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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 8876 - 8900 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0110444
  • dilated cardiomyopathy 1X
  • Aliases:
    • CMD1X
    • dilated cardiomyopathy with mild or no proximal muscle weakness
Homo sapiens (human)
DOID:0110443
  • dilated cardiomyopathy 1B
Homo sapiens (human)
DOID:0110296
  • autosomal recessive limb-girdle muscular dystrophy type 2M
  • Aliases:
    • LGMD2M
    • MDDGC4
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
Homo sapiens (human)
DOID:0112379
  • muscular dystrophy-dystroglycanopathy type B4
  • Aliases:
    • MDDGB4
    • congenital muscular dystrophy FKTN-related
Homo sapiens (human)
DOID:0070097
  • oculocutaneous albinism type III
  • Aliases:
    • OCA3
    • Rufous Oculocutaneous Albinism
Mus musculus (house mouse)
DOID:0070095
  • oculocutaneous albinism type IB
  • Aliases:
    • Albinism, Yellow Mutant Type
    • OCA1B
Mus musculus (house mouse)
DOID:11211
  • buphthalmos
  • Aliases:
    • primary congenital glaucoma 3A
    • simple buphthalmos
Mus musculus (house mouse)
DOID:0070094
  • oculocutaneous albinism type IA
  • Aliases:
    • OCA1A
    • Oculocutaneous Albinism, Tyrosinase-Negative
Mus musculus (house mouse)
DOID:8465
  • retinoschisis
Mus musculus (house mouse)
DOID:10629
  • microphthalmia
  • Aliases:
    • microphthalmos
    • simple microphthalmos
Homo sapiens (human)
DOID:768
  • retinoblastoma
  • Aliases:
    • RB
    • RB - Retinoblastoma
    • neuroblastoma of Retina
Homo sapiens (human)
DOID:0111935
  • immunodeficiency 16
  • Aliases:
    • IMD16
    • OX40 deficiency
    • combined immunodeficiency due to OX40 deficiency
    • combined immunodeficiency with childhood-onset Kaposi sarcoma
    • combined immunodeficiency with impaired immunity to HHV-8
    • combined immunodeficiency with impaired immunity to human herpes virus 8
Mus musculus (house mouse)
DOID:0110189
  • Leber congenital amaurosis 15
  • Aliases:
    • LCA15
Mus musculus (house mouse)
DOID:0110381
  • retinitis pigmentosa 14
  • Aliases:
    • RP14
Mus musculus (house mouse)
DOID:0090136
  • complex cortical dysplasia with other brain malformations 6
  • Aliases:
    • CDCBM56
Mus musculus (house mouse)
DOID:0112242
  • congenital symmetric circumferential skin creases 1
  • Aliases:
    • CSCSC1
Mus musculus (house mouse)
DOID:0090041
  • torsion dystonia 4
Mus musculus (house mouse)
DOID:0060798
  • hypomyelinating leukodystrophy 6
  • Aliases:
    • H-ABC
    • HABC
    • HLD6
    • hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum
    • hypomyelination with atrophy of basal ganglia and cerebellum
Mus musculus (house mouse)
DOID:0090137
  • complex cortical dysplasia with other brain malformations 1
  • Aliases:
    • CDCBM1
    • cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Mus musculus (house mouse)
DOID:0081017
  • congenital fibrosis of the extraocular muscles 3A
Mus musculus (house mouse)
DOID:0090135
  • complex cortical dysplasia with other brain malformations 5
  • Aliases:
    • CDCBM5
Mus musculus (house mouse)
DOID:0112227
  • tubulinopathy
Mus musculus (house mouse)
DOID:0050997
  • cerebellar ataxia, mental retardation and dysequlibrium syndrome
  • Aliases:
    • CAMRQ
    • Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)
    • Uner Tan syndrome
    • VLDLR Cerebellar Hypoplasia
Mus musculus (house mouse)
DOID:13934
  • facial paralysis
  • Aliases:
    • Facial Palsy
Mus musculus (house mouse)
DOID:0090132
  • complex cortical dysplasia with other brain malformations 7
  • Aliases:
    • CDCBM7
    • polymicrogyria due to TUBB2B mutation
Mus musculus (house mouse)
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Last updated: December 9, 2024