DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: 3-Methylglutaconic aciduria type 1 ×

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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

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	549
Gene Symbol:	AUH

AUH

AU RNA binding methylglutaconyl-CoA hydratase

0.686

0.346

8.0E-06

CUI:	C0342728
Disease:	3-Methylglutaconic aciduria type 1

3-Methylglutaconic aciduria type 1

disease

0.610

definitive

1.000

0

2002

2017