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 4526 - 4550 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Mus musculus (house mouse)
DOID:0070269
  • congenital disorder of glycosylation type IIq
  • Aliases:
    • CDG IIq
    • CDG2Q
    • CDGIIdq
    • COG2-CDG
    • COG2-related congenital disorder of glycosylation
Homo sapiens (human)
DOID:0080565
  • congenital disorder of glycosylation Im
  • Aliases:
    • DOLK-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1m
    • dolichol kinase deficiency
Homo sapiens (human)
DOID:0050814
  • temtamy preaxial brachydactyly syndrome
  • Aliases:
    • PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Homo sapiens (human)
DOID:7732
  • childhood malignant schwannoma
  • Aliases:
    • pediatric MPNST
Homo sapiens (human)
DOID:8369
  • adult malignant schwannoma
  • Aliases:
    • adult MPNST
Homo sapiens (human)
DOID:13714
  • anodontia
  • Aliases:
    • Complete absence of teeth
    • Developmental absence of tooth
    • Total anodontia of permanent and deciduous teeth
Homo sapiens (human)
DOID:0050591
  • tooth agenesis
  • Aliases:
    • familial tooth agenesis
    • hypodontia
    • oligodontia
    • selective tooth agenesis
Homo sapiens (human)
DOID:8283
  • peritonitis
  • Aliases:
    • Retractile mesenteritis
    • acute generalized peritonitis
    • primary bacterial peritonitis
    • sclerosing mesenteritis
Homo sapiens (human)
DOID:9869
  • hereditary fructose intolerance syndrome
  • Aliases:
    • Fructosaemia
    • Fructose-1,6-bisphosphate aldolase B deficiency
    • Fructosemia
Homo sapiens (human)
DOID:916
  • liver benign neoplasm
  • Aliases:
    • epithelial hepatic and intrahepatic bile duct neoplasm
Homo sapiens (human)
DOID:10581
  • metachromatic leukodystrophy
  • Aliases:
    • MLD
    • Scholz cerebral sclerosis
    • arylsulfatase A deficiency
    • deficiency of cerebroside-sulfatase
    • sulfatide lipoidosis
Homo sapiens (human)
DOID:0050836
  • focal dystonia
Homo sapiens (human)
DOID:9335
  • scotoma
  • Aliases:
    • Blind spot area scotoma
    • Enlarged angioscotoma
    • Enlarged blind spot
    • Enlarged paracaecal scotoma
    • Generalized visual field contraction or constriction
    • Scotoma of blind spot area
    • Sector or arcuate visual field defects
Homo sapiens (human)
DOID:0110841
  • Usher syndrome type 3A
  • Aliases:
    • USH3A
    • Usher syndrome type IIIA
Homo sapiens (human)
DOID:0111054
  • von Willebrand's disease 3
  • Aliases:
    • VWD type 3
    • VWD3
    • von Willebrand disease type 3
    • von Willebrand disease type III
Homo sapiens (human)
DOID:9544
  • refractory plasma cell neoplasm
Homo sapiens (human)
DOID:11168
  • anogenital venereal wart
  • Aliases:
    • Anogenital Human papilloma Virus Infectious Disease
    • Anogenital warts
    • Genital warts
    • genital wart virus infectious disease
    • venereal wart
Homo sapiens (human)
DOID:4394
  • reticulohistiocytic granuloma
  • Aliases:
    • Reticulohistiocytoma
    • solitary reticulohistiocytoma
Homo sapiens (human)
DOID:4231
  • histiocytoma
Homo sapiens (human)
DOID:4419
  • benign deep fibrous histiocytoma
Homo sapiens (human)
DOID:495
  • sclerosing hemangioma
  • Aliases:
    • Sclerosing haemangioma
Homo sapiens (human)
DOID:0110910
  • leukocyte adhesion deficiency 1
  • Aliases:
    • LAD1
    • LFA1 immunodeficiency
    • leukocyte adhesion deficiency type I
    • lymphocyte function-associated antigen 1 immunodeficiency
Homo sapiens (human)
DOID:0080319
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
  • Aliases:
    • XMEN
Homo sapiens (human)
DOID:0060704
  • lymphoproliferative syndrome
  • Aliases:
    • Combined immunodeficiency due to ITK deficiency
Homo sapiens (human)

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Last updated: August 19, 2024