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GENE - TERM ANNOTATION REPORT

14 Annotations Found.

An association has been curated linking Abcc6 and pseudoxanthoma elasticum in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Klement JF, etal., Mol Cell Biol. 2005 Sep;25(18):8299-310.
  • 2 additional annotations were made from Klement JF, etal., Mol Cell Biol. 2005 Sep;25(18):8299-310.
  • 15 RGD objects have been annotated to pseudoxanthoma elasticum  (DOID:2738)
  • 21 papers in RGD have been used to annotate Abcc6


    • An association has been curated linking Abcc6 and pseudoxanthoma elasticum in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Schulz V, etal., Hum Mutat. 2006 Aug;27(8):831.
  • The annotation has been inferred from sequence orthology with ABCC6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 additional annotations were made from Schulz V, etal., Hum Mutat. 2006 Aug;27(8):831.
  • 15 RGD objects have been annotated to pseudoxanthoma elasticum  (DOID:2738)
  • 21 papers in RGD have been used to annotate Abcc6
  • Curation Notes: DNA:mutations:multiple


    • An association has been curated linking Abcc6 and pseudoxanthoma elasticum in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Gheduzzi D, etal., Hum Mutat. 2004 Nov;24(5):438-9.
  • The annotation has been inferred from sequence orthology with ABCC6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Gheduzzi D, etal., Hum Mutat. 2004 Nov;24(5):438-9.
  • 15 RGD objects have been annotated to pseudoxanthoma elasticum  (DOID:2738)
  • 21 papers in RGD have been used to annotate Abcc6
  • Curation Notes: DNA:mutations:exon, intron:multiple


    • An association has been curated linking Abcc6 and pseudoxanthoma elasticum in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Schulz V, etal., Hum Biol. 2005 Jun;77(3):367-84.
  • The annotation has been inferred from sequence orthology with ABCC6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Schulz V, etal., Hum Biol. 2005 Jun;77(3):367-84.
  • 15 RGD objects have been annotated to pseudoxanthoma elasticum  (DOID:2738)
  • 21 papers in RGD have been used to annotate Abcc6
  • Curation Notes: DNA:mutations: :multiple


    • An association has been curated linking Abcc6 and pseudoxanthoma elasticum in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Cai L, etal., J Mol Med (Berl). 2001 Sep;79(9):536-46.
  • The annotation has been inferred from sequence orthology with ABCC6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Cai L, etal., J Mol Med (Berl). 2001 Sep;79(9):536-46.
  • 15 RGD objects have been annotated to pseudoxanthoma elasticum  (DOID:2738)
  • 21 papers in RGD have been used to annotate Abcc6
  • Curation Notes: DNA:nonsense mutation:exon:p.Q378X (1132C>T) (human)


    • An association has been curated linking Abcc6 and pseudoxanthoma elasticum in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Pfendner EG, etal., J Med Genet. 2007 Oct;44(10):621-8. Epub 2007 Jul 6.
  • The annotation has been inferred from sequence orthology with ABCC6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Pfendner EG, etal., J Med Genet. 2007 Oct;44(10):621-8. Epub 2007 Jul 6.
  • 15 RGD objects have been annotated to pseudoxanthoma elasticum  (DOID:2738)
  • 21 papers in RGD have been used to annotate Abcc6
  • Curation Notes: DNA:mutations:exon, intron:multiple


    • An association has been curated linking Abcc6 and pseudoxanthoma elasticum in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Hu X, etal., Invest Ophthalmol Vis Sci. 2003 May;44(5):1824-9.
  • The annotation has been inferred from sequence orthology with ABCC6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Hu X, etal., Invest Ophthalmol Vis Sci. 2003 May;44(5):1824-9.
  • 15 RGD objects have been annotated to pseudoxanthoma elasticum  (DOID:2738)
  • 21 papers in RGD have been used to annotate Abcc6
  • Curation Notes: DNA:nonsense mutation:exon:p.R1141X (3421C>T) (human)


    • An association has been curated linking Abcc6 and pseudoxanthoma elasticum in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Schulz V, etal., Hum Mutat. 2006 Aug;27(8):831.
  • The annotation has been inferred from sequence orthology with ABCC6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 additional annotations were made from Schulz V, etal., Hum Mutat. 2006 Aug;27(8):831.
  • 15 RGD objects have been annotated to pseudoxanthoma elasticum  (DOID:2738)
  • 21 papers in RGD have been used to annotate Abcc6
  • Qualifier: no_association
  • Curation Notes: DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)


    • An association has been curated linking Abcc6 and pseudoxanthoma elasticum in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Bergen AA, etal., Nat Genet 2000 Jun;25(2):228-31.
  • The annotation has been inferred from sequence orthology with ABCC6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Bergen AA, etal., Nat Genet 2000 Jun;25(2):228-31.
  • 15 RGD objects have been annotated to pseudoxanthoma elasticum  (DOID:2738)
  • 21 papers in RGD have been used to annotate Abcc6
  • Qualifier: susceptibility


    • An association has been curated linking Abcc6 and pseudoxanthoma elasticum 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 ABCC6 (Homo sapiens) [(EXP) inferred from experiment]
  • 15 RGD objects have been annotated to pseudoxanthoma elasticum  (DOID:2738)
  • 21 papers in RGD have been used to annotate Abcc6
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:11880368 PMID:12069597 PMID:14667841 PMID:16571645 PMID:17045963 PMID:18049453 PMID:23415960 PMID:25758222


    • An association has been curated linking Abcc6 and pseudoxanthoma elasticum 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 ABCC6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 15 RGD objects have been annotated to pseudoxanthoma elasticum  (DOID:2738)
  • 21 papers in RGD have been used to annotate Abcc6


    • An association has been curated linking Abcc6 and pseudoxanthoma elasticum in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 15 RGD objects have been annotated to pseudoxanthoma elasticum  (DOID:2738)
  • 21 papers in RGD have been used to annotate Abcc6
  • Curation Notes: OMIM:177850 | OMIM:264800


    • An association has been curated linking Abcc6 and pseudoxanthoma elasticum in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Li Q, etal., J Invest Dermatol. 2017 May;137(5):1025-1032. doi: 10.1016/j.jid.2016.11.042. Epub 2017 Jan 19.
  • The annotation has been inferred from sequence orthology with Abcc6 (Rattus norvegicus) [(IMP) inferred from mutant phenotype]
  • 15 additional annotations were made from Li Q, etal., J Invest Dermatol. 2017 May;137(5):1025-1032. doi: 10.1016/j.jid.2016.11.042. Epub 2017 Jan 19.
  • 15 RGD objects have been annotated to pseudoxanthoma elasticum  (DOID:2738)
  • 21 papers in RGD have been used to annotate Abcc6


    • An association has been curated linking Abcc6 and pseudoxanthoma elasticum 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 ABCC6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 15 RGD objects have been annotated to pseudoxanthoma elasticum  (DOID:2738)
  • 21 papers in RGD have been used to annotate Abcc6
  • Curation Notes: ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete | ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
  • Original References(s): PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 PMID:11179012 PMID:11427982 PMID:11439001 PMID:11474653 PMID:11493310 PMID:11536079 PMID:11692167 PMID:11702217 PMID:11880368 PMID:12176944 PMID:12384774 PMID:12673275 PMID:12714611 PMID:12928920 PMID:14631379 PMID:15086542 PMID:15098239 PMID:15184964 PMID:15459974 PMID:15645653 PMID:15723264 PMID:15727254 PMID:15752294 PMID:15894595 PMID:16086317 PMID:16086762 PMID:16127278 PMID:16199547 PMID:16392638 PMID:16410789 PMID:16541094 PMID:16543900 PMID:16573612 PMID:16835894 PMID:16854481 PMID:17576681 PMID:17617515 PMID:17724214 PMID:17823974 PMID:18157818 PMID:18253096 PMID:18347285 PMID:18513494 PMID:18800149 PMID:19284998 PMID:19339160 PMID:19726431 PMID:19904211 PMID:20034067 PMID:20075945 PMID:20799350 PMID:20801516 PMID:20849526 PMID:21179111 PMID:21935449 PMID:22209248 PMID:23483032 PMID:23572048 PMID:23702584 PMID:24008425 PMID:24033266 PMID:24088041 PMID:24352041 PMID:24727260 PMID:25062064 PMID:25264593 PMID:25265166 PMID:25615550 PMID:25741868 PMID:26029710 PMID:26084751 PMID:26633545 PMID:26982014 PMID:27133371 PMID:27994049 PMID:28041643 PMID:28102862 PMID:28186352 PMID:28492532 PMID:28655553 PMID:28912966 PMID:29709427 PMID:29722917 PMID:29800625 PMID:30154241 PMID:30229859 PMID:30328268 PMID:30537162 PMID:30805891 PMID:31164056 PMID:31240106 PMID:31456290 PMID:32037395 PMID:32372237 PMID:32818659 PMID:32860008 PMID:32873932 PMID:33812167 PMID:33946315 PMID:34205333 PMID:34440381 PMID:34597610 PMID:34906475 PMID:35261845 PMID:36317459 PMID:9536098


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