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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 2926 - 2950 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0110017
  • age related macular degeneration 4
  • Aliases:
    • ARMD4
Homo sapiens (human)
DOID:0110015
  • age related macular degeneration 2
  • Aliases:
    • ARMD2
Homo sapiens (human)
DOID:0110014
  • age related macular degeneration 1
  • Aliases:
    • ARMD1
    • age related maculopathy 1
Homo sapiens (human)
DOID:0110013
  • advanced sleep phase syndrome 3
  • Aliases:
    • FASPS3
    • familial advanced sleep phase syndrome 3
Homo sapiens (human)
DOID:0110011
  • advanced sleep phase syndrome 1
  • Aliases:
    • FASPS1
    • familial advanced sleep phase syndrome 1
Homo sapiens (human)
DOID:0110009
  • achromatopsia 7
  • Aliases:
    • ACHM7
Homo sapiens (human)
DOID:0110007
  • achromatopsia 2
  • Aliases:
    • ACHM2
    • RMCH2
    • rod monochromacy 2
    • rod monochromatism 2
Homo sapiens (human)
DOID:0110004
  • 3-methylglutaconic aciduria type 3
  • Aliases:
    • 3-methylglutaconic aciduria type III
    • Costeff optic atrophy syndrome
    • Costeff syndrome
    • Iraqi-Jewish optic atrophy plus
    • MGA3
    • autosomal recessive optic atrophy plus syndrome
    • autosomal recessive optic atrophy type 3
    • infantile optic atrophy with chorea and spastic paraplegia
Homo sapiens (human)
DOID:0090145
  • dopamine beta-hydroxylase deficiency
  • Aliases:
    • congenital dopamine beta-hydroxylase deficiency
    • noradrenaline deficiency
    • norepinephrine deficiency
Homo sapiens (human)
DOID:0090144
  • Donnai-Barrow syndrome
  • Aliases:
    • DBS/FOAR syndrome
    • FOAR syndrome
    • Holmes-Schepens syndrome
    • diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria
    • diaphragmatic hernia-exomphalos-hypertelorism syndrome
    • diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
    • facio-oculo-acoustico-renal syndrome
    • faciooculoacousticorenal syndrome
    • syndrome of ocular and facial anomalies, telecanthus and deafness
Homo sapiens (human)
DOID:0090143
  • brachyolmia-amelogenesis imperfecta syndrome
  • Aliases:
    • DASS
    • STHAG6
    • dental anomalies and short stature
    • platyspondyly with amelogenesis imperfecta
    • selective tooth agenesis 5
Homo sapiens (human)
DOID:0090142
  • cystathioninuria
  • Aliases:
    • cystathionase deficiency
    • cystathione gamma-lyase deficiency syndrome
    • gamma-cystathionase deficiency
Homo sapiens (human)
DOID:0090141
  • cortisone reductase deficiency 1
  • Aliases:
    • CORTRD1
Homo sapiens (human)
DOID:0090140
  • cortisone reductase deficiency 2
  • Aliases:
    • CORTRD2
Homo sapiens (human)
DOID:0090139
  • cortisone reductase deficiency
  • Aliases:
    • CORTRD
Homo sapiens (human)
DOID:0090137
  • complex cortical dysplasia with other brain malformations 1
  • Aliases:
    • CDCBM1
    • cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Homo sapiens (human)
DOID:0090136
  • complex cortical dysplasia with other brain malformations 6
  • Aliases:
    • CDCBM56
Homo sapiens (human)
DOID:0090135
  • complex cortical dysplasia with other brain malformations 5
  • Aliases:
    • CDCBM5
Homo sapiens (human)
DOID:0090134
  • complex cortical dysplasia with other brain malformations 3
  • Aliases:
    • CDCBM3
Homo sapiens (human)
DOID:0090132
  • complex cortical dysplasia with other brain malformations 7
  • Aliases:
    • CDCBM7
    • polymicrogyria due to TUBB2B mutation
Homo sapiens (human)
DOID:0090131
  • complex cortical dysplasia with other brain malformations
  • Aliases:
    • CDCBM
Homo sapiens (human)
DOID:0090130
  • cortical dysplasia-focal epilepsy syndrome
  • Aliases:
    • CDFE syndrome
    • CDFES
    • PTHSL1
    • Pitt-Hopkins-like syndrome-1
Homo sapiens (human)
DOID:0090129
  • carnitine palmitoyltransferase I deficiency
  • Aliases:
    • CPT I deficiency
    • CPT1A deficiency
    • L-CPT1 deficiency
    • carnitine palmitoyl transferase 1A deficiency
    • carnitine palmitoyl transferase IA deficiency
    • hepatic CPT deficiency type I
    • hepatic carnitine palmitoyl transferase 1 deficiency
    • hepatic carnitine palmitoyl transferase I deficiency
Homo sapiens (human)
DOID:0090128
  • Carvajal syndrome
  • Aliases:
    • DCWHK
    • dilated cardiomyopathy with woolly hair and keratoderma
    • palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
Homo sapiens (human)
DOID:0090127
  • camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • Aliases:
    • CACP
    • CACP syndrome
    • CAP syndrome
    • Jacobs syndrome
    • PAC syndrome
    • arthropathy-camptodactyly syndrome
    • camptodactyly-arthropathy-pericarditis syndrome
    • congenital familial hypertrophic synovitis
    • familial fibrosing serositis
    • pericarditis-arthropathy-camptodactyly syndrome
Homo sapiens (human)
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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