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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 76 - 100 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
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:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Homo sapiens (human)
DOID:0050464
  • Farber lipogranulomatosis
  • Aliases:
    • Farber disease
    • N-laurylsphingosine deacylase deficiency
    • acid ceramidase deficiency
Homo sapiens (human)
DOID:0070114
  • Niemann-Pick disease type C2
  • Aliases:
    • NPC2
Homo sapiens (human)
DOID:0070113
  • Niemann-Pick disease type C1
  • Aliases:
    • NPC1
Homo sapiens (human)
DOID:0070112
  • Niemann-Pick disease type B
Homo sapiens (human)
DOID:0070111
  • Niemann-Pick disease type A
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:0050441
  • mucosulfatidosis
  • Aliases:
    • Sulfatidosis, Juvenile, Austin Type
    • multiple sulfatase deficiency disease
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:0110961
  • atypical Gaucher's disease due to saposin c deficiency
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: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:0110960
  • Gaucher's disease perinatal lethal
  • Aliases:
    • Fetal Gaucher Disease
    • Gaucher Disease, Collodion Type
Homo sapiens (human)
DOID:0110958
  • Gaucher's disease type II
  • Aliases:
    • GD II
    • GD2
    • Gaucher Disease, Acute Neuronopathic Type
    • Infantile Cerebral Gaucher Disease
Homo sapiens (human)
DOID:1926
  • Gaucher's disease
  • Aliases:
    • Gaucher disease
    • acid beta-glucosidase deficiency
    • glocucerebrosidase deficiency
    • glucosylceramide beta-glucosidase deficiency
    • kerasin thesaurismosis
Homo sapiens (human)
DOID:0110957
  • Gaucher's disease type I
  • Aliases:
    • Acid Beta-Glucosidase Deficiency
    • GD I
    • GD1
    • Gaucher Disease, Noncerebral Juvenile
    • Gba Deficiency
    • Glucocerebrosidase Deficiency
Homo sapiens (human)
DOID:14499
  • Fabry disease
  • Aliases:
    • Alpha-galactosidase A deficiency
    • Angiokeratoma Corporis Diffusum
    • Fabry Disease, Cardiac Variant
    • Fabry's disease
    • alpha galactosidase deficiency
    • deficiency of melibiase
Homo sapiens (human)
DOID:4795
  • GM2 gangliosidosis, AB variant
  • Aliases:
    • Tay-Sachs disease AB variant
    • Tay-Sachs disease, variant AB
Homo sapiens (human)
DOID:3323
  • Sandhoff disease
  • Aliases:
    • Sandhoff Jatzkewitz disease
Homo sapiens (human)
DOID:3320
  • Tay-Sachs disease
  • Aliases:
    • GM2 gangliosidosis, type 1
    • hexosaminidase A deficiency
Homo sapiens (human)
DOID:0080489
  • GM1 gangliosidosis type 3
  • Aliases:
    • adult-onset GM1 gangliosidosis
Homo sapiens (human)
DOID:0080501
  • GM1 gangliosidosis type 2
  • Aliases:
    • juvenile GM1 gangliosidosis
Homo sapiens (human)
DOID:3322
  • GM1 gangliosidosis
  • Aliases:
    • Beta-galactosidase deficiency
    • deficiency of beta-galactosidase
    • gangliosidosis GM1
Homo sapiens (human)
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Last updated: December 9, 2024