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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking HPRT1 and HRPT-related hyperuricemia 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 HPRT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to HRPT-related hyperuricemia  (DOID:0112127)
  • 0 papers in RGD have been used to annotate HPRT1


    • An association has been curated linking HPRT1 and HRPT-related hyperuricemia 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 HPRT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to HRPT-related hyperuricemia  (DOID:0112127)
  • 0 papers in RGD have been used to annotate HPRT1
  • Curation Notes: ClinVar Annotator: match by term: HPRT1-Related Disorders | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
  • Original References(s): PMID:10518289 PMID:10737990 PMID:10767182 PMID:11018746 PMID:11068166 PMID:11891689 PMID:1301916 PMID:1483694 PMID:1487231 PMID:15386453 PMID:15505382 PMID:1551676 PMID:15571220 PMID:1618489 PMID:16199547 PMID:16549399 PMID:17027311 PMID:17454734 PMID:17483691 PMID:17576681 PMID:1781350 PMID:1840549 PMID:18600506 PMID:18779430 PMID:19016344 PMID:1937471 PMID:20176575 PMID:20638392 PMID:2071157 PMID:20981450 PMID:22132984 PMID:22157001 PMID:2246854 PMID:22999896 PMID:2323782 PMID:2347587 PMID:2358296 PMID:23597535 PMID:23975452 PMID:25136576 PMID:2516172 PMID:25481104 PMID:25741868 PMID:27288985 PMID:2738157 PMID:28045594 PMID:28492532 PMID:2896620 PMID:29185864 PMID:2928313 PMID:3198771 PMID:3358423 PMID:3384338 PMID:6087154 PMID:6204922 PMID:6309910 PMID:6706936 PMID:7987318 PMID:8111415 PMID:8125482 PMID:9288634 PMID:9536098 PMID:9799086


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