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 11026 - 11050 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0080001
  • bone disease
Mus musculus (house mouse)
DOID:0110389
  • retinitis pigmentosa 73
  • Aliases:
    • RP73
Mus musculus (house mouse)
DOID:0110480
  • autosomal recessive nonsyndromic deafness 22
  • Aliases:
    • DFNB22
    • autosomal recessive deafness 22
Mus musculus (house mouse)
DOID:0112022
  • non-syndromic X-linked intellectual disability 21
  • Aliases:
    • MRX21
    • MRX34
    • X-linked mental retardation 21
    • X-linked mental retardation 21/34
    • X-linked mental retardation 34
Mus musculus (house mouse)
DOID:0050696
  • fetal alcohol spectrum disorder
Mus musculus (house mouse)
DOID:4501
  • orofaciodigital syndrome
  • Aliases:
    • oral-facial-digital syndrome
Mus musculus (house mouse)
DOID:0060037
  • developmental disorder of mental health
Mus musculus (house mouse)
DOID:0110910
  • leukocyte adhesion deficiency 1
  • Aliases:
    • LAD1
    • LFA1 immunodeficiency
    • leukocyte adhesion deficiency type I
    • lymphocyte function-associated antigen 1 immunodeficiency
Mus musculus (house mouse)
DOID:12531
  • von Willebrand's disease
  • Aliases:
    • vascular hemophilia
    • vascular pseudohemophilia
    • von Willebrand disease
    • von Willebrand disorder
    • von Willebrand's-Jurgens' disease
    • von Willebrand-Jrgens disease
Mus musculus (house mouse)
DOID:0070220
  • familial hyperinsulinemic hypoglycemia 5
  • Aliases:
    • HHF5
    • hyperinsulinemic hypoglycemia due to INSR deficiency
    • hyperinsulinemic hypoglycemia due to insulin receptor deficiency
    • hyperinsulinism due to INSR deficiency
Mus musculus (house mouse)
DOID:0111348
  • multiple epiphyseal dysplasia with myopia and deafness
  • Aliases:
    • EDMMD
    • multiple epiphyseal dysplasia, Beighton type
    • multiple epiphyseal dysplasia-myopia-deafness syndrome
Mus musculus (house mouse)
DOID:0060175
  • succinic semialdehyde dehydrogenase deficiency
  • Aliases:
    • 4-hydroxybutyric aciduria
    • SSADH
    • gamma-hydroxybutyric aciduria
Mus musculus (house mouse)
DOID:0111514
  • metatropic dysplasia
  • Aliases:
    • metatropic dwarfism
Mus musculus (house mouse)
DOID:0112277
  • immunodeficiency 79
  • Aliases:
    • IMD79
Mus musculus (house mouse)
DOID:0060752
  • familial temporal lobe epilepsy 5
  • Aliases:
    • ETL5
Mus musculus (house mouse)
DOID:0050465
  • Muir-Torre syndrome
Mus musculus (house mouse)
DOID:0112312
  • male infertility due to globozoospermia
  • Aliases:
    • globozoospermia syndrome
Mus musculus (house mouse)
DOID:0080571
  • congenital disorder of glycosylation Iu
  • Aliases:
    • congenital disorder of glycosylation 1u
Mus musculus (house mouse)
DOID:0081319
  • multiple synostoses syndrome 3
Mus musculus (house mouse)
DOID:0090075
  • hypogonadotropic hypogonadism 15 with or without anosmia
Mus musculus (house mouse)
DOID:11372
  • megacolon
  • Aliases:
    • Dilatation of colon
Mus musculus (house mouse)
DOID:0111888
  • Diamond-Blackfan anemia 10
  • Aliases:
    • DBA10
    • RPS26-related Diamond-Blackfan anemia
Mus musculus (house mouse)
DOID:0060861
  • microphthalmia with limb anomalies
  • Aliases:
    • MLA
    • OAS
    • Waardenburg anophthalmia syndrome
    • anophthalmia-syndactyly syndrome
    • ophthalmoacromelic syndrome
Mus musculus (house mouse)
DOID:0111110
  • maturity-onset diabetes of the young type 13
  • Aliases:
    • MODY type 13
    • MODY13
Mus musculus (house mouse)
DOID:0111698
  • proprotein convertase 1/3 deficiency
  • Aliases:
    • PCI deficiency
    • obesity and endocrinopathy due to impaired processing of prohormones
    • obesity due to prohormone convertase I deficiency
    • obesity with impaired prohormone processing
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