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 2426 - 2450 of 4621 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:14755
  • argininosuccinic aciduria
  • Aliases:
    • Argininosuccinate lyase deficiency
    • argininosuccinic acidemia
    • arginosuccinase deficiency
    • deficiency of argininosuccinate lyase
Homo sapiens (human)
DOID:0050441
  • mucosulfatidosis
  • Aliases:
    • Sulfatidosis, Juvenile, Austin Type
    • multiple sulfatase deficiency disease
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:891
  • progressive myoclonus epilepsy
  • Aliases:
    • PME
    • progressive myoclonic epilepsy
Homo sapiens (human)
DOID:0060162
  • dentatorubral-pallidoluysian atrophy
  • Aliases:
    • DRPLA
    • Haw River Syndrome
    • Naito-Oyanagi disease
Homo sapiens (human)
DOID:1927
  • sphingolipidosis
  • Aliases:
    • sphingolipidoses
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: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:0111452
  • progressive myoclonus epilepsy 1A
  • Aliases:
    • EPM1A
Homo sapiens (human)
DOID:3192
  • neurilemmoma
  • Aliases:
    • Psammomatous schwannoma
    • schwannoma
Homo sapiens (human)
DOID:3206
  • plexiform schwannoma
  • Aliases:
    • Plexiform Neurinoma
    • Plexiform neurilemmoma
Homo sapiens (human)
DOID:3205
  • melanotic neurilemmoma
  • Aliases:
    • Melanotic Schwannoma
    • Pigmented Neurilemmoma
    • Pigmented schwannoma
Homo sapiens (human)
DOID:3196
  • cellular schwannoma
  • Aliases:
    • cellular Neurinoma
Homo sapiens (human)
DOID:5940
  • malignant peripheral nerve sheath tumor
  • Aliases:
    • malignant neoplasm of the peripheral nerve Sheath
Homo sapiens (human)
DOID:14504
  • Niemann-Pick disease
  • Aliases:
    • Sphingomyelinase Deficiency Disease
    • lipoid histiocytosis
    • sphingomyelin lipidosis
Homo sapiens (human)
DOID:3890
  • acute intermittent porphyria
  • Aliases:
    • AIP - acute intermittent porphyria
    • Pyrroloporphyria
    • porphyria intermittent acute
Homo sapiens (human)
DOID:3557
  • superior mesenteric artery syndrome
  • Aliases:
    • Wilkie's syndrome
Homo sapiens (human)
DOID:3213
  • demyelinating disease
  • Aliases:
    • demyelinating disorder
Homo sapiens (human)
DOID:5602
  • T-cell adult acute lymphocytic leukemia
  • Aliases:
    • ATLL
    • Acute Adult T-cell Leukemia-Lymphoma
    • adult Precursor T Lymphoblastic Leukemia
Homo sapiens (human)
DOID:0080145
  • childhood T-cell acute lymphoblastic leukemia
  • Aliases:
    • T-cell childhood acute lymphocytic leukemia
    • childhood precursor T-lymphoblastic lymphoma/leukemia
Homo sapiens (human)
DOID:3322
  • GM1 gangliosidosis
  • Aliases:
    • Beta-galactosidase deficiency
    • deficiency of beta-galactosidase
    • gangliosidosis GM1
Homo sapiens (human)
DOID:0080502
  • GM1 gangliosidosis type 1
Homo sapiens (human)
DOID:7475
  • diverticulitis
Homo sapiens (human)
DOID:0110938
  • autosomal dominant osteopetrosis 2
  • Aliases:
    • Albers-Schonberg osteopetrosis
    • OPTA2
    • autosomal dominant Albers-Schonberg disease
    • autosomal dominant osteopetrosis type II
    • osteopetrosis autosomal dominant type 2
Homo sapiens (human)
DOID:11198
  • DiGeorge syndrome
  • Aliases:
    • 22q11.2 deletion syndrome
    • DiGeorge sequence
    • DiGeorge's syndrome
    • Pharyngeal pouch syndrome
Homo sapiens (human)

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Last updated: August 19, 2024