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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking ATP1A3 and CAPOS Syndrome in Canis lupus familiaris.        

  • 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 ATP1A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CAPOS Syndrome  (DOID:9007693)
  • 0 papers in RGD have been used to annotate ATP1A3


  • An association has been curated linking ATP1A3 and CAPOS Syndrome in Canis lupus familiaris.        

  • 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 ATP1A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CAPOS Syndrome  (DOID:9007693)
  • 0 papers in RGD have been used to annotate ATP1A3
  • Curation Notes: ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
  • Original References(s): PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 PMID:20301294 PMID:20576601 PMID:21911500 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:23483595 PMID:24100174 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24793181 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25326637 PMID:25447930 PMID:25523819 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25944380 PMID:25996915 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26993267 PMID:27268479 PMID:27634470 PMID:27726050 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28647130 PMID:28708303 PMID:28849312 PMID:28901192 PMID:29066118 PMID:29305691 PMID:29397530 PMID:30071271 PMID:30577886 PMID:30657467 PMID:31361359 PMID:31737037 PMID:32581362 PMID:34008892 PMID:34342181 PMID:34459253 PMID:35047275 PMID:36192182 PMID:8733056


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