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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking FKRP and congenital muscular dystrophy-dystroglycanopathy type A1 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 FKRP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A1  (DOID:0111237)
  • 0 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • Original References(s): PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:14647208 PMID:14652796 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833426 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16717227 PMID:17113772 PMID:17336067 PMID:17351538 PMID:17446099 PMID:17554798 PMID:17994539 PMID:18036232 PMID:18414213 PMID:18639457 PMID:18645206 PMID:18671187 PMID:18691338 PMID:18832576 PMID:19299310 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20675713 PMID:20961759 PMID:21296577 PMID:21816046 PMID:21886772 PMID:22451200 PMID:23420653 PMID:23591631 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25135358 PMID:25741868 PMID:25802880 PMID:25976249 PMID:26467025 PMID:26990548 PMID:27142102 PMID:27166760 PMID:27302555 PMID:27439679 PMID:27627455 PMID:27711214 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28482373 PMID:28492532 PMID:28688748 PMID:28931339 PMID:29065428 PMID:29101272 PMID:29858056 PMID:30417025 PMID:30564623 PMID:31041397 PMID:31069529 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:31931849 PMID:32342672 PMID:32403337 PMID:32429923 PMID:32746448 PMID:33077954 PMID:33200426 PMID:34653404 PMID:34935411 PMID:36522254 PMID:37154180 PMID:37526466 PMID:37688281


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