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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Nipa1 and hereditary spastic paraplegia 6 in Chinchilla lanigera.        

  • 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 NIPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to hereditary spastic paraplegia 6  (DOID:0110811)
  • 2 papers in RGD have been used to annotate Nipa1
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 | ClinVar Annotator: match by term: NIPA1-related condition
  • Original References(s): PMID:14508710 PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 PMID:17268193 PMID:17928003 PMID:18191948 PMID:19091982 PMID:19620182 PMID:20816793 PMID:21419568 PMID:21599812 PMID:22302102 PMID:22378146 PMID:23032108 PMID:23850684 PMID:24075313 PMID:24128679 PMID:25341883 PMID:25689425 PMID:25741868 PMID:26467025 PMID:27084228 PMID:28492532 PMID:28832565 PMID:29934652 PMID:31104286 PMID:31630374 PMID:32500351 PMID:32581362 PMID:7825577


    • An association has been curated linking Nipa1 and hereditary spastic paraplegia 6 in Chinchilla lanigera.        

  • 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 NIPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to hereditary spastic paraplegia 6  (DOID:0110811)
  • 2 papers in RGD have been used to annotate Nipa1


    • An association has been curated linking Nipa1 and hereditary spastic paraplegia 6 in Chinchilla lanigera.        

  • 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 NIPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to hereditary spastic paraplegia 6  (DOID:0110811)
  • 2 papers in RGD have been used to annotate Nipa1
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 | ClinVar Annotator: match by term: NIPA1-related condition
  • Original References(s): PMID:14508710 PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 PMID:17268193 PMID:17928003 PMID:18191948 PMID:19091982 PMID:19620182 PMID:20816793 PMID:21599812 PMID:22302102 PMID:22378146 PMID:23032108 PMID:23850684 PMID:24075313 PMID:24128679 PMID:25689425 PMID:25741868 PMID:26467025 PMID:27084228 PMID:28492532 PMID:28832565 PMID:29934652 PMID:31104286 PMID:31630374 PMID:32500351 PMID:32501971 PMID:32581362 PMID:7825577


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