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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Nphp3 and Renal-Hepatic-Pancreatic Dysplasia 1 in Mus musculus.        

  • 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 NPHP3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Renal-Hepatic-Pancreatic Dysplasia 1  (DOID:9001991)
  • 13 papers in RGD have been used to annotate Nphp3


    • An association has been curated linking Nphp3 and Renal-Hepatic-Pancreatic Dysplasia 1 in Mus musculus.        

  • 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 NPHP3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Renal-Hepatic-Pancreatic Dysplasia 1  (DOID:9001991)
  • 13 papers in RGD have been used to annotate Nphp3
  • Curation Notes: ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1
  • Original References(s): PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18076122 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:28991257 PMID:30002499 PMID:30586318 PMID:31131822 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32173348 PMID:32552793 PMID:33323469 PMID:33532864 PMID:34031707 PMID:34212438 PMID:34426522 PMID:8874114 PMID:9536098


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