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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking HPRT1 and Lesch-Nyhan Syndrome, Neurologic Variant in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Yamada Y, etal., Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):218-22. doi: 10.1080/15257770.2013.865743.
  • 7 additional annotations were made from Yamada Y, etal., Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):218-22. doi: 10.1080/15257770.2013.865743.
  • 1 RGD objects have been annotated to Lesch-Nyhan Syndrome, Neurologic Variant  (DOID:9005497)
  • 13 papers in RGD have been used to annotate HPRT1
  • Curation Notes: DNA,mRNA:missense mutations,decreased expression:cds:


    • An association has been curated linking HPRT1 and Lesch-Nyhan Syndrome, Neurologic Variant 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:8602087 (Homo sapiens)
  • 1 RGD objects have been annotated to Lesch-Nyhan Syndrome, Neurologic Variant  (DOID:9005497)
  • 13 papers in RGD have been used to annotate HPRT1
  • Curation Notes: ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant
  • Original References(s): PMID:10737990 PMID:1301916 PMID:17454734 PMID:20981450 PMID:22157001 PMID:22999896 PMID:25481104 PMID:25741868 PMID:28492532


    • An association has been curated linking HPRT1 and Lesch-Nyhan Syndrome, Neurologic Variant 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:8598480 (Homo sapiens)
  • 1 RGD objects have been annotated to Lesch-Nyhan Syndrome, Neurologic Variant  (DOID:9005497)
  • 13 papers in RGD have been used to annotate HPRT1
  • Curation Notes: ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant
  • Original References(s): PMID:2358296


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