Leopard syndrome

Disease Term Disease ID Gene Symbol Classification References Source
LEOPARD Syndrome C0175704 BRAF Causal Pathogenic evidence from ClinVar 19206169, 19416762, 21396583, 22465605, 23875798, 24775816 ClinVar
PTPN11 Causal Pathogenic evidence from ClinVar 11704759, 11992261, 12058348, 12161596, 12634870, 14634749, 14644997, 14961557, 14974085, 15001945, 15121796, 15389709, 15470362, 15520399, 15690106, 15889278, 15928039, 15985475, 15987685, 16358218, 16369799, 16377799, 16638574, 16679933, 16733669, 16804314, 17339163, 17453145, 17603483, 17875892, 17935252, 18241070, 18372317, 18470943, 18678287, 18849586, 19020799, 19054014, 19077116, 19133693, 19174044, 19273734, 19582499, 19725129, 19768645, 19864201, 20308328, 20493809, 20578946, 20883402, 21339643, 21407260, 21677813, 21747628, 21803945, 21910226, 22058153, 22190897, 22528600, 22555271, 22585553, 22681964, 23799168, 23813970, 23875798, 24451042, 24628801, 24718990, 24767283, 24935154, 25884655, 25917897, 26952712, 29493581 ClinVar
RAF1 Causal Pathogenic evidence from ClinVar 17603482, 17603483, 19933846, 19953625, 20052757, 21440552, 22389993, 23875798, 24775816, 25706034 ClinVar
A2ML1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EPHA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22845314 -
HRAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KRAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
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 16439621, 23321623, 23875798, 25423878 -
MAP2K2 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, 22887781, 23875798, 26467218 -
PPP1CB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PPP1R13L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15661756, 19016676, 25691752 -
PTEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11685670 -
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 - -
SOS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SOS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Leopard Syndrome 1 C4551484 BRAF Causal Pathogenic evidence from ClinVar 19416762 ClinVar
PTPN11 Causal Pathogenic evidence from ClinVar 11704759, 11992261, 12058348, 14644997, 14961557, 14974085, 15121796, 15389709, 15520399, 15690106, 15987685, 16399795, 16679933, 16733669, 17603483, 18253957, 18678287, 19509418, 20308328, 21340158, 21407260, 21567923, 23726368, 24628801, 24803665, 24891296, 25912702, 26742426, 26785492, 27521173, 28483241, 28650561, 28957739 ClinVar
RAF1 Causal Pathogenic evidence from ClinVar 17603483 ClinVar
EPHA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22845314 -
MAP2K1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25423878 -
PTEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11685670 -
LEOPARD SYNDROME 3 C3150971 BRAF Causal Pathogenic evidence from ClinVar 16372351, 19206169, 21396583, 23875798 ClinVar
LEOPARD SYNDROME 2 C1969056 RAF1 Causal Pathogenic evidence from ClinVar 17603482, 17603483, 23875798 ClinVar