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: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.140 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671

2018
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.140 CausalMutation CLINVAR Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 24385578

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.110 CausalMutation CLINVAR

Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772

2019
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
Entrez Id: 285051
Gene Symbol: STPG4
STPG4
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 57217
Gene Symbol: TTC7A
TTC7A
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 CausalMutation CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466

2011
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 CausalMutation CLINVAR Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980

2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 CausalMutation CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625

2010
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular 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: 6654
Gene Symbol: SOS1
SOS1
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 CausalMutation CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837

2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 GeneticVariation CLINVAR

Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 GeneticVariation CLINVAR

Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 GeneticVariation CLINVAR

Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 GeneticVariation CLINVAR

Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 CausalMutation CLINVAR

Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 GeneticVariation CLINVAR

Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 SusceptibilityMutation CLINVAR

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 CausalMutation CLINVAR