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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 13476 - 13500 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0070146
  • hereditary sensory neuropathy type 4
  • Aliases:
    • hereditary sensory neuropathy type IV
    • insensitivity to pain, congenital, with anhidrosis
Rattus norvegicus (Norway rat)
DOID:0111800
  • syndromic microphthalmia 12
  • Aliases:
    • MCOPS12
    • microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects
Homo sapiens (human)
DOID:4648
  • familial retinoblastoma
  • Aliases:
    • Hereditary Retinoblastoma
Homo sapiens (human)
DOID:0050804
  • glioblastoma proneural subtype
Homo sapiens (human)
DOID:0110225
  • Brugada syndrome 8
  • Aliases:
    • BRGDA8
Rattus norvegicus (Norway rat)
DOID:0060674
  • catecholaminergic polymorphic ventricular tachycardia
Rattus norvegicus (Norway rat)
DOID:0060679
  • catecholaminergic polymorphic ventricular tachycardia 5
  • Aliases:
    • CVPT5
Rattus norvegicus (Norway rat)
DOID:0070041
  • autosomal dominant intellectual developmental disorder 11
  • Aliases:
    • MRD11
    • autosomal dominant mental retardation 11
    • autosomal dominant non-syndromic intellectual disability 11
Rattus norvegicus (Norway rat)
DOID:0070013
  • Seckel syndrome 2
  • Aliases:
    • SCKL2
    • Seckel-type dwarfism 2
    • microcephalic primordial dwarfism 2
Homo sapiens (human)
DOID:0060210
  • amyotrophic lateral sclerosis type 19
  • Aliases:
    • ALS19
    • amyotrophic lateral sclerosis 19
Rattus norvegicus (Norway rat)
DOID:0050598
  • extrapulmonary tuberculosis
Rattus norvegicus (Norway rat)
DOID:0110206
  • Charcot-Marie-Tooth disease dominant intermediate F
  • Aliases:
    • CMTDIF
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Homo sapiens (human)
DOID:0080575
  • Larsen-like syndrome B3GAT3 type
  • Aliases:
    • Larsen-like syndrome, B3GAT3 type
    • multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
Xenopus tropicalis (tropical clawed frog)
DOID:0110393
  • retinitis pigmentosa 66
  • Aliases:
    • RP66
Homo sapiens (human)
DOID:9206
  • Barrett's esophagus
  • Aliases:
    • Barrett esophagus
    • Barrett's esophagus with esophagitis
    • Barrett's oesophagus
    • Barrett's ulcer of esophagus
    • Barretts syndrome
    • ulcerative esophagitis
Xenopus tropicalis (tropical clawed frog)
DOID:0080563
  • congenital disorder of glycosylation Ik
  • Aliases:
    • congenital disorder of glycosylation 1k
Xenopus tropicalis (tropical clawed frog)
DOID:0110669
  • congenital myasthenic syndrome 14
  • Aliases:
    • CMS14
    • CMSTA3
    • congenital myasthenic syndrome 14, with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 3
Xenopus tropicalis (tropical clawed frog)
DOID:0080561
  • congenital disorder of glycosylation Ii
  • Aliases:
    • congenital disorder of glycosylation 1i
Xenopus tropicalis (tropical clawed frog)
DOID:13910
  • red color blindness
  • Aliases:
    • Protan defect
    • Protanopia
Homo sapiens (human)
DOID:11105
  • fundus albipunctatus
  • Aliases:
    • Pigmentary retinal dystrophy
    • retinitis punctata albescens
Homo sapiens (human)
DOID:8499
  • night blindness
  • Aliases:
    • nyctalopia
Homo sapiens (human)
DOID:0110383
  • retinitis pigmentosa 7
  • Aliases:
    • RP7
Homo sapiens (human)
DOID:0060866
  • patterned macular dystrophy 1
  • Aliases:
    • MDPT1
    • butterfly-shaped pigmentary maculary dystrophy 1
Homo sapiens (human)
DOID:9822
  • partial central choroid dystrophy
  • Aliases:
    • Choroidal dystrophy, central areolar
Homo sapiens (human)
DOID:0060863
  • patterned macular dystrophy
  • Aliases:
    • patterned dystrophy of retinal pigment epithelium
Homo sapiens (human)
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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: December 9, 2024