Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		1.000 GeneticVariation UNIPROT New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 20807224

2011
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		1.000 GeneticVariation UNIPROT Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. 14517948

2003
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 GeneticVariation UNIPROT NKX2.5 mutations in patients with congenital heart disease. 14607454

2003
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 GeneticVariation UNIPROT NKX2.5 mutations in patients with tetralogy of fallot. 11714651

2001
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 GeneticVariation UNIPROT Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 10587520

1999
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation UNIPROT GATA4 loss-of-function mutations underlie familial tetralogy of fallot. 24000169

2013
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614

2010
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation UNIPROT Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. 21110066

2010
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation UNIPROT GATA4 mutations in 486 Chinese patients with congenital heart disease. 18672102

2009
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation UNIPROT Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. 11152664

2001
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.730 GeneticVariation UNIPROT Identification of GATA6 sequence variants in patients with congenital heart defects. 20581743

2010
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.730 GeneticVariation UNIPROT A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 20631719

2010
Entrez Id: 2657
Gene Symbol: GDF1
GDF1
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.710 GeneticVariation UNIPROT Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 17924340

2007