Stats
Gene–disease association summaries
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
|
|