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
MYO5B
(HGNC:7603)
microvillus inclusion disease
(MONDO_0009635)
 Definitive
ASS1
(HGNC:758)
citrullinemia
(MONDO_0015991)
 Definitive
ASS1
(HGNC:758)
citrullinemia type I
(MONDO_0008988)
 Definitive
MYL2
(HGNC:7583)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Definitive
ASPA
(HGNC:756)
Canavan disease
(MONDO_0010079)
 Definitive
MYCN
(HGNC:7559)
neuroblastoma
(MONDO_0005072)
 Strong
MYB
(HGNC:7545)
adenoid cystic carcinoma
(MONDO_0004971)
 Strong
ASNS
(HGNC:753)
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
(MONDO_0014258)
 Strong
MMUT
(HGNC:7526)
methylmalonic acidemia
(MONDO_0002012)
 Definitive
MUC1
(HGNC:7508)
autosomal dominant medullary cystic kidney disease with or without hyperuricemia
(MONDO_0008264)
 Definitive
MUSK
(HGNC:7525)
congenital myasthenic syndrome
(MONDO_0018940)
 Strong
ASL
(HGNC:746)
argininosuccinic aciduria
(MONDO_0008815)
 Definitive
MTTP
(HGNC:7467)
abetalipoproteinemia
(MONDO_0008692)
 Definitive
MTM1
(HGNC:7448)
X-linked myotubular myopathy
(MONDO_0010683)
 Definitive
MSX1
(HGNC:7391)
tooth agenesis
(MONDO_0005486)
 Strong
ASAH1
(HGNC:735)
Farber lipogranulomatosis
(MONDO_0009218)
 Definitive
ASAH1
(HGNC:735)
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
(MONDO_0008045)
 Strong
MPV17
(HGNC:7224)
mitochondrial DNA depletion syndrome
(MONDO_0018158)
 Definitive
MOCS2
(HGNC:7193)
sulfite oxidase deficiency due to molybdenum cofactor deficiency
(MONDO_0020480)
 Definitive
MOCS1
(HGNC:7190)
sulfite oxidase deficiency due to molybdenum cofactor deficiency
(MONDO_0020480)
 Definitive
Showing 4501–4520 of 6699