Hereditary sensory and autonomic neuropathy

Disease Term Disease ID Gene Symbol Classification References Source
Hereditary sensory and autonomic neuropathy type 6 314381 DST Causal Pathogenic evidence from ClinVar - ClinVar
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI C3539003 DST Causal Pathogenic evidence from ClinVar 20164846, 22522446, 24381311, 25059916 ClinVar
DST-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hereditary sensory and autonomic neuropathy type 2 970 KIF1A Causal Pathogenic evidence from ClinVar - ClinVar
RETREG1 Causal Pathogenic evidence from ClinVar - ClinVar
SCN9A Causal Pathogenic evidence from ClinVar - ClinVar
WNK1 Causal Pathogenic evidence from ClinVar - ClinVar
Hereditary Sensory Autonomic Neuropathy, Type 2 C0020072 KIF1A Causal Pathogenic evidence from ClinVar - ClinVar
RETREG1 Causal Pathogenic evidence from ClinVar 19838196 ClinVar
SCN9A Causal Pathogenic evidence from ClinVar 23596073 ClinVar
WNK1 Causal Pathogenic evidence from ClinVar - ClinVar
DNMT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21532572 -
NGF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NTRK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hereditary Sensory and Autonomic Neuropathies C0027889 RETREG1 Causal Pathogenic evidence from ClinVar 19838196, 24327336 ClinVar
DNMT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21532572 -
NGF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NTRK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hereditary Sensory Autonomic Neuropathy, Type 1 C0020071 RETREG1 Causal Pathogenic evidence from ClinVar 19838196 ClinVar
SPTLC1 Causal Pathogenic evidence from ClinVar 11242106, 11242114, 12417569, 16210380, 16216550, 16364956, 18018475, 19132419, 19651702, 19923297, 20097765, 20504773, 21618344, 22302274, 23454272, 24247255, 24673574, 25584079, 26633545, 26681808, 30420926 ClinVar
SPTLC2 Causal Pathogenic evidence from ClinVar 20920666, 23658386, 26681808 ClinVar
ATL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21194679 -
ATL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24459106 -
DNMT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21532572 -
NGF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NTRK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hereditary Sensory Autonomic Neuropathy, Type 5 C0020075 RETREG1 Causal Pathogenic evidence from ClinVar 19838196 ClinVar
SCN11A Causal Pathogenic evidence from ClinVar - ClinVar
SCN9A Causal Pathogenic evidence from ClinVar 20529343 ClinVar
DNMT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21532572 -
NGF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1317267, 14976160, 15131306, 19038341, 20978020, 22302274 -
NTRK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11310631 -
SCN10A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hereditary Sensory Radicular Neuropathy C0086405 RETREG1 Causal Pathogenic evidence from ClinVar 19838196 ClinVar
DNMT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21532572 -
NGF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NTRK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hereditary sensory and autonomic neuropathy type 7 391397 SCN11A Causal Pathogenic evidence from ClinVar - ClinVar
Hereditary Sensory and Autonomic Neuropathy Type Ie C3279885 DNMT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9449671, 21532572, 23365052, 23904686, 24709307 -
Hereditary sensory and autonomic neuropathy type 5 64752 NGF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NTRK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hereditary sensory and autonomic neuropathy type 4 642 NTRK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hereditary sensory and autonomic neuropathy type 8 478664 PRDM12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation 320385 TECPR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -