Disease Term Disease ID Gene Symbol References
LEOPARD Syndrome C0175704 BRAF 19416762, 24775816, 19206169, 22465605, 21396583, 23875798
EPHA2 22845314
HRAS
KRAS
NRAS 22887781, 23875798, 19775298, 26467218
PPP1CB
MAP2K1 23321623, 16439621, 25423878, 23875798
MAP2K2
PTEN 11685670
PTPN11 24767283, 29493581, 17875892, 14634749, 22585553, 19077116, 21339643, 15121796, 20308328, 16369799, 16804314, 25884655, 24718990, 22555271, 19054014, 22681964, 20578946, 14974085, 21677813, 21747628, 15690106, 18678287, 19582499, 15520399, 12161596, 12058348, 17935252, 16638574, 16377799, 15889278, 19864201, 16733669, 19725129, 22058153, 19020799, 21910226, 19768645, 15987685, 19174044, 21803945, 18372317, 17453145, 24935154, 23813970, 15470362, 16358218, 23875798, 18470943, 14961557, 15985475, 11704759, 19273734, 17339163, 20493809, 25917897, 22528600, 23799168, 18849586, 15001945, 14644997, 24451042, 17603483, 15389709, 19133693, 20883402, 15928039, 22190897, 12634870, 18241070, 26952712, 24628801, 16679933, 21407260, 11992261
RAF1 17603482, 17603483, 20052757, 19953625, 22389993, 24775816, 25706034, 21440552, 19933846, 23875798
RASA1
RASA2
RIT1
RRAS
SOS1
SOS2
SHOC2
LZTR1
PPP1R13L 25691752, 15661756, 19016676
MRAS
A2ML1
LEOPARD SYNDROME 3 C3150971 BRAF 19206169, 16372351, 23875798, 21396583
Leopard Syndrome 1 C4551484 BRAF 19416762
EPHA2 22845314
MAP2K1 25423878
PTEN 11685670
PTPN11 21340158, 15389709, 19509418, 28650561, 20308328, 12058348, 16733669, 15690106, 24803665, 27521173, 21567923, 24891296, 11704759, 26785492, 28483241, 14974085, 11992261, 15520399, 15987685, 26742426, 14644997, 21407260, 23726368, 15121796, 18253957, 18678287, 17603483, 24628801, 16399795, 28957739, 16679933, 25912702, 14961557
RAF1 17603483
LEOPARD SYNDROME 2 C1969056 RAF1 17603483, 23875798, 17603482