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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 401 - 425 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0060251
  • sclerosteosis
Homo sapiens (human)
DOID:0060253
  • scapuloperoneal myopathy
Homo sapiens (human)
DOID:0060254
  • Robinow syndrome
  • Aliases:
    • Robinow dwarfism
    • acral dysostosis with facial and genital abnormalities
    • fetal face syndrome
Homo sapiens (human)
DOID:0060256
  • Dowling-Degos disease
  • Aliases:
    • dark dot disease
    • reticular pigment anomaly of flexures
Homo sapiens (human)
DOID:0060257
  • dyschromatosis symmetrica hereditaria
  • Aliases:
    • reticulate acropigmentation of Dohi
Homo sapiens (human)
DOID:0060258
  • reticulate acropigmentation of Kitamura
  • Aliases:
    • RAPK
Homo sapiens (human)
DOID:0060259
  • renal-hepatic-pancreatic dysplasia
  • Aliases:
    • Ivemark's syndrome
Homo sapiens (human)
DOID:0060260
  • ptosis
  • Aliases:
    • blepharoptosis
    • drooping eyelid
Homo sapiens (human)
DOID:0060263
  • porencephaly
Homo sapiens (human)
DOID:0060264
  • pontocerebellar hypoplasia
  • Aliases:
    • PCH
Homo sapiens (human)
DOID:0060272
  • pontocerebellar hypoplasia type 3
Homo sapiens (human)
DOID:0060275
  • pontocerebellar hypoplasia type 6
Homo sapiens (human)
DOID:0060276
  • pontocerebellar hypoplasia type 7
Homo sapiens (human)
DOID:0060278
  • pontocerebellar hypoplasia type 9
Homo sapiens (human)
DOID:0060280
  • primary pigmented nodular adrenocortical disease
Homo sapiens (human)
DOID:0060284
  • paroxysmal nocturnal hemoglobinuria
Homo sapiens (human)
DOID:0060285
  • parietal foramina
  • Aliases:
    • Caitlin marks
    • enlarged parietal foramina
    • hereditary cranium bifidum
Homo sapiens (human)
DOID:0060286
  • combined oxidative phosphorylation deficiency
Homo sapiens (human)
DOID:0060287
  • cornea plana
  • Aliases:
    • flat cornea
Homo sapiens (human)
DOID:0060290
  • Ohdo syndrome, SBBYS variant
  • Aliases:
    • Say-Barber-Biesecker-Young-Simpson syndrome
    • blepharophimosis-intellectual disability syndrome, SBBYS type
Homo sapiens (human)
DOID:0060292
  • X-linked chondrodysplasia punctata 1
  • Aliases:
    • chondrodystrophia calcificans congenita
Homo sapiens (human)
DOID:0060295
  • complement component 2 deficiency
Homo sapiens (human)
DOID:0060296
  • congenital secretory chloride diarrhea 1
  • Aliases:
    • congenital chloride diarrhea finnish type
    • congenital chloride diarrhoea finnish type
    • congenital chloridorrhea
    • congenital secretory chloride diarrhoea 1
Homo sapiens (human)
DOID:0060297
  • complement component 4a deficiency
Homo sapiens (human)
DOID:0060298
  • complement component 4b deficiency
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