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 4276 - 4300 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0111389
  • mucopolysaccharidosis Ih/s
  • Aliases:
    • MPS1H/S
    • MPSIH/S
    • Mucopolysaccharidosis type 1H/S
Homo sapiens (human)
DOID:4500
  • hypokalemia
  • Aliases:
    • hypopotassemia
    • potassium deficiency disorder
Homo sapiens (human)
DOID:0110737
  • neurodegeneration with brain iron accumulation 3
  • Aliases:
    • Adult basal ganglia disease
    • Ferritin-related neurodegeneration
    • Hereditary ferritinopathy
    • NBIA3
    • Neuroferritinopathy
    • Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset
Homo sapiens (human)
DOID:12143
  • neurogenic bladder
  • Aliases:
    • Neuropathic bladder
    • neurogenic dysfunction of the urinary bladder
    • neurogenic urinary bladder disorder
Homo sapiens (human)
DOID:0070436
  • hyperphosphatasia with impaired intellectual development syndrome 4
  • Aliases:
    • GPIBD62
    • HPMRS6
    • glycosylphosphatidylinositol biosynthesis defect 62
    • hyperphosphatasia with mental retardation syndrome 6
Homo sapiens (human)
DOID:0110436
  • dilated cardiomyopathy 1L
  • Aliases:
    • CMD1L
Homo sapiens (human)
DOID:1793
  • pancreatic cancer
  • Aliases:
    • Ca body of pancreas
    • Ca head of pancreas
    • Ca tail of pancreas
    • malignant neoplasm of body of pancreas
    • malignant neoplasm of head of pancreas
    • malignant neoplasm of tail of pancreas
    • pancreas neoplasm
    • pancreatic neoplasm
    • pancreatic tumor
Homo sapiens (human)
DOID:0080558
  • congenital disorder of glycosylation If
  • Aliases:
    • congenital disorder of glycosylation 1f
Homo sapiens (human)
DOID:8501
  • fundus dystrophy
  • Aliases:
    • Retinal Dystrophy
Homo sapiens (human)
DOID:4606
  • bile duct cancer
  • Aliases:
    • Ca extrahepatic bile ducts
    • bile duct tumor
    • malignant neoplasm of the extrahepatic bile duct
Homo sapiens (human)
DOID:0111773
  • 46,XY sex reversal 8
  • Aliases:
    • SRXY8
    • TDD
    • male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
Homo sapiens (human)
DOID:12400
  • kleptomania
  • Aliases:
    • Pathological stealing
Homo sapiens (human)
DOID:11843
  • coronary artery anomaly
  • Aliases:
    • Congenital anomaly of coronary artery
    • Coronary artery abnormality
    • Coronary artery anomaly, congenital
Homo sapiens (human)
DOID:5479
  • papillary adenofibroma
Homo sapiens (human)
DOID:4450
  • renal cell carcinoma
  • Aliases:
    • RCC
    • adenocarcinoma of kidney
    • hypernephroma
Homo sapiens (human)
DOID:0110030
  • alpha thalassemia-X-linked intellectual disability syndrome
  • Aliases:
    • ATR, nondeletion type
    • ATR-X syndrome
    • alpha-thalassemia/mental retardation syndrome nondeletion type
Homo sapiens (human)
DOID:5418
  • schizoaffective disorder
Homo sapiens (human)
DOID:0110409
  • retinitis pigmentosa 46
  • Aliases:
    • RP46
Homo sapiens (human)
DOID:3146
  • lipid metabolism disorder
  • Aliases:
    • dyslipidemia
    • fatty acid metabolism disorder
Homo sapiens (human)
DOID:3029
  • colon mucinous adenocarcinoma
  • Aliases:
    • Colonic mucinous adenocarcinoma
Homo sapiens (human)
DOID:0110820
  • hereditary spastic paraplegia 75
  • Aliases:
    • SPG75
    • autosomal recessive spastic paraplegia 75
    • autosomal recessive spastic paraplegia type 75
Homo sapiens (human)
DOID:0110349
  • osteogenesis imperfecta type 9
  • Aliases:
    • OI9
    • osteogenesis imperfecta type IX
Homo sapiens (human)
DOID:0110870
  • congenital stationary night blindness 1A
  • Aliases:
    • CSNB1A
    • NBMI
    • complete CSNB X-linked
    • congenital stationary night blindness 1A X-linked
    • congenital stationary night blindness with myopia
    • hemeralopia-myopia
    • myopia-night blindness
Homo sapiens (human)
DOID:0110060
  • amelogenesis imperfecta hypomaturation type 2A2
  • Aliases:
    • AI2A2
    • amelogenesis imperfecta hypomaturation type IIA2
    • amelogenesis imperfecta pigmented hypomaturation type 2
    • amelogenesis imperfecta type IIA2
Homo sapiens (human)
DOID:0110914
  • infantile hypophosphatasia
  • Aliases:
    • Hops
    • phosphoethanolaminuria
Homo sapiens (human)

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Last updated: August 19, 2024