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 3826 - 3850 of 4621 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:0112248
  • 17-beta hydroxysteroid dehydrogenase 3 deficiency
  • Aliases:
    • 17-KSR deficiency
    • 17-beta-hydroxysteroid dehydrogenase 3 deficiency
    • 17-ketoreductase deficiency
    • 17-ketosteroidreductase deficiency
    • 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
    • male pseudohermaphroditism with gynecomastia
    • neutral 17-beta-hydroxysteroid oxidoreductase deficiency
Homo sapiens (human)
DOID:0050951
  • hereditary ataxia
Homo sapiens (human)
DOID:0050857
  • Perrault syndrome
Homo sapiens (human)
DOID:1701
  • steroid inherited metabolic disorder
Homo sapiens (human)
DOID:4085
  • trophoblastic neoplasm
  • Aliases:
    • Trophoblastic tumor
Homo sapiens (human)
DOID:0070224
  • progressive familial intrahepatic cholestasis 4
  • Aliases:
    • PFIC4
    • TJP2 deficit
Homo sapiens (human)
DOID:0111071
  • congenital bile acid synthesis defect 1
  • Aliases:
    • CBAS1
Homo sapiens (human)
DOID:12144
  • low compliance bladder
  • Aliases:
    • Low bladder compliance
    • hyperactivity of bladder
    • hypertonic bladder
    • hypertonicity of bladder
Homo sapiens (human)
DOID:0050788
  • proximal symphalangism
  • Aliases:
    • Cushing's symphalangism
Homo sapiens (human)
DOID:9159
  • gas gangrene
  • Aliases:
    • Gas bacillus infection
Homo sapiens (human)
DOID:252
  • alcoholic psychosis
  • Aliases:
    • Alcoholic psychoses
Homo sapiens (human)
DOID:0050809
  • mucopolysaccharidosis IX
Homo sapiens (human)
DOID:1025
  • tuberculoid leprosy
  • Aliases:
    • Smooth leprosy
    • type T leprosy
Homo sapiens (human)
DOID:10264
  • mumps
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:1733
  • cryptosporidiosis
  • Aliases:
    • Cryptosporidial gastroenteritis
    • Infection by Cryptosporidium
    • intestinal cryptosporidiosis
Homo sapiens (human)
DOID:9938
  • dacryocystitis
Homo sapiens (human)
DOID:950
  • dacryoadenitis
Homo sapiens (human)
DOID:853
  • polymyalgia rheumatica
Homo sapiens (human)
DOID:9513
  • plasma cell leukemia
  • Aliases:
    • plasma cell leukaemia
    • plasmacytic leukaemia
    • plasmacytic leukemia
Homo sapiens (human)
DOID:12969
  • central nervous system leukemia
  • Aliases:
    • Leukemia of the CNS
Homo sapiens (human)
DOID:0080998
  • acute necrotizing pancreatitis
Homo sapiens (human)
DOID:3261
  • hyper IgE recurrent infection syndrome 1
  • Aliases:
    • Job syndrome
    • Job's syndrome
    • hyperimmunoglobulin E syndrome
Homo sapiens (human)
DOID:10128
  • venous insufficiency
  • Aliases:
    • peripheral venous insufficiency
Homo sapiens (human)
DOID:10460
  • nasopharyngitis
  • Aliases:
    • chronic nasopharyngitis
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024