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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking FGFR1 and Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate in Pan paniscus.        

  • 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 FGFR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  (DOID:9004955)
  • 0 papers in RGD have been used to annotate FGFR1


    • An association has been curated linking FGFR1 and Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate in Pan paniscus.        

  • 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 FGFR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  (DOID:9004955)
  • 0 papers in RGD have been used to annotate FGFR1
  • Curation Notes: ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate
  • Original References(s): PMID:11173846 PMID:14513299 PMID:15605412 PMID:15793702 PMID:16757108 PMID:16764984 PMID:19504604 PMID:20536592 PMID:23657145 PMID:23812909 PMID:24031091 PMID:24204987 PMID:24888332 PMID:25064402 PMID:25326635 PMID:25741868 PMID:26931467 PMID:28492532 PMID:31474318 PMID:31748124 PMID:33983622


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