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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 8851 - 8875 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0110321
  • hypertrophic cardiomyopathy 15
  • Aliases:
    • CMH15
    • cardiomyopathy familial hypertrophic 15
Mus musculus (house mouse)
DOID:0110446
  • dilated cardiomyopathy 1W
  • Aliases:
    • CMD1W
Mus musculus (house mouse)
DOID:0111478
  • combined oxidative phosphorylation deficiency 20
  • Aliases:
    • COXPD20
Mus musculus (house mouse)
DOID:2742
  • auditory system disease
  • Aliases:
    • ear and mastoid disease
Homo sapiens (human)
DOID:5723
  • optic atrophy
  • Aliases:
    • atrophy of optic disc
Homo sapiens (human)
DOID:0112008
  • pituitary adenoma 5
  • Aliases:
    • PITA5
    • pituitary adenoma 5, multiple types
Mus musculus (house mouse)
DOID:0070098
  • oculocutaneous albinism type IV
  • Aliases:
    • OCA4
Mus musculus (house mouse)
DOID:0060473
  • Kabuki syndrome
  • Aliases:
    • KMS
    • Kabuki make up syndrome
    • Niikawa-Kuroki syndrome
Mus musculus (house mouse)
DOID:0060081
  • triple-receptor negative breast cancer
Mus musculus (house mouse)
DOID:0112026
  • non-syndromic X-linked intellectual disability 99
  • Aliases:
    • MRX99
    • X-linked mental retardation 99
Mus musculus (house mouse)
DOID:0112025
  • female-restricted syndromic X-linked intellectual disability 99
  • Aliases:
    • MRXS99F
    • X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
    • female-restricted syndromic X-linked mental retardation 99
Mus musculus (house mouse)
DOID:0110838
  • Usher syndrome type 2A
  • Aliases:
    • USH2A
    • Usher syndrome type IIA
Mus musculus (house mouse)
DOID:0110827
  • Usher syndrome type 2
  • Aliases:
    • USH2
Mus musculus (house mouse)
DOID:0110360
  • retinitis pigmentosa 39
  • Aliases:
    • RP39
Mus musculus (house mouse)
DOID:0050439
  • Usher syndrome
Mus musculus (house mouse)
DOID:0070332
  • multiple mitochondrial dysfunctions syndrome 6
Mus musculus (house mouse)
DOID:0112358
  • short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
  • Aliases:
    • SSFSC
Homo sapiens (human)
DOID:0060759
  • immunodeficiency with hyper IgM type 5
  • Aliases:
    • HIGM5
    • hyper-IgM syndrome 5
    • hyper-IgM syndrome due to UNG deficiency
    • hyper-IgM syndrome due to uracil N-glycosylase
Mus musculus (house mouse)
DOID:0050833
  • orotic aciduria
Mus musculus (house mouse)
DOID:3805
  • porokeratosis
  • Aliases:
    • disseminated superficial actinic porokeratosis
Homo sapiens (human)
DOID:0112219
  • developmental and epileptic encephalopathy 84
  • Aliases:
    • DEE84
    • Jamuar syndrome
    • early infantile epileptic encephalopathy 84
Mus musculus (house mouse)
DOID:0050958
  • spinocerebellar ataxia type 7
Homo sapiens (human)
DOID:0080828
  • VEXAS syndrome
  • Aliases:
    • vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome
Mus musculus (house mouse)
DOID:0111827
  • X-linked spinal muscular atrophy 2
  • Aliases:
    • SMAX2
    • X-linked distal arthrogryposis multiplex congenita
    • X-linked spinal muscular atrophy type 2
    • infantile-onset X-linked spinal muscular atrophy
    • spinal muscular atrophy with arthrogryposis
Mus musculus (house mouse)
DOID:0060933
  • developmental delay, dysmorphic facies, and brain anomalies
  • Aliases:
    • DEVDFB
Mus musculus (house mouse)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

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