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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 26 - 50 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:13544
  • low tension glaucoma
  • Aliases:
    • Normal tension glaucoma
Mus musculus (house mouse)
DOID:0050884
  • triosephosphate isomerase deficiency
  • Aliases:
    • Triose phosphate-isomerase deficiency
Drosophila melanogaster (fruit fly)
DOID:0050570
  • congenital disorder of glycosylation type I
Mus musculus (house mouse)
DOID:0080620
  • familial glucocorticoid deficiency
Homo sapiens (human)
DOID:0081274
  • peroxisome biogenesis disorder 14B
Homo sapiens (human)
DOID:0110933
  • nemaline myopathy 11
  • Aliases:
    • NEM11
    • nemaline myopathy 11, autosomal recessive
Mus musculus (house mouse)
DOID:0060797
  • hypomyelinating leukodystrophy 8
  • Aliases:
    • HLD8
Homo sapiens (human)
DOID:2738
  • pseudoxanthoma elasticum
  • Aliases:
    • Gronblad-Strandberg syndrome
Rattus norvegicus (Norway rat)
DOID:0070056
  • autosomal dominant intellectual developmental disorder 26
  • Aliases:
    • MRD26
    • autosomal dominant mental retardation 26
    • autosomal dominant non-syndromic intellectual disability 26
Homo sapiens (human)
DOID:0060198
  • amyotrophic lateral sclerosis type 6
  • Aliases:
    • ALS6
    • amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
    • autosomal recessive amyotrophic lateral sclerosis 6
Mus musculus (house mouse)
DOID:0080750
  • erythema nodosum
Homo sapiens (human)
DOID:14323
  • Marfan syndrome
  • Aliases:
    • Marfan's syndrome
Mus musculus (house mouse)
DOID:0050942
  • spastic ataxia 3
Homo sapiens (human)
DOID:0070619
  • mitochondrial trifunctional protein deficiency 1
  • Aliases:
    • MTPD1
Homo sapiens (human)
DOID:0111130
  • focal segmental glomerulosclerosis 5
  • Aliases:
    • FSGS5
Homo sapiens (human)
DOID:0050922
  • gastrointestinal carcinoma
Homo sapiens (human)
DOID:0110481
  • autosomal recessive nonsyndromic deafness 23
  • Aliases:
    • DFNB23
    • autosomal recessive deafness 23
Homo sapiens (human)
DOID:0110013
  • advanced sleep phase syndrome 3
  • Aliases:
    • FASPS3
    • familial advanced sleep phase syndrome 3
Homo sapiens (human)
DOID:0111944
  • immunodeficiency 31B
  • Aliases:
    • IMD31B
    • autosomal recessive STAT1 deficiency
    • autosomal recessive immunodeficiency 31B, mycobacterial and viral infections
    • predisposition to severe viral infection due to STAT1 deficiency
    • susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Homo sapiens (human)
DOID:0050427
  • xeroderma pigmentosum
Saccharomyces cerevisiae S288C
DOID:0111643
  • autosomal recessive nonsyndromic deafness 115
  • Aliases:
    • DFNB115
    • autosomal recessive deafness 115
Homo sapiens (human)
DOID:3721
  • plasmacytoma
  • Aliases:
    • Myeloma - solitary
    • Myeloma, solitary
    • Solitary myeloma
    • Solitary plasmacytoma
Homo sapiens (human)
DOID:0110299
  • autosomal recessive limb-girdle muscular dystrophy type 2I
  • Aliases:
    • LGMD2I
    • Limb-girdle muscular dystrophy due to FKRP deficiency
    • MDDGC5
    • muscular dystrophy limb-girdle type 2I
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
    • muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
Mus musculus (house mouse)
DOID:0080484
  • peroxisome biogenesis disorder 10A
  • Aliases:
    • peroxisome biogenesis disorder 10A (Zellweger)
Homo sapiens (human)
DOID:0080217
  • lysosomal acid lipase deficiency
  • Aliases:
    • LAL deficiency
    • LAL-D
Homo sapiens (human)
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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: April 7, 2025