Stats
Gene–disease association summaries
Gene–Disease Browser
Need updated, customized, evidence‑backed summaries?
Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
| 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
|
|