Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.400 Biomarker HPO

Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.400 Biomarker HPO

Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.400 Biomarker HPO

Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.190 Biomarker HPO

Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.170 Biomarker HPO

Entrez Id: 6910
Gene Symbol: TBX5
TBX5
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.150 Biomarker HPO

Entrez Id: 6910
Gene Symbol: TBX5
TBX5
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.150 CausalMutation CLINVAR

Entrez Id: 7092
Gene Symbol: TLL1
TLL1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.140 Biomarker HPO

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.130 Biomarker HPO

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.120 Biomarker HPO

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.110 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.110 CausalMutation CLINVAR Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 24385578

2014
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.110 Biomarker HPO

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.110 GeneticVariation CLINVAR

Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.110 Biomarker HPO

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.110 Biomarker HPO

Entrez Id: 1312
Gene Symbol: COMT
COMT
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.110 Biomarker HPO

Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.110 Biomarker HPO

Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.110 Biomarker HPO

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.110 Biomarker HPO

Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.110 Biomarker HPO

Entrez Id: 23498
Gene Symbol: HAAO
HAAO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 GeneticVariation CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590

2016