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 5351 - 5375 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0110223
  • Brugada syndrome 6
  • Aliases:
    • BRGDA6
Homo sapiens (human)
DOID:0090012
  • severe combined immunodeficiency with sensitivity to ionizing radiation
  • Aliases:
    • SCID due to DCLRE1C deficiency
    • SCID due to artemis deficiency
    • SCID, Athabascan type
    • SCID, Athabaskan type
    • Severe combined immunodeficiency due to DCLRE1C deficiency
    • Severe combined immunodeficiency due to artemis deficiency
    • Severe combined immunodeficiency, Athabascan type
    • Severe combined immunodeficiency, Athabaskan type
    • artemis deficiency
Homo sapiens (human)
DOID:0050558
  • Ullrich congenital muscular dystrophy
  • Aliases:
    • ULLRICH DISEASE
    • Ullrich scleroatonic muscular dystrophy
Homo sapiens (human)
DOID:636
  • central pontine myelinolysis
  • Aliases:
    • osmotic demyelination syndrome
Homo sapiens (human)
DOID:5940
  • malignant peripheral nerve sheath tumor
  • Aliases:
    • malignant neoplasm of the peripheral nerve Sheath
Homo sapiens (human)
DOID:0070450
  • mitochondrial DNA depletion syndrome 19
Homo sapiens (human)
DOID:0081366
  • Paget's disease of bone 3
  • Aliases:
    • Paget disease of bone-3
Homo sapiens (human)
DOID:0111359
  • large congenital melanocytic nevus
  • Aliases:
    • Congenital pigmented nevus
    • GMN
    • Giant congenital melanocytic nevus
    • Giant pigmented hairy nevus
    • LCMN
Homo sapiens (human)
DOID:2917
  • cryoglobulinemia
  • Aliases:
    • Cryoimmunoglobulinaemia
Homo sapiens (human)
DOID:0110146
  • Bartter disease type 4b
  • Aliases:
    • BARTS4B
    • Bartter syndrome, type 4b, digenic
    • neonatal Bartter syndrome type 4B with sensorineural deafness
Homo sapiens (human)
DOID:0081398
  • holoprosencephaly 12
  • Aliases:
    • holoprosencephaly-12 with or without pancreatic agenesis
Homo sapiens (human)
DOID:0111039
  • hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
  • Aliases:
    • hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
    • psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Homo sapiens (human)
DOID:12987
  • agranulocytosis
  • Aliases:
    • Granulocytopenic disorder
    • Granulopenia
    • granulocytopenia
Homo sapiens (human)
DOID:0080653
  • urolithiasis
Homo sapiens (human)
DOID:811
  • lipodystrophy
Homo sapiens (human)
DOID:13628
  • favism
Homo sapiens (human)
DOID:0050426
  • Stevens-Johnson syndrome
Homo sapiens (human)
DOID:0110896
  • inflammatory bowel disease 16
  • Aliases:
    • IBD16
Homo sapiens (human)
DOID:0080998
  • acute necrotizing pancreatitis
Homo sapiens (human)
DOID:0112081
  • nuclear type mitochondrial complex I deficiency 8
  • Aliases:
    • MC1DN8
Homo sapiens (human)
DOID:0111968
  • immunodeficiency 41
  • Aliases:
    • CD25 deficiency
    • IL2RA deficiency
    • IMD41
    • immunodeficiency 41 with lymphoproliferation and autoimmunity
    • immunodeficiency due to CD25 deficiency
    • interleukin-2 receptor alpha chain deficiency
Homo sapiens (human)
DOID:12271
  • aniridia
  • Aliases:
    • Aplasia of iris
    • isolated aniridia
Homo sapiens (human)
DOID:2326
  • gastroenteritis
  • Aliases:
    • cholera morbus
    • infectious colitis, enteritis and gastroenteritis
Homo sapiens (human)
DOID:0111279
  • psoriasis 7
  • Aliases:
    • PSORS7
Homo sapiens (human)
DOID:4371
  • Schnitzler syndrome
Homo sapiens (human)

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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