GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 2776 - 2800 of 4621 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism
DOID:0110660
  • congenital myasthenic syndrome 12
  • Aliases:
    • CMS12
    • congenital myasthenia 12 with tubular aggregates
Homo sapiens (human)
DOID:0110668
  • congenital myasthenic syndrome 10
  • Aliases:
    • CMS10
    • LGM
    • congenital muscular dystrophy merosin-positive
    • familial limb-girdle myasthenia
Homo sapiens (human)
DOID:0111232
  • congenital muscular dystrophy-dystroglycanopathy type A9
  • Aliases:
    • MDDGA9
    • Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
Homo sapiens (human)
DOID:0111231
  • congenital muscular dystrophy-dystroglycanopathy type A8
  • Aliases:
    • MDDGA8
    • Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
Homo sapiens (human)
DOID:0111242
  • congenital muscular dystrophy-dystroglycanopathy type A6
  • Aliases:
    • MDDGA6
    • Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6
Homo sapiens (human)
DOID:0111241
  • congenital muscular dystrophy-dystroglycanopathy type A5
  • Aliases:
    • MDDGA5
    • Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Homo sapiens (human)
DOID:0111236
  • congenital muscular dystrophy-dystroglycanopathy type A3
  • Aliases:
    • MDDGA3
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
Homo sapiens (human)
DOID:0111240
  • congenital muscular dystrophy-dystroglycanopathy type A2
  • Aliases:
    • MDDGA2
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
Homo sapiens (human)
DOID:0111238
  • congenital muscular dystrophy-dystroglycanopathy type A13
  • Aliases:
    • MDDGA13
    • Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
    • Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
Homo sapiens (human)
DOID:0111235
  • congenital muscular dystrophy-dystroglycanopathy type A12
  • Aliases:
    • MDDGA12
    • Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
Homo sapiens (human)
DOID:0111230
  • congenital muscular dystrophy-dystroglycanopathy type A11
  • Aliases:
    • MDDGA11
    • Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
Homo sapiens (human)
DOID:0111239
  • congenital muscular dystrophy-dystroglycanopathy type A10
  • Aliases:
    • MDDGA10
    • Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10
Homo sapiens (human)
DOID:0111237
  • congenital muscular dystrophy-dystroglycanopathy type A1
  • Aliases:
    • MDDGA1
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
Homo sapiens (human)
DOID:0111234
  • congenital muscular dystrophy-dystroglycanopathy A7
  • Aliases:
    • MDDGA7
    • Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7
Homo sapiens (human)
DOID:0111233
  • congenital muscular dystrophy-dystroglycanopathy A14
  • Aliases:
    • MDDGA14
    • Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14
Homo sapiens (human)
DOID:0050557
  • congenital muscular dystrophy
Homo sapiens (human)
DOID:0080197
  • congenital muscular dystrophy with cataracts and intellectual disability
Homo sapiens (human)
DOID:0110639
  • congenital muscular dystrophy due to integrin alpha-7 deficiency
  • Aliases:
    • congenital muscular dystrophy with ITGA7 deficiency
    • congenital muscular dystrophy with integrin alpha-7 deficiency
    • congenital myopathy due to integrin alpha-7 deficiency
Homo sapiens (human)
DOID:0110640
  • congenital muscular dystrophy due to LMNA mutation
  • Aliases:
    • L-CMD
    • LMNA-related congenital muscular dystrophy
    • congenital muscular dystrophy LMNA-related
Homo sapiens (human)
DOID:0110634
  • congenital muscular dystrophy 1B
  • Aliases:
    • CMD1B
    • MDC1B
    • congenital muscular dystrophy type 1B
Homo sapiens (human)
DOID:4773
  • congenital mesoblastic nephroma
Homo sapiens (human)
DOID:0110636
  • congenital merosin-deficient muscular dystrophy 1A
  • Aliases:
    • CMD1A
    • MDC1A
    • Merosin-negative congenital muscular dystrophy
    • congenital muscular dystrophy due to laminin alpha2 deficiency
Homo sapiens (human)
DOID:0060779
  • congenital malabsorptive diarrhea 4
  • Aliases:
    • congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
    • congenital malabsorptive diarrhoea 4
    • congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells
    • enteric anendocrinosis
Homo sapiens (human)
DOID:0111334
  • congenital leptin deficiency
  • Aliases:
    • LEPD
    • leptin deficiency or dysfunction
    • obesity due to congenital leptin deficiency
Homo sapiens (human)
DOID:0111646
  • congenital lactase deficiency
  • Aliases:
    • CLD
    • congenital alactasia
    • congenital alactasia syndrome
    • congenital lactose intolerance
    • congenital lactose malabsorption
    • disaccharide intolerance II
Homo sapiens (human)

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Last updated: August 19, 2024