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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 526 - 550 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0060572
  • Ritscher-Schinzel syndrome 2
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: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:0060575
  • 3MC syndrome 1
Homo sapiens (human)
DOID:0060576
  • 3MC syndrome 2
Homo sapiens (human)
DOID:0060577
  • 3MC syndrome 3
Homo sapiens (human)
DOID:0060578
  • Noonan syndrome 1
  • Aliases:
    • NS1
Homo sapiens (human)
DOID:0060581
  • Noonan syndrome 3
  • Aliases:
    • NS3
Homo sapiens (human)
DOID:0060582
  • Noonan syndrome 4
  • Aliases:
    • NS4
Homo sapiens (human)
DOID:0060583
  • Noonan syndrome 5
  • Aliases:
    • NS5
Homo sapiens (human)
DOID:0060584
  • Noonan syndrome 6
  • Aliases:
    • NS6
Homo sapiens (human)
DOID:0060587
  • Noonan syndrome 9
  • Aliases:
    • NS9
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:0060591
  • WHIM syndrome
  • Aliases:
    • WHIMS
    • warts, hypogammaglobulinemia, infections, and myelokathexis
    • warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Homo sapiens (human)
DOID:0060597
  • atypical chronic myeloid leukemia, BCR-ABL1 negative
  • Aliases:
    • aCML
    • atypical CML
    • atypical chronic myeloid leukaemia
    • atypical chronic myeloid leukaemia BCR-ABL1 negative
    • atypical chronic myeloid leukemia BCR-ABL1 negative
    • subacute myeloid leukemia
Homo sapiens (human)
DOID:0060599
  • Nance-Horan syndrome
Homo sapiens (human)
DOID:0060601
  • alpha-2-plasmin inhibitor deficiency
  • Aliases:
    • antiplasmin defiency
    • plasmin inhibitor deficiency
Homo sapiens (human)
DOID:0060602
  • alpha-methylacyl-CoA racemase deficiency
  • Aliases:
    • AMACR deficiency
Homo sapiens (human)
DOID:0060603
  • isolated anhidrosis with normal sweat glands
  • Aliases:
    • Dann-Epstein-Sohar syndrome
Homo sapiens (human)
DOID:0060604
  • ankyloglossia
  • Aliases:
    • tongue-tie
Homo sapiens (human)
DOID:0060609
  • microcephalic osteodysplastic primordial dwarfism type II
  • Aliases:
    • Majewski osteodysplastic primordial dwarfism type II
    • osteodysplastic primordial dwarfism type II
Homo sapiens (human)
DOID:0060610
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • Aliases:
    • Berdon syndrome
    • Megacystis microcolon intestinal hypoperistalsis syndrome
    • megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH
    • visceral myopathy
Homo sapiens (human)
DOID:0060611
  • abdominal obesity-metabolic syndrome
Homo sapiens (human)
DOID:0060614
  • ulnar-mammary syndrome
  • Aliases:
    • Pallister ulnar-mammary syndrome
    • Schinzel syndrome
Homo sapiens (human)
DOID:0060639
  • permanent neonatal diabetes mellitus
  • Aliases:
    • PDMI
    • PNDM
    • permanent diabetes mellitus of infancy
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