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 8901 - 8925 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0060823
  • syndromic X-linked intellectual disability 94
  • Aliases:
    • MRX94
    • MRXS29
    • mental retardation, X-linked 94
    • syndromic X-linked intellectual disability due to GRIA3 anomalies
    • syndromic X-linked mental retardation 29
    • syndromic X-linked mental retardation Wu type
Rattus norvegicus (Norway rat)
DOID:0081235
  • autosomal recessive intellectual developmental disorder 76
Rattus norvegicus (Norway rat)
DOID:5418
  • schizoaffective disorder
Rattus norvegicus (Norway rat)
DOID:0060307
  • autosomal dominant intellectual developmental disorder
  • Aliases:
    • autosomal dominant mental retardation
    • autosomal dominant non-syndromic mental retardation
Rattus norvegicus (Norway rat)
DOID:5418
  • schizoaffective disorder
Mus musculus (house mouse)
DOID:0081235
  • autosomal recessive intellectual developmental disorder 76
Mus musculus (house mouse)
DOID:331
  • central nervous system disease
Mus musculus (house mouse)
DOID:2977
  • primary hyperoxaluria
Mus musculus (house mouse)
DOID:0111671
  • primary hyperoxaluria type 2
  • Aliases:
    • D-glycerate dehydrogenase deficiency
    • HP2
    • L-glyceric aciduria
    • glyoxylate reductase/hydroxypyruvate reductase deficiency
    • oxalosis II
Mus musculus (house mouse)
DOID:0060239
  • Van der Woude syndrome
Mus musculus (house mouse)
DOID:0080669
  • posterior polymorphous corneal dystrophy 4
Mus musculus (house mouse)
DOID:0110557
  • autosomal dominant nonsyndromic deafness 28
  • Aliases:
    • DFNA28
    • autosomal dominant deafness 28
Mus musculus (house mouse)
DOID:0080431
  • developmental and epileptic encephalopathy 19
  • Aliases:
    • DEE19
    • early infantile epileptic encephalopathy 19
Drosophila melanogaster (fruit fly)
DOID:0111314
  • idiopathic generalized epilepsy 13
  • Aliases:
    • EIG13
Drosophila melanogaster (fruit fly)
DOID:0112215
  • developmental and epileptic encephalopathy 79
  • Aliases:
    • DEE79
    • early infantile epileptic encephalopathy 79
Drosophila melanogaster (fruit fly)
DOID:1827
  • idiopathic generalized epilepsy
  • Aliases:
    • Generalised epilepsy
Drosophila melanogaster (fruit fly)
DOID:7725
  • epilepsy with generalized tonic-clonic seizures
  • Aliases:
    • Epileptic seizures, tonic-clonic
    • Grand Mal epilepsy
    • tonic-clonic epilepsy
Drosophila melanogaster (fruit fly)
DOID:0111621
  • Temtamy syndrome
  • Aliases:
    • Temtamy-Shalash syndrome
    • craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation
    • craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
    • dysmorphism, corpus callosum agenesis and colobomas
Mus musculus (house mouse)
DOID:14681
  • Silver-Russell syndrome
  • Aliases:
    • Silver Russell Dwarfism
Mus musculus (house mouse)
DOID:0112298
  • spondylometaphyseal dysplasia Sedaghatian type
  • Aliases:
    • SMDS
    • Sedaghatian chondrodysplasia
    • congenital lethal metaphyseal chondrodysplasia
Mus musculus (house mouse)
DOID:285
  • hairy cell leukemia
Mus musculus (house mouse)
DOID:1099
  • alpha thalassemia
  • Aliases:
    • Alpha thalassaemia
    • alpha-Thalassemia
Mus musculus (house mouse)
DOID:0111738
  • X-linked deafness 7
  • Aliases:
    • DFNX7
    • X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Mus musculus (house mouse)
DOID:0080960
  • amelogenesis imperfecta type 2A6
  • Aliases:
    • Amelogenesis imperfecta, hypomaturation type, IIA6
Mus musculus (house mouse)
DOID:0110869
  • congenital stationary night blindness 1E
  • Aliases:
    • CSNB1E
    • congenital stationary night blindness 1E autosomal recessive
Mus musculus (house mouse)

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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