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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 3276 - 3300 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:11847
  • coronary thrombosis
  • Aliases:
    • Coronary artery thrombosis
Homo sapiens (human)
DOID:0070495
  • mitochondrial complex IV deficiency nuclear type 8
  • Aliases:
    • MC4DN8
Homo sapiens (human)
DOID:0070011
  • Seckel syndrome 7
  • Aliases:
    • SCKL7
Homo sapiens (human)
DOID:0080382
  • nephrotic syndrome type 3
  • Aliases:
    • early onset nephrotic syndrome type 3
Homo sapiens (human)
DOID:0111258
  • pentosuria
  • Aliases:
    • L-xylulose reductase deficiency
    • L-xylulosuria
    • PNTSU
    • essential pentosuria
    • xylitol dehydrogenase deficiency
Homo sapiens (human)
DOID:0110488
  • autosomal recessive nonsyndromic deafness 3
  • Aliases:
    • DFNB3
    • NRSD3
    • autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3
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:0070098
  • oculocutaneous albinism type IV
  • Aliases:
    • OCA4
Homo sapiens (human)
DOID:0080232
  • autosomal dominant intellectual developmental disorder 51
  • Aliases:
    • autosomal dominant mental retardation 51
Homo sapiens (human)
DOID:0081385
  • ataxia-telangiectasia-like disorder-2
  • Aliases:
    • PCNA-related progressive neurodegenerative photosensitivity syndrome
Homo sapiens (human)
DOID:0081419
  • childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
  • Aliases:
    • DYSTONIA 29, CHILDHOOD-ONSET
    • DYTOABG
    • MECR-related neurologic disorder
    • MEPAN syndrome
    • Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration
Homo sapiens (human)
DOID:0111756
  • Leber hereditary optic neuropathy with demyelinating disease of CNS
Homo sapiens (human)
DOID:0080209
  • sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
  • Aliases:
    • SIFD
Homo sapiens (human)
DOID:0060754
  • familial temporal lobe epilepsy 8
  • Aliases:
    • ETL8
Homo sapiens (human)
DOID:1188
  • mononeuropathy
Homo sapiens (human)
DOID:0111186
  • myopathy, lactic acidosis, and sideroblastic anemia 2
  • Aliases:
    • MLASA2
Homo sapiens (human)
DOID:0080517
  • Meier-Gorlin syndrome 6
Homo sapiens (human)
DOID:0070243
  • primary coenzyme Q10 deficiency 6
  • Aliases:
    • COQ10D6
    • coenzyme Q10 deficiency, primary, 6
    • familial steroid-resistant nephrotic syndrome with sensorineural deafness
Homo sapiens (human)
DOID:3204
  • schwannomatosis
  • Aliases:
    • SWN
    • neurilemmomatosis
    • neurinomatosis
Homo sapiens (human)
DOID:0070516
  • Mitchell syndrome
Homo sapiens (human)
DOID:0050797
  • peroxisomal acyl-CoA oxidase deficiency
  • Aliases:
    • Peroxisomal acyl-coenzyme A oxidase
Homo sapiens (human)
DOID:0060251
  • sclerosteosis
Homo sapiens (human)
DOID:0060756
  • sclerosteosis 1
  • Aliases:
    • SOST1
Homo sapiens (human)
DOID:0080036
  • SOST-related sclerosing bone dysplasia
  • Aliases:
    • van Buchem disease
Homo sapiens (human)
DOID:0080807
  • autosomal dominant craniodiaphyseal dysplasia
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 9, 2024