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 11626 - 11650 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0080685
  • aortic dissection
Mus musculus (house mouse)
DOID:0060811
  • syndromic X-linked intellectual disability Turner type
  • Aliases:
    • Brooks-Wisniewski-Brown syndrome
    • MRXST
    • X-linked intellectual disability, Brooks type
    • mental retardation and macrocephaly syndrome
    • mental retardation, X-linked syndromic, Turner type
Mus musculus (house mouse)
DOID:0111995
  • immunodeficiency 28
  • Aliases:
    • IFNGR2 deficiency
    • IMD28
    • MSMD due to complete IFNgammaR2 deficiency
    • MSMD due to complete interferon gamma receptor 2 deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
    • immunodeficiency 28, mycobacteriosis
Mus musculus (house mouse)
DOID:0110933
  • nemaline myopathy 11
  • Aliases:
    • NEM11
    • nemaline myopathy 11, autosomal recessive
Mus musculus (house mouse)
DOID:0110484
  • autosomal recessive nonsyndromic deafness 26
  • Aliases:
    • DFNB26
    • autosomal recessive deafness 26
Mus musculus (house mouse)
DOID:0110180
  • Charcot-Marie-Tooth disease axonal type 2CC
  • Aliases:
    • CMT2CC
    • Charcot-Marie-Tooth neuropathy type 2CC
Mus musculus (house mouse)
DOID:0110064
  • amelogenesis imperfecta type 1H
  • Aliases:
    • AI1H
    • amelogenesis imperfecta type IH
Mus musculus (house mouse)
DOID:574
  • peripheral nervous system disease
Mus musculus (house mouse)
DOID:0081326
  • oxoglutarate dehydrogenase deficiency
  • Aliases:
    • Oxoglutaric aciduria
    • alpha-ketoglutarate dehydrogenase deficiency
Mus musculus (house mouse)
DOID:0081397
  • Vissers-Bodmer syndrome
Mus musculus (house mouse)
DOID:0112122
  • X-linked epilepsy with variable learning disabilities and behavior disorders
  • Aliases:
    • X-linked epilepsy-learning disabilities-behavior disorders syndrome
Mus musculus (house mouse)
DOID:0080600
  • COVID-19
  • Aliases:
    • 2019 Novel Coronavirus (2019-nCoV)
    • 2019-nCoV infection
    • COVID19
    • SARS-CoV-2 infection
    • Wuhan coronavirus infection
    • Wuhan seafood market pneumonia virus infection
Mus musculus (house mouse)
DOID:0070418
  • vertebral hypersegmentation and orofacial anomalies
  • Aliases:
    • VHO
Mus musculus (house mouse)
DOID:0070387
  • developmental and epileptic encephalopathy 101
  • Aliases:
    • DEE101
    • early infantile epileptic encephalopathy 101
Mus musculus (house mouse)
DOID:9719
  • neovascular inflammatory vitreoretinopathy
  • Aliases:
    • ADNIV
    • Retinitis proliferans
    • autosomal dominant neovascular inflammatory vitreoretinopathy
    • proliferative vitreoretinopathy
Mus musculus (house mouse)
DOID:8465
  • retinoschisis
Mus musculus (house mouse)
DOID:0070517
  • retinal macular dystrophy 2
  • Aliases:
    • MCDR2
Mus musculus (house mouse)
DOID:0070471
  • early-onset epilepsy 2
  • Aliases:
    • EPEO2
Mus musculus (house mouse)
DOID:0070069
  • autosomal dominant intellectual developmental disorder 39
  • Aliases:
    • MRD39
    • autosomal dominant mental retardation 39
    • autosomal dominant non-syndromic intellectual disability 39
Mus musculus (house mouse)
DOID:0111798
  • X-linked nephrolithiasis type I
  • Aliases:
    • NPHL1
    • X-linked nephrolithiasis with renal failure
    • X-linked recessive urolithiasis type 1
    • XRN
    • nephrolithiasis 1
    • nephrolithiasis X-linked recessive type 1
Mus musculus (house mouse)
DOID:3307
  • teratoma
Mus musculus (house mouse)
DOID:0110082
  • arrhythmogenic right ventricular dysplasia 11
  • Aliases:
    • ARVC11
    • ARVD11
    • arrhythmogenic right ventricular cardiomyopathy 11
    • familial arrhythmogenic right ventricular dysplasia 11
Mus musculus (house mouse)
DOID:4797
  • SM-AHNMD
  • Aliases:
    • systemic mastocytosis with associated clonal haematological non-mast cell lineage disease
    • systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
Mus musculus (house mouse)
DOID:0050977
  • spinocerebellar ataxia type 28
Mus musculus (house mouse)
DOID:5744
  • ovary serous adenocarcinoma
  • Aliases:
    • malignant ovarian serous tumor
    • serous carcinoma of Ovary
Mus musculus (house mouse)

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Last updated: December 9, 2024