Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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

Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 22808
Gene Symbol: MRAS
MRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.300 Biomarker CLINGEN

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: 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: 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: 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: 5605
Gene Symbol: MAP2K2
MAP2K2
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 Biomarker CLINGEN We report on a fourth familial case with transmission of CFC syndrome from father to son due to a novel heterozygous sequence change c.376A>G (p.N126D) in exon 3 of MEK2 gene. 25487361

2015
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 Biomarker CLINGEN The RASopathies. 23875798

2013
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 Biomarker CLINGEN The RASopathies. 23875798

2013