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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 11926 - 11950 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0110398
  • retinitis pigmentosa 51
  • Aliases:
    • RP51
Homo sapiens (human)
DOID:0110130
  • Bardet-Biedl syndrome 8
  • Aliases:
    • BBS8
Homo sapiens (human)
DOID:0111025
  • cone-rod dystrophy 19
  • Aliases:
    • CORD19
Homo sapiens (human)
DOID:0110315
  • hypertrophic cardiomyopathy 9
  • Aliases:
    • CMH9
    • cardiomyopathy, familial hypertrophic, 9
Homo sapiens (human)
DOID:0111188
  • myofibrillar myopathy 9
  • Aliases:
    • Edstrom myopathy
    • HIBM-ERF
    • HMERF
    • Hereditary inclusion body myopathy with early respiratory failure
    • MFM-titinopathy
    • MFM9
    • MPRM
    • Myofibrillar myopathy-titinopathy
    • autosomal dominant distal myopathy with early respiratory failure
    • hereditary myopathy with early respiratory failure
    • myofibrillar myopathy 9 with early respiratory failure
    • proximal myopathy with early respiratory muscle involvement
Homo sapiens (human)
DOID:0081341
  • congenital myopathy 5
  • Aliases:
    • Salih myopathy
    • congenital myopathy-5 with cardiomyopathy
Homo sapiens (human)
DOID:0110430
  • dilated cardiomyopathy 1G
  • Aliases:
    • CMD1G
Homo sapiens (human)
DOID:0110283
  • autosomal recessive limb-girdle muscular dystrophy type 2J
  • Aliases:
    • LGMD2J
    • muscular dystrophy, limb-girdle, type 2J
Homo sapiens (human)
DOID:0111078
  • tibial muscular dystrophy
  • Aliases:
    • Finnish tibial muscular dystrophy
    • TMD
    • Tardive tibial muscular dystrophy
    • Udd myopathy
    • Udd type distal myopathy
    • distal titinopathy
Homo sapiens (human)
DOID:0070466
  • carpal tunnel syndrome 1
  • Aliases:
    • CTS1
Homo sapiens (human)
DOID:0050638
  • transthyretin amyloidosis
  • Aliases:
    • ATTR amyloidosis
    • ATTRm amyloidosis
    • Amyloidosis, hereditary, transthyretin-related
    • Corino de Andrade's disease
    • Familial transthyretin amyloidosis
    • TTR amyloidosis
    • familial amyloid polyneuropathy
    • paramyloidosis
    • transthyretin-related hereditary amyloidosis
Homo sapiens (human)
DOID:0080219
  • dystransthyretinemic hyperthyroxinemia
Homo sapiens (human)
DOID:0080918
  • polymicrogyria
Homo sapiens (human)
DOID:0112232
  • lissencephaly 3
  • Aliases:
    • LIS3
Homo sapiens (human)
DOID:0112234
  • microlissencephaly
Homo sapiens (human)
DOID:2490
  • congenital nervous system abnormality
  • Aliases:
    • congenital neurologic anomaly
Homo sapiens (human)
DOID:0060355
  • amyotrophic lateral sclerosis type 22
  • Aliases:
    • ALS 22
    • amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia
    • amyotrophic lateral sclerosis 22
Homo sapiens (human)
DOID:0090136
  • complex cortical dysplasia with other brain malformations 6
  • Aliases:
    • CDCBM56
Homo sapiens (human)
DOID:0112242
  • congenital symmetric circumferential skin creases 1
  • Aliases:
    • CSCSC1
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0060260
  • ptosis
  • Aliases:
    • blepharoptosis
    • drooping eyelid
Homo sapiens (human)
DOID:0112227
  • tubulinopathy
Homo sapiens (human)
DOID:0090132
  • complex cortical dysplasia with other brain malformations 7
  • Aliases:
    • CDCBM7
    • polymicrogyria due to TUBB2B mutation
Homo sapiens (human)
DOID:13934
  • facial paralysis
  • Aliases:
    • Facial Palsy
Homo sapiens (human)
DOID:0090102
  • autosomal dominant macrothrombocytopenia TUBB1-related
Homo sapiens (human)
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Last updated: December 9, 2024