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
MNX1
(HGNC:4979)
neonatal diabetes mellitus
(MONDO_0016391)
 Moderate
RIPK4
(HGNC:496)
ectodermal dysplasia syndrome
(MONDO_0019287)
 Moderate
HLA-DRB1
(HGNC:4948)
systemic lupus erythematosus
(MONDO_0007915)
 Definitive
ANK3
(HGNC:494)
intellectual disability
(MONDO_0001071)
 Limited
ANK2
(HGNC:493)
neurodevelopmental disorder
(MONDO_0700092)
 Moderate
ANK2
(HGNC:493)
Brugada syndrome
(MONDO_0015263)
 Limited
ANK2
(HGNC:493)
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
 Disputed
ANK2
(HGNC:493)
cardiac arrhythmia, ankyrin-B-related
(MONDO_0010958)
 Moderate
ANK1
(HGNC:492)
hereditary spherocytosis type 1
(MONDO_0008447)
 Strong
ANK2
(HGNC:493)
long QT syndrome
(MONDO_0002442)
 Limited
SLC39A7
(HGNC:4927)
agammaglobulinemia
(MONDO_0015977)
 Strong
HK1
(HGNC:4922)
neurodevelopmental disorder with visual defects and brain anomalies
(MONDO_0032807)
 Moderate
HK1
(HGNC:4922)
Charcot-Marie-Tooth disease type 4G
(MONDO_0011534)
 Strong
ANGPTL3
(HGNC:491)
familial hypobetalipoproteinemia 2
(MONDO_0011505)
 Strong
HIRA
(HGNC:4916)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
HINT1
(HGNC:4912)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Definitive
HINT1
(HGNC:4912)
Gamstorp-Wohlfart syndrome
(MONDO_0007646)
 Definitive
HFE
(HGNC:4886)
cystic fibrosis
(MONDO_0009061)
 Limited
CFH
(HGNC:4883)
basal laminar drusen
(MONDO_0007472)
 Moderate
CFH
(HGNC:4883)
dense deposit disease
(MONDO_0019736)
 Moderate
Showing 1301–1320 of 6681