Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.550 Biomarker CLINGEN

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.320 Biomarker CLINGEN Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. 20052757

2010
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.310 Biomarker CLINGEN

Entrez Id: 5922
Gene Symbol: RASA2
RASA2
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.300 Biomarker CLINGEN

Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.300 Biomarker CLINGEN

Entrez Id: 6237
Gene Symbol: RRAS
RRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.300 Biomarker CLINGEN

Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.310 Biomarker CLINGEN Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. 20882035

2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.310 Biomarker CLINGEN A case mimicking CS with SOS1 T158A substitution, which has not been reported previously in CS, revealed the complex relationship between the genotype and phenotype of overlapping syndromes of the RAS/RAF/MEK/ERK pathway. 20030748

2010
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.300 Biomarker CLINGEN