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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


show annotations for term's descendants           Sort by:
hereditary sensory and autonomic neuropathy type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPN asporin ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:28492532 NCBI chr 9:63,579,188...63,605,811
Ensembl chr 9:91,651,629...91,677,969 		JBrowse link
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:28492532 NCBI chr 9:63,834,515...63,890,904
Ensembl chr 9:91,909,771...91,959,131 		JBrowse link
G CENPP centromere protein P ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:28492532 NCBI chr 9:63,447,366...63,743,316 JBrowse link
G ECM2 extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:28492532 NCBI chr 9:63,617,088...63,659,055
Ensembl chr 9:91,691,721...91,718,230 		JBrowse link
G IARS1 isoleucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:28492532 NCBI chr 9:63,332,030...63,415,567
Ensembl chr 9:91,406,008...91,489,167 		JBrowse link
G IPPK inositol-pentakisphosphate 2-kinase ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:28492532 NCBI chr 9:63,737,324...63,793,348
Ensembl chr 9:91,808,757...91,864,773 		JBrowse link
G NOL8 nucleolar protein 8 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:28492532 NCBI chr 9:63,419,188...63,447,316
Ensembl chr 9:91,493,241...91,519,621 		JBrowse link
G OGN osteoglycin ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:28492532 NCBI chr 9:63,505,165...63,527,761
Ensembl chr 9:91,578,833...91,600,738 		JBrowse link
G OMD osteomodulin ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:28492532 NCBI chr 9:63,537,522...63,547,592
Ensembl chr 9:91,611,158...91,613,668 		JBrowse link
G PRSS47P Putative serine protease 47 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:28492532 NCBI chr 9:63,241,482...63,246,209 JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:8673084 PMID:9536098 PMID:11242106 PMID:11242114 PMID:11479835 More... NCBI chr 9:63,087,798...63,174,977 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: Hereditary Sensory Neuropathy Type IA | 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:8673084 PMID:9536098 PMID:11242106 PMID:11242114 PMID:11479835 More... NCBI chr 9:63,087,798...63,174,977 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: Neuropathy, hereditary sensory and autonomic, type 1C ClinVar PMID:28492532 NCBI chr14:58,013,264...58,024,856
Ensembl chr14:77,214,016...77,225,215 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C ClinVar PMID:28492532 NCBI chr14:57,874,184...57,901,397
Ensembl chr14:77,075,814...77,086,530 		JBrowse link
G ISM2 isthmin 2 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C ClinVar PMID:28492532 NCBI chr14:58,029,440...58,053,073
Ensembl chr14:77,230,069...77,252,368 		JBrowse link
G NOXRED1 NADP dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C ClinVar PMID:28492532 NCBI chr14:57,946,614...57,979,637
Ensembl chr14:77,148,487...77,179,648 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C ClinVar PMID:28492532 NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806 		JBrowse link
G SAMD15 sterile alpha motif domain containing 15 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C ClinVar PMID:28492532 NCBI chr14:57,930,369...58,007,893
Ensembl chr14:77,131,795...77,145,765 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO ClinVar Annotator: match by term: HSN IC | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17081983 PMID:17576681 PMID:19564159 More... NCBI chr14:58,066,123...58,170,472
Ensembl chr14:77,266,545...77,370,663 		JBrowse link
G TMED8 transmembrane p24 trafficking protein family member 8 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C ClinVar PMID:28492532 NCBI chr14:57,888,235...57,930,615
Ensembl chr14:77,096,398...77,132,037 		JBrowse link
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C ClinVar PMID:28492532 NCBI chr14:57,982,041...58,013,037
Ensembl chr14:77,183,185...77,213,382 		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: Neuropathy, hereditary sensory, type 1D OMIM
ClinVar		 PMID:20862796 PMID:21194679 PMID:23664116 PMID:25741868 PMID:26467025 More... NCBI chr14:31,122,551...31,222,537
Ensembl chr14:49,476,733...49,524,392 		JBrowse link
G MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1D ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:31,008,177...31,122,127
Ensembl chr14:49,311,733...49,425,520 		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: Dementia, Deafness, and Sensory Neuropathy | ClinVar Annotator: match by term: HSN IE | ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA OMIM
ClinVar		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:16199547 More... NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972 		JBrowse link
G SHFL shiftless antiviral inhibitor of ribosomal frameshifting ISO ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA ClinVar PMID:28492532 NCBI chr19:9,634,718...9,641,824
Ensembl chr19:10,293,967...10,301,067 		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: Neuropathy, hereditary sensory, type 1F OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21494555 PMID:24459106 More... NCBI chr11:58,980,645...59,029,720
Ensembl chr11:62,337,788...62,380,598 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Nervous System Malformations 2357
          hereditary sensory neuropathy 51
            hereditary sensory and autonomic neuropathy type 1 25
              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 2
              hereditary sensory neuropathy type 1E 2
              hereditary sensory neuropathy type 1F 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          neurodegenerative disease 4736
            Nervous System Heredodegenerative Disorders 3270
              hereditary sensory neuropathy 51
                hereditary sensory and autonomic neuropathy type 1 25
                  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 2
                  hereditary sensory neuropathy type 1E 2
                  hereditary sensory neuropathy type 1F 1
paths to the root