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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Mttp and abetalipoproteinemia in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Narcisi TM, etal., Am J Hum Genet. 1995 Dec;57(6):1298-310.
  • The annotation has been inferred from sequence orthology with MTTP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Narcisi TM, etal., Am J Hum Genet. 1995 Dec;57(6):1298-310.
  • 3 RGD objects have been annotated to abetalipoproteinemia  (DOID:1386)
  • 17 papers in RGD have been used to annotate Mttp
  • Curation Notes: DNA:missense mutations:cds:multiple (human)


    • An association has been curated linking Mttp and abetalipoproteinemia in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ohashi K, etal., J Lipid Res. 2000 Aug;41(8):1199-204.
  • The annotation has been inferred from sequence orthology with MTTP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ohashi K, etal., J Lipid Res. 2000 Aug;41(8):1199-204.
  • 3 RGD objects have been annotated to abetalipoproteinemia  (DOID:1386)
  • 17 papers in RGD have been used to annotate Mttp
  • Curation Notes: DNA:mutations:cds:multiple (human)


    • An association has been curated linking Mttp and abetalipoproteinemia in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Berthier MT, etal., Mol Genet Metab. 2004 Feb;81(2):140-3.
  • The annotation has been inferred from sequence orthology with MTTP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Berthier MT, etal., Mol Genet Metab. 2004 Feb;81(2):140-3.
  • 3 RGD objects have been annotated to abetalipoproteinemia  (DOID:1386)
  • 17 papers in RGD have been used to annotate Mttp
  • Curation Notes: DNA:insertion:cds:c.419-420insA (human)


    • An association has been curated linking Mttp and abetalipoproteinemia 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 MTTP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to abetalipoproteinemia  (DOID:1386)
  • 17 papers in RGD have been used to annotate Mttp


    • An association has been curated linking Mttp and abetalipoproteinemia in Mus musculus.        

  • 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 MTTP (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to abetalipoproteinemia  (DOID:1386)
  • 17 papers in RGD have been used to annotate Mttp
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Mttp and abetalipoproteinemia 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 MTTP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to abetalipoproteinemia  (DOID:1386)
  • 17 papers in RGD have been used to annotate Mttp
  • Curation Notes: ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency
  • Original References(s): PMID:10446076 PMID:10679949 PMID:10946006 PMID:12630961 PMID:1439810 PMID:16143868 PMID:16199547 PMID:16721486 PMID:17132287 PMID:17275380 PMID:17576681 PMID:18027103 PMID:18611256 PMID:20592474 PMID:21394827 PMID:22236406 PMID:23043934 PMID:23475612 PMID:24842304 PMID:25108285 PMID:25741868 PMID:27170061 PMID:27271787 PMID:27487388 PMID:27578136 PMID:28492532 PMID:28818680 PMID:2903181 PMID:30522860 PMID:31964843 PMID:32041611 PMID:32483926 PMID:33258201 PMID:33994405 PMID:37206948 PMID:7782284 PMID:8111381 PMID:8361539 PMID:8533758 PMID:8939939 PMID:9536098 PMID:9671739


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