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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 3751 - 3775 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0070357
  • nephrotic syndrome type 20
Homo sapiens (human)
DOID:0070356
  • visual impairment and progressive phthisis bulbi
Homo sapiens (human)
DOID:0070355
  • overactive bladder syndrome
  • Aliases:
    • OAB
    • overactive bladder
    • urge syndrome
    • urgency-frequency syndrome
Homo sapiens (human)
DOID:0070354
  • cataract 48
  • Aliases:
    • CTRCT48
Homo sapiens (human)
DOID:0070352
  • stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
  • Aliases:
    • CONDSIAS
Homo sapiens (human)
DOID:0070351
  • spinal muscular atrophy with lower extremity predominant 1
  • Aliases:
    • spinal muscular atrophy with lower extremity predominance 1
Homo sapiens (human)
DOID:0070347
  • encephalopathy due to defective mitochondrial and peroxisomal fission 1
Homo sapiens (human)
DOID:0070346
  • neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Homo sapiens (human)
DOID:0070345
  • vertebral anomalies and variable endocrine and T-cell dysfunction
  • Aliases:
    • heterozygotes for TBX2 variants
Homo sapiens (human)
DOID:0070344
  • ocular tuberculosis
Homo sapiens (human)
DOID:0070343
  • CSF1R-related brain malformation and osteopetrosis
  • Aliases:
    • osteoporosis and infantile neuroaxonal dystrophy
Homo sapiens (human)
DOID:0070342
  • adult-onset type II citrullinemia
  • Aliases:
    • citrin deficiency
Homo sapiens (human)
DOID:0070341
  • neonatal-onset type II citrullinemia
  • Aliases:
    • neonatal-onset type 2 citrullinemia
Homo sapiens (human)
DOID:0070340
  • classic citrullinemia
Homo sapiens (human)
DOID:0070339
  • cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Homo sapiens (human)
DOID:0070338
  • cerebellar hypoplasia
Homo sapiens (human)
DOID:0070337
  • epithelial recurrent erosion dystrophy
  • Aliases:
    • COL17A1
    • ERED
Homo sapiens (human)
DOID:0070336
  • arthrogryposis multiplex congenita-6
Homo sapiens (human)
DOID:0070332
  • multiple mitochondrial dysfunctions syndrome 6
Homo sapiens (human)
DOID:0070330
  • multiple mitochondrial dysfunctions syndrome
  • Aliases:
    • fatal multiple mitochondrial dysfunction syndrome
Homo sapiens (human)
DOID:0070329
  • mitochondrial DNA depletion syndrome
  • Aliases:
    • mtDNA depletion syndrome
Homo sapiens (human)
DOID:0070316
  • Miura type epiphyseal chondrodysplasia
  • Aliases:
    • ECDM
    • tall stature-scoliosis-macrodactyly of the great toes syndrome
    • tall stature-scoliosis-macrodactyly of the halluces syndrome
Homo sapiens (human)
DOID:0070314
  • obstructive nephropathy
  • Aliases:
    • CON
    • congenital obstructive nephropathy
Homo sapiens (human)
DOID:0070311
  • oligoasthenoteratozoospermia
  • Aliases:
    • OAT
    • oligoasthenoteratospermia
Homo sapiens (human)
DOID:0070309
  • absence epilepsy
Homo sapiens (human)
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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

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Last updated: December 9, 2024