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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking GAA and Familial Cirrhosis with Deposition of Abnormal Glycogen in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8557854 (Homo sapiens)
  • 2 RGD objects have been annotated to Familial Cirrhosis with Deposition of Abnormal Glycogen  (DOID:9007811)
  • 9 papers in RGD have been used to annotate GAA
  • Curation Notes: ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen
  • Original References(s): PMID:11071489 PMID:14695532 PMID:15986226 PMID:16133732 PMID:16433701 PMID:16531044 PMID:16702877 PMID:16917947 PMID:17210890 PMID:17616415 PMID:17643989 PMID:17723315 PMID:18425781 PMID:18607768 PMID:19588081 PMID:20301438 PMID:20350966 PMID:20559845 PMID:21109266 PMID:21228398 PMID:21439876 PMID:21550241 PMID:21967859 PMID:22595200 PMID:22613277 PMID:22676651 PMID:22975760 PMID:23417379 PMID:24008051 PMID:24150945 PMID:24158270 PMID:24245577 PMID:24510945 PMID:24590251 PMID:24844452 PMID:2510307 PMID:25103075 PMID:25356970 PMID:25741868 PMID:25846667 PMID:26231297 PMID:26800218 PMID:27170567 PMID:27189384 PMID:27460347 PMID:27649523 PMID:27708273 PMID:28032299 PMID:28492532 PMID:28694071 PMID:28951071 PMID:29181627 PMID:29326002 PMID:30275481 PMID:30314719 PMID:30564623 PMID:30655185 PMID:30827497 PMID:31086307 PMID:31676142 PMID:31980526 PMID:32012848 PMID:32071926 PMID:32528171 PMID:32721234 PMID:32860008 PMID:34906502 PMID:7668832 PMID:7717400 PMID:7881425 PMID:8558570 PMID:8990003


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