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 3026 - 3050 of 4621 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism
DOID:8456
  • choline deficiency disease
  • Aliases:
    • choline deficiency
Homo sapiens (human)
DOID:0111368
  • cholesterol-ester transfer protein deficiency
  • Aliases:
    • CEPT deficiency
    • familial hyperalphalipoproteinemia
Homo sapiens (human)
DOID:14502
  • cholesterol ester storage disease
  • Aliases:
    • CESD
    • partial LAL deficiency
    • partial LIPA deficiency
    • partial cholesterol ester hydrolase deficiency
    • partial lysosomal acid lipase deficiency
Homo sapiens (human)
DOID:869
  • cholesteatoma
Homo sapiens (human)
DOID:10964
  • cholesteatoma of middle ear
  • Aliases:
    • Cholesteatoma of middle ear and mastoid
    • Cholesteatoma of middle ear and/or mastoid
    • Cholesteatoma of the middle ear
    • Epidermosis of ear
    • Epidermosis of middle ear
    • middle ear cholesteatoma
Homo sapiens (human)
DOID:13580
  • cholestasis
  • Aliases:
    • Obstruction of bile duct
    • bile occlusion
Homo sapiens (human)
DOID:1498
  • cholera
  • Aliases:
    • Cholera - Vibrio cholerae
    • Cholera due to Vibrio cholerae
    • Vibrio cholerae
Homo sapiens (human)
DOID:10211
  • cholelithiasis
Homo sapiens (human)
DOID:11755
  • choledocholithiasis
Homo sapiens (human)
DOID:899
  • choledochal cyst
  • Aliases:
    • Congenital choledochal cyst
    • bile duct cyst
    • biliary cyst
Homo sapiens (human)
DOID:11151
  • cholecystolithiasis
Homo sapiens (human)
DOID:1949
  • cholecystitis
  • Aliases:
    • acute and chronic cholecystitis
    • acute cholecystitis
    • acute on chronic cholecystitis
    • chronic cholecystitis
Homo sapiens (human)
DOID:9446
  • cholangitis
Homo sapiens (human)
DOID:7642
  • cholangiolocellular carcinoma
Homo sapiens (human)
DOID:4947
  • cholangiocarcinoma
  • Aliases:
    • adult primary Cholangiocarcinoma
    • adult primary cholangiocellular carcinoma
    • cholangiosarcoma
Homo sapiens (human)
DOID:9574
  • choanal atresia
  • Aliases:
    • Atresia of nares
    • Imperforate nares
    • posterior choanal atresia
Homo sapiens (human)
DOID:0081419
  • childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
  • Aliases:
    • DYSTONIA 29, CHILDHOOD-ONSET
    • DYTOABG
    • MECR-related neurologic disorder
    • MEPAN syndrome
    • Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration
Homo sapiens (human)
DOID:14203
  • childhood type dermatomyositis
  • Aliases:
    • Juvenile dermatomyositis
    • childhood Dermatomyositis
Homo sapiens (human)
DOID:6082
  • childhood testicular germ cell tumor
  • Aliases:
    • paediatric testicular germ cell neoplasm
    • paediatric testicular germ cell tumour
    • pediatric testicular germ cell neoplasm
    • pediatric testicular germ cell tumor
Homo sapiens (human)
DOID:0060160
  • childhood spinal muscular atrophy
  • Aliases:
    • spinal muscular atrophies of childhood
    • survival motor neuron spinal muscular atrophy
Homo sapiens (human)
DOID:6812
  • childhood pilocytic astrocytoma
  • Aliases:
    • pediatric Pilocytic astrocytoma
Homo sapiens (human)
DOID:6084
  • childhood ovarian germ cell tumor
  • Aliases:
    • paediatric Ovarian germ cell neoplasm
    • paediatric ovarian germ cell tumour
    • pediatric Ovarian germ cell neoplasm
    • pediatric ovarian germ cell tumor
Homo sapiens (human)
DOID:3361
  • childhood osteosarcoma
  • Aliases:
    • pediatric osteosarcoma
Homo sapiens (human)
DOID:6576
  • childhood optic nerve glioma
  • Aliases:
    • glioma of the pediatric visual pathway
Homo sapiens (human)
DOID:0090045
  • childhood onset GLUT1 deficiency syndrome 2
Homo sapiens (human)

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Last updated: August 19, 2024