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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 2926 - 2950 of 4115 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism Source
DOID:0080547
  • metabolic dysfunction-associated steatohepatitis
  • Aliases:
    • MASH
    • NASH
    • non-alcoholic steatohepatitis
    • nonalcoholic steatohepatitis
Homo sapiens (human)
DOID:0080208
  • metabolic dysfunction-associated steatotic liver disease
  • Aliases:
    • MAFLD
    • MASLD
    • NAFLD
    • metabolic dysfunction-associated fatty liver disease
    • metabolic dysfunction-related steatotic liver disease
    • metabolic-associated fatty liver disease
    • non-alcoholic fatty liver disease
    • nonalcoholic fatty liver disease
Homo sapiens (human)
DOID:0111512
  • metachondromatosis
  • Aliases:
    • METCDS
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:896
  • metal metabolism disorder
  • Aliases:
    • inborn metal metabolism disorder
Homo sapiens (human)
DOID:0080019
  • metaphyseal dysplasia
  • Aliases:
    • Bakwin-Krida syndrome
    • Pyle's disease
    • Pyle-Cohn syndrome
Homo sapiens (human)
DOID:0111513
  • metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
  • Aliases:
    • metaphyseal dysplasia maxillary hypoplasia brachydactyly
    • metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
Homo sapiens (human)
DOID:10783
  • methemoglobinemia
Homo sapiens (human)
DOID:0111814
  • methylmalonic acidemia and homocysteinemia cblX type
  • Aliases:
    • combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
    • mental retardation, X-linked 3
    • methylmalonic aciduria with homocystinuria, type cblX
Homo sapiens (human)
DOID:0060743
  • methylmalonic acidemia cblB type
  • Aliases:
    • methylmalonic aciduria cblB type
    • methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
Homo sapiens (human)
DOID:0060741
  • methylmalonic acidemia due to transcobalamin receptor defect
  • Aliases:
    • methylmalonic acidemia, TCblR type
    • methylmalonic aciduria due to transcobalamin receptor defect
Homo sapiens (human)
DOID:0050715
  • methylmalonic aciduria and homocystinuria type cblC
  • Aliases:
    • Cobalamin C deficiency
    • MAHCC
Homo sapiens (human)
DOID:0050717
  • methylmalonic aciduria and homocystinuria type cblF
  • Aliases:
    • Cobalamin F deficiency
    • MAHCF
Homo sapiens (human)
DOID:0050733
  • methylmalonic aciduria and homocystinuria type cblG
Homo sapiens (human)
DOID:0060740
  • methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  • Aliases:
    • methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
    • methylmalonic aciduria mut type
    • vitamin B12-unresponsive methylmalonic aciduria
Homo sapiens (human)
DOID:0050452
  • mevalonic aciduria
  • Aliases:
    • Mevalonate Kinase Deficiency
Homo sapiens (human)
DOID:0060609
  • microcephalic osteodysplastic primordial dwarfism type II
  • Aliases:
    • Majewski osteodysplastic primordial dwarfism type II
    • osteodysplastic primordial dwarfism type II
Homo sapiens (human)
DOID:0080105
  • microcephaly and chorioretinopathy 1
Homo sapiens (human)
DOID:0080107
  • microcephaly and chorioretinopathy 3
Homo sapiens (human)
DOID:0060349
  • microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
  • Aliases:
    • chorioretinal dysplasia-microcephaly-mental retardation syndrome
    • lymphedema and retinal folds with ficrocephaly and microphthalmos
    • lymphedema, microcephaly and chorioretinopathy syndrome
    • microcephaly lymphedema chorioretinal dysplasia
    • microcephaly, lymphedema, chorioretinal dysplasia syndrome
Homo sapiens (human)
DOID:10907
  • microcephaly
  • Aliases:
    • Microcephalus
    • microencephaly
Homo sapiens (human)
DOID:11252
  • microcytic anemia
Homo sapiens (human)
DOID:0060861
  • microphthalmia with limb anomalies
  • Aliases:
    • MLA
    • OAS
    • Waardenburg anophthalmia syndrome
    • anophthalmia-syndactyly syndrome
    • ophthalmoacromelic syndrome
Homo sapiens (human)
DOID:10629
  • microphthalmia
  • Aliases:
    • microphthalmos
    • simple microphthalmos
Homo sapiens (human)
DOID:3525
  • middle cerebral artery infarction
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: April 7, 2025