Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0344735
Disease: Partial atrioventricular canal
Partial atrioventricular canal 		0.400 GermlineCausalMutation ORPHANET GATA4 mutations in 486 Chinese patients with congenital heart disease. 18672102

2009
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0344735
Disease: Partial atrioventricular canal
Partial atrioventricular canal 		0.400 GermlineCausalMutation ORPHANET Spectrum of heart disease associated with murine and human GATA4 mutation. 17643447

2007
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0344735
Disease: Partial atrioventricular canal
Partial atrioventricular canal 		0.400 GermlineCausalMutation ORPHANET GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. 12845333

2003
Entrez Id: 7026
Gene Symbol: NR2F2
NR2F2
CUI: C0344735
Disease: Partial atrioventricular canal
Partial atrioventricular canal 		0.300 SusceptibilityMutation ORPHANET Rare variants in NR2F2 cause congenital heart defects in humans. 24702954

2014
Entrez Id: 78987
Gene Symbol: CRELD1
CRELD1
CUI: C0344735
Disease: Partial atrioventricular canal
Partial atrioventricular canal 		0.300 GermlineCausalMutation ORPHANET Novel CRELD1 gene mutations in patients with atrioventricular septal defect. 21080147

2010
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0344735
Disease: Partial atrioventricular canal
Partial atrioventricular canal 		0.300 GermlineCausalMutation ORPHANET Identification of GATA6 sequence variants in patients with congenital heart defects. 20581743

2010
Entrez Id: 78987
Gene Symbol: CRELD1
CRELD1
CUI: C0344735
Disease: Partial atrioventricular canal
Partial atrioventricular canal 		0.300 GermlineCausalMutation ORPHANET Molecular genetics of atrioventricular septal defects. 15096951

2004
Entrez Id: 78987
Gene Symbol: CRELD1
CRELD1
CUI: C0344735
Disease: Partial atrioventricular canal
Partial atrioventricular canal 		0.300 GermlineCausalMutation ORPHANET Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. 12632326

2003