Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 Biomarker MGD

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 Biomarker MGD

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

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: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 GeneticVariation CLINVAR Effector domain mutations dissociate p21ras effector function and GTPase-activating protein interaction. 8246952

1993
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 GeneticVariation CLINVAR Probing the role of loop 2 in Ras function with unnatural amino acids. 8234268

1993
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.570 GeneticVariation BEFREE The results showed no abnormalities in the coding region of the PTPN11 gene in any CFC patient, nor any evidence of major deletions within the gene suggesting that mutations in other gene(s) are responsible for this syndrome. 12384786

2002
Entrez Id: 55997
Gene Symbol: CFC1
CFC1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.010 Biomarker BEFREE Previous studies of CFC1 (CRYPTIC), another member of the EGF-CFC family, demonstrated that normal function of this protein is required for proper laterality development in humans. 12073012

2002
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation CLINVAR Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma. 12692057

2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.570 GeneticVariation BEFREE With our previous exclusion of PTPN11 mutations in CFC syndrome, these data suggest distinct genetic etiologies for Noonan, CFC and Costello syndromes. 12752577

2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.570 Biomarker BEFREE The genetic cause of CFC syndrome remains unknown, and PTPN11 can be reasonably excluded as a candidate gene for the CFC syndrome, which we regard as molecular evidence that CFC and Noonan syndromes are distinct genetic entities. 12529707

2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.570 GeneticVariation BEFREE Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870

2003
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987

2004
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 Biomarker CLINGEN Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GermlineCausalMutation ORPHANET The cardiofaciocutaneous syndrome. 16825433

2006
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 Biomarker GENOMICS_ENGLAND Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006