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 3401 - 3425 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:9544
  • refractory plasma cell neoplasm
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: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:0050836
  • focal dystonia
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:916
  • liver benign neoplasm
  • Aliases:
    • epithelial hepatic and intrahepatic bile duct neoplasm
Homo sapiens (human)
DOID:9869
  • hereditary fructose intolerance syndrome
  • Aliases:
    • Fructosaemia
    • Fructose-1,6-bisphosphate aldolase B deficiency
    • Fructosemia
Homo sapiens (human)
DOID:8283
  • peritonitis
  • Aliases:
    • Retractile mesenteritis
    • acute generalized peritonitis
    • primary bacterial peritonitis
    • sclerosing mesenteritis
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:7732
  • childhood malignant schwannoma
  • Aliases:
    • pediatric MPNST
Homo sapiens (human)
DOID:8369
  • adult malignant schwannoma
  • Aliases:
    • adult MPNST
Homo sapiens (human)
DOID:0050814
  • temtamy preaxial brachydactyly syndrome
  • Aliases:
    • PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
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:0070269
  • congenital disorder of glycosylation type IIq
  • Aliases:
    • CDG IIq
    • CDG2Q
    • CDGIIdq
    • COG2-CDG
    • COG2-related congenital disorder of glycosylation
Homo sapiens (human)
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Mus musculus (house mouse)
DOID:5273
  • cutaneous leiomyosarcoma
  • Aliases:
    • leiomyosarcoma of the skin
Homo sapiens (human)
DOID:3267
  • mucinous ovarian cystadenoma
  • Aliases:
    • Ovarian mucinous Cystadenoma
    • mucinous cystadenoma of ovary
Homo sapiens (human)
DOID:6163
  • familial renal papillary carcinoma
  • Aliases:
    • Hereditary Papillary renal carcinoma
Homo sapiens (human)
DOID:5127
  • bizarre leiomyoma
  • Aliases:
    • Atypical leiomyoma
    • Pleomorphic leiomyoma
    • Symplastic leiomyoma
Homo sapiens (human)
DOID:5132
  • leiomyoma cutis
  • Aliases:
    • Cutaneous leiomyoma
    • leiomyoma of the skin
Homo sapiens (human)
DOID:5138
  • leiomyomatosis
Homo sapiens (human)
DOID:0111261
  • fumarase deficiency
  • Aliases:
    • FMRD
    • fumaric aciduria
Homo sapiens (human)
DOID:3687
  • MELAS syndrome
  • Aliases:
    • MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
Homo sapiens (human)

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Last updated: August 19, 2024