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 4201 - 4225 of 4621 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:14761
  • Greig cephalopolysyndactyly syndrome
  • Aliases:
    • polysyndactyly with peculiars skull shape
Homo sapiens (human)
DOID:0070435
  • hyperphosphatasia with impaired intellectual development syndrome 3
  • Aliases:
    • GPIBD8
    • HPMRS3
    • glycosylphosphatidylinositol biosynthesis defect 8
    • hyperphosphatasia with mental retardation syndrome 3
Homo sapiens (human)
DOID:2846
  • bruxism
  • Aliases:
    • Bruxism - teeth grinding
    • Grinding teeth
    • Teeth grinding
    • sleep related bruxism
Homo sapiens (human)
DOID:0070436
  • hyperphosphatasia with impaired intellectual development syndrome 4
  • Aliases:
    • GPIBD62
    • HPMRS6
    • glycosylphosphatidylinositol biosynthesis defect 62
    • hyperphosphatasia with mental retardation syndrome 6
Homo sapiens (human)
DOID:14449
  • mixed gonadal dysgenesis
Homo sapiens (human)
DOID:0111272
  • occipital horn syndrome
  • Aliases:
    • EDS IX
    • Ehlers-Danlos syndrome type 9
    • Ehlers-Danlos syndrome type IX
    • X-linked cutis laxa
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:0110388
  • retinitis pigmentosa 10
  • Aliases:
    • RP10
Homo sapiens (human)
DOID:0080570
  • congenital disorder of glycosylation It
  • Aliases:
    • congenital disorder of glycosylation 1t
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:0060413
  • chromosome 22q11.2 deletion syndrome, distal
  • Aliases:
    • DiGeorge syndrome and Velocardiofacial syndrome
    • distal 22q11.2 microdeletion syndrome
Homo sapiens (human)
DOID:0060337
  • CEDNIK syndrome
  • Aliases:
    • cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
Homo sapiens (human)
DOID:0112347
  • hereditary spastic paraplegia 84
  • Aliases:
    • SPG84
    • spastic paraplegia 84 autosomal recessive
Homo sapiens (human)
DOID:0060484
  • EAST syndrome
  • Aliases:
    • SeSAME syndrome
    • epilepsy, ataxia, sensorineural deafness and tubulopathy
    • seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
Homo sapiens (human)
DOID:0080342
  • Simpson-Golabi-Behmel syndrome type 2
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:0112216
  • developmental and epileptic encephalopathy 80
  • Aliases:
    • DEE80
    • GPIBD20
    • early infantile epileptic encephalopathy 80
    • glycosylphosphatidylinositol biosynthesis defect 20
Homo sapiens (human)
DOID:0081223
  • glycosylphosphatidylinositol biosynthesis defect 16
  • Aliases:
    • Intellectual developmental disorder, autosomal recessive 62
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:0080207
  • CAKUT2
  • Aliases:
    • Congenital anomalies of the kidney and urinary tract 2
Homo sapiens (human)
DOID:0080138
  • multiple congenital anomalies-hypotonia-seizures syndrome 1
Homo sapiens (human)
DOID:0070434
  • hyperphosphatasia with impaired intellectual development syndrome 2
  • Aliases:
    • GPIBD6
    • HPMRS2
    • glycosylphosphatidylinositol biosynthesis defect 6
    • hyperphosphatasia with mental retardation syndrome 2
Homo sapiens (human)
DOID:4022
  • ureterocele
Homo sapiens (human)
DOID:0080283
  • developmental and epileptic encephalopathy 55
  • Aliases:
    • DEE55
    • GPIBD14
    • early infantile epileptic encephalopathy 55
    • glycosylphosphatidylinositol biosynthesis defect 14
Homo sapiens (human)

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024