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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 501 - 525 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0060479
  • Shwachman-Diamond syndrome
  • Aliases:
    • Shwachman syndrome
    • Shwachman-Bodian-Diamond syndrome
    • Shwachman-Diamond type metaphyseal dysplasia
    • pancreatic insufficiency and bone marrow dysfunction
Homo sapiens (human)
DOID:0060480
  • left ventricular noncompaction
  • Aliases:
    • left ventricular hypertrabeculation
Homo sapiens (human)
DOID:0060482
  • oculoauricular syndrome
Homo sapiens (human)
DOID:0060486
  • Perry syndrome
  • Aliases:
    • parkinsonism with alveolar hypoventilation and mental depression
Homo sapiens (human)
DOID:0060488
  • Pitt-Hopkins syndrome
Homo sapiens (human)
DOID:0060490
  • Schimke immuno-osseous dysplasia
  • Aliases:
    • Schimke immunoosseous dysplasia
    • Schimke syndrome
    • immunoosseous dysplasia Schimke type
    • spondyloepiphyseal dysplasia - nephrotic syndrome
Homo sapiens (human)
DOID:0060491
  • SPOAN syndrome
  • Aliases:
    • spastic paraplegia, optic atropy, and neuropathy
    • spastic paraplegia, optic atropy, and neuropathy syndrome
Homo sapiens (human)
DOID:0060496
  • respiratory allergy
  • Aliases:
    • airway allergy
Homo sapiens (human)
DOID:0060500
  • drug allergy
Homo sapiens (human)
DOID:0060532
  • latex allergy
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:0060540
  • Hermansky-Pudlak syndrome 2
Homo sapiens (human)
DOID:0060545
  • Hermansky-Pudlak syndrome 7
Homo sapiens (human)
DOID:0060546
  • Hermansky-Pudlak syndrome 8
Homo sapiens (human)
DOID:0060549
  • Barber-Say syndrome
Homo sapiens (human)
DOID:0060550
  • ablepharon macrostomia syndrome
Homo sapiens (human)
DOID:0060556
  • Kufor-Rakeb syndrome
  • Aliases:
    • autosomal recessive Parkinson disease 9
    • autosomal recessive juvenile onset Parkinson disease 9
Homo sapiens (human)
DOID:0060558
  • lethal congenital contracture syndrome
Homo sapiens (human)
DOID:0060560
  • lethal congenital contracture syndrome 2
  • Aliases:
    • LCCS2
    • multiple contracture syndrome, Israeli-Bedouin type
Homo sapiens (human)
DOID:0060563
  • Char syndrome
Homo sapiens (human)
DOID:0060564
  • spinal disease
Homo sapiens (human)
DOID:0060565
  • Ritscher-Schinzel syndrome
  • Aliases:
    • CCC dysplasia
    • craniocerebellocardiac dysplasia
Homo sapiens (human)
DOID:0060569
  • hypertrichotic osteochondrodysplasia Cantu type
  • Aliases:
    • Cantu syndrome
Homo sapiens (human)
DOID:0060571
  • Ritscher-Schinzel syndrome 1
Homo sapiens (human)
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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