 http://www.orpha.net/ORDO/Orphanet_476274
ClinVar:PIH1D3 1 http://www.orpha.net/ORDO/Orphanet_476289
ClinVar:CRIM1 1 http://www.orpha.net/ORDO/Orphanet_476789
ClinVar:CYSLTR2 1 http://www.orpha.net/ORDO/Orphanet_476812
ClinVar:DUX4 1 http://www.orpha.net/ORDO/Orphanet_476816
ClinVar:VPS11 1 http://www.orpha.net/ORDO/Orphanet_476835
ClinVar:PLA2G4A 1 http://www.orpha.net/ORDO/Orphanet_476850
ClinVar:SLC25A26 1 http://www.orpha.net/ORDO/Orphanet_476887
ClinVar:SLC39A8 1 http://www.orpha.net/ORDO/Orphanet_476906
ClinVar:UBB 1 http://www.orpha.net/ORDO/Orphanet_477022
ClinVar:FRMD4A 1 http://www.orpha.net/ORDO/Orphanet_477056
ClinVar:MAPKAPK3 1 http://www.orpha.net/ORDO/Orphanet_477107
ClinVar:ITPR2 1 http://www.orpha.net/ORDO/Orphanet_477144
ClinVar:KCTD17 1 http://www.orpha.net/ORDO/Orphanet_477195
ClinVar:RCBTB1 1 http://www.orpha.net/ORDO/Orphanet_477262
ClinVar:GNA14 1 http://www.orpha.net/ORDO/Orphanet_477268
ClinVar:MAD2L2 1 http://www.orpha.net/ORDO/Orphanet_477480
ClinVar:PADI3 1 http://www.orpha.net/ORDO/Orphanet_477544
ClinVar:TGM3 1 http://www.orpha.net/ORDO/Orphanet_477553
ClinVar:MYL4 1 http://www.orpha.net/ORDO/Orphanet_477581
ClinVar:PLD3 1 http://www.orpha.net/ORDO/Orphanet_478190
ClinVar:KDM1A 1 http://www.orpha.net/ORDO/Orphanet_478263
ClinVar:RNF6 1 http://www.orpha.net/ORDO/Orphanet_478773
ClinVar:IARS 1 http://www.orpha.net/ORDO/Orphanet_479203
ClinVar:TANGO2 1 http://www.orpha.net/ORDO/Orphanet_479217
ClinVar:VPS4B 1 http://www.orpha.net/ORDO/Orphanet_479239
ClinVar:MYO9A 1 http://www.orpha.net/ORDO/Orphanet_479262
ClinVar:SH3PXD2A 1 http://www.orpha.net/ORDO/Orphanet_479811
ClinVar:KLHDC8B 1 http://www.orpha.net/ORDO/Orphanet_483838
ClinVar:TRMT5 1 http://www.orpha.net/ORDO/Orphanet_483985
ClinVar:TXN2 1 http://www.orpha.net/ORDO/Orphanet_484004
ClinVar:USP6 1 http://www.orpha.net/ORDO/Orphanet_484073
ClinVar:SRC 1 http://www.orpha.net/ORDO/Orphanet_484091
ClinVar:TRMT10C 1 http://www.orpha.net/ORDO/Orphanet_484097
ClinVar:USP18 1 http://www.orpha.net/ORDO/Orphanet_484112
ClinVar:FCGR2C 1 http://www.orpha.net/ORDO/Orphanet_484159
ClinVar:TNFRSF10B 1 http://www.orpha.net/ORDO/Orphanet_484167
ClinVar:OGG1 1 http://www.orpha.net/ORDO/Orphanet_484183
ClinVar:DIRC2 1 http://www.orpha.net/ORDO/Orphanet_484197
ClinVar:CCNF 1 http://www.orpha.net/ORDO/Orphanet_484208
ClinVar:MINPP1 1 http://www.orpha.net/ORDO/Orphanet_484336
ClinVar:PDGFRL 1 http://www.orpha.net/ORDO/Orphanet_484368
ClinVar:TENM1 1 http://www.orpha.net/ORDO/Orphanet_484588
ClinVar:SLC6A9 1 http://www.orpha.net/ORDO/Orphanet_484597
ClinVar:YY1AP1 1 http://www.orpha.net/ORDO/Orphanet_484673
ClinVar:ACPT 1 http://www.orpha.net/ORDO/Orphanet_484692
ClinVar:REEP6 1 http://www.orpha.net/ORDO/Orphanet_484733
ClinVar:KEAP1 1 http://www.orpha.net/ORDO/Orphanet_485012
ClinVar:TMEM106B 1 http://www.orpha.net/ORDO/Orphanet_485177
ClinVar:AP3B2 1 http://www.orpha.net/ORDO/Orphanet_485515
ClinVar:TOE1 1 http://www.orpha.net/ORDO/Orphanet_485536
ClinVar:MAPKBP1 1 http://www.orpha.net/ORDO/Orphanet_485540
ClinVar:ATP6V1E1 1 http://www.orpha.net/ORDO/Orphanet_485544
ClinVar:ATP6V1A 1 http://www.orpha.net/ORDO/Orphanet_485554
ClinVar:ARHGEF18 1 http://www.orpha.net/ORDO/Orphanet_485569
ClinVar:COLEC10 1 http://www.orpha.net/ORDO/Orphanet_486844
ClinVar:C12orf4 1 http://www.orpha.net/ORDO/Orphanet_486881
ClinVar:AHSG 1 http://www.orpha.net/ORDO/Orphanet_486883
ClinVar:TOMM40 1 http://www.orpha.net/ORDO/Orphanet_487075
ClinVar:TAF13 1 http://www.orpha.net/ORDO/Orphanet_487189
ClinVar:ZNHIT3 1 http://www.orpha.net/ORDO/Orphanet_487198
ClinVar:DNAJC21 1 http://www.orpha.net/ORDO/Orphanet_487206
ClinVar:INPP5K 1 http://www.orpha.net/ORDO/Orphanet_487237
ClinVar:EED 1 http://www.orpha.net/ORDO/Orphanet_487242
ClinVar:PYCR2 1 http://www.orpha.net/ORDO/Orphanet_487248
ClinVar:EXOC6B 1 http://www.orpha.net/ORDO/Orphanet_487851
ClinVar:KDSR 1 http://www.orpha.net/ORDO/Orphanet_488601
ClinVar:KCNN3 1 http://www.orpha.net/ORDO/Orphanet_489883
ClinVar:RAB11A 1 http://www.orpha.net/ORDO/Orphanet_489892
ClinVar:SLC10A1 1 http://www.orpha.net/ORDO/Orphanet_489900
ClinVar:LMOD1 1 http://www.orpha.net/ORDO/Orphanet_489957
ClinVar:MAT2A 1 http://www.orpha.net/ORDO/Orphanet_489963
ClinVar:TKT 1 http://www.orpha.net/ORDO/Orphanet_489978
ClinVar:SARS 1 http://www.orpha.net/ORDO/Orphanet_490384
ClinVar:PIGP 1 http://www.orpha.net/ORDO/Orphanet_490390
ClinVar:MIB2 1 http://www.orpha.net/ORDO/Orphanet_490407
ClinVar:KIF15 1 http://www.orpha.net/ORDO/Orphanet_490415
ClinVar:COX5A 1 http://www.orpha.net/ORDO/Orphanet_490421
ClinVar:SPIDR 1 http://www.orpha.net/ORDO/Orphanet_490429
ClinVar:DDRGK1 1 http://www.orpha.net/ORDO/Orphanet_490432
ClinVar:PIGC 1 http://www.orpha.net/ORDO/Orphanet_490620
ClinVar:ARHGAP29 1 http://www.orpha.net/ORDO/Orphanet_490627
ClinVar:ANXA11 1 http://www.orpha.net/ORDO/Orphanet_490636
ClinVar:SLC45A1 1 http://www.orpha.net/ORDO/Orphanet_490652
ClinVar:CFAP43 1 http://www.orpha.net/ORDO/Orphanet_490660
ClinVar:CFAP44 1 http://www.orpha.net/ORDO/Orphanet_490669
ClinVar:SULT2B1 1 http://www.orpha.net/ORDO/Orphanet_490675
ClinVar:CTSB 1 http://www.orpha.net/ORDO/Orphanet_490687
ClinVar:TRIP13 1 http://www.orpha.net/ORDO/Orphanet_491184
ClinVar:ERAL1 1 http://www.orpha.net/ORDO/Orphanet_491197
ClinVar:DAB1 1 http://www.orpha.net/ORDO/Orphanet_491203
ClinVar:MSH3 1 http://www.orpha.net/ORDO/Orphanet_491234
ClinVar:PLAT 1 http://www.orpha.net/ORDO/Orphanet_491288
ClinVar:LGI4 1 http://www.orpha.net/ORDO/Orphanet_491337
ClinVar:CEP78 1 http://www.orpha.net/ORDO/Orphanet_492337
ClinVar:CIC 1 http://www.orpha.net/ORDO/Orphanet_492418
ClinVar:AMTN 1 http://www.orpha.net/ORDO/Orphanet_492424
ClinVar:ARMC9 1 http://www.orpha.net/ORDO/Orphanet_492429
ClinVar:ROR1 1 http://www.orpha.net/ORDO/Orphanet_492445
ClinVar:WBP2 1 http://www.orpha.net/ORDO/Orphanet_492456
ClinVar:SLC44A4 1 http://www.orpha.net/ORDO/Orphanet_492464
ClinVar:DZIP1L 1 http://www.orpha.net/ORDO/Orphanet_492474
ClinVar:EPS8L2 1 http://www.orpha.net/ORDO/Orphanet_492482
ClinVar:IFT88 1 http://www.orpha.net/ORDO/Orphanet_492557
ClinVar:PIBF1 1 http://www.orpha.net/ORDO/Orphanet_492567
ClinVar:CAPN1 1 http://www.orpha.net/ORDO/Orphanet_492579
ClinVar:CSNK2B 1 http://www.orpha.net/ORDO/Orphanet_493393
ClinVar:CPLX1 1 http://www.orpha.net/ORDO/Orphanet_493398
ClinVar:STK36 1 http://www.orpha.net/ORDO/Orphanet_493411
ClinVar:ARSG 1 http://www.orpha.net/ORDO/Orphanet_493542
ClinVar:TAF1A 1 http://www.orpha.net/ORDO/Orphanet_493592
ClinVar:IQCE 1 http://www.orpha.net/ORDO/Orphanet_493604
ClinVar:SEMA6B 1 http://www.orpha.net/ORDO/Orphanet_493669
ClinVar:MECR 1 http://www.orpha.net/ORDO/Orphanet_493689
ClinVar:QRSL1 1 http://www.orpha.net/ORDO/Orphanet_493713
ClinVar:TIMM50 1 http://www.orpha.net/ORDO/Orphanet_493721
ClinVar:RHOA 1 http://www.orpha.net/ORDO/Orphanet_493953
ClinVar:SGPL1 1 http://www.orpha.net/ORDO/Orphanet_494042
ClinVar:ASH1L 1 http://www.orpha.net/ORDO/Orphanet_494085
ClinVar:KMT2C 1 http://www.orpha.net/ORDO/Orphanet_494099
ClinVar:WDFY3 1 http://www.orpha.net/ORDO/Orphanet_494111
ClinVar:KY 1 http://www.orpha.net/ORDO/Orphanet_494163
ClinVar:CCDC141 1 http://www.orpha.net/ORDO/Orphanet_494220
ClinVar:RPL35 1 http://www.orpha.net/ORDO/Orphanet_494225
ClinVar:RPL18 1 http://www.orpha.net/ORDO/Orphanet_494233
ClinVar:ZP2 1 http://www.orpha.net/ORDO/Orphanet_494237
ClinVar:ZP3 1 http://www.orpha.net/ORDO/Orphanet_494241
ClinVar:FLT1 1 http://www.orpha.net/ORDO/Orphanet_494252
ClinVar:CDK13 1 http://www.orpha.net/ORDO/Orphanet_494881
ClinVar:GNB1 1 http://www.orpha.net/ORDO/Orphanet_494894
ClinVar:EBF3 1 http://www.orpha.net/ORDO/Orphanet_494899
ClinVar:SET 1 http://www.orpha.net/ORDO/Orphanet_494919
ClinVar:SETD1A 1 http://www.orpha.net/ORDO/Orphanet_494927
ClinVar:TBCK 1 http://www.orpha.net/ORDO/Orphanet_494934
ClinVar:PLXNA1 1 http://www.orpha.net/ORDO/Orphanet_495025
ClinVar:DONSON 1 http://www.orpha.net/ORDO/Orphanet_495196
ClinVar:SLC9A7 1 http://www.orpha.net/ORDO/Orphanet_495231
ClinVar:STRADA 1 http://www.orpha.net/ORDO/Orphanet_495237
ClinVar:YWHAG 1 http://www.orpha.net/ORDO/Orphanet_495297
ClinVar:GOPC 1 http://www.orpha.net/ORDO/Orphanet_495680
ClinVar:WDR1 1 http://www.orpha.net/ORDO/Orphanet_495724
ClinVar:WARS 1 http://www.orpha.net/ORDO/Orphanet_495760
ClinVar:ROBO1 1 http://www.orpha.net/ORDO/Orphanet_495783
ClinVar:FRRS1L 1 http://www.orpha.net/ORDO/Orphanet_496171
ClinVar:PIGG 1 http://www.orpha.net/ORDO/Orphanet_496177
ClinVar:SIX2 1 http://www.orpha.net/ORDO/Orphanet_496461
ClinVar:OSGEP 1 http://www.orpha.net/ORDO/Orphanet_496652
ClinVar:TP53RK 1 http://www.orpha.net/ORDO/Orphanet_496659
ClinVar:TPRKB 1 http://www.orpha.net/ORDO/Orphanet_496669
ClinVar:LAGE3 1 http://www.orpha.net/ORDO/Orphanet_496676
ClinVar:PATL2 1 http://www.orpha.net/ORDO/Orphanet_496728
ClinVar:MEIOB 1 http://www.orpha.net/ORDO/Orphanet_496737
ClinVar:VAC14 1 http://www.orpha.net/ORDO/Orphanet_496768
ClinVar:DGAT2 1 http://www.orpha.net/ORDO/Orphanet_496874
ClinVar:TUBB8 1 http://www.orpha.net/ORDO/Orphanet_496896
ClinVar:GNB3 1 http://www.orpha.net/ORDO/Orphanet_497094
ClinVar:PUS3 1 http://www.orpha.net/ORDO/Orphanet_497119
ClinVar:TELO2 1 http://www.orpha.net/ORDO/Orphanet_497130
ClinVar:RFWD3 1 http://www.orpha.net/ORDO/Orphanet_498301
ClinVar:TDRD9 1 http://www.orpha.net/ORDO/Orphanet_498311
ClinVar:SCAPER 1 http://www.orpha.net/ORDO/Orphanet_498336
ClinVar:CAMK2A 1 http://www.orpha.net/ORDO/Orphanet_498760
ClinVar:CAMK2B 1 http://www.orpha.net/ORDO/Orphanet_498771
ClinVar:CEP55 1 http://www.orpha.net/ORDO/Orphanet_498796
ClinVar:ABCA7 1 http://www.orpha.net/ORDO/Orphanet_499821
ClinVar:PDE10A 1 http://www.orpha.net/ORDO/Orphanet_500277
ClinVar:COX4I1 1 http://www.orpha.net/ORDO/Orphanet_500290
ClinVar:CFHR2 1 http://www.orpha.net/ORDO/Orphanet_500313
ClinVar:EXOSC2 1 http://www.orpha.net/ORDO/Orphanet_500352
ClinVar:NUS1 1 http://www.orpha.net/ORDO/Orphanet_500484
ClinVar:PPP3CA 1 http://www.orpha.net/ORDO/Orphanet_500509
ClinVar:SLC25A24 1 http://www.orpha.net/ORDO/Orphanet_500523
ClinVar:TMTC3 1 http://www.orpha.net/ORDO/Orphanet_500722
ClinVar:GLI1 1 http://www.orpha.net/ORDO/Orphanet_500726
ClinVar:DNAL4 1 http://www.orpha.net/ORDO/Orphanet_500851
ClinVar:ADAMTS3 1 http://www.orpha.net/ORDO/Orphanet_500862
ClinVar:CDH11 1 http://www.orpha.net/ORDO/Orphanet_501654
ClinVar:MYO1H 1 http://www.orpha.net/ORDO/Orphanet_501662
ClinVar:FLG2 1 http://www.orpha.net/ORDO/Orphanet_501665
ClinVar:ARL3 1 http://www.orpha.net/ORDO/Orphanet_502538
ClinVar:SRP54 1 http://www.orpha.net/ORDO/Orphanet_502623
ClinVar:NXN 1 http://www.orpha.net/ORDO/Orphanet_503127
ClinVar:CLDN10 1 http://www.orpha.net/ORDO/Orphanet_503304
ClinVar:SMARCD2 1 http://www.orpha.net/ORDO/Orphanet_504704
ClinVar:GGPS1 1 http://www.orpha.net/ORDO/Orphanet_504745
ClinVar:COPB2 1 http://www.orpha.net/ORDO/Orphanet_505319
ClinVar:SSBP1 1 http://www.orpha.net/ORDO/Orphanet_505326
ClinVar:LRRK1 1 http://www.orpha.net/ORDO/Orphanet_505586
ClinVar:NACC1 1 http://www.orpha.net/ORDO/Orphanet_505596
ClinVar:HTR1A 1 http://www.orpha.net/ORDO/Orphanet_505623
ClinVar:PLCB3 1 http://www.orpha.net/ORDO/Orphanet_505829
ClinVar:GGT1 1 http://www.orpha.net/ORDO/Orphanet_506401
ClinVar:CDK19 1 http://www.orpha.net/ORDO/Orphanet_506519
ClinVar:SMARCD1 1 http://www.orpha.net/ORDO/Orphanet_507587
ClinVar:SDR9C7 1 http://www.orpha.net/ORDO/Orphanet_507834
ClinVar:EPS15L1 1 http://www.orpha.net/ORDO/Orphanet_507848
ClinVar:KIF20A 1 http://www.orpha.net/ORDO/Orphanet_507868
ClinVar:SPAG17 1 http://www.orpha.net/ORDO/Orphanet_507877
ClinVar:ANGPTL6 1 http://www.orpha.net/ORDO/Orphanet_507938
ClinVar:GPRASP2 1 http://www.orpha.net/ORDO/Orphanet_507966
ClinVar:NKX6-2 1 http://www.orpha.net/ORDO/Orphanet_507998
ClinVar:TRAPPC12 1 http://www.orpha.net/ORDO/Orphanet_508018
ClinVar:UBTF 1 http://www.orpha.net/ORDO/Orphanet_508029
ClinVar:FIBP 1 http://www.orpha.net/ORDO/Orphanet_508071
ClinVar:ACER3 1 http://www.orpha.net/ORDO/Orphanet_508638
ClinVar:MSTO1 1 http://www.orpha.net/ORDO/Orphanet_508692
ClinVar:ZNF462 1 http://www.orpha.net/ORDO/Orphanet_508711
ClinVar:BCL11B 1 http://www.orpha.net/ORDO/Orphanet_508946
ClinVar:CDH2 1 http://www.orpha.net/ORDO/Orphanet_508970
ClinVar:CHD1 1 http://www.orpha.net/ORDO/Orphanet_508976
ClinVar:EPHB4 1 http://www.orpha.net/ORDO/Orphanet_509002
ClinVar:ERBB2 1 http://www.orpha.net/ORDO/Orphanet_509006
ClinVar:IL6ST 1 http://www.orpha.net/ORDO/Orphanet_509080
ClinVar:JAK1 1 http://www.orpha.net/ORDO/Orphanet_509088
ClinVar:KMT2B 1 http://www.orpha.net/ORDO/Orphanet_509094
ClinVar:MSH4 1 http://www.orpha.net/ORDO/Orphanet_509142
ClinVar:NFE2L2 1 http://www.orpha.net/ORDO/Orphanet_509152
ClinVar:PIK3C2A 1 http://www.orpha.net/ORDO/Orphanet_509184
ClinVar:RINT1 1 http://www.orpha.net/ORDO/Orphanet_509232
ClinVar:RIPK1 1 http://www.orpha.net/ORDO/Orphanet_509234
ClinVar:RNF2 1 http://www.orpha.net/ORDO/Orphanet_509236
ClinVar:SOCS1 1 http://www.orpha.net/ORDO/Orphanet_509258
ClinVar:SPEN 1 http://www.orpha.net/ORDO/Orphanet_509260
ClinVar:SPOP 1 http://www.orpha.net/ORDO/Orphanet_509262
ClinVar:TRAF7 1 http://www.orpha.net/ORDO/Orphanet_509296
ClinVar:TRRAP 1 http://www.orpha.net/ORDO/Orphanet_509298
ClinVar:ZNRF3 1 http://www.orpha.net/ORDO/Orphanet_509320
ClinVar:VPS33A 1 http://www.orpha.net/ORDO/Orphanet_510655
ClinVar:SLC30A9 1 http://www.orpha.net/ORDO/Orphanet_510688
ClinVar:TRAK1 1 http://www.orpha.net/ORDO/Orphanet_510714
ClinVar:OTUD6B 1 http://www.orpha.net/ORDO/Orphanet_510723
ClinVar:LAT 1 http://www.orpha.net/ORDO/Orphanet_510728
ClinVar:CNPY3 1 http://www.orpha.net/ORDO/Orphanet_512271
ClinVar:GPNMB 1 http://www.orpha.net/ORDO/Orphanet_513401
ClinVar:CXorf56 1 http://www.orpha.net/ORDO/Orphanet_513418
ClinVar:SLC25A11 1 http://www.orpha.net/ORDO/Orphanet_513512
ClinVar:ERGIC1 1 http://www.orpha.net/ORDO/Orphanet_514478
ClinVar:DPF2 1 http://www.orpha.net/ORDO/Orphanet_514488
ClinVar:OAS1 1 http://www.orpha.net/ORDO/Orphanet_514506
ClinVar:CFAP300 1 http://www.orpha.net/ORDO/Orphanet_514560
ClinVar:WEE2 1 http://www.orpha.net/ORDO/Orphanet_514572
ClinVar:GABRA5 1 http://www.orpha.net/ORDO/Orphanet_517194
ClinVar:AK7 1 http://www.orpha.net/ORDO/Orphanet_517501
ClinVar:ATAD1 1 http://www.orpha.net/ORDO/Orphanet_517513
ClinVar:TEX15 1 http://www.orpha.net/ORDO/Orphanet_517526
ClinVar:CYFIP2 1 http://www.orpha.net/ORDO/Orphanet_517552
ClinVar:RSPO2 1 http://www.orpha.net/ORDO/Orphanet_517610
ClinVar:EXTL3 1 http://www.orpha.net/ORDO/Orphanet_517879
ClinVar:HYAL2 1 http://www.orpha.net/ORDO/Orphanet_517886
ClinVar:RMI2 1 http://www.orpha.net/ORDO/Orphanet_517915
ClinVar:DNAJC12 1 http://www.orpha.net/ORDO/Orphanet_517925
ClinVar:KLHL24 1 http://www.orpha.net/ORDO/Orphanet_517933
ClinVar:WDR26 1 http://www.orpha.net/ORDO/Orphanet_517954
ClinVar:CFAP69 1 http://www.orpha.net/ORDO/Orphanet_518652
ClinVar:PDE1C 1 http://www.orpha.net/ORDO/Orphanet_520606
ClinVar:AHR 1 http://www.orpha.net/ORDO/Orphanet_520611
ClinVar:TRIM28 1 http://www.orpha.net/ORDO/Orphanet_520627
ClinVar:PPCS 1 http://www.orpha.net/ORDO/Orphanet_520636
ClinVar:EXOSC9 1 http://www.orpha.net/ORDO/Orphanet_520932
ClinVar:TOP3A 1 http://www.orpha.net/ORDO/Orphanet_521784
ClinVar:KNSTRN 1 http://www.orpha.net/ORDO/Orphanet_521825
ClinVar:RASGRP1 1 http://www.orpha.net/ORDO/Orphanet_521884
ClinVar:ARL6IP6 1 http://www.orpha.net/ORDO/Orphanet_524190
ClinVar:RBSN 1 http://www.orpha.net/ORDO/Orphanet_525273
ClinVar:GAPVD1 1 http://www.orpha.net/ORDO/Orphanet_525290
ClinVar:ANKFY1 1 http://www.orpha.net/ORDO/Orphanet_525296
ClinVar:MAP1B 1 http://www.orpha.net/ORDO/Orphanet_525404
ClinVar:PLVAP 1 http://www.orpha.net/ORDO/Orphanet_525463
ClinVar:IDH3A 1 http://www.orpha.net/ORDO/Orphanet_525941

rdo: RGD Disease Ontology

Identifiers for this prefix are given incorrectly in rdo.

external_xref usages_count usages
ClinVar:VCV000983267 1 DOID:9000729
ClinVar:VCV001077148.1 1 DOID:9000895