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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 4126 - 4150 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0060591
  • WHIM syndrome
  • Aliases:
    • WHIMS
    • warts, hypogammaglobulinemia, infections, and myelokathexis
    • warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Homo sapiens (human)
DOID:0060589
  • Yunis-Varon syndrome
  • Aliases:
    • cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
    • cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Homo sapiens (human)
DOID:0060587
  • Noonan syndrome 9
  • Aliases:
    • NS9
Homo sapiens (human)
DOID:0060584
  • Noonan syndrome 6
  • Aliases:
    • NS6
Homo sapiens (human)
DOID:0060583
  • Noonan syndrome 5
  • Aliases:
    • NS5
Homo sapiens (human)
DOID:0060582
  • Noonan syndrome 4
  • Aliases:
    • NS4
Homo sapiens (human)
DOID:0060581
  • Noonan syndrome 3
  • Aliases:
    • NS3
Homo sapiens (human)
DOID:0060578
  • Noonan syndrome 1
  • Aliases:
    • NS1
Homo sapiens (human)
DOID:0060577
  • 3MC syndrome 3
Homo sapiens (human)
DOID:0060576
  • 3MC syndrome 2
Homo sapiens (human)
DOID:0060575
  • 3MC syndrome 1
Homo sapiens (human)
DOID:0060574
  • von Willebrand's disease 2
  • Aliases:
    • VWD type 2
    • VWD2
    • von Willebrand disease type 2
    • von Willebrand disease type II
Homo sapiens (human)
DOID:0060573
  • von Willebrand's disease 1
  • Aliases:
    • VWD type 1
    • VWD1
    • von Willebrand disease type 1
    • von Willebrand disease type I
Homo sapiens (human)
DOID:0060572
  • Ritscher-Schinzel syndrome 2
Homo sapiens (human)
DOID:0060571
  • Ritscher-Schinzel syndrome 1
Homo sapiens (human)
DOID:0060569
  • hypertrichotic osteochondrodysplasia Cantu type
  • Aliases:
    • Cantu syndrome
Homo sapiens (human)
DOID:0060565
  • Ritscher-Schinzel syndrome
  • Aliases:
    • CCC dysplasia
    • craniocerebellocardiac dysplasia
Homo sapiens (human)
DOID:0060564
  • spinal disease
Homo sapiens (human)
DOID:0060563
  • Char syndrome
Homo sapiens (human)
DOID:0060560
  • lethal congenital contracture syndrome 2
  • Aliases:
    • LCCS2
    • multiple contracture syndrome, Israeli-Bedouin type
Homo sapiens (human)
DOID:0060558
  • lethal congenital contracture 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:0060550
  • ablepharon macrostomia syndrome
Homo sapiens (human)
DOID:0060549
  • Barber-Say syndrome
Homo sapiens (human)
DOID:0060546
  • Hermansky-Pudlak syndrome 8
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