DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency ×

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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:	26275
Gene Symbol:	HIBCH

HIBCH

3-hydroxyisobutyryl-CoA hydrolase

0.700

0.500

2.6E-13

CUI:	C0342738
Disease:	Beta-Hydroxyisobutyryl CoA Deacylase Deficiency

Beta-Hydroxyisobutyryl CoA Deacylase Deficiency

disease

0.710

definitive

1.000

0

1982

2019