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 8901 - 8925 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:9651
  • systolic heart failure
Mus musculus (house mouse)
DOID:12700
  • hyperprolactinemia
  • Aliases:
    • Chiari-Frommel syndrome
    • Pregnancy-related A-G syndrome
    • hyperprolactinaemia
Mus musculus (house mouse)
DOID:0090130
  • cortical dysplasia-focal epilepsy syndrome
  • Aliases:
    • CDFE syndrome
    • CDFES
    • PTHSL1
    • Pitt-Hopkins-like syndrome-1
Mus musculus (house mouse)
DOID:8947
  • diabetic retinopathy
  • Aliases:
    • Retinal abnormality - diabetes-related
Mus musculus (house mouse)
DOID:0070221
  • progressive familial intrahepatic cholestasis
  • Aliases:
    • PFIC; Byler disease
Mus musculus (house mouse)
DOID:0111235
  • congenital muscular dystrophy-dystroglycanopathy type A12
  • Aliases:
    • MDDGA12
    • Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
Mus musculus (house mouse)
DOID:0110521
  • autosomal recessive nonsyndromic deafness 70
  • Aliases:
    • DFNB70
    • autosomal recessive deafness 70
Mus musculus (house mouse)
DOID:1701
  • steroid inherited metabolic disorder
Mus musculus (house mouse)
DOID:0111150
  • autosomal dominant isolated ectopia lentis 1
  • Aliases:
    • ECTOL1
Mus musculus (house mouse)
DOID:0111953
  • immunodeficiency 23
  • Aliases:
    • CID due to PGM3 deficiency
    • IMD23
    • PGM3-CDG
    • PGM3-related congenital disorder of glycosylation
    • combined immunodeficiency due to PGM3 deficiency
Mus musculus (house mouse)
DOID:0110736
  • neurodegeneration with brain iron accumulation 2b
  • Aliases:
    • NBIA2b
    • Neuroaxonal Dystrophy, Atypical
    • Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
Mus musculus (house mouse)
DOID:0110372
  • retinitis pigmentosa 4
  • Aliases:
    • RP4
Mus musculus (house mouse)
DOID:0081144
  • common variable immunodeficiency 1
Mus musculus (house mouse)
DOID:0111841
  • Shukla-Vernon syndrome
  • Aliases:
    • SHUVER
Mus musculus (house mouse)
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
Mus musculus (house mouse)
DOID:0060648
  • anterior segment dysgenesis
  • Aliases:
    • anterior segment developmental anomaly
    • corneal opacification and other ocular anomalies
    • sclerocornea with other ocular anomalies
Mus musculus (house mouse)
DOID:0111187
  • distal myopathy with anterior tibial onset
  • Aliases:
    • DMAT
    • distal muscular dystrophy with anterior tibial onset
Mus musculus (house mouse)
DOID:0090078
  • hypogonadotropic hypogonadism 7 with or without anosmia
Mus musculus (house mouse)
DOID:6612
  • leukocyte adhesion deficiency
  • Aliases:
    • Congenital leukocyte adherence deficiency
Mus musculus (house mouse)
DOID:13938
  • amenorrhea
  • Aliases:
    • absence of menstruation
    • amenia
Mus musculus (house mouse)
DOID:2106
  • myotonia congenita
  • Aliases:
    • Batten Turner congenital myopathy
    • Thomsen and Becker disease
Mus musculus (house mouse)
DOID:7305
  • astroblastoma
Mus musculus (house mouse)
DOID:2513
  • basal cell carcinoma
  • Aliases:
    • Basal cell cancer
    • Basal cell carcinoma of skin
    • Basal cell neoplasm
    • Basal cell tumor
    • Epithelioma basal cell
    • Rodent ulcer
    • malignant Basal cell neoplasm
    • malignant basal cell tumor
Mus musculus (house mouse)
DOID:0081219
  • autosomal recessive intellectual developmental disorder 57
Mus musculus (house mouse)
DOID:0080634
  • nanophthalmos
Mus musculus (house mouse)

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: December 9, 2024