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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking ATP7A and Menkes disease 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 ATP7A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to Menkes disease  (DOID:1838)
  • 0 papers in RGD have been used to annotate ATP7A


    • An association has been curated linking ATP7A and Menkes disease in Canis lupus familiaris.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with ATP7A (Homo sapiens)
  • 8 RGD objects have been annotated to Menkes disease  (DOID:1838)
  • 0 papers in RGD have been used to annotate ATP7A
  • Qualifier: severity
  • Curation Notes: DNA:duplication:exon:
  • Original References(s): PMID:22074552 REF_RGD_ID:12879459


    • An association has been curated linking ATP7A and Menkes disease 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 ATP7A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to Menkes disease  (DOID:1838)
  • 0 papers in RGD have been used to annotate ATP7A
  • Curation Notes: ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes kinky-hair syndrome
  • Original References(s): PMID:10319589 PMID:10570920 PMID:10739752 PMID:11241493 PMID:11350187 PMID:12221109 PMID:12676902 PMID:14635105 PMID:14985388 PMID:15372525 PMID:16083905 PMID:16199547 PMID:16826513 PMID:17108763 PMID:17496194 PMID:17576681 PMID:18414213 PMID:18752978 PMID:19153371 PMID:19194885 PMID:20045993 PMID:20170900 PMID:20301586 PMID:20652413 PMID:21208200 PMID:21494555 PMID:21716286 PMID:22361452 PMID:23281160 PMID:24033266 PMID:25150085 PMID:25428120 PMID:25640679 PMID:25741868 PMID:26117549 PMID:27878136 PMID:28251916 PMID:28389643 PMID:28397151 PMID:28492532 PMID:29653220 PMID:30809870 PMID:31124329 PMID:31319225 PMID:32005694 PMID:32293788 PMID:33999244 PMID:34008892 PMID:7842019 PMID:7977350 PMID:8812725 PMID:8981948 PMID:9246006 PMID:9536098 PMID:9894833


    • An association has been curated linking ATP7A and Menkes disease 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 ATP7A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to Menkes disease  (DOID:1838)
  • 0 papers in RGD have been used to annotate ATP7A
  • Curation Notes: ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes kinky-hair syndrome
  • Original References(s): PMID:10319589 PMID:10393914 PMID:10401004 PMID:10463276 PMID:10570920 PMID:10739752 PMID:11043517 PMID:11241493 PMID:11350187 PMID:11431706 PMID:11472597 PMID:11936860 PMID:12088078 PMID:12221109 PMID:12427520 PMID:12499504 PMID:12537648 PMID:12676902 PMID:12939451 PMID:14635105 PMID:14985388 PMID:15106121 PMID:15184642 PMID:15238919 PMID:15372525 PMID:15517445 PMID:15596607 PMID:15693857 PMID:15981243 PMID:16083905 PMID:16098018 PMID:16199547 PMID:16826513 PMID:17108763 PMID:17427918 PMID:17483305 PMID:17502470 PMID:17576681 PMID:18256395 PMID:18272047 PMID:18414213 PMID:18664244 PMID:18752978 PMID:19153371 PMID:19194885 PMID:19735987 PMID:19768483 PMID:20045102 PMID:20045993 PMID:20170900 PMID:20301586 PMID:20497190 PMID:20652413 PMID:20799318 PMID:20818383 PMID:20932283 PMID:21194679 PMID:21208200 PMID:21321493 PMID:21494555 PMID:21716286 PMID:21738351 PMID:22019070 PMID:22074552 PMID:22206013 PMID:22210628 PMID:22264391 PMID:22361452 PMID:22378671 PMID:22552817 PMID:22573628 PMID:23035047 PMID:23108492 PMID:23217327 PMID:23281160 PMID:24033266 PMID:24630286 PMID:24919650 PMID:25025039 PMID:25150085 PMID:25428120 PMID:25583628 PMID:25640679 PMID:25741868 PMID:25817015 PMID:26117549 PMID:26467025 PMID:27878136 PMID:28119449 PMID:28389643 PMID:28397151 PMID:28451781 PMID:28492532 PMID:29499166 PMID:29653220 PMID:30809870 PMID:31124329 PMID:31319225 PMID:32005694 PMID:32293788 PMID:33999244 PMID:34008892 PMID:34440436 PMID:7842019 PMID:7977350 PMID:8528242 PMID:8812725 PMID:8981948 PMID:9166584 PMID:9246006 PMID:9385451 PMID:9467005 PMID:9536098 PMID:9668166 PMID:9894833


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