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GENE - TERM ANNOTATION REPORT

RGD ID: 619788
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Trpc6
Name: transient receptor potential cation channel, subfamily C, member 6
Acc ID: DOID:0111129
Term: focal segmental glomerulosclerosis 2
Definition: A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15924139 "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)
Trpc6 ISOTRPC6 (Homo sapiens)7240710OMIM  
Trpc6 ISOTRPC6 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Trpc6 ISOTRPC6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 | ClinVar Annotator: match by term: TRPC6-related conditionPMID:10200986 PMID:15879175 PMID:15924139 PMID:16199547 PMID:16932363 PMID:19129465 PMID:19380626 PMID:19936226 PMID:21734084 PMID:22732337 PMID:22980509 PMID:2298509 PMID:23171048 PMID:23291369 PMID:23645677 PMID:23663351 PMID:25019165 PMID:25741868 PMID:26127002 PMID:26147534 PMID:26467025 PMID:26892346 PMID:27573339 PMID:28117080 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28921387 PMID:29127259 PMID:29700422 PMID:30295827 PMID:30586318 PMID:30655312 PMID:31266804 PMID:31266820 PMID:31576025 PMID:31936014 PMID:31937884 PMID:32509715 PMID:33532864 PMID:33884742 PMID:35051376 PMID:35064937 PMID:35749414 PMID:35913909
Trpc6 ISSTrpc6 (Mus musculus)13592920MouseDOOMIM:603965 
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