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 3026 - 3050 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:3196
  • cellular schwannoma
  • Aliases:
    • cellular Neurinoma
Homo sapiens (human)
DOID:3205
  • melanotic neurilemmoma
  • Aliases:
    • Melanotic Schwannoma
    • Pigmented Neurilemmoma
    • Pigmented schwannoma
Homo sapiens (human)
DOID:3627
  • aortic aneurysm
  • Aliases:
    • ruptured aortic aneurysm
Homo sapiens (human)
DOID:0080202
  • adenoid cystic carcinoma
Homo sapiens (human)
DOID:4866
  • salivary gland adenoid cystic carcinoma
  • Aliases:
    • Cylindroma
Homo sapiens (human)
DOID:0050469
  • Costello syndrome
  • Aliases:
    • FCS SYNDROME
    • Faciocutaneoskeletal Syndrome
Homo sapiens (human)
DOID:3507
  • dermatofibrosarcoma protuberans
Homo sapiens (human)
DOID:0060363
  • glycerol kinase deficiency
Mus musculus (house mouse)
DOID:9675
  • pulmonary emphysema
Mus musculus (house mouse)
DOID:0111681
  • glutamate-cysteine ligase deficiency
  • Aliases:
    • gamma-glutamylcysteine synthetase deficiency
    • hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Mus musculus (house mouse)
DOID:1572
  • normal pressure hydrocephalus
  • Aliases:
    • Low pressure hydrocephalus
Homo sapiens (human)
DOID:14695
  • galactokinase deficiency
  • Aliases:
    • Galactosemia II
Mus musculus (house mouse)
DOID:3314
  • angiomyolipoma
Homo sapiens (human)
DOID:4239
  • alveolar soft part sarcoma
Homo sapiens (human)
DOID:3321
  • GM2 gangliosidosis
  • Aliases:
    • gangliosidosis GM2
Mus musculus (house mouse)
DOID:4795
  • GM2 gangliosidosis, AB variant
  • Aliases:
    • Tay-Sachs disease AB variant
    • Tay-Sachs disease, variant AB
Mus musculus (house mouse)
DOID:0070450
  • mitochondrial DNA depletion syndrome 19
Homo sapiens (human)
DOID:0060536
  • mitochondrial complex I deficiency
  • Aliases:
    • isolated NADH-CoQ reductase deficiency
    • isolated NADH-coenzyme Q reductase deficiency
    • isolated NADH-ubiquinone reductase deficiency
    • isolated mitochondrial respiratory chain complex I deficiency
Homo sapiens (human)
DOID:0060475
  • myoclonic-atonic epilepsy
  • Aliases:
    • EEOC
    • childhood onset epileptic encephalopathy
Homo sapiens (human)
DOID:0070268
  • congenital disorder of glycosylation type IIp
  • Aliases:
    • CDG IIp
    • CDG syndrome type IIp
    • CDG2P
    • CDGIIdp
    • Carbohydrate deficient glycoprotein syndrome type IIp
    • Congenital disorder of glycosylation type 2p
    • TMEM199-CDG
Homo sapiens (human)
DOID:0111037
  • glycine N-methyltransferase deficiency
  • Aliases:
    • GNMT deficiency
    • hypermethioninemia due to GNMT deficiency
    • hypermethioninemia due to glycine N-methyltransferase deficiency
Mus musculus (house mouse)
DOID:332
  • amyotrophic lateral sclerosis
  • Aliases:
    • ALS
    • Lou Gehrig's disease
    • motor neuron disease, bulbar
Mus musculus (house mouse)
DOID:3498
  • pancreatic ductal adenocarcinoma
  • Aliases:
    • ductal adenocarcinoma of the pancreas
Mus musculus (house mouse)
DOID:9952
  • acute lymphoblastic leukemia
  • Aliases:
    • ALL
    • acute lymphoblastic leukaemia
    • acute lymphocytic leukaemia
    • precursor lymphoblastic lymphoma/leukemia
Mus musculus (house mouse)
DOID:1059
  • intellectual disability
Mus musculus (house mouse)

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024