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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking HDAC6 and chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 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:8573207 (Homo sapiens)
  • 1 RGD objects have been annotated to chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  (DOID:0112106)
  • 12 papers in RGD have been used to annotate HDAC6
  • Curation Notes: ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
  • Original References(s): PMID:16001442 PMID:20181727


    • An association has been curated linking HDAC6 and chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  (DOID:0112106)
  • 12 papers in RGD have been used to annotate HDAC6


    • An association has been curated linking HDAC6 and chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 1 RGD objects have been annotated to chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  (DOID:0112106)
  • 12 papers in RGD have been used to annotate HDAC6
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking HDAC6 and chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 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:126734057|RGD:150438395|RGD:38462385|RGD:401724428 (Homo sapiens) & RGD:126734057|RGD:150438395|RGD:38462385|RGD:401724428 (Homo sapiens) & RGD:126734057|RGD:150438395|RGD:38462385|RGD:401724428 (Homo sapiens) & RGD:126734057|RGD:150438395|RGD:38462385|RGD:401724428 (Homo sapiens)
  • 1 RGD objects have been annotated to chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  (DOID:0112106)
  • 12 papers in RGD have been used to annotate HDAC6
  • Curation Notes: ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
  • Original References(s): PMID:25741868


    • An association has been curated linking HDAC6 and chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 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:15175108|RGD:15197997 (Homo sapiens) & RGD:15175108|RGD:15197997 (Homo sapiens)
  • 1 RGD objects have been annotated to chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  (DOID:0112106)
  • 12 papers in RGD have been used to annotate HDAC6
  • Curation Notes: ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
  • Original References(s): PMID:25741868 PMID:28492532


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