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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 8726 - 8750 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0110160
  • Charcot-Marie-Tooth disease axonal type 2T
  • Aliases:
    • AR-CMT2T
    • CMT2T
    • Charcot-Marie-Tooth neuropathy type 2T
    • autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
Homo sapiens (human)
DOID:0080933
  • immunoglobulin light chain amyloidosis
  • Aliases:
    • AL amyloidosis
    • Amyloidosis primary systemic
    • Light chain amyloidosis
    • Primary AL amyloidosis
    • Primary systemic AL amyloidosis
    • Primary systemic amyloidosis
    • Systemic AL amyloidsis
Homo sapiens (human)
DOID:1432
  • blindness
  • Aliases:
    • vision impairment
    • vision loss
    • visual impairment
Saccharomyces cerevisiae S288C
DOID:0110374
  • retinitis pigmentosa 68
  • Aliases:
    • RP68
Saccharomyces cerevisiae S288C
DOID:0080030
  • spondyloepimetaphyseal dysplasia, Missouri type
Homo sapiens (human)
DOID:0080696
  • Winchester syndrome
Homo sapiens (human)
DOID:8553
  • pyoderma gangrenosum
Homo sapiens (human)
DOID:255
  • hemangioma
Homo sapiens (human)
DOID:0110060
  • amelogenesis imperfecta hypomaturation type 2A2
  • Aliases:
    • AI2A2
    • amelogenesis imperfecta hypomaturation type IIA2
    • amelogenesis imperfecta pigmented hypomaturation type 2
    • amelogenesis imperfecta type IIA2
Homo sapiens (human)
DOID:4250
  • conjunctivochalasis
Homo sapiens (human)
DOID:5213
  • chronic inflammatory demyelinating polyradiculoneuropathy
Homo sapiens (human)
DOID:8881
  • rosacea
  • Aliases:
    • Acne roscea
    • Acne, erythematosa
Homo sapiens (human)
DOID:0060740
  • methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  • Aliases:
    • methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
    • methylmalonic aciduria mut type
    • vitamin B12-unresponsive methylmalonic aciduria
Homo sapiens (human)
DOID:4586
  • familial meningioma
Homo sapiens (human)
DOID:1485
  • cystic fibrosis
  • Aliases:
    • CF
    • mucoviscidosis
Saccharomyces cerevisiae S288C
DOID:0112113
  • combined oxidative phosphorylation deficiency 45
  • Aliases:
    • COXPD45
Saccharomyces cerevisiae S288C
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Saccharomyces cerevisiae S288C
DOID:0060469
  • Miller-Dieker lissencephaly syndrome
  • Aliases:
    • MDS
    • Miller-Dieker syndrome
Homo sapiens (human)
DOID:0111546
  • Currarino syndrome
  • Aliases:
    • Currarino triad
Homo sapiens (human)
DOID:0070453
  • xanthinuria type II
  • Aliases:
    • XAN2
Homo sapiens (human)
DOID:0070314
  • obstructive nephropathy
  • Aliases:
    • CON
    • congenital obstructive nephropathy
Homo sapiens (human)
DOID:0070254
  • congenital disorder of glycosylation type IIb
  • Aliases:
    • CDG IIb
    • CDG2B
    • CDGIIb
    • glucosidase I deficiency
Homo sapiens (human)
DOID:1595
  • melancholic depression
  • Aliases:
    • endogenous depression
    • major depressive disorder with melancholic features
    • melancholia
Homo sapiens (human)
DOID:0110181
  • Charcot-Marie-Tooth disease axonal type 2Z
  • Aliases:
    • CMT2Z
    • Charcot-Marie-Tooth neuropathy type 2Z
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z
Homo sapiens (human)
DOID:0060399
  • chromosome 16p12.1 deletion syndrome
Homo sapiens (human)
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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