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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 6951 - 6975 of 7942 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0112218
  • developmental and epileptic encephalopathy 83
  • Aliases:
    • DEE83
    • early infantile epileptic encephalopathy 83
Saccharomyces cerevisiae S288C
DOID:0112218
  • developmental and epileptic encephalopathy 83
  • Aliases:
    • DEE83
    • early infantile epileptic encephalopathy 83
Homo sapiens (human)
DOID:12638
  • hypertrophic pyloric stenosis
  • Aliases:
    • congenital hypertrophic pyloric stenosis
    • congenital or infantile stricture of pylorus
Homo sapiens (human)
DOID:0060062
  • familial juvenile hyperuricemic nephropathy
Homo sapiens (human)
DOID:9643
  • babesiosis
  • Aliases:
    • Babesiasis
    • Infection by babesia
    • piroplasmosis
Homo sapiens (human)
DOID:0050833
  • orotic aciduria
Homo sapiens (human)
DOID:11702
  • dysgammaglobulinemia
Homo sapiens (human)
DOID:0060759
  • immunodeficiency with hyper IgM type 5
  • Aliases:
    • HIGM5
    • hyper-IgM syndrome 5
    • hyper-IgM syndrome due to UNG deficiency
    • hyper-IgM syndrome due to uracil N-glycosylase
Homo sapiens (human)
DOID:0060758
  • immunodeficiency with hyper-IgM type 2
  • Aliases:
    • AID deficiency
    • HIGM2
    • activation-induced cytidine deaminase deficiency
    • hyper-IgM syndrome type 2
Homo sapiens (human)
DOID:11702
  • dysgammaglobulinemia
Saccharomyces cerevisiae S288C
DOID:0060759
  • immunodeficiency with hyper IgM type 5
  • Aliases:
    • HIGM5
    • hyper-IgM syndrome 5
    • hyper-IgM syndrome due to UNG deficiency
    • hyper-IgM syndrome due to uracil N-glycosylase
Saccharomyces cerevisiae S288C
DOID:0050833
  • orotic aciduria
Saccharomyces cerevisiae S288C
DOID:0070265
  • congenital disorder of glycosylation type IIm
  • Aliases:
    • SLC35A2-CDG
    • congenital disorder of glycosylation type 2m
    • developmental and epileptic encephalopathy 22
    • epileptic encephalopathy, early infantile, 22
Drosophila melanogaster (fruit fly)
DOID:0112218
  • developmental and epileptic encephalopathy 83
  • Aliases:
    • DEE83
    • early infantile epileptic encephalopathy 83
Mus musculus (house mouse)
DOID:8692
  • myeloid leukemia
  • Aliases:
    • Non-Lymphocytic Leukemia
    • leukaemia myelogenous
    • leukemia myelogenous
    • myeloid granulocytic leukaemia
    • myeloid granulocytic leukemia
    • myeloid leukaemia
Rattus norvegicus (Norway rat)
DOID:2741
  • bilirubin metabolic disorder
  • Aliases:
    • hereditary hyperbilirubinemia
    • hyperbilirubinemia
Rattus norvegicus (Norway rat)
DOID:3803
  • Crigler-Najjar syndrome
  • Aliases:
    • Bilirubin UDP glucuronyl transferase deficiency
    • Crigler Najjar syndrome
    • Crigler-Najjar syndrome, type I
Rattus norvegicus (Norway rat)
DOID:2739
  • Gilbert syndrome
  • Aliases:
    • Constitutional hyperbilirubinemia
    • Gilbert's disease
    • Gilbert's syndrome
    • Gilbert-Meulengracht syndrome
    • hereditary nonhemolytic jaundice
Rattus norvegicus (Norway rat)
DOID:11151
  • cholecystolithiasis
Rattus norvegicus (Norway rat)
DOID:10211
  • cholelithiasis
Rattus norvegicus (Norway rat)
DOID:2741
  • bilirubin metabolic disorder
  • Aliases:
    • hereditary hyperbilirubinemia
    • hyperbilirubinemia
Mus musculus (house mouse)
DOID:3803
  • Crigler-Najjar syndrome
  • Aliases:
    • Bilirubin UDP glucuronyl transferase deficiency
    • Crigler Najjar syndrome
    • Crigler-Najjar syndrome, type I
Mus musculus (house mouse)
DOID:10211
  • cholelithiasis
Mus musculus (house mouse)
DOID:2739
  • Gilbert syndrome
  • Aliases:
    • Constitutional hyperbilirubinemia
    • Gilbert's disease
    • Gilbert's syndrome
    • Gilbert-Meulengracht syndrome
    • hereditary nonhemolytic jaundice
Mus musculus (house mouse)
DOID:8692
  • myeloid leukemia
  • Aliases:
    • Non-Lymphocytic Leukemia
    • leukaemia myelogenous
    • leukemia myelogenous
    • myeloid granulocytic leukaemia
    • myeloid granulocytic leukemia
    • myeloid leukaemia
Mus musculus (house mouse)
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Last updated: August 19, 2024