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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking B4GALT7 and Ehlers-Danlos syndrome spondylodysplastic type 2 in Sus scrofa.        

  • 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 B4GALT7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 104 RGD objects have been annotated to Ehlers-Danlos syndrome spondylodysplastic type 2  (DOID:0050802)
  • 0 papers in RGD have been used to annotate B4GALT7
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • Original References(s): PMID:10473568 PMID:10506123 PMID:1221956 PMID:15211654 PMID:16199547 PMID:1640425 PMID:17576681 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28306225 PMID:28492532 PMID:28882145 PMID:30914273 PMID:31278392 PMID:31614862 PMID:32429945 PMID:34193099 PMID:3631078 PMID:9536098


    • An association has been curated linking B4GALT7 and Ehlers-Danlos syndrome spondylodysplastic type 2 in Sus scrofa.        

  • 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 B4GALT7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 104 RGD objects have been annotated to Ehlers-Danlos syndrome spondylodysplastic type 2  (DOID:0050802)
  • 0 papers in RGD have been used to annotate B4GALT7
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type
  • Original References(s): PMID:10473568 PMID:10506123 PMID:1221956 PMID:15211654 PMID:1640425 PMID:17576681 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:28882145 PMID:30914273 PMID:31278392 PMID:31614862 PMID:32429945 PMID:3631078 PMID:9536098


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