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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 3376 - 3400 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0111471
  • combined oxidative phosphorylation deficiency 30
  • Aliases:
    • COXPD30
Homo sapiens (human)
DOID:0070352
  • stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
  • Aliases:
    • CONDSIAS
Homo sapiens (human)
DOID:0050950
  • autosomal recessive cerebellar ataxia
Homo sapiens (human)
DOID:0070409
  • autosomal recessive spinocerebellar ataxia 28
  • Aliases:
    • SCAR28
Homo sapiens (human)
DOID:0112295
  • spondylometaphyseal dysplasia
Homo sapiens (human)
DOID:0111481
  • combined oxidative phosphorylation deficiency 11
  • Aliases:
    • COXPD11
    • infantile encephaloneuromyopathy due to mitochondrial translation defect
Homo sapiens (human)
DOID:0080693
  • Noonan syndrome-like disorder with loose anagen hair 2
Homo sapiens (human)
DOID:0080735
  • Ehlers-Danlos syndrome kyphoscoliotic type 2
Homo sapiens (human)
DOID:0070314
  • obstructive nephropathy
  • Aliases:
    • CON
    • congenital obstructive nephropathy
Homo sapiens (human)
DOID:0070453
  • xanthinuria type II
  • Aliases:
    • XAN2
Homo sapiens (human)
DOID:0112137
  • combined oxidative phosphorylation deficiency 51
  • Aliases:
    • COXPD51
Homo sapiens (human)
DOID:8454
  • riboflavin deficiency
  • Aliases:
    • ariboflavinosis
    • vitamin B2 deficiency
Homo sapiens (human)
DOID:0070339
  • cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Homo sapiens (human)
DOID:0111446
  • progressive myoclonus epilepsy 3
  • Aliases:
    • CLN14 disease
    • EPM3
    • PME type 3
    • Progressive myoclonic epilepsy due to KCTD7 deficiency
    • Progressive myoclonus epilepsy type 3
    • neuronal ceroid lipofuscinosis 14
Homo sapiens (human)
DOID:0110609
  • primary ciliary dyskinesia 23
  • Aliases:
    • CILD23
    • primary ciliary dyskinesia 23 with or without situs inversus
Homo sapiens (human)
DOID:0110612
  • primary ciliary dyskinesia 10
  • Aliases:
    • CILD10
    • primary ciliary dyskinesia 10 with or without situs inversus
Homo sapiens (human)
DOID:0070397
  • hypomyelinating leukodystrophy 23
  • Aliases:
    • HLD23
Homo sapiens (human)
DOID:0070066
  • autosomal dominant intellectual developmental disorder 36
  • Aliases:
    • MRD36
    • autosomal dominant mental retardation 36
    • autosomal dominant non-syndromic intellectual disability 36
Homo sapiens (human)
DOID:3495
  • extrahepatic bile duct adenocarcinoma
  • Aliases:
    • adenocarcinoma of extrahepatic bile duct
Homo sapiens (human)
DOID:12388
  • neurohypophyseal diabetes insipidus
  • Aliases:
    • Pituitary diabetes insipidus
    • Vasopressin deficiency
    • vasopressin defective diabetes insipidus
Homo sapiens (human)
DOID:0070053
  • autosomal dominant intellectual developmental disorder 23
  • Aliases:
    • MRD23
    • autosomal dominant mental retardation 23
    • autosomal dominant non-syndromic intellectual disability 23
Homo sapiens (human)
DOID:0081396
  • neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
  • Aliases:
    • PHRINL syndrome
Homo sapiens (human)
DOID:0081395
  • Harel-Yoon syndrome
  • Aliases:
    • Ocular anomalies-axonal neuropathy-developmental delay syndrome
Homo sapiens (human)
DOID:0112266
  • nephrotic syndrome type 23
  • Aliases:
    • NPHS23
Homo sapiens (human)
DOID:0070486
  • Parkinson's disease 25
  • Aliases:
    • PARK25
    • autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development
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: February 17, 2025