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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:11242106 PMID:11242114 PMID:11479835 PMID:12417569 PMID:13646503 PMID:14152213 PMID:15037712 PMID:15546589 PMID:16210380 PMID:16364956 PMID:18018475 PMID:19132419 PMID:19651702 PMID:19923297 PMID:20097765 PMID:20504773 PMID:21618344 PMID:22302274 PMID:23454272 PMID:24088041 PMID:24247255 PMID:24673574 PMID:25584079 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26681808 PMID:28492532 PMID:30373780 PMID:31509666 PMID:32581362 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566
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 IA, severe
ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1A
OMIM
ClinVar
PMID:11242106 PMID:11242114 PMID:11479835 PMID:12417569 PMID:13646503 PMID:14152213 PMID:15037712 PMID:15546589 PMID:16210380 PMID:16364956 PMID:18018475 PMID:18077166 PMID:19132419 PMID:19651702 PMID:19923297 PMID:20097765 PMID:20504773 PMID:21618344 PMID:22302274 PMID:23454272 PMID:24247255 PMID:24673574 PMID:25584079 PMID:25741868 PMID:26467025 PMID:26681808 PMID:28492532 PMID:31509666 PMID:32581362 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566
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 6:111,296,168...111,304,224
Ensembl chr 6:111,296,417...111,304,224
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 6:111,176,798...111,187,246
Ensembl chr 6:111,176,798...111,187,244
JBrowse link
G Ism2 isthmin 2 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:111,309,054...111,329,967
Ensembl chr 6:111,310,060...111,329,882
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 6:111,243,232...111,271,107
Ensembl chr 6:111,243,228...111,267,734
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 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
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 6:111,223,026...111,241,326
Ensembl chr 6:111,223,026...111,241,303
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IC
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC
ClinVar Annotator: match by OMIM:613640
OMIM
ClinVar
PMID:19564159 PMID:20920666 PMID:23658386 PMID:24175284 PMID:25567748 PMID:25741868 PMID:26467025 PMID:26573920 PMID:26681808 PMID:27549087 PMID:28492532 PMID:29042446 PMID:29184351 PMID:30866134 PMID:30955194 PMID:31509666 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954
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 6:111,188,938...111,222,866
Ensembl chr 6:111,194,951...111,222,858
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 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
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:28492532 NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
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:10210919 PMID:21532572 PMID:22328086 PMID:23365052 PMID:24727570 PMID:25326637 PMID:25678562 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30165906 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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:24459106 PMID:24736309 PMID:28492532 PMID:30680846 NCBI chr 1:222,746,023...222,788,439
Ensembl chr 1:222,746,023...222,786,942
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        Nervous System Malformations 1050
          hereditary sensory neuropathy 27
            hereditary sensory and autonomic neuropathy type 1 13
              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 1
              hereditary sensory neuropathy type 1F 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          neurodegenerative disease 3220
            Nervous System Heredodegenerative Disorders 1911
              hereditary sensory neuropathy 27
                hereditary sensory and autonomic neuropathy type 1 13
                  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 1
                  hereditary sensory neuropathy type 1F 1
paths to the root