Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 10585
  • Symbol: POMT1
  • Description: protein O-mannosyltransferase 1

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Disease_Term Source Rank Other Values
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3) OMIM high
  • Genome region : 9q34.13
  • OMIM_ID : 236670 OMIM phenotype ID
  • OMIM_ID : 607423 OMIM gene ID
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3) OMIM high
  • Genome region : 9q34.13
  • OMIM_ID : 607423 OMIM gene ID
  • OMIM_ID : 613155 OMIM phenotype ID
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3) OMIM high
  • Genome region : 9q34.13
  • OMIM_ID : 607423 OMIM gene ID
  • OMIM_ID : 609308 OMIM phenotype ID