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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 51 - 75 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0110057
  • amelogenesis imperfecta type 2A1
  • Aliases:
    • AI2A1
    • amelogenesis imperfecta pigmented hypomaturation type 1
    • amelogenesis imperfecta type IIA1
Homo sapiens (human)
DOID:3457
  • invasive lobular carcinoma
  • Aliases:
    • Lobular carcinoma
    • Lobular carcinoma of breast
    • Lobular carcinoma of the breast
Homo sapiens (human)
DOID:0060022
  • CD40 ligand deficiency
  • Aliases:
    • HIGMX-1
    • X-linked hyper-IgM syndrome
Homo sapiens (human)
DOID:9513
  • plasma cell leukemia
  • Aliases:
    • plasma cell leukaemia
    • plasmacytic leukaemia
    • plasmacytic leukemia
Homo sapiens (human)
DOID:2959
  • hyperimmunoglobulin syndrome
Homo sapiens (human)
DOID:0060023
  • immunodeficiency with hyper IgM type 3
  • Aliases:
    • CD40 deficiency
    • HIGM3
    • hyper-IgM syndrome due to CD40 deficiency
    • type 3 hyper-IgM immunodeficiency
Homo sapiens (human)
DOID:0060838
  • isolated microphthalmia 7
  • Aliases:
    • MCOP7
Homo sapiens (human)
DOID:0080591
  • Klippel-Feil syndrome 3
Homo sapiens (human)
DOID:0110984
  • Joubert syndrome 15
  • Aliases:
    • JBTS15
Homo sapiens (human)
DOID:0080291
  • developmental and epileptic encephalopathy 59
  • Aliases:
    • DEE59
    • early infantile epileptic encephalopathy 59
Homo sapiens (human)
DOID:0090141
  • cortisone reductase deficiency 1
  • Aliases:
    • CORTRD1
Homo sapiens (human)
DOID:0112333
  • pontocerebellar hypoplasia type 16
  • Aliases:
    • PCH16
Homo sapiens (human)
DOID:0110448
  • dilated cardiomyopathy 1HH
  • Aliases:
    • CMD1HH
Homo sapiens (human)
DOID:0080097
  • myofibrillar myopathy 6
Homo sapiens (human)
DOID:0110815
  • hereditary spastic paraplegia 64
  • Aliases:
    • SPG64
    • autosomal recessive spastic paraplegia 64
    • autosomal recessive spastic paraplegia type 64
Homo sapiens (human)
DOID:0080558
  • congenital disorder of glycosylation If
  • Aliases:
    • congenital disorder of glycosylation 1f
Homo sapiens (human)
DOID:0081188
  • autosomal recessive intellectual developmental disorder 14
Homo sapiens (human)
DOID:0070157
  • hereditary sensory and autonomic neuropathy type 1C
  • Aliases:
    • HSAN1C
    • hereditary sensory and autonomic neuropathy type IC
Homo sapiens (human)
DOID:0110151
  • Charcot-Marie-Tooth disease type 1C
  • Aliases:
    • CMT slow nerve conduction type C
    • CMT1C
    • Charcot-Marie-Tooth neuropathy type 1C
    • HMSN IC
    • HMSN1C
    • neuropathy hereditary motor and sensory type 1C
Homo sapiens (human)
DOID:0070332
  • multiple mitochondrial dysfunctions syndrome 6
Homo sapiens (human)
DOID:0080733
  • Ehlers-Danlos syndrome dermatosparaxis type
Homo sapiens (human)
DOID:0111444
  • progressive myoclonus epilepsy 4
  • Aliases:
    • AMRF
    • EPM4
    • Myoclonus-nephropathy syndrome
    • action myoclonus-renal failure syndrome
Homo sapiens (human)
DOID:0112216
  • developmental and epileptic encephalopathy 80
  • Aliases:
    • DEE80
    • GPIBD20
    • early infantile epileptic encephalopathy 80
    • glycosylphosphatidylinositol biosynthesis defect 20
Homo sapiens (human)
DOID:0112152
  • CHIME syndrome
  • Aliases:
    • PIGL-CDG
    • Zunich neuroectodermal syndrome
    • Zunich-Kaye syndrome
    • coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
    • congenital disorder of glycosylation due to PIGL deficiency
    • neuroectodermal dysplasia, CHIME type
    • neuroectodermal syndrome, Zunich type
Homo sapiens (human)
DOID:0111046
  • platelet-type bleeding disorder 10
  • Aliases:
    • BDPLT10
    • CD36 deficiency
    • platelet glycoprotein IV deficiency
Homo sapiens (human)
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Last updated: April 7, 2025