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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 11226 - 11250 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0111182
  • familial hemiplegic migraine 2
  • Aliases:
    • FHM2
    • Familial hemiplegic migraine-2
    • MHP2
Mus musculus (house mouse)
DOID:0060445
  • congenital stromal corneal dystrophy
  • Aliases:
    • CSCD
    • congenital hereditary stromal dystrophy
Mus musculus (house mouse)
DOID:13207
  • proliferative diabetic retinopathy
  • Aliases:
    • PDR
Mus musculus (house mouse)
DOID:0080697
  • Opitz GBBB syndrome
  • Aliases:
    • Opitz G/BBB Syndrome
    • Opitz GBBB syndrome type I
Mus musculus (house mouse)
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Mus musculus (house mouse)
DOID:0060181
  • ischemic colitis
Mus musculus (house mouse)
DOID:0060931
  • developmental dysplasia of the hip 1
  • Aliases:
    • DDH1
Mus musculus (house mouse)
DOID:0070432
  • hyperphosphatasia with impaired intellectual development syndrome 5
  • Aliases:
    • GPIBD11
    • HPMRS5
    • glycosylphosphatidylinositol biosynthesis defect 11
    • hyperphosphatasia with mental retardation syndrome 5
Mus musculus (house mouse)
DOID:0060877
  • bullous congenital ichthyosiform erythroderma
  • Aliases:
    • bullous type ichthyosis
    • ichthyosis bullosa of Siemens
    • superficial epidermolytic ichthyosis
Mus musculus (house mouse)
DOID:0110347
  • osteogenesis imperfecta type 15
  • Aliases:
    • OI15
    • osteogenesis imperfecta type XV
Mus musculus (house mouse)
DOID:0111365
  • benign familial hematuria
  • Aliases:
    • BFH
    • TMN
    • thin basement membrane nephropathy
    • thin membrane nephropathy
Mus musculus (house mouse)
DOID:0110263
  • cataract 19 multiple types
  • Aliases:
    • CTRCT19
Mus musculus (house mouse)
DOID:0081339
  • congenital myopathy 2B
Mus musculus (house mouse)
DOID:0110144
  • Bartter disease type 3
  • Aliases:
    • BARTS3
    • Bartter syndrome type 3
    • classic Bartter syndrome
Mus musculus (house mouse)
DOID:0080345
  • blepharocheilodontic syndrome 1
Mus musculus (house mouse)
DOID:0110078
  • Leber congenital amaurosis 1
  • Aliases:
    • LCA1
    • amaurosis congenita of Leber I
Mus musculus (house mouse)
DOID:0110285
  • autosomal recessive limb-girdle muscular dystrophy type 2Q
  • Aliases:
    • LGMD2Q
    • autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
    • muscular dystrophy, limb-girdle, type 2Q
Mus musculus (house mouse)
DOID:1825
  • childhood absence epilepsy
  • Aliases:
    • petit mal seizure
    • pyknolepsy
Mus musculus (house mouse)
DOID:8564
  • lip cancer
  • Aliases:
    • malignant neoplasm of commissure of lip
    • malignant neoplasm of external Lip, not specified as upper or lower
    • malignant neoplasm of labial commissure of lip
    • malignant neoplasm of lip
    • malignant neoplasm of lip, external
    • malignant neoplasm of lip, inner aspect
    • malignant neoplasm of lip, vermilion border
    • malignant neoplasm of lower lip, buccal aspect
    • malignant neoplasm of lower lip, inner aspect
    • malignant neoplasm of lower lip, mucosa
    • malignant neoplasm of lower lip, oral aspect
    • malignant neoplasm of oral aspect of lip, not specified whether upper or lower
    • malignant neoplasm of other sites of lip
    • malignant neoplasm of vermilion border of lip
    • malignant tumor of commissure of lip
    • malignant tumor of labial mucosa
    • malignant tumor of lip
    • malignant tumor of lower labial mucosa
    • malignant tumor of the Lip
    • malignant tumour of labial commissure
    • malignant tumour of lip
Mus musculus (house mouse)
DOID:5688
  • Werner syndrome
  • Aliases:
    • WS
    • Werner's syndrome
    • adult premature ageing syndrome
    • adult progeria
Mus musculus (house mouse)
DOID:0111745
  • cerebellar ataxia type 43
  • Aliases:
    • SCA43
Mus musculus (house mouse)
DOID:4500
  • hypokalemia
  • Aliases:
    • hypopotassemia
    • potassium deficiency disorder
Mus musculus (house mouse)
DOID:10808
  • gastric ulcer
  • Aliases:
    • acute gastric ulcer with haemorrhage and perforation
    • acute gastric ulcer with hemorrhage AND with perforation but without obstruction
    • acute gastric ulcer with hemorrhage and obstruction
    • acute gastric ulcer with hemorrhage and perforation
    • acute gastric ulcer with hemorrhage and perforation, with obstruction
    • acute gastric ulcer with hemorrhage and perforation, without mention of obstruction
    • acute gastric ulcer with hemorrhage, with obstruction
    • acute gastric ulcer with hemorrhage, with perforation AND with obstruction
    • acute gastric ulcer with perforation
    • acute gastric ulcer with perforation AND obstruction
    • acute gastric ulcer with perforation, with obstruction
    • acute gastric ulcer without hemorrhage and without perforation
    • acute gastric ulcer without hemorrhage, without perforation AND without obstruction
    • acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction
    • bleeding acute gastric ulcer
    • chronic gastric ulcer without hemorrhage AND without perforation
    • chronic gastric ulcer without hemorrhage AND without perforation but with obstruction
    • chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction
Mus musculus (house mouse)
DOID:0111118
  • nephronophthisis 11
  • Aliases:
    • NPHP11
Mus musculus (house mouse)
DOID:0112121
  • nephrogenic syndrome of inappropriate antidiuresis
  • Aliases:
    • NSIAD
Mus musculus (house mouse)
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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024