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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking EFEMP2 and autosomal recessive cutis laxa type IB in Sus scrofa.        

  • 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 EFEMP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 27 RGD objects have been annotated to autosomal recessive cutis laxa type IB  (DOID:0070133)
  • 0 papers in RGD have been used to annotate EFEMP2


    • An association has been curated linking EFEMP2 and autosomal recessive cutis laxa type IB 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 EFEMP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 27 RGD objects have been annotated to autosomal recessive cutis laxa type IB  (DOID:0070133)
  • 0 papers in RGD have been used to annotate EFEMP2
  • Curation Notes: ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B
  • Original References(s): PMID:15776121 PMID:16199547 PMID:16685658 PMID:17576681 PMID:17937443 PMID:19664000 PMID:2038931 PMID:20389311 PMID:21563328 PMID:22440127 PMID:22943132 PMID:23532871 PMID:24033266 PMID:24276535 PMID:25741868 PMID:25741915 PMID:25907466 PMID:26017485 PMID:27339457 PMID:28454995 PMID:28492532 PMID:28673110 PMID:29620724 PMID:30140196 PMID:31127727 PMID:31589614 PMID:34901216 PMID:8985490 PMID:9536098


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