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ONTOLOGY REPORT - ANNOTATIONS


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: OMIM:613640
 alt_id: RDO:0009923
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hereditary sensory and autonomic neuropathy type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahsa1 activator of Hsp90 ATPase activity 1 JBrowse link 6 111,296,168 111,304,224 RGD:8554872
G Gstz1 glutathione S-transferase zeta 1 JBrowse link 6 111,176,798 111,187,246 RGD:8554872
G Ism2 isthmin 2 JBrowse link 6 111,309,054 111,329,967 RGD:8554872
G Noxred1 NADP-dependent oxidoreductase domain containing 1 JBrowse link 6 111,243,232 111,271,107 RGD:8554872
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
G Samd15 sterile alpha motif domain containing 15 JBrowse link 6 111,223,026 111,241,326 RGD:8554872
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 JBrowse link 6 111,334,408 111,417,960 RGD:7240710
RGD:8554872
G Tmed8 transmembrane p24 trafficking protein family member 8 JBrowse link 6 111,188,938 111,222,866 RGD:8554872
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        Nervous System Malformations 741
          hereditary sensory neuropathy 29
            hereditary sensory and autonomic neuropathy type 1 12
              hereditary sensory and autonomic neuropathy type 1C 9
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              hereditary sensory neuropathy 29
                hereditary sensory and autonomic neuropathy type 1 12
                  hereditary sensory and autonomic neuropathy type 1C 9
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.