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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 12576 - 12600 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0080693
  • Noonan syndrome-like disorder with loose anagen hair 2
Xenopus tropicalis (tropical clawed frog)
DOID:3371
  • chondrosarcoma
  • Aliases:
    • Cartilaginous cancer
    • chondrosarcoma of bone
    • primary chondrosarcoma of the bone
Danio rerio (zebrafish)
DOID:0111441
  • optic atrophy 1
  • Aliases:
    • OPA1
Homo sapiens (human)
DOID:0111340
  • dominant optic atrophy plus syndrome
  • Aliases:
    • DOA+
    • optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Homo sapiens (human)
DOID:0111580
  • Behr syndrome
  • Aliases:
    • Abortive cerebellar ataxia (BEHRS)
    • BEHRS
    • optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
    • optic atrophy, infantile hereditary, Behr complicated form of
Homo sapiens (human)
DOID:0080336
  • mitochondrial DNA depletion syndrome 14
Homo sapiens (human)
DOID:0112382
  • muscular dystrophy-dystroglycanopathy type C8
  • Aliases:
    • LGMDR24
    • MDDGC2
    • autosomal recessive limb-girdle muscular dystrophy 24
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
    • muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
Danio rerio (zebrafish)
DOID:0111231
  • congenital muscular dystrophy-dystroglycanopathy type A8
  • Aliases:
    • MDDGA8
    • Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
Danio rerio (zebrafish)
DOID:0081424
  • familial focal epilepsy with variable foci 4
Rattus norvegicus (Norway rat)
DOID:0080420
  • developmental and epileptic encephalopathy 62
  • Aliases:
    • DEE62
    • early infantile epileptic encephalopathy 62
Rattus norvegicus (Norway rat)
DOID:9280
  • carbamoyl phosphate synthetase I deficiency disease
  • Aliases:
    • CPS I deficiency
Rattus norvegicus (Norway rat)
DOID:0080113
  • mitochondrial complex III deficiency nuclear type 4
Rattus norvegicus (Norway rat)
DOID:0070461
  • mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
  • Aliases:
    • MC5DN4A
Homo sapiens (human)
DOID:0070462
  • mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
  • Aliases:
    • MC5DN4B
Homo sapiens (human)
DOID:0111498
  • combined oxidative phosphorylation deficiency 22
  • Aliases:
    • COXPD22
Homo sapiens (human)
DOID:0111581
  • C syndrome
  • Aliases:
    • OTCS
    • Opitz C trigonocephaly
    • Opitz trigonocephaly C syndrome
    • Opitz trigonocephaly syndrome
    • trigonocephaly C syndrome
Rattus norvegicus (Norway rat)
DOID:0110536
  • autosomal recessive nonsyndromic deafness 91
  • Aliases:
    • DFNB91
    • autosomal recessive deafness 91
Drosophila melanogaster (fruit fly)
DOID:0081368
  • Paget's disease of bone 5
  • Aliases:
    • Familial osteoectasia
    • Hereditary hyperphosphatasia
    • Hyperostosis corticalis deformans juvenilis
    • Juvenile Paget disease
    • Paget disease of bone-5
Homo sapiens (human)
DOID:0070238
  • primary coenzyme Q10 deficiency 1
  • Aliases:
    • COQ10D1
    • CoQ deficiency 1
    • CoQ10 deficiency, primary, 1
    • coenzyme Q deficiency 1
    • ubiquinone deficiency 1
Rattus norvegicus (Norway rat)
DOID:0112074
  • nuclear type mitochondrial complex I deficiency 1
  • Aliases:
    • MC1DN1
Rattus norvegicus (Norway rat)
DOID:0111801
  • syndromic microphthalmia 3
  • Aliases:
    • AEG syndrome
    • MCOPS3
    • SOX2 anophthalmia syndrome
    • anophthalmia clinical with associated anomalies
    • anophthalmia esophageal genital syndrome
    • anophthalmia microphthalmia esophageal atresia
    • anophthalmia/microphthalmia-esophageal atresia syndrome
    • microphthalmia and esophageal atresia syndrome
    • syndromic microphthalmia type 3
Rattus norvegicus (Norway rat)
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Rattus norvegicus (Norway rat)
DOID:0080512
  • Meier-Gorlin syndrome 1
Homo sapiens (human)
DOID:0080181
  • PHARC syndrome
  • Aliases:
    • polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Rattus norvegicus (Norway rat)
DOID:0050883
  • infantile cerebellar-retinal degeneration
Homo sapiens (human)
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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: December 9, 2024