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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:hereditary sensory and autonomic neuropathy type 1
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Accession:DOID:0070162 term browser browse the term
Definition:A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. (DO)
Synonyms:exact_synonym: HSAN1;   hereditary sensory and autonomic neuropathy type I
 xref: GARD:6635;   NCI:C170433;   ORDO:36386
For additional species annotation, visit the Alliance of Genome Resources.



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hereditary sensory and autonomic neuropathy type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Neuropathy hereditary sensory and autonomic type 1
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1
ClinVar PMID:9536098 PMID:11242106 PMID:11242114 PMID:11479835 PMID:12417569 More... NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295
JBrowse link
hereditary sensory and autonomic neuropathy type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1A
ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type IA, severe
OMIM
ClinVar
PMID:9536098 PMID:11242106 PMID:11242114 PMID:11479835 PMID:12417569 More... NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295
JBrowse link
hereditary sensory and autonomic neuropathy type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahsa1 activator of Hsp90 ATPase activity 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:106,913,296...106,921,347
Ensembl chr 6:106,913,530...106,921,345
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284
JBrowse link
G Ism2 isthmin 2 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:106,921,213...106,944,291
Ensembl chr 6:106,926,175...106,944,514
JBrowse link
G Noxred1 NADP-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:106,862,350...106,888,113
Ensembl chr 6:106,862,343...106,884,712
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
JBrowse link
G Samd15 sterile alpha motif domain containing 15 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:106,841,405...106,860,446
Ensembl chr 6:106,840,781...106,860,423
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IC
ClinVar Annotator: match by OMIM:613640
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:19564159 PMID:20920666 PMID:23658386 More... NCBI chr 6:106,948,681...107,031,584
Ensembl chr 6:106,950,949...107,031,542
JBrowse link
G Tmed8 transmembrane p24 trafficking protein family member 8 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:106,806,973...106,841,271
Ensembl chr 6:106,810,420...106,843,216
JBrowse link
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
JBrowse link
hereditary sensory neuropathy type 1D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary sensory neuropathy type 1D
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
ClinVar Annotator: match by OMIM:613708
OMIM
ClinVar
PMID:21194679 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
JBrowse link
hereditary sensory neuropathy type 1E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE
ClinVar Annotator: match by OMIM:614116
ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy
OMIM
ClinVar
PMID:7898717 PMID:9536098 PMID:10210919 PMID:17576681 PMID:21532572 More... NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Shfl shiftless antiviral inhibitor of ribosomal frameshifting ISO ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE ClinVar PMID:28492532 NCBI chr 8:19,408,298...19,414,084
Ensembl chr 8:19,408,333...19,413,971
JBrowse link
hereditary sensory neuropathy type 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Hereditary sensory neuropathy type IF
ClinVar Annotator: match by OMIM:615632
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24459106 PMID:24736309 PMID:28166811 More... NCBI chr 1:204,680,958...204,727,360
Ensembl chr 1:204,680,968...204,723,354
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        Nervous System Malformations 1618
          hereditary sensory neuropathy 41
            hereditary sensory and autonomic neuropathy type 1 14
              hereditary sensory and autonomic neuropathy type 1A 1
              hereditary sensory and autonomic neuropathy type 1C 9
              hereditary sensory neuropathy type 1B 0
              hereditary sensory neuropathy type 1D 1
              hereditary sensory neuropathy type 1E 2
              hereditary sensory neuropathy type 1F 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          neurodegenerative disease 3536
            Nervous System Heredodegenerative Disorders 2141
              hereditary sensory neuropathy 41
                hereditary sensory and autonomic neuropathy type 1 14
                  hereditary sensory and autonomic neuropathy type 1A 1
                  hereditary sensory and autonomic neuropathy type 1C 9
                  hereditary sensory neuropathy type 1B 0
                  hereditary sensory neuropathy type 1D 1
                  hereditary sensory neuropathy type 1E 2
                  hereditary sensory neuropathy type 1F 1
paths to the root