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 5976 - 6000 of 7942 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:0060010
  • Omenn syndrome
  • Aliases:
    • combined immunodeficiency with hypereosinophilia
Homo sapiens (human)
DOID:653
  • purine-pyrimidine metabolic disorder
  • Aliases:
    • inborn errors of purine-pyrimidine metabolism
Saccharomyces cerevisiae S288C
DOID:5813
  • purine nucleoside phosphorylase deficiency
  • Aliases:
    • PNP deficiency
    • Purine-Nucleoside Phosphorylase deficiency
    • deficiency of inosine phosphorylase
Saccharomyces cerevisiae S288C
DOID:0060158
  • acquired metabolic disease
Homo sapiens (human)
DOID:0050693
  • Brooke-Spiegler syndrome
  • Aliases:
    • BRSS
    • BSS
    • CYLD cutaneous syndrome
    • SBS
    • Spiegler-Brooke Syndrome
Homo sapiens (human)
DOID:2710
  • sick building syndrome
Homo sapiens (human)
DOID:0050679
  • blue cone monochromacy
Homo sapiens (human)
DOID:0111265
  • Boucher-Neuhauser syndrome
  • Aliases:
    • ataxia-hypogonadism-choroidal dystrophy syndrome
Homo sapiens (human)
DOID:0080762
  • autosomal recessive limb-girdle muscular dystrophy type 2Z
  • Aliases:
    • limb-girdle muscular dystrophy 21
Homo sapiens (human)
DOID:0112378
  • muscular dystrophy-dystroglycanopathy type B3
  • Aliases:
    • MDDGB3
    • congenital muscular dystrophy POMGNT1-related
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: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: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:0080693
  • Noonan syndrome-like disorder with loose anagen hair 2
Homo sapiens (human)
DOID:1725
  • peritoneum cancer
Homo sapiens (human)
DOID:1415
  • gyrate atrophy
  • Aliases:
    • Gyrate atrophy of the choroid and/or retina
    • Ornithinemia with gyrate atrophy
    • gyrate atrophy of the retina
Homo sapiens (human)
DOID:14452
  • hypokalemic periodic paralysis
  • Aliases:
    • Hypokalemic familial periodic paralysis
    • Periodic paralysis I
    • Westphal disease
    • familial hypokalemic periodic paralysis
    • periodic hypokalemic paralysis
Homo sapiens (human)
DOID:14451
  • hyperkalemic periodic paralysis
  • Aliases:
    • familial hyperkalemic periodic paralysis
Homo sapiens (human)
DOID:0060543
  • Hermansky-Pudlak syndrome 5
Homo sapiens (human)
DOID:0090101
  • lethal congenital glycogen storage disease of heart
  • Aliases:
    • fatal congenital hypertrophic cardiomyopathy due to GSD
    • fatal congenital hypertrophic cardiomyopathy due to glycogenosis
    • fatal congenital nonlysosomal cardiac glycogenosis
    • phosphorylase kinase deficiency of heart
Homo sapiens (human)
DOID:0110312
  • hypertrophic cardiomyopathy 6
  • Aliases:
    • CMH6
    • cardiomyopathy, familial hypertrophic 6
Homo sapiens (human)
DOID:0050990
  • episodic ataxia type 2
Homo sapiens (human)

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Last updated: August 19, 2024