Hereditary motor and sensory neuropathy

Disease Term Disease ID Gene Symbol References
Hereditary Motor and Sensory Neuropathies C0027888 DYNC1H1
EGR2
MPZ
PMP22 17701891
RFC1 30926972
AMACR 10655068
PRX
Hereditary Motor and Sensory Neuropathy Type I C0751036 EGR2 9537424, 16198564, 27159987, 12609493, 10369870, 11523566, 12471219, 25720245, 27013732, 20513111, 10762521, 22765307, 11239949, 15947997, 17717711, 10371530, 26204789
HOXD10 15146389
MPZ 21149811, 11545686, 9588852, 16495463, 19259128, 19882637, 10965800, 12207932, 29670817, 19475438, 17602703, 9168174, 20571287, 25429913, 7505151, 16543539, 21504504, 7693129, 14711881, 16616847, 18636082, 15170620, 25694466, 11484669, 12402337, 7688964, 27088055, 9633821, 20461396, 25614874, 18347322, 8800924, 8797476, 22433810, 8644725, 22689911, 19293842, 7694726, 10764043, 22176150, 12090401, 9452091, 16488608, 16844954, 15716547, 12707985, 12477701, 11835375, 24028194, 26310628, 27639257, 7530550, 12207153, 9595994, 17143884, 23649551, 8938258, 18337304, 21840889, 20215982, 26454100, 23279346, 24819634, 10923043, 7527371, 11437164, 23290023, 9888385, 22451207, 11182278, 10581375, 16279991, 7506095, 20937820, 26234237, 11445635
NEFL
PMP22 25614874, 17275665, 9585367, 21827951, 19427269, 17303424, 23224996, 9004143, 25385046, 8995589, 8275092, 9425015, 1303281, 23965407, 11314784, 26102530, 21149811, 21252112, 10399754, 12090404, 23689413, 11140841, 18795802, 6313869
LITAF
FIG4 17572665
MORC2 28581500
TRPV4 22187434
LRSAM1 20865121
SLC25A46 26168012
Neuropathy, hereditary motor and sensory, Russe type C1854449 HK1 23996628, 22978647, 19536174, 28135719, 10915613, 11601496
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII C3809882 SCN11A 24813307, 26645915, 25118027, 24036948, 28298626, 27503742, 26746779, 28289907
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII C4225308 PRDM12 26005867, 25891934, 28050684, 26975306
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) C1853710 TRPV4 20037588, 24319099, 24789864, 21115951, 20037586, 19232556, 24575025, 20425821, 22065612, 27066566, 21454511, 21336783, 26948711, 25900305, 26048687, 20037587, 20460441, 20577006, 21658220, 22702953, 24963089, 22675077, 27549087, 22419508, 22526352, 25256292, 26110311, 21288981, 20503319, 26170305, 21573172, 27751652, 22547884, 26249260, 15668982
Hereditary motor and sensory neuropathy type 5 64751 MFN2
Hereditary motor and sensory neuropathy, Okinawa type 90117 TFG
Hereditary motor and sensory neuropathy type 6 90120 SLC25A46
MFN2