DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Congenital heart disease ×

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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:	2626
Gene Symbol:	GATA4

GATA4

GATA binding protein 4

0.458

0.846

0.49

CUI:	C0152021
Disease:	Congenital heart disease

Congenital heart disease

group

0.200

None

1.000

1998

2019

Entrez Id:	25
Gene Symbol:	ABL1

ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

0.432

0.923

1.00

CUI:	C0152021
Disease:	Congenital heart disease

Congenital heart disease

group

0.110

None

1.000

2017

Entrez Id:	282809
Gene Symbol:	POC1B

POC1B

POC1 centriolar protein B

0.705

0.385

3.0E-08

CUI:	C0152021
Disease:	Congenital heart disease

Congenital heart disease

group

0.100

None

1.000

2014

Entrez Id:	254359
Gene Symbol:	ZDHHC24

ZDHHC24

zinc finger DHHC-type containing 24

0.722

0.462

4.2E-04

CUI:	C0152021
Disease:	Congenital heart disease

Congenital heart disease

group

0.100

None

Entrez Id:	582
Gene Symbol:	BBS1

BBS1

Bardet-Biedl syndrome 1

0.593

0.692

3.4E-12

CUI:	C0152021
Disease:	Congenital heart disease

Congenital heart disease

group

0.100

None