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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 2101 - 2125 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0110632
  • megaconial type congenital muscular dystrophy
  • Aliases:
    • congenital megaconial myopathy
    • congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
    • congenital muscular dystrophy with mitochondrial structural abnormalities
    • megaconial congenital muscular dystrophy
Homo sapiens (human)
DOID:0110633
  • rigid spine muscular dystrophy 1
  • Aliases:
    • Eichsfeld type congenital muscular dystrophy
    • MDRS1
    • RSMD1
    • RSS
    • SEPN1-related myopathy
    • classic MmD
    • classic multiminicore disease
    • classic multiminicore myopathy
    • congenital merosin-positive muscular dystrophy with early spine rigidity
    • desmin-related myopathy with Mallory bodies
    • desmin-related myopathy with Mallory body-like inclusions
    • early-onset desmin-related myopathy
    • rigid spine syndrome
    • severe classic form minicore myopathy
    • severe classic form multicore myopathy
    • severe classic form multiminicore disease
Homo sapiens (human)
DOID:0110635
  • muscular dystrophy-dystroglycanopathy type B5
  • Aliases:
    • FKRP-related congenital muscular dystrophy
    • MDC1C
    • MDDGB5
    • congenital muscular dystrophy 1C
    • muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
    • muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Homo sapiens (human)
DOID:0110636
  • congenital merosin-deficient muscular dystrophy 1A
  • Aliases:
    • CMD1A
    • MDC1A
    • Merosin-negative congenital muscular dystrophy
    • congenital muscular dystrophy due to laminin alpha2 deficiency
Homo sapiens (human)
DOID:0110637
  • muscular dystrophy-dystroglycanopathy type B6
  • Aliases:
    • MDC1D
    • MDDGB6
    • congenital muscular dystrophy LARGE-related
    • congenital muscular dystrophy type 1D
    • muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6
    • muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
Homo sapiens (human)
DOID:0110639
  • congenital muscular dystrophy due to integrin alpha-7 deficiency
  • Aliases:
    • congenital muscular dystrophy with ITGA7 deficiency
    • congenital muscular dystrophy with integrin alpha-7 deficiency
    • congenital myopathy due to integrin alpha-7 deficiency
Homo sapiens (human)
DOID:0110640
  • congenital muscular dystrophy due to LMNA mutation
  • Aliases:
    • L-CMD
    • LMNA-related congenital muscular dystrophy
    • congenital muscular dystrophy LMNA-related
Homo sapiens (human)
DOID:0110644
  • long QT syndrome 1
  • Aliases:
    • LQT1
    • ventricular fibrillation with prolonged QT interval
Homo sapiens (human)
DOID:0110645
  • long QT syndrome 2
  • Aliases:
    • LQT2
Homo sapiens (human)
DOID:0110646
  • long QT syndrome 3
  • Aliases:
    • LQT3
Homo sapiens (human)
DOID:0110647
  • long QT syndrome 5
  • Aliases:
    • LQT5
Homo sapiens (human)
DOID:0110648
  • long QT syndrome 6
  • Aliases:
    • LQT6
Homo sapiens (human)
DOID:0110649
  • long QT syndrome 8
  • Aliases:
    • LQT8
Homo sapiens (human)
DOID:0110651
  • long QT syndrome 10
  • Aliases:
    • LQT10
Homo sapiens (human)
DOID:0110652
  • long QT syndrome 11
  • Aliases:
    • LQT11
Homo sapiens (human)
DOID:0110654
  • long QT syndrome 13
  • Aliases:
    • LQT13
Homo sapiens (human)
DOID:0110657
  • congenital myasthenic syndrome 8
  • Aliases:
    • CMS8
    • congenital myasthenic syndrome 8 with pre- and postsynaptic defects
    • congenital myasthenic syndrome due to agrin deficiency
Homo sapiens (human)
DOID:0110658
  • congenital myasthenic syndrome 15
  • Aliases:
    • CMS15
    • congenital myasthenic syndrome 15 without tubular aggregates
Homo sapiens (human)
DOID:0110659
  • congenital myasthenic syndrome 7
  • Aliases:
    • CMS7
    • congenital myasthenic syndrome 7 presynaptic
Homo sapiens (human)
DOID:0110660
  • congenital myasthenic syndrome 12
  • Aliases:
    • CMS12
    • congenital myasthenia 12 with tubular aggregates
Homo sapiens (human)
DOID:0110661
  • congenital myasthenic syndrome 20
  • Aliases:
    • CMS20
    • congenital myasthenic syndrome 20 presynaptic
Homo sapiens (human)
DOID:0110662
  • congenital myasthenic syndrome 1B
  • Aliases:
    • CMS1B
    • congenital myasthenic syndrome 1B, fast-channel
Homo sapiens (human)
DOID:0110663
  • congenital myasthenic syndrome 1A
  • Aliases:
    • CMS IIa
    • CMS1A
    • congenital myasthenic syndrome 1A, slow-channel
    • congenital myasthenic syndrome type IIa
Homo sapiens (human)
DOID:0110664
  • congenital myasthenic syndrome 3C
  • Aliases:
    • congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
Homo sapiens (human)
DOID:0110665
  • congenital myasthenic syndrome 3B
  • Aliases:
    • CMS3B
    • congenital myasthenic syndrome 3B, fast-channel
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