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 October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 8451 - 8475 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:680
  • tauopathy
Homo sapiens (human)
DOID:0060602
  • alpha-methylacyl-CoA racemase deficiency
  • Aliases:
    • AMACR deficiency
Homo sapiens (human)
DOID:0111068
  • congenital bile acid synthesis defect 4
  • Aliases:
    • CBAS4
    • intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid
    • trihydroxycoprostanic acid in bile
Homo sapiens (human)
DOID:0111626
  • D-glyceric aciduria
  • Aliases:
    • D-glycerate kinase deficiency
    • D-glyceric acidemia
    • D-glycericacidemia
    • deficiency of glycerate kinase
    • non ketotic hyperglycinemia syndrome
Mus musculus (house mouse)
DOID:0080138
  • multiple congenital anomalies-hypotonia-seizures syndrome 1
Homo sapiens (human)
DOID:3659
  • sialuria
Mus musculus (house mouse)
DOID:4451
  • renal carcinoma
  • Aliases:
    • carcinoma of kidney
    • kidney carcinoma
Homo sapiens (human)
DOID:0112171
  • wrinkly skin syndrome
  • Aliases:
    • WSS
Homo sapiens (human)
DOID:0070134
  • autosomal recessive cutis laxa type IIA
  • Aliases:
    • ARCL2A
Homo sapiens (human)
DOID:0110942
  • autosomal recessive osteopetrosis 1
  • Aliases:
    • OPTB1
    • autosomal recessive Albers-Schonberg disease
    • infantile malignant osteopetrosis 1
Homo sapiens (human)
DOID:0111167
  • Dyggve-Melchior-Clausen disease
  • Aliases:
    • DMC disease
    • pseudo-Morquio disease type I
Mus musculus (house mouse)
DOID:0060247
  • Smith-McCort dysplasia
Mus musculus (house mouse)
DOID:0081225
  • autosomal recessive intellectual developmental disorder 64
Mus musculus (house mouse)
DOID:0080267
  • autosomal dominant nonsyndromic deafness 71
Mus musculus (house mouse)
DOID:0112217
  • developmental and epileptic encephalopathy 81
  • Aliases:
    • DEE81
    • early infantile epileptic encephalopathy 81
Mus musculus (house mouse)
DOID:0060869
  • late-onset retinal degeneration
  • Aliases:
    • LORD
    • autosomal dominant late-onset retinal degeneration
Mus musculus (house mouse)
DOID:0080620
  • familial glucocorticoid deficiency
Homo sapiens (human)
DOID:11371
  • functional diarrhea
  • Aliases:
    • functional diarrhoea
Homo sapiens (human)
DOID:2384
  • Wernicke encephalopathy
  • Aliases:
    • Wernicke's disease
    • Wernicke's encephalopathy
Homo sapiens (human)
DOID:1984
  • rectal benign neoplasm
  • Aliases:
    • Rectal tumor
    • neoplasm of rectum
    • rectum neoplasm
Homo sapiens (human)
DOID:10112
  • sleeping sickness
  • Aliases:
    • African sleeping sickness
    • African trypanosomiasis
Homo sapiens (human)
DOID:0080330
  • cold-induced sweating syndrome 2
Homo sapiens (human)
DOID:0110224
  • Brugada syndrome 7
  • Aliases:
    • BRGDA7
Mus musculus (house mouse)
DOID:0060290
  • Ohdo syndrome, SBBYS variant
  • Aliases:
    • Say-Barber-Biesecker-Young-Simpson syndrome
    • blepharophimosis-intellectual disability syndrome, SBBYS type
Homo sapiens (human)
DOID:0080537
  • hypermanganesemia with dystonia 2
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 v4.1.0

Last updated: December 9, 2024