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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Lrp2 and Donnai-Barrow syndrome in Chinchilla lanigera.        

  • 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 LRP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Donnai-Barrow syndrome  (DOID:0090144)
  • 2 papers in RGD have been used to annotate Lrp2


    • An association has been curated linking Lrp2 and Donnai-Barrow syndrome in Chinchilla lanigera.        

  • 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 LRP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Donnai-Barrow syndrome  (DOID:0090144)
  • 2 papers in RGD have been used to annotate Lrp2
  • Curation Notes: ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition
  • Original References(s): PMID:12923867 PMID:16199547 PMID:17576681 PMID:17632512 PMID:18414213 PMID:20301732 PMID:20359920 PMID:23033978 PMID:23048173 PMID:24319098 PMID:24406863 PMID:24876117 PMID:25158045 PMID:25326635 PMID:25682901 PMID:25741868 PMID:26118977 PMID:26284228 PMID:26350204 PMID:26529358 PMID:28492532 PMID:28539120 PMID:29992659 PMID:30167849 PMID:32238909 PMID:33103447 PMID:33461977 PMID:34979047 PMID:38177409 PMID:8266995 PMID:9475100 PMID:9536098


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