GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1801 - 1825 of 4621 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism
DOID:0111195
  • erythrokeratodermia variabilis et progressiva 1
Homo sapiens (human)
DOID:0111196
  • X-linked distal spinal muscular atrophy 3
  • Aliases:
    • ATP7A-related distal motor neuropathy
    • DSMAX
    • SMAX3
    • X-linked dHMN3
    • X-linked dSMA3
    • X-linked distal hereditary motor neuropathy type 3
    • X-linked recessive distal spinal muscular atrophy
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0111216
  • autosomal recessive centronuclear myopathy
  • Aliases:
    • AR-CNM
Homo sapiens (human)
DOID:0111217
  • autosomal dominant centronuclear myopathy
  • Aliases:
    • AD-CNM
Homo sapiens (human)
DOID:0111218
  • Friedreich ataxia 1
  • Aliases:
    • FA1
    • FRDA1
Homo sapiens (human)
DOID:0111223
  • centronuclear myopathy 1
  • Aliases:
    • CNM1
Homo sapiens (human)
DOID:0111225
  • centronuclear myopathy X-linked
  • Aliases:
    • CNMX
    • MTM1
    • X-linked myotubular myopathy
    • XLCNM
    • XLMTM
    • myotubular myopathy 1
Homo sapiens (human)
DOID:0111228
  • Sveinsson chorioretinal atrophy
  • Aliases:
    • HPCD
    • SCRA
    • atrophia areata
    • helicoid peripapillary chorioretinal degeneration
    • peripapillary chorioretinal degeneration, Icelandic type
Homo sapiens (human)
DOID:0111230
  • congenital muscular dystrophy-dystroglycanopathy type A11
  • Aliases:
    • MDDGA11
    • Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
Homo sapiens (human)
DOID:0111231
  • congenital muscular dystrophy-dystroglycanopathy type A8
  • Aliases:
    • MDDGA8
    • Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
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:0111233
  • congenital muscular dystrophy-dystroglycanopathy A14
  • Aliases:
    • MDDGA14
    • Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14
Homo sapiens (human)
DOID:0111234
  • congenital muscular dystrophy-dystroglycanopathy A7
  • Aliases:
    • MDDGA7
    • Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7
Homo sapiens (human)
DOID:0111235
  • congenital muscular dystrophy-dystroglycanopathy type A12
  • Aliases:
    • MDDGA12
    • Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
Homo sapiens (human)
DOID:0111236
  • congenital muscular dystrophy-dystroglycanopathy type A3
  • Aliases:
    • MDDGA3
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
Homo sapiens (human)
DOID:0111237
  • congenital muscular dystrophy-dystroglycanopathy type A1
  • Aliases:
    • MDDGA1
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
Homo sapiens (human)
DOID:0111238
  • congenital muscular dystrophy-dystroglycanopathy type A13
  • Aliases:
    • MDDGA13
    • Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
    • Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
Homo sapiens (human)
DOID:0111239
  • congenital muscular dystrophy-dystroglycanopathy type A10
  • Aliases:
    • MDDGA10
    • Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10
Homo sapiens (human)
DOID:0111240
  • congenital muscular dystrophy-dystroglycanopathy type A2
  • Aliases:
    • MDDGA2
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
Homo sapiens (human)
DOID:0111241
  • congenital muscular dystrophy-dystroglycanopathy type A5
  • Aliases:
    • MDDGA5
    • Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Homo sapiens (human)
DOID:0111242
  • congenital muscular dystrophy-dystroglycanopathy type A6
  • Aliases:
    • MDDGA6
    • Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6
Homo sapiens (human)
DOID:0111246
  • amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
  • Aliases:
    • ALS-PDC
    • Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome
    • Guam disease
    • Lytico-Bodig disease
    • PDALS
    • amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam
    • parkinsonism-dementia-ALS complex
Homo sapiens (human)
DOID:0111248
  • cerebrocostomandibular syndrome
  • Aliases:
    • CCM syndrome
    • CCMS
    • cerebro-costo-mandibular syndrome
    • rib gap defects with micrognathia
Homo sapiens (human)
DOID:0111252
  • vestibular schwannomatosis
  • Aliases:
    • ACN
    • BANF
    • NF2
    • NF2-related schwannomatosis
    • SWN3
    • SWNV
    • acoustic neurofibromatosis
    • bilateral acoustic neurinoma
    • bilateral acoustic neurofibromatosis
    • bilateral acoustic schwannomas
    • central neurofibromatosis
    • familial acoustic neuromas
    • neurofibromatosis 2
    • neurofibromatosis type II
    • schwannomatosis 3
Homo sapiens (human)

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024