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 7876 - 7900 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0111976
  • immunodeficiency 9
  • Aliases:
    • CID due to ORAI1 deficiency
    • IMD9
    • combined immunodeficiency due to ORAI1 deficiency
    • immune dysfunction with T-cell inactivation due to calcium entry defect 1
Mus musculus (house mouse)
DOID:0050963
  • spinocerebellar ataxia type 13
Mus musculus (house mouse)
DOID:0060180
  • colitis
Mus musculus (house mouse)
DOID:61
  • mitral valve disease
  • Aliases:
    • Mitral RH valve dis.
    • Rheumatic mitral insufficiency
    • Rheumatic mitral valve changes
    • Rheumatic mitral valve regurgitation
    • chronic rheumatic mitral valve
    • disease of mitral valve
    • rheumatic disease of mitral valve
    • rheumatic mitral valve incompetence
Mus musculus (house mouse)
DOID:4183
  • pseudopseudohypoparathyroidism
  • Aliases:
    • Normocalcemic pseudohypoparathyroidism
Mus musculus (house mouse)
DOID:2772
  • irritant dermatitis
  • Aliases:
    • irritant contact dermatitis
    • primary irritant dermatitis
Mus musculus (house mouse)
DOID:0111649
  • ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
  • Aliases:
    • EEM syndrome
    • EEMS
    • ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
Mus musculus (house mouse)
DOID:3981
  • pantothenate kinase-associated neurodegeneration
  • Aliases:
    • Hallervorden-Spatz disease
    • Hallervorden-Spatz syndrome
    • NBIA1
    • Pigmentary pallidal degeneration
    • brain Iron Accumulation type I syndrome
    • neurodegeneration with brain iron accumulation 1
Mus musculus (house mouse)
DOID:0110030
  • alpha thalassemia-X-linked intellectual disability syndrome
  • Aliases:
    • ATR, nondeletion type
    • ATR-X syndrome
    • alpha-thalassemia/mental retardation syndrome nondeletion type
Mus musculus (house mouse)
DOID:11263
  • chlamydia
  • Aliases:
    • Chlamydia trachomatis infectious disease
    • Chlamydial Infection
    • chlamydial disease
Mus musculus (house mouse)
DOID:0112245
  • focal segmental glomerulosclerosis 3
  • Aliases:
    • FSGS3
Mus musculus (house mouse)
DOID:0050693
  • Brooke-Spiegler syndrome
  • Aliases:
    • BRSS
    • BSS
    • CYLD cutaneous syndrome
    • SBS
    • Spiegler-Brooke Syndrome
Mus musculus (house mouse)
DOID:0112153
  • hypomyelinating leukodystrophy 20
  • Aliases:
    • HLD20
Mus musculus (house mouse)
DOID:0111119
  • nephronophthisis 12
  • Aliases:
    • NPHP12
Mus musculus (house mouse)
DOID:1686
  • glaucoma
Mus musculus (house mouse)
DOID:4175
  • Rh isoimmunization
  • Aliases:
    • Rh incompatibility affecting management of mother
Mus musculus (house mouse)
DOID:0060075
  • estrogen-receptor positive breast cancer
Mus musculus (house mouse)
DOID:0050933
  • ovarian serous carcinoma
Mus musculus (house mouse)
DOID:3144
  • cutis laxa
  • Aliases:
    • loose skin
Mus musculus (house mouse)
DOID:0050944
  • spastic ataxia 5
Mus musculus (house mouse)
DOID:0112074
  • nuclear type mitochondrial complex I deficiency 1
  • Aliases:
    • MC1DN1
Mus musculus (house mouse)
DOID:13774
  • Addison's disease
  • Aliases:
    • Addison disease
    • Addison disease, chronic adrenal insufficiency
    • HYPOADRENOCORTICISM, FAMILIAL
    • primary adrenocortical insufficiency
    • primary hypoadrenalism
Mus musculus (house mouse)
DOID:3393
  • coronary artery disease
  • Aliases:
    • CHD
    • Coronary disease
    • coronary arteriosclerosis
    • coronary heart disease
Mus musculus (house mouse)
DOID:2490
  • congenital nervous system abnormality
  • Aliases:
    • congenital neurologic anomaly
Mus musculus (house mouse)
DOID:0080443
  • developmental and epileptic encephalopathy 21
  • Aliases:
    • DEE21
    • early infantile epileptic encephalopathy 21
Mus musculus (house mouse)

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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