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GENE - TERM ANNOTATION REPORT

RGD ID: 621829
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gjb4
Name: gap junction protein, beta 4
Acc ID: DOID:0080248
Term: erythrokeratodermia variabilis et progressiva 2
Definition: An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/12648223/ "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)
Gjb4 ISOGJB4 (Homo sapiens)7240710OMIM  
Gjb4 ISOGJB4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 2PMID:11017804 PMID:11933201 PMID:12648223 PMID:148984 PMID:25741868 PMID:25741909 PMID:28492532 PMID:6437964
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