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 12426 - 12450 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:4251
  • conjunctival disease
Homo sapiens (human)
DOID:0111799
  • syndromic microphthalmia 1
  • Aliases:
    • Lenz dysplasia
    • Lenz microphthalmia
    • Lenz type microphthalmia
    • MCOPS1
Homo sapiens (human)
DOID:2217
  • Bernard-Soulier syndrome
  • Aliases:
    • Bernard - Soulier thrombopathy
    • Bernard Soulier syndrome
    • Giant platelet syndrome
    • Hemorrhagic dystrophic thrombocytopenia
    • Thrombopathy, Bernard-Soulier
Homo sapiens (human)
DOID:0111183
  • familial hemiplegic migraine 3
  • Aliases:
    • FHM3
    • MHP3
Homo sapiens (human)
DOID:0111527
  • spinal muscular atrophy with progressive myoclonic epilepsy
  • Aliases:
    • Jankovic-Rivera syndrome
    • SMA-PME
    • SMAPME
    • hereditary myoclonus-progressive distal muscular atrophy syndrome
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:14453
  • farmer's lung
  • Aliases:
    • Farmers lung
    • farmer lung
Homo sapiens (human)
DOID:11847
  • coronary thrombosis
  • Aliases:
    • Coronary artery thrombosis
Homo sapiens (human)
DOID:3904
  • bronchus carcinoma
  • Aliases:
    • BC - Bronchogenic carcinoma
Homo sapiens (human)
DOID:0111043
  • glycogen storage disease IXc
  • Aliases:
    • GSD type 9C
    • GSD type IXc
    • GSD9C
    • glycogen storage disease type 9C
    • glycogen storage disease type IXc
    • glycogenosis type 9C
    • glycogenosis type IXc
Homo sapiens (human)
DOID:0111913
  • spermatogenic failure 30
  • Aliases:
    • SPGF30
Homo sapiens (human)
DOID:0080272
  • nephrotic syndrome type 16
Homo sapiens (human)
DOID:0060894
  • early-onset Parkinson's disease
  • Aliases:
    • early-onset Parkinson disease
Homo sapiens (human)
DOID:9669
  • senile cataract
Homo sapiens (human)
DOID:0060756
  • sclerosteosis 1
  • Aliases:
    • SOST1
Homo sapiens (human)
DOID:0111070
  • congenital bile acid synthesis defect 3
  • Aliases:
    • CBAS3
    • oxysterol 7-alpha-hydroxylase deficiency
Homo sapiens (human)
DOID:0080122
  • Alpers-Huttenlocher syndrome
  • Aliases:
    • Alper's syndrome
    • Alpers disease
    • Alpers progressive infantile poliodystrophy
    • Alpers syndrome
    • Alpers' disease or gray-matter degeneration
    • Diffuse Cerebral Sclerosis of Schilder
    • mitochondrial DNA depletion syndrome 4a
    • progressive sclerosing poliodystrophy
Homo sapiens (human)
DOID:0111452
  • progressive myoclonus epilepsy 1A
  • Aliases:
    • EPM1A
Homo sapiens (human)
DOID:0110880
  • holoprosencephaly 4
  • Aliases:
    • HPE4
Homo sapiens (human)
DOID:7400
  • Nijmegen breakage syndrome
  • Aliases:
    • Berlin breakage syndrome
    • Microcephaly, normal intelligence and immunodeficiency
    • NBS
    • Seemanova syndrome II
    • Seemanova syndrome type 2
    • ataxia-telangiectasia variant
    • immunodeficiency-microcephaly-chromosomal instability syndrome
    • microcephaly-immunodeficiency-lymphoreticuloma syndrome
Homo sapiens (human)
DOID:0112155
  • inflammatory bowel disease 29
  • Aliases:
    • IBD29
Homo sapiens (human)
DOID:0112022
  • non-syndromic X-linked intellectual disability 21
  • Aliases:
    • MRX21
    • MRX34
    • X-linked mental retardation 21
    • X-linked mental retardation 21/34
    • X-linked mental retardation 34
Homo sapiens (human)
DOID:0111795
  • congenital nystagmus 6
  • Aliases:
    • NYS6
    • X-linked congenital nystagmus 6
Homo sapiens (human)
DOID:0080301
  • atypical hemolytic-uremic syndrome
Homo sapiens (human)
DOID:0080899
  • lung pleomorphic carcinoma
Homo sapiens (human)

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Last updated: December 9, 2024