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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking ATP6V0A4 and Distal Renal Tubular Acidosis 3, Autosomal Recessive in Pan paniscus.        

  • 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 ATP6V0A4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Distal Renal Tubular Acidosis 3, Autosomal Recessive  (DOID:9005808)
  • 0 papers in RGD have been used to annotate ATP6V0A4


    • An association has been curated linking ATP6V0A4 and Distal Renal Tubular Acidosis 3, Autosomal Recessive in Pan paniscus.        

  • 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 ATP6V0A4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Distal Renal Tubular Acidosis 3, Autosomal Recessive  (DOID:9005808)
  • 0 papers in RGD have been used to annotate ATP6V0A4
  • Curation Notes: ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive | ClinVar Annotator: match by term: RTA, distal, autosomal recessive | ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
  • Original References(s): PMID:10973252 PMID:12414817 PMID:16611712 PMID:17576681 PMID:18632794 PMID:19364879 PMID:23754897 PMID:24033266 PMID:24252324 PMID:25741868 PMID:25741915 PMID:26208211 PMID:27247958 PMID:28188436 PMID:28492532 PMID:29024829 PMID:29202719 PMID:29311258 PMID:29398133 PMID:29627839 PMID:30230413 PMID:31589614 PMID:31738409 PMID:31959358 PMID:32613277 PMID:34159584 PMID:35738466 PMID:9536098


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