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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 6976 - 7000 of 15957 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111066
  • congenital bile acid synthesis defect 5
  • Aliases:
    • CBAS5
Rattus norvegicus (Norway rat)
DOID:0111066
  • congenital bile acid synthesis defect 5
  • Aliases:
    • CBAS5
Saccharomyces cerevisiae S288C
DOID:0111066
  • congenital bile acid synthesis defect 5
  • Aliases:
    • CBAS5
Mus musculus (house mouse)
DOID:0111067
  • congenital bile acid synthesis defect 6
  • Aliases:
    • CBAS6
Saccharomyces cerevisiae S288C
DOID:0111067
  • congenital bile acid synthesis defect 6
  • Aliases:
    • CBAS6
Mus musculus (house mouse)
DOID:0111067
  • congenital bile acid synthesis defect 6
  • Aliases:
    • CBAS6
Homo sapiens (human)
DOID:0111068
  • congenital bile acid synthesis defect 4
  • Aliases:
    • CBAS4
    • intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid
    • trihydroxycoprostanic acid in bile
Homo sapiens (human)
DOID:0111069
  • congenital bile acid synthesis defect 2
  • Aliases:
    • CBAS2
    • cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Homo sapiens (human)
DOID:0111069
  • congenital bile acid synthesis defect 2
  • Aliases:
    • CBAS2
    • cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Saccharomyces cerevisiae S288C
DOID:0111070
  • congenital bile acid synthesis defect 3
  • Aliases:
    • CBAS3
    • oxysterol 7-alpha-hydroxylase deficiency
Homo sapiens (human)
DOID:0111071
  • congenital bile acid synthesis defect 1
  • Aliases:
    • CBAS1
Homo sapiens (human)
DOID:0111072
  • myostatin-related muscle hypertrophy
  • Aliases:
    • MSLHP
Rattus norvegicus (Norway rat)
DOID:0111072
  • myostatin-related muscle hypertrophy
  • Aliases:
    • MSLHP
Homo sapiens (human)
DOID:0111072
  • myostatin-related muscle hypertrophy
  • Aliases:
    • MSLHP
Danio rerio (zebrafish)
DOID:0111072
  • myostatin-related muscle hypertrophy
  • Aliases:
    • MSLHP
Mus musculus (house mouse)
DOID:0111072
  • myostatin-related muscle hypertrophy
  • Aliases:
    • MSLHP
Caenorhabditis elegans
DOID:0111074
  • progressive familial heart block type IA
  • Aliases:
    • PFHB1A
Drosophila melanogaster (fruit fly)
DOID:0111074
  • progressive familial heart block type IA
  • Aliases:
    • PFHB1A
Homo sapiens (human)
DOID:0111074
  • progressive familial heart block type IA
  • Aliases:
    • PFHB1A
Rattus norvegicus (Norway rat)
DOID:0111074
  • progressive familial heart block type IA
  • Aliases:
    • PFHB1A
Mus musculus (house mouse)
DOID:0111076
  • progressive familial heart block type IB
  • Aliases:
    • PFHB1B
Mus musculus (house mouse)
DOID:0111076
  • progressive familial heart block type IB
  • Aliases:
    • PFHB1B
Homo sapiens (human)
DOID:0111077
  • pyruvate kinase deficiency of red cells
  • Aliases:
    • PK deficiency
    • hemolytic anemia due to red cell pyruvate kinase deficiency
    • pyruvate kinase deficiency of erythrocyte
Drosophila melanogaster (fruit fly)
DOID:0111077
  • pyruvate kinase deficiency of red cells
  • Aliases:
    • PK deficiency
    • hemolytic anemia due to red cell pyruvate kinase deficiency
    • pyruvate kinase deficiency of erythrocyte
Rattus norvegicus (Norway rat)
DOID:0111077
  • pyruvate kinase deficiency of red cells
  • Aliases:
    • PK deficiency
    • hemolytic anemia due to red cell pyruvate kinase deficiency
    • pyruvate kinase deficiency of erythrocyte
Saccharomyces cerevisiae S288C
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024