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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 3176 - 3200 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:4959
  • epidermolysis bullosa dystrophica
  • Aliases:
    • Dystrophic epidermolysis bullosa
Homo sapiens (human)
DOID:0111345
  • transient bullous dermolysis of the newborn
  • Aliases:
    • DEB, bullous dermolysis of the newborn
    • DEB-BDN
Homo sapiens (human)
DOID:0080086
  • nonsyndromic congenital nail disorder 8
  • Aliases:
    • isolated toenail dystrophy
Homo sapiens (human)
DOID:0080988
  • pretibial dystrophic epidermolysis bullosa
Homo sapiens (human)
DOID:0111347
  • epidermolysis bullosa with congenital localized absence of skin and deformity of nails
  • Aliases:
    • EBD, Bart type
    • epidermolysis bullosa dystrophica, Bart type
Homo sapiens (human)
DOID:0080224
  • autosomal dominant dystrophic epidermolysis bullosa
Homo sapiens (human)
DOID:0111141
  • delayed sleep phase syndrome
  • Aliases:
    • DSPD
Mus musculus (house mouse)
DOID:0080093
  • myofibrillar myopathy 2
  • Aliases:
    • alpha-b crystallinopathy
Mus musculus (house mouse)
DOID:0110174
  • Charcot-Marie-Tooth disease axonal type 2L
  • Aliases:
    • CMT2L
    • Charcot-Marie-Tooth neuropathy axonal type 2L
    • autosomal dominant Charcot-Marie-Tooth disease type 2L
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2L
Mus musculus (house mouse)
DOID:0110266
  • cataract 9 multiple types
  • Aliases:
    • CTRCT9
    • cataract 9 multiple types with or without microcornea
Mus musculus (house mouse)
DOID:0111206
  • autosomal dominant distal hereditary motor neuronopathy 2
  • Aliases:
    • HMN II
    • HMN IIA
    • HMN2
    • HMN2A
    • autosomal dominant adult spinal muscular atrophy IIA
    • distal hereditary motor neuronopathy type 2
    • distal hereditary motor neuronopathy type 2A
    • distal hereditary motor neuropathy type II
    • distal hereditary motor neuropathy type IIA
    • spinal Charcot-Marie-Tooth disease IIA
Mus musculus (house mouse)
DOID:0110450
  • dilated cardiomyopathy 1II
  • Aliases:
    • CMD1II
Mus musculus (house mouse)
DOID:0080309
  • fatal infantile hypertonic myofibrillar myopathy
Mus musculus (house mouse)
DOID:0110250
  • cataract 16 multiple types
  • Aliases:
    • CTRCT16
Mus musculus (house mouse)
DOID:0110856
  • posterior polymorphous corneal dystrophy 2
  • Aliases:
    • Ppcd2
Homo sapiens (human)
DOID:0070301
  • multiple epiphyseal dysplasia 6
  • Aliases:
    • EDM6
Homo sapiens (human)
DOID:0050852
  • limb ischemia
Mus musculus (house mouse)
DOID:5223
  • infertility
Mus musculus (house mouse)
DOID:13139
  • crescentic glomerulonephritis
Mus musculus (house mouse)
DOID:9253
  • gastrointestinal stromal tumor
  • Aliases:
    • GANT
    • GIST
    • Stromal tumor of gastrointestinal tract
    • Stromal tumour of gastrointestinal tract
    • gastrointestinal stromal tumour
Mus musculus (house mouse)
DOID:0080006
  • bone development disease
Mus musculus (house mouse)
DOID:0080523
  • adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
  • Aliases:
    • hereditary diffuse leukoencephalopathy with spheroids
Mus musculus (house mouse)
DOID:0070343
  • CSF1R-related brain malformation and osteopetrosis
  • Aliases:
    • osteoporosis and infantile neuroaxonal dystrophy
Mus musculus (house mouse)
DOID:0070298
  • multiple epiphyseal dysplasia 2
  • Aliases:
    • EDM2
Homo sapiens (human)
DOID:12120
  • pulmonary alveolar proteinosis
Mus musculus (house mouse)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

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