Neuropathy

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