Send us a Message



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

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:0070134
Term: autosomal recessive cutis laxa type IIA
Definition: An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18157129 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/19401719 "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)7240710OMIM  
Atp6v0a2 ISOATP6V0A2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cutis laxa with osteodystrophyPMID:15657616 PMID:16199547 PMID:17576681 PMID:18157129 PMID:19321599 PMID:20301755 PMID:22773132 PMID:24815019 PMID:25741868 PMID:26467025 PMID:27896089 PMID:28492532 PMID:31980526 PMID:9536098
Go Back to source page   Continue to Ontology report