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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Sptlc1 and Charcot-Marie-Tooth disease 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 SPTLC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 660 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 7 papers in RGD have been used to annotate Sptlc1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:11242106 PMID:11242114 PMID:11479835 PMID:12417569 PMID:13646503 PMID:14152213 PMID:15037712 PMID:15546589 PMID:16210380 PMID:16364956 PMID:18018475 PMID:19132419 PMID:19555464 PMID:19651702 PMID:19923297 PMID:20097765 PMID:20504773 PMID:21618344 PMID:22302274 PMID:23454272 PMID:24247255 PMID:24604904 PMID:24673574 PMID:25584079 PMID:25741868 PMID:26467025 PMID:26681808 PMID:28166811 PMID:28492532 PMID:31509666 PMID:32376792 PMID:32581362


    • An association has been curated linking Sptlc1 and Charcot-Marie-Tooth disease 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 SPTLC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 660 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 7 papers in RGD have been used to annotate Sptlc1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:11242106 PMID:11242114 PMID:11479835 PMID:11781309 PMID:12417569 PMID:13646503 PMID:14152213 PMID:14990347 PMID:15037712 PMID:15546589 PMID:16210380 PMID:16364956 PMID:18018475 PMID:19132419 PMID:19555464 PMID:19651702 PMID:19923297 PMID:20097765 PMID:20301564 PMID:20504773 PMID:21618344 PMID:22302274 PMID:23454272 PMID:24247255 PMID:24604904 PMID:24673574 PMID:24711860 PMID:25042817 PMID:25584079 PMID:25741868 PMID:26467025 PMID:26681808 PMID:27164712 PMID:28492532 PMID:30420926 PMID:31509666 PMID:32376792 PMID:32399692 PMID:32581362 PMID:34103343 PMID:34459874 PMID:34986032 PMID:8673084


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