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 1076 - 1100 of 4621 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:4138
  • bile duct disease
  • Aliases:
    • bile duct disorder
    • disorder of bile duct
Homo sapiens (human)
DOID:0111530
  • linear nevus sebaceous syndrome
  • Aliases:
    • JNP
    • Jadassohn nevus phakomatosis
    • SFM syndrome
    • Schimmelpenning Feuerstein Mims syndrome
    • Schimmelpenning syndrome
    • Solomon syndrome
    • nevus sebaceus of Jadassohn
    • nevus sebaceus syndrome
    • organoid nevus phakomatosis
    • organoid nevus syndrome
Homo sapiens (human)
DOID:227
  • ankylosis
Homo sapiens (human)
DOID:0050644
  • arterial calcification of infancy
  • Aliases:
    • generalized arterial calcification of infancy
    • idiopathic infantile arterial calcification
    • infantile arteriosclerosis
Homo sapiens (human)
DOID:0050948
  • autosomal dominant hypophosphatemic rickets
Homo sapiens (human)
DOID:13401
  • angioid streaks
Homo sapiens (human)
DOID:0050949
  • autosomal recessive hypophosphatemic rickets
Homo sapiens (human)
DOID:0060861
  • microphthalmia with limb anomalies
  • Aliases:
    • MLA
    • OAS
    • Waardenburg anophthalmia syndrome
    • anophthalmia-syndactyly syndrome
    • ophthalmoacromelic syndrome
Homo sapiens (human)
DOID:0090024
  • split hand-foot malformation 1 with sensorineural hearing loss
  • Aliases:
    • SHFM1D
    • congenital deafness with split hands and feet
Homo sapiens (human)
DOID:1933
  • Rubinstein-Taybi syndrome
  • Aliases:
    • Broad Thumb-Hallux syndrome
    • Rubinstein syndrome
    • proximal chromosome 16p13.3 deletion syndrome
Homo sapiens (human)
DOID:2926
  • Klippel-Trenaunay syndrome
  • Aliases:
    • Haemangiectatic hypertrophy
    • Klippel-Trenaunay-Weber syndrome
    • angioosteohypertrophy syndrome
Homo sapiens (human)
DOID:14699
  • thrombocytopenia-absent radius syndrome
  • Aliases:
    • Radial aplasia-thrombocytopenia syndrome
    • Thrombocytopenia with absent radii (TAR) syndrome
Homo sapiens (human)
DOID:0060468
  • Holt-Oram syndrome
  • Aliases:
    • atrio-digital syndrome
    • atriodigital dysplasia
    • heart-hand syndrome
Homo sapiens (human)
DOID:9467
  • nail-patella syndrome
  • Aliases:
    • Fong disease
    • Turner-Kiser syndrome
    • hereditary onychoostedysplasia
    • iliac horn syndrome
    • nail patella syndrome
Homo sapiens (human)
DOID:14679
  • VACTERL association
Homo sapiens (human)
DOID:0060551
  • poikiloderma with neutropenia
  • Aliases:
    • poikiloderma with neutropenia, Clericuzio type
Homo sapiens (human)
DOID:2685
  • ossifying fibromyxoid tumor
  • Aliases:
    • Ossifying Fibromyxoma
    • ossifying fibromyxoid tumour
Homo sapiens (human)
DOID:3093
  • nervous system cancer
  • Aliases:
    • malignant neoplasm of nervous system
    • neoplasm of nervous system
    • nervous system neoplasm
    • neural neoplasm
    • neural tumor
    • tumor of the nervous system
Homo sapiens (human)
DOID:11459
  • pseudotumor cerebri
  • Aliases:
    • benign intracranial hypertension
    • idiopathic intracranial hypertension
Homo sapiens (human)
DOID:9428
  • intracranial hypertension
  • Aliases:
    • Raised intracranial pressure
Homo sapiens (human)
DOID:0080356
  • IgG4-related disease
Homo sapiens (human)
DOID:0060783
  • ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
  • Aliases:
    • EEC syndrome 3
    • EEC3
Homo sapiens (human)
DOID:0060784
  • ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
  • Aliases:
    • EEC syndrome 1
    • EEC1
Homo sapiens (human)
DOID:0060782
  • EEC syndrome
  • Aliases:
    • Rudiger syndrome 1
    • Walker-Clodius syndrome
    • ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome
    • ectrodactyly-ectodermal dysplasia-clefting syndrome
Homo sapiens (human)
DOID:8445
  • intestinal volvulus
  • Aliases:
    • Twist of intestine, bowel, or colon
    • Volvulus
    • familial intestinal malrotation
    • volvulus of midgut
Homo sapiens (human)

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Last updated: August 19, 2024