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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 1C
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Accession:DOID:0070157 term browser browse the term
Definition:A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. (DO)
Synonyms:exact_synonym: HSAN IC;   HSAN1C;   HSN IC;   HSN1C;   hereditary sensory and autonomic neuropathy, type IC;   hereditary sensory and autonomic neuropathy, type IC, severe;   hereditary sensory neuropathy, type IC
 primary_id: MIM:613640
 alt_id: RDO:0009923

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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 chr24:54,719,399...54,730,783
Ensembl chr24:54,719,414...54,730,848 		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 chr24:54,567,594...54,578,262
Ensembl chr24:54,567,655...54,579,613 		JBrowse link
G ISM2 isthmin 2 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C ClinVar PMID:28492532 NCBI chr24:54,735,712...54,757,242 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 chr24:54,653,026...54,684,940
Ensembl chr24:54,653,629...54,684,070 		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 chr24:54,519,980...54,567,584
Ensembl chr24:54,519,754...54,567,584 		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 chr24:54,636,263...54,650,295
Ensembl chr24:54,636,280...54,650,239 		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 chr24:54,769,072...54,876,963 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 chr24:54,595,024...54,636,235 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 chr24:54,688,278...54,719,054
Ensembl chr24:54,688,230...54,719,042 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13213
        Nervous System Malformations 2412
          hereditary sensory neuropathy 51
            hereditary sensory and autonomic neuropathy type 1 25
              hereditary sensory and autonomic neuropathy type 1C 9
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13213
        central nervous system disease 11794
          neurodegenerative disease 4777
            Nervous System Heredodegenerative Disorders 3306
              hereditary sensory neuropathy 51
                hereditary sensory and autonomic neuropathy type 1 25
                  hereditary sensory and autonomic neuropathy type 1C 9
paths to the root