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 876 - 900 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0110170
  • Charcot-Marie-Tooth disease axonal type 2Q
  • Aliases:
    • CMT2Q
    • Charcot-Marie-Tooth neuropathy type 2Q
    • autosomal dominant Charcot-Marie-Tooth disease type 2Q
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Drosophila melanogaster (fruit fly)
DOID:10595
  • Charcot-Marie-Tooth disease
  • Aliases:
    • CMT - Charcot-Marie-Tooth disease
Drosophila melanogaster (fruit fly)
DOID:9273
  • citrullinemia
  • Aliases:
    • ASS deficiency
    • deficiency of citrulline-aspartate ligase
Drosophila melanogaster (fruit fly)
DOID:9743
  • diabetic neuropathy
Drosophila melanogaster (fruit fly)
DOID:2377
  • multiple sclerosis
  • Aliases:
    • Generalized multiple sclerosis
    • insular sclerosis
Drosophila melanogaster (fruit fly)
DOID:9669
  • senile cataract
Drosophila melanogaster (fruit fly)
DOID:0070255
  • congenital disorder of glycosylation type IIc
  • Aliases:
    • CDG IIc
    • CDG2C
    • CDGIIc
    • Rambam-Hasharon syndrome
Drosophila melanogaster (fruit fly)
DOID:2383
  • neonatal jaundice
  • Aliases:
    • neonatal hyperbilirubinemia
    • neonatal icterus
Drosophila melanogaster (fruit fly)
DOID:0112219
  • developmental and epileptic encephalopathy 84
  • Aliases:
    • DEE84
    • Jamuar syndrome
    • early infantile epileptic encephalopathy 84
Drosophila melanogaster (fruit fly)
DOID:10325
  • silicosis
  • Aliases:
    • Pneumoconiosis due to silicates
    • Silica pneumoconiosis
    • Silicotic fibrosis of lung
    • silicotuberculosis
Drosophila melanogaster (fruit fly)
DOID:3083
  • chronic obstructive pulmonary disease
  • Aliases:
    • COLD
    • COPD
    • chronic obstructive airway disease
    • chronic obstructive lung disease
Drosophila melanogaster (fruit fly)
DOID:3314
  • angiomyolipoma
Drosophila melanogaster (fruit fly)
DOID:114
  • heart disease
Drosophila melanogaster (fruit fly)
DOID:13580
  • cholestasis
  • Aliases:
    • Obstruction of bile duct
    • bile occlusion
Drosophila melanogaster (fruit fly)
DOID:12802
  • mucopolysaccharidosis I
  • Aliases:
    • Hurler syndrome
    • Hurler-Scheie syndrome
    • Lipochondrodystrophy
    • MPS I - Hurler syndrome
    • Mucopolysaccharidosis, MPS-I
    • Mucopolysaccharidosis, type 1
    • iduronidase deficiency disease
Drosophila melanogaster (fruit fly)
DOID:0050570
  • congenital disorder of glycosylation type I
Drosophila melanogaster (fruit fly)
DOID:0080565
  • congenital disorder of glycosylation Im
  • Aliases:
    • DOLK-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1m
    • dolichol kinase deficiency
Drosophila melanogaster (fruit fly)
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
Drosophila melanogaster (fruit fly)
DOID:0110980
  • Joubert syndrome 1
  • Aliases:
    • CORS1
    • CPD4
    • JBTS1
    • cerebellooculorenal syndrome 1
    • cerebelloparenchymal disorder IV
Drosophila melanogaster (fruit fly)
DOID:0060589
  • Yunis-Varon syndrome
  • Aliases:
    • cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
    • cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Drosophila melanogaster (fruit fly)
DOID:0060309
  • syndromic X-linked intellectual disability
  • Aliases:
    • syndromic X-linked mental retardation
Drosophila melanogaster (fruit fly)
DOID:9470
  • bacterial meningitis
Drosophila melanogaster (fruit fly)
DOID:8893
  • psoriasis
Drosophila melanogaster (fruit fly)
DOID:0112376
  • muscular dystrophy-dystroglycanopathy type B15
  • Aliases:
    • MDDGB15
    • congenital muscular dystrophy DPM3-related
Drosophila melanogaster (fruit fly)
DOID:0110635
  • muscular dystrophy-dystroglycanopathy type B5
  • Aliases:
    • FKRP-related congenital muscular dystrophy
    • MDC1C
    • MDDGB5
    • congenital muscular dystrophy 1C
    • muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
    • muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Drosophila melanogaster (fruit fly)

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Last updated: August 19, 2024