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 11351 - 11375 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0110283
  • autosomal recessive limb-girdle muscular dystrophy type 2J
  • Aliases:
    • LGMD2J
    • muscular dystrophy, limb-girdle, type 2J
Homo sapiens (human)
DOID:0050592
  • asphyxiating thoracic dystrophy
  • Aliases:
    • Jeune syndrome
    • short-rib thoracic dysplasia with or without polydactyly
    • thoracic pelvic phalangeal dystrophy
Homo sapiens (human)
DOID:3969
  • thyroid gland papillary carcinoma
  • Aliases:
    • Papillary carcinoma of the Thyroid gland
Homo sapiens (human)
DOID:0110840
  • Usher syndrome type 2D
  • Aliases:
    • USH2D
    • Usher syndrome type IID
Homo sapiens (human)
DOID:0081342
  • congenital myopathy 8
Homo sapiens (human)
DOID:0060020
  • reticular dysgenesis
  • Aliases:
    • De Vaal disease
Homo sapiens (human)
DOID:9169
  • Wiskott-Aldrich syndrome
  • Aliases:
    • Wiskott syndrome
Homo sapiens (human)
DOID:0110438
  • dilated cardiomyopathy 1JJ
  • Aliases:
    • CMD1JJ
Homo sapiens (human)
DOID:9271
  • ornithine carbamoyltransferase deficiency
  • Aliases:
    • deficiency of citrulline phosphorylase
    • ornithine transcarbamylase deficiency
Homo sapiens (human)
DOID:0111230
  • congenital muscular dystrophy-dystroglycanopathy type A11
  • Aliases:
    • MDDGA11
    • Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
Homo sapiens (human)
DOID:0070473
  • Zaki syndrome
Homo sapiens (human)
DOID:0060578
  • Noonan syndrome 1
  • Aliases:
    • NS1
Homo sapiens (human)
DOID:0081226
  • autosomal recessive intellectual developmental disorder 65
Homo sapiens (human)
DOID:1572
  • normal pressure hydrocephalus
  • Aliases:
    • Low pressure hydrocephalus
Homo sapiens (human)
DOID:0080520
  • Tn polyagglutination syndrome
  • Aliases:
    • galactosyltransferase deficiency
Homo sapiens (human)
DOID:0111397
  • congenital dyserythropoietic anemia type Ib
  • Aliases:
    • CDA, type Ib
    • CDAN1B
Homo sapiens (human)
DOID:0050454
  • periventricular nodular heterotopia
  • Aliases:
    • periventricular heterotopia
Homo sapiens (human)
DOID:0111345
  • transient bullous dermolysis of the newborn
  • Aliases:
    • DEB, bullous dermolysis of the newborn
    • DEB-BDN
Homo sapiens (human)
DOID:0110090
  • short-rib thoracic dysplasia 7 with or without polydactyly
  • Aliases:
    • SRPS5
    • SRTD7
    • short rib-polydactyly syndrome type V
Homo sapiens (human)
DOID:5742
  • pancreatic acinar cell adenocarcinoma
  • Aliases:
    • pancreatic acinar cell carcinoma
Homo sapiens (human)
DOID:11394
  • adult respiratory distress syndrome
  • Aliases:
    • ARDS
    • Non-cardiogenic pulmonary edema
    • Shock lung
    • acute respiratory distress syndrome
    • adult RDS
Homo sapiens (human)
DOID:0080886
  • vitamin D-dependent rickets type 1A
Homo sapiens (human)
DOID:0060263
  • porencephaly
Homo sapiens (human)
DOID:0050331
  • lacrimoauriculodentodigital syndrome 1
  • Aliases:
    • LEVY-HOLLISTER SYNDROME
    • Lacrimo-auriculo-dento-digital syndrome 1
Homo sapiens (human)
DOID:0081234
  • autosomal recessive intellectual developmental disorder 75
Homo sapiens (human)

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Last updated: December 9, 2024