Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.190 CausalMutation disease 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 		0.190 CausalMutation disease CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.190 CausalMutation disease 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 		0.190 CausalMutation disease CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.140 CausalMutation disease CLINVAR
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.130 CausalMutation disease CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.110 CausalMutation disease CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.110 CausalMutation disease CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		0.100 CausalMutation disease CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822 2018
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		0.100 GeneticVariation disease 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 		0.100 CausalMutation disease 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 		0.100 GeneticVariation disease CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262 2008
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947 2008
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR Somatic mosaicism for an HRAS mutation causes Costello syndrome. 16969868 2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. 16881968 2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854 2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078 2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316 2005
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.100 CausalMutation disease CLINVAR
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		0.100 GeneticVariation disease CLINVAR