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GENE - TERM ANNOTATION REPORT

RGD ID: 18909080
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Atp6v0a2
Name: ATPase H+ transporting V0 subunit a2
Acc ID: DOID:3144
Term: cutis laxa
Definition: A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Cutis_laxa "DO" "DO", http://ghr.nlm.nih.gov/condition/cutis-laxa "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/175/viewAbstract "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)
Atp6v0a2 ISOATP6V0A2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cutis laxaPMID:15657616 PMID:18157129 PMID:19321599 PMID:20301755 PMID:22773132 PMID:25741868 PMID:27896089 PMID:28492532 PMID:31980526
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