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 6576 - 6600 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0050700
  • cardiomyopathy
  • Aliases:
    • Cardiomyopathies
Saccharomyces cerevisiae S288C
DOID:3883
  • Lynch syndrome
  • Aliases:
    • COCA 1
    • HNPCC - hereditary nonpolyposis colon cancer
    • Hereditary Defective Mismatch Repair syndrome
    • Hereditary non-polyposis colon cancer
    • Hereditary non-polyposis colon cancer syndrome
    • Hereditary non-polyposis colorectal cancer
    • Hereditary non-polyposis colorectal cancer syndrome
    • Hereditary nonpolyposis colon cancer
    • Hereditary nonpolyposis colon cancer syndrome
    • Hereditary nonpolyposis colorectal cancer syndrome
    • hereditary nonpolyposis colorectal cancer
    • hereditary nonpolyposis colorectal neoplasm
Saccharomyces cerevisiae S288C
DOID:0112182
  • mismatch repair cancer syndrome
  • Aliases:
    • BTP1 syndrome
    • BTPS1
    • CMMR-D syndrome
    • CMMRDS
    • MMR deficiency
    • Turcot syndrome
    • brain tumor-polyposis syndrome 1
    • childhood cancer syndrome
    • constitutional mismatch repair deficiency syndrome
Saccharomyces cerevisiae S288C
DOID:1852
  • intrahepatic cholestasis
  • Aliases:
    • neonatal intrahepatic cholestasis
Saccharomyces cerevisiae S288C
DOID:13619
  • extrahepatic cholestasis
  • Aliases:
    • extrahepatic biliary Stasis
    • extrahepatic obstructive biliary disease
Saccharomyces cerevisiae S288C
DOID:14365
  • systemic primary carnitine deficiency disease
  • Aliases:
    • carnitine transporter deficiency
    • carnitine uptake defect
    • deficiency of plasma-membrane carnitine transporter
    • primary carnitine deficiency
    • renal carnitine transport defect
Saccharomyces cerevisiae S288C
DOID:655
  • inherited metabolic disorder
  • Aliases:
    • Inborn Errors of Metabolism
    • Metabolic hereditary disorder
    • inborn metabolism disorder
Saccharomyces cerevisiae S288C
DOID:0060787
  • hypomyelinating leukodystrophy 2
  • Aliases:
    • HLD2
    • PMLD1
    • Pelizaeus-Merzbacher-like disease 1
    • Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Homo sapiens (human)
DOID:0070208
  • hereditary lymphedema IC
  • Aliases:
    • LMPH1C
Homo sapiens (human)
DOID:0110796
  • hereditary spastic paraplegia 44
  • Aliases:
    • SPG44
    • autosomal recessive spastic paraplegia 44
Homo sapiens (human)
DOID:0060363
  • glycerol kinase deficiency
Homo sapiens (human)
DOID:0080489
  • GM1 gangliosidosis type 3
  • Aliases:
    • adult-onset GM1 gangliosidosis
Homo sapiens (human)
DOID:0080502
  • GM1 gangliosidosis type 1
Homo sapiens (human)
DOID:3322
  • GM1 gangliosidosis
  • Aliases:
    • Beta-galactosidase deficiency
    • deficiency of beta-galactosidase
    • gangliosidosis GM1
Homo sapiens (human)
DOID:0080501
  • GM1 gangliosidosis type 2
  • Aliases:
    • juvenile GM1 gangliosidosis
Homo sapiens (human)
DOID:2957
  • pulmonary tuberculosis
Saccharomyces cerevisiae S288C
DOID:2750
  • glycogen storage disease IV
  • Aliases:
    • Amylopectinosis
    • Branching-transferase deficiency glycogenosis
    • Glycogen storage disease 4
    • Glycogen storage disease, type IV
    • brancher deficiency glycogenosis
    • deficiency of 1,4-alpha-glucan branching enzyme
Saccharomyces cerevisiae S288C
DOID:13268
  • porphyria
  • Aliases:
    • Hematoporphyria
    • Porphyrinopathy
    • disorder of porphyrin and hem metabolism
    • disorder of porphyrin metabolism
Saccharomyces cerevisiae S288C
DOID:0080693
  • Noonan syndrome-like disorder with loose anagen hair 2
Saccharomyces cerevisiae S288C
DOID:0060559
  • lethal congenital contracture syndrome 1
  • Aliases:
    • LCCS1
    • multiple contracture syndrome, Finnish type
Saccharomyces cerevisiae S288C
DOID:0050579
  • glycogen storage disease XV
  • Aliases:
    • Glycogen storage disease 15
    • Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
    • glycogen storage disease type XV
Saccharomyces cerevisiae S288C
DOID:2747
  • glycogen storage disease
  • Aliases:
    • glycogenosis
Saccharomyces cerevisiae S288C
DOID:2512
  • nevoid basal cell carcinoma syndrome
  • Aliases:
    • Gorlin syndrome
    • NBCCS
    • basal cell nevus syndrome
Homo sapiens (human)
DOID:6595
  • gastric tubular adenocarcinoma
  • Aliases:
    • tubular adenocarcinoma of stomach
Homo sapiens (human)
DOID:5593
  • gastric papillary adenocarcinoma
  • Aliases:
    • Papillary adenocarcinoma of stomach
Homo sapiens (human)

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Last updated: December 9, 2024