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