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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 5051 - 5075 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:0060601
  • alpha-2-plasmin inhibitor deficiency
  • Aliases:
    • antiplasmin defiency
    • plasmin inhibitor deficiency
Mus musculus (house mouse)
DOID:0110451
  • dilated cardiomyopathy 1O
  • Aliases:
    • CMD1O
    • dilated cardiomyopathy with ventricular tachycardia
Saccharomyces cerevisiae S288C
DOID:0080442
  • developmental and epileptic encephalopathy 41
  • Aliases:
    • DEE41
    • early infantile epileptic encephalopathy 41
Mus musculus (house mouse)
DOID:0110635
  • muscular dystrophy-dystroglycanopathy type B5
  • Aliases:
    • FKRP-related congenital muscular dystrophy
    • MDC1C
    • MDDGB5
    • congenital muscular dystrophy 1C
    • muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
    • muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Xenopus laevis (African clawed frog)
DOID:0110668
  • congenital myasthenic syndrome 10
  • Aliases:
    • CMS10
    • LGM
    • congenital muscular dystrophy merosin-positive
    • familial limb-girdle myasthenia
Homo sapiens (human)
DOID:3603
  • mucinous cystadenocarcinoma
  • Aliases:
    • Pseudomucinous cystadenocarcinoma
Homo sapiens (human)
DOID:3192
  • neurilemmoma
  • Aliases:
    • Psammomatous schwannoma
    • schwannoma
Danio rerio (zebrafish)
DOID:0112125
  • alpha-thalassemia myelodysplasia syndrome
  • Aliases:
    • ATMDS
    • acquired HbH disease
    • acquired hemoglobin H disease
    • alpha-thalassemia-myelodysplastic syndrome
Homo sapiens (human)
DOID:10892
  • hypospadias
  • Aliases:
    • familial hypospadias
Rattus norvegicus (Norway rat)
DOID:0050912
  • colon adenoma
Homo sapiens (human)
DOID:0060367
  • Parkinson's disease 1
  • Aliases:
    • autosomal dominant Parkinson disease 1
    • autosomal dominant Parkinson's disease 1
Homo sapiens (human)
DOID:0080028
  • spondyloepimetaphyseal dysplasia, Strudwick type
Homo sapiens (human)
DOID:0060309
  • syndromic X-linked intellectual disability
  • Aliases:
    • syndromic X-linked mental retardation
Drosophila melanogaster (fruit fly)
DOID:332
  • amyotrophic lateral sclerosis
  • Aliases:
    • ALS
    • Lou Gehrig's disease
    • motor neuron disease, bulbar
Xenopus laevis (African clawed frog)
DOID:1825
  • childhood absence epilepsy
  • Aliases:
    • petit mal seizure
    • pyknolepsy
Drosophila melanogaster (fruit fly)
DOID:0110057
  • amelogenesis imperfecta type 2A1
  • Aliases:
    • AI2A1
    • amelogenesis imperfecta pigmented hypomaturation type 1
    • amelogenesis imperfecta type IIA1
Homo sapiens (human)
DOID:3211
  • lysosomal storage disease
  • Aliases:
    • disorder of lysosomal enzyme
    • inborn lysosomal enzyme disorder
    • lysosomal storage metabolism disorder
Mus musculus (house mouse)
DOID:0110372
  • retinitis pigmentosa 4
  • Aliases:
    • RP4
Rattus norvegicus (Norway rat)
DOID:6132
  • bronchitis
  • Aliases:
    • CI - Chest infection
    • Chest infection
    • acute Bronchitis
    • chest cold
    • chronic bronchitis
    • recurrent wheezy bronchitis
Rattus norvegicus (Norway rat)
DOID:12783
  • migraine without aura
  • Aliases:
    • common migraine
Rattus norvegicus (Norway rat)
DOID:0080283
  • developmental and epileptic encephalopathy 55
  • Aliases:
    • DEE55
    • GPIBD14
    • early infantile epileptic encephalopathy 55
    • glycosylphosphatidylinositol biosynthesis defect 14
Homo sapiens (human)
DOID:8991
  • cervix uteri carcinoma in situ
  • Aliases:
    • CIN III
    • CIN III - carcinoma in situ of cervix
    • CIN III - severe dyskaryosis
    • Cervix Ca in situ
    • Severe Dysplasia of the Cervix Uteri
    • Severe dysplasia of cervix
    • carcinoma in situ of cervix
    • carcinoma in situ of uterine cervix
    • carcinoma of cervix stage 0
    • cervical intraepithelial neoplasia grade III with severe dysplasia
    • squamous intraepithelial neoplasia, grade III
Homo sapiens (human)
DOID:8545
  • malignant hyperthermia
  • Aliases:
    • anesthesia related hyperthermia
    • malignant hyperpyrexia due to anesthesia
Danio rerio (zebrafish)
DOID:0050797
  • peroxisomal acyl-CoA oxidase deficiency
  • Aliases:
    • Peroxisomal acyl-coenzyme A oxidase
Homo sapiens (human)
DOID:0110384
  • retinitis pigmentosa 25
  • Aliases:
    • RP25
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