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 576 - 600 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:2935
  • Chediak-Higashi syndrome
  • Aliases:
    • CHS
    • Chediak - Steinbrinck anomaly
Homo sapiens (human)
DOID:3765
  • pseudohermaphroditism
  • Aliases:
    • Indeterminate sex and pseudohermaphroditism
Homo sapiens (human)
DOID:0060576
  • 3MC syndrome 2
Homo sapiens (human)
DOID:0060861
  • microphthalmia with limb anomalies
  • Aliases:
    • MLA
    • OAS
    • Waardenburg anophthalmia syndrome
    • anophthalmia-syndactyly syndrome
    • ophthalmoacromelic syndrome
Homo sapiens (human)
DOID:1614
  • male breast cancer
  • Aliases:
    • malignant neoplasm of male breast
    • neoplasm of male breast
Homo sapiens (human)
DOID:2977
  • primary hyperoxaluria
Homo sapiens (human)
DOID:1192
  • peripheral nervous system neoplasm
  • Aliases:
    • neoplasm of peripheral nerve
    • nerve sheath neoplasm
    • tumor of PNS
Homo sapiens (human)
DOID:3594
  • choriocarcinoma
  • Aliases:
    • Chorioepithelioma
Homo sapiens (human)
DOID:0110541
  • autosomal dominant nonsyndromic deafness 1
  • Aliases:
    • DFNA1
    • Konigsmark syndrome
    • LFHL1
    • autosomal dominant deafness 1
    • autosomal dominant deafness 1, with or without thrombocytopenia
    • hereditary low frequency hearing loss 1
Homo sapiens (human)
DOID:0080571
  • congenital disorder of glycosylation Iu
  • Aliases:
    • congenital disorder of glycosylation 1u
Homo sapiens (human)
DOID:9402
  • epididymitis
Homo sapiens (human)
DOID:0050674
  • congenital bile acid synthesis defect
  • Aliases:
    • 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
    • CBA
    • cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
Homo sapiens (human)
DOID:9383
  • iridocyclitis
  • Aliases:
    • primary iridocyclitis
Homo sapiens (human)
DOID:0080759
  • Fanconi renotubular syndrome 3
Homo sapiens (human)
DOID:2474
  • vernal conjunctivitis
Homo sapiens (human)
DOID:5075
  • myxopapillary ependymoma
Homo sapiens (human)
DOID:9281
  • phenylketonuria
  • Aliases:
    • Folling's disease
    • PKU
    • maternal phenylketonuria
    • phenylalaninemia
Homo sapiens (human)
DOID:0050833
  • orotic aciduria
Homo sapiens (human)
DOID:9370
  • obsolete exophthalmos
  • Aliases:
    • proptosis
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:3669
  • intermittent claudication
  • Aliases:
    • Charcot's syndrome
Homo sapiens (human)
DOID:0111334
  • congenital leptin deficiency
  • Aliases:
    • LEPD
    • leptin deficiency or dysfunction
    • obesity due to congenital leptin deficiency
Homo sapiens (human)
DOID:0110341
  • osteogenesis imperfecta type 2
  • Aliases:
    • OI2
    • Vrolik type of osteogenesis imperfecta
    • osteogenesis imperfecta type II
    • perinatal lethal osteogenesis imperfecta congenita
Homo sapiens (human)
DOID:1791
  • peritoneal carcinoma
  • Aliases:
    • primary peritoneal carcinoma
Homo sapiens (human)
DOID:4480
  • achondroplasia
  • Aliases:
    • Achondroplastic physique
    • Chondrodystrophia
    • osteosclerosis congenita
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024