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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 10176 - 10200 of 15957 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism Source
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Mus musculus (house mouse)
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Homo sapiens (human)
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Rattus norvegicus (Norway rat)
DOID:0060286
  • combined oxidative phosphorylation deficiency
Homo sapiens (human)
DOID:0060286
  • combined oxidative phosphorylation deficiency
Mus musculus (house mouse)
DOID:0111479
  • combined oxidative phosphorylation deficiency 8
  • Aliases:
    • COXPD8
Homo sapiens (human)
DOID:0111487
  • combined oxidative phosphorylation deficiency 7
  • Aliases:
    • COXPD7
    • severe C12ORF65-related COXPD
    • severe C12ORF65-related combined oxidative phosphorylation defect
Homo sapiens (human)
DOID:0111502
  • combined oxidative phosphorylation deficiency 6
  • Aliases:
    • COXPD6
    • Mitochondrial encephalomyopathy due to COXPD6
    • Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
    • severe X-linked mitochondrial encephalomyopathy
Homo sapiens (human)
DOID:0111502
  • combined oxidative phosphorylation deficiency 6
  • Aliases:
    • COXPD6
    • Mitochondrial encephalomyopathy due to COXPD6
    • Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
    • severe X-linked mitochondrial encephalomyopathy
Mus musculus (house mouse)
DOID:0070430
  • combined oxidative phosphorylation deficiency 57
  • Aliases:
    • COXPD57
Homo sapiens (human)
DOID:0070425
  • combined oxidative phosphorylation deficiency 52
  • Aliases:
    • COXPD52
Homo sapiens (human)
DOID:0112137
  • combined oxidative phosphorylation deficiency 51
  • Aliases:
    • COXPD51
Homo sapiens (human)
DOID:0111473
  • combined oxidative phosphorylation deficiency 5
  • Aliases:
    • COXPD5
    • hypotonia with lactic acidemia and hyperammonemia
Homo sapiens (human)
DOID:0112115
  • combined oxidative phosphorylation deficiency 46
  • Aliases:
    • COXPD46
Homo sapiens (human)
DOID:0112113
  • combined oxidative phosphorylation deficiency 45
  • Aliases:
    • COXPD45
Saccharomyces cerevisiae S288C
DOID:0111494
  • combined oxidative phosphorylation deficiency 4
  • Aliases:
    • COXPD4
Mus musculus (house mouse)
DOID:0111494
  • combined oxidative phosphorylation deficiency 4
  • Aliases:
    • COXPD4
Rattus norvegicus (Norway rat)
DOID:0111499
  • combined oxidative phosphorylation deficiency 37
  • Aliases:
    • COXPD37
Mus musculus (house mouse)
DOID:0111464
  • combined oxidative phosphorylation deficiency 35
  • Aliases:
    • COXPD35
Homo sapiens (human)
DOID:0111495
  • combined oxidative phosphorylation deficiency 33
  • Aliases:
    • COXPD33
Homo sapiens (human)
DOID:0111492
  • combined oxidative phosphorylation deficiency 32
  • Aliases:
    • COXPD32
Homo sapiens (human)
DOID:0111471
  • combined oxidative phosphorylation deficiency 30
  • Aliases:
    • COXPD30
Homo sapiens (human)
DOID:0111468
  • combined oxidative phosphorylation deficiency 25
  • Aliases:
    • COXPD25
Homo sapiens (human)
DOID:0111485
  • combined oxidative phosphorylation deficiency 24
  • Aliases:
    • COXPD24
Homo sapiens (human)
DOID:0111498
  • combined oxidative phosphorylation deficiency 22
  • Aliases:
    • COXPD22
Rattus norvegicus (Norway rat)
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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

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Last updated: December 9, 2024