Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

Over 2,000 gene–disease validation summaries are now available—no login required!

Browse Summaries

Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
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
GJB2
(HGNC:4284)
keratoderma hereditarium mutilans
(MONDO_0007422)
 Strong
GJB2
(HGNC:4284)
palmoplantar keratoderma-deafness syndrome
(MONDO_0007852)
 Moderate
GJB1
(HGNC:4283)
Charcot-Marie-Tooth disease X-linked dominant 1
(MONDO_0010549)
 Definitive
GJA5
(HGNC:4279)
familial atrial fibrillation
(MONDO_0018054)
 Moderate
GJA1
(HGNC:4274)
erythrokeratodermia variabilis
(MONDO_0017851)
 Moderate
GJA1
(HGNC:4274)
craniometaphyseal dysplasia
(MONDO_0015465)
 Moderate
GJA1
(HGNC:4274)
Hallermann-Streiff syndrome
(MONDO_0009318)
 Limited
GJA1
(HGNC:4274)
oculodentodigital dysplasia
(MONDO_0008111)
 Definitive
GJA1
(HGNC:4274)
autosomal dominant palmoplantar keratoderma and congenital alopecia
(MONDO_0007083)
 Moderate
GH1
(HGNC:4261)
isolated growth hormone deficiency type II
(MONDO_0008250)
 Strong
GGCX
(HGNC:4247)
pulmonary arterial hypertension
(MONDO_0015924)
 Limited
GGCX
(HGNC:4247)
body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
(MONDO_0012570)
 Limited
GFI1B
(HGNC:4238)
platelet storage pool deficiency
(MONDO_0008495)
 Strong
GDI1
(HGNC:4226)
non-syndromic X-linked intellectual disability
(MONDO_0019181)
 Limited
GDF6
(HGNC:4221)
multiple synostoses syndrome 4
(MONDO_0054752)
 Strong
GDF6
(HGNC:4221)
microphthalmia
(MONDO_0021129)
 Limited
GDF5
(HGNC:4220)
acromesomelic dysplasia 2B
(MONDO_0009231)
 Strong
GDF5
(HGNC:4220)
acromesomelic dysplasia 2C, Hunter-Thompson type
(MONDO_0008717)
 Limited
GDF5
(HGNC:4220)
proximal symphalangism
(MONDO_0008511)
 Strong
GDF5
(HGNC:4220)
brachydactyly type C
(MONDO_0007221)
 Definitive
Showing 1481–1500 of 6681