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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 8476 - 8500 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0080016
  • spina bifida
Homo sapiens (human)
DOID:0081272
  • Sandestig-Stefanova syndrome
Homo sapiens (human)
DOID:11162
  • respiratory failure
  • Aliases:
    • acute and chronic respiratory failure
    • acute respiratory Failure
    • acute-on-chronic respiratory failure
    • chronic respiratory failure
    • respiratory insufficiency/failure
Homo sapiens (human)
DOID:0060256
  • Dowling-Degos disease
  • Aliases:
    • dark dot disease
    • reticular pigment anomaly of flexures
Homo sapiens (human)
DOID:1925
  • Coffin-Siris syndrome
  • Aliases:
    • Dwarfism-Onychodysplasia
    • Fifth Digit Syndrome
    • Short Stature-Onychodysplasia.
Homo sapiens (human)
DOID:0080272
  • nephrotic syndrome type 16
Mus musculus (house mouse)
DOID:0110768
  • hereditary spastic paraplegia 15
  • Aliases:
    • Kjellin syndrome
    • SPG15
    • autosomal recessive spastic paraplegia 15
    • autosomal recessive spastic paraplegia type 15
    • hereditary spastic paraparesis type 15
    • spastic paraplegia and retinal degeneration
    • spastic paraplegia-retinal degeneration syndrome
Homo sapiens (human)
DOID:2590
  • familial nephrotic syndrome
  • Aliases:
    • Congenital nephrotic syndrome
Homo sapiens (human)
DOID:0112228
  • lissencephaly 9 with complex brainstem malformation
  • Aliases:
    • LIS9
    • posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Homo sapiens (human)
DOID:0081145
  • common variable immunodeficiency 2
Homo sapiens (human)
DOID:0080393
  • nephrotic syndrome type 18
Mus musculus (house mouse)
DOID:0060364
  • Galloway-Mowat syndrome 1
  • Aliases:
    • Galloway syndrome
    • SCAR5
    • autosomal recessive spinocerebellar ataxia 5
    • microcephaly, hiatal hernia and nephrotic syndrome
    • nephrosis-microcephaly syndrome
    • nephrosis-neuronal dysmigration syndrome
Mus musculus (house mouse)
DOID:0111576
  • dehydrated hereditary stomatocytosis 1
  • Aliases:
    • PSHK1
    • dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
    • pseudohyperkalemia edinburgh
    • pseudohyperkalemia familial 1, due to red cell leak
Mus musculus (house mouse)
DOID:0081122
  • Catel Manzke syndrome
  • Aliases:
    • Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
    • Micrognathia digital syndrome
Homo sapiens (human)
DOID:0050719
  • cerebral folate receptor alpha deficiency
  • Aliases:
    • Neurodegeneration due to cerebral folate transport deficiency
Homo sapiens (human)
DOID:12679
  • nephrocalcinosis
Homo sapiens (human)
DOID:0110989
  • Joubert syndrome 20
  • Aliases:
    • JBTS20
Mus musculus (house mouse)
DOID:4501
  • orofaciodigital syndrome
  • Aliases:
    • oral-facial-digital syndrome
Mus musculus (house mouse)
DOID:0050778
  • Meckel syndrome
  • Aliases:
    • Meckel-Gruber syndrome
Mus musculus (house mouse)
DOID:0110177
  • Charcot-Marie-Tooth disease axonal type 2N
  • Aliases:
    • CMT2N
    • Charcot-Marie-Tooth neuropathy axonal type 2N
    • autosomal dominant Charcot-Marie-Tooth disease type 2N
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2N
Mus musculus (house mouse)
DOID:0080451
  • developmental and epileptic encephalopathy 29
  • Aliases:
    • DEE29
    • early infantile epileptic encephalopathy 29
Mus musculus (house mouse)
DOID:0111866
  • trichothiodystrophy
  • Aliases:
    • TTD
Mus musculus (house mouse)
DOID:7319
  • axonal neuropathy
Mus musculus (house mouse)
DOID:0081398
  • holoprosencephaly 12
  • Aliases:
    • holoprosencephaly-12 with or without pancreatic agenesis
Mus musculus (house mouse)
DOID:0081397
  • Vissers-Bodmer syndrome
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