Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 29954
  • Symbol: POMT2
  • Description: protein O-mannosyltransferase 2

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Disease_Term Source Rank Other Values
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3) OMIM high
  • Genome region : 14q24.3
  • OMIM_ID : 607439 OMIM gene ID
  • OMIM_ID : 613156 OMIM phenotype ID
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3) OMIM high
  • Genome region : 14q24.3
  • OMIM_ID : 607439 OMIM gene ID
  • OMIM_ID : 613158 OMIM phenotype ID
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) OMIM high
  • Genome region : 14q24.3
  • OMIM_ID : 607439 OMIM gene ID
  • OMIM_ID : 613150 OMIM phenotype ID