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 4701 - 4725 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0060404
  • chromosome 17q12 deletion syndrome
  • Aliases:
    • 17q12 microdeletion syndrome
Homo sapiens (human)
DOID:0060395
  • chromosome 15q24 deletion syndrome
  • Aliases:
    • 15q24 microdeletion syndrome
Homo sapiens (human)
DOID:0060732
  • chromosome 9p deletion syndrome
  • Aliases:
    • 9p syndrome
    • Alfi syndrome
    • monosomy 9p syndrome
Homo sapiens (human)
DOID:0060768
  • Smith-Magenis syndrome
  • Aliases:
    • 17p11.2 microdeletion syndrome
    • chromosome 17p11.2 deletion syndrome
Homo sapiens (human)
DOID:0111070
  • congenital bile acid synthesis defect 3
  • Aliases:
    • CBAS3
    • oxysterol 7-alpha-hydroxylase deficiency
Homo sapiens (human)
DOID:0050629
  • Aicardi-Goutieres syndrome
  • Aliases:
    • AGS
    • Cree encephalitis
Homo sapiens (human)
DOID:4249
  • Gerstmann-Straussler-Scheinker syndrome
  • Aliases:
    • Gerstmann-Straussler-Scheinker disease
    • PRION DEMENTIA
Homo sapiens (human)
DOID:0050674
  • congenital bile acid synthesis defect
  • Aliases:
    • 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
    • CBA
    • cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
Homo sapiens (human)
DOID:4837
  • Gorham's disease
  • Aliases:
    • Disappearing bone disease
    • Gorham disease
    • essential osteolysis
    • massive osteolysis
    • phantom bone disease
Homo sapiens (human)
DOID:13608
  • biliary atresia
  • Aliases:
    • Atresia of bile duct
    • Congenital biliary atresia
    • biliary atresia, congenital
Homo sapiens (human)
DOID:8869
  • neuromyelitis optica
  • Aliases:
    • Devic's disease
    • Devic's syndrome
Homo sapiens (human)
DOID:13619
  • extrahepatic cholestasis
  • Aliases:
    • extrahepatic biliary Stasis
    • extrahepatic obstructive biliary disease
Homo sapiens (human)
DOID:2388
  • renal artery disease
  • Aliases:
    • renal vascular disease
    • vascular disorder of kidney
Homo sapiens (human)
DOID:0080630
  • B-lymphoblastic leukemia/lymphoma
  • Aliases:
    • B lymphoblastic leukemia/lymphoma
    • B-ALL
    • precursor B lymphoblastic lymphoma/leukemia
Homo sapiens (human)
DOID:3890
  • acute intermittent porphyria
  • Aliases:
    • AIP - acute intermittent porphyria
    • Pyrroloporphyria
    • porphyria intermittent acute
Homo sapiens (human)
DOID:0060903
  • thrombosis
Homo sapiens (human)
DOID:0110078
  • Leber congenital amaurosis 1
  • Aliases:
    • LCA1
    • amaurosis congenita of Leber I
Homo sapiens (human)
DOID:12252
  • obsolete Cushing's syndrome
Homo sapiens (human)
DOID:3947
  • adrenal gland hyperfunction
  • Aliases:
    • Adrenocortical hyperfunction
    • hyperadrenalism
    • hypercortisolism
Homo sapiens (human)
DOID:74
  • hematopoietic system disease
  • Aliases:
    • Blood disease
    • Blood dyscrasia
    • DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS
    • Hematological disease
    • blood disorder
    • disease of haematopoietic system
    • disease of hematopoietic system
    • haematopoietic system disease
Homo sapiens (human)
DOID:0070172
  • spermatogenic failure 15
  • Aliases:
    • SPGF15
Homo sapiens (human)
DOID:2044
  • drug-induced hepatitis
  • Aliases:
    • Drug-induced chronic hepatitis
Homo sapiens (human)
DOID:0050868
  • hepatocellular adenoma
Homo sapiens (human)
DOID:8955
  • sideroblastic anemia
  • Aliases:
    • ANEMIA SIDEROBLASTIC
    • Anemia, hypochromic with iron loading
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)

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Last updated: August 19, 2024