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GENE - TERM ANNOTATION REPORT

RGD ID: 1309942
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Trpm6
Name: transient receptor potential cation channel, subfamily M, member 6
Acc ID: DOID:0060883
Term: intestinal hypomagnesemia 1
Definition: A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12032568 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/12032570 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/18818955 "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)
Trpm6 ISOTRPM6 (Homo sapiens)7240710OMIM  
Trpm6 ISOTRPM6 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Trpm6 ISOTRPM6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HYPOMAGNESEMIC TETANY | ClinVar Annotator: match by term: Intestinal hypomagnesemia 1PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 PMID:23942199 PMID:24030239 PMID:24985022 PMID:25741868 PMID:26813946 PMID:28492532 PMID:33565749 PMID:34906502 PMID:9285786
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