DisGeNET - a database of gene-disease associations

Abnormality of cardiovascular system morphology, C4049796

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	23414
Gene Symbol:	ZFPM2

ZFPM2

0.110

Biomarker

disease

BEFREE

Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations.

24769157

2015

Entrez Id:	2626
Gene Symbol:	GATA4

GATA4

0.110

Biomarker

disease

BEFREE

Furthermore, the mutation abolished the synergistic activation between HAND1 and GATA4, another crucial cardiac transcription factors that has been associated with various congenital cardiovascular malformations and DCM.

26581070

2016

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

0.110

Biomarker

disease

HPO

Entrez Id:	23414
Gene Symbol:	ZFPM2

ZFPM2

0.110

Biomarker

disease

HPO

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

0.110

Biomarker

disease

HPO

Entrez Id:	6662
Gene Symbol:	SOX9

SOX9

0.100

Biomarker

disease

HPO

Entrez Id:	54756
Gene Symbol:	IL17RD

IL17RD

0.100

Biomarker

disease

HPO

Entrez Id:	23512
Gene Symbol:	SUZ12

SUZ12

0.100

Biomarker

disease

HPO

Entrez Id:	389549
Gene Symbol:	FEZF1

FEZF1

0.100

Biomarker

disease

HPO

Entrez Id:	219844
Gene Symbol:	HYLS1

HYLS1

0.100

Biomarker

disease

HPO

Entrez Id:	54880
Gene Symbol:	BCOR

BCOR

0.100

Biomarker

disease

HPO

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

0.100

Biomarker

disease

HPO

Entrez Id:	2253
Gene Symbol:	FGF8

FGF8

0.100

Biomarker

disease

HPO

Entrez Id:	5830
Gene Symbol:	PEX5

PEX5

0.100

Biomarker

disease

HPO

Entrez Id:	72
Gene Symbol:	ACTG2

ACTG2

0.100

Biomarker

disease

HPO

Entrez Id:	54101
Gene Symbol:	RIPK4

RIPK4

0.100

Biomarker

disease

HPO

Entrez Id:	1123
Gene Symbol:	CHN1

CHN1

0.100

Biomarker

disease

HPO

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

0.100

Biomarker

disease

HPO

Entrez Id:	5915
Gene Symbol:	RARB

RARB

0.100

Biomarker

disease

HPO

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

0.100

Biomarker

disease

HPO

Entrez Id:	100288687
Gene Symbol:	DUX4

DUX4

0.100

Biomarker

disease

HPO

Entrez Id:	2483
Gene Symbol:	FRG1

FRG1

0.100

Biomarker

disease

HPO

Entrez Id:	9394
Gene Symbol:	HS6ST1

HS6ST1

0.100

Biomarker

disease

HPO

Entrez Id:	9915
Gene Symbol:	ARNT2

ARNT2

0.100

Biomarker

disease

HPO

Entrez Id:	55975
Gene Symbol:	KLHL7

KLHL7

0.100

Biomarker

disease

HPO