Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
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
Showing 4641–4660 of 6699