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 7301 - 7325 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:11589
  • Riley-Day syndrome
  • Aliases:
    • HSAN III
    • familial autonomic nervous dysfunction
    • familial dysautonomia
Mus musculus (house mouse)
DOID:4667
  • kyphosis
  • Aliases:
    • Kyphosis deformity of spine
Mus musculus (house mouse)
DOID:0080435
  • developmental and epileptic encephalopathy 37
  • Aliases:
    • DEE37
    • early infantile epileptic encephalopathy 37
Mus musculus (house mouse)
DOID:0070394
  • developmental and epileptic encephalopathy 108
  • Aliases:
    • DEE108
    • early infantile epileptic encephalopathy 108
Homo sapiens (human)
DOID:0081216
  • autosomal recessive intellectual developmental disorder 54
Homo sapiens (human)
DOID:0060301
  • type I complement component 8 deficiency
Mus musculus (house mouse)
DOID:0070357
  • nephrotic syndrome type 20
Homo sapiens (human)
DOID:0060196
  • amyotrophic lateral sclerosis type 4
  • Aliases:
    • ALS 4
    • amyotrophic lateral sclerosis 4
    • amyotrophic lateral sclerosis 4, juvenile
    • dHMN with upper motor neuron signs
    • distal hereditary motor neuropathy with pyramidal features
    • distal hereditary motor neuropathy with upper motor neuron signs
Homo sapiens (human)
DOID:0050755
  • spinocerebellar ataxia with axonal neuropathy 2
  • Aliases:
    • AOA2
    • SCAN2
    • SCAR1
    • ataxia with oculomotor apraxia type 2
    • autosomal recessive spinocerebellar ataxia 1
    • autosomal recessive spinocerebellar ataxia with axonal neuropathy 2
    • spinocerebellar ataxia with axonal neuropathy type 2
Homo sapiens (human)
DOID:0081276
  • cerebellar atrophy, visual impairment, and psychomotor retardation
  • Aliases:
    • CAVIPMR
Homo sapiens (human)
DOID:0070055
  • Xia-Gibbs Syndrome
  • Aliases:
    • MRD25
    • autosomal dominant mental retardation 25
Mus musculus (house mouse)
DOID:4051
  • alveolar rhabdomyosarcoma
  • Aliases:
    • alveolar childhood rhabdomyosarcoma
Homo sapiens (human)
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Mus musculus (house mouse)
DOID:0060239
  • Van der Woude syndrome
Mus musculus (house mouse)
DOID:0081276
  • cerebellar atrophy, visual impairment, and psychomotor retardation
  • Aliases:
    • CAVIPMR
Mus musculus (house mouse)
DOID:5117
  • dermoid cyst of ovary
  • Aliases:
    • Dermoid cyst
    • Ovarian Dermoid Cyst
Homo sapiens (human)
DOID:2785
  • Dandy-Walker syndrome
  • Aliases:
    • Atresia of foramina of Magendie and Luschka
Homo sapiens (human)
DOID:0111122
  • nephronophthisis 14
  • Aliases:
    • NPHP14
Homo sapiens (human)
DOID:2786
  • cerebellar disease
Homo sapiens (human)
DOID:0081082
  • acute myelomonocytic leukemia
Homo sapiens (human)
DOID:0080311
  • X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
Homo sapiens (human)
DOID:0111025
  • cone-rod dystrophy 19
  • Aliases:
    • CORD19
Homo sapiens (human)
DOID:0110262
  • cataract 45
  • Aliases:
    • CTRCT45
Homo sapiens (human)
DOID:0110154
  • Charcot-Marie-Tooth disease type 2A1
  • Aliases:
    • CMT2A1
    • Charcot-Marie-Tooth disease neuronal type 2A1
    • Charcot-Marie-Tooth neuropathy type 2A1
    • HMSN IIA1
    • HMSN2A1
    • autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1
    • hereditary motor and sensory neuropathy IIA1
Homo sapiens (human)
DOID:4500
  • hypokalemia
  • Aliases:
    • hypopotassemia
    • potassium deficiency disorder
Homo sapiens (human)

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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