GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 3051 - 3075 of 4621 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism
DOID:0110676
  • congenital myasthenic syndrome 13
  • Aliases:
    • CMS13
    • CMSTA2
    • congenital myasthenic syndrome 13 with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 2
Homo sapiens (human)
DOID:0110672
  • congenital myasthenic syndrome 21
  • Aliases:
    • CMS21
    • congenital myasthenic syndrome 21, presynaptic
Homo sapiens (human)
DOID:0110671
  • congenital myasthenic syndrome 6
  • Aliases:
    • CMS Ia2
    • CMS1A2
    • CMS6
    • CMSEA
    • FIM
    • FIMG2
    • congenital myasthenic syndrome 6, presynaptic
    • congenital myasthenic syndrome type Ia2
    • congenital presynaptic myasthenic syndrome associated with episodic apnea
    • familial infantile myasthenia
    • familial infantile myasthenia gravis 2
Homo sapiens (human)
DOID:0110669
  • congenital myasthenic syndrome 14
  • Aliases:
    • CMS14
    • CMSTA3
    • congenital myasthenic syndrome 14, with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 3
Homo sapiens (human)
DOID:0110668
  • congenital myasthenic syndrome 10
  • Aliases:
    • CMS10
    • LGM
    • congenital muscular dystrophy merosin-positive
    • familial limb-girdle myasthenia
Homo sapiens (human)
DOID:0110667
  • congenital myasthenic syndrome 5
  • Aliases:
    • CMS Ic
    • CMS5
    • EAD
    • Engel congenital myasthenic syndrome
    • congenital myasthenic syndrome Engel type
    • congenital myasthenic syndrome type Ic
    • end plate acetylcholinesterase deficiency
Homo sapiens (human)
DOID:0110660
  • congenital myasthenic syndrome 12
  • Aliases:
    • CMS12
    • congenital myasthenia 12 with tubular aggregates
Homo sapiens (human)
DOID:0110658
  • congenital myasthenic syndrome 15
  • Aliases:
    • CMS15
    • congenital myasthenic syndrome 15 without tubular aggregates
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:0110649
  • long QT syndrome 8
  • Aliases:
    • LQT8
Homo sapiens (human)
DOID:0110645
  • long QT syndrome 2
  • Aliases:
    • LQT2
Homo sapiens (human)
DOID:0110644
  • long QT syndrome 1
  • Aliases:
    • LQT1
    • ventricular fibrillation with prolonged QT interval
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: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: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: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: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:0110634
  • congenital muscular dystrophy 1B
  • Aliases:
    • CMD1B
    • MDC1B
    • congenital muscular dystrophy type 1B
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: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:0110629
  • Wolfram syndrome 1
  • Aliases:
    • DIDMOAD
    • WFS1
    • diabetes mellitus AND insipidus with optic atrophy AND deafness
Homo sapiens (human)
DOID:0110594
  • primary ciliary dyskinesia 1
  • Aliases:
    • CILD1
    • primary ciliary dyskinesia 1 with or without situs inversus
Homo sapiens (human)
DOID:0110593
  • autosomal dominant nonsyndromic deafness 9
  • Aliases:
    • DFNA9
    • autosomal dominant deafness 9
Homo sapiens (human)
DOID:0110592
  • autosomal dominant nonsyndromic deafness 70
  • Aliases:
    • DFNA70
    • autosomal dominant deafness 70
Homo sapiens (human)
DOID:0110591
  • autosomal dominant nonsyndromic deafness 7
  • Aliases:
    • DFNA7
    • autosomal dominant deafness 7
Homo sapiens (human)

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Last updated: August 19, 2024