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 14826 - 14850 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0111776
  • 46,XY sex reversal 5
  • Aliases:
    • 46,XY gonadal dysgenesis, complete, CBX2-related
    • 46,XY sex reversal, CBX2-related
    • SRXY5
    • disorder of sex development, 46,XY, CBX2-related
    • sex reversal, XY, CBX2-related
Homo sapiens (human)
DOID:0111434
  • optic atrophy 10
  • Aliases:
    • OPA10
    • optic atrophy 10 with or without ataxia, mental retardation, and seizures
Homo sapiens (human)
DOID:0080299
  • partial lipodystrophy
Homo sapiens (human)
DOID:0111450
  • progressive myoclonus epilepsy 9
  • Aliases:
    • EMP9
    • PME type 9
    • progressive myoclonic epilepsy due to LMNB2 deficiency
    • progressive myoclonus epilepsy type 9
Homo sapiens (human)
DOID:0112346
  • hereditary spastic paraplegia 83
  • Aliases:
    • SPG83
    • spastic paraplegia 83 autosomal recessive
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0080686
  • tubular aggregate myopathy 2
Homo sapiens (human)
DOID:0070277
  • primary autosomal recessive microcephaly 15
  • Aliases:
    • MCPH15
    • NEDMISBA
    • neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
Homo sapiens (human)
DOID:0111231
  • congenital muscular dystrophy-dystroglycanopathy type A8
  • Aliases:
    • MDDGA8
    • Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
Homo sapiens (human)
DOID:0112382
  • muscular dystrophy-dystroglycanopathy type C8
  • Aliases:
    • LGMDR24
    • MDDGC2
    • autosomal recessive limb-girdle muscular dystrophy 24
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
    • muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
Homo sapiens (human)
DOID:0081225
  • autosomal recessive intellectual developmental disorder 64
Homo sapiens (human)
DOID:0080581
  • hyperekplexia 4
Homo sapiens (human)
DOID:0081177
  • autosomal recessive intellectual developmental disorder 1
Homo sapiens (human)
DOID:0111722
  • amelogenesis imperfecta type 3C
  • Aliases:
    • AI3C
    • amelogenesis imperfecta type IIIC
    • autosomal recessive amelogenesis imperfecta hypocalcification type
Homo sapiens (human)
DOID:0070437
  • hyperphosphatasia with impaired intellectual development syndrome 6
  • Aliases:
    • GPIBD40
    • HPMRS4
    • glycosylphosphatidylinositol biosynthesis defect 40
    • hyperphosphatasia with mental retardation syndrome 4
Homo sapiens (human)
DOID:0081276
  • cerebellar atrophy, visual impairment, and psychomotor retardation
  • Aliases:
    • CAVIPMR
Saccharomyces cerevisiae S288C
DOID:10155
  • intestinal cancer
  • Aliases:
    • malignant intestinal tumors
    • malignant neoplasm of intestine
Saccharomyces cerevisiae S288C
DOID:6432
  • pulmonary hypertension
Saccharomyces cerevisiae S288C
DOID:5082
  • liver cirrhosis
  • Aliases:
    • Cirrhosis
    • cirrhosis of liver
Saccharomyces cerevisiae S288C
DOID:2055
  • post-traumatic stress disorder
  • Aliases:
    • PTSD
    • traumatic neurosis
Saccharomyces cerevisiae S288C
DOID:11088
  • asphyxia neonatorum
  • Aliases:
    • Asphyxia - birth
    • Asphyxia, in liveborn infant
    • Birth asphyxia
    • postnatal asphyxia
Saccharomyces cerevisiae S288C
DOID:9778
  • irritable bowel syndrome
  • Aliases:
    • IBD
    • Irritable colon
Saccharomyces cerevisiae S288C
DOID:0060438
  • Cole-Carpenter syndrome
Saccharomyces cerevisiae S288C
DOID:2048
  • autoimmune hepatitis
  • Aliases:
    • Autoimmune chronic active hepatitis
    • autoimmune hepatitis with centrilobular necrosis
Saccharomyces cerevisiae S288C
DOID:9352
  • type 2 diabetes mellitus
  • Aliases:
    • NIDDM
    • insulin resistance
    • non-insulin-dependent diabetes mellitus
    • type 2 diabetes
    • type II diabetes mellitus
Saccharomyces cerevisiae S288C

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Last updated: December 9, 2024