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
COQ2
(HGNC:25223)
multiple system atrophy
(MONDO_0007803)
 Disputed
MMADHC
(HGNC:25221)
methylmalonic aciduria and homocystinuria type cblD
(MONDO_0010185)
 Strong
SLC25A46
(HGNC:25198)
pontocerebellar hypoplasia type 1
(MONDO_0016396)
 Limited
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)
 Strong
CTNS
(HGNC:2518)
ocular cystinosis
(MONDO_0009064)
 Moderate
CTNND1
(HGNC:2515)
blepharocheilodontic syndrome
(MONDO_0007339)
 Strong
CTNND2
(HGNC:2516)
neurodevelopmental disorder
(MONDO_0700092)
 Strong
CTNNB1
(HGNC:2514)
exudative vitreoretinopathy
(MONDO_0019516)
 Strong
HOGA1
(HGNC:25155)
primary hyperoxaluria type 3
(MONDO_0013327)
 Strong
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)
 Strong
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)
 Moderate
CTNNA3
(HGNC:2511)
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
 Limited
BOD1
(HGNC:25114)
intellectual disability
(MONDO_0001071)
 Limited
Showing 2381–2400 of 6699