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GENE - TERM ANNOTATION REPORT

RGD ID: 12517979
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Trpm4
Name: transient receptor potential cation channel subfamily M member 4
Acc ID: DOID:0080766
Term: erythrokeratodermia variabilis et progressiva 6
Definition: An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/30528822/ "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: Erythrokeratodermia variabilis et progressiva 6PMID:16199547 PMID:17576681 PMID:25299611 PMID:25741868 PMID:26046366 PMID:26820365 PMID:28315637 PMID:28492532 PMID:29247119 PMID:29568272 PMID:30142439 PMID:30391667 PMID:30528822 PMID:30535908 PMID:30615648 PMID:30847666 PMID:32233023 PMID:35288587 PMID:9536098
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