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Prioritization of whole-exome data by random-walk analysis of protein-protein interactions

Phenotypic Series

The following table shows the 233 phenotypic series that were derived from OMIM's phenotypic series. Each series is used to define a disease-gene family for analysis with the Exome Walker.

1. Retinitis pigmentosa [268000]

GeneDisease
DHDDSRetinitis pigmentosa 59 [MIM: 613861]
RPE65Retinitis pigmentosa 20 [MIM: 613794]
ABCA4Retinitis pigmentosa 19 [MIM: 601718]
PRPF3Retinitis pigmentosa 18 [MIM: 601414]
SEMA4ARetinitis pigmentosa 35 [MIM: 610282]
CRB1Retinitis pigmentosa-12, autosomal recessive [MIM: 600105]
USH2ARetinitis pigmentosa 39 [MIM: 613809]
ZNF513Retinitis pigmentosa 58 [MIM: 613617]
C2orf71Retinitis pigmentosa 54 [MIM: 613428]
FAM161ARetinitis pigmentosa 28 [MIM: 606068]
SNRNP200Retinitis pigmentosa 33 [MIM: 610359]
MERTKRetinitis pigmentosa 38 [MIM: 613862]
CERKLRetinitis pigmentosa 26 [MIM: 608380]
SAGRetinitis pigmentosa 47 [MIM: 613758]
ARL6Retinitis pigmentosa 55 [MIM: 613575]
IMPG2Retinitis pigmentosa 56 [MIM: 613581]
RHORetinitis pigmentosa 4, autosomal dominant or recessive [MIM: 613731]
CLRN1Retinitis pigmentosa 61 [MIM: 614180]
PDE6BRetinitis pigmentosa-40 [MIM: 613801]
PROM1Retinitis pigmentosa 41 [MIM: 612095]
CNGA1Retinitis pigmentosa 49 [MIM: 613756]
PDE6ARetinitis pigmentosa 43 [MIM: 613810]
MAKREtinitis pigmentosa 62 [MIM: 614181]
TULP1Retinitis pigmentosa 14 [MIM: 600132]
GUCA1BRetinitis pigmentosa 48 [MIM: 613827]
PRPH2Retinitis pigmentosa, digenic [MIM: 608133]
EYSRetinitis pigmentosa 25 [MIM: 602772]
KLHL7Retinitis pigmentosa 42 [MIM: 612943]
RP9Retinitis pigmentosa 9 [MIM: 180104]
IMPDH1Retinitis pigmentosa 10 [MIM: 180105]
RP1Retinitis pigmentosa 1 [MIM: 180100]
C8orf37Retinitis pigmentosa 64 [MIM: 614500]
TOPORSRetinitis pigmentosa 31 [MIM: 609923]
CDHR1Cone-rod dystrophy 15 [MIM: 613660]
RGRRetinitis pigmentosa 44 [MIM: 613769]
BEST1Retinitis pigmentosa-50 [MIM: 613194]
NRLRetinitis pigmentosa 27 [MIM: 613750]
RDH12Leber congenital amaurosis 13 [MIM: 612712]
TTC8Retinitis pigmentosa 51 [MIM: 613464]
NR2E3Retinitis pigmentosa 37 [MIM: 611131]
CNGB1Retinitis pigmentosa 45 [MIM: 613767]
PRPF8Retinitis pigmentosa 13 [MIM: 600059]
CA4Retinitis pigmentosa 17 [MIM: 600852]
PRCDRetinitis pigmentosa 36 [MIM: 610599]
FSCN2Retinitis pigmentosa 30 [MIM: 607921]
PDE6GRetinitis pigmentosa 57 [MIM: 613582]
PRPF31Retinitis pigmentosa 11 [MIM: 600138]
IDH3BRetinitis pigmentosa 46 [MIM: 612572]
PRPF6Retinitis pigmentosa 60 [MIM: 613983]
RPGRRetinitis pigmentosa 3 [MIM: 300029]
SOX3Panhypopituitarism, X-linked [MIM: 312000]

2. Deafness, autosomal recessive [220290]

GeneDisease
ESPNDeafness, autosomal recessive 36 [MIM: 609006]
GJB3Deafness, digenic, GJB2/GJB3 [MIM: 220290]
KCNJ10Enlarged vestibular aqueduct, digenic [MIM: 600791]
OTOFDeafness, autosomal recessive 9 [MIM: 601071]
PNPT1Deafness, autosomal recessive 70 [MIM: 614934]
DFNB59Deafness, autosomal recessive 59 [MIM: 610220]
ATP2B2{Deafness, autosomal recessive 12, modifier of} [MIM: 601386]
TMIEDeafness, autosomal recessive 6 [MIM: 600971]
ILDR1Deafness, autosomal recessive 42 [MIM: 609646]
GRXCR1Deafness, autosomal recessive 25 [MIM: 613285]
MARVELD2Deafness, autosomal recessive 49 [MIM: 610153]
SERPINB6Deafness, autosomal recessive 91 [MIM: 613453]
COL11A2Deafness, autosomal recessive 53 [MIM: 609706]
LHFPL5Deafness, autosomal recessive 67 [MIM: 610265]
MYO6Deafness, autosomal recessive 37 [MIM: 607821]
HGFDeafness, autosomal recessive 39 [MIM: 608265]
SLC26A5Deafness, autosomal recessive 61 [MIM: 613865]
TMC1Deafness, autosomal recessive 7 [MIM: 600974]
DFNB31Deafness, autosomal recessive 31 [MIM: 607084]
TPRNDeafness, autosomal recessive 79 [MIM: 613307]
MYO3ADeafness, autosomal recessive 30 [MIM: 607101]
PCDH15Deafness, autosomal recessive 23 [MIM: 609533]
USH1CDeafness, autosomal recessive 18A [MIM: 602092]
OTOGDeafness, autosomal recessive 18B [MIM: 614945]
CABP2Deafness, autosomal recessive 93 [MIM: 614899]
LRTOMTDeafness, autosomal recessive 63 [MIM: 611451]
MYO7ADeafness, autosomal recessive 2 [MIM: 600060]
RDXDeafness, autosomal recessive 24 [MIM: 611022]
TECTADeafness, autosomal recessive 21 [MIM: 603629]
MSRB3Deafness, autosomal recessive 74 [MIM: 613718]
OTOGLDeafness, autosomal recessive 84B [MIM: 614944]
PTPRQDeafness, autosomal recessive 84A [MIM: 613391]
GJB6Deafness, autosomal recessive 1B [MIM: 612645]
ESRRBDeafness, autosomal recessive 35 [MIM: 608565]
STRCDeafness, autosomal recessive 16 [MIM: 603720]
CIB2Deafness, autosomal recessive 48 [MIM: 609439]
OTOADeafness, autosomal recessive 22 [MIM: 607039]
MYO15ADeafness, autosomal recessive 3 [MIM: 600316]
LOXHD1Deafness, autosomal recessive 77 [MIM: 613079]
GIPC3Deafness, autosomal recessive 15 [MIM: 601869]
CLDN14Deafness, autosomal recessive 29 [MIM: 614035]
TMPRSS3Deafness, autosomal recessive 8/10 [MIM: 601072]
TSPEARDeafness, autosomal recessive 98 [MIM: 614861]
TRIOBPDeafness, autosomal recessive 28 [MIM: 609823]

3. 600363 SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT [303350]

GeneDisease
AP4B1Spastic paraplegia 47, autosomal recessive [MIM: 614066]
GJC2Spastic paraplegia 44, autosomal recessive [MIM: 613206]
SPASTSpastic paraplegia 4, autosomal dominant [MIM: 182601]
REEP1Spastic paraplegia 31, autosomal dominant [MIM: 610250]
HSPD1Spastic paraplegia 13, autosomal dominant [MIM: 605280]
KIF1ASpastic paraplegia 30, autosomal recessive [MIM: 610357]
SLC33A1Spastic paraplegia 42, autosomal dominant [MIM: 612539]
CYP2U1Spastic paraplegia 56, autosomal recessive [MIM: 615030]
AP5Z1Spastic paraplegia 48, autosomal recessive [MIM: 613647]
AP4M1Spastic paraplegia 50, autosomal recessive [MIM: 612936]
VPS37ASpastic paraplegia 53, autosomal recessive [MIM: 614898]
ERLIN2Spastic paraplegia 18, autosomal recessive [MIM: 611225]
DDHD2Spastic paraplegia 54, autosomal recessive [MIM: 615033]
CYP7B1Spastic paraplegia 5A, autosomal recessive [MIM: 270800]
KIAA0196Spastic paraplegia 8, autosomal dominant [MIM: 603563]
ZFYVE27Spastic paraplegia 33, autosomal dominant [MIM: 610244]
BSCL2Silver spastic paraplegia syndrome [MIM: 270685]
KIF5ASpastic paraplegia 10, autosomal dominant [MIM: 604187]
C12orf65Spastic paraplegia 55, autosomal recessive [MIM: 615035]
SPG20Troyer syndrome [MIM: 275900]
AP4S1Spastic paraplegia 52, autosomal recessive [MIM: 614067]
ATL1Spastic paraplegia 3A, autosomal dominant [MIM: 182600]
DDHD1Spastic paraplegia 28, autosomal recessive [MIM: 609340]
ZFYVE26Spastic paraplegia 15, autosomal recessive [MIM: 270700]
TECPR2Spastic paraplegia 49, autosomal recessive [MIM: 615031]
SPG11Spastic paraplegia 11, autosomal recessive [MIM: 604360]
AP4E1Spastic paraplegia 51, autosomal recessive [MIM: 613744]
SPG21Mast syndrome [MIM: 248900]
FA2HSpastic paraplegia 35, autosomal recessive [MIM: 612319]
SPG7Spastic paraplegia 7, autosomal recessive [MIM: 607259]
PNPLA6Spastic paraplegia 39, autosomal recessive [MIM: 612020]
RTN2Spastic paraplegia 12, autosomal dominant [MIM: 604805]
PLP1Spastic paraplegia 2, X-linked [MIM: 312920]
L1CAMMASA syndrome [MIM: 303350]

4. Dilated cardiomyopathy [115200]

GeneDisease
NEXNCardiomyopathy, dilated, 1CC [MIM: 613122]
LMNACardiomyopathy, dilated, 1A [MIM: 115200]
TNNT2Cardiomyopathy, dilated, 1D [MIM: 601494]
PSEN2Cardiomyopathy, dilated, 1V [MIM: 613697]
ACTN2Cardiomyopathy, dilated, 1AA [MIM: 612158]
TTNCardiomyopathy, dilated, 1G [MIM: 604145]
DESCardiomyopathy, dilated, 1I [MIM: 604765]
SCN5ACardiomyopathy, dilated, 1E [MIM: 601154]
TNNC1Cardiomyopathy, dilated, 1Z [MIM: 611879]
SDHACardiomyopathy, dilated, 1GG [MIM: 613642]
SGCDCardiomyopathy, dilated, 1L [MIM: 606685]
PLNCardiomyopathy, dilated, 1P [MIM: 609909]
EYA4Cardiomyopathy, dilated, 1J [MIM: 605362]
GATAD1Cardiomyopathy, dilated, 2B [MIM: 614672]
FKTNCardiomyopathy, dilated, 1X [MIM: 611615]
VCLCardiomyopathy, dilated, 1W [MIM: 611407]
LDB3Left ventricular noncompaction 3, with or without dilated cardiomyopathy [MIM: 601493]
RBM20Cardiomyopathy, dilated, 1DD [MIM: 613172]
BAG3Cardiomyopathy, dilated, 1HH [MIM: 613881]
CSRP3Cardiomyopathy, dilated, 1M [MIM: 607482]
ABCC9Cardiomyopathy, dilated, 1O [MIM: 608569]
TMPOCardiomyopathy, dilated, 1T [MIM: 613740]
MYH6Cardiomyopathy, dilated, 1EE [MIM: 613252]
MYH7Cardiomyopathy, dilated, 1S [MIM: 613426]
PSEN1Cardiomyopathy, dilated, 1U [MIM: 613694]
ACTC1Left ventricular noncompaction 4 [MIM: 613424]
TPM1Cardiomyopathy, dilated, 1Y [MIM: 611878]
TCAPCardiomyopathy, dilated, 1N [MIM: 607487]
DSG2Cardiomyopathy, dilated, 1BB [MIM: 612877]
TNNI3Cardiomyopathy, dilated, 1FF [MIM: 613286]
DMDCardiomyopathy, dilated, 3B [MIM: 302045]

5. Charcot-Marie-Tooth disease [118220]

GeneDisease
KIF1BCharcot-Marie-Tooth disease, type 2A1 [MIM: 118210]
MFN2Charcot-Marie-Tooth disease, type 2A2 [MIM: 609260]
YARSCharcot-Marie-Tooth disease, dominant intermediate C [MIM: 608323]
LMNACharcot-Marie-Tooth disease, type 2B1 [MIM: 605588]
MPZCharcot-Marie-Tooth disease, dominant intermediate D [MIM: 607791]
RAB7ACharcot-Marie-Tooth disease, type 2B [MIM: 600882]
SH3TC2Charcot-Marie-Tooth disease, type 4C [MIM: 601596]
FIG4Charcot-Marie-Tooth disease, type 4J [MIM: 611228]
GARSCharcot-Marie-Tooth disease, type 2D [MIM: 601472]
HSPB1Charcot-Marie-Tooth disease, axonal, type 2F [MIM: 606595]
NEFLCharcot-Marie-Tooth disease, type 1F [MIM: 607734]
GDAP1Charcot-Marie-Tooth disease, recessive intermediate, A [MIM: 608340]
NDRG1Charcot-Marie-Tooth disease, type 4D [MIM: 601455]
LRSAM1Charcot-Marie-Toothe disease, axonal, type 2P [MIM: 614436]
EGR2Charcot-Marie-Tooth disease, type 1D [MIM: 607678]
SBF2Charcot-Marie-Tooth disease, type 4B2 [MIM: 604563]
MTMR2Charcot-Marie-Tooth disease, type 4B1 [MIM: 601382]
FGD4Charcot-Marie-Tooth disease, type 4H [MIM: 609311]
HSPB8Charcot-Marie-Tooth disease, axonal, type 2L [MIM: 608673]
DYNC1H1Charcot-Marie-Tooth disease, axonal, type 20 [MIM: 614228]
LITAFCharcot-Marie-Tooth disease, type 1C [MIM: 601098]
AARSCharcot-Marie-Tooth disease, axonal, type 2N [MIM: 613287]
KARSCharcot-Marie-Tooth disease, recessive intermediate, B [MIM: 613641]
PMP22Charcot-Marie-Tooth disease, type 1A [MIM: 118220]
DNM2Charcot-Marie-Tooth disease, dominant intermediate B [MIM: 606482]
PRXCharcot-Marie-Tooth disease, type 4F [MIM: 614895]
MED25Charcot-Marie-Tooth disease, type 2B2 [MIM: 605589]
GJB1Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 [MIM: 302800]
PRPS1Charcot-Marie-Tooth disease, X-linked recessive, 5 [MIM: 311070]
AIFM1Cowchock syndrome [MIM: 310490]

6. Deafness, autosomal dominant [124900]

GeneDisease
GJB3Deafness, autosomal dominant 2B [MIM: 612644]
KCNQ4Deafness, autosomal dominant 2A [MIM: 600101]
CCDC50Deafness, autosomal dominant 44 [MIM: 607453]
WFS1Deafness, autosomal dominant 6/14/38 [MIM: 600965]
DIAPH1Deafness, autosomal dominant 1 [MIM: 124900]
POU4F3Deafness, autosomal dominant 15 [MIM: 602459]
COL11A2Deafness, autosomal dominant 13 [MIM: 601868]
MYO6Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy [MIM: 606346]
EYA4Deafness, autosomal dominant 10 [MIM: 601316]
DFNA5Deafness, autosomal dominant 5 [MIM: 600994]
MIR96Deafness, autosomal dominant 50 [MIM: 613074]
GRHL2Deafness, autosomal dominant 28 [MIM: 608641]
TMC1Deafness, autosomal dominant 36 [MIM: 606705]
MYO7ADeafness, autosomal dominant 11 [MIM: 601317]
TECTADeafness, autosomal dominant 8/12 [MIM: 601543]
MYO1ADeafness, autosomal dominant 48 [MIM: 607841]
SLC17A8Deafness, autosomal dominant 25 [MIM: 605583]
DIABLODeafness, autosomal dominant 64 [MIM: 614152]
GJB2Deafness, autosomal dominant 3A [MIM: 601544]
GJB6Deafness, autosomal dominant 3B [MIM: 612643]
COCHDeafness, autosomal dominant 9 [MIM: 601369]
SIX1Deafness, autosomal dominant 23 [MIM: 605192]
ACTG1Deafness, autosomal dominant 20/26 [MIM: 604717]
CEACAM16Deafness, autosomal dominant 4B [MIM: 614614]
MYH14Deafness, autosomal dominant 4A [MIM: 600652]
MYH9Deafness, autosomal dominant 17 [MIM: 603622]

7. Mental retardation, X-linked syndromic [309510]

GeneDisease
AP1S2Mental retardation, X-linked syndromic, Fried type [MIM: 300630]
SMSMental retardation, X-linked, Snyder-Robinson type [MIM: 309583]
ARXPartington syndrome [MIM: 309510]
ATP6AP2Mental retardation, X-linked, with epilepsy [MIM: 300423]
CASKMental retardation and microcephaly with pontine and cerebellar hypoplasia [MIM: 300749]
PQBP1Renpenning syndrome [MIM: 309500]
KDM5CMental retardation, X-linked, syndromic, Claes-Jensen type [MIM: 300534]
HSD17B10Mental retardation, X-linked syndromic 10 [MIM: 300220]
HUWE1Mental retardation, X-linked syndromic, Turner type [MIM: 300706]
PHF8Mental retardation syndrome, X-linked, Siderius type [MIM: 300263]
FGD1Mental retardation, X-linked syndromic 16 [MIM: 305400]
IGBP1Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia [MIM: 300472]
HDAC8Wilson-Turner syndrome [MIM: 309585]
RAB40ALMental retardation, X-linked, syndromic, Martin-Probst type [MIM: 300519]
PRPS1Arts syndrome [MIM: 301835]
UBE2AMental retardation, X-linked syndromic, Nascimento-type [MIM: 300860]
UPF3BMental retardation, X-linked, syndromic 14 [MIM: 300676]
CUL4BMental retardation, X-linked, syndromic 15 (Cabezas type) [MIM: 300354]
GRIA3Mental retardation, X-linked 94 [MIM: 300699]
ZDHHC9Mental retardation, X-linked syndromic, Raymond type [MIM: 300799]
PHF6Borjeson-Forssman-Lehmann syndrome [MIM: 301900]
SLC9A6Mental retardation, X-linked syndromic, Christianson type [MIM: 300243]
MECP2Mental retardation, X-linked syndromic, Lubs type [MIM: 300260]
CLIC2Mental retardation, X-linked, syndromic 32 [MIM: 300886]

8. Congenital disorders of glycosylation, type I [212065]

GeneDisease
DDOSTCongenital disorder of glycosylation, type Ir [MIM: 614507]
ALG6Congenital disorder of glycosylation, type Ic [MIM: 603147]
PGM1Congenital disorder of glycosylation, type It [MIM: 614921]
DPM3Congenital disorder of glycosylation, type Io [MIM: 612937]
RFT1Congenital disorder of glycosylation, type In [MIM: 612015]
ALG3Congenital disorder of glycosylation, type Id [MIM: 601110]
SRD5A3Congenital disorder of glycosylation, type Iq [MIM: 612379]
ALG2Congenital disorder of glycosylation, type Ii [MIM: 607906]
DPM2Congenital disorder of glycosylation, type Iu [MIM: 615042]
DOLKCongenital disorder of glycosylation, type Im [MIM: 610768]
ALG8Congenital disorder of glycosylation, type Ih [MIM: 608104]
ALG9Congenital disorder of glycosylation, type Il [MIM: 608776]
DPAGT1Congenital disorder of glycosylation, type Ij [MIM: 608093]
ALG11Congenital disorder of glycosylation, type Ip [MIM: 613661]
MPICongenital disorder of glycosylation, type Ib [MIM: 602579]
ALG1Congenital disorder of glycosylation, type Ik [MIM: 608540]
PMM2Congenital disorder of glycosylation, type Ia [MIM: 212065]
MPDU1Congenital disorder of glycosylation, type If [MIM: 609180]
DPM1Congenital disorder of glycosylation, type Ie [MIM: 608799]
ALG12Congenital disorder of glycosylation, type Ig [MIM: 607143]
ALG13Congenital disorder of glycosylation, type Is [MIM: 300884]

9. Mental retardation, autosomal dominant [156200]

GeneDisease
ARID1AMental retardation, autosomal dominant 14 [MIM: 614607]
MBD5Mental retardation, autosomal dominant 1 [MIM: 156200]
KIF1AMental retardation, autosomal dominant 9 [MIM: 614255]
MEF2CChromosome 5q14.3 deletion syndrome [MIM: 613443]
SYNGAP1Mental retardation, autosomal dominant 5 [MIM: 612621]
ARID1BMental retardation, autosomal dominant 12 [MIM: 614562]
DOCK8Mental retardation, autosomal dominant 2 [MIM: 614113]
GRIN1Mental retardation, autosomal dominant 8 [MIM: 614254]
EHMT1Kleefstra syndrome [MIM: 610253]
PACS1Mental retardation, autosomal dominant 17 [MIM: 615009]
KIRREL3Mental retardation, autosomal dominant 4 [MIM: 612581]
GRIN2BMental retardation, autosomal dominant 6 [MIM: 613970]
DYNC1H1Mental retardation, autosomal dominant 13 [MIM: 614563]
CDH15Mental retardation, autosomal dominant 3 [MIM: 612580]
KANSL1Koolen-De Vries syndrome [MIM: 610443]
SMARCA4Mental retardation, autosomal dominant 16 [MIM: 614609]
EPB41L1Mental retardation, autosomal dominant 11 [MIM: 614257]
DYRK1AMental retardation, autosomal dominant 7 [MIM: 614104]
SMARCB1Mental retardation, autosomal dominant 15 [MIM: 614608]
CACNG2Mental retardation, autosomal dominant 10 [MIM: 614256]

10. Spinocerebellar ataxia [164400]

GeneDisease
ITPR1Spinocerebellar ataxia 29, congenital nonprogressive [MIM: 117360]
ATXN7Spinocerebellar ataxia 7 [MIM: 164500]
PPP2R2BSpinocerebellar ataxia 12 [MIM: 604326]
ATXN1Spinocerebellar ataxia 1 [MIM: 164400]
TBPSpinocerebellar ataxia 17 [MIM: 607136]
SPTBN2Spinocerebellar ataxia 5 [MIM: 600224]
ATXN2{Amyotrophic lateral sclerosis, susceptibility to, 13} [MIM: 183090]
ATXN8Spinocerebellar ataxia 8 [MIM: 608768]
FGF14Spinocerebellar ataxia 27 [MIM: 609307]
ATXN3Machado-Joseph disease [MIM: 109150]
TTBK2Spinocerebellar ataxia 11 [MIM: 604432]
BEAN1Spinocerebellar ataxia 31 [MIM: 117210]
AFG3L2Spinocerebellar ataxia 28 [MIM: 610246]
CACNA1ASpinocerebellar ataxia 6 [MIM: 183086]
KCNC3Spinocerebellar ataxia 13 [MIM: 605259]
PRKCGSpinocerebellar ataxia 14 [MIM: 605361]
PDYNSpinocerebellar ataxia 23 [MIM: 610245]
TGM6Spinocerebellar ataxia 35 [MIM: 613908]
NOP56Spinocerebellar ataxia 36 [MIM: 614153]
ATXN10Spinocerebellar ataxia 10 [MIM: 603516]

11. Cardiomyopathy, familial hypertrophic [192600]

GeneDisease
NEXNCardiomyopathy, familial hypertrophic, 20 [MIM: 613876]
TNNT2Cardiomyopathy, familial hypertrophic, 2 [MIM: 115195]
TTNCardiomyopathy, familial hypertrophic, 9 [MIM: 613765]
CAV3Cardiomyopathy, familial hypertrophic [MIM: 192600]
MYL3Cardiomyopathy, familial hypertrophic, 8 [MIM: 608751]
TNNC1Cardiomyopathy, familial hypertrophic, 13 [MIM: 613243]
MYOZ2Cardiomyopathy, familial hypertrophic, 16 [MIM: 613838]
PLNCardiomyopathy, familial hypertrophic, 18 [MIM: 613874]
PRKAG2Cardiomyopathy, familial hypertrophic 6 [MIM: 600858]
VCLCardiomyopathy, familial hypertrophic, 15 [MIM: 613255]
CSRP3Cardiomyopathy, familial hypertrophic, 12 [MIM: 612124]
MYBPC3Cardiomyopathy, familial hypertrophic, 4 [MIM: 115197]
MYL2Cardiomyopathy, familial hypertrophic, 10 [MIM: 608758]
MYH6Cardiomyopathy, familial hypertrophic, 14 [MIM: 613251]
ACTC1Cardiomyopathy, familial hypertrophic, 11 [MIM: 612098]
TPM1Cardiomyopathy, familial hypertrophic, 3 [MIM: 115196]
CALR3Cardiomyopathy, familial hypertrophic, 19 [MIM: 613875]
TNNI3Cardiomyopathy, familial hypertrophic, 7 [MIM: 613690]
JPH2Cardiomyopathy, familial hypertrophic 17 [MIM: 613873]

12. Primary ciliary dyskinesia [244400]

GeneDisease
CCDC39Ciliary dyskinesia, primary, 14 [MIM: 613807]
DNAH5Ciliary dyskinesia, primary, 3, with or without situs inversus [MIM: 608644]
RSPH9Ciliary dyskinesia, primary, 12 [MIM: 612650]
RSPH4ACiliary dyskinesia, primary, 11 [MIM: 612649]
HEATR2Ciliary dyskinesia, primary, 18 [MIM: 614874]
DNAH11Ciliary dyskinesia, primary, 7, with or without situs inversus [MIM: 611884]
NME8Ciliary dyskinesia, primary, 6 [MIM: 610852]
LRRC6Ciliary dyskinesia, primary, 19 [MIM: 614935]
DNAI1Ciliary dyskinesia, primary, 1, with or without situs inversus [MIM: 244400]
DNAAF2Ciliary dyskinesia, primary, 10 [MIM: 612518]
DNAL1Ciliary dyskinesia, primary, 16 [MIM: 614017]
HYDINCiliary dyskinesia, primary, 5 [MIM: 608647]
DNAAF1Ciliary dyskinesia, primary, 13 [MIM: 613193]
CCDC103Ciliary dyskinesia, primary, 17 [MIM: 614679]
DNAI2Ciliary dyskinesia, primary, 9, with or without situs inversus [MIM: 612444]
CCDC40Ciliary dyskinesia, primary, 15 [MIM: 613808]
CCDC114Ciliary dyskinesia, primary, 20 [MIM: 615067]
DNAAF3Ciliary dyskinesia, primary, 2 [MIM: 606763]

13. Joubert syndrome [213300]

GeneDisease
NPHP1Joubert syndrome 4 [MIM: 609583]
TMEM237Joubert syndrome 14 [MIM: 614424]
ARL13BJoubert syndrome 8 [MIM: 612291]
CC2D2AJoubert syndrome 9 [MIM: 612285]
C5orf42Joubert syndrome 17 [MIM: 614615]
AHI1Joubert syndrome-3 [MIM: 608629]
CEP41Joubert syndrome 15 [MIM: 614464]
TMEM67Joubert syndrome 6 [MIM: 610688]
INPP5EJoubert syndrome 1 [MIM: 213300]
TCTN3Joubert syndrome 18 [MIM: 614815]
TMEM138Joubert syndrome 16 [MIM: 614465]
TMEM216Joubert syndrome 2 [MIM: 608091]
CEP290Joubert syndrome 5 [MIM: 610188]
TCTN1Joubert syndrome 13 [MIM: 614173]
KIF7Joubert syndrome 12 [MIM: 200990]
RPGRIP1LJoubert syndrome 7 [MIM: 611560]
OFD1Joubert syndrome 10 [MIM: 300804]

14. Amyotrophic lateral sclerosis [105400]

GeneDisease
TARDBPFrontotemporal lobar degeneration, TARDBP-related [MIM: 612069]
DCTN1{Amyotrophic lateral sclerosis, susceptibility to} [MIM: 105400]
ALS2Amyotrophic lateral sclerosis 2, juvenile [MIM: 205100]
CHMP2BAmyotrophic lateral sclerosis 17 [MIM: 614696]
FIG4Amyotrophic lateral sclerosis 11 [MIM: 612577]
C9orf72Amyotrophic lateral sclerosis and/or frontotemporal dementia [MIM: 105550]
SIGMAR1Amyotrophic lateral sclerosis 16, juvenile [MIM: 614373]
VCPAmyotrophic lateral sclerosis 14, with or without frontotemporal dementia [MIM: 613954]
SETXAmyotrophic lateral sclerosis 4, juvenile [MIM: 602433]
OPTNAmyotrophic lateral sclerosis 12 [MIM: 613435]
ATXN2Spinocerebellar ataxia 2 [MIM: 183090]
ANGAmyotrophic lateral sclerosis 9 [MIM: 611895]
FUSAmyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia [MIM: 608030]
PFN1Amyotrophic lateral sclerosis 18 [MIM: 614808]
VAPBAmyotrophic lateral sclerosis 8 [MIM: 608627]
UBQLN2Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [MIM: 300857]

15. Hypogonadotropic hypogonadism with or without anosmia [147950]

GeneDisease
KISS1Hypogonadotropic hypogonadism 13 with or without anosmia [MIM: 614842]
HS6ST1{Hypogonadotropic hypogonadism 15 with or without anosmia} [MIM: 614880]
PROK2Hypogonadotropic hypogonadism 4 with or without anosmia [MIM: 610628]
GNRHRHypogonadotropic hypogonadism 7 with or without anosmia [MIM: 146110]
TACR3Hypogonadotropic hypogonadism 11 with or without anosmia [MIM: 614840]
SEMA3AHypogonadotropic hypogonadism 16 with or without anosmia [MIM: 614897]
GNRH1Hypogonadotropic hypogonadism 12 with or without anosmia [MIM: 614841]
FGFR1Hypogonadotropic hypogonadism 2 with or without anosmia [MIM: 147950]
CHD7Hypogonadotropic hypogonadism 5 with or without anosmia [MIM: 612370]
NSMFHypogonadotropic hypogonadism 9 with or without anosmia [MIM: 614838]
FGF8Hypogonadotropic hypogonadism 6 with or without anosmia [MIM: 612702]
WDR11Hypogonadtropic hypogonadism 14 with or without anosmia [MIM: 614858]
TAC3Hypogonadotropic hypogonadism 10 with or without anosmia [MIM: 614839]
KISS1RHypogonadotropic hypogonadism 8 with or without anosmia [MIM: 614837]
PROKR2Hypogonadotropic hypogonadism 3 with or without anosmia [MIM: 244200]
KAL1Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [MIM: 308700]

16. Leber congenital amaurosis [204000]

GeneDisease
NMNAT1Leber congenital amaurosis 9 [MIM: 608553]
RPE65Leber congenital amaurosis 2 [MIM: 204100]
CRB1Leber congenital amaurosis 8 [MIM: 613835]
RD3Leber congenital amaurosis 12 [MIM: 610612]
KCNJ13Leber congenital amaurosis 16 [MIM: 614186]
LRATLeber congenital amaurosis 14 [MIM: 613341]
TULP1Leber congenital amaurosis 15 [MIM: 613843]
LCA5Leber congenital amaurosis 5 [MIM: 604537]
IMPDH1Leber congenital amaurosis 11 [MIM: 613837]
CEP290Leber congenital amaurosis 10 [MIM: 611755]
RPGRIP1Leber congenital amaurosis 6 [MIM: 613826]
RDH12Leber congenital amaurosis 13 [MIM: 612712]
SPATA7Leber congenital amaurosis 3 [MIM: 604232]
AIPL1Retinitis pigmentosa, juvenile [MIM: 604393]
GUCY2DLeber congenital amaurosis 1 [MIM: 204000]
CRXLeber congenital amaurosis 7 [MIM: 613829]

17. Combined oxidative phosphorylation deficiency [609060]

GeneDisease
PNPT1Combined oxidative phosphorylation deficiency 13 [MIM: 614932]
MRPL3Combined oxidative phosphorylation deficiency 9 [MIM: 614582]
MRPS22Combined oxidative phosphorylation deficiency 5 [MIM: 611719]
GFM1Combined oxidative phosphorylation deficiency 1 [MIM: 609060]
FARS2Combined oxidative phosphorylation deficiency 14 [MIM: 614946]
AARS2Combined oxidative phosphorylation deficiency 8 [MIM: 614096]
MTO1Combined oxidative phosphorylation deficiency 10 [MIM: 614702]
RMND1Combined oxidative phosphorylation deficiency 11 [MIM: 614922]
MRPS16Combined oxidative phosphorylation deficiency 2 [MIM: 610498]
TSFMCombined oxidative phosphorylation deficiency 3 [MIM: 610505]
C12orf65Combined oxidative phosphorylation deficiency 7 [MIM: 613559]
MTFMTCombined oxidative phosphorylation deficiency 15 [MIM: 614947]
EARS2Combined oxidative phosphorylation deficiency 12 [MIM: 614924]
TUFMCombined oxidative phosphorylation deficiency 4 [MIM: 610678]
AIFM1Combined oxidative phosphorylation deficiency 6 [MIM: 300816]

18. Fanconi anemia [227650]

GeneDisease
FANCLFanconi anemia, complementation group L [MIM: 614083]
FANCD2Fanconi anemia, complementation group D2 [MIM: 227646]
FANCEFanconi anemia, complementation group E [MIM: 600901]
FANCGFanconi anemia, complementation group G [MIM: 614082]
FANCCFanconi anemia, complementation group C [MIM: 227645]
FANCFFanconi anemia, complementation group F [MIM: 603467]
BRCA2Fanconi anemia, complementation group D1 [MIM: 605724]
FANCMFanconi anemia, complementation group M [MIM: 614087]
FANCIFanconi anemia, complementation group I [MIM: 609053]
SLX4Fanconi anemia, complementation group P [MIM: 613951]
PALB2Fanconi anemia, complementation group N [MIM: 610832]
FANCAFanconi anemia, complementation group A [MIM: 227650]
RAD51CFanconi anemia, complementation group 0 [MIM: 613390]
BRIP1Fanconi anemia, complementation group J [MIM: 609054]
FANCBFanconi anemia, complementation group B [MIM: 300514]

19. Epileptic encephalopathy, early infantile [308350]

GeneDisease
ST3GAL3Epileptic encephalopathy, early infantile, 15 [MIM: 615006]
SCN2AEpileptic encephalopathy, early infantile, 11 [MIM: 613721]
SCN1ADravet syndrome [MIM: 607208]
STXBP1Epileptic encephalopathy, early infantile, 4 [MIM: 612164]
SPTAN1Epileptic encephalopathy, early infantile, 5 [MIM: 613477]
SLC25A22Epileptic encephalopathy, early infantile, 3 [MIM: 609304]
SCN8AEpileptic encephalopathy, early infantile, 13 [MIM: 614558]
PNKPEpileptic encephalopathy, early infantile, 10 [MIM: 613402]
PLCB1Epileptic encephalopathy, early infantile, 12 [MIM: 613722]
KCNQ2Epileptic encephalopathy, early infantile, 7 [MIM: 613720]
CDKL5Epileptic encephalopathy, early infantile, 2 [MIM: 300672]
ARXEpileptic encephalopathy, early infantile, 1 [MIM: 308350]
ARHGEF9Epileptic encephalopathy, early infantile, 8 [MIM: 300607]
PCDH19Epileptic encephalopathy, early infantile, 9 [MIM: 300088]

20. Peroxisomal biogenesis disorder [214100]

GeneDisease
PEX10Peroxisome biogenesis disorder 6B [MIM: 614871]
PEX14Peroxisome biogenesis disorder 13A (Zellweger) [MIM: 614887]
PEX11BPeroxisome biogenesis disorder 14B [MIM: 614920]
PEX19Peroxisome biogenesis disorder 12A (Zellweger) [MIM: 614886]
PEX13Peroxisome biogenesis disorder 11B [MIM: 614885]
PEX6Peroxisome biogenesis disorder 4A (Zellweger) [MIM: 614862]
PEX7Peroxisome biogenesis disorder 9B [MIM: 614879]
PEX3Peroxisome biogenesis disorder 10A (Zellweger) [MIM: 614882]
PEX1Peroxisome biogenesis disorder 1A (Zellweger) [MIM: 214100]
PEX2Peroxisome biogenesis disorder 5B [MIM: 614867]
PEX16Peroxisome biogenesis disorder 8B [MIM: 614877]
PEX5Peroxisome biogenesis disorder 2A (Zellweger) [MIM: 214110]
PEX12Peroxisome biogenesis disorder 3A (Zellweger) [MIM: 614859]
PEX26Peroxisome biogenesis disorder 7B [MIM: 614873]

21. Bleeding disorder, platelet-type [231200]

GeneDisease
NBEAL2Gray platelet syndrome [MIM: 139090]
GP9Bernard-Soulier syndrome, type C [MIM: 231200]
P2RY12Bleeding disorder, platelet-type, 8 [MIM: 609821]
ITGA2?Glycoprotein Ia deficiency [MIM: 614200]
CD36Platelet glycoprotein IV deficiency [MIM: 608404]
TBXAS1?Thromboxane synthase deficiency [MIM: 614158]
PLAUQuebec platelet disorder [MIM: 601709]
ANO6Scott syndrome [MIM: 262890]
GP1BAvon Willebrand disease, platelet-type [MIM: 177820]
ITGA2BGlanzmann thrombasthenia [MIM: 273800]
TBXA2R{Bleeding disorder, platelet-type, 13, susceptibility to} [MIM: 614009]
GP6Bleeding disorder, platelet-type, 11 [MIM: 614201]
MYH9May-Hegglin anomaly [MIM: 155100]

22. Long QT syndrome [192500]

GeneDisease
CAV3Long QT syndrome-9 [MIM: 611818]
SCN5ALong QT syndrome-3 [MIM: 603830]
ANK2Long QT syndrome-4 [MIM: 600919]
AKAP9Long QT syndrome-11 [MIM: 611820]
KCNH2Long QT syndrome-2 [MIM: 613688]
KCNQ1Long QT syndrome-1 [MIM: 192500]
SCN4BLong QT syndrome-10 [MIM: 611819]
KCNJ5Long QT syndrome 13 [MIM: 613485]
CACNA1CTimothy syndrome [MIM: 601005]
KCNJ2Andersen syndrome [MIM: 170390]
SNTA1Long QT syndrome 12 [MIM: 612955]
KCNE2Long QT syndrome-6 [MIM: 613693]
KCNE1Long QT syndrome-5 [MIM: 613695]

23. Night blindness, congenital stationary [310500]

GeneDisease
SAGOguchi disease-1 [MIM: 258100]
GNAT1Night blindness, congenital stationary, autosomal dominant 3 [MIM: 610444]
RHONight blindness, congenital stationary, autosomal dominant 1 [MIM: 610445]
PDE6BNight blindness, congenital stationary, autosomal dominant 2 [MIM: 163500]
LRIT3Night blindness, congenital stationary (complete), 1F, autosomal recessive [MIM: 615058]
GRM6Night blindness, congenital stationary (complete), 1B, autosomal recessive [MIM: 257270]
CABP4Night blindness, congenital stationary (incomplete), 2B, autosomal recessive [MIM: 610427]
GRK1Oguchi disease-2 [MIM: 613411]
TRPM1Night blindness, congenital stationary (complete), 1C, autosomal recessive [MIM: 613216]
SLC24A1Night blindness, congenital stationary (complete), 1D, autosomal recessive [MIM: 613830]
GPR179Night blindness, congenital stationary (complete), 1E, autosomal recessive [MIM: 614565]
NYXNight blindness, congenital stationary (complete), 1A, X-linked [MIM: 310500]
CACNA1FNight blindness, congenital stationary (incomplete), 2A, X-linked [MIM: 300071]

24. Parkinson disease [168600]

GeneDisease
PARK7Parkinson disease 7, autosomal recessive early-onset [MIM: 606324]
ATP13A2Parkinson disease 9 [MIM: 606693]
PINK1Parkinson disease 6, early onset [MIM: 605909]
GBA{Parkinson disease, late-onset, susceptibility to} [MIM: 168600]
HTRA2Parkinson disease 13 [MIM: 610297]
GIGYF2Parkinson disease 11 [MIM: 607688]
UCHL1{Parkinson disease 5, susceptibility to} [MIM: 613643]
SNCAParkinson disease 1 [MIM: 168601]
PARK2Parkinson disease, juvenile, type 2 [MIM: 600116]
LRRK2Parkinson disease 8 [MIM: 607060]
VPS35Parkinson disease 17 [MIM: 614203]
FBXO7Parkinson disease 15, autosomal recessive [MIM: 260300]
PLA2G6Parkinson disease 14 [MIM: 612953]

25. Congenital disorders of glycosylation, type II [212066]

GeneDisease
MOGSCongenital disorder of glycosylation, type IIb [MIM: 606056]
TMEM165Congenital disorder of glycosylation, type IIk [MIM: 614727]
SLC35A1Congenital disorder of glycosylation, type IIf [MIM: 603585]
COG5Congenital disorder of glycosylation, type IIi [MIM: 613612]
B4GALT1Congenital disorder of glycosylation, type IId [MIM: 607091]
SLC35C1Congenital disorder of glycosylation, type IIc [MIM: 266265]
COG6Congenital disorder of glycosylation, type IIl [MIM: 614576]
MGAT2Congenital disorder of glycosylation, type IIa [MIM: 212066]
COG7Congenital disorder of glycosylation, type IIe [MIM: 608779]
COG8Congenital disorder of glycosylation, type IIh [MIM: 611182]
COG4Congenital disorder of glycosylation, type IIj [MIM: 613489]
COG1Congenital disorder of glycosylation, type IIg [MIM: 611209]

26. Mental retardation, autosomal recessive [249500]

GeneDisease
ST3GAL3Mental retardation, autosomal recessive 12 [MIM: 611090]
CRBNMental retardation, autosomal recessive 2 [MIM: 607417]
PRSS12Mental retardation, autosomal recessive 1 [MIM: 249500]
NSUN2Mental retardation, autosomal recessive 5 [MIM: 611091]
GRIK2Mental retardation, autosomal recessive, 6 [MIM: 611092]
MED23Mental retardation, autosomal recessive 18 [MIM: 614249]
TUSC3Mental retardation, autosomal recessive 7 [MIM: 611093]
TRAPPC9Mental retardation, autosomal recessive 13 [MIM: 613192]
MAN1B1Mental retardation, autosomal recessive 15 [MIM: 614202]
CRADDMental retardation, autosomal recessive 34 [MIM: 614499]
CC2D1AMental retardation, autosomal recessive 3 [MIM: 608443]
TECRMental retardation, autosomal recessive 14 [MIM: 614020]

27. Nephronophthisis [256100]

GeneDisease
NPHP4Nephronophthisis 4 [MIM: 606966]
NPHP1Nephronophthisis 1, juvenile [MIM: 256100]
TTC21BNephronophthisis 12 [MIM: 613820]
NPHP3Nephronophthisis 3 [MIM: 604387]
WDR19Nephronophthisis 13 [MIM: 614377]
TMEM67Nephronophthisis 11 [MIM: 613550]
INVSNephronophthisis 2, infantile [MIM: 602088]
CEP164Nephronophthisis 15 [MIM: 614845]
GLIS2Nephronophthisis 7 [MIM: 611498]
ZNF423Nephronophthisis 14 [MIM: 614844]
NEK8Nephronophthisis 9 [MIM: 613824]
XPNPEP3Nephronophthisis-like nephropathy 1 [MIM: 613159]

28. Osteogenesis imperfecta [166200]

GeneDisease
COL1A2Osteogenesis imperfecta, type IV [MIM: 166220]
LEPRE1Osteogenesis imperfecta, type VIII [MIM: 610915]
CRTAPOsteogenesis imperfecta, type VII [MIM: 610682]
BMP1Osteogenesis imperfecta, type XIII [MIM: 614856]
TMEM38BOsteogenesis imperfecta, type XIV [MIM: 615066]
IFITM5Osteogenesis imperfecta, type V [MIM: 610967]
SERPINH1Osteogenesis imperfecta, type X [MIM: 613848]
SP7Osteogenesis imperfecta, type XII [MIM: 613849]
PPIBOsteogenesis imperfecta, type IX [MIM: 259440]
SERPINF1Osteogenesis imperfecta, type VI [MIM: 613982]
FKBP10Osteogenesis imperfecta, type XI [MIM: 610968]
COL1A1Osteogenesis imperfecta, type I [MIM: 166200]

29. Autism, susceptiblity to [209850]

GeneDisease
SLC9A9{Autism susceptibility 16} [MIM: 613410]
MET{Autism suseptibility 9} [MIM: 611015]
CNTNAP2{Autism susceptibility 15} [MIM: 612100]
EN2{Autism susceptibility 10} [MIM: 611016]
SHANK2{Autism susceptibility 17} [MIM: 613436]
CHD8{Autism, susceptibility to, 18} [MIM: 615032]
NLGN4X{Autism susceptibility, X-linked 2} [MIM: 300495]
NLGN3{Autism susceptibility, X-linked 1} [MIM: 300425]
MECP2{Autism susceptibility, X-linked 3} [MIM: 300496]
RPL10{Autism, susceptibility to, X-linked 5} [MIM: 300847]
TMLHEEpsilon-trimethyllysine hydroxylase deficiency [MIM: 300872]

30. Hereditary sensory and autonomic neuropathy [162400]

GeneDisease
NGFNeuropathy, hereditary sensory and autonomic, type V [MIM: 608654]
NTRK1Insensitivity to pain, congenital, with anhidrosis [MIM: 256800]
KIF1ANeuropathy, hereditary sensory, type IIC [MIM: 614213]
FAM134BNeuropathy, hereditary sensory and autonomic, type IIB [MIM: 613115]
DSTNeuropathy, hereditary sensory and autonomic, type VI [MIM: 614653]
SPTLC1Neuropathy, hereditary sensory and autonomic, type IA [MIM: 162400]
IKBKAPDysautonomia, familial [MIM: 223900]
WNK1Neuropathy, hereditary sensory and autonomic, type II [MIM: 201300]
ATL1Neuropathy, hereditary sensory, type ID [MIM: 613708]
SPTLC2Neuropathy, hereditary sensory and autonomic, type IC [MIM: 613640]
DNMT1Neuropathy, hereditary sensory, type IE [MIM: 614116]

31. Diamond-Blackfan anemia [105650]

GeneDisease
RPL11Diamond-Blackfan anemia 7 [MIM: 612562]
RPL5Diamond-Blackfan anemia 6 [MIM: 612561]
RPS7Diamond-Blackfan anemia 8 [MIM: 612563]
RPL35ADiamond-Blackfan anemia 5 [MIM: 612528]
RPS10Diamond-Blackfan anemia 9 [MIM: 613308]
RPS24Diamond-blackfan anemia 3 [MIM: 610629]
RPS26Diamond-Blackfan anemia 10 [MIM: 613309]
RPS17Diamond-Blackfan anemia 4 [MIM: 612527]
RPL26Diamond-Blackfan anemia 11 [MIM: 614900]
RPS19Diamond-Blackfan anemia 1 [MIM: 105650]

32. Meckel syndrome [249000]

GeneDisease
NPHP3Meckel syndrome 7 [MIM: 267010]
CC2D2AMeckel syndrome 6 [MIM: 612284]
TMEM67Meckel syndrome 3 [MIM: 607361]
TMEM216Meckel syndrome 2 [MIM: 603194]
CEP290Meckel syndrome 4 [MIM: 611134]
TCTN2Meckel syndrome 8 [MIM: 613885]
RPGRIP1LMeckel syndrome 5 [MIM: 611561]
B9D1Meckel syndrome 9 [MIM: 614209]
MKS1Meckel syndrome 1 [MIM: 249000]
B9D2Meckel syndrome 10 [MIM: 614175]

33. Mitochondrial DNA depletion syndrome [603041]

GeneDisease
MPV17Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) [MIM: 256810]
DGUOKMitochondrial DNA depletion syndrome 3 (hepatocerebral type) [MIM: 251880]
SUCLG1Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) [MIM: 245400]
RRM2BMitochondrial DNA depletion syndrome 8B (MNGIE type) [MIM: 612075]
C10orf2Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) [MIM: 271245]
SUCLA2Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) [MIM: 612073]
POLGMitochondrial DNA depletion syndrome 4A (Alpers type) [MIM: 203700]
TK2Mitochondrial DNA depletion syndrome 2 (myopathic type) [MIM: 609560]
MGME1Mitochondrial DNA depletion syndrome 11 [MIM: 615084]
TYMPMitochondrial DNA depletion syndrome 1 (MNGIE type) [MIM: 603041]

34. Mucopolysaccharidoses [607014]

GeneDisease
GLB1Mucopolysaccharidosis type IVB (Morquio) [MIM: 253010]
HYAL1Mucopolysaccharidosis type IX [MIM: 601492]
IDUAMucopolysaccharidosis Is [MIM: 607016]
ARSBMucopolysaccharidosis type VI (Maroteaux-Lamy) [MIM: 253200]
GUSBMucopolysaccharidosis VII [MIM: 253220]
HGSNATMucopolysaccharidosis type IIIC (Sanfilippo C) [MIM: 252930]
GALNSMucopolysaccharidosis IVA [MIM: 253000]
NAGLUMucopolysaccharidosis type IIIB (Sanfilippo B) [MIM: 252920]
SGSHMucopolysaccharidisis type IIIA (Sanfilippo A) [MIM: 252900]
IDSMucopolysaccharidosis II [MIM: 309900]

35. Skin/hair/eye pigmentation, variation in [227220]

GeneDisease
SLC45A2[Skin/hair/eye pigmentation 5, black/nonblack hair] [MIM: 227240]
TYRP1Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair) [MIM: 612271]
TPCN2[Skin/hair/eye pigmentation 10, blond/brown hair] [MIM: 612267]
TYR[Skin/hair/eye pigmentation 3, light/dark/freckling skin] [MIM: 601800]
KITLG[Skin/hair/eye pigmentation 7, blond/brown hair] [MIM: 611664]
SLC24A4[Skin/hair/eye pigmentation 6, blue/green eyes] [MIM: 210750]
OCA2[Skin/hair/eye pigmentation 1, blue/nonblue eyes] [MIM: 227220]
SLC24A5[Skin/hair/eye pigmentation 4, fair/dark skin] [MIM: 113750]
MC1R{UV-induced skin damage} [MIM: 266300]
ASIP[Skin/hair/eye pigmentation 9, brown/nonbrown eyes] [MIM: 611742]

36. Thrombophilia [188050]

GeneDisease
MTHFR{Thromboembolism, susceptibility to} [MIM: 188050]
F5{Thrombophilia, susceptibility to, due to factor V Leiden} [MIM: 188055]
SERPINC1Thrombophilia due to antithrombin III deficiency [MIM: 613118]
PROCThrombophilia due to protein C deficiency, autosomal dominant [MIM: 176860]
PROS1Thrombophilia due to protein S deficiency, autosomal recessive [MIM: 614514]
HRGThrombophilia due to elevated HRG [MIM: 613116]
PLATThrombophilia, familial, due to decreased release of PLAT [MIM: 612348]
THBDThrombophilia due to thrombomodulin defect [MIM: 614486]
SERPIND1Thrombophilia due to heparin cofactor II deficiency [MIM: 612356]
F9{Deep venous thrombosis, protection against} [MIM: 300807]

37. Usher syndrome [276900]

GeneDisease
USH2AUsher syndrome, type 2A [MIM: 276901]
CLRN1Usher syndrome, type 3A [MIM: 276902]
GPR98Usher syndrome, type 2C, GPR98/PDZD7 digenic [MIM: 605472]
HARSUsher syndrome type 3B [MIM: 614504]
DFNB31Usher syndrome, type 2D [MIM: 611383]
PCDH15Usher syndrome, type 1D/F digenic [MIM: 601067]
USH1CUsher syndrome, type 1C [MIM: 276904]
MYO7AUsher syndrome, type 1B [MIM: 276900]
CIB2Usher syndrome, type IJ [MIM: 614869]
USH1GUsher syndrome, type 1G [MIM: 606943]

38. Ceroid lipofuscinoses [256730]

GeneDisease
PPT1Ceroid lipofuscinosis, neuronal, 1 [MIM: 256730]
MFSD8Ceroid lipofuscinosis, neuronal, 7 [MIM: 610951]
CLN8Ceroid lipofuscinosis, neuronal, 8 [MIM: 600143]
CTSDCeroid lipofuscinosis, neuronal, 10 [MIM: 610127]
TPP1Ceroid lipofuscinosis, neuronal, 2 [MIM: 204500]
CLN5Ceroid lipofuscinosis, neuronal, 5 [MIM: 256731]
CLN6Ceroid lipofuscinosis, neuronal, Kufs type, adult onset [MIM: 204300]
CLN3Ceroid lipofuscinosis, neuronal, 3 [MIM: 204200]
GRNCeroid lipofuscinosis, neuronal, 11 [MIM: 614706]

39. Microcephaly, primary autosomal recessive [251200]

GeneDisease
STILMicrocephaly 7, primary, autosomal recessive [MIM: 612703]
ASPMMicrocephaly 5, primary, autosomal recessive [MIM: 608716]
CEP135Microcephaly 8, primary, autosomal recessive [MIM: 614673]
MCPH1Microcephaly 1, primary, autosomal recessive [MIM: 251200]
CDK5RAP2Microcephaly 3, primary, autosomal recessive [MIM: 604804]
CENPJMicrocephaly 6, primary, autosomal recessive [MIM: 608393]
CASC5Microcephaly 4, primary, autosomal recessive [MIM: 604321]
CEP152Microcephaly 9, primary, autosomal recessive [MIM: 614852]
WDR62Microcephaly 2, primary, autosomal recessive, with or without cortical malformations [MIM: 604317]

40. Muscular dystrophy-dystroglycanopathy, type A [236670]

GeneDisease
POMGNT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 [MIM: 253280]
POMGNT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 [MIM: 614830]
ISPDMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 [MIM: 614643]
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [MIM: 253800]
POMT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [MIM: 236670]
TMEM5Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 [MIM: 615041]
POMT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 [MIM: 613150]
FKRPMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 [MIM: 613153]
LARGEMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 [MIM: 613154]

41. Pontocerebellar hypoplasia [607596]

GeneDisease
TSEN2Pontocerebellar hypoplasia type 2B [MIM: 612389]
SEPSECSPontocerebellar hypoplasia type 2D [MIM: 613811]
RARS2Pontocerebellar hypoplasia, type 6 [MIM: 611523]
EXOSC3Pontocerebellar hypoplasia, type 1B [MIM: 614678]
KCNT1Epileptic encephalopathy, early infantile, 14 [MIM: 614959]
VRK1Pontocerebellar hypoplasia type 1A [MIM: 607596]
CHMP1APontocerebellar hypoplasia, type 8 [MIM: 614961]
TSEN54Pontocerebellar hypoplasia type 2A [MIM: 277470]
TSEN34Pontocerebellar hypoplasia type 2C [MIM: 612390]

42. Amelogenesis imperfecta [104500]

GeneDisease
ENAMAmelogenesis imperfecta, type IB [MIM: 104500]
C4orf26Amelogenesis imperfecta, hypomaturation type, IIA4 [MIM: 614832]
FAM83HAmelogenesis imperfecta, type 3 [MIM: 130900]
MMP20Amelogenesis imperfecta, type IIA2 [MIM: 612529]
WDR72Amelogenesis imperfecta, hypomaturation type, IIA3 [MIM: 613211]
DLX3Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism [MIM: 104510]
KLK4Amelogenesis imperfecta, type IIA1 [MIM: 204700]
AMELXAmelogenesis imperfecta, hypoplastic/hypomaturation type 1E [MIM: 301200]

43. Arrhythmogenic right ventricular dysplasia [107970]

GeneDisease
RYR2Arrhythmogenic right ventricular dysplasia 2 [MIM: 600996]
TMEM43Arrhythmogenic right ventricular dysplasia 5 [MIM: 604400]
DSPArrhythmogenic right ventricular dysplasia 8 [MIM: 607450]
PKP2Arrhythmogenic right ventricular dysplasia 9 [MIM: 609040]
TGFB3Arrhythmogenic right ventricular dysplasia 1 [MIM: 107970]
JUPArrhythmogenic right ventricular dysplasia 12 [MIM: 611528]
DSC2Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair [MIM: 610476]
DSG2Arrhythmogenic right ventricular dysplasia 10 [MIM: 610193]

44. Atrial fibrillation, familial [608583]

GeneDisease
NPPAAtrial fibrillation, familial, 6 [MIM: 612201]
GJA5Atrial fibrillation, familial, 11 [MIM: 614049]
SCN5AAtrial fibrillation, familial, 10 [MIM: 614022]
KCNQ1Atrial fibrillation, familial, 3 [MIM: 607554]
KCNA5Atrial fibrillation, familial, 7 [MIM: 612240]
ABCC9Atrial fibrillation, familial, 12 [MIM: 614050]
KCNJ2Atrial fibrillation, familial, 9 [MIM: 613980]
KCNE2Atrial fibrillation, familial, 4 [MIM: 611493]

45. Brugada syndrome [601144]

GeneDisease
GPD1LBrugada syndrome 2 [MIM: 611777]
SCN5ABrugada syndrome 1 [MIM: 601144]
CACNB2Brugada syndrome 4 [MIM: 611876]
KCNE3Brugada syndrome 6 [MIM: 613119]
SCN3BBrugada syndrome 7 [MIM: 613120]
CACNA1CBrugada syndrome 3 [MIM: 611875]
HCN4Brugada syndrome 8 [MIM: 613123]
SCN1BCardiac conduction defect, nonspecific [MIM: 612838]

46. Ichthyosis, congenital, autosomal recessive [242300]

GeneDisease
ABCA12Ichthyosis, autosomal recessive 4B (harlequin) [MIM: 242500]
NIPAL4Ichthyosis, congenital, autosomal recessive 6 [MIM: 612281]
PNPLA1Ichthyosis, congenital, autosomal recessive 10 [MIM: 615024]
LIPNIchthyosis, congenital, autosomal recessive 8 [MIM: 613943]
TGM1Ichthyosis, congenital, autosomal recessive 1 [MIM: 242300]
ALOX12BIchthyosis, congenital, autosomal recessive 2 [MIM: 242100]
ALOXE3Ichthyosis, congenital, autosomal recessive 3 [MIM: 606545]
CYP4F22Ichthyosis, congenital, autosomal recessive 5 [MIM: 604777]

47. Immunodeficiency, common variable [607594]

GeneDisease
CR2Immunodeficiency, common variable, 7 [MIM: 614699]
ICOSImmunodeficiency, common variable, 1 [MIM: 607594]
LRBAImmunodeficiency, common variable, 8, with autoimmunity [MIM: 614700]
CD81Immunodeficiency, common variable, 6 [MIM: 613496]
MS4A1Immunodeficiency, common variable, 5 [MIM: 613495]
CD19Immunodeficiency, common variable, 3 [MIM: 613493]
TNFRSF13BImmunodeficiency, common variable, 2 [MIM: 240500]
TNFRSF13CImmunodeficiency, common variable, 4 [MIM: 613494]

48. Inflammatory bowel disease [266600]

GeneDisease
IL23R{Inflammatory bowel disease 17, protection against} [MIM: 612261]
ATG16L1{Inflammatory bowel disease 10} [MIM: 611081]
IRGMInflammatory bowel disease 19 [MIM: 612278]
IL6{Crohn disease-associated growth failure} [MIM: 266600]
ABCB1{Inflammatory bowel disease 13} [MIM: 612244]
IRF5{Inflammatory bowel disease 14} [MIM: 612245]
IL10RAInflammatory bowel disease 28, early onset, autosomal recessive [MIM: 613148]
IL10RBInflammatory bowel disease 25, early onset, autosomal recessive [MIM: 612567]

49. Osteopetrosis, autosomal recessive [259700]

GeneDisease
OSTM1Osteopetrosis, autosomal recessive 5 [MIM: 259720]
SNX10Osteopetrosis, autosomal recessive 8 [MIM: 615085]
CA2Osteopetrosis, autosomal recessive 3, with renal tubular acidosis [MIM: 259730]
TCIRG1Osteopetrosis, autosomal recessive 1 [MIM: 259700]
TNFSF11Osteopetrosis, autosomal recessive 2 [MIM: 259710]
CLCN7Osteopetrosis, autosomal recessive 4 [MIM: 611490]
PLEKHM1Osteopetrosis, autosomal recessive 6 [MIM: 611497]
TNFRSF11AOsteopetrosis, autosomal recessive 7 [MIM: 612301]

50. Spermatogenic failure [258150]

GeneDisease
SPATA16Spermatogenic failure 6 [MIM: 102530]
NR5A1Spermatogenic failure 8 [MIM: 613957]
CATSPER1Spermatogenic failure 7 [MIM: 612997]
DPY19L2Spermatogenic failure 9 [MIM: 613958]
SYCP3Spermatogenic failure 4 [MIM: 270960]
SEPT12Spermatogenic failure 10 [MIM: 614822]
AURKCSpermatogenic failure 5 [MIM: 243060]
USP9YSpermatogenic failure, Y-linked, 2 [MIM: 415000]

51. Agammaglobulinemia [601495]

GeneDisease
LRRC8AAgammaglobulinemia 5 [MIM: 613506]
BLNKAgammaglobulinemia 4 [MIM: 613502]
IGHMAgammaglobulinemia 1 [MIM: 601495]
CD79BAgammaglobulinemia 6 [MIM: 612692]
CD79AAgammaglobulinemia 3 [MIM: 613501]
IGLL1Agammaglobulinemia 2 [MIM: 613500]
BTKAgammaglobulinemia, X-linked 1 [MIM: 300755]

52. Atrial septal defect [108800]

GeneDisease
TLL1Atrial septal defect 6 [MIM: 613087]
NKX2-5Atrial septal defect 7, with or without AV conduction defects [MIM: 108900]
CITED2Atrial septal defect 8 [MIM: 614433]
TBX20Atrial septal defect 4 [MIM: 611363]
GATA4Atrial septal defect 2 [MIM: 607941]
MYH6Atrial septal defect 3 [MIM: 614089]
ACTC1Atrial septal defect 5 [MIM: 612794]

53. Colorectal cancer, hereditary nonpolyposis [120435]

GeneDisease
EPCAMColorectal cancer, hereditary nonpolyposis, type 8 [MIM: 613244]
MSH2Colorectal cancer, hereditary nonpolyposis, type 1 [MIM: 120435]
MSH6Colorectal cancer, hereditary nonpolyposis, type 5 [MIM: 614350]
TGFBR2Colorectal cancer, hereditary nonpolyposis, type 6 [MIM: 614331]
MLH1Colorectal cancer, hereditary nonpolyposis, type 2 [MIM: 609310]
PMS2Colorectal cancer, hereditary nonpolyposis, type 4 [MIM: 614337]
MLH3Colon cancer, hereditary nonpolyposis, type 7 [MIM: 614385]

54. Ectodermal dysplasia (select examples) [305100]

GeneDisease
EDARADDEctodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [MIM: 614941]
EDAREctodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [MIM: 129490]
MSX1Ectodermal dysplasia 3, Witkop type [MIM: 189500]
KRT85Ectodermal dysplasia 4, hair/nail type [MIM: 602032]
HOXC13Ectodermal dysplasia 9, hair/nail type [MIM: 614931]
GJB6Ectodermal dysplasia 2, Clouston type [MIM: 129500]
EDAEctodermal dysplasia 1, hypohidrotic, X-linked [MIM: 305100]

55. Epilepsy, progressive myoclonic [254800]

GeneDisease
PRICKLE2Epilepsy, progressive myoclonic 5 [MIM: 613832]
SCARB2Epilepsy, progressive myoclonic 4, with or without renal failure [MIM: 254900]
NHLRC1Epilepsy, progressive myoclonic 2B (Lafora) [MIM: 254780]
KCTD7Epilepsy, progressive myoclonic 3, with or without intracellular inclusions [MIM: 611726]
PRICKLE1Epilepsy, progressive myoclonic 1B [MIM: 612437]
GOSR2Epilepsy, progressive myoclonic 6 [MIM: 614018]
CSTBEpilepsy, progressive myoclonic 1A (Unverricht and Lundborg) [MIM: 254800]

56. Hemolytic uremic syndrome [235400]

GeneDisease
CFH{Hemolytic uremic syndrome, atypical, susceptibility to, 1} [MIM: 235400]
CFHR5Nephropathy due to CFHR5 deficiency [MIM: 614809]
CD46{Hemolytic uremic syndrome, atypical, susceptibility to, 2} [MIM: 612922]
CFI{Hemolytic uremic syndrome, atypical, susceptibility to, 3} [MIM: 612923]
CFB{Hemolytic uremic syndrome, atypical, susceptibility to, 4} [MIM: 612924]
C3{Hemolytic uremic syndrome, atypical, susceptibility to, 5} [MIM: 612925]
THBD{Hemolytic uremic syndrome, atypical, susceptibility to, 6} [MIM: 612926]

57. Holoprosencephaly [236100]

GeneDisease
SIX3Holoprosencephaly-2 [MIM: 157170]
GLI2Holoprosencephaly-9 [MIM: 610829]
SHHHoloprosencephaly-3 [MIM: 142945]
PTCH1Holoprosencephaly-7 [MIM: 610828]
CDONHoloprosencephaly 11 [MIM: 614226]
ZIC2Holoprosencephaly-5 [MIM: 609637]
TGIF1Holoprosencephaly-4 [MIM: 142946]

58. Hyperinsulinemia hypoglycemia [256450]

GeneDisease
SLC16A1Hyperinsulinemic hypoglycemia, familial, 7 [MIM: 610021]
HADHHyperinsulinemic hypoglycemia, familial, 4 [MIM: 609975]
GCKHyperinsulinemic hypoglycemia, familial, 3 [MIM: 602485]
GLUD1Hyperinsulinism-hyperammonemia syndrome [MIM: 606762]
KCNJ11Hyperinsulinemic hypoglycemia, familial, 2 [MIM: 601820]
ABCC8Hyperinsulinemic hypoglycemia, familial, 1 [MIM: 256450]
INSRHyperinsulinemic hypoglycemia, familial, 5 [MIM: 609968]

59. Hypotrichosis [605389]

GeneDisease
SNRPEHypotrichosis 11 [MIM: 615059]
LIPHHypotrichosis, localized, autosomal recessive 2 [MIM: 604379]
CDSNHypotrichosis simplex of scalp 1 [MIM: 146520]
HRHypotrichosis, hereditary, Marie Unna type, 1 [MIM: 146550]
KRT74Hypotrichosis simplex of the scalp 2 [MIM: 613981]
APCDD1Hypotrichosis simplex [MIM: 605389]
DSG4Hypotrichosis, localized, autosomal recessive [MIM: 607903]

60. Leukodystrophy, hypomyelinating [312080]

GeneDisease
GJC2Leukodystrophy, hypomyelinating, 2 [MIM: 608804]
HSPD1Leukodystrophy, hypomyelinating, 4 [MIM: 612233]
AIMP1Leukodystrophy, hypomyelinating, 3 [MIM: 260600]
FAM126ALeukodystrophy, hypomyelinating, 5 [MIM: 610532]
POLR3ALeukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism [MIM: 607694]
POLR3BLeukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism [MIM: 614381]
PLP1Pelizaeus-Merzbacher disease [MIM: 312080]

61. Microphthalmia, syndromic [309800]

GeneDisease
SOX2Optic nerve hypoplasia and abnormalities of the central nervous system [MIM: 206900]
VAX1Microphthalmia, syndromic 11 [MIM: 614402]
BMP4Microphthalmia, syndromic 6 [MIM: 607932]
OTX2Retinal dystrophy, early-onset, and pituitary dysfunction [MIM: 610125]
STRA6Microphthalmia, syndromic 9 [MIM: 601186]
HCCSMicrophthalmia, syndromic 7 [MIM: 309801]
BCORMicrophthalmia, syndromic 2 [MIM: 300166]

62. Microvascular complications of diabetes [603933]

GeneDisease
IL1RN{Microvascular complications of diabetes 4} [MIM: 612628]
HFE{Microvascular complications of diabetes 7} [MIM: 612635]
VEGFA{Microvascular complications of diabetes 1} [MIM: 603933]
SOD2{Microvascular complications of diabetes 6} [MIM: 612634]
PON1{Microvascular complications of diabetes 5} [MIM: 612633]
EPO{Microvascular complications of diabetes 2} [MIM: 612623]
ACE{Microvascular complications of diabetes 3} [MIM: 612624]

63. Nephrotic syndrome [256300]

GeneDisease
NPHS2Nephrotic syndrome, type 2 [MIM: 600995]
LAMB2Nephrotic syndrome, type 5, with or without ocular abnormalities [MIM: 614199]
PLCE1Nephrotic syndrome, type 3 [MIM: 610725]
WT1Nephrotic syndrome, type 4 [MIM: 256370]
PTPRONephrotic syndrome, type 6 [MIM: 614196]
DGKENephrotic syndrome, type 7 [MIM: 615008]
NPHS1Nephrotic syndrome, type 1 [MIM: 256300]

64. 46,XY sex reversal [400044]

GeneDisease
MAP3K146XY sex reversal 6 [MIM: 613762]
NR5A146XY sex reversal 3 [MIM: 612965]
AKR1C246XY sex reversal 8 [MIM: 614279]
DHH46XY sex reversal 7 [MIM: 233420]
CBX246XY sex reversal 5 [MIM: 613080]
NR0B146XY sex reversal 2, dosage-sensitive [MIM: 300018]

65. Aicardi-Goutieres syndrome [225750]

GeneDisease
ADARAicardi-Goutieres syndrome 6 [MIM: 615010]
TREX1Aicardi-Goutieres syndrome 1, dominant and recessive [MIM: 225750]
RNASEH2CAicardi-Goutieres syndrome 3 [MIM: 610329]
RNASEH2BAicardi-Goutieres syndrome 2 [MIM: 610181]
RNASEH2AAicardi-Goutieres syndrome 4 [MIM: 610333]
SAMHD1Aicardi-Goutieres syndrome 5 [MIM: 612952]

66. Coenzyme Q10 deficiency, primary [607426]

GeneDisease
ADCK3Coenzyme Q10 deficiency, primary, 4 [MIM: 612016]
COQ2Coenzyme Q10 deficiency, primary, 1 [MIM: 607426]
PDSS2Coenzyme Q10 deficiency, primary, 3 [MIM: 614652]
PDSS1Coenzyme Q10 deficiency, primary, 2 [MIM: 614651]
COQ6Coenzyme Q10 deficiency, primary, 6 [MIM: 614650]
COQ9Coenzyme Q10 deficiency, primary, 5 [MIM: 614654]

67. Diarrhea, congenital [214700]

GeneDisease
EPCAMDiarrhea 5, with tufting enteropathy, congenital [MIM: 613217]
SLC26A3Chloride diarrhea, congenital, Finnish type [MIM: 214700]
NEUROG3Diarrhea 4, malabsorptive, congenital [MIM: 610370]
GUCY2CDiarrhea 6 [MIM: 614616]
MYO5BMicrovillus inclusion disease [MIM: 251850]
SPINT2Diarrhea 3, secretory sodium, congenital, syndromic [MIM: 270420]

68. Dyskeratosis congenita [127550]

GeneDisease
TERTDyskeratosis congenita, autosomal recessive 4 [MIM: 613989]
NHP2Dyskeratosis congenita, autosomal recessive 2 [MIM: 613987]
TINF2Dyskeratosis congenita, autosomal dominant 3 [MIM: 613990]
NOP10Dyskeratosis congenita, autosomal recessive 1 [MIM: 224230]
WRAP53Dyskeratosis congenita, autosomal recessive 3 [MIM: 613988]
DKC1Dyskeratosis congenita, X-linked [MIM: 305000]

69. Epiphyseal dysplasia, multiple [132400]

GeneDisease
COL9A2Epiphyseal dysplasia, multiple, 2 [MIM: 600204]
MATN3Epiphyseal dysplasia, multiple, 5 [MIM: 607078]
SLC26A2Epiphyseal dysplasia, multiple, 4 [MIM: 226900]
COL9A1Epiphyseal dysplasia, multiple, 6 [MIM: 614135]
COMPEpiphyseal dysplasia, multiple 1 [MIM: 132400]
COL9A3Epiphyseal dysplasia, multiple, 3 [MIM: 600969]

70. Focal segmental glomerulosclerosis [603278]

GeneDisease
CD2APGlomerulosclerosis, focal segmental, 3 [MIM: 607832]
TRPC6Glomerulosclerosis, focal segmental, 2 [MIM: 603965]
INF2Glomerulosclerosis, focal segmental, 5 [MIM: 613237]
MYO1EGlomerulosclerosis, focal segmental, 6 [MIM: 614131]
ACTN4Glomerulosclerosis, focal segmental, 1 [MIM: 603278]
APOL1{Glomerulosclerosis, focal segmental, 4, susceptibility to} [MIM: 612551]

71. Hypomagnesemia [602014]

GeneDisease
CLDN19Hypomagnesemia 5, renal, with ocular involvement [MIM: 248190]
CLDN16Hypomagnesemia 3, renal [MIM: 248250]
EGFHypomagnesemia 4, renal [MIM: 611718]
TRPM6Hypomagnesemia 1, intestinal [MIM: 602014]
CNNM2Hypomagnesemia 6, renal [MIM: 613882]
FXYD2Hypomagnesemia-2, renal [MIM: 154020]

72. Lissencephaly [607432]

GeneDisease
RELNLissencephaly 2 (Norman-Roberts type) [MIM: 257320]
APOC3Hyperalphalipoproteinemia 2 [MIM: 614028]
TUBA1ALissencephaly 3 [MIM: 611603]
PAFAH1B1Subcortical laminar heterotopia [MIM: 607432]
ARXLissencephaly, X-linked 2 [MIM: 300215]
DCXLissencephaly, X-linked [MIM: 300067]

73. Microphthalmia, isolated [251600]

GeneDisease
PRSS56Microphthalmia, isolated 6 [MIM: 613517]
GDF6Microphthalmia, isolated 4 [MIM: 613094]
MFRPMicrophthalmia, isolated 5 [MIM: 611040]
GDF3Microphthalmia, isolated 7 [MIM: 613704]
VSX2Microphthalmia, isolated 2 [MIM: 610093]
RAXMicrophthalmia, isolated 3 [MIM: 611038]

74. Muscular dystrophy-dystroglycanopathy, type B [613155]

GeneDisease
POMGNT1Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 [MIM: 613151]
FKTNMuscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 [MIM: 613152]
POMT1Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 [MIM: 613155]
POMT2Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 [MIM: 613156]
FKRPMuscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 [MIM: 606612]
LARGEMuscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 [MIM: 608840]

75. Muscular dystrophy-dystroglycanopathy, type C [609308]

GeneDisease
POMGNT1Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 [MIM: 613157]
DAG1Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 [MIM: 613818]
FKTNMuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 [MIM: 611588]
POMT1Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 [MIM: 609308]
POMT2Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 [MIM: 613158]
FKRPMuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 [MIM: 607155]

76. Noonan syndrome [163950]

GeneDisease
NRASNoonan syndrome 6 [MIM: 613224]
SOS1Noonan syndrome 4 [MIM: 610733]
RAF1Noonan syndrome 5 [MIM: 611553]
BRAFNoonan syndrome 7 [MIM: 613706]
KRASNoonan syndrome 3 [MIM: 609942]
PTPN11Noonan syndrome 1 [MIM: 163950]

77. Orofacial cleft [119530]

GeneDisease
IRF6Orofacial cleft 6 [MIM: 608864]
SUMO1Orofacial cleft 10 [MIM: 613705]
TP63Rapp-Hodgkin syndrome [MIM: 129400]
MSX1Orofacial cleft 5 [MIM: 608874]
PVRL1Orofacial cleft 7 [MIM: 225060]
BMP4Orofacial cleft 11 [MIM: 600625]

78. Pituitary hormone deficiency, combined [613038]

GeneDisease
LHX4Pituitary hormone deficiency, combined, 4 [MIM: 262700]
HESX1Septooptic dysplasia [MIM: 182230]
POU1F1Pituitary hormone deficiency, combined, 1 [MIM: 613038]
PROP1Pituitary hormone deficiency, combined, 2 [MIM: 262600]
LHX3Pituitary hormone deficiency, combined, 3 [MIM: 221750]
OTX2Pituitary hormone deficiency, combined, 6 [MIM: 613986]

79. Pyruvate dehydrogenase complex deficiency [312170]

GeneDisease
PDHBPyruvate dehydrogenase E1-beta deficiency [MIM: 614111]
LIASPyruvate dehydrogenase lipoic acid synthetase deficiency [MIM: 614462]
PDP1Pyruvate dehydrogenase phosphatase deficiency [MIM: 608782]
PDHXLacticacidemia due to PDX1 deficiency [MIM: 245349]
DLATPyruvate dehydrogenase E2 deficiency [MIM: 245348]
PDHA1Pyruvate dehydrogenase E1-alpha deficiency [MIM: 312170]

80. Seckel syndrome [210600]

GeneDisease
CEP63Seckel syndrome 6 [MIM: 614728]
ATRSeckel syndrome 1 [MIM: 210600]
CENPJSeckel syndrome 4 [MIM: 613676]
NINSeckel syndrome 7 [MIM: 614851]
CEP152Seckel syndrome 5 [MIM: 613823]
RBBP8Seckel syndrome 2 [MIM: 606744]

81. Short rib-polydactyly syndrome [208500]

GeneDisease
TTC21BAsphyxiating thoracic dystrophy 4 [MIM: 613819]
IFT80Asphyxiating thoracic dystrophy 2 [MIM: 611263]
EVC2Ellis-van Creveld syndrome [MIM: 225500]
WDR19Asphyxiating thoracic dystrophy 5 [MIM: 614376]
NEK1Short rib-polydactyly syndrome, type IIA [MIM: 263520]
DYNC2H1Asphyxiating thoracic dystrophy 3 [MIM: 613091]

82. Waardenburg syndrome [193500]

GeneDisease
PAX3Waardenburg syndrome, type 3 [MIM: 148820]
MITFWaardenburg syndrome/ocular albinism, digenic [MIM: 103470]
SNAI2Waardenburg syndrome, type 2D [MIM: 608890]
EDNRBWaardenburg syndrome, type 4A [MIM: 277580]
EDN3Waardenburg syndrome, type 4B [MIM: 613265]
SOX10Waardenburg syndrome, type 4C [MIM: 613266]

83. Cornelia de Lange syndrome [122470]

GeneDisease
NIPBLCornelia de Lange syndrome 1 [MIM: 122470]
RAD21Cornelia de Lange syndrome 4 [MIM: 614701]
SMC3Cornelia de Lange syndrome 3 [MIM: 610759]
SMC1ACornelia de Lange syndrome 2 [MIM: 300590]
HDAC8Cornelia de Lange syndrome 5 [MIM: 300882]

84. Emery-Dreifuss muscular dystrophy [310300]

GeneDisease
LMNAEmery-Dreifuss muscular dystrophy 3, AR [MIM: 181350]
SYNE1Emery-Dreifuss muscular dystrophy 4, autosomal dominant [MIM: 612998]
SYNE2Emery-Dreifuss muscular dystrophy 5, autosomal dominant [MIM: 612999]
FHL1Emery-Dreifuss muscular dystrophy 6, X-linked [MIM: 300696]
EMDEmery-Dreifuss muscular dystrophy 1, X-linked [MIM: 310300]

85. Epilepsy, generalized, with febrile seizures plus [604233]

GeneDisease
GABRD{Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to} [MIM: 613060]
SCN1AFebrile seizures, familial, 3A [MIM: 604403]
SCN9AFebrile seizures, familial, 3B [MIM: 613863]
GABRG2Febrile seizures, familial, 8 [MIM: 611277]
SCN1BEpilepsy, generalized, with febrile seizures plus, type 1 [MIM: 604233]

86. Familial candidiasis [114580]

GeneDisease
STAT1Candidiasis, familial, 7 [MIM: 614162]
IL17FCandidiasis, familial, 6, autosomal dominant [MIM: 613956]
CARD9Candidiasis, familial, 2, autosomal recessive, (3) [MIM: 212050]
CLEC7ACandidiasis, familial, 4, autosomal dominant [MIM: 613108]
IL17RACandidiasis, familial, 5, autosomal recessive [MIM: 613953]

87. Heterotaxy, visceral [306955]

GeneDisease
CFC1Heterotaxy, visceral, 2, autosomal [MIM: 605376]
ACVR2BHeterotaxy, visceral, 4, autosomal [MIM: 613751]
NODALHeterotaxy, visceral, 5 [MIM: 270100]
CCDC11Heterotaxy, visceral, 6, autosomal recessive [MIM: 614779]
ZIC3Heterotaxy, visceral, 1, X-linked [MIM: 306955]

88. Hypothyroidism, congenital, nongoitrous [275200]

GeneDisease
TSHBHypothryoidism, congenital, nongoitrous 4 [MIM: 275100]
PAX8Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia [MIM: 218700]
NKX2-5Hypothyroidism, congenital nongoitrous, 5 [MIM: 225250]
TSHRHypothyroidism, congenital, nongoitrous, 1 [MIM: 275200]
THRAHypothyroidism, congenital, nongoitrous, 6 [MIM: 614450]

89. Meier-Gorlin syndrome [224690]

GeneDisease
ORC1Meier-Gorlin syndrome 1 [MIM: 224690]
ORC4Meier-Gorlin syndrome 2 [MIM: 613800]
ORC6Meier-Gorlin syndrome 3 [MIM: 613803]
CDT1Meier-Gorlin syndrome 4 [MIM: 613804]
CDC6Meier-Gorlin syndrome 5 [MIM: 613805]

90. Melanoma, cutaneous malignant [155600]

GeneDisease
CDKN2A{Melanoma, cutaneous malignant, 2} [MIM: 155601]
PTENMalignant melanoma, somatic [MIM: 155600]
CDK4{Melanoma, cutaneous malignant, 3} [MIM: 609048]
XRCC3{Melanoma, cutaneous malignant, 6} [MIM: 613972]
MC1R{Melanoma, cutaneous malignant, 5} [MIM: 613099]

91. Neutropenia, severe congenital [202700]

GeneDisease
GFI1Neutropenia, severe congenital 2, autosomal dominant [MIM: 613107]
HAX1Neutropenia, severe congenital 3, autosomal recessive [MIM: 610738]
G6PC3Neutropenia, severe congenital 4, autosomal recessive [MIM: 612541]
ELANENeutropenia, severe congenital 1, autosomal dominant [MIM: 202700]
WASNeutropenia, severe congenital, X-linked [MIM: 300299]

92. Paragangliomas [168000]

GeneDisease
SDHBParagangliomas 4 [MIM: 115310]
SDHCParagangliomas 3 [MIM: 605373]
SDHAParagangliomas 5 [MIM: 614165]
SDHAF2Paragangliomas 2 [MIM: 601650]
SDHDParagangliomas 1, with or without deafness [MIM: 168000]

93. Seizures, familial febrile [121210]

GeneDisease
SCN1AFebrile seizures, familial, 3A [MIM: 604403]
SCN9AEpilepsy, generalized, with febrile seizures plus, type 7 [MIM: 613863]
GPR98Febrile seizures, familial, 4 [MIM: 604352]
GABRG2Epilepsy, generalized, with febrile seizures plus, type 3 [MIM: 611277]
CPA6Febrile seizures, familial, 11 [MIM: 614418]

94. Stickler syndrome [108300]

GeneDisease
COL9A2Stickler syndrome, type V [MIM: 614284]
COL11A1Stickler syndrome, type II [MIM: 604841]
COL11A2Stickler syndrome, type III [MIM: 184840]
COL9A1Stickler syndrome, type IV [MIM: 614134]
COL2A1Stickler syndrome, type I [MIM: 108300]

95. Tooth agenesis, selective [106600]

GeneDisease
WNT10ATooth agenesis, selective, 4 [MIM: 150400]
MSX1Tooth agenesis, selective, 1, with or without orofacial cleft [MIM: 106600]
LTBP3Tooth agenesis, selective, 6 [MIM: 613097]
PAX9Tooth agenesis, selective, 3 [MIM: 604625]
EDATooth agenesis, selective, X-linked 1 [MIM: 313500]

96. 3-Methylglutaconic aciduria [250950]

GeneDisease
DNAJC193-methylglutaconic aciduria, type V [MIM: 610198]
AUH3-methylglutaconic aciduria, type I [MIM: 250950]
OPA33-methylglutaconic aciduria, type III [MIM: 258501]
TAZBarth syndrome [MIM: 302060]

97. Bile acid synthesis defect, congenital [607765]

GeneDisease
AMACRBile acid synthesis defect, congenital, 4 [MIM: 214950]
AKR1D1Bile acid synthesis defect, congenital, 2 [MIM: 235555]
CYP7B1Bile acid synthesis defect, congenital, 3 [MIM: 613812]
HSD3B7Bile acid synthesis defect, congenital, 1 [MIM: 607765]

98. Breast-ovarian cancer, familial, susceptibility to [604370]

GeneDisease
BRCA2{Breast-ovarian cancer, familial, 2} [MIM: 612555]
RAD51D{Breast-ovarian cancer, familial, susceptibility to, 4} [MIM: 614291]
BRCA1{Breast-ovarian cancer, familial, 1} [MIM: 604370]
RAD51C{Breast-ovarian cancer, familial, susceptibility to, 3} [MIM: 613399]

99. Cerebrooculofacioskeletal syndrome [214150]

GeneDisease
ERCC6Cerebrooculofacioskeletal syndrome 1 [MIM: 214150]
ERCC5Xeroderma pigmentosum, group G [MIM: 278780]
ERCC2Cerebrooculofacioskeletal syndrome 2 [MIM: 610756]
ERCC1Cerebrooculofacioskeletal syndrome 4 [MIM: 610758]

100. Cranioectodermal dysplasia [218330]

GeneDisease
WDR35Cranioectodermal dysplasia 2 [MIM: 613610]
IFT122Cranioectodermal dysplasia 1 [MIM: 218330]
WDR19Cranioectodermal dysplasia 4 [MIM: 614378]
IFT43Cranioectodermal dysplasia 3 [MIM: 614099]

101. Encephalopathy, acute, infection-induced [601551]

GeneDisease
CPT2{Encephalopathy, acute, infection-induced, 4, susceptibility to} [MIM: 614212]
RANBP2{Encephalopathy, acute, infection-induced, 3, susceptibility to} [MIM: 608033]
TLR3Herpes simplex encephalitis, susceptibility to, 2 [MIM: 613002]
SLC4A1[Blood group, Froese] [MIM: 601551]

102. Epilepsy, nocturnal frontal lobe [600513]

GeneDisease
CHRNB2Epilepsy, nocturnal frontal lobe, 3 [MIM: 605375]
CHRNA2Epilepsy, nocturnal frontal lobe, type 4 [MIM: 610353]
KCNT1Epilepsy, nocturnal frontal lobe, 5 [MIM: 615005]
CHRNA4Epilepsy, nocturnal frontal lobe, 1 [MIM: 600513]

103. Episodic ataxia [160120]

GeneDisease
CACNB4Episodic ataxia, type 5 [MIM: 613855]
SLC1A3Episodic ataxia, type 6 [MIM: 612656]
KCNA1Episodic ataxia/myokymia syndrome [MIM: 160120]
CACNA1AEpisodic ataxia, type 2 [MIM: 108500]

104. Erythrocytosis, familial [133100]

GeneDisease
EGLN1Erythrocytosis, familial, 3 [MIM: 609820]
EPAS1Erythrocytosis, familial, 4 [MIM: 611783]
VHLErythrocytosis, familial, 2 [MIM: 263400]
JAK2Erythrocytosis, somatic [MIM: 133100]

105. Hirschsprung disease [142623]

GeneDisease
GDNF{Hirschsprung disease, susceptibility to, 3} [MIM: 613711]
RET{Hirschsprung disease, susceptibility to, 1} [MIM: 142623]
EDNRB{Hirschsprung disease, susceptibility to, 2} [MIM: 600155]
EDN3{Hirschsprung disease, susceptibility to, 4} [MIM: 613712]

106. Immunodeficiency with hyper-IgM [308230]

GeneDisease
AICDAImmunodeficiency with hyper-IgM, type 2 [MIM: 605258]
UNGImmunodeficiency with hyper IgM, type 5 [MIM: 608106]
CD40Immunodeficiency with hyper-IgM, type 3 [MIM: 606843]
CD40LGImmunodeficiency, X-linked, with hyper-IgM [MIM: 308230]

107. Lethal congenital contracture syndrome [253310]

GeneDisease
GLE1Lethal congenital contracture syndrome 1 [MIM: 253310]
ERBB3Lethal congenital contractural syndrome 2 [MIM: 607598]
MYBPC1Lethal congenital contracture syndrome 4 [MIM: 614915]
PIP5K1CLethal congenital contractural syndrome 3 [MIM: 611369]

108. Lipodystrophy, congenital generalized [608594]

GeneDisease
CAV1Lipodystrophy, congenital generalized, type 3 [MIM: 612526]
AGPAT2Lipodystrophy, congenital generalized, type 1 [MIM: 608594]
BSCL2Lipodystrophy, congenital generalized, type 2 [MIM: 269700]
PTRFLipodystrophy, congenital generalized, type 4 [MIM: 613327]

109. Loeys-Dietz syndrome [609192]

GeneDisease
TGFB2Loeys-Dietz syndrome, type 4 [MIM: 614816]
TGFBR2Loeys-Dietz syndrome, type 1B [MIM: 610168]
TGFBR1Loeys-Dietz syndrome, type 1A [MIM: 609192]
SMAD3Loeys-Dietz syndrome, type 3 [MIM: 613795]

110. Mental retardation, nonsyndromic, X-linked [309530]

GeneDisease
FTSJ1Mental retardation, X-linked 9 [MIM: 309549]
IQSEC2Mental retardation, X-linked 1 [MIM: 309530]
HSD17B10Mental retardation, X-linked 17/31, microduplication [MIM: 300705]
HCFC1Mental retardation, X-linked 3 [MIM: 309541]

111. Microphthalmia, isolated, with coloboma [300345]

GeneDisease
ABCB6Microphthalmia, isolated, with coloboma 7 [MIM: 614497]
SHHMicrophthalmia with coloboma 5 [MIM: 611638]
GDF6Microphthalmia with coloboma 6, digenic [MIM: 613703]
VSX2Microphthalmia with coloboma 3 [MIM: 610092]

112. Myopathy, centronuclear [160150]

GeneDisease
BIN1Myopathy, centronuclear, autosomal recessive [MIM: 255200]
MTMR14{Centronuclear myopathy, autosomal, modifier of} [MIM: 160150]
MYF6Myopathy, centronuclear, 3 [MIM: 614408]
CCDC78Myopathy, centronuclear, 4 [MIM: 614807]

113. Nail disorder, nonsyndromic congenital [161050]

GeneDisease
PLCD1Nail disorder, nonsyndromic congenital, 3, (leukonychia) [MIM: 151600]
COL7A1Toenail dystrophy, isolated [MIM: 607523]
FZD6Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails) [MIM: 614157]
RSPO4Anonychia congenita [MIM: 206800]

114. Neurodegeneration with brain iron accumulation [234200]

GeneDisease
C19orf12Neurodegeneration with brain iron accumulation 4 [MIM: 614298]
FTLNeurodegeneration with brain iron accumulation 3 [MIM: 606159]
PANK2Neurodegeneration with brain iron accumulation 1 [MIM: 234200]
PLA2G6Infantile neuroaxonal dystrophy 1 [MIM: 256600]

115. Oculocutaneous albinism [203100]

GeneDisease
SLC45A2Oculocutaneous albinism, type IV [MIM: 606574]
TYRP1Albinism, oculocutaneous, type III [MIM: 203290]
TYRAlbinism, oculocutaneous, type IB [MIM: 606952]
OCA2Albinism, brown oculocutaneous [MIM: 203200]

116. Pseudohypoaldosteronism, type II [145260]

GeneDisease
CUL3Pseudohypoaldosteronism, type IIE [MIM: 614496]
KLHL3Pseudohypoaldosteronism, type IID [MIM: 614495]
WNK1Pseudohypoaldosteronism, type IIC [MIM: 614492]
WNK4Pseudohypoaldosteronism, type IIB [MIM: 614491]

117. Split-hand/foot malformation [183600]

GeneDisease
TP63Split-hand/foot malformation 4 [MIM: 605289]
SHFM1Split hand/foot malformation 1 [MIM: 183600]
DLX5Split-hand/foot malformation 1 with sensorineural hearing loss [MIM: 220600]
WNT10BSplit-hand/foot malformation 6 [MIM: 225300]

118. Spondylocostal dysostosis [277300]

GeneDisease
LFNGSpondylocostal dysostosis, autosomal recessive 3 [MIM: 609813]
MESP2Spondylocostal dysostosis, autosomal recessive 2 [MIM: 608681]
HES7Spondylocostal dysostosis 4, autosomal recessive [MIM: 613686]
DLL3Spondylocostal dysostosis, autosomal recessive, 1 [MIM: 277300]

119. Sufactant metabolism dysfunction, pulmonary [265120]

GeneDisease
SFTPBSurfactant metabolism dysfunction, pulmonary, 1 [MIM: 265120]
SFTPCSurfactant metabolism dysfunction, pulmonary, 2 [MIM: 610913]
ABCA3Surfactant metabolism dysfunction, pulmonary, 3 [MIM: 610921]
CSF2RBSurfactant metabolism dysfunction, pulmonary, 5 [MIM: 614370]

120. Thiamine-responsive dysfunction syndrome [249270]

GeneDisease
SLC19A2Thiamine-responsive megaloblastic anemia syndrome [MIM: 249270]
SLC19A3Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) [MIM: 607483]
TPK1Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [MIM: 614458]
SLC25A19Microcephaly, Amish type [MIM: 607196]

121. Achondrogenesis [200600]

GeneDisease
SLC26A2Achondrogenesis Ib [MIM: 600972]
COL2A1Achondrogenesis, type II or hypochondrogenesis [MIM: 200610]
TRIP11Achondrogenesis, type IA [MIM: 200600]

122. Acne inversa [142690]

GeneDisease
NCSTNAcne inversa, familial, 1 [MIM: 142690]
PSEN1Acne inversa, familial, 3 [MIM: 613737]
PSENENAcne inversa, familial, 2 [MIM: 613736]

123. Adams-Oliver syndrome [100300]

GeneDisease
ARHGAP31Adams-Oliver syndrome 1 [MIM: 100300]
RBPJAdams-Oliver syndrome 3 [MIM: 614814]
DOCK6Adams-Oliver syndrome 2 [MIM: 614219]

124. Atrioventricular septal defect [606215]

GeneDisease
CRELD1Atrioventricular septal defect, partial, with heterotaxy syndrome [MIM: 606217]
GJA1Atrioventricular septal defect 3 [MIM: 600309]
GATA4Atrioventricular septal defect 4 [MIM: 614430]

125. Bronchiectasis [211400]

GeneDisease
CFTR{Bronchiectasis with or without elevated sweat chloride 1, modifier of} [MIM: 211400]
SCNN1ABronchiectasis with or without elevated sweat chloride 2 [MIM: 613021]
SCNN1GBronchiectasis with or without elevated sweat chloride 3 [MIM: 613071]

126. Celiac disease [212750]

GeneDisease
CTLA4{Celiac disease, susceptibility to, 3} [MIM: 609755]
HLA-DQA1{Celiac disease, susceptibility to} [MIM: 212750]
MYO9B{Celiac disease, susceptibility to, 4} [MIM: 609753]

127. Corneal dystrophy, Fuchs endothelial [136800]

GeneDisease
COL8A2Corneal dystrophy, Fuchs endothelial, 1 [MIM: 136800]
ZEB1Corneal dystrophy, Fuchs endothelial, 6 [MIM: 613270]
SLC4A11Corneal dystrophy, Fuchs endothelial, 4 [MIM: 613268]

128. Corneal dystrophy, posterior polymorphous [122000]

GeneDisease
COL8A2Corneal dystrophy polymorphous posterior, 2 [MIM: 609140]
ZEB1Corneal dystrophy, posterior polymorphous, 3 [MIM: 609141]
VSX1Corneal dystrophy, hereditary polymorphous posterior [MIM: 122000]

129. Familial cold autoinflammatory syndrome [120100]

GeneDisease
NLRP3Cold-induced autoinflammatory syndrome, familial [MIM: 120100]
PLCG2Familial cold autoinflammatory syndrome 3 [MIM: 614468]
NLRP12Familial cold autoinflammatory syndrome 2 [MIM: 611762]

130. Frontonasal dysplasia [136760]

GeneDisease
ALX3Frontonasal dysplasia 1 [MIM: 136760]
ALX4Frontonasal dysplasia 2 [MIM: 613451]
ALX1Frontonasal dysplasia 3 [MIM: 613456]

131. Hyperbilirubinemia [237450]

GeneDisease
UGT1A1Crigler-Najjar syndrome, type I [MIM: 218800]
ABCC2Dubin-Johnson syndrome [MIM: 237500]
SLCO1B3Hyperbilirubinemia, Rotor type, digenic [MIM: 237450]

132. Hyperoxaluria, primary [259900]

GeneDisease
AGXTHyperoxaluria, primary, type 1 [MIM: 259900]
GRHPRHyperoxaluria, primary, type II [MIM: 260000]
HOGA1Hyperoxaluria, primary, type III [MIM: 613616]

133. Klippel-Feil syndrome [118100]

GeneDisease
GDF6Klippel-Feil syndrome 1, autosomal dominant [MIM: 118100]
GDF3Klippel-Feil syndrome 3, autosomal dominant [MIM: 613702]
MEOX1Klippel-Feil syndrome 2 [MIM: 214300]

134. LEOPARD syndrome [151100]

GeneDisease
RAF1LEOPARD syndrome 2 [MIM: 611554]
BRAFLEOPARD syndrome 3 [MIM: 613707]
PTPN11LEOPARD syndrome 1 [MIM: 151100]

135. Lipodystrophy, familial partial [151660]

GeneDisease
LMNALipodystrophy, familial partial, 2 [MIM: 151660]
PPARGInsulin resistance, severe, digenic [MIM: 604367]
PLIN1Lipodystrophy, familial partial, type 4 [MIM: 613877]

136. Multiple synostoses syndrome [186500]

GeneDisease
FGF9Multiple synostoses syndrome 3 [MIM: 612961]
NOGMultiple synostosis syndrome 1 [MIM: 186500]
GDF5Multiple synostoses syndrome 2 [MIM: 610017]

137. Optic atrophy [165500]

GeneDisease
OPA1Optic atrophy 1 [MIM: 165500]
TMEM126AOptic atrophy-7 [MIM: 612989]
OPA3Optic atrophy 3 with cataract [MIM: 165300]

138. Ovarian dysgenesis [233300]

GeneDisease
FSHROvarian dysgenesis 1 [MIM: 233300]
PSMC3IPOvarian dysgenesis 3 [MIM: 614324]
BMP15Premature ovarian failure 4 [MIM: 300510]

139. Preeclampsia/eclampsia [189800]

GeneDisease
EPHX1{Preeclampsia, susceptibility to} [MIM: 189800]
CORINPreeclampsia/eclampsia 5 [MIM: 614595]
STOX1Preeclampsia/eclampsia 4 [MIM: 609404]

140. Sick sinus syndrome [608567]

GeneDisease
SCN5ASick sinus syndrome 1 [MIM: 608567]
MYH6{Sick sinus syndrome 3} [MIM: 614090]
HCN4Sick sinus syndrome 2 [MIM: 163800]

141. Spastic ataxia [108600]

GeneDisease
MTPAPAtaxia, spastic, 4 [MIM: 613672]
SACSSpastic ataxia, Charlevoix-Saguenay type [MIM: 270550]
AFG3L2Ataxia, spastic, 5, autosomal recessive [MIM: 614487]

142. Three M syndrome [273750]

GeneDisease
OBSL13-M syndrome 2 [MIM: 612921]
CUL73-M syndrome 1 [MIM: 273750]
CCDC8Three M syndrome 3 [MIM: 614205]

143. Thrombocythemia [187950]

GeneDisease
MPLThrombocythemia 2 [MIM: 601977]
THPOThrombocythemia 1 [MIM: 187950]
JAK2Thrombocythemia 3 [MIM: 614521]

144. Transposition of the great arteries, dextro-looped [608808]

GeneDisease
CFC1Transposition of the great arteries, dextro-looped 2 [MIM: 613853]
MED13LTransposition of the great arteries, dextro-looped 1 [MIM: 608808]
GDF1Transposition of great arteries, dextro-looped 3 [MIM: 613854]

145. Treacher Collins syndrome [154500]

GeneDisease
TCOF1Treacher Collins syndrome 1 [MIM: 154500]
POLR1CTreacher Collins syndrome 3 [MIM: 248390]
POLR1DTreacher Collins syndrome 2 [MIM: 613717]

146. UV-sensitive syndrome [600630]

GeneDisease
UVSSAUV-sensitive syndrome 3 [MIM: 614640]
ERCC8UV-sensitive syndrome 2 [MIM: 614621]
ERCC6UV-sensitive syndrome 1 [MIM: 600630]

147. Ventricular septal defect [614429]

GeneDisease
NKX2-5Ventricular septal defect 3 [MIM: 614432]
CITED2Ventricular septal defect 2 [MIM: 614431]
GATA4Ventricular septal defect 1 [MIM: 614429]

148. Ventricular tachycardia, catecholaminergic polymorphic [604772]

GeneDisease
CASQ2Ventricular tachycardia, catecholaminergic polymorphic, 2 [MIM: 611938]
RYR2Ventricular tachycardia, catecholaminergic polymorphic, 1 [MIM: 604772]
CALM1Ventricular tachycardia, catecholaminergic polymorphic, 4 [MIM: 614916]

149. Warburg micro syndrome [600118]

GeneDisease
RAB3GAP2Warburg micro syndrome 2 [MIM: 614225]
RAB3GAP1Warburg micro syndrome 1 [MIM: 600118]
RAB18Warburg micro syndrome 3 [MIM: 614222]

150. Weill-Marchesani syndrome [277600]

GeneDisease
LTBP2Weill-Marchesani syndrome 3 [MIM: 614819]
FBN1Weill-Marchesani syndrome 2, dominant [MIM: 608328]
ADAMTS10Weill-Marchesani syndrome 1, recessive [MIM: 277600]

151. 3MC syndrome [257920]

GeneDisease
COLEC113MC syndrome 2 [MIM: 265050]
MASP13MC syndrome 1 [MIM: 257920]

152. Acrodysostosis [101800]

GeneDisease
PDE4DAcrodysostosis 2, with or without hormone resistance [MIM: 614613]
PRKAR1AAcrodysostosis 1, with or without hormone resistance [MIM: 101800]

153. Alagille syndrome [118450]

GeneDisease
NOTCH2Alagille syndrome 2 [MIM: 610205]
JAG1Alagille syndrome [MIM: 118450]

154. Alternating hemiplegia of childhood [104290]

GeneDisease
ATP1A2Alternating hemiplegia of childhood [MIM: 104290]
ATP1A3Alternating hemiplegia of childhood 2 [MIM: 614820]

155. Amyloidosis, primary localized cutaneous [105250]

GeneDisease
OSMRAmyloidosis, primary localized cutaneous, 1 [MIM: 105250]
IL31RAAmyloidosis, primary localized cutaneous, 2 [MIM: 613955]

156. Aortic valve disease [109730]

GeneDisease
NOTCH1Aortic valve disease [MIM: 109730]
SMAD6Aortic valve disease 2 [MIM: 614823]

157. Arthrogryposis, renal dysfunction, and cholestasis [208085]

GeneDisease
VIPAS39Arthrogryposis, renal dysfunction, and cholestasis 2 [MIM: 613404]
VPS33BArthrogryposis, renal dysfunction, and cholestasis 1 [MIM: 208085]

158. Asperger syndrome, susceptibility to [608638]

GeneDisease
NLGN4X{Asperger syndrome susceptibility, X-linked 2} [MIM: 300497]
NLGN3{Asperger syndrome susceptibility, X-linked 1} [MIM: 300494]

159. Atelosteogenesis [108720]

GeneDisease
FLNBAtelosteogenesis, type III [MIM: 108721]
SLC26A2Atelosteogenesis II [MIM: 256050]

160. Auditory neuropathy [609129]

GeneDisease
OTOFDeafness, autosomal recessive 9 [MIM: 601071]
DIAPH3Auditory neuropathy, autosomal dominant, 1 [MIM: 609129]

161. Auriculocondylar syndrome [602483]

GeneDisease
GNAI3Auriculocondylar syndrome 1 [MIM: 602483]
PLCB4Auriculocondylar syndrome 2 [MIM: 614669]

162. Baraitser-Winter syndrome [243310]

GeneDisease
ACTBBaraitser-Winter syndrome 2 [MIM: 243310]
ACTG1Baraitser-Winter syndrome 2 [MIM: 614583]

163. Basal ganglia calcification, idiopathic [213600]

GeneDisease
PDGFRBBasal ganglia calcification, idiopathic, 4 [MIM: 615007]
SLC20A2Basal ganglia cancification, idiopathic, 3 [MIM: 614540]

164. Brittle cornea syndrome [229200]

GeneDisease
PRDM5Brittle cornea syndrome 2 [MIM: 614170]
ZNF469Brittle cornea syndrome [MIM: 229200]

165. Brown-Vialetto-Van Laere syndrome [211530]

GeneDisease
SLC52A2Brown-Vialetto-Van Laere syndrome 2 [MIM: 614707]
SLC52A3Brown-Vialetto-Van Laere syndrome 1 [MIM: 211530]

166. Carpenter syndrome [201000]

GeneDisease
RAB23Carpenter syndrome [MIM: 201000]
MEGF8Carpenter syndrome 2 [MIM: 614976]

167. Chilblain lupus [610448]

GeneDisease
TREX1Chilblain lupus [MIM: 610448]
SAMHD1Chilblain lupus 2 [MIM: 614415]

168. Cowden disease [158350]

GeneDisease
SDHBCowden-like syndrome [MIM: 612359]
PTENLhermitte-Duclos syndrome [MIM: 158350]

169. Dent disease [300009]

GeneDisease
CLCN5Dent disease [MIM: 300009]
OCRLDent disease 2 [MIM: 300555]

170. Epilepsy, familial temporal lobe [600512]

GeneDisease
CPA6Epilepsy, familial temporal lobe, 5 [MIM: 614417]
LGI1Epilepsy, familial temporal lobe, 1 [MIM: 600512]

171. Familial restrictive cardiomyopathy [115210]

GeneDisease
TNNT2Cardiomyopathy, familial restrictive, 3 [MIM: 612422]
TNNI3Cardiomyopathy, familial restrictive [MIM: 115210]

172. Feingold syndrome [164280]

GeneDisease
MYCNFeingold syndrome [MIM: 164280]
MIR17HGFeingold syndrome 2 [MIM: 614326]

173. Fibrochondrogenesis [228520]

GeneDisease
COL11A1Fibrochondrogenesis [MIM: 228520]
COL11A2Fibrochondrogenesis 2 [MIM: 614524]

174. Focal facial dermal dysplasia [136500]

GeneDisease
TWIST2Focal facial dermal dysplasia 3, Setleis type [MIM: 227260]
CYP26C1Focal facial dermal dysplasia 4 [MIM: 614974]

175. Gallbladder disease [600803]

GeneDisease
ABCG8Gallbladder disease 4 [MIM: 611465]
ABCB4Gallbladder disease 1 [MIM: 600803]

176. Geleophysic dysplasia [231050]

GeneDisease
ADAMTSL2Geleophysic dysplasia 1 [MIM: 231050]
FBN1Geleophysic dysplasia 2 [MIM: 614185]

177. Generalized arterial calcification of infancy [208000]

GeneDisease
ENPP1Arterial calcification, generalized, of infancy, 1 [MIM: 208000]
ABCC6Arterial calcification, generalized, of infancy, 2 [MIM: 614473]

178. Hydrolethalus syndrome [236680]

GeneDisease
HYLS1Hydrolethalus syndrome [MIM: 236680]
KIF7Hydrolethalus syndrome 2 [MIM: 614120]

179. Hyperphosphatasia with mental retardation syndrome [239300]

GeneDisease
PIGVHyperphosphatasia with mental retardation syndrome 1 [MIM: 239300]
PIGOHyperphosphatasia with mental retardation syndrome 2 [MIM: 614749]

180. Hypertropic osteoarthropathy, primary [259100]

GeneDisease
SLCO2A1Hypertrophic osteoarthropathy, primary, autosomal recessive 2 [MIM: 614441]
HPGDHypertrophic osteoarthropathy, primary, autosomal recessive 1 [MIM: 259100]

181. Hypocalciuric hypercalcemia [145980]

GeneDisease
CASRHypocalciuric hypercalcemia, type I [MIM: 145980]
AP2S1Hypocalciuric hypercalcemia, familial, type III [MIM: 600740]

182. Hypoplastic left heart syndrome [241550]

GeneDisease
NKX2-5Hypoplastic left heart syndrome 2 [MIM: 614435]
GJA1Hypoplastic left heart syndrome 1 [MIM: 241550]

183. Hypospadias [300633]

GeneDisease
ARHypospadias 1, X-linked [MIM: 300633]
MAMLD1Hypospadias 2, X-linked [MIM: 300758]

184. Immunodeficiency-centromeric instability-facial anomalies [242860]

GeneDisease
ZBTB24Immunodeficiency-centromeric instability-facial anomalies syndrome-2 [MIM: 614069]
DNMT3BImmunodeficiency-centromeric instability-facial anomalies syndrome 1 [MIM: 242860]

185. Invasive pneumococcal disease, recurrent isolated [610799]

GeneDisease
TIRAP{Pneumococcal disease, invasive, protection against} [MIM: 610799]
IKBKGInvasive pneumococcal disease, recurrent isolated, 2 [MIM: 300640]

186. Kabuki syndrome [147920]

GeneDisease
KMT2DKabuki syndrome 1 [MIM: 147920]
KDM6AKabuki syndrome 2 [MIM: 300867]

187. Knobloch syndrome [267750]

GeneDisease
ADAMTS18Knobloch syndrome 2 [MIM: 608454]
COL18A1Knobloch syndrome, type 1 [MIM: 267750]

188. Leukoencephalopathy, megalencephalic [604004]

GeneDisease
HEPACAMMegalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation [MIM: 613926]
MLC1Megalencephalic leukoencephalopathy with subcortical cysts [MIM: 604004]

189. Li-Fraumeni syndrome [151623]

GeneDisease
TP53Li-Fraumeni syndrome [MIM: 151623]
CHEK2Li-Fraumeni syndrome [MIM: 609265]

190. Malignant hyperthermia [145600]

GeneDisease
CACNA1S{Malignant hyperthermia susceptibility 5} [MIM: 601887]
RYR1{Malignant hyperthermia susceptibility 1} [MIM: 145600]

191. Microphthalmia, isolated, with cataract [156850]

GeneDisease
SIX6Microphthalmia with cataract 2 [MIM: 212550]
CRYBA4Microphthalmia with cataract 4 [MIM: 610426]

192. Mirror movements [157600]

GeneDisease
RAD51Mirror movements 2 [MIM: 614508]
DCCMirror movements, congenital [MIM: 157600]

193. Miyoshi muscular dystrophy [254130]

GeneDisease
DYSFMiyoshi muscular dystrophy 1 [MIM: 254130]
ANO5Miyoshi muscular dystrophy 3 [MIM: 613319]

194. Mosaic variegated aneuploidy syndrome [257300]

GeneDisease
CEP57Mosaic variegated aneuploidy syndrome 2 [MIM: 614114]
BUB1BMosaic variegated aneuploidy syndrome 1 [MIM: 257300]

195. Moyamoya disease [252350]

GeneDisease
ACTA2Moyamoya disease 5 [MIM: 614042]
RNF213{Moyamoya disease 2, susceptibility to} [MIM: 607151]

196. Multiple congenital anomalies-hypotonia-seizures syndrome [614080]

GeneDisease
PIGNMultiple congenital anomalies-hypotonia-seizures syndrome 1 [MIM: 614080]
PIGAMultiple congenital anomalies-hypotonia-seizures syndrome 2 [MIM: 300868]

197. Multiple sclerosis, susceptibility to [126200]

GeneDisease
PDCD1{Multiple sclerosis, disease progression, modifier of} [MIM: 126200]
TNFRSF1A{Multiple sclerosis, susceptibility to, 5} [MIM: 614810]

198. Myotonic dystrophy [160900]

GeneDisease
CNBPMyotonic dystrophy 2 [MIM: 602668]
DMPKMyotonic dystrophy 1 [MIM: 160900]

199. Nephrolithiasis/osteoporosis, hypophosphatemic [612286]

GeneDisease
SLC34A1Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [MIM: 612286]
SLC9A3R1Nephrolithiasis/osteoporosis, hypophosphatemic, 2 [MIM: 612287]

200. Nystagmus, congenital [310700]

GeneDisease
GPR143Nystagmus 6, congenital, X-linked [MIM: 300814]
FRMD7Nystagmus, infantile periodic alternating, X-linked [MIM: 310700]

201. Osteopetrosis, autosomal dominant [607634]

GeneDisease
LRP5Osteopetrosis, autosomal dominant 1 [MIM: 607634]
CLCN7Osteopetrosis, autosomal dominant 2 [MIM: 166600]

202. Pachyonychia congenita [167200]

GeneDisease
KRT6BPachyonychia congenita, Jackson-Lawler type [MIM: 167210]
KRT6APachyonychia congenita, Jadassohn-Lewandowsky type [MIM: 167200]

203. Perrault syndrome [233400]

GeneDisease
HSD17B4Perrault syndrome [MIM: 233400]
HARS2Perrault syndrome 2 [MIM: 614926]

204. Porencephaly [175780]

GeneDisease
COL4A1Porencephaly 1 [MIM: 175780]
COL4A2Porencephaly 2 [MIM: 614483]

205. Progressive familial heart block [113900]

GeneDisease
SCN5AHeart block, progressive, type IA [MIM: 113900]
TRPM4Progressive familial heart block, type IB [MIM: 604559]

206. Sclerosteosis [269500]

GeneDisease
LRP4Sclerosteosis 2 [MIM: 614305]
SOSTSclerosteosis [MIM: 269500]

207. Seizures, benign familial infantile [601764]

GeneDisease
SCN2ASeizures, benign familial infantile, 3 [MIM: 607745]
PRRT2Seizures, benign familial infantile, 2 [MIM: 605751]

208. Seizures, benign familial neonatal [121200]

GeneDisease
KCNQ3Seizures, benign neonatal, type 2 [MIM: 121201]
KCNQ2Seizures, benign neonatal, 1 [MIM: 121200]

209. Sotos syndrome [117550]

GeneDisease
NSD1Sotos syndrome 1 [MIM: 117550]
NFIXSotos syndrome 2 [MIM: 614753]

210. Spastic quadriplegic cerebral palsy [603513]

GeneDisease
GAD1Cerebral palsy, spastic quadriplegic, 1 [MIM: 603513]
KANK1Cerebral palsy, spastic quadriplegic, 2 [MIM: 612900]

211. Tremor, hereditary essential [190300]

GeneDisease
DRD3{Essential tremor, susceptibility to} [MIM: 190300]
FUSTremor, hereditary essential, 4 [MIM: 614782]

212. Trichohepatoenteric syndrome [222470]

GeneDisease
TTC37Trichohepatoenteric syndrome 1 [MIM: 222470]
SKIV2LTrichohepatoenteric syndrome 2 [MIM: 614602]

213. Trigonocephaly, isolated [190440]

GeneDisease
FGFR1Trigonocephaly 1 [MIM: 190440]
FREM1Trigonocephaly 2 [MIM: 614485]

214. Vesicoureteral reflux [193000]

GeneDisease
ROBO2Vesicoureteral reflux 2 [MIM: 610878]
SOX17Vesicoureteral reflux 3 [MIM: 613674]

215. Weaver syndrome [277590]

GeneDisease
NSD1Weaver syndrome [MIM: 277590]
EZH2Weaver syndrome 2 [MIM: 614421]

216. Alopecia, isolated [203655]

GeneDisease
HRAlopecia universalis [MIM: 203655]

217. Choroidal dystrophy, central areolar [215500]

GeneDisease
PRPH2Choriodal dystrophy, central areolar 2 [MIM: 613105]

218. Corneal endothelial dystrophy [121700]

GeneDisease
SLC4A11Corneal endothelial dystrophy 2, autosomal recessive [MIM: 217700]

219. Dermatitis, atopic [603165]

GeneDisease
FLG{Dermatitis, atopic, susceptibility to, 2} [MIM: 605803]

220. Duane retraction syndrome [126800]

GeneDisease
CHN1Duane retraction syndrome 2 [MIM: 604356]

221. Ectodermal dysplasia-syndactyly syndrome [613573]

GeneDisease
PVRL4Ectodermal dysplasia-syndactyly syndrome 1 [MIM: 613573]

222. Episodic kinesigenic dyskinesia [128200]

GeneDisease
PRRT2Episodic kinesigenic dyskinesia 1 [MIM: 128200]

223. Facial paresis, hereditary congenital [601471]

GeneDisease
HOXB1Facial paresis, hereditary congenital, 3 [MIM: 614744]

224. Gingival fibromatosis [135300]

GeneDisease
SOS1Fibromatosis, gingival [MIM: 135300]

225. Glomerulopathy with fibronectin deposits [137950]

GeneDisease
FN1Glomerulopathy with fibronectin deposits 2 [MIM: 601894]

226. Glut1 deficiency syndrome [606777]

GeneDisease
SLC2A1GLUT1 deficiency syndrome 2 [MIM: 612126]

227. Goiter, multinodular [138800]

GeneDisease
DICER1Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors [MIM: 138800]

228. Keratoconus [148300]

GeneDisease
VSX1Keratoconus 1 [MIM: 148300]

229. Multiple mitochondrial dysfunctions syndrome [605711]

GeneDisease
NFU1Multiple mitochondrial dysfunctions syndrome 1 [MIM: 605711]

230. Porokeratosis [175800]

GeneDisease
SART3Porokeratosis, disseminated superficial actinic, 1 [MIM: 175900]

231. Rubinstein-Taybi syndrome [180849]

GeneDisease
CREBBPRubinstein-Taybi syndrome [MIM: 180849]

232. Spondyloarthropathy, susceptibility to [106300]

GeneDisease
HLA-B{Spondyloarthropathy, susceptibility to, 1} [MIM: 106300]

233. Urofacial syndrome [236730]

GeneDisease
HPSE2Urofacial syndrome [MIM: 236730]