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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 4026 - 4050 of 4115 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0110960
  • Gaucher's disease perinatal lethal
  • Aliases:
    • Fetal Gaucher Disease
    • Gaucher Disease, Collodion Type
Homo sapiens (human)
DOID:0110959
  • Gaucher's disease type III
  • Aliases:
    • GD III
    • Gaucher Disease, Chronic Neuronopathic Type
    • Gaucher Disease, Juvenile And Adult, Cerebral
    • Gaucher Disease, Subacute Neuronopathic Type
Homo sapiens (human)
DOID:0112250
  • Gaucher's disease type IIIC
  • Aliases:
    • GD3C
    • Gaucher disease type 3C
    • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
    • Gaucher-like disease
    • cardiovascular Gaucher disease
Homo sapiens (human)
DOID:0110961
  • atypical Gaucher's disease due to saposin c deficiency
Homo sapiens (human)
DOID:10587
  • Krabbe disease
  • Aliases:
    • Diffuse globoid body sclerosis
    • GLOBOID CELL LEUKOENCEPHALOPATHY
    • Galactosylceramide beta-galactosidase deficiency
    • Krabbe's disease
    • Krabbe's leukodystrophy
    • beta galactocerebrosidase deficiency
    • globoid cell leukodystrophy
Homo sapiens (human)
DOID:0050441
  • mucosulfatidosis
  • Aliases:
    • Sulfatidosis, Juvenile, Austin Type
    • multiple sulfatase deficiency disease
Homo sapiens (human)
DOID:10581
  • metachromatic leukodystrophy
  • Aliases:
    • MLD
    • Scholz cerebral sclerosis
    • arylsulfatase A deficiency
    • deficiency of cerebroside-sulfatase
    • sulfatide lipoidosis
Homo sapiens (human)
DOID:0070111
  • Niemann-Pick disease type A
Homo sapiens (human)
DOID:0070112
  • Niemann-Pick disease type B
Homo sapiens (human)
DOID:0070113
  • Niemann-Pick disease type C1
  • Aliases:
    • NPC1
Homo sapiens (human)
DOID:0070114
  • Niemann-Pick disease type C2
  • Aliases:
    • NPC2
Homo sapiens (human)
DOID:0050464
  • Farber lipogranulomatosis
  • Aliases:
    • Farber disease
    • N-laurylsphingosine deacylase deficiency
    • acid ceramidase deficiency
Homo sapiens (human)
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Homo sapiens (human)
DOID:14497
  • Wolman disease
  • Aliases:
    • Acid esterase deficiency
    • Acid lipase deficiency
    • Wolman xanthomatosis
    • Wolman's disease
    • Wolman's or triglyceride storage type III disease
    • Xanthomatosis, familial
    • acute infantile lysosomal acid lipase deficiency
    • complete LAL deficiency
    • complete LIPA deficiency
    • complete cholesterol ester hydrolase deficiency
    • complete lysosomal acid lipase deficiency
Homo sapiens (human)
DOID:0080217
  • lysosomal acid lipase deficiency
  • Aliases:
    • LAL deficiency
    • LAL-D
Homo sapiens (human)
DOID:2752
  • glycogen storage disease II
  • Aliases:
    • Generalized glycogenosis
    • Glycogen storage disease 2
    • Glycogen storage disease, type II
    • Glycogenosis, type 2
    • Lysosomal alpha-1,4-glucosidase deficiency
    • Pompe's disease
    • acid maltase deficiency
    • deficiency of glucoamylase
    • deficiency of maltase
    • glycogen storage disease type II
Homo sapiens (human)
DOID:0080552
  • congenital disorder of glycosylation Ia
  • Aliases:
    • PMM2-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1a
Homo sapiens (human)
DOID:0080554
  • congenital disorder of glycosylation Ib
  • Aliases:
    • congenital disorder of glycosylation 1b
Homo sapiens (human)
DOID:0080555
  • congenital disorder of glycosylation Ic
  • Aliases:
    • congenital disorder of glycosylation 1c
Homo sapiens (human)
DOID:0080556
  • congenital disorder of glycosylation Id
  • Aliases:
    • congenital disorder of glycosylation 1d
Homo sapiens (human)
DOID:0080557
  • congenital disorder of glycosylation Ie
  • Aliases:
    • congenital disorder of glycosylation 1e
Homo sapiens (human)
DOID:0080558
  • congenital disorder of glycosylation If
  • Aliases:
    • congenital disorder of glycosylation 1f
Homo sapiens (human)
DOID:0080559
  • congenital disorder of glycosylation Ig
  • Aliases:
    • ALG12-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1g
Homo sapiens (human)
DOID:0080560
  • congenital disorder of glycosylation Ih
  • Aliases:
    • congenital disorder of glycosylation 1h
Homo sapiens (human)
DOID:0050571
  • congenital disorder of glycosylation type II
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