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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking ATP6V1B1 and Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness 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 ATP6V1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness  (DOID:9000683)
  • 0 papers in RGD have been used to annotate ATP6V1B1


    • An association has been curated linking ATP6V1B1 and Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness 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 ATP6V1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness  (DOID:9000683)
  • 0 papers in RGD have been used to annotate ATP6V1B1
  • Curation Notes: ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness
  • Original References(s): PMID:12414817 PMID:12566520 PMID:12579397 PMID:16199547 PMID:16433694 PMID:16611712 PMID:16769747 PMID:17576681 PMID:17669226 PMID:18368028 PMID:18798332 PMID:20805693 PMID:21614596 PMID:22509993 PMID:22966473 PMID:23923981 PMID:24033266 PMID:24448499 PMID:24975934 PMID:25164082 PMID:25285676 PMID:25296721 PMID:25498251 PMID:25741868 PMID:25741914 PMID:26453614 PMID:26467025 PMID:27247958 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28893421 PMID:29310826 PMID:29627839 PMID:30076350 PMID:30311386 PMID:30558562 PMID:31949730 PMID:31959358 PMID:34159584 PMID:35738466 PMID:8651253 PMID:9536098 PMID:9916796


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