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GENE - TERM ANNOTATION REPORT

RGD ID: 61836
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Clcn7
Name: chloride voltage-gated channel 7
Acc ID: DOID:13533
Term: osteopetrosis
Definition: An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Osteopetrosis "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)
Clcn7 ISOClcn7 (Mus musculus)737783RGD  
Clcn7 ISOCLCN7 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Clcn7 ISOCLCN7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Albers-Schoenberg disease | ClinVar Annotator: match by term: OsteopetrosisPMID:11741829 PMID:14584882 PMID:15111300 PMID:16234969 PMID:17164308 PMID:19543743 PMID:20301306 PMID:21527911 PMID:21962762 PMID:23983121 PMID:25410126 PMID:25741868 PMID:25741905 PMID:26365571 PMID:28492532 PMID:29595814 PMID:30942407 PMID:31412925 PMID:32369273
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