DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Congenital myopathy (disorder) ×

Gene: HACD1 ×

Results per page

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:	9200
Gene Symbol:	HACD1

HACD1

3-hydroxyacyl-CoA dehydratase 1

0.539

0.846

1.3E-09

CUI:	C0270960
Disease:	Congenital myopathy (disorder)

Congenital myopathy (disorder)

group

0.320

moderate

1.000

0

2013

2017