Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 Biomarker CLINGEN Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 17704260

2007
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 Biomarker CLINGEN We further defined the phenotypic spectrum associated with KRAS missense mutations and provided the first evidence of clinical differences in patients with KRAS mutations compared with Noonan syndrome affected individuals with heterozygous PTPN11 mutations and CFC patients carrying a BRAF, MEK1 or MEK1 alteration, respectively. 17056636

2007
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 Biomarker CLINGEN De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. 17601930

2007
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 Biomarker CLINGEN Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 Biomarker CLINGEN Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.570 Biomarker CLINGEN Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. 21063443

2011
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.570 Biomarker CLINGEN

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.500 Biomarker CLINGEN Genotype and phenotype spectrum of NRAS germline variants. 28594414

2017
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.500 Biomarker CLINGEN The RASopathies. 23875798

2013
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker CLINGEN Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder. 26918529

2016
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker CLINGEN Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family. 25712082

2015
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker CLINGEN The RASopathies. 23875798

2013
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker CLINGEN Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless. 20133692

2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker CLINGEN The SOS1 E433K mutation, identified in a patient diagnosed with CFC, has previously been reported in patients with NS. 18456719

2008
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker CLINGEN Our results suggest that patients with SOS1 mutations range from NS to CFC syndrome. 18651097

2008
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker CLINGEN Germline gain-of-function mutations in SOS1 cause Noonan syndrome. 17143285

2007
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker CLINGEN Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 17143282

2007
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.310 Biomarker CLINGEN These results suggest that clinical manifestations in SHOC2 mutation-positive patients partially overlap with those in patients with typical Noonan or CFC syndrome and show that easily pluckable/loose anagen hair is distinctive in SHOC2 mutation-positive patients. 20882035

2010
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 6237
Gene Symbol: RRAS
RRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 5922
Gene Symbol: RASA2
RASA2
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.300 Biomarker CLINGEN