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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 chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041 		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 chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Cenpp centromere protein P ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:28492532 NCBI chr17:15,014,087...15,189,312
Ensembl chr17:15,014,058...15,189,304 		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 chr17:15,120,194...15,152,536
Ensembl chr17:15,120,196...15,152,516 		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 chr17:14,940,919...14,987,277
Ensembl chr17:14,940,924...14,987,237 		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 chr17:15,190,191...15,235,203
Ensembl chr17:15,190,265...15,229,541 		JBrowse link
G Nol8 nucleolar protein 8 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:28492532 NCBI chr17:14,990,394...15,013,784
Ensembl chr17:14,990,417...15,013,848 		JBrowse link
G Ogn osteoglycin ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:28492532 NCBI chr17:15,032,069...15,052,626
Ensembl chr17:15,032,069...15,052,739 		JBrowse link
G Omd osteomodulin ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:28492532 NCBI chr17:15,060,217...15,068,441
Ensembl chr17:15,060,217...15,068,441 		JBrowse link
G Prss47 serine protease 47 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 ClinVar PMID:28492532 NCBI chr17:139,835...154,263
Ensembl chr17:140,603...154,261 		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 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: 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8673084 PMID:9536098 PMID:11242106 PMID:11242114 PMID:11479835 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: Neuropathy, hereditary sensory and autonomic, type 1C 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: Neuropathy, hereditary sensory and autonomic, type 1C 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: Neuropathy, hereditary sensory and autonomic, type 1C 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: Neuropathy, hereditary sensory and autonomic, type 1C 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: Neuropathy, hereditary sensory and autonomic, type 1C 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: Neuropathy, hereditary sensory and autonomic, type 1C ClinVar PMID:28492532 NCBI chr 6:106,841,405...106,856,197
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: 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17081983 PMID:17576681 PMID:19564159 More... NCBI chr 6:106,948,682...107,031,532
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: Neuropathy, hereditary sensory and autonomic, type 1C 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: Neuropathy, hereditary sensory and autonomic, type 1C 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: Neuropathy, hereditary sensory, type 1D
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20862796 PMID:21194679 PMID:23664116 PMID:25741868 PMID:26467025 More... NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204 		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 chr 6:88,284,087...88,377,118
Ensembl chr 6:88,284,094...88,376,799 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:16199547 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 Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA 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: Neuropathy, hereditary sensory, type 1F
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21494555 PMID:24459106 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 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Nervous System Malformations 2371
          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 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          neurodegenerative disease 4894
            Nervous System Heredodegenerative Disorders 3248
              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