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GENE - TERM ANNOTATION REPORT

RGD ID: 13983784
Species: Sus scrofa
RGD Object: Gene
Symbol: TRPM4
Name: transient receptor potential cation channel subfamily M member 4
Acc ID: DOID:0111076
Term: progressive familial heart block type IB
Definition: A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19726882 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/897853 "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)
TRPM4 ISOTRPM4 (Homo sapiens)7240710OMIM  
TRPM4 ISOTRPM4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB | ClinVar Annotator: match by term: TRPM4-related conditionPMID:16199547 PMID:17576681 PMID:19726882 PMID:20075334 PMID:20562447 PMID:21173080 PMID:21887725 PMID:22750058 PMID:23382873 PMID:24019741 PMID:25231975 PMID:25299611 PMID:25416190 PMID:25441424 PMID:25467552 PMID:25640679 PMID:25741868 PMID:26046366 PMID:26272755 PMID:26350513 PMID:26383259 PMID:26636822 PMID:26704558 PMID:26820365 PMID:27181684 PMID:27207958 PMID:27711072 PMID:27727376 PMID:27884173 PMID:28074886 PMID:28315637 PMID:28341588 PMID:28492532 PMID:28494446 PMID:28750076 PMID:28831623 PMID:29181379 PMID:29247119 PMID:29568272 PMID:29618732 PMID:29706348 PMID:29748318 PMID:30021168 PMID:30086531 PMID:30142439 PMID:30391667 PMID:30528822 PMID:30535908 PMID:30615648 PMID:30662450 PMID:30847666 PMID:30975432 PMID:32233023 PMID:32508047 PMID:33466149 PMID:33673806 PMID:33895855 PMID:33919104 PMID:34495297 PMID:35288587 PMID:35932045 PMID:36352534 PMID:619595 PMID:897853 PMID:9536098
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