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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking MITF and COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 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 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  (DOID:9000714)
  • 10 papers in RGD have been used to annotate MITF


    • An association has been curated linking MITF and COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 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:150468894 (Homo sapiens)
  • 1 RGD objects have been annotated to COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  (DOID:9000714)
  • 10 papers in RGD have been used to annotate MITF
  • Curation Notes: ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking MITF and COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 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 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  (DOID:9000714)
  • 10 papers in RGD have been used to annotate MITF
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking MITF and COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 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:12743315 (Homo sapiens)
  • 1 RGD objects have been annotated to COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  (DOID:9000714)
  • 10 papers in RGD have been used to annotate MITF
  • Curation Notes: ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
  • Original References(s): PMID:16199547 PMID:20127975 PMID:27889061 PMID:28492532 PMID:30311386 PMID:34599368 PMID:8659547


    • An association has been curated linking MITF and COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 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:12743304|RGD:12743306 (Homo sapiens) & RGD:12743304|RGD:12743306 (Homo sapiens)
  • 1 RGD objects have been annotated to COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  (DOID:9000714)
  • 10 papers in RGD have been used to annotate MITF
  • Curation Notes: ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
  • Original References(s): PMID:27889061


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