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 3201 - 3225 of 4621 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism
DOID:0080123
  • mitochondrial DNA depletion syndrome 4b
  • Aliases:
    • mitochondrial neurogastrointestinal encephalopathy syndrome
Homo sapiens (human)
DOID:0080124
  • mitochondrial DNA depletion syndrome 5
  • Aliases:
    • succinate-CoA ligase deficiency
Homo sapiens (human)
DOID:0080127
  • mitochondrial DNA depletion syndrome 8a
  • Aliases:
    • RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Homo sapiens (human)
DOID:0070331
  • mitochondrial DNA depletion syndrome 8b
  • Aliases:
    • mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related
Homo sapiens (human)
DOID:0080128
  • mitochondrial DNA depletion syndrome 9
  • Aliases:
    • fatal infantile lactic acidosis
Homo sapiens (human)
DOID:0070329
  • mitochondrial DNA depletion syndrome
  • Aliases:
    • mtDNA depletion syndrome
Homo sapiens (human)
DOID:0060536
  • mitochondrial complex I deficiency
  • Aliases:
    • isolated NADH-CoQ reductase deficiency
    • isolated NADH-coenzyme Q reductase deficiency
    • isolated NADH-ubiquinone reductase deficiency
    • isolated mitochondrial respiratory chain complex I deficiency
Homo sapiens (human)
DOID:0060537
  • mitochondrial complex II deficiency
  • Aliases:
    • isolated mitochondrial respiratory chain complex II deficiency
    • isolated succinate-CoQ reductase deficiency
    • isolated succinate-coenzyme Q reductase deficiency
    • isolated succinate-ubiquinone reductase deficiency
Homo sapiens (human)
DOID:890
  • mitochondrial encephalomyopathy
Homo sapiens (human)
DOID:700
  • mitochondrial metabolism disease
Homo sapiens (human)
DOID:699
  • mitochondrial myopathy
  • Aliases:
    • mitochondrial cytopathy
Homo sapiens (human)
DOID:0111277
  • mitochondrial trifunctional protein deficiency
  • Aliases:
    • MTPD
    • TFP deficiency
    • TFPD
Homo sapiens (human)
DOID:61
  • mitral valve disease
  • Aliases:
    • Mitral RH valve dis.
    • Rheumatic mitral insufficiency
    • Rheumatic mitral valve changes
    • Rheumatic mitral valve regurgitation
    • chronic rheumatic mitral valve
    • disease of mitral valve
    • rheumatic disease of mitral valve
    • rheumatic mitral valve incompetence
Homo sapiens (human)
DOID:11502
  • mitral valve insufficiency
  • Aliases:
    • Congenital insufficiency of mitral valve
    • Mitral valve incompetence
    • congenital mitral insufficiency
    • congenital mitral regurgitation
    • mitral regurgitation
Homo sapiens (human)
DOID:988
  • mitral valve prolapse
  • Aliases:
    • Barlow's syndrome
    • floppy mitral valve
Homo sapiens (human)
DOID:1754
  • mitral valve stenosis
  • Aliases:
    • Mitral stenosis
Homo sapiens (human)
DOID:3492
  • mixed connective tissue disease
  • Aliases:
    • Connective tissue disease overlap syndrome
    • mixed collagen vascular disease
Homo sapiens (human)
DOID:3306
  • mixed germ cell cancer
  • Aliases:
    • mixed germ cell neoplasm
    • mixed germ cell tumor
    • mixed germ cell tumour
    • mixed teratoma and seminoma
Homo sapiens (human)
DOID:5076
  • mixed glioma
  • Aliases:
    • mixed Neuroglial tumor
    • mixed gliomas
Homo sapiens (human)
DOID:14449
  • mixed gonadal dysgenesis
Homo sapiens (human)
DOID:7912
  • mixed oligodendroglioma-astrocytoma
  • Aliases:
    • WHO grade II mixed glioma
Homo sapiens (human)
DOID:0080302
  • mixed sleep apnea
  • Aliases:
    • complex sleep apnea
Homo sapiens (human)
DOID:5709
  • mixed-type liposarcoma
Homo sapiens (human)
DOID:8867
  • molluscum contagiosum
Homo sapiens (human)
DOID:0111164
  • molybdenum cofactor deficiency type A
  • Aliases:
    • MOCOD type A
    • MOCODA
    • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
    • molybdenum cofactor deficiency complementation group A
Homo sapiens (human)

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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: August 19, 2024