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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4626 - 4650 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:178
  • vascular disease
  • Aliases:
    • vascular tissue disease
Homo sapiens (human)
DOID:0111480
  • combined oxidative phosphorylation deficiency 10
  • Aliases:
    • COXPD10
    • infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis
    • mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Homo sapiens (human)
DOID:0110821
  • hereditary spastic paraplegia 76
  • Aliases:
    • SPG76
    • autosomal recessive spastic paraplegia 76
Homo sapiens (human)
DOID:0070290
  • primary autosomal recessive microcephaly 6
  • Aliases:
    • MCPH6
Drosophila melanogaster (fruit fly)
DOID:3138
  • acanthosis nigricans
  • Aliases:
    • keratosis nigricans
Homo sapiens (human)
DOID:4479
  • pseudohypoaldosteronism
Mus musculus (house mouse)
DOID:0110497
  • autosomal recessive nonsyndromic deafness 39
  • Aliases:
    • DFNB39
    • autosomal recessive deafness 39
Homo sapiens (human)
DOID:0050855
  • renal fibrosis
Rattus norvegicus (Norway rat)
DOID:0070035
  • autosomal dominant intellectual developmental disorder 5
  • Aliases:
    • MRD5
    • autosomal dominant mental retardation 5
    • autosomal dominant non-syndromic intellectual disability 5
Homo sapiens (human)
DOID:0060987
  • preaxial polydactyly I
Homo sapiens (human)
DOID:0110922
  • familial hemophagocytic lymphohistiocytosis 2
  • Aliases:
    • FHL2
    • HLH2
    • HPLH2
Mus musculus (house mouse)
DOID:4441
  • dysgerminoma
Homo sapiens (human)
DOID:0110591
  • autosomal dominant nonsyndromic deafness 7
  • Aliases:
    • DFNA7
    • autosomal dominant deafness 7
Homo sapiens (human)
DOID:0070295
  • primary autosomal dominant microcephaly 18
  • Aliases:
    • MCPH18
Homo sapiens (human)
DOID:0111232
  • congenital muscular dystrophy-dystroglycanopathy type A9
  • Aliases:
    • MDDGA9
    • Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
Homo sapiens (human)
DOID:0070555
  • Nagashima-type palmoplantar keratosis
  • Aliases:
    • NPPK
    • PPKN
    • palmoplantar keratoderma nagashima type
Homo sapiens (human)
DOID:0080409
  • familial adenomatous polyposis 1
  • Aliases:
    • adenocarcinoma in adenomatous polyposis coli
Homo sapiens (human)
DOID:0110864
  • congenital stationary night blindness 1F
  • Aliases:
    • CSNB1F
    • congenital stationary night blindness 1F autosomal recessive
Homo sapiens (human)
DOID:0080160
  • Cytomegalovirus retinitis
  • Aliases:
    • CMV retinitis
Homo sapiens (human)
DOID:0081125
  • craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
Homo sapiens (human)
DOID:0110284
  • autosomal recessive limb-girdle muscular dystrophy type 2L
  • Aliases:
    • LGMD2L
    • muscular dystrophy, limb-girdle, type 2L
Homo sapiens (human)
DOID:9277
  • primary cerebellar degeneration
Homo sapiens (human)
DOID:1307
  • dementia
Homo sapiens (human)
DOID:5453
  • pulmonary venoocclusive disease
  • Aliases:
    • pulmonary veno-occlusive disease
Rattus norvegicus (Norway rat)
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
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: April 7, 2025