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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking LOC100993185 and PSPH deficiency 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 PSPH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to PSPH deficiency  (DOID:0050724)
  • 0 papers in RGD have been used to annotate LOC100993185


    • An association has been curated linking LOC100993185 and PSPH deficiency 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 PSPH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to PSPH deficiency  (DOID:0050724)
  • 0 papers in RGD have been used to annotate LOC100993185
  • Curation Notes: ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency
  • Original References(s): PMID:14673469 PMID:16199547 PMID:17576681 PMID:24146633 PMID:25080166 PMID:25741868 PMID:26589312 PMID:26633542 PMID:28492532 PMID:31515488 PMID:9222972 PMID:9536098


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