Costello syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Costello syndrome 3071 HRAS Causal Pathogenic evidence from ClinVar - ClinVar
Costello syndrome (disorder) C0587248 HRAS Causal Pathogenic evidence from ClinVar 2105486, 2674130, 3004741, 3283542, 3304147, 6287572, 6287573, 6288698, 10716188, 16170316, 16329078, 16372351, 16443854, 16474405, 16835863, 16881968, 16921267, 16969868, 17054105, 17211612, 17412879, 17468812, 17703371, 17979197, 18039947, 18042262, 18247425, 18642361, 18978862, 19035362, 19132118, 19206176, 19371735, 19382114, 19669404, 19995790, 20112233, 20658932, 20660566, 20949621, 20979192, 21344638, 21396583, 21438134, 21779495, 21834037, 21850009, 22317973, 22488832, 22495892, 22821884, 22926243, 23093928, 23321623, 23335589, 23751039, 23875798, 24006476, 24057668, 24169525, 24224811, 25367099, 25668678, 25677562, 25914166, 26888048, 27195699, 27589201, 28027064, 28425981, 29493581 ClinVar
A2ML1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BRAF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16804887, 17703371 -
KRAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16773572, 17056636, 17468812, 17703371 -
LZTR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MAP2K1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17703371 -
MAP2K2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17703371 -
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 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 -
RAF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20052757 -
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 20030748 -
SOS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -