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 9576 - 9600 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:11121
  • pulpitis
  • Aliases:
    • pulp stones
Mus musculus (house mouse)
DOID:0081356
  • spinal muscular atrophy, Jokela type
Mus musculus (house mouse)
DOID:0080631
  • Elsahy-Waters syndrome
  • Aliases:
    • branchioskeletogenital syndrome
Mus musculus (house mouse)
DOID:1024
  • leprosy
Mus musculus (house mouse)
DOID:0081401
  • autosomal dominant distal hereditary motor neuronopathy 13
Mus musculus (house mouse)
DOID:0111386
  • inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
  • Aliases:
    • IBMPFD3
    • MSP3
    • multisystem proteinopathy 3
Mus musculus (house mouse)
DOID:0111558
  • Charcot-Marie-Tooth disease type 2DD
  • Aliases:
    • ATP1A1-related CMT2
    • ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
    • CMT2DD
    • Charcot-Marie-Tooth disease, axonal, type 2DD
    • Charcot-Marie-Tooth neuropathy, type 2DD
Mus musculus (house mouse)
DOID:0111503
  • Li-Fraumeni syndrome 1
  • Aliases:
    • LFS1
Mus musculus (house mouse)
DOID:0050962
  • spinocerebellar ataxia type 12
Mus musculus (house mouse)
DOID:0070072
  • autosomal dominant intellectual developmental disorder 42
  • Aliases:
    • MRD42
    • autosomal dominant mental retardation 42
    • autosomal dominant non-syndromic intellectual disability 42
Mus musculus (house mouse)
DOID:1148
  • polydactyly
  • Aliases:
    • postaxial polydactyly
Mus musculus (house mouse)
DOID:0080991
  • congenital myopathy 1B
  • Aliases:
    • multiminicore disease
Mus musculus (house mouse)
DOID:0111990
  • immunodeficiency 30
  • Aliases:
    • IMD30
    • MSMD due to complete IL12RB1 deficiency
    • MSMD due to complete interleukin 12 receptor beta 1 deficiency
    • Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Mus musculus (house mouse)
DOID:0111739
  • X-linked deafness 1
  • Aliases:
    • DFN2
    • DFNX1
    • X-linked sensorineural congenital deafness 2
Mus musculus (house mouse)
DOID:0111029
  • hemochromatosis type 1
  • Aliases:
    • HFE1
    • symptomatic form of HFE-related hereditary hemochromatosis
    • symptomatic form of classic hemochromatosis
    • symptomatic form of hemochromatosis type 1
Mus musculus (house mouse)
DOID:2679
  • dysembryoplastic neuroepithelial tumor
  • Aliases:
    • Dysembryoplastic Neuroepithelial neoplasm
    • dysembryoplastic neuroepithelial tumour
Mus musculus (house mouse)
DOID:1787
  • pericarditis
Mus musculus (house mouse)
DOID:2129
  • atypical teratoid rhabdoid tumor
  • Aliases:
    • Atypical teratoid/rhabdoid tumor
    • Atypical teratoid/rhabdoid tumour
    • Rhabdoid tumor of the CNS
    • Rhabdoid tumour of the CNS
    • atypical teratoid rhabdoid tumour
Mus musculus (house mouse)
DOID:628
  • combined T cell and B cell immunodeficiency
  • Aliases:
    • Congenital Combined Immunodeficiency
Mus musculus (house mouse)
DOID:0060350
  • adenine phosphoribosyltransferase deficiency
  • Aliases:
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
Mus musculus (house mouse)
DOID:1002
  • endometritis
Mus musculus (house mouse)
DOID:0080621
  • glucocorticoid deficiency 1
Mus musculus (house mouse)
DOID:0080226
  • autosomal dominant intellectual developmental disorder 56
  • Aliases:
    • autosomal dominant intellectual developmental disorder-56
    • autosomal dominant mental retardation 56
Mus musculus (house mouse)
DOID:0060284
  • paroxysmal nocturnal hemoglobinuria
Mus musculus (house mouse)
DOID:0110476
  • autosomal recessive nonsyndromic deafness 1B
  • Aliases:
    • DFNB1B
    • autosomal recessive deafness 1B
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