Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

VARIANT - TERM ANNOTATION REPORT

RGD ID: 8608719
Species: Homo sapiens
RGD Object: Variant
Symbol: CV55022
Name: NM_002230.4(JUP):c.777C>T (p.Gly259=)
Acc ID: DOID:0080551
Term: Naxos disease
Definition: A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair#genes "DO" "DO", https://rarediseases.info.nih.gov/diseases/9795/disease "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/29747658 "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)
CV55022 IAGP 8554872ClinVarClinVar Annotator: match by term: Naxos diseasePMID:24033266 PMID:25741868 PMID:28492532
Go Back to source page   Continue to Ontology report