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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
TRPM4
(HGNC:17993)
Brugada syndrome
(MONDO_0015263)
 Limited
FKRP
(HGNC:17997)
muscular dystrophy-dystroglycanopathy type B5
(MONDO_0011688)
 Definitive
FKRP
(HGNC:17997)
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
 Strong
EXOSC3
(HGNC:17944)
pontocerebellar hypoplasia type 1
(MONDO_0016396)
 Definitive
TRPM4
(HGNC:17993)
erythrokeratodermia variabilis
(MONDO_0017851)
 Moderate
B3GALT6
(HGNC:17978)
spondyloepimetaphyseal dysplasia with joint laxity
(MONDO_0019675)
 Strong
CDKN2A
(HGNC:1787)
melanoma, cutaneous malignant, susceptibility to, 2
(MONDO_0007964)
 Definitive
SLC22A12
(HGNC:17989)
hereditary renal hypouricemia
(MONDO_0009071)
 Definitive
REEP2
(HGNC:17975)
hereditary spastic paraplegia
(MONDO_0019064)
 Moderate
PGAP2
(HGNC:17893)
hyperphosphatasia-intellectual disability syndrome
(MONDO_0016596)
 Strong
PSMC3IP
(HGNC:17928)
46 XX gonadal dysgenesis
(MONDO_0009299)
 Limited
CDKN2A
(HGNC:1787)
familial atypical multiple mole melanoma syndrome
(MONDO_0018453)
 Definitive
PGAP2
(HGNC:17893)
hyperphosphatasia with intellectual disability syndrome 3
(MONDO_0013628)
 Strong
CDKN2B
(HGNC:1788)
renal cell carcinoma
(MONDO_0005086)
 Moderate
GJC2
(HGNC:17494)
hereditary spastic paraplegia 44
(MONDO_0013179)
 Moderate
CDKN2A
(HGNC:1787)
melanoma-pancreatic cancer syndrome
(MONDO_0011713)
 Strong
CDKN2A
(HGNC:1787)
melanoma and neural system tumor syndrome
(MONDO_0007967)
 Moderate
DACT1
(HGNC:17748)
Townes-Brocks syndrome 2
(MONDO_0054582)
 Moderate
NMNAT1
(HGNC:17877)
Leber congenital amaurosis
(MONDO_0018998)
 Definitive
GJC2
(HGNC:17494)
hypomyelinating leukodystrophy 2
(MONDO_0012125)
 Strong
Showing 3041–3060 of 6681