Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.150 CausalMutation CLINVAR

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

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
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation CLINVAR

Entrez Id: 746
Gene Symbol: TMEM258
TMEM258
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation CLINVAR

Entrez Id: 6909
Gene Symbol: TBX2
TBX2
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation CLINVAR

Entrez Id: 473
Gene Symbol: RERE
RERE
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 GeneticVariation CLINVAR

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 GeneticVariation CLINVAR

Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 GeneticVariation CLINVAR

Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 GeneticVariation CLINVAR

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation CLINVAR

Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation CLINVAR

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation CLINVAR

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 GeneticVariation CLINVAR

Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation CLINVAR

Entrez Id: 745
Gene Symbol: MYRF
MYRF
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation CLINVAR

Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 GeneticVariation CLINVAR

Entrez Id: 388650
Gene Symbol: DIPK1A
DIPK1A
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation CLINVAR