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 2801 - 2825 of 4621 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism
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: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: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: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: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: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: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: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: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: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: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: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:0111228
  • Sveinsson chorioretinal atrophy
  • Aliases:
    • HPCD
    • SCRA
    • atrophia areata
    • helicoid peripapillary chorioretinal degeneration
    • peripapillary chorioretinal degeneration, Icelandic type
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:0111223
  • centronuclear myopathy 1
  • Aliases:
    • CNM1
Homo sapiens (human)
DOID:0111218
  • Friedreich ataxia 1
  • Aliases:
    • FA1
    • FRDA1
Homo sapiens (human)
DOID:0111217
  • autosomal dominant centronuclear myopathy
  • Aliases:
    • AD-CNM
Homo sapiens (human)
DOID:0111216
  • autosomal recessive centronuclear myopathy
  • Aliases:
    • AR-CNM
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: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:0111195
  • erythrokeratodermia variabilis et progressiva 1
Homo sapiens (human)
DOID:0111192
  • facioscapulohumeral muscular dystrophy 1
  • Aliases:
    • FSHD1
    • facioscapulohumeral muscular dystrophy type 1
    • facioscapulohumeral muscular dystrophy type 1A
Homo sapiens (human)
DOID:0111182
  • familial hemiplegic migraine 2
  • Aliases:
    • FHM2
    • Familial hemiplegic migraine-2
    • MHP2
Homo sapiens (human)
DOID:0111181
  • familial hemiplegic migraine 1
  • Aliases:
    • FHM1
    • MHP1
    • familial hemiplegic migraine1 with progressive cerebellar ataxia
Homo sapiens (human)
DOID:0111180
  • French Canadian Leigh disease
  • Aliases:
    • French Canadian type COX deficiency
    • French Canadian type Leigh syndrome
    • French Canadian type cytochrome c oxidase deficiency
    • Saguenay Lac saint Jean type COX deficiency
    • Saguenay Lac saint Jean type Leigh syndrome
    • mitochondrial complex IV deficiency nuclear type 5
Homo sapiens (human)

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Last updated: August 19, 2024