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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Col4a1 and Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps in Ictidomys tridecemlineatus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps  (DOID:9003529)
  • 0 papers in RGD have been used to annotate Col4a1


    • An association has been curated linking Col4a1 and Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps in Ictidomys tridecemlineatus.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps  (DOID:9003529)
  • 0 papers in RGD have been used to annotate Col4a1
  • Curation Notes: ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | ClinVar Annotator: match by term: HANAC-like syndrome
  • Original References(s): PMID:16159887 PMID:16199547 PMID:17030722 PMID:17078022 PMID:17576681 PMID:18077766 PMID:18160688 PMID:1867713 PMID:19344236 PMID:19477666 PMID:20301768 PMID:20385946 PMID:20733150 PMID:20818663 PMID:21527998 PMID:21625620 PMID:22522439 PMID:22574627 PMID:22914737 PMID:23065703 PMID:23225343 PMID:24374867 PMID:24628545 PMID:25228067 PMID:25457163 PMID:25741868 PMID:26310487 PMID:26467025 PMID:27794444 PMID:28492532 PMID:29137252 PMID:29602769 PMID:29770612 PMID:30087447 PMID:30413629 PMID:30653986 PMID:31051113 PMID:31069529 PMID:31230195 PMID:31719132 PMID:31922066 PMID:32732225 PMID:33353976 PMID:33527515 PMID:33532864 PMID:34114234 PMID:35711275 PMID:36035189 PMID:3691802 PMID:37830085 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:9724608


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