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 13826 - 13850 of 15957 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0060750
  • familial temporal lobe epilepsy 3
  • Aliases:
    • FMTLE
    • familial mesial temporal lobe epilepsy
Saccharomyces cerevisiae S288C
DOID:0060750
  • familial temporal lobe epilepsy 3
  • Aliases:
    • FMTLE
    • familial mesial temporal lobe epilepsy
Homo sapiens (human)
DOID:0060750
  • familial temporal lobe epilepsy 3
  • Aliases:
    • FMTLE
    • familial mesial temporal lobe epilepsy
Caenorhabditis elegans
DOID:0060748
  • familial temporal lobe epilepsy 1
  • Aliases:
    • ETL1
    • partial epilepsy with auditory features
Homo sapiens (human)
DOID:0060748
  • familial temporal lobe epilepsy 1
  • Aliases:
    • ETL1
    • partial epilepsy with auditory features
Mus musculus (house mouse)
DOID:0060748
  • familial temporal lobe epilepsy 1
  • Aliases:
    • ETL1
    • partial epilepsy with auditory features
Rattus norvegicus (Norway rat)
DOID:0060747
  • Duane-radial ray syndrome
  • Aliases:
    • DR syndrome
    • Duane anomaly with radial ray abnormalities and deafness
    • Okihiro syndrome
    • acrorenocular syndrome
Homo sapiens (human)
DOID:0060747
  • Duane-radial ray syndrome
  • Aliases:
    • DR syndrome
    • Duane anomaly with radial ray abnormalities and deafness
    • Okihiro syndrome
    • acrorenocular syndrome
Mus musculus (house mouse)
DOID:0060746
  • basal laminar drusen
  • Aliases:
    • cuticular drusen
    • drusen of bruch membrane
    • early adult-onset grouped drusen
Homo sapiens (human)
DOID:0060746
  • basal laminar drusen
  • Aliases:
    • cuticular drusen
    • drusen of bruch membrane
    • early adult-onset grouped drusen
Mus musculus (house mouse)
DOID:0060745
  • Doyne honeycomb retinal dystrophy
  • Aliases:
    • DHRD
    • Doyne honeycomb degeneration of retina
Homo sapiens (human)
DOID:0060745
  • Doyne honeycomb retinal dystrophy
  • Aliases:
    • DHRD
    • Doyne honeycomb degeneration of retina
Mus musculus (house mouse)
DOID:0060743
  • methylmalonic acidemia cblB type
  • Aliases:
    • methylmalonic aciduria cblB type
    • methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
Homo sapiens (human)
DOID:0060741
  • methylmalonic acidemia due to transcobalamin receptor defect
  • Aliases:
    • methylmalonic acidemia, TCblR type
    • methylmalonic aciduria due to transcobalamin receptor defect
Rattus norvegicus (Norway rat)
DOID:0060741
  • methylmalonic acidemia due to transcobalamin receptor defect
  • Aliases:
    • methylmalonic acidemia, TCblR type
    • methylmalonic aciduria due to transcobalamin receptor defect
Homo sapiens (human)
DOID:0060741
  • methylmalonic acidemia due to transcobalamin receptor defect
  • Aliases:
    • methylmalonic acidemia, TCblR type
    • methylmalonic aciduria due to transcobalamin receptor defect
Mus musculus (house mouse)
DOID:0060740
  • methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  • Aliases:
    • methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
    • methylmalonic aciduria mut type
    • vitamin B12-unresponsive methylmalonic aciduria
Homo sapiens (human)
DOID:0060740
  • methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  • Aliases:
    • methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
    • methylmalonic aciduria mut type
    • vitamin B12-unresponsive methylmalonic aciduria
Mus musculus (house mouse)
DOID:0060738
  • junctional epidermolysis bullosa non-Herlitz type
  • Aliases:
    • GABEB
    • JEB-nH gen
    • JEN-nH
    • generalized atrophic benign epidermolysis bullosa
    • generalized junctional epidermolysis bullosa, non-Herlitz type
    • junctional epidermolysis bullosa generalisata mitis
    • junctional epidermolysis bullosa, Disentis type
Homo sapiens (human)
DOID:0060738
  • junctional epidermolysis bullosa non-Herlitz type
  • Aliases:
    • GABEB
    • JEB-nH gen
    • JEN-nH
    • generalized atrophic benign epidermolysis bullosa
    • generalized junctional epidermolysis bullosa, non-Herlitz type
    • junctional epidermolysis bullosa generalisata mitis
    • junctional epidermolysis bullosa, Disentis type
Mus musculus (house mouse)
DOID:0060738
  • junctional epidermolysis bullosa non-Herlitz type
  • Aliases:
    • GABEB
    • JEB-nH gen
    • JEN-nH
    • generalized atrophic benign epidermolysis bullosa
    • generalized junctional epidermolysis bullosa, non-Herlitz type
    • junctional epidermolysis bullosa generalisata mitis
    • junctional epidermolysis bullosa, Disentis type
Rattus norvegicus (Norway rat)
DOID:0060738
  • junctional epidermolysis bullosa non-Herlitz type
  • Aliases:
    • GABEB
    • JEB-nH gen
    • JEN-nH
    • generalized atrophic benign epidermolysis bullosa
    • generalized junctional epidermolysis bullosa, non-Herlitz type
    • junctional epidermolysis bullosa generalisata mitis
    • junctional epidermolysis bullosa, Disentis type
Caenorhabditis elegans
DOID:0060738
  • junctional epidermolysis bullosa non-Herlitz type
  • Aliases:
    • GABEB
    • JEB-nH gen
    • JEN-nH
    • generalized atrophic benign epidermolysis bullosa
    • generalized junctional epidermolysis bullosa, non-Herlitz type
    • junctional epidermolysis bullosa generalisata mitis
    • junctional epidermolysis bullosa, Disentis type
Drosophila melanogaster (fruit fly)
DOID:0060737
  • junctional epidermolysis bullosa Herlitz type
  • Aliases:
    • Herlitz type epidermolysis bullosa junctionalis
    • Herlitz-Pearson-type epidermolysis bullosa
    • JEB-H
    • JEB-Herlitz type
    • epidermolysis bullosa letalis
    • junctional epidermolysis bullosa generalisata gravis
    • junctional epidermolysis bullosa, Herlitz-Pearson type
Drosophila melanogaster (fruit fly)
DOID:0060737
  • junctional epidermolysis bullosa Herlitz type
  • Aliases:
    • Herlitz type epidermolysis bullosa junctionalis
    • Herlitz-Pearson-type epidermolysis bullosa
    • JEB-H
    • JEB-Herlitz type
    • epidermolysis bullosa letalis
    • junctional epidermolysis bullosa generalisata gravis
    • junctional epidermolysis bullosa, Herlitz-Pearson type
Caenorhabditis elegans

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