DisGeNET - a database of gene-disease associations

AUH, AU RNA binding methylglutaconyl-CoA hydratase, 549

N. diseases: 42; N. variants: 7

Disease: Dystonia ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.

2010

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.400

Biomarker

phenotype

HPO

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.400

Biomarker

phenotype

GENOMICS_ENGLAND