×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
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
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
Ventricular Septal Defects
0.110
CausalMutation
CLINVAR
×
Entrez Id:
6659
Gene Symbol:
SOX4
SOX4
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Ventricular Septal Defects
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
6197
Gene Symbol:
RPS6KA3
RPS6KA3
Ventricular Septal Defects
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
8289
Gene Symbol:
ARID1A
ARID1A
Ventricular Septal Defects
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Ventricular Septal Defects
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
Ventricular Septal Defects
0.100
CausalMutation
CLINVAR
×
Entrez Id:
2294
Gene Symbol:
FOXF1
FOXF1
Ventricular Septal Defects
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
80144
Gene Symbol:
FRAS1
FRAS1
Ventricular Septal Defects
0.100
SusceptibilityMutation
CLINVAR
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Ventricular Septal Defects
0.100
CausalMutation
CLINVAR