Table 2S Pathophysiology Annotations for Human Disease Genes
Table 2S Pathophysiology annotations for human disease genes.
GeneName / SystemI/SystemII / Accession NumberA2M / neurological/pulmonary / M11313
AAAS / neurological/endocrine / AJ289841
ABAT / neurological / U80226
ABCA1 / cardiovascular/metabolic / AF165281
ABCA4 / neurological / U88667
ABCB1 / IDE / AF016535
ABCB11 / hepatic_GI_pancreatic / AF091582
ABCB4 / hepatic_GI_pancreatic / M23234
ABCB7 / neurological/hematological / AB005289
ABCC2 / metabolic / U63970
ABCC6 / bone_connectivetissue/cardiovascular / AF076622
ABCC8 / endocrine/metabolic / U63421
ABCD1 / neurological/endocrine / NM_000033
ABCD3 / neurological/metabolic / M81182
ABCG5 / bone_connectivetissue/cardiovascular / AF312715
ABCG8 / bone_connectivetissue/cardiovascular / AF320294
ABO / hematological / NM_020469
ACADM / metabolic / M16827
ACADS / metabolic / M26393
ACADSB / metabolic / U12778
ACADVL / metabolic / D43682
ACAT1 / metabolic / D90228
ACHE / neurological/hematological / M55040
ACTA1 / muscle/metabolic / M20543
ACTC / cardiovascular/muscle / NM_005159
ACTN3 / muscle / M86407
ACTN4 / renal / NM_004924
ACVR2B / IDE / X77533
ACVRL1 / cardiovascular/malformationsyndrome / Z22533
ADA / immune/metabolic / M11313
ADAMTS13 / hematological / NM_139025
ADAMTS2 / bone_connectivetissue / AJ003125
ADD1 / renal/cardiovascular / NM_014190
ADRB1 / neurological/cardiovascular / J03019
ADRB2 / pulmonary/endocrine / M15169
ADRB3 / neurological/metabolic / X72861
ADSL / metabolic/neurological / X65867
AGA / metabolic / X55762
AGER / IDE / NM_001136
AGL / metabolic / U84007
AGPAT2 / metabolic/endocrine / NM_006412
AGPS / metabolic / Y09443
AGT / cardiovascular / K02215
AGTR2 / neurological/malformationsyndrome / NM_000686
AGXT / renal / X53414
AICDA / immune / AB040431
AIPL1 / neurological / AF180472
AIRE / immune / Z97990
AK1 / hematological / J04809
ALAD / metabolic / M13928
ALAS2 / hematological / X56352
ALB / endocrine / M12523
ALDH3A2 / skin/neurological / L47162
ALDH4A1 / neurological / U24266
ALDH5A1 / cancer / Y11192
ALDH6A1 / IDE / AF159889
ALDOA / metabolic / M11560
ALDOB / metabolic / X56352
ALG12 / metabolic / NM_024105
ALG6 / metabolic / AF102851
ALMS1 / other / NM_015120
ALOX12B / skin / NM_001139
ALOXE3 / skin / NM_021628
ALPL / renal/bone_connectivetissue / X14420
ALX4 / bone_connectivetissue / AF294629
AMACR / metabolic/neurological / AF158378
AMELX / bone_connectivetissue / M86932
AMH / endocrine / K03474
AMHR2 / endocrine / X89013
AMPD1 / metabolic / M60092
AMPD3 / metabolic /muscle / M92432
AMT / metabolic/neurological / D14681
ANK1 / hematological / M28880
ANKH / bone_connectivetissue/metabolic / NM_019847
AP3B1 / skin/hematological / U91931
APC / cancer / M74088
APM1 / IDE / D45371
APOA1 / other/skin / M74088
APOA2 / IDE / X02619
APOA4 / metabolic/cardiovascular / J42758
APOB / cardiovascular/metabolic / X04506
APOC2 / IDE / M10612
APOC3 / IDE / M28613
APOE / neurological/metabolic / K00396
APOH / IDE / X58100
APP / neurological /cardiovascular / M34862
APRT / metabolic/renal / M16446
AQP1 / renal/hematological / U41517
AQP2 / renal / Z29491
AR / endocrine / M20132
ARG1 / metabolic/neurological / M16446
ARH / cardiovascular/metabolic / NM_015627
ARIX / muscle / NM_005169
ARS(B) / skin / X99977
ARSA / metabolic / M16446
ARSB / metabolic / M16446
ARSE / malformationsyndrome/bone_connectivetissue / X83573
ARX / neurological/malformationsyndrome / NM_139058
ASAH / metabolic/neurological / U70063
ASL / metabolic / J03058
ASPA / metabolic / S67156
ASS / metabolic/neurological / X01630
ATM / cancer/immune / U22398
ATP2A1 / muscle / U96781
ATP2A2 / skin / M23115
ATP2A3 / IDE / Z69881
ATP2C1 / skin/immune / AF181120
ATP6B1 / renal/neurological / M25809
ATP6N1B / renal / AF245517
ATP7A / metabolic/bone_connectivetissue / L06133
ATP7B / metabolic / U11700
ATP8B1 / hepatic_GI_pancreatic / AF038007
ATRX / neurological/hematological / U75653
AUH / metabolic/neurological / NM_001698
AVP / endocrine / M11166
AVPR2 / renal / U04357
B4GALT7 / metabolic/bone_connectivetissue / AB028600
BACH1 / cancer / AF360549
BARD1 / IDE / U76638
BBS1 / neurological/malformationsyndrome / AF503941
BBS2 / neurological/malformationsyndrome / AF342736
BBS4 / neurological/malformationsyndrome / AF359281
BCHE / IDE / M16541
BCKDHA / metabolic / Z14093
BCKDHB / metabolic / M55575
BCL2 / cancer/immune / M13995
BCS1L / metabolic/other / AF346835
BDNF / neurological / X91251
BFSP2 / nonneuraleye / NM_003571
BLM / cancer / V39817
BLMH / IDE / X92106
BMPR1A / hepatic_GI_pancreatic/cancer / Z22535
BMPR2 / pulmonary / Z48923
BPGM / hematological/metabolic / X04327
BRCA1 / cancer / U14680
BRCA2 / cancer/hematological / U43746
BSCL2 / endocrine/metabolic / NM_032667
BSND / neurological/renal / NM_057176
BTD / metabolic / U63274
BTK / immune / X58957
C10ORF2 / IDE / AF292005
C1QB / immune / X03084
C1QG / immune
C1S / immune / J04080
C2 / immune / X04481
C3 / immune / K02765
C5 / immune / M57729
C7 / immune / J03507
C8A / immune / M16974
C8B / immune / M16973
C9 / immune / X02176
CA2 / bone_connectivetissue/neurological / Y00339
CACNA1A / neurological / X99897
CACNA1F / neurological / AJ224874
CACNA1S / neurological / L33798
CACNB4 / neurological / U95020
CALCR / bone_connectivetissue / L00587
CAPN3 / muscle / X85030
CARD15 / immune/hepatic_GI_pancreatic / AF178930
CART / endocrine/metabolic / U16826
CASP10 / immune/cancer / U60519
CASQ2 / cardiovascular/muscle / NM_001232
CASR / metabolic/endocrine / S83176
CAV3 / muscle/neurological / AF043101
CBS / metabolic/cardiovascular / X85030
CCKBR / other / L04473
CCM1 / malformationsyndrome/cardiovascular / U90268
CCR2 / immune / U03905
CCR5 / immune / U54994
CD109 / hematological / AF410459
CD36 / hematological / L06850
CD38 / endocrine/immune / M34461
CD3E / immune / X03884
CD3G / immune / X04145
CD8A / immune / M12828
CDH1 / cancer / Z13009
CDH23 / neurological / AF312024
CDH3 / neurological/skin / NM_001793
CDK4 / cancer / U37022
CDKN1A / cancer / U03106
CDKN1B / cancer / NM_004064
CDKN1C / cancer/malformationsyndrome / U22398
CDKN2A / cancer / M18185
CETP / IDE / M30185
CFC1 / IDE / AF312769
CFTR / pulmonary/hepatic_GI_pancreatic / M12828
CGB / other / J00117
CHAC / neurological/hematological / AF337532
CHAT / neurological/muscle / NM_020549
CHEK2 / cancer / AF086904
CHM / neurological / X78121
CHRNA1 / neurological/muscle / Y00762
CHRNB1 / neurological/muscle / X14830
CHRNB2 / neurological / AF077186
CHRND / neurological/muscle / X55019
CHRNE / neurological/muscle / X66403
CHS1 / immune/neurological / U67615
CHST6 / nonneuraleye / AF219990
CIAS1 / immune/bone_connectivetissue / NM_004895
CIRH1A / hepatic_GI_pancreatic / NM_032830
CKM / muscle / NM_001824
CKN1 / malformationsyndrome/other / U28413
CLCN1 / neurological/muscle / Z25884
CLCN5 / renal / X91906
CLCN7 / bone_connectivetissue/neurological / AF224741
CLCNKB / renal/neurological / Z30644
CLDN14 / neurological / AF314090
CLDN16 / renal / AF152101
CLN2 / neurological / AF017456
CLN3 / neurological/cancer / U32680
CLN5 / neurological / AF068227
CLN6 / neurological / NM_017882
CLN8 / neurological / AF123760
CNGA1 / neurological / M84741
CNGA3 / neurological / AF065314
CNGB1 / neurological / U58837.1
CNGB3 / neurological / AF272900
COCH / neurological / AF006740
COL10A1 / bone_connectivetissue / X60382
COL11A1 / malformationsyndrome / AH008338
COL17A1 / skin / U76564
COL18A1 / malformationsyndrome / AF018082
COL1A1 / malformationsyndrome/bone_connectivetissue / Z74615
COL1A2 / bone_connectivetissue/malformationsyndrome / Z74616
COL2A1 / malformationsyndrome/bone_connectivetissue / L10347
COL3A1 / cardiovascular/bone_connectivetissue / X14420
COL4A3 / renal / X80031
COL4A4 / renal / X81053
COL4A5 / renal / U04520
COL5A1 / bone_connectivetissue/cardiovascular / D90279
COL5A2 / bone_connectivetissue/cardiovascular / Y14690
COL6A3 / muscle / X52022
COL7A1 / skin / L02870
COL9A3 / bone_connectivetissue / L41162
COLQ / neurological/muscle / AF057036
COMP / bone_connectivetissue / L32137
COMT / neurological / M65212
COX10 / metabolic / NM_001303
CP / metabolic/neurological / M13699
CPB2 / cardiovascular / NM_001872
CPE / metabolic / NM_001873
CPO / metabolic / Z34531
CPS1 / metabolic / D90282
CPT1A / metabolic / L39211
CPT2 / metabolic / U09648
CRB1 / neurological / AF154671
CREBBP / malformationsyndrome / U85962
CRX / neurological / AF024711
CRYAA / nonneuraleye / U66584
CRYAB / muscle/nonneuraleye / M28638
CRYBB1 / nonneuraleye / NM_001887
CRYBB2 / nonneuraleye / U72400
CRYGC / nonneuraleye / U66582
CRYGD / nonneuraleye / U66583
CSF1R / cancer / U63963
CSF2RB / pulmonary / M59941
CSF3R / hematological / M59818
CSRP3 / cardiovascular/muscle / NM_003476
CST3 / cardiovascular / X05607
CSTB / neurological / U46692
CSX / cardiovascular / U34962
CTF1 / cardiovascular/muscle / NM_001330
CTLA4 / endocrine/immune / L15006
CTNS / renal / AJ222967
CTSC / bone_connectivetissue/skin / X87212
CTSD / neurological / X05344
CTSK / bone_connectivetissue/malformationsyndrome / S79895
CUBN / hematological / AF034611
CX3CR1 / cardiovascular / U28934
CYBA / immune/cardiovascular / AF017456
CYBB / immune / X04011
CYLD / cancer / AJ250014
CYP11A / endocrine / NM_000781
CYP11B1 / endocrine / M32863
CYP11B2 / metabolic/endocrine / D13752
CYP17 / metabolic/endocrine / NM_000781
CYP19 / cancer / J04127
CYP1A1 / cancer / X04300
CYP1B1 / cancer/nonneuraleye / U03688
CYP21A2 / endocrine / M26856
CYP27A1 / neurological / M62401
CYP27B1 / metabolic / AF020192
CYP2A6 / metabolic / M33318
CYP2C19 / metabolic / M61854
CYP2C8 / metabolic / NM_000770
CYP2C9 / metabolic / NM_000771
CYP2D6 / metabolic/neurological / M20403
CYP2J2 / metabolic / U37143
CYP3A4 / hepatic_GI_pancreatic / NM_017460
CYP7B1 / metabolic/hepatic_GI_pancreatic / AF029403
DAF / hematological / M30142
DBH / neurological / NM_000787
DBT / metabolic / X66785
DCLRE1C / immune / AJ296101
DCX / neurological / AJ003112
DDB2 / cancer/skin / U18300
DEFB1 / cardiovascular / NM_005218
DES / cardiovascular/muscle / U59167
DHCR24 / metabolic/malformationsyndrome / NM_014762
DHCR7 / malformationsyndrome / AF034544
DHH / malformationsyndrome / NM_021044
DIA1 / metabolic / Y09501
DIO2 / metabolic/endocrine / U53506
DJ1 / neurological / NM_007262
DKC1 / skin/other / AJ224481
DLD / metabolic / J03490
DLL3 / bone_connectivetissue / AF241373
DMD / cardiovascular/muscle / J03934
DMGDH / metabolic / AF111858
DMRT1 / malformationsyndrome / AF130728
DNAH11 / pulmonary/malformationsyndrome / NM_003777
DNAH5 / pulmonary/malformationsyndrome / NM_001369
DNAI1 / pulmonary/malformationsyndrome / NM_012144
DNASE1 / immune / D83195
DNMT3B / other / AF156488
DO / hematological / AF290204
DPM1 / metabolic / D86198
DPYD / metabolic/neurological / U09178
DPYS / metabolic/neurological / D78011
DRD2 / neurological / M29066
DSP / cardiovascular/skin / M77830
DSPP / bone_connectivetissue / NM_014208
DTNA / cardiovascular / NM_032978
DUOX2 / endocrine / NM_014080
DYSF / muscle/neurological / AF075575
EBAF / malformationsyndrome / NM_020997
EBP / malformationsyndrome/bone_connectivetissue / Z37986
ECE1 / neurological/hepatic_GI_pancreatic / D43698
ECGF1 / neurological / M63193
ECM1 / skin / NM_004425
ED1 / malformationsyndrome / AF060999
EDAR / malformationsyndrome / AF130988
EDARADD / malformationsyndrome / NM_080738
EDN1 / cardiovascular / NM_001955
EDN3 / neurological/hepatic_GI_pancreatic / JOURNAL
EDNRB / neurological/hepatic_GI_pancreatic / X69962
EFEMP1 / neurological / U03877
EGR2 / neurological / J04076
EIF2AK3 / endocrine/bone_connectivetissue / AF110146
EIF2B1 / neurological / NM_001414
EIF2B2 / neurological / NM_014239
EIF2B3 / neurological / NM_020365
EIF2B4 / neurological / NM_015636
EIF2B5 / neurological / XM_029136
ELA2 / hematological / M34379
ELAC2 / cancer / AF304370
ELK1 / neurological / M25269
ELN / renal / U93034
EMD / neurological/muscle / X82434
ENAM / bone_connectivetissue / NM_031889
ENG / hematological / AF036969
ENO3 / metabolic / NM_053013
ENPP1 / endocrine/bone_connectivetissue / M57736
EPB41 / hematological / M14993
EPB42 / hematological / M60298
EPHX1 / metabolic/cancer / J03518
EPM2A / neurological / AF284580
EPOR / hematological / M60459
EPX / hematological / M29904
ERBB2 / cancer / M11730
ERCC2 / skin / X52221
ERCC3 / skin / M31899
ERCC4 / skin / U64315
ERCC5 / skin / X69978
ERCC6 / malformationsyndrome / L04791
ESR1 / endocrine / M12674
ESR2 / endocrine / AF051427
ETFA / metabolic / J04058
ETFB / metabolic / X71129
ETFDH / metabolic / S69232
EVC / bone_connectivetissue/malformationsyndrome / AF216184
EVER1 / skin / AY099356
EVER2 / skin / AY099358
EXO1 / cancer / NM_006027
EXT1 / cancer / S79639
EXT2 / cancer / U64511
EYA1 / pulmonary/nonneuraleye / Y10260
EYA4 / neurological / Y17114
F10 / hematological / L00390
F11 / hematological / L00390
F12 / hematological / M17464
F13A1 / hematological / M11730
F13B / hematological / M64554
F2 / hematological / M17262
F5 / hematological / M14335
F7 / hematological / M14335
F8 / hematological / J04058
F9 / hematological / M14335
FABP2 / metabolic/endocrine / M18079
FACL4 / metabolic/neurological / NM_004458
FAH / metabolic/cancer / M14335
FANCA / hematological / X99226
FANCC / hematological / X66894
FANCD2 / hematological / NM_033084
FANCE / hematological / AF265210
FANCF / hematological / AF181994
FANCG / hematological / U70310
FBLN5 / bone_connectivetissue/cardiovascular / NM_006329
FBN1 / bone_connectivetissue/malformationsyndrome / X53414
FBN2 / malformationsyndrome / U03272
FBP1 / metabolic / U21925
FCGR1A / immune / AH001432
FCGR3A / immune / J04162
FCMD / neurological/muscle / AB008226
FECH / metabolic/hematological / D00726
FGA / hematological/renal / M64982
FGB / hematological / NM_005141
FGD1 / malformationsyndrome/neurological / U11690
FGF14 / neurological / NM_004115
FGF23 / metabolic/renal / AF263537
FGFR1 / malformationsyndrome / X51803
FGFR2 / malformationsyndrome / M87770
FGFR3 / malformationsyndrome/bone_connectivetissue / D38081
FGG / hematological / X02415
FH / metabolic/cancer / M15502
FKRP / neurological/muscle / NM_024301
FLNA / neurological/malformationsyndrome / NM_001456
FLT4 / other/immune / X69878
FMO3 / metabolic / U39960
FMR1 / neurological / X69962
FOLH1 / metabolic / AF176574
FOXC1 / nonneuraleye / AF048693
FOXC2 / other/immune / Y08223
FOXE1 / endocrine / U89995
FOXL2 / malformationsyndrome / AF301906
FOXP2 / neurological / NM_014491
FRDA / neurological / U43747
FSHB / endocrine / M16646
FSHR / endocrine / M65085
FUCA1 / metabolic / M80809
FUCT1 / metabolic / AF326199
FUT1 / hematological / M35531
FUT2 / hematological / D82933
FUT3 / hematological / U27326
FUT6 / metabolic / L01698
FXYD2 / renal / NM_001680
FY / hematological / U01839
G6PC / metabolic / S67156
G6PD / hematological / D82933
G6PT1 / metabolic / Y15409
GAA / metabolic / Y00839
GABRA1 / neurological / NM_000806
GABRG2 / neurological / X15376
GALC / neurological / NM_000806
GALE / metabolic / L41668
GALK1 / metabolic / U26401
GALNS / metabolic/metabolic / D17616
GALT / metabolic / M96264
GAN / neurological / AF291673
GATA1 / hematological / NM_002049
GATA3 / other/neurological / X55121
GATM / metabolic/neurological / NM_001482
GBA / metabolic / U26401
GBE1 / neurological/metabolic / L07956
GCDH / metabolic/neurological
GCGR / endocrine/metabolic / L20316
GCH1 / neurological/metabolic / U19523
GCK / endocrine/metabolic / M90299
GCLC / hematological/metabolic / M90656
GCNT2 / hematological / NM_001491
GCS1 / metabolic / X87237
GDAP1 / neurological / Y17849
GDF5 / bone_connectivetissue / X80915
GDI1 / neurological / X79353
GDNF / neurological / L19062
GFAP / neurological / J04569
GGCX / hematological / M81592
GH1 / endocrine / J00148
GHR / endocrine / X06562
GHRHR / endocrine / L01406
GHRL / endocrine / AB029434
GIPR / endocrine/metabolic / M18185
GJA1 / neurological/cardiovascular / M65188
GJA3 / nonneuraleye/cardiovascular / AF075290
GJA4 / cardiovascular / M96789
GJA8 / nonneuraleye / U34802
GJB1 / neurological / AF075290
GJB2 / neurological/skin / M86849
GJB3 / neurological/skin / AF052692
GJB4 / skin/immune / AL121988
GJB6 / neurological/skin / NM_006783
GK / metabolic / L13943
GLA / metabolic / X14448
GLB1 / neurological/metabolic / M22590
GLDC / metabolic / M64590
GLI3 / malformationsyndrome / M57609
GLMN / other / AJ302735
GLRA1 / neurological / X52009
GLUD1 / metabolic/endocrine / M37154
GM2A / neurological / L01439
GNAS / endocrine/other / M21139
GNAT1 / neurological / X15088
GNAT2 / neurological / NM_005272
GNE / muscle/metabolic / AF051852
GNMT / metabolic / NM_018960
GNPAT / metabolic/bone_connectivetissue / AF043937
GNRHR / endocrine / L03380
GP1BA / hematological / X52009
GP1BB / hematological / J03259
GP6 / cardiovascular / AB043821
GP9 / hematological / M80478
GPC3 / malformationsyndrome / L47125
GPD2 / endocrine / U12424
GPI / hematological / K03515
GRB10 / malformationsyndrome / AF001534
GREAT / endocrine / AF453828
GRHPR / metabolic / AF146018
GRIN2B / neurological / U88963
GSN / nonneuraleye/other / X04412
GSS / metabolic / U34683
GSTP1 / cancer / X06547
GUCA1A / neurological / L36859
GUCY2D / neurological / M92432
GUSB / malformationsyndrome/metabolic / X06547
GYPA / hematological / X51798
GYPC / hematological / M36284
GYS2 / metabolic / AJ003087
HADHA / metabolic / D16480
HADHB / metabolic / D16431
HADHSC / metabolic/endocrine / NM_005327
HAMP / hematological / NM_021175
HBA1 / hematological / J00153
HBA2 / hematological / J00153
HBB / hematological / J00153
HBD / hematological / U01317
HBG1 / hematological / U01317
HBG2 / hematological / U01317
HCRT / neurological / XM_032861
HESX1 / malformationsyndrome / AF059734
HEXA / neurological/metabolic / M16411
HEXB / neurological/metabolic / M23282
HF1 / hematological / Y00716
HFE / hematological / U60319
HGD / metabolic / U63008
HK1 / hematological / M75126
HK2 / endocrine/metabolic / Z46376
HLA-B / immune / NM_005514
HLA-DRB1 / neurological / M20503
HLCS / metabolic / D23672
HLXB9 / malformationsyndrome / U07664
HMBS / metabolic / X04808
HMGCL / metabolic / L07033
HMGCS2 / metabolic / X83618
HNF3B / endocrine/metabolic / AB028021
HNF4A / endocrine / X76930
HNMT / immune / NM_006895
HOXA13 / malformationsyndrome / U82827
HOXD13 / malformationsyndrome / JOURNAL
HPD / metabolic / X72389
HPRT1 / metabolic / U60319
HPS / metabolic / U65676
HR / skin / AF039196
HRG / hematological / M13149
HRPT2 / endocrine / AF312865
HSD11B2 / endocrine / V14631
HSD17B3 / endocrine/metabolic / D16431
HSD17B4 / endocrine/metabolic / X87176
HSD3B2 / endocrine/metabolic / M67466
HSF4 / nonneuraleye / D87673
HSPG2 / malformationsyndrome / M85289
HTN3 / metabolic / M26665
HTR1A / neurological / M28269
HTR1B / neurological / NM_000863
HTR2A / neurological / X57830
HTR2C / neurological / U49516
HTR3A / neurological / D49394
HTR5A / neurological / NM_024012
HYAL1 / metabolic/metabolic / U96078
IAPP / endocrine/metabolic / J04422
ICAM1 / immune / X06990
IDS / malformationsyndrome / M58342
IDUA / metabolic / M74715
IF / immune / J02770
IFNGR1 / immune / J03143
IFNGR2 / immune / U05875
IGHM / immune / X17115
IGHMBP2 / neurological / L14754
IKBKAP / neurological / AF044195
IKBKG / skin/immune / AF074382
IL12RB1 / immune / NM_005535
IL12RB2 / immune / U64198
IL13 / immune/pulmonary / NM_002188
IL1RAPL1 / neurological / NM_014271
IL2RG / immune / D11086
IL4R / immune/pulmonary / X52425
IL7R / immune / NM_002185
INS / endocrine/metabolic / J00265
INSR / endocrine/metabolic / J00265
IPEX / immune/hematological / AF277993
IPF1 / endocrine / U35632
IRS1 / endocrine/metabolic / S62539
IRS2 / endocrine/metabolic / AB000732
ISL1 / endocrine/metabolic / S70721
ITGA2 / cardiovascular / X17033
ITGA2B / hematological / J02764
ITGA6 / skin / X53586
ITGB2 / immune / M15395
ITGB3 / hematological / J02764
ITGB4 / skin / X51841
ITM2B / neurological / NM_021999
IVD / metabolic/neurological / M34192
JAG1 / malformationsyndrome / U73936
JAK3 / immune / U09607
K6HF / skin / NM_004693
KAL1 / malformationsyndrome / M97252
KCNA1 / neurological / L02750
KCNE1 / cardiovascular / L33815
KCNE2 / cardiovascular / NM_005136
KCNE3 / neurological / AF076531
KCNH2 / cardiovascular / U04270
KCNJ1 / renal / U12541
KCNJ11 / endocrine/metabolic / D50582
KCNJ2 / cardiovascular / NM_000891
KCNJ9 / endocrine/metabolic / U52152
KCNQ1 / cardiovascular / U86146
KCNQ2 / neurological / Y15065
KCNQ3 / neurological / AF071491
KCNQ4 / neurological / AF105202
KEL / hematological / M64934
KERA / nonneuraleye / AF205403
KHK / metabolic / X78678
KIF1B / neurological / AF257176
KIF5A / neurological / NM_004984
KIT / other / X06182
KL / other / AB005142
KLK1 / cardiovascular / NM_002257
KNG / hematological / K02566
KRT1 / skin / M98776
KRT10 / skin
KRT12 / nonneuraleye / D78367
KRT13 / skin / AF049259
KRT14 / skin
KRT17 / skin
KRT18 / hepatic_GI_pancreatic / M24842
KRT2A / skin
KRT3 / nonneuraleye / NM_057088
KRT5 / skin
KRT6A / skin / L42583
KRT6B / skin / L42592
KRT8 / hepatic_GI_pancreatic / X74929
KRT9 / skin
KRTHB1 / skin / Y13621
KRTHB6 / skin / AJ000263
L1CAM / neurological / M77640
LAMA2 / muscle / Z26653
LAMA3 / skin / L34153
LAMB3 / skin / U17745
LAMC2 / skin / U31178
LCAT / metabolic / M34192
LDHA / metabolic / X02152
LDHB / metabolic / Y00711
LDLR / cardiovascular/metabolic
LEP / endocrine / U43653
LEPR / endocrine / U43168
LGI1 / neurological / AF055636
LHB / endocrine / X00264
LHCGR / endocrine/metabolic / X84753
LHX3 / endocrine / AF156889
LIG1 / immune / M36067
LIG4 / metabolic/cancer / NM_002312
LIM2 / nonneuraleye / AF340020
LIPA / metabolic/hepatic_GI_pancreatic / M74775
LIPC / metabolic/cardiovascular / J03895
LMAN1 / hematological / U09716
LMNA / cardiovascular/muscle / M13451
LMX1B / malformationsyndrome / AF057135
LPA / cardiovascular / J03143
LPL / metabolic/cardiovascular / J03143
LRAT / nonneuraleye / AF071510
LRP5 / bone_connectivetissue / NM_002335
LTBP2 / IDE / Z37976
LYZ / other / M19045
MADH4 / cancer / U44378
MAF / nonneuraleye / NM_005360
MAN2B1 / metabolic / U60266
MAOA / metabolic / M69226
MAPK8IP1 / endocrine/metabolic / AF074091
MAPT / neurological / AF047863
MASS1 / IDE / NM_032119
MAT1A / metabolic / X69078
MATN3 / bone_connectivetissue / NM_002381
MBL2 / immune / X15954
MC1R / endocrine / X67594
MC2R / endocrine / X65633
MC3R / endocrine / NM_019888
MC4R / endocrine / L08603
MCCC1 / metabolic / NM_020166
MCCC2 / metabolic / NM_022132
MCOLN1 / neurological / AF249319
MECP2 / neurological / AF158180
MEFV / other / AF018080
MEN1 / cancer/endocrine / U93236
MERTK / neurological / U08023
MET / cancer / J02958
MGAT2 / metabolic/neurological / U15128
MGP / malformationsyndrome / M58549
MHC2TA / immune / X74301
MID1 / malformationsyndrome / Y13667
MINPP1 / endocrine/cancer / NM_004897
MIP / nonneuraleye / U36308
MITF / nonneuraleye/malformationsyndrome / Z29678
MKKS / malformationsyndrome / AF221993
MLC1 / neurological / AF319633
MLH1 / cancer / AF028706
MLH3 / cancer / AB039667
MLYCD / metabolic / NM_0122131
MMP2 / bone_connectivetissue / M58552
MNGIE / neurological / M63193
MOCS1 / metabolic / AJ224328
MOCS1B / metabolic / AJ224328
MOCS2 / metabolic / AF091871
MOCS2B / metabolic / AF091871
MPDU1 / metabolic / AF038961
MPI / metabolic/neurological / X76057
MPL / hematological / NM_005373
MPO / immune / J02694
MPZ / neurological / AF018080
MRE11A / neurological / AF073362
MS4A1 / immune/pulmonary / M89796
MS4A2 / immune / NM_000139
MSH2 / cancer / U04045
MSH3 / cancer / J04810
MSH6 / cancer / U28946
MSX1 / malformationsyndrome / M97676
MSX2 / malformationsyndrome / X69295
MTHFD1 / neurological / J04031
MTHFR / metabolic / U09806
MTM1 / metabolic / U46024
MTMR2 / neurological / AB028996
MTP / metabolic / X59657
MTR / metabolic/cardiovascular / U71285
MTRR / metabolic/cardiovascular / AF025794
MUT / metabolic / M65131
MUTYH / cancer / U63329
MVK / metabolic / M88468
MYBPC3 / cardiovascular/muscle / X84075
MYC / cancer / V00568
MYF6 / muscle/neurological / X52011
MYH2 / muscle / AF111784
MYH6 / cardiovascular/muscle / XM_033377
MYH7 / cardiovascular/muscle / XM_033377
MYH9 / hematological/neurological / Z82215
MYL2 / cardiovascular/muscle / X66141
MYL3 / cardiovascular/muscle / M24122
MYLK2 / cardiovascular/muscle / AF325549
MYO15A / neurological / NM_016239
MYO5A / neurological/neurological / Y07759
MYO6 / neurological / U90236
MYO7A / neurological / U39226
MYOC / nonneuraleye/nonneuraleye / AF001620
NAGA / neurological / M62783
NAGLU / neurological / V43573
NAT1 / other / AF071552
NAT2 / other / D90040
NBS1 / neurological/other / AF051334
NCF1 / immune / M25665
NCF2 / immune / M32011
NDP / neurological/nonneuraleye / X65882
NDRG1 / neurological / D87953
NDUFS1 / metabolic / X61100
NDUFS2 / metabolic / AF050640
NDUFS4 / metabolic / AF020351
NDUFS7 / metabolic/neurological / NM_024407
NDUFS8 / metabolic / U65579
NDUFV1 / metabolic/neurological / AF053070
NDUFV2 / neurological / M22538
NEB / muscle / X83957
NEF3 / neurological / NM_005382
NEFL / neurological / NM_006158
NEU1 / neurological
NEUROD1 / endocrine/metabolic / AF045152
NF1 / cancer
NF2 / cancer / L11353
NME1 / cancer / X75598
NOG / malformationsyndrome / U31202
NOS3 / cardiovascular / M95296
NOT56L / metabolic / Y09022
NOTCH3 / neurological / U97669
NP / metabolic/immune / K02574
NPC1 / metabolic/neurological / AF002020
NPC2 / metabolic/neurological / X67698
NPHP1 / renal / AJ001815
NPHP4 / renal / AY118228
NPHS1 / renal / AF035835
NPHS2 / renal / AJ279254
NPY / endocrine / M15789
NQO1 / metabolic / J03934
NR0B1 / endocrine / U31929
NR0B2 / endocrine / NM_021969
NR2E3 / neurological / AF121129
NR3C1 / endocrine / M10901
NR3C2 / renal/endocrine / M16801
NR4A2 / neurological / X75918
NR5A1 / endocrine / D88155
NRL / neurological / M81840
NRTN / neurological/hepatic_GI_pancreatic / U78110
NSD1 / malformationsyndrome/neurological / NM_022455
NSDHL / malformationsyndrome/metabolic / U82671
NT5C3 / hematological / AF312735
NTRK1 / neurological / Y09028
NYX / neurological / AF254868
OA1 / nonneuraleye / Z48804
OAT / nonneuraleye / K02574
OCA2 / nonneuraleye/skin / M99564
OCRL / metabolic / U57627
OFD1 / malformationsyndrome / NM_003611
OGG1 / cancer / U96710
OPA1 / nonneuraleye / AB011139
OPN1LW / neurological / M13305
OPN1MW / neurological / M13306
OPRM1 / neurological / L25119
OPTN / nonneuraleye / NM_021980
ORF15 / neurological / AF286472
OTC / metabolic / U57627
OTOF / neurological / AF107403
OTOR / IDE / AF233261
OXCT / metabolic / U62961
P2RX7 / other / NM_002562
PAFAH1B1 / neurological/malformationsyndrome / U72333
PAH / metabolic / U49897
PAK3 / neurological / AF068864
PANK2 / neurological / AF494409
PAPSS2 / bone_connectivetissue / AF091242
PARK2 / neurological / AB009973
PAX2 / renal/nonneuraleye / M89470
PAX3 / malformationsyndrome / U12263
PAX4 / endocrine/metabolic / NM_006193
PAX6 / nonneuraleye / M93650
PAX8 / endocrine / L19606
PAX9 / malformationsyndrome / AJ238381
PC / metabolic / U04641
PCBD / metabolic / L41559
PCCA / metabolic / X14608
PCCB / metabolic / X73424
PCDH15 / neurological / AY029237
PCSK1 / endocrine / M90753
PDE6A / neurological / M26061
PDE6B / neurological / X66142
PDHA1 / metabolic / X51798
PECAM1 / immune / M28526
PENK / IDE / NM_006211
PEPD / metabolic / J04605
PER2 / other / NM_022817
PEX1 / metabolic/malformationsyndrome / AF026086
PEX10 / metabolic / AF060502
PEX12 / metabolic / U91521
PEX13 / metabolic/neurological / U71374
PEX16 / metabolic/neurological / AF118240
PEX6 / metabolic/neurological / D83703
PEX7 / malformationsyndrome/bone_connectivetissue / U76560
PFC / immune / X57748
PFKM / metabolic / Y00698
PGAM2 / metabolic / M18172
PGK1 / metabolic / V00572
PGR / endocrine / NM_000926
PHEX / renal / AD000712
PHGDH / metabolic / AF006043
PHKA1 / metabolic / X73874
PHKA2 / metabolic / D38616
PHKB / metabolic / X84908
PHKG2 / metabolic / M31606
PHYH / metabolic / AF023462
PIK3R1 / IDE / XM_043865
PITX2 / malformationsyndrome / U69961
PITX3 / nonneuraleye / AF041339
PKD1 / renal / L33243
PKD2 / renal / U50928
PKHD1 / renal / NM_138694
PKLR / hematological / NM_000298
PKP1 / malformationsyndrome / Z73678
PLA2G7 / hematological / U20157
PLCD1 / IDE / U09117
PLEC1 / muscle/skin / U53204
PLG / hematological / X05199
PLOD / bone_connectivetissue / L06419
PLP1 / neurological / M20786
PMM2 / metabolic / U85773
PMP22 / neurological / D11428
PMS1 / cancer / U13695
PMS2 / cancer / U13696
POLG / muscle / X98093
POLH / skin / AF158185
POMC / endocrine / V01510
POMGNT1 / neurological / AB057356
POMT1 / neurological / AF095136
PON1 / cardiovascular / M63012
PON2 / cardiovascular / AF001601
POU1F1 / endocrine / X69962
POU3F4 / neurological / X82324
PPARA / endocrine/metabolic / L02932
PPARG / endocrine/metabolic / U79012
PPARGC1 / endocrine / AF106698
PPGB / metabolic
PPOX / metabolic / D38537
PPP1R3A / endocrine/metabolic / AF024576
PPT1 / neurological / U44772
PRF1 / hematological / M28393
PRG4 / immune/bone_connectivetissue / U70136
PRKAR1A / endocrine / M33336
PRKCG / neurological / NM_002739
PRKWNK4 / renal / AF390018
PRNP / neurological / M23234
PROC / hematological / M33336
PRODH / neurological/metabolic / NM_016335
PROP1 / endocrine / AF041139
PROS1 / hematological / M57840
PRPF31 / neurological / NM_015629
PRSS1 / hepatic_GI_pancreatic / M22612
PRSS7 / endocrine / NM_002772
PRX / neurological / AF321191
PSEN1 / neurological / L42110
PSEN2 / neurological / L43964
PSTPIP1 / immune/bone_connectivetissue / NM_003978
PTCH / cancer / U59464
PTEN / cancer / U93051
PTGIS / renal / NM_000961
PTH / endocrine / J00301
PTHR1 / bone_connectivetissue / L04308
PTPN11 / malformationsyndrome / NM_002834
PTS / hematological / D17400
PVRL1 / malformationsyndrome / X76400
PXMP3 / metabolic/neurological / M86852
PXR1 / metabolic/malformationsyndrome / U19721
PYCS / metabolic / X94453
PYGL / metabolic / M14636
PYGM / metabolic / U94777
QDPR / metabolic/neurological / U94777
RAB27A / immune / U38654
RAC2 / immune / M29871
RAD51 / cancer / D13804
RAD54L / cancer / X97795
RAG1 / immune / M29474
RAG2 / immune / M94633
RAPSN / neurological / AF449218
RB1 / cancer / X14420
RBP4 / metabolic / X00129
RDH5 / nonneuraleye/neurological / U43559
RDS / nonneuraleye/neurological / D17400
RECQL4 / skin / AB006532
REN / renal / L00064
RET / neurological/cancer / X15262
RFX5 / immune / X85786
RFXANK / immune / AF094760
RFXAP / immune / Y12812
RGR / neurological / U14910
RHAG / hematological / X64594
RHCE / hematological / AB018645
RHD / hematological / L08429
RHO / neurological / U49742
RHOK / neurological / U63973
RLBP1 / neurological / J04213
RNASEL / cancer / NM_021133
ROM1 / neurological / L07894
ROR2 / malformationsyndrome / NM_004560
RP1 / neurological / AF141021
RP2 / neurological / AJ007590
RPE65 / neurological/nonneuraleye / U18991
RPGR / neurological / U57629
RPGRIP1 / neurological / AJ417067
RPS19 / hematological / M81757
RPS6KA3 / malformationsyndrome/neurological / U08316
RS1 / neurological / AF014459
RUNX1 / hematological / D43969
RUNX2 / malformationsyndrome/neurological / AF001450
RYR1 / neurological / J05200
RYR2 / cardiovascular / X98330
SAA1 / other / M23698
SACS / neurological / AF193556
SAG / neurological/nonneuraleye / U70962
SALL1 / malformationsyndrome / Y18265
SBDS / hepatic_GI_pancreatic/hematological / AY169963
SCN1B / neurological / L16242
SCN2A2 / neurological / NM_021007
SCN4A / neurological / M81758
SCN5A / cardiovascular / M77235
SCNN1A / renal / Z92978
SCNN1B / renal / X87159
SCNN1G / renal / X87160
SCO1 / metabolic/other / AF026852
SCO2 / metabolic/other / AF177385
SDHA / neurological/metabolic / L21936
SDHB / cancer / NM_003000
SDHC / cancer / U57877
SDHD / cancer / AB006202
SEDL / bone_connectivetissue / AF157065
SELE / cardiovascular / M24736
SELP / cardiovascular / M25322
SEPN1 / neurological / AJ306399
SERPINA1 / pulmonary/hepatic_GI_pancreatic / X84908
SERPINA3 / neurological/pulmonary / K01500
SERPINA7 / endocrine / X52520
SERPINC1 / hematological / X01630
SERPIND1 / hematological / M12849
SERPINF2 / hematological / M20786
SERPING1 / pulmonary/hepatic_GI_pancreatic / X04327
SERPINI1 / neurological / Z81326
SFTPB / pulmonary / M24461
SGCA / muscle / M22538
SGCB / muscle / U31116
SGCD / muscle/cardiovascular / X95191
SGCE / neurological / AJ000534
SGCG / muscle / U34976
SGSH / metabolic / U30894
SH2D1A / immune / AL023657
SH3BP2 / malformationsyndrome / U56386
SHH / malformationsyndrome / L38518
SHOX / malformationsyndrome/bone_connectivetissue / Y11536
SI / metabolic / X63597
SIX3 / malformationsyndrome / AF092047
SLC10A2 / hepatic_GI_pancreatic/cancer / U67669
SLC11A3 / hematological / AF215636
SLC12A1 / renal / U58130
SLC12A3 / renal / X91220
SLC12A6 / neurological / AF105366
SLC14A1 / hematological / NM_015865
SLC14A2 / renal / X96969
SLC16A1 / hematological / L31801
SLC17A5 / metabolic / AJ387747
SLC19A1 / metabolic / NM_003056
SLC19A2 / hematological / AF135488
SLC22A5 / metabolic / AB015050
SLC25A13 / metabolic / AF118838
SLC25A15 / metabolic / AF112968
SLC25A19 / malformationsyndrome / NM_021734
SLC25A20 / metabolic / Y10319
SLC25A4 / muscle / J02966
SLC26A2 / bone_connectivetissue / V14528
SLC26A3 / hepatic_GI_pancreatic / L02785
SLC26A4 / neurological/endocrine / AF030880
SLC2A1 / neurological/hematological / K03195
SLC2A2 / endocrine/metabolic / J03810
SLC2A4 / endocrine / M20747
SLC34A1 / renal/bone_connectivetissue / NM_003052
SLC39A4 / metabolic / NM_130849
SLC3A1 / metabolic / M95548
SLC4A1 / hematological/renal / NM_053013
SLC4A4 / renal / AF007216
SLC5A1 / metabolic / M24847
SLC5A5 / endocrine / U66088
SLC6A2 / cardiovascular / NM_001043
SLC6A8 / neurological / L31409
SLC7A7 / renal/hepatic_GI_pancreatic / Y18474
SLC7A9 / renal / AF141289
SLUG / neurological / AF042001
SMARCAL1 / immune/bone_connectivetissue / NM_014140
SMARCB1 / cancer / U04847
SMN1 / neurological / U18423
SMPD1 / metabolic / M81780
SNCA / neurological / L08850
SOD1 / neurological / NM_003000
SOD3 / hematological / U10116
SORBS1 / endocrine / AF136381
SOST / bone_connectivetissue / AF326739
SOX10 / neurological / AJ001183
SOX9 / malformationsyndrome / Z46629
SPG4 / neurological / AJ246001
SPINK1 / hepatic_GI_pancreatic / M22971
SPINK5 / immune/skin / AJ228139
SPR / metabolic / M76231
SPTB / hematological / J05500
SPTLC1 / neurological / AF286717
SQSTM1 / bone_connectivetissue / NM_003900
SRD5A2 / metabolic / J04213
SREBF2 / metabolic / NM_004599
SRY / endocrine / L08063
SSTR5 / endocrine / NM_001053
STAR / endocrine / U17280
STAT1 / immune / M97935
STK11 / cancer / U63333
STS / skin / M22971
SUOX / metabolic / L31573
SURF1 / metabolic / Z35093
TACSTD2 / nonneuraleye/cancer / J04152
TAP1 / immune / L21208
TAT / metabolic / X52520
TAZ / cardiovascular / X92762
TBCE / endocrine / NM_003193
TBX19 / endocrine / NM_005149
TBX22 / malformationsyndrome / NM_016954
TBX3 / malformationsyndrome / NM_005996
TBX5 / malformationsyndrome / U89353
TBXA2R / hematological/hematological / D38081
TCAP / muscle / AJ000491
TCF1 / endocrine/metabolic / U72612
TCF2 / endocrine / U90279
TCIRG1 / bone_connectivetissue / U45285
TCN2 / immune / M60396
TCOF1 / malformationsyndrome / U40847
TDGF1 / neurological / NM_003212
TECTA / neurological / AF055136
TEK / malformationsyndrome / L06139
TF / hematological / M12530
TFAP2B / malformationsyndrome / X95694
TFPI / hematological / J03225
TFR2 / hematological / NM_003227
TGFB1 / bone_connectivetissue / X05839
TGFBI / nonneuraleye / M77349
TGFBR2 / cancer / M85079
TGIF / malformationsyndrome / X89750
TGM1 / skin / D90287
TH / neurological / X05290
THBD / hematological / M16552
THRB / endocrine / X04707
TIMM8A / neurological / U66035
TIMP1 / cardiovascular / X03124
TIMP2 / cardiovascular / NM_003255
TIMP3 / nonneuraleye / V14394
TK2 / muscle / NM_004614
TLR2 / immune / NM_003264
TLR4 / immune/pulmonary / U93091
TM4SF2 / neurological / NM_004615
TMC1 / neurological / AF417578
TMIE / neurological / NM_147196
TMPRSS3 / neurological / AB038157
TNFRSF1A / other / M60275
TNFRSF1B / cardiovascular / NM_01066
TNFRSF5 / immune / X60592
TNFRSF6 / immune / M67454
TNFSF5 / immune / M21139
TNNC1 / IDE / NM_003280
TNNI3 / cardiovascular / X54163
TNNT1 / muscle / AJ011712
TNNT2 / cardiovascular / X74819
TP53 / cancer / NM_004614
TP63 / malformationsyndrome / AF075430
TPI1 / metabolic/hematological / X03124
TPM1 / cardiovascular / M19713
TPMT / metabolic / U12387
TPO / endocrine / M25702
TREM2 / neurological/bone_connectivetissue / NM_018965
TRHR / endocrine / X72089
TRIM32 / neurological/muscle / NM_012210
TRPM6 / renal / AF448232
TRPS1 / malformationsyndrome / AF183810
TSC1 / other
TSC2 / cancer / TSC2
TSHB / endocrine / M21023
TSHR / endocrine / AJ011712
TTID / neurological/muscle / AF144477
TTPA / neurological/metabolic / D49488
TTR / other/endocrine / U49897
TULP1 / neurological / NM_003322
TWIST / malformationsyndrome / U80998
TYR / skin/nonneuraleye / U01873
TYRP1 / skin/nonneuraleye / X51420
UBE3A / neurological / X98032
UCHL1 / neurological / X04741
UCP1 / endocrine / NM_021833
UCP3 / endocrine / AF001787
UGT1A1 / metabolic / J04093
UGT1A7 / metabolic / U89507
UGT1D / metabolic / M84128
UMOD / renal / NM_003361
UMPS / metabolic / J03620
UROD / metabolic / M14016
UROS / metabolic/hematological / L42583
USH1C / neurological / AB040431
VDR / endocrine / Z13009
VHL / cancer / L15409
VMD2 / nonneuraleye/neurological / AF057169
VPREB1 / immune / NM_020070
VSX1 / nonneuraleye/neurological / NM_014588
VWF / hematological / J04058
WAS / hematological/immune
WFS1 / endocrine/neurological / AF084481
WHN / immune / Y11739
WISP3 / bone_connectivetissue / AF100781
WRN / cancer / L76937
WT1 / cancer / M74917
XDH / metabolic / D11456
XK / neurological/hematological / Z32684
XPA / cancer / D14533
XPC / cancer / D21089
XRCC1 / cancer / NM_006297
XRCC2 / cancer / Y08837
XRCC3 / cancer / NM_005432
ZAP70 / immune / L05148
ZFHX1B / neurological / AB056507
ZIC3 / malformationsyndrome / AF028706