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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 14226 - 14250 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0050962
  • spinocerebellar ataxia type 12
Mus musculus (house mouse)
DOID:0080119
  • mitochondrial DNA depletion syndrome 1
  • Aliases:
    • mitochondrial DNA depletion syndrome 1 (MNGIE type)
    • mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
Mus musculus (house mouse)
DOID:0111989
  • immunodeficiency 35
  • Aliases:
    • IMD35
    • TYK2 deficiency
    • autosomal recessiv HIES with atypical mycobacteriosis
    • autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis
    • susceptibility to infection due to TYK2 deficiency
    • tyrosine kinase 2 deficiency
Homo sapiens (human)
DOID:0110985
  • Joubert syndrome 16
  • Aliases:
    • JBTS16
Mus musculus (house mouse)
DOID:0070095
  • oculocutaneous albinism type IB
  • Aliases:
    • Albinism, Yellow Mutant Type
    • OCA1B
Homo sapiens (human)
DOID:8465
  • retinoschisis
Homo sapiens (human)
DOID:0070094
  • oculocutaneous albinism type IA
  • Aliases:
    • OCA1A
    • Oculocutaneous Albinism, Tyrosinase-Negative
Homo sapiens (human)
DOID:0111234
  • congenital muscular dystrophy-dystroglycanopathy A7
  • Aliases:
    • MDDGA7
    • Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7
Homo sapiens (human)
DOID:0110295
  • autosomal recessive limb-girdle muscular dystrophy type 2U
  • Aliases:
    • LGMD2U
    • MDDGC7
    • autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
    • muscular dystrophy limb-girdle type 2U
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
Homo sapiens (human)
DOID:0060300
  • complement component 7 deficiency
Homo sapiens (human)
DOID:0070097
  • oculocutaneous albinism type III
  • Aliases:
    • OCA3
    • Rufous Oculocutaneous Albinism
Homo sapiens (human)
DOID:0060301
  • type I complement component 8 deficiency
Homo sapiens (human)
DOID:0080828
  • VEXAS syndrome
  • Aliases:
    • vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome
Homo sapiens (human)
DOID:0111827
  • X-linked spinal muscular atrophy 2
  • Aliases:
    • SMAX2
    • X-linked distal arthrogryposis multiplex congenita
    • X-linked spinal muscular atrophy type 2
    • infantile-onset X-linked spinal muscular atrophy
    • spinal muscular atrophy with arthrogryposis
Homo sapiens (human)
DOID:0060302
  • type II complement component 8 deficiency
Homo sapiens (human)
DOID:0080403
  • orofacial cleft 10
  • Aliases:
    • nonsyndromic cleft lip with or without cleft palate 10
Homo sapiens (human)
DOID:2355
  • anemia
  • Aliases:
    • anaemia
Xenopus laevis (African clawed frog)
DOID:8997
  • polycythemia vera
  • Aliases:
    • Osler-Vaquez syndrome
    • Polycythaemia rubra vera
    • Proliferative polycythaemia
    • chronic erythremia
Xenopus laevis (African clawed frog)
DOID:8432
  • polycythemia
  • Aliases:
    • Erythrocythemia
Xenopus laevis (African clawed frog)
DOID:0060652
  • familial erythrocytosis 1
  • Aliases:
    • ECYT1
    • autosomal dominant benign erythrocytosis
    • primary familial and congenital polycythemia
Xenopus laevis (African clawed frog)
DOID:0070474
  • childhood-onset neurodegeneration with brain atrophy
  • Aliases:
    • CONDBA
    • childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Homo sapiens (human)
DOID:0060303
  • complement component 9 deficiency
Homo sapiens (human)
DOID:0110027
  • age related macular degeneration 15
  • Aliases:
    • ARMD15
Homo sapiens (human)
DOID:0080254
  • orofaciodigital syndrome XVI
Xenopus laevis (African clawed frog)
DOID:0080253
  • Meckel syndrome 13
Xenopus laevis (African clawed frog)
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Last updated: December 9, 2024