GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 2001 - 2025 of 7942 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism
DOID:0090114
  • Sorsby's fundus dystrophy
  • Aliases:
    • SFD
    • hemorrhagic macular dystrophy
    • pseudoinflammatory fundus dystrophy of Sorsby
Homo sapiens (human)
DOID:0090116
  • spondylocarpotarsal synostosis syndrome
  • Aliases:
    • SCT
    • congenital scoliosis with unilateral unsegmented bar
    • congenital synspondylism
    • spondylocarpotarsal syndrome
    • spondylocarpotarsal synostosis
    • vertebral fusion with carpal coalition
Homo sapiens (human)
DOID:0090117
  • thiamine-responsive megaloblastic anemia syndrome
  • Aliases:
    • Rogers syndrome
    • THMD1
    • TRMA
    • thiamine metabolism dysfunction syndrome 1
    • thiamine-responsive anaemia syndrome
    • thiamine-responsive anemia syndrome
    • thiamine-responsive megaloblastic anaemia syndrome
    • thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness
    • thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
    • thiamine-responsive myelodysplasia
Homo sapiens (human)
DOID:0090119
  • ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
  • Aliases:
    • AEC syndrome
    • Hay-Wells syndrome
    • ankyloblepharon-ectodermal defects-cleft lip and palate syndrome
Homo sapiens (human)
DOID:0090122
  • aromatase excess syndrome
  • Aliases:
    • AEXS
    • familial hyperestrogenism
    • hereditary prepubertal gynecomastia
    • increased aromatase activity
Homo sapiens (human)
DOID:0090126
  • branched-chain keto acid dehydrogenase kinase deficiency
  • Aliases:
    • BCKDK deficiency
    • BCKDKD
    • autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
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: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
Mus musculus (house mouse)
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
Rattus norvegicus (Norway rat)
DOID:0090130
  • cortical dysplasia-focal epilepsy syndrome
  • Aliases:
    • CDFE syndrome
    • CDFES
    • PTHSL1
    • Pitt-Hopkins-like syndrome-1
Homo sapiens (human)
DOID:0090132
  • complex cortical dysplasia with other brain malformations 7
  • Aliases:
    • CDCBM7
    • polymicrogyria due to TUBB2B mutation
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:0090139
  • cortisone reductase deficiency
  • Aliases:
    • CORTRD
Mus musculus (house mouse)
DOID:0090139
  • cortisone reductase deficiency
  • Aliases:
    • CORTRD
Homo sapiens (human)
DOID:0090140
  • cortisone reductase deficiency 2
  • Aliases:
    • CORTRD2
Homo sapiens (human)
DOID:0090141
  • cortisone reductase deficiency 1
  • Aliases:
    • CORTRD1
Homo sapiens (human)
DOID:0090141
  • cortisone reductase deficiency 1
  • Aliases:
    • CORTRD1
Mus musculus (house mouse)
DOID:0090142
  • cystathioninuria
  • Aliases:
    • cystathionase deficiency
    • cystathione gamma-lyase deficiency syndrome
    • gamma-cystathionase deficiency
Homo sapiens (human)
DOID:0090145
  • dopamine beta-hydroxylase deficiency
  • Aliases:
    • congenital dopamine beta-hydroxylase deficiency
    • noradrenaline deficiency
    • norepinephrine deficiency
Saccharomyces cerevisiae S288C
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:0110006
  • 3-methylglutaconic aciduria type 4
  • Aliases:
    • 3-methylglutaconic aciduria type IV
    • MGA type IV
    • MGA4
    • MGCA4
Homo sapiens (human)
DOID:0110008
  • achromatopsia 3
  • Aliases:
    • ACHM1
    • ACHM3
    • Pingelapese blindness
    • RMCH1
    • rod monochromacy 1
    • rod monochromatism 1
Homo sapiens (human)
DOID:0110011
  • advanced sleep phase syndrome 1
  • Aliases:
    • FASPS1
    • familial advanced sleep phase syndrome 1
Homo sapiens (human)
DOID:0110011
  • advanced sleep phase syndrome 1
  • Aliases:
    • FASPS1
    • familial advanced sleep phase syndrome 1
Mus musculus (house mouse)
DOID:0110011
  • advanced sleep phase syndrome 1
  • Aliases:
    • FASPS1
    • familial advanced sleep phase syndrome 1
Rattus norvegicus (Norway rat)

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Last updated: August 19, 2024