Charcot-marie-tooth disease

Disease Term Disease ID Gene Symbol References
Charcot-Marie-Tooth Disease C0007959 AARS1
DES
DYNC1H1 21820100, 25025039
DNM2 25025039
GJB1
HINT1
HOXD10 15146389
DNAJB2
HSPB1 22031878, 15122254, 20660910, 20178975, 25025039
IGHMBP2
LMNA 18478590, 25025039
MARS1
MPZ 25614874
ATP6 22933740
PMP22 17275665, 19427269, 25614874, 17303424
SBF1
TTN
CTDP1 16194727
SPTLC2 20920666
BAG3
ARHGEF10 25025039
FIG4 17572665
WASHC5
MFN2 18425620, 16714318, 21840889, 25025039, 21531138
SPTLC1 30420926
MORC2 28581500
SETX 27604308
KIF1B
HSPB8
GDAP1 25614874
TRPV4 22187434
SH3TC2 25025039, 19272779, 16924012, 18511281, 25614874, 14574644
MED25
LRSAM1 20865121
SLC25A46 26168012
Charcot-Marie-Tooth Disease, Axonal, Type 2n C2750090 AARS1 20045102, 22009580, 26032230, 22206013, 24357685, 26257172
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD C4747974 ATP1A1 29499166, 30388404
ATP1A1-AS1
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D C4015029 COX6A1 25152455
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O C3280220 DYNC1H1 21820100, 24307404, 26846447, 26392352, 25512093, 28554554, 22459677
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) C1847902 DNM2 22613877, 26199319, 15731758, 17932957, 25492887, 24016602, 20927630, 23813975, 20858595, 24465259, 21762456, 22396310, 17008356, 25262827, 20529869, 21221624, 24135484, 25957634, 25501959, 19623537, 20700106, 26273216, 17636067, 26908122, 28676641, 19932619, 22369075, 19130742, 22096584, 23338057, 27343996, 26842864, 20227276, 16227997, 23394783, 18394888, 20817456, 18560793
Charcot-Marie-Tooth Disease, Type Ia (disorder) C0270911 DSCAM 30958311
HOXD10 15146389
MPZ
PMP22 19427269, 8252046, 11835375, 11140841, 9040737, 12497641, 9040744, 8510709, 10489052, 12402337, 8777804, 10737979, 8655153, 17275665, 8615087, 15205993, 9371959, 21252112, 21149811, 17303424, 1303281, 22006697
LITAF 30958311
FIG4 17572665
MORC2 28581500
SIPA1L2 30706531
TRPV4 22187434
LRSAM1 20865121
SLC25A46 26168012
SPATA5 30706531
LINC00243 30958311
Dejerine-Sottas Disease (disorder) C0011195 EGR2 11523566, 10371530
GJB1 15947997
MPZ 11596785, 9187667, 7506095, 8816708, 9452091, 8630052, 11438991, 9452055, 11835375, 12497641, 12242557, 9633821, 9222756
PMP22 8995589, 18698610, 9187667, 7675244, 8252046, 9585367, 8275092, 9055797, 9544841, 10663978, 9452053, 7728152, 12090401, 17701891, 9633821, 9004143, 11438991, 10211478
RFC1 30926972
AMACR 10655068
PRX 22847150, 11133365, 21079185, 11157804, 26059842, 15197604, 10848494, 24078732
Charcot-Marie-Tooth disease, Type 1D (disorder) C1843247 EGR2 10762521, 15947997, 9537424, 15241803, 12736090, 10502832, 11239949
Charcot-Marie-Tooth disease type 4 C4082197 EGR2
SBF1
MTMR2 10802647
FIG4 17572665, 23489662, 25614874, 23623387, 24878229, 24088667, 18556664, 21705420, 28251916
NDRG1 23996628, 12872253
GDAP1
PRX 11133365, 15469949, 12112076, 27862672, 15197604, 25614874, 26059842, 22847150, 16770524
SH3TC2 20220177, 16924012, 28555600, 25737037, 19744956, 23553667, 14574644, 20826437, 18511281, 27068304, 23281072, 21291453, 20028792, 26392352, 22978647, 17470135, 26752306, 27231023, 16326826, 21840889
SBF2 25873783, 12687498, 15477569
FGD4 17564972, 17564959
SBF2-AS1 12687498, 15477569, 25873783
Charcot-Marie-Tooth disease, Type 4E C4721437 EGR2
Charcot-Marie-Tooth disease, Type 2D C1832274 GARS1 26244500, 12690580, 26503042, 17595294, 26633545, 17101916, 20169446, 21737751, 24604904, 17035524, 25168514, 24669931, 17663003, 17544401
Charcot-Marie-Tooth disease, X-linked, 1 C0393808 GJB1 10220155, 9452099, 9018031, 12325071, 12402337, 10923043, 11140841, 14627639, 10938190, 11835375, 11438991, 26257172, 9187667, 8004109, 7477983, 8698335, 15241803, 10093067, 10931843, 10737979, 12460545, 12707076, 10586284, 24357685, 19335535, 11437164, 12477701, 8737658, 8162049, 9099841, 28492532, 27564080, 12497641, 28283593, 23827825, 26385972, 26392352, 28768847, 10071100, 10873293, 8757034, 8266101, 16301507, 8990008, 9272161, 10894999, 8733054, 12207932, 8956046, 23209285, 11571214, 11723288, 27234031, 8807343, 17353473, 10732813, 11325342, 9469569, 11030070, 7580242, 9452025, 9401007, 10234007, 10586261, 7833935, 12536289, 15006706, 12499506, 9818870, 11891346, 12185164, 8829637, 11180613, 9633821, 8889588, 15468313, 8628473, 19259128, 9364054, 15852376, 11562788, 9361298, 9856562
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W C4225265 HARS1 22930593, 26072516, 29235198
Charcot-Marie-Tooth Disease, Type Ib C0270912 HOXD10 15146389
MPZ 10737979, 7693130, 7693129, 8797476, 11835375, 11438991, 14711881, 15036333, 10214757, 12402337, 8990016, 9187667, 10475757, 24053775, 12477701, 8835320, 22689911, 12497641, 20215982, 12845552, 9452099, 12707985, 11445635, 17172621, 8844219, 7530774, 17602703, 18422810, 8644725, 20461396, 25614874, 18337304, 16844954, 12221176, 21840889, 7504284, 9217235, 8664899, 26257172, 11437164, 9168174, 12207932, 10093067, 25694466, 23250879, 24444136, 19293842, 10545037, 7688964, 10965800, 9633821, 16488608, 7527371, 7550231, 8816708, 7694726, 9452091, 7505151
PMP22 17303424, 17275665, 19427269
FIG4 17572665
MORC2 28581500
TRPV4 22187434
LRSAM1 20865121
SLC25A46 26168012
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T C4015635 DNAJB2 26633545
MME 27588448, 26991897
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F C1847823 HSPB1 15122254, 25965061, 23728742, 28595321, 22176143, 23643870, 25547330, 23948568, 28144995, 21892769, 28702508, 27816334, 26989944, 21611841, 20870250, 23963299, 20178975, 18325928, 25429913, 27862672, 22206013, 18344398, 22734906, 28379183, 17881652, 29381233, 18832141
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S C4015349 IGHMBP2 27450922, 17431882, 25439726, 28202949, 14681881, 15503272, 11528396, 16765827, 25568292, 18802676, 22157136, 14506069, 26257172, 25454169, 19158098, 26392352, 19157874, 234316, 15269181, 26709713, 24388491
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B C3150897 KARS1 27604308, 20920668, 23768514, 28496994, 8812440, 25330800
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation C4707173, 324611 KIF5A 21623771
Charcot-Marie-Tooth disease, Type 2B1 C1854154 LMNA 20186049, 11799477, 17536044, 27532257, 17347251, 14607793, 18549403
NEFL
MED25
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U C4084821 MARS1 23729695, 24354524
Charcot-Marie-Tooth Disease, Dominant Intermediate D C1843075 MPZ 10406984
Charcot-Marie-Tooth disease, Type 2J C1843153 MPZ 15326256, 11080237, 10071056, 16775239
Charcot-Marie-Tooth disease, Type 2I C3888087 MPZ 11835375, 14638973, 15241803, 12477701, 9595994
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V C4225306 NAGLU 10094189, 9950362, 14984474, 8650226, 20852935, 25818867, 9832037, 25256447, 9443875, 21712855, 26907177, 9443878
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC C4310790 NEFH
Charcot-Marie-Tooth disease, Type 1C C0270913 NEFL
LITAF 25058650, 28211240, 16118794, 12525712, 15122712, 24604904, 21896645, 15776429, 23166352, 15786462, 23576546
Charcot-Marie-Tooth disease, demyelinating, Type 1F C1843164 NEFL 10841809, 23618875, 12566280, 15241803
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) C1843225 NEFL 10841809, 25877835, 22206013, 14733962, 26645395, 17052987, 21493625, 19158810, 27549087, 27206872, 12566280, 22288874, 12481988, 26109717, 25802885, 23618875, 12477167, 24887401, 21840889, 25552649, 15241803, 25448007, 11220745
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G C4693509 NEFL 14733962, 17052987, 25877835, 10841809, 26645395, 23618875
Charcot-Marie-Tooth disease type 2B5 C4749824, 228374 NEFL 20039262
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G C4748940 PMP2 26828946, 30249361, 26257172, 27009151
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e C3495591 PMP22 11835375, 15099592, 10330345, 12578939
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 C1839566 PRPS1 17701900, 8968763, 24285972, 27604308, 24896178, 8498830, 25182139
Charcot-Marie-Tooth disease type 4B3 C3695063, 363981 SBF1 24799518, 23749797, 28902413
SURF1-related Charcot-Marie-Tooth disease type 4 C4225246, 391351 SURF1 24027061
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y C4225244 VCP 25125609, 25878907
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y C4225578 VCP 25878907, 25125609
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) C1833219 RAB7A 12545426, 15455439, 17060578, 26791407, 20028791, 23188822, 27462242, 21151572, 22971099
Charcot-Marie-Tooth Disease, Dominant Intermediate C C1842237 YARS1 16429158, 26257172, 19561293, 14606043, 26138142, 26975778
Charcot-Marie-Tooth disease, Type 4B1 C1832399 MTMR2 28509084, 12398840, 10802647
HMSN Type V C4721916 CYP7B1 18252231
TECPR2 23176824
MFN2
PQBP1 14634649
PNPLA6 20382209
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J C1970011 FIG4 24878229, 21655088, 23888880, 19118816, 21705420, 17572665, 23489662, 20630877, 18556664, 23623387
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder) C1836485 MFN2
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B C4310725 MFN2 21715711, 18458227, 26085578, 16835246, 26955893, 20350294
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A C4310875 MFN2
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A C4721887 MFN2 26257172, 15549395, 22492563, 24053775, 25025039, 26114802, 15064763, 28414270, 26378787, 27604308, 28251916, 20350294, 21715711, 22206013, 21326314, 18458227, 24126688, 29358271, 30158064, 26085578, 20008656, 16762064
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D C1832334 NDRG1 10831399, 28776325
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z C4225243 MORC2 29440755, 26497905, 26659848, 27105987, 27794525, 27105897, 28581500, 26912637
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 C1861678 KIF1B 25802885, 11389829
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R C3809655 TRIM2 23562820, 25893792, 26257172, 18687884
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder) C1837552 HSPB8 23389032
Charcot-Marie-Tooth Disease, Recessive Intermediate A C1842197 GDAP1 12566285, 16172208, 12499475, 15772096, 11743579, 2937239
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K C1842983 GDAP1 28244113, 22206013, 26525999, 11743579, 2937239, 20685671, 15772096
JPH1
Charcot-Marie-Tooth disease, Type 4A, axonal form C1843183 GDAP1 16172208, 12868504
LRSAM1 22781092, 27686364
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) C1859198 GDAP1 20849849, 11743580, 2937239, 14561495, 21965300, 11743579, 19782751, 18021315, 21212451, 12601710, 15805163, 18504680, 26392352, 23963299, 19500985, 18421898, 26525999, 15192818, 28495047, 25429913, 21753178, 29372391, 22206013, 21890626, 21692914, 17433678, 15772096, 22971097, 15377708, 20685671, 21199105, 23456260, 28220846, 12566285, 23466821, 28751717, 23628762, 16172208, 21840889
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q C3554366 DHTKD1 23141294
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C C3809309 PLEKHG5 17564964, 23844677, 23777631
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F C3540453 PRX 22847150, 10848494, 11133365
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F C3554654 GNB4 23434117, 28642160
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E C3280845 INF2 22187985, 27974406, 24174593, 24750328, 25165188, 25676889
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C C1866636 SH3TC2 19805030, 17470135, 23281072, 16326826, 29321516, 22978647, 26752306, 26257172, 22462672, 14574644, 29184351, 27231023, 16806930, 25525159
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X C4225253 SPG11 24357685, 19194956, 26556829, 17322883
Charcot-Marie-Tooth disease, Type 4B2 C1858278 SBF2 12554688, 12687498
Charcot-Marie-Tooth disease, Type 2B2 C1854150 MED25 19290556
Charcot-Marie-Tooth disease, axonal, Type 2G C1837805 LRSAM1 27686364, 22781092
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P C3280797 LRSAM1 22012984, 20865121, 24894446, 27686364, 27615052, 26900582, 29341362, 26752306, 28335037, 27164712
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H C1836336 FGD4 15744041, 17564959, 17564972
Charcot-Marie-Tooth disease type 4J 139515 FIG4
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B 254334 KARS1
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A 217055 GDAP1
Autosomal dominant Charcot-Marie-Tooth disease type 2N 228174 AARS1
Autosomal dominant Charcot-Marie-Tooth disease type 2M 228179 DNM2
Autosomal dominant Charcot-Marie-Tooth disease type 2Q 329258 DHTKD1
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C 369867 PLEKHG5
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F 352670 GNB4
Autosomal dominant Charcot-Marie-Tooth disease type 2O 284232 DYNC1H1
Charcot-Marie-Tooth disease type 2P 300319 LRSAM1
Autosomal dominant Charcot-Marie-Tooth disease type 2V 447964 NAGLU
Autosomal recessive Charcot-Marie-Tooth disease type 2X 466775 SPG11
Autosomal dominant Charcot-Marie-Tooth disease type 2Z 466768 MORC2
Charcot-Marie-Tooth disease type 2R 397968 TRIM2
Autosomal dominant Charcot-Marie-Tooth disease type 2U 397735 SLA2
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation 435819 TFG
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D 435998 COX6A1
Charcot-Marie-Tooth disease type 2S 443073 IGHMBP2
DNAJB2-related Charcot-Marie-Tooth disease type 2 443950 DNAJB2
Autosomal dominant Charcot-Marie-Tooth disease type 2Y 435387 VCP
Charcot-Marie-Tooth disease type 2T 495274 MME
MME-related autosomal dominant Charcot Marie Tooth disease type 2 497757 MME
PMP2-related Charcot-Marie-Tooth disease type 1 476394 PMP2
Autosomal dominant Charcot-Marie-Tooth disease type 2W 488333 HARS1
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation 487814 DGAT2
Autosomal dominant Charcot-Marie-Tooth disease type 2DD 521414 ATP1A1
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect 521411 SCO2
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E 93114 INF2
Charcot-Marie-Tooth disease type 1E 90658 PMP22
Charcot-Marie-Tooth disease type 2B1 98856 LMNA
Charcot-Marie-Tooth disease type 1F 101085 NEFL
Charcot-Marie-Tooth disease type 1A 101081 PMP22
Charcot-Marie-Tooth disease type 1B 101082 MPZ
Charcot-Marie-Tooth disease type 1C 101083 LITAF
Charcot-Marie-Tooth disease type 1D 101084 EGR2
Charcot-Marie-Tooth disease type 2H 101102 GDAP1
Charcot-Marie-Tooth disease type 2B2 101101 MED25
PNKP
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B 100044 DNM2
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C 100045 YARS1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 100046 MPZ
Charcot-Marie-Tooth disease type 4B1 99955 MTMR2
Charcot-Marie-Tooth disease type 4B2 99956 SBF2
Charcot-Marie-Tooth disease type 4A 99948 GDAP1
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 99947 MFN2
Charcot-Marie-Tooth disease type 4D 99950 NDRG1
Charcot-Marie-Tooth disease type 4C 99949 SH3TC2
Charcot-Marie-Tooth disease type 4F 99952 PRX
Charcot-Marie-Tooth disease type 4E 99951 EGR2
Charcot-Marie-Tooth disease type 4H 99954 FGD4
Charcot-Marie-Tooth disease type 4G 99953 HK1
Autosomal dominant Charcot-Marie-Tooth disease type 2F 99940 HSPB1
Autosomal dominant Charcot-Marie-Tooth disease type 2E 99939 NEFL
Autosomal dominant Charcot-Marie-Tooth disease type 2I 99942 MPZ
Autosomal dominant Charcot-Marie-Tooth disease type 2K 99944 GDAP1
Autosomal dominant Charcot-Marie-Tooth disease type 2J 99943 MPZ
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 99946 KIF1B
Autosomal dominant Charcot-Marie-Tooth disease type 2L 99945 HSPB8
Autosomal dominant Charcot-Marie-Tooth disease type 2B 99936 RAB7A
Autosomal dominant Charcot-Marie-Tooth disease type 2C 99937 TRPV4
Autosomal dominant Charcot-Marie-Tooth disease type 2D 99938 GART