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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 5126 - 5150 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0112336
  • spermatogenic failure 56
  • Aliases:
    • SPGF56
Homo sapiens (human)
DOID:0111910
  • spermatogenic failure
  • Aliases:
    • SPGF
Homo sapiens (human)
DOID:0110605
  • primary ciliary dyskinesia 7
  • Aliases:
    • CILD7
    • primary ciliary dyskinesia 7 with or without situs inversus
Homo sapiens (human)
DOID:0111926
  • spermatogenic failure 39
  • Aliases:
    • SPGF39
Homo sapiens (human)
DOID:0112163
  • spermatogenic failure 45
  • Aliases:
    • SPGF45
Homo sapiens (human)
DOID:0110599
  • primary ciliary dyskinesia 3
  • Aliases:
    • CILD3
    • primary ciliary dyskinesia 3 with or without situs inversus
Homo sapiens (human)
DOID:0112164
  • spermatogenic failure 46
  • Aliases:
    • SPGF46
Homo sapiens (human)
DOID:0111853
  • primary ciliary dyskinesia 40
  • Aliases:
    • CILD40
    • primary ciliary dyskinesia 40 with or without situs inversus
Homo sapiens (human)
DOID:0111214
  • autosomal recessive distal hereditary motor neuronopathy 5
  • Aliases:
    • DSMA5
    • autosomal recessive distal spinal muscular atrophy type 5
    • distal spinal muscular atrophy type 5
    • young adult-onset dHMN
    • young adult-onset distal hereditary motor neuropathy
Homo sapiens (human)
DOID:0112354
  • spermatogenic failure 65
  • Aliases:
    • SPGF65
Homo sapiens (human)
DOID:0111223
  • centronuclear myopathy 1
  • Aliases:
    • CNM1
Homo sapiens (human)
DOID:11252
  • microcytic anemia
Homo sapiens (human)
DOID:0110197
  • Charcot-Marie-Tooth disease dominant intermediate B
  • Aliases:
    • CMTDI1
    • CMTDIB
    • Charcot-Marie-Tooth neuropathy dominant intermediate B
    • DI-CMTB
Homo sapiens (human)
DOID:1827
  • idiopathic generalized epilepsy
  • Aliases:
    • Generalised epilepsy
Homo sapiens (human)
DOID:0070376
  • developmental and epileptic encephalopathy 31B
  • Aliases:
    • DEE31B
Homo sapiens (human)
DOID:0080437
  • developmental and epileptic encephalopathy 31A
  • Aliases:
    • DEE31
    • DEE31A
    • developmental and epileptic encephalopathy 31
    • early infantile epileptic encephalopathy 31
Homo sapiens (human)
DOID:0070347
  • encephalopathy due to defective mitochondrial and peroxisomal fission 1
Homo sapiens (human)
DOID:13711
  • dental fluorosis
  • Aliases:
    • Intrinsic enamel discolouration of fluorosis
    • Mottled teeth
    • Mottling of enamel
Homo sapiens (human)
DOID:0111438
  • optic atrophy 5
  • Aliases:
    • OPA5
Homo sapiens (human)
DOID:14717
  • centronuclear myopathy
  • Aliases:
    • myotubular myopathy
Homo sapiens (human)
DOID:0070354
  • cataract 48
  • Aliases:
    • CTRCT48
Homo sapiens (human)
DOID:8456
  • choline deficiency disease
  • Aliases:
    • choline deficiency
Homo sapiens (human)
DOID:0050968
  • autosomal dominant cerebellar ataxia, deafness and narcolepsy
Homo sapiens (human)
DOID:288
  • endometriosis of uterus
  • Aliases:
    • Endometriosis interna
    • Endometriosis of myometrium
    • Endometriosis, myometrium
    • adenomyosis
    • uterine Adenomyosis
Homo sapiens (human)
DOID:0070158
  • hereditary sensory neuropathy type 1E
  • Aliases:
    • HSN1E
    • hereditary sensory neuropathy type IE
Homo sapiens (human)
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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