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GENE - TERM ANNOTATION REPORT

RGD ID: 3630
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Scn11a
Name: sodium voltage-gated channel alpha subunit 11
Acc ID: DOID:0070149
Term: hereditary sensory and autonomic neuropathy type 7
Definition: A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24036948 "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)
Scn11a ISOSCN11A (Homo sapiens)7240710OMIM  
Scn11a ISOSCN11A (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Scn11a ISOSCN11A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HSAN VII | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VIIPMID:16199547 PMID:17576681 PMID:24036948 PMID:24207120 PMID:24776970 PMID:25118027 PMID:25741868 PMID:25791876 PMID:26220970 PMID:26423924 PMID:26746779 PMID:27224030 PMID:27503742 PMID:27781142 PMID:28166811 PMID:28289907 PMID:28298626 PMID:28492532 PMID:28518168 PMID:29213238 PMID:29389947 PMID:29419974 PMID:30046661 PMID:30395542 PMID:30533233 PMID:30554136 PMID:30557356 PMID:32461654 PMID:32581362 PMID:34169998 PMID:34356170 PMID:9536098
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