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GENE - TERM ANNOTATION REPORT

RGD ID: 735015
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dsg4
Name: desmoglein 4
Acc ID: DOID:0110703
Term: hypotrichosis 6
Definition: A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1. (DO)
Definition Source(s): PMID:12891384 "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)
Dsg4 ISODSG4 (Homo sapiens)7240710OMIM  
Dsg4 ISODSG4 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Dsg4 ISODSG4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DSG4-related condition | ClinVar Annotator: match by term: Hypotrichosis 6PMID:12705872 PMID:15191570 PMID:16439973 PMID:16543896 PMID:16575393 PMID:17392831 PMID:25251037 PMID:25741868 PMID:26173648 PMID:28492532 PMID:29796690
Dsg4 ISSDsg4 (Mus musculus)13592920MouseDOOMIM:607903 
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