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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking NSD1 and Macrocephaly in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:9683305 (Homo sapiens)
  • 484 RGD objects have been annotated to Macrocephaly  (HP:0000256)
  • 16 papers in RGD have been used to annotate NSD1
  • Curation Notes: ClinVar Annotator: match by term: large head
  • Original References(s): PMID:12464997 PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 PMID:21196496 PMID:24412544 PMID:25741868 PMID:26690673 PMID:27834868 PMID:28492532 PMID:30719864


    • An association has been curated linking NSD1 and Macrocephaly in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 484 RGD objects have been annotated to Macrocephaly  (HP:0000256)
  • 16 papers in RGD have been used to annotate NSD1
  • Original References(s): ORPHA:821


    • An association has been curated linking NSD1 and Macrocephaly in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 484 RGD objects have been annotated to Macrocephaly  (HP:0000256)
  • 16 papers in RGD have been used to annotate NSD1
  • Original References(s): OMIM:117550


    • An association has been curated linking NSD1 and Macrocephaly in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 484 RGD objects have been annotated to Macrocephaly  (HP:0000256)
  • 16 papers in RGD have been used to annotate NSD1
  • Original References(s): ORPHA:3447


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