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GENE - TERM ANNOTATION REPORT

RGD ID: 11925018
Species: Pan paniscus
RGD Object: Gene
Symbol: PJVK
Name: pejvakin
Acc ID: DOID:0050565
Term: autosomal recessive nonsyndromic deafness
Definition: A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness "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)
PJVK ISOPJVK (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessivePMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:25741868 PMID:28492532 PMID:30303587 PMID:32747562
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