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 9476 - 9500 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
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:0050745
  • diffuse large B-cell lymphoma
  • Aliases:
    • DLBCL
Homo sapiens (human)
DOID:8567
  • Hodgkin's lymphoma
  • Aliases:
    • HL
    • Hodgkin disease
    • Hodgkin lymphoma
    • Hodgkin's sarcoma
    • Hodgkins lymphoma
    • stage I Subdiaphragmatic Hodgkin Lymphoma
    • stage II Subdiaphragmatic Hodgkin Lymphoma
Homo sapiens (human)
DOID:0070145
  • hereditary sensory and autonomic neuropathy type 5
  • Aliases:
    • HSAN5
    • hereditary sensory and autonomic neuropathy type V
Homo sapiens (human)
DOID:11724
  • limb-girdle muscular dystrophy
  • Aliases:
    • Erb's muscular dystrophy
    • Leyden-Mbius muscular dystrophy
    • limb girdle muscular dystrophy
Homo sapiens (human)
DOID:9883
  • Becker muscular dystrophy
  • Aliases:
    • Benign pseudohypertrophic muscular dystrophy
    • benign congenital myopathy
Homo sapiens (human)
DOID:0110070
  • arrhythmogenic right ventricular dysplasia 1
  • Aliases:
    • ARVC1
    • Uhl anomaly
    • arrhythmogenic right ventricular cardiomyopathy 1
Homo sapiens (human)
DOID:12117
  • pulmonary alveolar microlithiasis
Homo sapiens (human)
DOID:0080857
  • primary ovarian insufficiency 1
  • Aliases:
    • FMR1-related primary ovarian insufficiency
    • Fragile X-associated primary ovarian insufficiency
    • premature ovarian failure 1
Homo sapiens (human)
DOID:3798
  • pleural empyema
  • Aliases:
    • Empyema of pleura
    • Empyema of pleura without fistula
    • Empyema with no fistula
    • Empyema with pleural fistula
    • Empyema without mention of fistula
    • Empyema, chest
    • Pleural empyema with fistula
    • Purulent pleurisy
    • Thorax abscess
    • abscess of pleural cavity
    • abscess of thorax
    • empyema
    • empyema with fistula
    • lung empyema
    • pleural empyema with no fistula
    • purulent pleuritis
    • pyothorax
Homo sapiens (human)
DOID:0081359
  • epidermolytic hyperkeratosis 2
Homo sapiens (human)
DOID:0050759
  • myotonic dystrophy type 2
Homo sapiens (human)
DOID:824
  • periodontitis
  • Aliases:
    • chronic pericementitis
Homo sapiens (human)
DOID:0111982
  • immunodeficiency 56
  • Aliases:
    • IL21R immunodeficiency
    • IMD56
    • combined immunodeficiency due to IL21R deficiency
Homo sapiens (human)
DOID:0080498
  • ovarian dysgenesis 6
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:0112038
  • non-syndromic X-linked intellectual disability 1
  • Aliases:
    • MRX1
    • MRX18
    • MRX78
    • X-linked mental retardation 1
    • X-linked mental retardation 1/78
    • X-linked mental retardation 18
    • X-linked mental retardation 78
Homo sapiens (human)
DOID:0111996
  • immunodeficiency 51
  • Aliases:
    • CANDF5
    • IMD51
    • familial candidiasis 5
Homo sapiens (human)
DOID:0060536
  • mitochondrial complex I deficiency
  • Aliases:
    • isolated NADH-CoQ reductase deficiency
    • isolated NADH-coenzyme Q reductase deficiency
    • isolated NADH-ubiquinone reductase deficiency
    • isolated mitochondrial respiratory chain complex I deficiency
Homo sapiens (human)
DOID:0110626
  • primary ciliary dyskinesia 2
  • Aliases:
    • CILD2
    • primary ciliary dyskinesia 2 with or without situs inversus
Homo sapiens (human)
DOID:5733
  • salpingitis
Homo sapiens (human)
DOID:9970
  • obesity
Homo sapiens (human)
DOID:11165
  • common wart
Homo sapiens (human)
DOID:0110014
  • age related macular degeneration 1
  • Aliases:
    • ARMD1
    • age related maculopathy 1
Homo sapiens (human)
DOID:0050012
  • chikungunya
  • Aliases:
    • Chikungunya fever
Homo sapiens (human)

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Last updated: December 9, 2024