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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Nphp3 and Meckel syndrome 7 in Rattus norvegicus.        

  • 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 Meckel syndrome 7  (DOID:0070121)
  • 10 papers in RGD have been used to annotate Nphp3


  • An association has been curated linking Nphp3 and Meckel syndrome 7 in Rattus norvegicus.        

  • 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 Meckel syndrome 7  (DOID:0070121)
  • 10 papers in RGD have been used to annotate Nphp3
  • Curation Notes: ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7
  • Original References(s): PMID:12872122 PMID:17576681 PMID:17855640 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:30002499 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32552793 PMID:33323469 PMID:33532864 PMID:9536098


  • An association has been curated linking Nphp3 and Meckel syndrome 7 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with NPHP3 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Meckel syndrome 7  (DOID:0070121)
  • 10 papers in RGD have been used to annotate Nphp3
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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