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 3251 - 3275 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:0111258
  • pentosuria
  • Aliases:
    • L-xylulose reductase deficiency
    • L-xylulosuria
    • PNTSU
    • essential pentosuria
    • xylitol dehydrogenase deficiency
Homo sapiens (human)
DOID:6620
  • X-linked hyper IgM syndrome
  • Aliases:
    • HIGM1
    • X-linked hyper-IgM immunodeficiency
    • XHIM
    • hyper-IgM immunodeficiency syndrome type 1
    • hyper-IgM syndrome 1
    • hyper-IgM syndrome type 1
    • immunodeficiency with hyper-IgM type 1
Homo sapiens (human)
DOID:12698
  • gynecomastia
Homo sapiens (human)
DOID:0081183
  • autosomal recessive intellectual developmental disorder 7
Homo sapiens (human)
DOID:8580
  • obsolete malignant histiocytosis
  • Aliases:
    • Stewart's granuloma
Homo sapiens (human)
DOID:0070260
  • congenital disorder of glycosylation type IIh
  • Aliases:
    • CDG IIh
    • CDG2H
    • CDGIIdh
    • COG8-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIh
    • Congenital disorder of glycosylation type 2h
Homo sapiens (human)
DOID:0080564
  • congenital disorder of glycosylation Il
  • Aliases:
    • congenital disorder of glycosylation 1l
Homo sapiens (human)
DOID:1934
  • dysostosis
Homo sapiens (human)
DOID:0110225
  • Brugada syndrome 8
  • Aliases:
    • BRGDA8
Homo sapiens (human)
DOID:1024
  • leprosy
Homo sapiens (human)
DOID:4791
  • supratentorial primitive neuroectodermal tumor
  • Aliases:
    • Supratentorial PNET
Homo sapiens (human)
DOID:4428
  • dyslexia
Homo sapiens (human)
DOID:1172
  • hyperlipoproteinemia type IV
  • Aliases:
    • Endogenous hyperlipidaemia
    • Fredrickson type IV Lipidemia
    • Fredrickson type IV hyperlipoproteinemia
    • Fredrickson type IV lipidaemia
    • VLDL hyperlipoproteinemia
    • familial hypertriglyceridemia
Homo sapiens (human)
DOID:3875
  • thrombophlebitis
  • Aliases:
    • Phlebitis and thrombophlebitis of superficial vessels of lower extremities
    • Superficial thrombophlebitis of leg
    • Thrombophlebitis of a superficial leg vein
    • Thrombophlebitis of superficial veins of lower extremity
Homo sapiens (human)
DOID:13068
  • renal osteodystrophy
  • Aliases:
    • renal rickets
Homo sapiens (human)
DOID:4971
  • myelofibrosis
  • Aliases:
    • Agnogenic myeloid metaplasia
    • Aleukemic myelosis
    • Megakaryocytic myelosclerosis
    • bone Marrow Fibrosis
    • myelosclerosis
    • primary myelofibrosis
Homo sapiens (human)
DOID:5608
  • dental pulp calcification
  • Aliases:
    • pulp calcification
    • pulp calcifications
    • pulpal calcifications
Homo sapiens (human)
DOID:0060432
  • chromosome 17p13.3 duplication syndrome
  • Aliases:
    • 17p13.3 duplication syndrome
    • 17p13.3 microduplication syndrome
    • chromosome 17p13.3 centromeric duplication syndrome
    • trisomy 17p13.3
Homo sapiens (human)
DOID:13911
  • achromatopsia
  • Aliases:
    • ACHM
    • Monochromatism
Homo sapiens (human)
DOID:0110754
  • type 1 diabetes mellitus 17
  • Aliases:
    • IDDM17
    • Insulin-Dependent Diabetes Mellitus 17
Homo sapiens (human)
DOID:0110823
  • hereditary spastic paraplegia 8
  • Aliases:
    • SPG8
    • autosomal dominant spastic paraplegia 8
    • autosomal dominant spastic paraplegia type 8
Homo sapiens (human)
DOID:3149
  • keratoacanthoma
Homo sapiens (human)
DOID:1240
  • leukemia
Homo sapiens (human)
DOID:0090061
  • familial cold autoinflammatory syndrome
  • Aliases:
    • FCAS
Homo sapiens (human)
DOID:0110569
  • autosomal dominant nonsyndromic deafness 44
  • Aliases:
    • DFNA44
    • autosomal dominant deafness 44
Homo sapiens (human)

About Release Notes Help Feedback

Click here to visit the beta site.


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