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GlyCosmos Diseases

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

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 9876 - 9900 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0111840
  • Van Esch-O'Driscoll syndrome
  • Aliases:
    • MRXSVEOD
    • VEODS
    • X-linked intellectual disability, Van Esch type
    • X-linked syndromic mental retardation Van Esch-O'Driscoll type
Saccharomyces cerevisiae S288C
DOID:0111834
  • X-linked reticulate pigmentary disorder
  • Aliases:
    • Partington disease
    • X-linked reticulate pigmentary disorder with systemic manifestations
Saccharomyces cerevisiae S288C
DOID:0111834
  • X-linked reticulate pigmentary disorder
  • Aliases:
    • Partington disease
    • X-linked reticulate pigmentary disorder with systemic manifestations
Homo sapiens (human)
DOID:0111840
  • Van Esch-O'Driscoll syndrome
  • Aliases:
    • MRXSVEOD
    • VEODS
    • X-linked intellectual disability, Van Esch type
    • X-linked syndromic mental retardation Van Esch-O'Driscoll type
Homo sapiens (human)
DOID:218
  • ascending colon cancer
  • Aliases:
    • Ca ascending colon
    • malignant neoplasm of right colon
    • malignant tumor of ascending colon
Homo sapiens (human)
DOID:4852
  • pleomorphic xanthoastrocytoma
  • Aliases:
    • Pleomorphic Xantho-astrocytoma
Homo sapiens (human)
DOID:10021
  • duodenum cancer
  • Aliases:
    • Duodenal cancer
    • cancer of duodenum
    • duodenal neoplasm
Homo sapiens (human)
DOID:0110847
  • xeroderma pigmentosum variant type
  • Aliases:
    • XPV
    • photosensitivity with defective DNA synthesis
    • xeroderma pigmentosum with normal DNA repair rates
Homo sapiens (human)
DOID:0080792
  • Treacher Collins syndrome 4
Homo sapiens (human)
DOID:0060794
  • hypomyelinating leukodystrophy 7
  • Aliases:
    • HLD7
    • TACH syndrome
    • ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy
    • dentoleukoencephalopathy
    • hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
    • leukodystrophy with oligodontia
    • leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
    • tremor-ataxia-central hypomyelination syndrome
Homo sapiens (human)
DOID:0081333
  • Wiedemann-Rautenstrauch syndrome
  • Aliases:
    • Neonatal progeroid syndrome
    • PROGEROID SYNDROME, NEONATAL
Homo sapiens (human)
DOID:0060797
  • hypomyelinating leukodystrophy 8
  • Aliases:
    • HLD8
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:0112378
  • muscular dystrophy-dystroglycanopathy type B3
  • Aliases:
    • MDDGB3
    • congenital muscular dystrophy POMGNT1-related
Homo sapiens (human)
DOID:0110292
  • autosomal recessive limb-girdle muscular dystrophy type 2O
  • Aliases:
    • LGMD2O
    • MDDGC3
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
    • muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
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:0112382
  • muscular dystrophy-dystroglycanopathy type C8
  • Aliases:
    • LGMDR24
    • MDDGC2
    • autosomal recessive limb-girdle muscular dystrophy 24
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
    • muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
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:0112381
  • muscular dystrophy-dystroglycanopathy type C12
  • Aliases:
    • LGMD due to POMK deficiency
    • Limb-girdle muscular dystrophy due to POMK deficiency
    • MDDGC12
    • muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related
Homo sapiens (human)
DOID:0110297
  • autosomal recessive limb-girdle muscular dystrophy type 2K
  • Aliases:
    • LGMD2K
    • MDDGC1
    • limb-girdle muscular dystrophy-intellectual disability syndrome
    • muscular dystrophy limb-girdle type 2K
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
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:0110298
  • autosomal recessive limb-girdle muscular dystrophy type 2N
  • Aliases:
    • LGMD2N
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
    • muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
Homo sapiens (human)
DOID:0112380
  • muscular dystrophy-dystroglycanopathy type B2
  • Aliases:
    • MDDGB2
    • congenital muscular dystrophy POMT2-related
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:0080771
  • beta-thalassemia major
  • Aliases:
    • Cooley's anemia
Homo sapiens (human)
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Last updated: December 9, 2024