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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Atp6v0a2 and autosomal recessive cutis laxa type IIA in Heterocephalus glaber.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with ATP6V0A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal recessive cutis laxa type IIA  (DOID:0070134)
  • 0 papers in RGD have been used to annotate Atp6v0a2


    • An association has been curated linking Atp6v0a2 and autosomal recessive cutis laxa type IIA in Heterocephalus glaber.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with ATP6V0A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal recessive cutis laxa type IIA  (DOID:0070134)
  • 0 papers in RGD have been used to annotate Atp6v0a2
  • Curation Notes: ClinVar Annotator: match by term: Cutis laxa with osteodystrophy
  • Original References(s): PMID: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


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