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
CCDC39
(HGNC:25244)
primary ciliary dyskinesia
(MONDO_0016575)
 Definitive
SGSM3
(HGNC:25228)
neurodevelopmental disorder
(MONDO_0700092)
 Moderate
COQ2
(HGNC:25223)
multiple system atrophy
(MONDO_0007803)
 Limited
MMADHC
(HGNC:25221)
methylmalonic aciduria and homocystinuria type cblD
(MONDO_0010185)
 Strong
SLC25A46
(HGNC:25198)
pontocerebellar hypoplasia type 1
(MONDO_0016396)
 Moderate
SLC25A46
(HGNC:25198)
Leigh syndrome
(MONDO_0009723)
 Moderate
CTNS
(HGNC:2518)
nephropathic infantile cystinosis
(MONDO_0018467)
 Definitive
CTNS
(HGNC:2518)
juvenile nephropathic cystinosis
(MONDO_0009066)
 Definitive
CTNS
(HGNC:2518)
ocular cystinosis
(MONDO_0009064)
 Moderate
CTNND1
(HGNC:2515)
blepharocheilodontic syndrome
(MONDO_0007339)
 Strong
CTNND2
(HGNC:2516)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
CTNNB1
(HGNC:2514)
exudative vitreoretinopathy
(MONDO_0019516)
 Strong
HOGA1
(HGNC:25155)
primary hyperoxaluria type 3
(MONDO_0013327)
 Definitive
CTNNB1
(HGNC:2514)
severe intellectual disability-progressive spastic diplegia syndrome
(MONDO_0014035)
 Definitive
LRSAM1
(HGNC:25135)
Charcot-Marie-Tooth disease axonal type 2P
(MONDO_0013753)
 Definitive
MARS2
(HGNC:25133)
mitochondrial disease
(MONDO_0044970)
 Limited
PKDCC
(HGNC:25123)
rhizomelic limb shortening with dysmorphic features
(MONDO_0032935)
 Limited
MARS2
(HGNC:25133)
combined oxidative phosphorylation defect type 25
(MONDO_0014636)
 Limited
MARS2
(HGNC:25133)
spastic ataxia 3
(MONDO_0012664)
 Limited
MTSS2
(HGNC:25094)
intellectual developmental disorder with ocular anomalies and distinctive facial features
(MONDO_0859303)
 Strong
Showing 2361–2380 of 6681