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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 3526 - 3550 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0111590
  • Cohen syndrome
  • Aliases:
    • COH1
    • Hypotonia, obesity, and prominent incisors
    • Pepper syndrome
Homo sapiens (human)
DOID:0060939
  • dystonia 32
  • Aliases:
    • DYT32
Homo sapiens (human)
DOID:0060796
  • hypomyelinating leukodystrophy 12
  • Aliases:
    • HLD12
Homo sapiens (human)
DOID:4492
  • avian influenza
  • Aliases:
    • avian flu
    • bird flu
Saccharomyces cerevisiae S288C
DOID:0080437
  • developmental and epileptic encephalopathy 31A
  • Aliases:
    • DEE31
    • DEE31A
    • developmental and epileptic encephalopathy 31
    • early infantile epileptic encephalopathy 31
Saccharomyces cerevisiae S288C
DOID:854
  • collagen disease
  • Aliases:
    • collagen disorder
Saccharomyces cerevisiae S288C
DOID:11252
  • microcytic anemia
Saccharomyces cerevisiae S288C
DOID:0070376
  • developmental and epileptic encephalopathy 31B
  • Aliases:
    • DEE31B
Saccharomyces cerevisiae S288C
DOID:14717
  • centronuclear myopathy
  • Aliases:
    • myotubular myopathy
Saccharomyces cerevisiae S288C
DOID:2975
  • cystic kidney disease
  • Aliases:
    • renal Cyst
Saccharomyces cerevisiae S288C
DOID:0110197
  • Charcot-Marie-Tooth disease dominant intermediate B
  • Aliases:
    • CMTDI1
    • CMTDIB
    • Charcot-Marie-Tooth neuropathy dominant intermediate B
    • DI-CMTB
Saccharomyces cerevisiae S288C
DOID:1827
  • idiopathic generalized epilepsy
  • Aliases:
    • Generalised epilepsy
Saccharomyces cerevisiae S288C
DOID:0060558
  • lethal congenital contracture syndrome
Saccharomyces cerevisiae S288C
DOID:11166
  • Human papillomavirus infectious disease
  • Aliases:
    • HPV
Saccharomyces cerevisiae S288C
DOID:0111223
  • centronuclear myopathy 1
  • Aliases:
    • CNM1
Saccharomyces cerevisiae S288C
DOID:0111354
  • arthrogryposis, renal dysfunction, and cholestasis 2
  • Aliases:
    • ARCS2
Homo sapiens (human)
DOID:0050763
  • ARC syndrome
  • Aliases:
    • ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
    • Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
    • Arthrogryposis-renal dysfunction-cholestasis
Homo sapiens (human)
DOID:0110248
  • cataract 30
  • Aliases:
    • CTRCT30
    • Dusty cataract
    • cataract 30 pulverulent
    • cataract Coppock-like
Homo sapiens (human)
DOID:0070209
  • hereditary lymphedema ID
  • Aliases:
    • LMPH1D
Homo sapiens (human)
DOID:0110168
  • Charcot-Marie-Tooth disease type 2Y
  • Aliases:
    • CMT2 due to VCP mutation
    • CMT2Y
    • Charcot-Marie-Tooth neuropathy type 2Y
    • autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
    • autosomal dominant axonal Charcot-Marie-Tooth type 2Y
Homo sapiens (human)
DOID:0111385
  • inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
  • Aliases:
    • IBMPFD1
    • MSP1
    • multisystem proteinopathy 1
Homo sapiens (human)
DOID:0060205
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • Aliases:
    • ALS14
    • amyotrophic lateral sclerosis 14
    • amyotrophic lateral sclerosis type 14
    • amyotrophic lateral sclerosis, with or without frontotemporal dementia
Homo sapiens (human)
DOID:0110446
  • dilated cardiomyopathy 1W
  • Aliases:
    • CMD1W
Homo sapiens (human)
DOID:0110321
  • hypertrophic cardiomyopathy 15
  • Aliases:
    • CMH15
    • cardiomyopathy familial hypertrophic 15
Homo sapiens (human)
DOID:0111478
  • combined oxidative phosphorylation deficiency 20
  • Aliases:
    • COXPD20
Homo sapiens (human)
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Last updated: December 9, 2024