DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE I ×

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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:	C0342727
Disease:	3-@METHYLGLUTACONIC ACIDURIA, TYPE I

3-@METHYLGLUTACONIC ACIDURIA, TYPE I

disease

0.750

definitive

1.000

1982

2017

Entrez Id:	8029
Gene Symbol:	CUBN

CUBN

cubilin

0.587

0.769

4.6E-42

CUI:	C0342727
Disease:	3-@METHYLGLUTACONIC ACIDURIA, TYPE I

3-@METHYLGLUTACONIC ACIDURIA, TYPE I

disease

0.020

None

1.000

0

1998

2004