Disease Term Disease ID Gene Symbol References
Neuropathy, Hereditary Sensory And Autonomic, Type IIA C2752089 KIF1A
SCN9A 17145499, 17470132, 18599537, 21115638, 19304393, 23149731, 374104, 25253744, 19557861
RETREG1
WNK1 16946995, 15060842, 15911806, 16636245, 11498583
SCN1A-AS1 17145499, 19304393, 17470132, 25253744, 374104, 21115638, 23149731, 19557861, 18599537
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC C3280168 KIF1A 28554332, 26125038, 21820098, 26410750, 25253658, 25585697, 28834584, 28362824, 25265257, 27034427, 26354034, 21376300
Chronic axonal neuropathy C4021578 B2M
HSPB1
SPTLC1
SETX
COG8
Neuropathy C0442874 MAPK14 28672053
GNGT1 29278617
NTRK3 31127053
TFG 27492651
TRDN 28672053
VAC14 27143689
NDUFAF6 25710658
UNC5D 28672053
C10orf143 27143689
LINC02841 31127053
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 C4722277 MAPK14 28672053
MPZ 8816708, 15184631, 10319895
RHO
TRDN 28672053
UNC5D 28672053
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 C4748608 MAPK14 28672053
CNTNAP1 28374019, 29511323, 27818385, 27668699
TRDN 28672053
UNC5D 28672053
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE C4721436 EGR2 22522483, 9537424
MPZ 26310628
Neuropathy, Painful C1850383 HMGB1 27474498
THBD 27474498
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC C3150896 SPTLC2 23658386, 24175284, 29042446, 26350204, 26681808, 26573920, 20920666
Neuropathy, hereditary motor and sensory, Okinawa type C1858338 TFG 22883144, 27813252, 26257172, 27492651, 23553329, 24613659, 25725944, 28124177, 28196470
NEUROPATHY, HEREDITARY SENSORY, TYPE IF C3810194 ATL3 24459106
NEUROPATHY, HEREDITARY SENSORY, TYPE ID C3150972 ATL1 24482476, 25637064, 20947813, 23233086, 23079343, 25761634, 22340599, 11685207, 20816793, 21194679, 15517445
Neuropathy, Hereditary Sensory And Autonomic, Type IIB C2751092 RETREG1 19838196, 24327336
Neuropathy, Distal Hereditary Motor, Type VIIA C1834703 SLC5A7 23141292, 29782645
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB C4225302 SLC25A46 26168012, 28369803