Cardiofaciocutaneous syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CARDIO-FACIO-CUTANEOUS SYNDROME
C1275081
BRAF Causal — Disgenet
KRAS Causal — Disgenet
MAP2K1 Causal — Disgenet
MAP2K2 Causal — Disgenet
HRAS Unknown — Disgenet
NRAS Unknown — Disgenet
PTPN11 Unknown — Disgenet
RAF1 Unknown — Disgenet
RIT1 Unknown — Disgenet
SHOC2 Unknown — Disgenet
SNAPC5 Unknown — Disgenet
SOS1 Unknown — Disgenet
CARDIOFACIOCUTANEOUS SYNDROME
1340MESH:C535579MONDO:0015280
BRAF Unknown
16439621 17703371 16474404 16825433 19376813 20301365 23875798 24409384 25639853 26472072
CTD ClinGen GWAS catalog Orphanet
HRAS Unknown
17703371
CTD
KRAS Unknown
16474404 16825433 17056636 17601930 17703371 17704260 18456719 20301365 20949621 21871821 23875798
CTD ClinGen GWAS catalog Orphanet
MAP2K1 Unknown
16439621 17703371 16825433 17551924 17981815 18413255 19156172 20301365 23875798 25049390
CTD ClinGen Orphanet
MAP2K2 Unknown
16439621 17703371 16825433 17366577 17704260 17981815 18413255 18456719 20301365 20518782 23875798 25487361
CTD ClinGen GWAS catalog Orphanet
NRAS Unknown
19775298 19966803
ClinGen Disgenet
PTPN11 Unknown
17703371
CTD ClinGen
RAF1 Unknown — ClinGen
SHOC2 Unknown — ClinGen
SOS1 Unknown — ClinGen
CARDIOFACIOCUTANEOUS SYNDROME 1
115150MONDO:0007265
BRAF Causal
19206169 18042262 16474404 16372351
ClinVar GWAS catalog HPO
CARDIOFACIOCUTANEOUS SYNDROME 2
615278C3809005MONDO:0014112
KRAS Causal — ClinVar Disgenet GenCC HPO
CARDIOFACIOCUTANEOUS SYNDROME 3
615279C3809006MONDO:0014113
MAP2K1 Causal — ClinVar Disgenet GenCC HPO
SNAPC5 Unknown — Disgenet
CARDIOFACIOCUTANEOUS SYNDROME 4
615280C3809007MONDO:0014114
MAP2K2 Causal — ClinVar Disgenet GenCC HPO