Hereditary motor and sensory neuropathy

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