Disease Term Disease ID Gene Symbol References
Noonan Syndrome C0028326, 648 BRAF 24451042, 19376813, 21784453, 22892241, 26619011, 24803665, 23875798, 19206169, 12692057, 17704260, 18413255, 16439621, 17603482, 18456719, 23026937, 17366577, 16953233, 18060073, 17703371, 15035987, 23093928, 16474404, 20523244, 22495831, 21396583, 18953432, 18042262, 27521173, 18039235
CBL 20619386, 19571318, 21901340, 20955399, 20694012, 20644105, 20595524, 23875798, 25358541, 25952305, 23823657, 19620960
EPHA2 22845314
HRAS 16329078, 17703371, 29493581, 21438134
KRAS 24037001, 22302539, 16474405, 16474404, 29493581, 12110640, 23875798, 16921267, 24382853, 17056636, 14982869, 19396835, 17468812, 23548132, 17551339, 17703371, 16773572, 23321623, 8246952, 24803665, 18958496, 17875937, 25359213, 18509354, 17603483, 22488932, 17601930, 20526288, 20926413, 8234268, 17603482, 20949621, 18628094, 18456719, 17704260, 22211815, 21909114, 20112233, 21396583, 19020799
NF1 19845691
NRAS 19775298, 22855653, 24006476, 23875798, 21263000, 19966803, 18952898, 17384584, 10598665, 14982869, 15831708, 28594414, 15046639, 19047918, 16518851
PPP1CB
MAP2K1 18060073, 27862862, 17704260, 23875798, 17703371, 25049390, 23321623, 22327936, 19411838
MAP2K2 24311457, 18039235, 25862627, 18413255, 17981815, 23875798, 17703371
PTPN11 23875798, 23446178, 16533526, 15240615, 16679933, 16733669, 16498234, 15956085, 15712196, 18372317, 23321623, 23584145, 16990350, 28587547, 12634870, 16358218, 19251646, 23756559, 15985475, 16399795, 15385933, 29493581, 12529711, 16631468, 11704759, 20030748, 24451042, 22781091, 14644997, 20578946, 17453145, 20954246, 15928039, 19768645, 20308328, 22190897, 23917401, 22848035, 21910226, 16115145, 25097206, 15842656, 19047918, 16369799, 15690106, 18562489, 25337068, 19125092, 21407260, 28074573, 21567923, 12960218, 18849586, 15689434, 17177198, 16263833, 15121796, 12058348, 29084544, 19077116, 27460089, 22420426, 21204800, 15273746, 24736444, 17603482, 19273734, 22494877, 12717436, 24803665, 12161596, 23926459, 22058153, 17361219, 19582499, 17020470, 15009076, 20718194, 12325025, 17546245, 16804314, 17339163, 21248739, 19795160, 19008228, 16166557, 17703371, 19927903, 24150203, 14961557, 14634749, 24030381, 21747628, 16638574, 19760651, 14982869, 24039098, 12161469, 11992261, 26817465, 28297620, 21590266, 19737548, 23624134, 17972951, 15001945, 16643459, 19725129, 18678287, 17910045, 22315187, 18470943, 24628801, 12739139, 16461457, 17497712, 18241070, 21339643, 20186801, 18328949, 19706403, 15889278, 21677813, 15723289, 19020799, 20237506, 22371576, 15987685, 15389709, 19835954, 20979190, 18759865, 28628100, 17603483, 24718990, 15834506, 23832011, 17053061, 17641779, 20651068, 14974085, 27884971, 16377799, 22681964, 15520399, 21803945, 24219368, 19449407, 15996221, 25804457, 22465605, 24225993, 19120036, 18331608, 19017799, 18286234, 19352411, 25914815, 22711529, 16124853, 20383758, 23513489, 16892325, 21340158, 20112233, 17661820, 18758896, 15604238, 21365683, 17875892, 18378677, 25383899, 16830086
RAF1 23877478, 23321623, 17603482, 1760348, 24775816, 19933846, 12675918, 17603486, 19020799, 17603483, 24732797, 17603484, 20052757, 17603488, 29493581, 20683980, 26266034, 11933072, 29084544, 17603487, 21440552, 12077328, 23885229, 25862627, 22826437, 22821648, 22389993, 17603489, 25706034, 24782337, 19953625, 23613113, 21339642, 17603485
RASA1 26969842
RASA2 25049390
RIT1 27226556, 24901346, 23791108, 25124994, 26714497, 25049390, 24939608, 25959749, 24469055, 23875798, 27101134, 26757980, 24803665
RRAS 24705357, 23875798
SOS1 23487764, 30266093, 21274610, 21041952, 25712082, 23875798, 19020799, 26686981, 26214590, 17143282, 29493581, 21387466, 18651097, 24803665, 21340158, 23673306, 18772396, 20133692, 19438935, 24270602, 20461756, 1758637, 25337068, 18678287, 20305546, 20673819, 17143285, 17586837, 26918529, 19077116, 24522193, 20683980, 29037749, 17603483, 19352411, 17603482, 20133694, 11333268, 19953625, 21784453, 27236105, 28378436, 23452850, 18456719, 22190897, 22465605, 18854871
SOS2 23875798, 10938118, 25795793, 26173643
SHOC2 24458596, 24896146, 19684605, 23918763, 24458587, 22528146, 20882035
LZTR1 25795793, 29959388, 29469822, 25049390
RRAS2 31130282, 31130285, 24705357
MRAS 28289718, 23875798
KAT6B 21804188
A2ML1 25862627, 24939586, 27942422
Female Pseudo-Turner Syndrome C1527404 BRAF 17703371
EPHA2 22845314
HRAS 17703371
KRAS 17603482, 17603483, 17703371, 17468812
NRAS 19966803
MAP2K1 17703371
MAP2K2 17703371
PTPN11 17603483, 17703371, 17603482, 15273746
RAF1 17603482, 17603483
SOS1 17603483, 17603482
SHOC2 19684605
NOONAN SYNDROME 7 C3150970 BRAF 28650561, 19206169, 16372351, 21396583, 23875798
Noonan Syndrome 1 C4551602 BRAF 17703371
CBL
EPHA2 22845314
HRAS 17703371
KRAS 17703371, 17603482, 17468812, 17603483
NRAS 19966803
MAP2K1 17703371
MAP2K2 17703371
PTPN11 21567923, 23875798, 12717436, 14676626, 24891296, 18678287, 17546245, 17227708, 12960218, 16377799, 22058153, 18454468, 24767283, 11992261, 16399795, 15889278, 20308328, 17339163, 12161469, 26785492, 15948193, 17020470, 15385933, 11704759, 12739139, 24803665, 15539800, 28650561, 12325025, 16358218, 19582499, 15389709, 17910045, 27521173, 25912702, 27659786, 31064749, 15384080, 28957739, 27238887, 18253957, 17703371, 14644997, 23726368, 19509418, 15987685, 19020799, 28681392, 12634870, 15723289, 17603483, 12058348, 28483241, 15725481, 21407260, 19063751, 24628801, 12529711, 15273746, 21340158, 17603482, 14974085, 21677813, 30266093, 28074573, 18331608, 21803945, 17222357
RAF1 17603482, 17603483
RIT1
SOS1 17603482, 17603483
SOS2 26173643
SHOC2 19684605
RRAS2
NOONAN SYNDROME 3 C1860991 HRAS 3510078, 1904555
KRAS 22488932, 17468812, 21784453, 21686179, 25359213, 24803665, 17056636, 23875798, 16987887, 19396835, 16474405, 16773572, 23885229, 21396583, 20949621
PTPN11 16467864, 15689434, 17661820, 12325025, 24821303, 25097206, 15834506, 12717436, 22058153, 19077116, 25914815, 21744363, 18470943, 23321623, 12960218, 21784453, 26607044, 11992261, 20578946, 19737548, 12634870, 16358218, 25708222, 24458522, 24931631, 21680795, 16990350, 19179468, 18854871, 27276561, 25253770, 27683039, 18505544, 24030381, 17339163, 22190897, 20186801, 15928039, 24150203, 20112233, 22465605, 23756559, 15761018, 22488759, 25395418, 15248152, 19020799, 16377799, 20954246, 15956085, 19047918, 15385933, 17972951, 22681964, 17546245, 22781091, 21677813, 16498234, 15996221, 16804314, 15604238, 15842656, 24451042, 18241070, 15987685, 15690106, 18678287, 18759865, 17020470, 14644997, 19120036, 20308328, 15985475, 16638574, 15389709, 15520399, 20931536, 15001945, 27069254, 15710330, 15723289
RAF1 22821648
SOS1 21387466, 20186801, 17143282, 23487764, 21784453, 17586837
SHOC2 21784453, 19684605, 21396583, 23786871, 23885229, 22528146, 22253195, 20882035, 22419608, 21548061, 23756559, 22995099
Noonan Syndrome 6 C2750732 NRAS 19775298, 19966803, 23875798
Noonan Syndrome 5 C1969057 RAF1 23875798, 17603482, 17603483, 20683980
NOONAN SYNDROME 8 C3809233 RIT1 26714497, 26242988, 27109146, 25959749, 23791108, 26757980, 24939608, 2439608, 24901346, 2657980, 27101134, 30712878, 25124994, 27226556, 25049390, 26446362, 24469055
Noonan Syndrome 4 C1853120 SOS1 19438935, 19020799, 17143285, 17143282, 19953625, 20683980, 20673819, 23875798, 18925667, 21387466, 17586837
NOONAN SYNDROME 9 C4225282 SOS2 25795793, 26173643
Noonan Syndrome 2 C1854469 LZTR1 29469822, 30481304, 25795793, 25741868, 30368668
NOONAN SYNDROME 10 C4225280 LZTR1 30481304, 25795793, 30442762, 29469822, 30442766, 16356934, 30368668, 29959388