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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 10876 - 10900 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:10140
  • dry eye syndrome
  • Aliases:
    • Tear film insufficiency
    • dry eye disease
Saccharomyces cerevisiae S288C
DOID:784
  • chronic kidney disease
  • Aliases:
    • CKD
    • CRF
    • chronic kidney failure
    • chronic renal disease
    • chronic renal failure syndrome
    • renal failure - chronic
Saccharomyces cerevisiae S288C
DOID:0110431
  • dilated cardiomyopathy 1I
  • Aliases:
    • CMD1I
Homo sapiens (human)
DOID:0111551
  • neurogenic scapuloperoneal syndrome Kaeser type
  • Aliases:
    • Kaeser syndrome
    • Stark-Kaeser syndrome
    • scapuloperoneal syndrome type Kaeser
    • scapuloperoneal syndrome, neurogenic, Kaeser type
Homo sapiens (human)
DOID:0080092
  • myofibrillar myopathy 1
  • Aliases:
    • autosomal recessive limb-girdle muscular dystrophy type 2R
    • desminopathy
Homo sapiens (human)
DOID:0081421
  • familial focal epilepsy with variable foci 1
Homo sapiens (human)
DOID:0081423
  • familial focal epilepsy with variable foci 3
Homo sapiens (human)
DOID:0112202
  • developmental and epileptic encephalopathy
Homo sapiens (human)
DOID:0080441
  • developmental and epileptic encephalopathy 49
  • Aliases:
    • DEE49
    • early infantile epileptic encephalopathy 49
Homo sapiens (human)
DOID:0070399
  • hypomyelinating leukodystrophy 18
  • Aliases:
    • HLD18
Homo sapiens (human)
DOID:0060786
  • hypomyelinating leukodystrophy
  • Aliases:
    • HLD
Homo sapiens (human)
DOID:0070054
  • Vulto-van Silfout-de Vries syndrome
  • Aliases:
    • IDDISBAS
    • MRD24
    • VSVS
    • autosomal dominant mental retardation 24
    • autosomal dominant non-syndromic intellectual disability 24
    • intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures
Homo sapiens (human)
DOID:0050457
  • Sertoli cell-only syndrome
  • Aliases:
    • DEL CASTILLO SYNDROME
    • Germinal Cell Aplasia
Homo sapiens (human)
DOID:3869
  • childhood medulloblastoma
  • Aliases:
    • pediatric Medulloblastoma
Homo sapiens (human)
DOID:0060611
  • abdominal obesity-metabolic syndrome
Homo sapiens (human)
DOID:5627
  • adenosquamous gallbladder carcinoma
  • Aliases:
    • Adenosquamous carcinoma of the gallbladder
Homo sapiens (human)
DOID:0112196
  • spondylometaepiphyseal dysplasia, short limb-hand type
  • Aliases:
    • SMED short limb-abnormal calcification type
    • SMED short limb-hand type
    • SMED type 2
    • SMED, type II
    • SMED-SL
    • SMED-SL/AC
    • spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
    • spondylometaepiphyseal dysplasia short limb-hand type
Homo sapiens (human)
DOID:0080569
  • congenital disorder of glycosylation Ir
  • Aliases:
    • congenital disorder of glycosylation 1r
Homo sapiens (human)
DOID:0110806
  • hereditary spastic paraplegia 54
  • Aliases:
    • SPG54
    • autosomal recessive spastic paraplegia 54
    • autosomal recessive spastic paraplegia type 54
Homo sapiens (human)
DOID:0110779
  • hereditary spastic paraplegia 28
  • Aliases:
    • SPG28
    • autosomal recessive spastic paraplegia 28
    • autosomal recessive spastic paraplegia type 28
Homo sapiens (human)
DOID:0050427
  • xeroderma pigmentosum
Homo sapiens (human)
DOID:0111258
  • pentosuria
  • Aliases:
    • L-xylulose reductase deficiency
    • L-xylulosuria
    • PNTSU
    • essential pentosuria
    • xylitol dehydrogenase deficiency
Homo sapiens (human)
DOID:0111202
  • autosomal dominant distal hereditary motor neuronopathy 14
  • Aliases:
    • DHMN7B
    • HMN VIIB
    • HMN7B
    • Harper-Young myopathy
    • distal hereditary motor neuronopathy type 7B
    • distal hereditary motor neuropathy type VIIB
    • distal spinal muscular atrophy with vocal cord paralysis type 7B
Homo sapiens (human)
DOID:0060486
  • Perry syndrome
  • Aliases:
    • parkinsonism with alveolar hypoventilation and mental depression
Homo sapiens (human)
DOID:0060193
  • amyotrophic lateral sclerosis type 1
  • Aliases:
    • ALS1
    • amyotrophic lateral sclerosis 1
Homo sapiens (human)
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Last updated: December 9, 2024