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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:0060759
  • immunodeficiency with hyper IgM type 5
  • Aliases:
    • HIGM5
    • hyper-IgM syndrome 5
    • hyper-IgM syndrome due to UNG deficiency
    • hyper-IgM syndrome due to uracil N-glycosylase
Saccharomyces cerevisiae S288C
DOID:0060757
  • sclerosteosis 2
  • Aliases:
    • SOST2
Homo sapiens (human)
DOID:0060757
  • sclerosteosis 2
  • Aliases:
    • SOST2
Mus musculus (house mouse)
DOID:0060756
  • sclerosteosis 1
  • Aliases:
    • SOST1
Mus musculus (house mouse)
DOID:0060756
  • sclerosteosis 1
  • Aliases:
    • SOST1
Rattus norvegicus (Norway rat)
DOID:0060756
  • sclerosteosis 1
  • Aliases:
    • SOST1
Homo sapiens (human)
DOID:0060754
  • familial temporal lobe epilepsy 8
  • Aliases:
    • ETL8
Homo sapiens (human)
DOID:0060752
  • familial temporal lobe epilepsy 5
  • Aliases:
    • ETL5
Homo sapiens (human)
DOID:0060752
  • familial temporal lobe epilepsy 5
  • Aliases:
    • ETL5
Saccharomyces cerevisiae S288C
DOID:0060752
  • familial temporal lobe epilepsy 5
  • Aliases:
    • ETL5
Mus musculus (house mouse)
DOID:0060751
  • familial temporal lobe epilepsy 7
  • Aliases:
    • ETL7
Homo sapiens (human)
DOID:0060751
  • familial temporal lobe epilepsy 7
  • Aliases:
    • ETL7
Mus musculus (house mouse)
DOID:0060751
  • familial temporal lobe epilepsy 7
  • Aliases:
    • ETL7
Rattus norvegicus (Norway rat)
DOID:0060750
  • familial temporal lobe epilepsy 3
  • Aliases:
    • FMTLE
    • familial mesial temporal lobe epilepsy
Drosophila melanogaster (fruit fly)
DOID:0060750
  • familial temporal lobe epilepsy 3
  • Aliases:
    • FMTLE
    • familial mesial temporal lobe epilepsy
Mus musculus (house mouse)
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)
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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: December 9, 2024