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 6826 - 6850 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:4138
  • bile duct disease
  • Aliases:
    • bile duct disorder
    • disorder of bile duct
Homo sapiens (human)
DOID:3540
  • choroid plexus cancer
  • Aliases:
    • tumor of choroid plexus
    • tumor of the Choroid Plexus
Homo sapiens (human)
DOID:0050958
  • spinocerebellar ataxia type 7
Homo sapiens (human)
DOID:3660
  • wheat allergy
  • Aliases:
    • allergy to wheat
    • wheat allergic reaction
Homo sapiens (human)
DOID:0060774
  • congenital diarrhea
Homo sapiens (human)
DOID:3125
  • multiple endocrine neoplasia
  • Aliases:
    • Multiple endocrine adenomatosis
    • Multiple endocrine neoplasia syndrome
Homo sapiens (human)
DOID:0080197
  • congenital muscular dystrophy with cataracts and intellectual disability
Homo sapiens (human)
DOID:3978
  • extrinsic cardiomyopathy
Homo sapiens (human)
DOID:14761
  • Greig cephalopolysyndactyly syndrome
  • Aliases:
    • polysyndactyly with peculiars skull shape
Homo sapiens (human)
DOID:3301
  • gonadoblastoma
Homo sapiens (human)
DOID:14449
  • mixed gonadal dysgenesis
Homo sapiens (human)
DOID:0112275
  • developmental and epileptic encephalopathy 93
  • Aliases:
    • DEE93
    • IECEE3
    • infantile or early childhood epileptic encephalopathy 3
Homo sapiens (human)
DOID:12397
  • entropion
Homo sapiens (human)
DOID:0090057
  • X-linked dystonia-parkinsonism
Homo sapiens (human)
DOID:1838
  • Menkes disease
  • Aliases:
    • COPPER TRANSPORT DISEASE
    • Menkes kinky-hair syndrome
    • steely hair syndrome
Homo sapiens (human)
DOID:0110388
  • retinitis pigmentosa 10
  • Aliases:
    • RP10
Homo sapiens (human)
DOID:0111933
  • phosphoglycerate kinase 1 deficiency
  • Aliases:
    • GSD due to phosphoglycerate kinase 1 deficiency
    • PGK1 deficiency
    • glycogen storage disease due to phosphoglycerate kinase 1 deficiency
    • glycogenosis due to phosphoglycerate kinase 1 deficiency
Homo sapiens (human)
DOID:0111196
  • X-linked distal spinal muscular atrophy 3
  • Aliases:
    • ATP7A-related distal motor neuropathy
    • DSMAX
    • SMAX3
    • X-linked dHMN3
    • X-linked dSMA3
    • X-linked distal hereditary motor neuropathy type 3
    • X-linked recessive distal spinal muscular atrophy
Homo sapiens (human)
DOID:0060728
  • NGLY1-deficiency
  • Aliases:
    • NGLY1-CDDG
    • congenital disorder of deglycosylation
    • congenital disorder of glycosylation type Iv
    • deficiency of N-glycanase 1
Homo sapiens (human)
DOID:0080570
  • congenital disorder of glycosylation It
  • Aliases:
    • congenital disorder of glycosylation 1t
Homo sapiens (human)
DOID:2920
  • membranoproliferative glomerulonephritis
  • Aliases:
    • Lobular glomerulonephritis
    • chronic glomerulonephritis, lobular
Homo sapiens (human)
DOID:0060462
  • Desbuquois dysplasia
  • Aliases:
    • Desbuquois syndrome
    • micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
Homo sapiens (human)
DOID:0111953
  • immunodeficiency 23
  • Aliases:
    • CID due to PGM3 deficiency
    • IMD23
    • PGM3-CDG
    • PGM3-related congenital disorder of glycosylation
    • combined immunodeficiency due to PGM3 deficiency
Homo sapiens (human)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Homo sapiens (human)
DOID:0080342
  • Simpson-Golabi-Behmel syndrome type 2
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: August 19, 2024