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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 8826 - 8850 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:11724
  • limb-girdle muscular dystrophy
  • Aliases:
    • Erb's muscular dystrophy
    • Leyden-Mbius muscular dystrophy
    • limb girdle muscular dystrophy
Homo sapiens (human)
DOID:0110242
  • cataract 13 with adult i phenotype
  • Aliases:
    • CTRCT13
Homo sapiens (human)
DOID:13909
  • red-green color blindness
  • Aliases:
    • Deutan defect
    • Deuteranopia
    • Reduced red-green discrimination
Homo sapiens (human)
DOID:3193
  • peripheral nerve sheath neoplasm
  • Aliases:
    • neoplasm of the nerve Sheath
    • nerve sheath tumour
Homo sapiens (human)
DOID:9268
  • glycine encephalopathy
  • Aliases:
    • Non-ketotic hyperglycinemia
    • nonketotic hyperglycinemia
Homo sapiens (human)
DOID:0070330
  • multiple mitochondrial dysfunctions syndrome
  • Aliases:
    • fatal multiple mitochondrial dysfunction syndrome
Homo sapiens (human)
DOID:0080263
  • autosomal recessive nonsyndromic deafness 108
Mus musculus (house mouse)
DOID:0110969
  • brachydactyly type B1
  • Aliases:
    • BDB1
Mus musculus (house mouse)
DOID:0060764
  • autosomal recessive Robinow syndrome
  • Aliases:
    • COVESDEM syndrome
    • RRS
    • costovertebral segmentation defect-mesomelia syndrome
Mus musculus (house mouse)
DOID:0060850
  • annular pancreas
Homo sapiens (human)
DOID:0060772
  • multiple types of congenital heart defects 6
  • Aliases:
    • DTGA3
    • dextro-looped transposition of the great arteries 3
Homo sapiens (human)
DOID:14227
  • azoospermia
Homo sapiens (human)
DOID:0050585
  • congenital generalized lipodystrophy
Homo sapiens (human)
DOID:0111136
  • congenital generalized lipodystrophy type 2
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 2
    • Berardinelli-Seip syndrome
    • Brunzell syndrome BSCL2-related
    • CGL2
    • congenital lipoatrophic diabetes
    • total lipodystrophy and acromegaloid gigantism
Homo sapiens (human)
DOID:0081401
  • autosomal dominant distal hereditary motor neuronopathy 13
Homo sapiens (human)
DOID:0110770
  • hereditary spastic paraplegia 17
  • Aliases:
    • SPG17
    • Silver spastic paraplegia syndrome
    • Silver syndrome
    • autosomal dominant spastic paraplegia 17
    • autosomal dominant spastic paraplegia type 17
    • dHMN5B
    • distal hereditary motor neuropathy type 5B
    • spastic paraplegia with amyotrophy of hands and feet
    • spastic paraplegia-amyotrophy of hands and feet
Homo sapiens (human)
DOID:0111072
  • myostatin-related muscle hypertrophy
  • Aliases:
    • MSLHP
Homo sapiens (human)
DOID:0080871
  • primary ovarian insufficiency 14
Homo sapiens (human)
DOID:12271
  • aniridia
  • Aliases:
    • Aplasia of iris
    • isolated aniridia
Homo sapiens (human)
DOID:543
  • dystonia
  • Aliases:
    • dystonic disease
Rattus norvegicus (Norway rat)
DOID:0060730
  • torsion dystonia 1
  • Aliases:
    • dystonia musculorum deformans
Rattus norvegicus (Norway rat)
DOID:0050836
  • focal dystonia
Rattus norvegicus (Norway rat)
DOID:0080981
  • arthrogryposis multiplex congenita-5
Rattus norvegicus (Norway rat)
DOID:0111863
  • X-linked congenital bilateral absence of vas deferens
  • Aliases:
    • CBAVDX
Rattus norvegicus (Norway rat)
DOID:9784
  • trichinosis
  • Aliases:
    • Trichinella spiralis infection
Rattus norvegicus (Norway rat)
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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