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GENE - TERM ANNOTATION REPORT

RGD ID: 7380236
Species: Homo sapiens
RGD Object: Gene
Symbol: TTC21B-AS1
Name: TTC21B antisense RNA 1
Acc ID: DOID:0070155
Term: hereditary sensory and autonomic neuropathy type 2A
Definition: A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/14152533 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15060842 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
TTC21B-AS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2APMID:17470132 PMID:17561957 PMID:18479393 PMID:19400878 PMID:21719429 PMID:25439579 PMID:25524840 PMID:25995458 PMID:28492532
TTC21B-AS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2APMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21719429 PMID:23662938 PMID:26068938 PMID:28379373 PMID:28492532
TTC21B-AS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2APMID:17561957 PMID:18479393 PMID:19400878 PMID:21719429 PMID:25253744 PMID:25524840 PMID:28492532
TTC21B-AS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2APMID:23016767 PMID:28492532
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