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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 3051 - 3075 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0070436
  • hyperphosphatasia with impaired intellectual development syndrome 4
  • Aliases:
    • GPIBD62
    • HPMRS6
    • glycosylphosphatidylinositol biosynthesis defect 62
    • hyperphosphatasia with mental retardation syndrome 6
Xenopus laevis (African clawed frog)
DOID:0070436
  • hyperphosphatasia with impaired intellectual development syndrome 4
  • Aliases:
    • GPIBD62
    • HPMRS6
    • glycosylphosphatidylinositol biosynthesis defect 62
    • hyperphosphatasia with mental retardation syndrome 6
Homo sapiens (human)
DOID:0070436
  • hyperphosphatasia with impaired intellectual development syndrome 4
  • Aliases:
    • GPIBD62
    • HPMRS6
    • glycosylphosphatidylinositol biosynthesis defect 62
    • hyperphosphatasia with mental retardation syndrome 6
Mus musculus (house mouse)
DOID:0070436
  • hyperphosphatasia with impaired intellectual development syndrome 4
  • Aliases:
    • GPIBD62
    • HPMRS6
    • glycosylphosphatidylinositol biosynthesis defect 62
    • hyperphosphatasia with mental retardation syndrome 6
Danio rerio (zebrafish)
DOID:0070437
  • hyperphosphatasia with impaired intellectual development syndrome 6
  • Aliases:
    • GPIBD40
    • HPMRS4
    • glycosylphosphatidylinositol biosynthesis defect 40
    • hyperphosphatasia with mental retardation syndrome 4
Homo sapiens (human)
DOID:0070441
  • retinal macular dystrophy 4
  • Aliases:
    • MCDR4
Homo sapiens (human)
DOID:0070442
  • paroxysmal nonkinesigenic dyskinesia 3
  • Aliases:
    • generalized epilepsy and paroxysmal dyskinesia
Mus musculus (house mouse)
DOID:0070442
  • paroxysmal nonkinesigenic dyskinesia 3
  • Aliases:
    • generalized epilepsy and paroxysmal dyskinesia
Homo sapiens (human)
DOID:0070443
  • neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Homo sapiens (human)
DOID:0070443
  • neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Mus musculus (house mouse)
DOID:0070444
  • neurodevelopmental disorder with language delay and seizures
Mus musculus (house mouse)
DOID:0070444
  • neurodevelopmental disorder with language delay and seizures
Homo sapiens (human)
DOID:0070450
  • mitochondrial DNA depletion syndrome 19
Mus musculus (house mouse)
DOID:0070450
  • mitochondrial DNA depletion syndrome 19
Homo sapiens (human)
DOID:0070451
  • mitochondrial DNA depletion syndrome 20
  • Aliases:
    • mitochondrial DNA depletion syndrome 20 (MNGIE type)
Homo sapiens (human)
DOID:0070453
  • xanthinuria type II
  • Aliases:
    • XAN2
Homo sapiens (human)
DOID:0070454
  • hereditary spastic paraplegia 70
  • Aliases:
    • SPG70
    • autosomal recessive spastic paraplegia 70
Homo sapiens (human)
DOID:0070456
  • hereditary spastic paraplegia 87
  • Aliases:
    • SPG87
    • autosomal recessive spastic paraplegia 87
Homo sapiens (human)
DOID:0070456
  • hereditary spastic paraplegia 87
  • Aliases:
    • SPG87
    • autosomal recessive spastic paraplegia 87
Saccharomyces cerevisiae S288C
DOID:0070458
  • hereditary spastic paraplegia 89
  • Aliases:
    • SPG89
    • autosomal recessive spastic paraplegia 89
Caenorhabditis elegans
DOID:0070459
  • hereditary spastic paraplegia 90A
  • Aliases:
    • SPG90A
    • autosomal dominant spastic paraplegia 90A
Homo sapiens (human)
DOID:0070460
  • hereditary spastic paraplegia 90B
  • Aliases:
    • SPG90B
    • autosomal recessive spastic paraplegia 90B
Homo sapiens (human)
DOID:0070461
  • mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
  • Aliases:
    • MC5DN4A
Homo sapiens (human)
DOID:0070461
  • mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
  • Aliases:
    • MC5DN4A
Rattus norvegicus (Norway rat)
DOID:0070461
  • mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
  • Aliases:
    • MC5DN4A
Mus musculus (house mouse)
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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