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 3826 - 3850 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:0110960
  • Gaucher's disease perinatal lethal
  • Aliases:
    • Fetal Gaucher Disease
    • Gaucher Disease, Collodion Type
Homo sapiens (human)
DOID:0111008
  • X-linked cone-rod dystrophy 1
  • Aliases:
    • COD1
    • CORDX1
    • X-linked cone dystrophy 1
Homo sapiens (human)
DOID:0080162
  • lupus nephritis
Homo sapiens (human)
DOID:0080506
  • Cornelia de Lange syndrome 2
Homo sapiens (human)
DOID:6195
  • conjunctivitis
Homo sapiens (human)
DOID:1969
  • cerebral palsy
  • Aliases:
    • infantile cerebral palsy
Homo sapiens (human)
DOID:12053
  • cryptococcosis
  • Aliases:
    • Busse-Buschke's disease
    • European cryptococcosis
    • cryptococcal infection
    • torula
    • torulosis
Homo sapiens (human)
DOID:0111232
  • congenital muscular dystrophy-dystroglycanopathy type A9
  • Aliases:
    • MDDGA9
    • Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
Homo sapiens (human)
DOID:0060710
  • autosomal recessive congenital ichthyosis 2
  • Aliases:
    • ARCI2
    • BROCQ congenital ichthyosiform erythroderma nonbullous form
    • NCIE1
    • nonbullous congenital ichthyosiform erythroderma 1
Homo sapiens (human)
DOID:2799
  • bronchiolitis obliterans
  • Aliases:
    • Bronchiolitis exudativa
    • Bronchiolitis fibrosa obliterans
    • Obliterative bronchiolitis
Homo sapiens (human)
DOID:10541
  • microinvasive gastric cancer
  • Aliases:
    • Surface gastric cancer
    • early gastric cancer
Homo sapiens (human)
DOID:0050457
  • Sertoli cell-only syndrome
  • Aliases:
    • DEL CASTILLO SYNDROME
    • Germinal Cell Aplasia
Homo sapiens (human)
DOID:5715
  • functionless pituitary adenoma
  • Aliases:
    • Non-Functioning neoplasm of the Pituitary
    • Non-Secretory adenoma of the Pituitary gland
Homo sapiens (human)
DOID:3847
  • papillary craniopharyngioma
  • Aliases:
    • Papillary Rathke's Pouch tumor
    • craniopharyngioma, papillary
Homo sapiens (human)
DOID:0070230
  • benign recurrent intrahepatic cholestasis
  • Aliases:
    • BRIC
    • Summerskill-Walshe-Tygstrup syndrome
Homo sapiens (human)
DOID:0080307
  • myofibrillar myopathy
Homo sapiens (human)
DOID:5998
  • microglandular adenosis
  • Aliases:
    • Adenosis - breast
    • Adenosis of the breast
Homo sapiens (human)
DOID:0110346
  • osteogenesis imperfecta type 10
  • Aliases:
    • OI10
    • osteogenesis imperfecta type X
Homo sapiens (human)
DOID:0110506
  • autosomal recessive nonsyndromic deafness 49
  • Aliases:
    • DFNB49
    • autosomal recessive deafness 49
Homo sapiens (human)
DOID:0110848
  • xeroderma pigmentosum group F
  • Aliases:
    • XP group F
    • XP6
    • XPF
    • xeroderma pigmentosum VI
Homo sapiens (human)
DOID:9768
  • heart aneurysm
  • Aliases:
    • cardiac aneurysm
Homo sapiens (human)
DOID:8499
  • night blindness
  • Aliases:
    • nyctalopia
Homo sapiens (human)
DOID:0112152
  • CHIME syndrome
  • Aliases:
    • PIGL-CDG
    • Zunich neuroectodermal syndrome
    • Zunich-Kaye syndrome
    • coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
    • congenital disorder of glycosylation due to PIGL deficiency
    • neuroectodermal dysplasia, CHIME type
    • neuroectodermal syndrome, Zunich type
Homo sapiens (human)
DOID:4183
  • pseudopseudohypoparathyroidism
  • Aliases:
    • Normocalcemic pseudohypoparathyroidism
Homo sapiens (human)
DOID:0070399
  • hypomyelinating leukodystrophy 18
  • Aliases:
    • HLD18
Homo sapiens (human)

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Last updated: August 19, 2024