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
SLC25A12
(HGNC:10982)
mitochondrial disease
(MONDO_0044970)
 Moderate
SLC25A13
(HGNC:10983)
citrin deficiency
(MONDO_0016602)
 Definitive
SLC25A12
(HGNC:10982)
developmental and epileptic encephalopathy, 39
(MONDO_0013056)
 Moderate
SLC25A13
(HGNC:10983)
neonatal intrahepatic cholestasis due to citrin deficiency
(MONDO_0011601)
 Definitive
BRAF
(HGNC:1097)
Noonan syndrome
(MONDO_0018997)
 Strong
SLC25A10
(HGNC:10980)
mitochondrial disease
(MONDO_0044970)
 Limited
BRAF
(HGNC:1097)
anaplastic astrocytoma
(MONDO_0016684)
 Limited
BRAF
(HGNC:1097)
Costello syndrome
(MONDO_0009026)
 Disputed
BRAF
(HGNC:1097)
cardiofaciocutaneous syndrome
(MONDO_0015280)
 Definitive
BRAF
(HGNC:1097)
Noonan syndrome with multiple lentigines
(MONDO_0007893)
 Moderate
SLC25A1
(HGNC:10979)
D,L-2-hydroxyglutaric aciduria
(MONDO_0014072)
 Strong
SLC25A1
(HGNC:10979)
mitochondrial disease
(MONDO_0044970)
 Strong
SLC24A4
(HGNC:10978)
amelogenesis imperfecta type 2
(MONDO_0015048)
 Strong
SLCO1B3
(HGNC:10961)
Rotor syndrome
(MONDO_0009379)
 Strong
SLC22A5
(HGNC:10969)
short QT syndrome
(MONDO_0000453)
 Limited
SLCO1B1
(HGNC:10959)
Rotor syndrome
(MONDO_0009379)
 Strong
SLCO2A1
(HGNC:10955)
hypertrophic osteoarthropathy, primary, autosomal recessive, 2
(MONDO_0013756)
 Strong
SLCO2A1
(HGNC:10955)
chronic enteropathy associated with SLCO2A1 gene
(MONDO_0018766)
 Definitive
SLC1A3
(HGNC:10941)
episodic ataxia type 6
(MONDO_0012982)
 Moderate
SLC1A4
(HGNC:10942)
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
(MONDO_0014725)
 Strong
Showing 4121–4140 of 6699