GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4401 - 4425 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0050650
  • familial atrial fibrillation
  • Aliases:
    • ATFB
Mus musculus (house mouse)
DOID:0060410
  • chromosome 1p36 deletion syndrome
  • Aliases:
    • 1p36 deletion syndrome
    • deletion 1p36
    • monosomy 1p36
Mus musculus (house mouse)
DOID:0080732
  • Ehlers-Danlos syndrome classic-like 2
Homo sapiens (human)
DOID:0080569
  • congenital disorder of glycosylation Ir
  • Aliases:
    • congenital disorder of glycosylation 1r
Homo sapiens (human)
DOID:0080461
  • developmental and epileptic encephalopathy 26
  • Aliases:
    • DEE26
    • early infantile epileptic encephalopathy 26
Mus musculus (house mouse)
DOID:0111447
  • progressive myoclonus epilepsy 7
  • Aliases:
    • EPM7
    • MEAK
    • Myoclonus epilepsy and ataxia due to potassium channel mutation
    • PME type 7
    • Progressive myoclonic epilepsy due to KV3.1 deficiency
    • Progressive myoclonus epilepsy type 7
Mus musculus (house mouse)
DOID:0050963
  • spinocerebellar ataxia type 13
Mus musculus (house mouse)
DOID:2842
  • Jervell-Lange Nielsen syndrome
  • Aliases:
    • Jervell and Lange-Nielson syndrome
Mus musculus (house mouse)
DOID:0110647
  • long QT syndrome 5
  • Aliases:
    • LQT5
Mus musculus (house mouse)
DOID:0050793
  • short QT syndrome
Mus musculus (house mouse)
DOID:0110645
  • long QT syndrome 2
  • Aliases:
    • LQT2
Mus musculus (house mouse)
DOID:0070218
  • familial hyperinsulinemic hypoglycemia 2
  • Aliases:
    • Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
    • HHF2
    • hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
Mus musculus (house mouse)
DOID:0111110
  • maturity-onset diabetes of the young type 13
  • Aliases:
    • MODY type 13
    • MODY13
Mus musculus (house mouse)
DOID:0070442
  • paroxysmal nonkinesigenic dyskinesia 3
  • Aliases:
    • generalized epilepsy and paroxysmal dyskinesia
Mus musculus (house mouse)
DOID:5572
  • Beckwith-Wiedemann syndrome
Mus musculus (house mouse)
DOID:0110644
  • long QT syndrome 1
  • Aliases:
    • LQT1
    • ventricular fibrillation with prolonged QT interval
Mus musculus (house mouse)
DOID:0080462
  • developmental and epileptic encephalopathy 7
  • Aliases:
    • KCNQ2-related epileptic encephalopathy
    • KCNQ2-related neonatal epileptic encephalopathy
    • early infantile epileptic encephalopathy 7
Mus musculus (house mouse)
DOID:0050457
  • Sertoli cell-only syndrome
  • Aliases:
    • DEL CASTILLO SYNDROME
    • Germinal Cell Aplasia
Homo sapiens (human)
DOID:3869
  • childhood medulloblastoma
  • Aliases:
    • pediatric Medulloblastoma
Homo sapiens (human)
DOID:4905
  • pancreatic carcinoma
  • Aliases:
    • Exocrine pancreas carcinoma
    • carcinoma of pancreas
Mus musculus (house mouse)
DOID:0002116
  • pterygium
  • Aliases:
    • surfer's eye
Mus musculus (house mouse)
DOID:3192
  • neurilemmoma
  • Aliases:
    • Psammomatous schwannoma
    • schwannoma
Mus musculus (house mouse)
DOID:4511
  • breast angiosarcoma
  • Aliases:
    • hemangiosarcoma of the breast
Mus musculus (house mouse)
DOID:0050904
  • salivary gland carcinoma
Mus musculus (house mouse)
DOID:7736
  • retinal telangiectasia
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: December 9, 2024