Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4624
Gene Symbol: MYH6
MYH6 		0.600 Biomarker disease CTD_human Mutation in myosin heavy chain 6 causes atrial septal defect. 15735645 2005
Entrez Id: 4624
Gene Symbol: MYH6
MYH6 		0.600 GermlineCausalMutation disease ORPHANET Mutation in myosin heavy chain 6 causes atrial septal defect. 15735645 2005
Entrez Id: 4624
Gene Symbol: MYH6
MYH6 		0.600 Biomarker disease HPO
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		0.430 GeneticVariation disease BEFREE Aim of the present study was to screen a Moroccan population with ASDII for NKX2-5 variants and to assess risk factors that may contribute to emergence of the disorder. 27752029 2017
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		0.430 GermlineCausalMutation disease ORPHANET Ablation of Nkx2-5 at mid-embryonic stage results in premature lethality and cardiac malformation. 21285290 2011
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		0.430 Biomarker disease BEFREE We studied NKX2-5 with respect to the presence or absence of PFO in stroke patients. 19464101 2009
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		0.430 GermlineCausalMutation disease ORPHANET Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 15810002 2005
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		0.430 GeneticVariation disease BEFREE We sought to examine the importance of mutations in the cardiac transcription factor gene NKX2-5 in patients with an atrial septal defect (ASD), patent foramen ovale (PFO), or hypoplastic left heart syndrome (HLHS). 12798584 2003
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		0.430 Biomarker disease HPO
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		0.410 GeneticVariation disease BEFREE In an initial study of Australian subjects, we observed a weak association between GATA4 S377G and PFO/Stroke relative to Caucasian controls in whom ASD and PFO had been excluded (OR = 2.16; p = 0.02). 21673957 2011
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		0.410 GermlineCausalMutation disease ORPHANET A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect. 20347099 2010
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		0.410 GermlineCausalMutation disease ORPHANET Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 15810002 2005
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		0.410 GermlineCausalMutation disease ORPHANET GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. 12845333 2003
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		0.410 GeneticVariation disease CLINVAR
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.400 GermlineCausalMutation disease ORPHANET A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 20631719 2010
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.400 Biomarker disease HPO
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.310 GeneticVariation disease BEFREE Our results provide the first evidence of a pathogenic mutation in the ACTC1 3'UTR that may be associated with familial isolated ASDII. 27139165 2016
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.310 GermlineCausalMutation disease ORPHANET Alpha-cardiac actin mutations produce atrial septal defects. 17947298 2008
Entrez Id: 57057
Gene Symbol: TBX20
TBX20 		0.300 GermlineCausalMutation disease ORPHANET A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. 19762328 2010
Entrez Id: 7092
Gene Symbol: TLL1
TLL1 		0.300 GermlineCausalMutation disease ORPHANET Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. 18830233 2009
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1 		0.300 Biomarker disease CTD_human Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 16740914 2006
Entrez Id: 10370
Gene Symbol: CITED2
CITED2 		0.300 GermlineCausalMutation disease ORPHANET Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. 16287139 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.110 CausalMutation disease CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.110 GeneticVariation disease BEFREE Pulmonary valve stenosis and atrial septal defect, ostium secundum type, were significantly associated with the identification of a mutation in the PTPN11 gene. 17515436 2007
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671 2018