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 July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 5476 - 5500 of 7942 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:3329
  • benign epilepsy with centrotemporal spikes
  • Aliases:
    • BCECTS
    • benign Rolandic epilepsy
    • benign childhood epilepsy with centrotemporal spike
    • rolandic epilepsy
    • sylvan seizures
Homo sapiens (human)
DOID:10587
  • Krabbe disease
  • Aliases:
    • Diffuse globoid body sclerosis
    • GLOBOID CELL LEUKOENCEPHALOPATHY
    • Galactosylceramide beta-galactosidase deficiency
    • Krabbe's disease
    • Krabbe's leukodystrophy
    • beta galactocerebrosidase deficiency
    • globoid cell leukodystrophy
Homo sapiens (human)
DOID:1927
  • sphingolipidosis
  • Aliases:
    • sphingolipidoses
Homo sapiens (human)
DOID:0060162
  • dentatorubral-pallidoluysian atrophy
  • Aliases:
    • DRPLA
    • Haw River Syndrome
    • Naito-Oyanagi disease
Homo sapiens (human)
DOID:891
  • progressive myoclonus epilepsy
  • Aliases:
    • PME
    • progressive myoclonic epilepsy
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0050441
  • mucosulfatidosis
  • Aliases:
    • Sulfatidosis, Juvenile, Austin Type
    • multiple sulfatase deficiency disease
Homo sapiens (human)
DOID:14755
  • argininosuccinic aciduria
  • Aliases:
    • Argininosuccinate lyase deficiency
    • argininosuccinic acidemia
    • arginosuccinase deficiency
    • deficiency of argininosuccinate lyase
Homo sapiens (human)
DOID:12556
  • acute kidney tubular necrosis
  • Aliases:
    • ATN - acute tubular necrosis
    • acute renal Failure with tubular necrosis
    • acute renal failure with lesion of tubular necrosis
    • acute tubular necrosis
    • acute tubule necrosis
Homo sapiens (human)
DOID:10581
  • metachromatic leukodystrophy
  • Aliases:
    • MLD
    • Scholz cerebral sclerosis
    • arylsulfatase A deficiency
    • deficiency of cerebroside-sulfatase
    • sulfatide lipoidosis
Homo sapiens (human)
DOID:0060350
  • adenine phosphoribosyltransferase deficiency
  • Aliases:
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
Saccharomyces cerevisiae S288C
DOID:0050437
  • Danon disease
  • Aliases:
    • ANTOPOL DISEASE
    • PSEUDOGLYCOGENOSIS II
Homo sapiens (human)
DOID:0060280
  • primary pigmented nodular adrenocortical disease
Homo sapiens (human)
DOID:4306
  • radiculopathy
  • Aliases:
    • pinched nerve
Homo sapiens (human)
DOID:6576
  • childhood optic nerve glioma
  • Aliases:
    • glioma of the pediatric visual pathway
Homo sapiens (human)
DOID:4992
  • optic nerve glioma
  • Aliases:
    • glioma of the optic nerve
Homo sapiens (human)
DOID:1919
  • Lesch-Nyhan syndrome
  • Aliases:
    • Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
    • HG-PRT deficiency
    • Hypoxanthine-guanine phosphoribosyltransferase deficiency
    • Hypoxanthine-guanine-phosphoribosyltransferase deficiency
    • Lesch - Nyhan syndrome
    • X-linked hyperuricemia
    • deficiency of IMP pyrophosphorylase
    • hypoxanthine guanine phosphoribosyltransferase deficiency
Homo sapiens (human)
DOID:653
  • purine-pyrimidine metabolic disorder
  • Aliases:
    • inborn errors of purine-pyrimidine metabolism
Homo sapiens (human)
DOID:0060160
  • childhood spinal muscular atrophy
  • Aliases:
    • spinal muscular atrophies of childhood
    • survival motor neuron spinal muscular atrophy
Homo sapiens (human)
DOID:12376
  • juvenile spinal muscular atrophy
  • Aliases:
    • Kugelberg-Welander disease
    • SMA3
    • Spinal Muscular Atrophy Type 3
    • Type III Spinal Muscular Atrophy
Homo sapiens (human)
DOID:13137
  • Werdnig-Hoffmann disease
  • Aliases:
    • HMN (Hereditary motor Neuropathy) Proximal type I
    • SMA1
    • Spinal muscular atrophy 1
    • hereditary motor neuropathy proximal type I
    • infantile muscular atrophy
    • progressive muscular atrophy of infancy
Homo sapiens (human)
DOID:100
  • intestinal infectious disease
  • Aliases:
    • bacterial enteritis
Homo sapiens (human)
DOID:11721
  • glycogen storage disease VII
  • Aliases:
    • Glycogen storage disease 7
    • Glycogen storage disease, type VII
    • Muscle phosphofructokinase deficiency
    • glycogen storage disease type VII
    • phosphofructokinase myopathy
Homo sapiens (human)
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
Homo sapiens (human)
DOID:2754
  • glycogen storage disease VI
  • Aliases:
    • Glycogen storage disease 6
    • Hers' disease
    • glycogen storage disease type VI
    • hepatic glycogen phosphorylase deficiency
    • hepatophosphorylase deficiency glycogenosis
Homo sapiens (human)

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Last updated: August 19, 2024