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 6701 - 6725 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:13399
  • color blindness
  • Aliases:
    • BLINDNESS COLOR
    • Colour blindness
    • Colour vision deficiency
Mus musculus (house mouse)
DOID:3963
  • thyroid gland carcinoma
  • Aliases:
    • head and neck cancer, Thyroid
Mus musculus (house mouse)
DOID:0080589
  • Klippel-Feil syndrome 1
Mus musculus (house mouse)
DOID:0110011
  • advanced sleep phase syndrome 1
  • Aliases:
    • FASPS1
    • familial advanced sleep phase syndrome 1
Mus musculus (house mouse)
DOID:0070351
  • spinal muscular atrophy with lower extremity predominant 1
  • Aliases:
    • spinal muscular atrophy with lower extremity predominance 1
Mus musculus (house mouse)
DOID:12971
  • hereditary spherocytosis
  • Aliases:
    • Congenital spherocytic hemolytic anemia
    • Minkowski Chauffard syndrome
    • spherocytic anemia
Mus musculus (house mouse)
DOID:9074
  • systemic lupus erythematosus
  • Aliases:
    • Lupus Erythematosus, systemic
    • SLE - Lupus Erythematosus, systemic
    • disseminated lupus erythematosus
Mus musculus (house mouse)
DOID:0111579
  • asthma, nasal polyps, and aspirin intolerance
  • Aliases:
    • ASA triad
Mus musculus (house mouse)
DOID:0070233
  • Loeys-Dietz syndrome 4
  • Aliases:
    • Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations
    • LDS4
Mus musculus (house mouse)
DOID:0080564
  • congenital disorder of glycosylation Il
  • Aliases:
    • congenital disorder of glycosylation 1l
Mus musculus (house mouse)
DOID:8411
  • kidney angiomyolipoma
  • Aliases:
    • Angiomyolipoma of kidney
    • renal Angiomyolipoma
Mus musculus (house mouse)
DOID:10230
  • aortic atherosclerosis
  • Aliases:
    • Atherosclerosis of aorta
Mus musculus (house mouse)
DOID:0050912
  • colon adenoma
Mus musculus (house mouse)
DOID:0050877
  • pancreatic agenesis
  • Aliases:
    • Agenesis of the dorsal pancreas
    • partial pancreatic agenesis
Mus musculus (house mouse)
DOID:0081301
  • intellectual developmental disorder with ocular anomalies and distinctive facial features
  • Aliases:
    • IDDOF
    • MTSS2-related neurodevelopmental disorder
Mus musculus (house mouse)
DOID:0111180
  • French Canadian Leigh disease
  • Aliases:
    • French Canadian type COX deficiency
    • French Canadian type Leigh syndrome
    • French Canadian type cytochrome c oxidase deficiency
    • Saguenay Lac saint Jean type COX deficiency
    • Saguenay Lac saint Jean type Leigh syndrome
    • mitochondrial complex IV deficiency nuclear type 5
Mus musculus (house mouse)
DOID:2361
  • macrocytic anemia
  • Aliases:
    • ANEMIA MACROCYTIC
    • Macrocytic anaemia
Mus musculus (house mouse)
DOID:0111862
  • congenital bilateral absence of vas deferens
  • Aliases:
    • CAVD
    • CBAVD
    • congenital bilateral agenesis of vas deferens
    • congenital bilateral aplasia of vas deferens
Mus musculus (house mouse)
DOID:12918
  • thromboangiitis obliterans
  • Aliases:
    • Buerger's disease
    • Presenile gangrene
Mus musculus (house mouse)
DOID:0110771
  • hereditary spastic paraplegia 18
  • Aliases:
    • IDMDC
    • SPG18
    • autosomal recessive spastic paraplegia 18
    • autosomal recessive spastic paraplegia type 18
    • intellectual disability, motor dysfunction and joint contractures
Mus musculus (house mouse)
DOID:0111666
  • proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
  • Aliases:
    • EPV
    • Fowler syndrome
    • Fowler vasculopathy
    • PVHH
    • cerebral proliferative glomeruloid vasculopathy
    • encephaloclastic proliferative vasculopathy
    • hydranencephaly, Fowler type
    • hydrocephaly/hydranencephaly due to cerebral vasculopathy
    • proliferative vasculopathy and hydranencephaly/hydrocephaly
Mus musculus (house mouse)
DOID:0080202
  • adenoid cystic carcinoma
Mus musculus (house mouse)
DOID:0080108
  • myoglobinuria
Mus musculus (house mouse)
DOID:0060387
  • chondrodysplasia Blomstrand type
  • Aliases:
    • Blomstrand lethal chondrodysplasia
Mus musculus (house mouse)
DOID:0111742
  • cerebellar ataxia type 42
  • Aliases:
    • SCA42
Mus musculus (house mouse)

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Last updated: December 9, 2024