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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 5476 - 5500 of 5716 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0050724
  • PSPH deficiency
  • Aliases:
    • PSPHD
    • Phosphoserine phosphatase deficiency
Homo sapiens (human)
DOID:0050723
  • PSAT deficiency
  • Aliases:
    • Phosphoserine aminotransferase deficiency
Homo sapiens (human)
DOID:0050722
  • PHGDH deficiency
  • Aliases:
    • PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
Homo sapiens (human)
DOID:0050719
  • cerebral folate receptor alpha deficiency
  • Aliases:
    • Neurodegeneration due to cerebral folate transport deficiency
Homo sapiens (human)
DOID:0050717
  • methylmalonic aciduria and homocystinuria type cblF
  • Aliases:
    • Cobalamin F deficiency
    • MAHCF
Homo sapiens (human)
DOID:0050715
  • methylmalonic aciduria and homocystinuria type cblC
  • Aliases:
    • Cobalamin C deficiency
    • MAHCC
Homo sapiens (human)
DOID:0050711
  • aceruloplasminemia
Homo sapiens (human)
DOID:0050711
  • aceruloplasminemia
Mus musculus (house mouse)
DOID:0050709
  • early infantile epileptic encephalopathy
  • Aliases:
    • Early Infantile Epileptic Encephalopathy with Burst-Suppression
Saccharomyces cerevisiae S288C
DOID:0050709
  • early infantile epileptic encephalopathy
  • Aliases:
    • Early Infantile Epileptic Encephalopathy with Burst-Suppression
Mus musculus (house mouse)
DOID:0050704
  • childhood electroclinical syndrome
Mus musculus (house mouse)
DOID:0050700
  • cardiomyopathy
  • Aliases:
    • Cardiomyopathies
Rattus norvegicus (Norway rat)
DOID:0050700
  • cardiomyopathy
  • Aliases:
    • Cardiomyopathies
Mus musculus (house mouse)
DOID:0050700
  • cardiomyopathy
  • Aliases:
    • Cardiomyopathies
Homo sapiens (human)
DOID:0050700
  • cardiomyopathy
  • Aliases:
    • Cardiomyopathies
Drosophila melanogaster (fruit fly)
DOID:0050699
  • Dent disease
  • Aliases:
    • Dent's disease
    • X-linked hypercalciuric nephrocalcinosis
Mus musculus (house mouse)
DOID:0050697
  • chorioamnionitis
Homo sapiens (human)
DOID:0050696
  • fetal alcohol spectrum disorder
Homo sapiens (human)
DOID:0050696
  • fetal alcohol spectrum disorder
Rattus norvegicus (Norway rat)
DOID:0050691
  • branchiooculofacial syndrome
Homo sapiens (human)
DOID:0050689
  • brachydactyly-syndactyly syndrome
Homo sapiens (human)
DOID:0050686
  • organ system cancer
Homo sapiens (human)
DOID:0050685
  • small cell carcinoma
  • Aliases:
    • Small cell carcinoma - intermediate cell
    • Small cell carcinoma, intermediate cell
    • intermediate cell small cell carcinoma
Homo sapiens (human)
DOID:0050683
  • Bothnia retinal dystrophy
  • Aliases:
    • Vasterbotten dystrophy
Homo sapiens (human)
DOID:0050681
  • Borjeson-Forssman-Lehmann syndrome
  • Aliases:
    • BFLS
    • BORJ
    • Borjeson syndrome
    • MRXSBFL
    • intellectual deficiency-epilepsy-endocrine disorders syndrome
    • mental retardation, epilepsy, and endocrine disorder
    • syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
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 8, 2025