Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
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
PRPH2
(HGNC:9942)
fundus albipunctatus
(MONDO_0007639)
 Disputed
PRPH2
(HGNC:9942)
central areolar choroidal dystrophy
(MONDO_0008982)
 Strong
Showing 141–160 of 6699