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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:0060278
  • pontocerebellar hypoplasia type 9
Homo sapiens (human)
DOID:0060280
  • primary pigmented nodular adrenocortical disease
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)
DOID:0060299
  • complement component 6 deficiency
Homo sapiens (human)
DOID:0060300
  • complement component 7 deficiency
Homo sapiens (human)
DOID:0060301
  • type I complement component 8 deficiency
Homo sapiens (human)
DOID:0060302
  • type II complement component 8 deficiency
Homo sapiens (human)
DOID:0060303
  • complement component 9 deficiency
Homo sapiens (human)
DOID:0060304
  • dyschromatosis universalis hereditaria
Homo sapiens (human)
DOID:0060305
  • megalocornea
  • Aliases:
    • anterior megalophthalmos
    • congenital anterior megalophthalmia
Homo sapiens (human)
DOID:0060306
  • Meier-Gorlin syndrome
  • Aliases:
    • ear-patella-short stature syndrome
Homo sapiens (human)
DOID:0060307
  • autosomal dominant intellectual developmental disorder
  • Aliases:
    • autosomal dominant mental retardation
    • autosomal dominant non-syndromic mental retardation
Homo sapiens (human)
DOID:0060308
  • autosomal recessive intellectual developmental disorder
  • Aliases:
    • autosomal recessive mental retardation
    • autosomal recessive non-syndromic mental retardation
Homo sapiens (human)
DOID:0060309
  • syndromic X-linked intellectual disability
  • Aliases:
    • syndromic X-linked mental retardation
Homo sapiens (human)
DOID:0060318
  • acute promyelocytic leukemia
  • Aliases:
    • acute myeloblastic leukaemia type 3
    • acute myeloblastic leukemia type 3
    • acute myeloid leukaemia M3
    • acute myeloid leukemia M3
    • acute promyelocytic leukaemia
Homo sapiens (human)
DOID:0060319
  • cardiac arrest
  • Aliases:
    • cardiopulmonary arrest
    • circulatory arrest
Homo sapiens (human)
DOID:0060322
  • mastoiditis
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