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 5951 - 5975 of 7942 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:0060735
  • epidermolysis bullosa simplex Dowling-Meara type
  • Aliases:
    • EBS-gen sev
    • EBSDM
    • epidermolysis bullosa herpetiformis Dowling-Meara type
    • epidermolysis bullosa simplex, herpetiformis
    • generalized severe epidermolysis bullosa simplex
Homo sapiens (human)
DOID:0060736
  • epidermolysis bullosa simplex Ogna type
  • Aliases:
    • EBS-O
    • EBS-Og
    • EBSOG
Homo sapiens (human)
DOID:0090017
  • epidermolysis bullosa simplex with muscular dystrophy
  • Aliases:
    • epidermolysis bullosa simplex and limb-girdle muscular dystrophy
    • limb-girdle muscular dystrophy with epidermolysis bullosa simplex
Homo sapiens (human)
DOID:0080554
  • congenital disorder of glycosylation Ib
  • Aliases:
    • congenital disorder of glycosylation 1b
Saccharomyces cerevisiae S288C
DOID:0111181
  • familial hemiplegic migraine 1
  • Aliases:
    • FHM1
    • MHP1
    • familial hemiplegic migraine1 with progressive cerebellar ataxia
Homo sapiens (human)
DOID:0070192
  • autosomal recessive chronic granulomatous disease 1
  • Aliases:
    • CDG1
    • autosomal recessive chronic granulomatous disease cytochrome b-positive type I
    • chronic granulomatous disease due to deficiency of NCF-1
    • deficiency of NCF1
    • deficiency of SOC2
    • deficiency of neutrophil cytosol factor 1
    • deficiency of p47-PHOX
    • deficiency of soluble oxidase component II
Homo sapiens (human)
DOID:9884
  • muscular dystrophy
Saccharomyces cerevisiae S288C
DOID:0112374
  • muscular dystrophy-dystroglycanopathy
  • Aliases:
    • MDDG
Saccharomyces cerevisiae S288C
DOID:0050560
  • Walker-Warburg syndrome
  • Aliases:
    • HARD syndrome
    • cerebroocular dysplasia-muscular dystrophy syndrome
Saccharomyces cerevisiae S288C
DOID:0050453
  • lissencephaly
Saccharomyces cerevisiae S288C
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
Saccharomyces cerevisiae S288C
DOID:0110274
  • autosomal recessive limb-girdle muscular dystrophy
Saccharomyces cerevisiae S288C
DOID:0112380
  • muscular dystrophy-dystroglycanopathy type B2
  • Aliases:
    • MDDGB2
    • congenital muscular dystrophy POMT2-related
Saccharomyces cerevisiae S288C
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
Saccharomyces cerevisiae S288C
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
Saccharomyces cerevisiae S288C
DOID:0050700
  • cardiomyopathy
  • Aliases:
    • Cardiomyopathies
Saccharomyces cerevisiae S288C
DOID:0050588
  • muscular dystrophy-dystroglycanopathy type B1
  • Aliases:
    • CMD due to dystroglycanopathy
    • Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
Saccharomyces cerevisiae S288C
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
Saccharomyces cerevisiae S288C
DOID:9296
  • cleft lip
  • Aliases:
    • Labium leporinum
    • cheiloschisis
    • cleft lip, unilateral, complete
    • complete unilateral cleft lip
    • hare lip
Saccharomyces cerevisiae S288C
DOID:0111260
  • phosphoribosylpyrophosphate synthetase superactivity
  • Aliases:
    • PRPP synthetase superactivity
    • PRPS1 superactivity
Homo sapiens (human)
DOID:11200
  • T cell deficiency
  • Aliases:
    • T cell immunodeficiency
    • T lymphocyte deficiency
    • T lymphocyte immunodeficiency
Homo sapiens (human)
DOID:613
  • obsolete T lymphocyte deficiency
Homo sapiens (human)
DOID:2555
  • granulomatous angiitis
Homo sapiens (human)
DOID:5813
  • purine nucleoside phosphorylase deficiency
  • Aliases:
    • PNP deficiency
    • Purine-Nucleoside Phosphorylase deficiency
    • deficiency of inosine phosphorylase
Homo sapiens (human)
DOID:525
  • central nervous system vasculitis
Homo sapiens (human)

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Last updated: August 19, 2024