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
REST
(HGNC:9966)
hereditary gingival fibromatosis
(MONDO_0016070)
 Strong
RERE
(HGNC:9965)
neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
(MONDO_0014857)
 Strong
RELN
(HGNC:9957)
lissencephaly with cerebellar hypoplasia
(MONDO_0019450)
 Strong
DPF2
(HGNC:9964)
Coffin-Siris syndrome
(MONDO_0015452)
 Strong
RELN
(HGNC:9957)
autosomal dominant epilepsy with auditory features
(MONDO_0010898)
 Strong
RELN
(HGNC:9957)
ankylosing spondylitis
(MONDO_0005306)
 Limited
RECQL5
(HGNC:9950)
coronary artery disorder
(MONDO_0005010)
 Limited
RECQL5
(HGNC:9950)
breast cancer
(MONDO_0007254)
 Limited
RECQL4
(HGNC:9949)
Rothmund-Thomson syndrome
(MONDO_0010002)
 Definitive
RECQL4
(HGNC:9949)
rapadilino syndrome
(MONDO_0009955)
 Strong
RECQL4
(HGNC:9949)
osteosarcoma
(MONDO_0009807)
 Strong
RECQL4
(HGNC:9949)
Baller-Gerold syndrome
(MONDO_0009039)
 Moderate
RECQL
(HGNC:9948)
hereditary breast carcinoma
(MONDO_0016419)
 Limited
RECQL
(HGNC:9948)
breast cancer
(MONDO_0007254)
 Disputed
PRPH2
(HGNC:9942)
multifocal pattern dystrophy simulating fundus flavimaculatus
(MONDO_0020382)
 Strong
PRPH2
(HGNC:9942)
retinitis pigmentosa
(MONDO_0019200)
 Definitive
PRPH2
(HGNC:9942)
inherited retinal dystrophy
(MONDO_0019118)
 Definitive
PRPH2
(HGNC:9942)
cone-rod dystrophy
(MONDO_0015993)
 Strong
PRPH2
(HGNC:9942)
Leber congenital amaurosis
(MONDO_0018998)
 Strong
PRPH2
(HGNC:9942)
retinitis punctata albescens
(MONDO_0018877)
 Limited
Showing 121–140 of 6681