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 6126 - 6150 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0060601
  • alpha-2-plasmin inhibitor deficiency
  • Aliases:
    • antiplasmin defiency
    • plasmin inhibitor deficiency
Homo sapiens (human)
DOID:0060900
  • Parkinson's disease 14
  • Aliases:
    • Dystonia-Parkinsonism Adult-Onset
    • autosomal recessive Parkinson disease 14
    • autosomal recessive Parkinson's disease 14
Homo sapiens (human)
DOID:0111059
  • Bernard-Soulier syndrome type A2
  • Aliases:
    • BSSA2
Homo sapiens (human)
DOID:0080839
  • X-linked warfarin sensitivity
Homo sapiens (human)
DOID:3755
  • antithrombin III deficiency
  • Aliases:
    • AT III deficiency
    • hereditary thrombophilia due to congenital antithrombin deficiency
Homo sapiens (human)
DOID:0070395
  • developmental and epileptic encephalopathy 110
  • Aliases:
    • DEE110
    • early infantile epileptic encephalopathy 110
Homo sapiens (human)
DOID:0111581
  • C syndrome
  • Aliases:
    • OTCS
    • Opitz C trigonocephaly
    • Opitz trigonocephaly C syndrome
    • Opitz trigonocephaly syndrome
    • trigonocephaly C syndrome
Homo sapiens (human)
DOID:0111998
  • immunodeficiency 66
  • Aliases:
    • IMD66
Homo sapiens (human)
DOID:5022
  • aflatoxins-related hepatocellular carcinoma
Homo sapiens (human)
DOID:8712
  • neurofibromatosis
Homo sapiens (human)
DOID:0070409
  • autosomal recessive spinocerebellar ataxia 28
  • Aliases:
    • SCAR28
Homo sapiens (human)
DOID:0080507
  • Cornelia de Lange syndrome 3
  • Aliases:
    • CDLS3
    • Cornelia De Lange syndrome 3 with or without midline brain defects
Homo sapiens (human)
DOID:12259
  • hemophilia B
  • Aliases:
    • Congenital factor IX deficiency
    • Congenital factor IX disorder
    • deficiency, functional factor IX
    • factor IX deficiency
Homo sapiens (human)
DOID:0080081
  • nonsyndromic congenital nail disorder 3
Homo sapiens (human)
DOID:3165
  • skin benign neoplasm
  • Aliases:
    • neoplasm of skin
    • neoplasm of skin by site
    • skin neoplasm
    • tumor of the skin
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:0070282
  • primary autosomal recessive microcephaly 8
  • Aliases:
    • MCPH8
Homo sapiens (human)
DOID:0111451
  • progressive myoclonus epilepsy 8
  • Aliases:
    • EMP8
    • PME type 8
    • progressive myoclonic epilepsy due to CERS1 deficiency
    • progressive myoclonus epilepsy type 8
Homo sapiens (human)
DOID:0111275
  • speech-language disorder-1
  • Aliases:
    • CAS
    • articulatory apraxia
    • childhood apraxia of speech
    • developmental apraxia of speech
    • developmental verbal dyspraxia
    • speech and language disorder with orofacial dyspraxia
    • speech-language disorder type 1
Homo sapiens (human)
DOID:848
  • arthritis
  • Aliases:
    • Inflammatory disorder of joint
Homo sapiens (human)
DOID:11721
  • glycogen storage disease VII
  • Aliases:
    • Glycogen storage disease 7
    • Glycogen storage disease, type VII
    • Muscle phosphofructokinase deficiency
    • glycogen storage disease type VII
    • phosphofructokinase myopathy
Homo sapiens (human)
DOID:0110734
  • neurodegeneration with brain iron accumulation
  • Aliases:
    • NBIA
Homo sapiens (human)
DOID:1612
  • breast cancer
  • Aliases:
    • breast tumor
    • malignant neoplasm of breast
    • malignant tumor of the breast
    • mammary cancer
    • mammary tumor
    • primary breast cancer
Homo sapiens (human)
DOID:9498
  • pulmonary eosinophilia
Homo sapiens (human)
DOID:0110495
  • autosomal recessive nonsyndromic deafness 37
  • Aliases:
    • DFNB37
    • autosomal recessive deafness 37
Homo sapiens (human)

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Last updated: December 9, 2024