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 1026 - 1050 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0050648
  • atelosteogenesis
Homo sapiens (human)
DOID:4367
  • apparent mineralocorticoid excess syndrome
  • Aliases:
    • 11-beta-hydroxysteroid dehydrogenase deficiency type 2
    • Ulick syndrome
    • cortisol 11-beta-ketoreductase deficiency
    • syndrome of apparent mineralocorticoid excess
Homo sapiens (human)
DOID:13195
  • nontoxic goiter
  • Aliases:
    • Goiter, non-toxic
    • Goitre, non-toxic
    • Nodule-thyroid, non tox
    • Non-toxic goitre
    • Non-toxic simple goitre
Homo sapiens (human)
DOID:0080124
  • mitochondrial DNA depletion syndrome 5
  • Aliases:
    • succinate-CoA ligase deficiency
Homo sapiens (human)
DOID:2079
  • eccrine mixed tumor of skin
  • Aliases:
    • Eccrine mixed tumor
    • Eccrine mixed tumour
    • eccrine mixed tumour of skin
    • mixed Eccrine neoplasm of the skin
Homo sapiens (human)
DOID:7095
  • childhood epithelioid sarcoma
  • Aliases:
    • pediatric epithelioid sarcoma
Homo sapiens (human)
DOID:0110539
  • autosomal recessive nonsyndromic deafness 97
  • Aliases:
    • DFNB97
    • autosomal recessive deafness 97
Homo sapiens (human)
DOID:0070136
  • autosomal dominant cutis laxa 2
  • Aliases:
    • ADCL2
Homo sapiens (human)
DOID:4724
  • brain edema
  • Aliases:
    • intracranial swelling
    • wet brain
Homo sapiens (human)
DOID:0110127
  • Bardet-Biedl syndrome 5
  • Aliases:
    • BBS5
Homo sapiens (human)
DOID:4012
  • papillary transitional carcinoma
  • Aliases:
    • Papillary transitional cell carcinoma
Homo sapiens (human)
DOID:0080950
  • alopecia-mental retardation syndrome 4
Homo sapiens (human)
DOID:0080352
  • X-linked chondrodysplasia punctata 2
  • Aliases:
    • Conradi-Hunermann Syndrome
    • Happle syndrome
Homo sapiens (human)
DOID:914
  • peliosis hepatis
  • Aliases:
    • hepatic peliosis
Homo sapiens (human)
DOID:0060728
  • NGLY1-deficiency
  • Aliases:
    • NGLY1-CDDG
    • congenital disorder of deglycosylation
    • congenital disorder of glycosylation type Iv
    • deficiency of N-glycanase 1
Homo sapiens (human)
DOID:12716
  • newborn respiratory distress syndrome
  • Aliases:
    • HMD - Hyaline membrane disease
    • Neonatal respiratory Distress syndrome
    • hyaline membrane disease
    • pulmonary hyaline membrane disease
    • pulmonary hypoperfusion syndrome of newborn
    • respiratory distress syndrome of newborn
Homo sapiens (human)
DOID:0110119
  • autoimmune lymphoproliferative syndrome type 3
  • Aliases:
    • ALPS3
    • autoimmune lymphoproliferative syndrome type III
Homo sapiens (human)
DOID:0060858
  • hypotonia-cystinuria syndrome
  • Aliases:
    • cystinuria with mitochondrial disease
Homo sapiens (human)
DOID:10914
  • amnestic disorder
  • Aliases:
    • Amnestic syndrome
    • Korsakoff's psychosis or syndrome
    • amnesia
Homo sapiens (human)
DOID:4554
  • type C thymoma
  • Aliases:
    • Thymoma, type C
Homo sapiens (human)
DOID:0110239
  • cataract 12 multiple types
  • Aliases:
    • CTRCT12
Homo sapiens (human)
DOID:813
  • septic arthritis
  • Aliases:
    • infectious arthritis
Homo sapiens (human)
DOID:0111129
  • focal segmental glomerulosclerosis 2
  • Aliases:
    • FSGS2
Homo sapiens (human)
DOID:3620
  • central nervous system cancer
  • Aliases:
    • CNS neoplasm
    • central nervous system tumor
    • central nervous system tumors
    • malignant neoplasm of central nervous system
    • malignant tumor of CNS
    • neoplasm of central nervous system
Homo sapiens (human)
DOID:13812
  • adhesions of uterus
  • Aliases:
    • Band of uterus
    • Intrauterine adhesions
    • Intrauterine synechiae
Homo sapiens (human)

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Last updated: August 19, 2024