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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
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)
|
Strong
|
|
|
GJB6
(HGNC:4288)
|
Clouston syndrome
(MONDO_0007510)
|
Strong
|
|
|
GJB3
(HGNC:4285)
|
erythrokeratodermia variabilis
(MONDO_0017851)
|
Moderate
|
|
|
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
|
|
|
GFAP
(HGNC:4235)
|
Alexander disease
(MONDO_0008752)
|
Definitive
|
|
|
GBE1
(HGNC:4180)
|
glycogen storage disease due to glycogen branching enzyme deficiency
(MONDO_0009292)
|
Definitive
|
|