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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
SETX
(HGNC:445)
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
(MONDO_0018996)
 Definitive
GP9
(HGNC:4444)
Bernard-Soulier syndrome
(MONDO_0009276)
 Definitive
GPC3
(HGNC:4451)
Simpson-Golabi-Behmel syndrome
(MONDO_0010731)
 Definitive
GNRHR
(HGNC:4421)
hypogonadotropic hypogonadism
(MONDO_0018555)
 Definitive
GP1BA
(HGNC:4439)
platelet-type von Willebrand disease
(MONDO_0008332)
 Definitive
GLUD1
(HGNC:4335)
hyperinsulinism-hyperammonemia syndrome
(MONDO_0011717)
 Definitive
ALPL
(HGNC:438)
hypophosphatasia
(MONDO_0018570)
 Definitive
GLRA1
(HGNC:4326)
hereditary hyperekplexia
(MONDO_0021022)
 Definitive
GLRA1
(HGNC:4326)
hyperekplexia
(MONDO_0017658)
 Definitive
GLDC
(HGNC:4313)
glycine encephalopathy
(MONDO_0011612)
 Definitive
ALMS1
(HGNC:428)
Alstrom syndrome
(MONDO_0008763)
 Definitive
GDF5
(HGNC:4220)
acromesomelic dysplasia 2A
(MONDO_0008703)
 Strong
GHR
(HGNC:4263)
growth hormone insensitivity syndrome
(MONDO_0015892)
 Definitive
GCDH
(HGNC:4189)
glutaryl-CoA dehydrogenase deficiency
(MONDO_0009281)
 Definitive
GCH1
(HGNC:4193)
Parkinson disease
(MONDO_0005180)
 Moderate
GJB6
(HGNC:4288)
Clouston syndrome
(MONDO_0007510)
 Definitive
GJB3
(HGNC:4285)
erythrokeratodermia variabilis
(MONDO_0017851)
 Strong
GHR
(HGNC:4263)
Laron syndrome
(MONDO_0009877)
 Definitive
GH1
(HGNC:4261)
isolated congenital growth hormone deficiency
(MONDO_0000050)
 Definitive
GCH1
(HGNC:4193)
dystonia 5
(MONDO_0007495)
 Definitive
Showing 4621–4640 of 6681