GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4151 - 4175 of 4621 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism
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:0060535
  • Warsaw breakage syndrome
  • Aliases:
    • WABS
Homo sapiens (human)
DOID:0060496
  • respiratory allergy
  • Aliases:
    • airway allergy
Homo sapiens (human)
DOID:0060491
  • SPOAN syndrome
  • Aliases:
    • spastic paraplegia, optic atropy, and neuropathy
    • spastic paraplegia, optic atropy, and neuropathy syndrome
Homo sapiens (human)
DOID:0060490
  • Schimke immuno-osseous dysplasia
  • Aliases:
    • Schimke immunoosseous dysplasia
    • Schimke syndrome
    • immunoosseous dysplasia Schimke type
    • spondyloepiphyseal dysplasia - nephrotic syndrome
Homo sapiens (human)
DOID:0060488
  • Pitt-Hopkins syndrome
Homo sapiens (human)
DOID:0060486
  • Perry syndrome
  • Aliases:
    • parkinsonism with alveolar hypoventilation and mental depression
Homo sapiens (human)
DOID:0060485
  • Mowat-Wilson syndrome
  • Aliases:
    • Hirschsprung disease mental retardation syndrome
    • microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease
Homo sapiens (human)
DOID:0060484
  • EAST syndrome
  • Aliases:
    • SeSAME syndrome
    • epilepsy, ataxia, sensorineural deafness and tubulopathy
    • seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
Homo sapiens (human)
DOID:0060480
  • left ventricular noncompaction
  • Aliases:
    • left ventricular hypertrabeculation
Homo sapiens (human)
DOID:0060479
  • Shwachman-Diamond syndrome
  • Aliases:
    • Shwachman syndrome
    • Shwachman-Bodian-Diamond syndrome
    • Shwachman-Diamond type metaphyseal dysplasia
    • pancreatic insufficiency and bone marrow dysfunction
Homo sapiens (human)
DOID:0060478
  • Zika fever
  • Aliases:
    • Zika virus disease
Homo sapiens (human)
DOID:0060476
  • Perlman syndrome
  • Aliases:
    • nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
    • nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
    • renal hamartomas, nephroblastomatosis and fetal gigantism
Homo sapiens (human)
DOID:0060475
  • myoclonic-atonic epilepsy
  • Aliases:
    • EEOC
    • childhood onset epileptic encephalopathy
Homo sapiens (human)
DOID:0060474
  • familial erythrocytosis 2
  • Aliases:
    • Chuvash erythromatosis
    • Chuvash polycythemia
    • Chuvash type polycythemia
    • ECYT2
    • autosomal recessive benign erythrocytosis
Homo sapiens (human)
DOID:0060473
  • Kabuki syndrome
  • Aliases:
    • KMS
    • Kabuki make up syndrome
    • Niikawa-Kuroki syndrome
Homo sapiens (human)
DOID:0060470
  • salt and pepper syndrome
  • Aliases:
    • salt & pepper syndrome
    • salt-and-pepper syndrome
Homo sapiens (human)
DOID:0060469
  • Miller-Dieker lissencephaly syndrome
  • Aliases:
    • MDS
    • Miller-Dieker syndrome
Homo sapiens (human)
DOID:0060468
  • Holt-Oram syndrome
  • Aliases:
    • atrio-digital syndrome
    • atriodigital dysplasia
    • heart-hand syndrome
Homo sapiens (human)
DOID:0060467
  • humeroradial synostosis
Homo sapiens (human)
DOID:0060466
  • gingival fibromatosis
  • Aliases:
    • hereditary gingival fibromatosis
    • hereditary gingival hyperplasia
Homo sapiens (human)
DOID:0060465
  • fibrochondrogenesis
Homo sapiens (human)
DOID:0060463
  • NUT midline carcinoma
  • Aliases:
    • nuclear protein in testis midline carcinoma
Homo sapiens (human)
DOID:0060462
  • Desbuquois dysplasia
  • Aliases:
    • Desbuquois syndrome
    • micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
Homo sapiens (human)
DOID:0060455
  • Thiel-Behnke corneal dystrophy
  • Aliases:
    • TBCD
    • Waardenburg-Jonker corneal dystrophy
    • anterior limiting membrane dystrophy type II
    • corneal dystrophy honeycomb-shaped
    • corneal dystrophy of Bowman layer type II
Homo sapiens (human)

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Last updated: August 19, 2024