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 |