Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.190 CausalMutation CLINVAR Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. 22711529

2012
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.190 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.190 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.190 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.140 CausalMutation CLINVAR

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.130 CausalMutation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.110 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.110 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.110 GeneticVariation CLINVAR

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		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: 3265
Gene Symbol: HRAS
HRAS
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. 19206176

2009
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 GeneticVariation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947

2008
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105

2007
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. 16372351

2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR Somatic mosaicism for an HRAS mutation causes Costello syndrome. 16969868

2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. 16881968

2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078

2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 GeneticVariation CLINVAR

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR

Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 GeneticVariation CLINVAR

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 GeneticVariation CLINVAR