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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: 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: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: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA
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, PMID:30311386 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 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        Nervous System Malformations 1100
          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 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          neurodegenerative disease 3201
            Nervous System Heredodegenerative Disorders 1954
              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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.