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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SLC52A2 and Brown-Vialetto-Van Laere syndrome 2 in Pan paniscus.        

  • 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 SLC52A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 51 RGD objects have been annotated to Brown-Vialetto-Van Laere syndrome 2  (DOID:0080786)
  • 0 papers in RGD have been used to annotate SLC52A2


  • An association has been curated linking SLC52A2 and Brown-Vialetto-Van Laere syndrome 2 in Pan paniscus.        

  • 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 SLC52A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 51 RGD objects have been annotated to Brown-Vialetto-Van Laere syndrome 2  (DOID:0080786)
  • 0 papers in RGD have been used to annotate SLC52A2
  • Curation Notes: ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 | ClinVar Annotator: match by term: Riboflavin transporter deficiency type 2
  • Original References(s): PMID:10797435 PMID:16199547 PMID:17576681 PMID:20301336 PMID:20447487 PMID:21109228 PMID:22740598 PMID:22824638 PMID:22864630 PMID:23107375 PMID:23243084 PMID:23289980 PMID:24033266 PMID:24253200 PMID:24616084 PMID:25133958 PMID:25356970 PMID:25741868 PMID:25798182 PMID:25807286 PMID:26633542 PMID:26669662 PMID:27148561 PMID:27518768 PMID:28116953 PMID:28251916 PMID:28492532 PMID:28781516 PMID:28824526 PMID:29053833 PMID:29287867 PMID:29858556 PMID:29913018 PMID:29915382 PMID:29961509 PMID:30343981 PMID:30377535 PMID:31064337 PMID:31152317 PMID:32827528 PMID:33036493 PMID:33201363 PMID:33258288 PMID:34428344 PMID:34602496 PMID:9536098


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