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 8276 - 8300 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:6612
  • leukocyte adhesion deficiency
  • Aliases:
    • Congenital leukocyte adherence deficiency
Homo sapiens (human)
DOID:0110910
  • leukocyte adhesion deficiency 1
  • Aliases:
    • LAD1
    • LFA1 immunodeficiency
    • leukocyte adhesion deficiency type I
    • lymphocyte function-associated antigen 1 immunodeficiency
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:0060737
  • junctional epidermolysis bullosa Herlitz type
  • Aliases:
    • Herlitz type epidermolysis bullosa junctionalis
    • Herlitz-Pearson-type epidermolysis bullosa
    • JEB-H
    • JEB-Herlitz type
    • epidermolysis bullosa letalis
    • junctional epidermolysis bullosa generalisata gravis
    • junctional epidermolysis bullosa, Herlitz-Pearson type
Homo sapiens (human)
DOID:0060733
  • junctional epidermolysis bullosa with pyloric atresia
  • Aliases:
    • Carmi syndrome
    • JEB-PA
    • epidermolysis bullosa junctionalis with pyloric atresia
    • junctional epidermolysis bullosa-pyloric atresia syndrome
Homo sapiens (human)
DOID:0060691
  • platelet-type bleeding disorder 16
  • Aliases:
    • autosomal dominant Glanzmann thrombasthenia
    • autosomal dominant thrombasthenia of Glanzmann and Naegeli
Homo sapiens (human)
DOID:13514
  • venous tributary occlusion of retina
  • Aliases:
    • Venous tributary (branch) occlusion of retina
    • Venous tributary branch occlusion of retina
Homo sapiens (human)
DOID:0060573
  • von Willebrand's disease 1
  • Aliases:
    • VWD type 1
    • VWD1
    • von Willebrand disease type 1
    • von Willebrand disease type I
Homo sapiens (human)
DOID:2219
  • Glanzmann's thrombasthenia
  • Aliases:
    • BDPLT2
    • Glanzmann thrombasthenia
    • Glycoprotein IIb/IIIa defect
    • Thrombocytasthenia
    • deficiency of GP IIb-IIIa complex
    • deficiency of glycoprotein complex IIb-IIIa
    • deficiency of platelet fibrinogen receptor
    • platelet glycoprotein IIb-IIIa deficiency
    • platelet-type bleeding disorder 2
    • thrombasthenia of Glanzmann and Naegeli
Homo sapiens (human)
DOID:0080136
  • multiple mitochondrial dysfunctions syndrome 4
Homo sapiens (human)
DOID:0111835
  • congenital nongoitrous hypothyroidism 9
  • Aliases:
    • CHNG9
Homo sapiens (human)
DOID:0111969
  • immunodeficiency 39
  • Aliases:
    • IMD39
Homo sapiens (human)
DOID:0110895
  • inflammatory bowel disease 14
  • Aliases:
    • IBD14
Homo sapiens (human)
DOID:0050749
  • peripheral T-cell lymphoma
Homo sapiens (human)
DOID:0050744
  • anaplastic large cell lymphoma
Homo sapiens (human)
DOID:0081156
  • common variable immunodeficiency 14
Homo sapiens (human)
DOID:0081327
  • neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
  • Aliases:
    • NEDAMSS
Homo sapiens (human)
DOID:8557
  • oropharynx cancer
  • Aliases:
    • Oropharyngeal carcinoma
    • malignant Oropharyngeal tumor
    • malignant tumor of oropharynx
    • malignant tumour of mesopharynx
    • oropharyngeal cancer
Saccharomyces cerevisiae S288C
DOID:0090011
  • immunodeficiency-centromeric instability-facial anomalies syndrome 4
  • Aliases:
    • ICF syndrome 4
Saccharomyces cerevisiae S288C
DOID:5052
  • melioidosis
  • Aliases:
    • Nightcliff gardener's disease
    • Pseudoglanders
    • Whitmore's disease
    • acute and fulminating melioidosis
    • subacute and chronic melioidosis
Homo sapiens (human)
DOID:0111113
  • nephronophthisis 2
  • Aliases:
    • NPH2
    • NPHP2
    • infantile nephronophthisis 2
Homo sapiens (human)
DOID:0080289
  • orofaciodigital syndrome XVII
Homo sapiens (human)
DOID:0070346
  • neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Homo sapiens (human)
DOID:0050470
  • Donohue syndrome
  • Aliases:
    • Leprechaunism
Homo sapiens (human)
DOID:0070220
  • familial hyperinsulinemic hypoglycemia 5
  • Aliases:
    • HHF5
    • hyperinsulinemic hypoglycemia due to INSR deficiency
    • hyperinsulinemic hypoglycemia due to insulin receptor deficiency
    • hyperinsulinism due to INSR deficiency
Homo sapiens (human)

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Last updated: February 17, 2025