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 1451 - 1475 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0060261
  • congenital ptosis
Homo sapiens (human)
DOID:0060260
  • ptosis
  • Aliases:
    • blepharoptosis
    • drooping eyelid
Homo sapiens (human)
DOID:6682
  • spondylolisthesis
Homo sapiens (human)
DOID:10426
  • Klippel-Feil syndrome
  • Aliases:
    • Klippel-Feil and Turner syndrome
    • Klippel-Feil deformity, deafness and facial asymmetry
    • autosomal dominant Klippel-Feil syndrome
    • congenital dystrophia brevicollis
    • congenital synostosis of cervical vertebrae
Homo sapiens (human)
DOID:1703
  • Richter's syndrome
  • Aliases:
    • Richter syndrome
Homo sapiens (human)
DOID:1040
  • chronic lymphocytic leukemia
  • Aliases:
    • B-cell chronic lymphocytic leukaemia
    • B-cell chronic lymphocytic leukemia
    • CLL
    • chronic lymphatic leukaemia
    • chronic lymphatic leukemia
    • chronic lymphocytic leukaemia
    • lymphoplasmacytic leukaemia
    • lymphoplasmacytic leukemia
Homo sapiens (human)
DOID:0060467
  • humeroradial synostosis
Homo sapiens (human)
DOID:13994
  • cleidocranial dysplasia
  • Aliases:
    • Marie-Sainton Disease
    • cleidocranial dysostosis
Homo sapiens (human)
DOID:9827
  • radioulnar synostosis
Homo sapiens (human)
DOID:12603
  • acute leukemia
  • Aliases:
    • Stem cell Leukemia
    • Stem cell leukaemia
Homo sapiens (human)
DOID:0080073
  • spina bifida occulta
Homo sapiens (human)
DOID:0060577
  • 3MC syndrome 3
Homo sapiens (human)
DOID:0060225
  • 3MC syndrome
  • Aliases:
    • craniofacial-ulnar-renal syndrome
    • oculopalatoskeletal syndrome
Homo sapiens (human)
DOID:1432
  • blindness
  • Aliases:
    • vision impairment
    • vision loss
    • visual impairment
Homo sapiens (human)
DOID:10584
  • retinitis pigmentosa
  • Aliases:
    • pericentral pigmentary retinopathy
Homo sapiens (human)
DOID:11105
  • fundus albipunctatus
  • Aliases:
    • Pigmentary retinal dystrophy
    • retinitis punctata albescens
Homo sapiens (human)
DOID:92
  • speech disorder
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: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: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:3529
  • congenital myopathy 1A
  • Aliases:
    • central core disease
    • central core myopathy
Homo sapiens (human)
DOID:0110634
  • congenital muscular dystrophy 1B
  • Aliases:
    • CMD1B
    • MDC1B
    • congenital muscular dystrophy type 1B
Homo sapiens (human)
DOID:3191
  • nemaline myopathy
  • Aliases:
    • Nemaline body disease
    • nemaline rod myopathy
    • rod body disease
    • rod myopathy
Homo sapiens (human)

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Last updated: August 19, 2024