Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.100 GeneticVariation CLINVAR Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. 22528146

2012
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.100 GeneticVariation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605

2009
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.100 CausalMutation CLINVAR Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. 19156172

2009
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.100 CausalMutation CLINVAR Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. 17981815

2008
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.100 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.100 CausalMutation CLINVAR Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. 17567882

2007
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.100 CausalMutation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577

2007
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.100 CausalMutation CLINVAR Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. 17551924

2007
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.100 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
Entrez Id: 9158
Gene Symbol: FIBP
FIBP
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.100 GeneticVariation CLINVAR

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.100 CausalMutation CLINVAR

Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.100 CausalMutation CLINVAR

Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.100 CausalMutation CLINVAR

Entrez Id: 8021
Gene Symbol: NUP214
NUP214
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.100 GeneticVariation CLINVAR