Cardiofaciocutaneous syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Cardio-facio-cutaneous syndrome C1275081 BRAF Causal Pathogenic evidence from ClinVar 12692057, 15035987, 16372351, 16439621, 16474404, 16804887, 16825433, 16953233, 17366577, 17496923, 17551924, 17603482, 17703371, 17704260, 18039235, 18042262, 18060073, 18413255, 18451217, 18456719, 18470943, 18854871, 18953432, 19206169, 19376813, 19416762, 20186801, 20395089, 20523244, 21063443, 21396583, 21784453, 21871821, 22301711, 22495831, 22876591, 22892241, 23026937, 23093928, 23875798, 24037001, 24409384, 24451042, 24719372, 24775816, 25035421, 25639853, 26472072, 26619011, 28650561 ClinVar
KRAS Causal Pathogenic evidence from ClinVar 8234268, 8246952, 16474404, 16474405, 16773572, 16825433, 17056636, 17551339, 17601930, 17703371, 17704260, 17875937, 18456719, 18958496, 19020799, 19396835, 20926413, 20949621, 21396583, 21797849, 21871821, 23059812, 23548132, 23875798 ClinVar
MAP2K1 Causal Pathogenic evidence from ClinVar 16439621, 16825433, 17366577, 17551924, 17567882, 17703371, 17704260, 17981815, 18042262, 18060073, 18413255, 18632602, 19156172, 19411838, 19915144, 20354455, 22327936, 22848035, 23093928, 23321623, 23569304, 23875798, 24236184, 24637312, 24803665, 25049390, 28049852, 29461977, 29493581 ClinVar
MAP2K2 Causal Pathogenic evidence from ClinVar 16439621, 16825433, 17366577, 17703371, 17704260, 17981815, 18039235, 18042262, 18413255, 18456719, 20358587, 20518782, 21396583, 23379592, 23875798, 25487361, 29493581 ClinVar
A2ML1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HRAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17703371 -
LZTR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MRAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NRAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19775298, 19966803, 23875798, 28594414 -
PPP1CB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PTPN11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17703371, 21063443 -
RAF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26918529 -
RASA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RASA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RIT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RRAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SHOC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20882035 -
SOS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17143282, 17143285, 18456719, 18651097, 20133692, 23875798, 25712082 -
SOS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Cardiofaciocutaneous syndrome 1340 BRAF Causal Pathogenic evidence from ClinVar - ClinVar
KRAS Causal Pathogenic evidence from ClinVar - ClinVar
MAP2K1 Causal Pathogenic evidence from ClinVar - ClinVar
MAP2K2 Causal Pathogenic evidence from ClinVar - ClinVar
CARDIOFACIOCUTANEOUS SYNDROME 2 C3809005 KRAS Causal Pathogenic evidence from ClinVar 16474404, 16474405, 17056636, 17468812, 17601930, 20949621, 21396583, 21797849, 22488932, 23875798, 24803665 ClinVar
CARDIOFACIOCUTANEOUS SYNDROME 3 C3809006 MAP2K1 Causal Pathogenic evidence from ClinVar 16439621, 17704260, 18042262, 23321623, 23875798, 25423878, 27862862 ClinVar
CARDIOFACIOCUTANEOUS SYNDROME 4 C3809007 MAP2K2 Causal Pathogenic evidence from ClinVar 16439621, 18042262, 20358587, 21396583, 23379592, 23875798, 27799067 ClinVar