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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 9401 - 9425 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:11249
  • vitamin K deficiency bleeding
  • Aliases:
    • deficiency of vitamin K
    • vitamin K deficiency
    • vitamin K deficiency hemorrhagic disease
Homo sapiens (human)
DOID:0112173
  • combined deficiency of vitamin K-dependent clotting factors 1
  • Aliases:
    • VKCFD1
Homo sapiens (human)
DOID:0080653
  • urolithiasis
Homo sapiens (human)
DOID:14766
  • renal agenesis
  • Aliases:
    • hereditary renal aplasia
    • hereditary urogenital adysplasia
    • renal adysplasia
    • renal aplasia
Homo sapiens (human)
DOID:0110660
  • congenital myasthenic syndrome 12
  • Aliases:
    • CMS12
    • congenital myasthenia 12 with tubular aggregates
Homo sapiens (human)
DOID:0111474
  • combined oxidative phosphorylation deficiency 1
  • Aliases:
    • COXPD1
    • early fatal progressive hepatoencephalopathy
    • hepatoencephalopathy due to COXPD1
    • hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Homo sapiens (human)
DOID:0111216
  • autosomal recessive centronuclear myopathy
  • Aliases:
    • AR-CNM
Homo sapiens (human)
DOID:4252
  • Alexander disease
  • Aliases:
    • Alexander's disease
Homo sapiens (human)
DOID:0070443
  • neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Homo sapiens (human)
DOID:0081263
  • neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
  • Aliases:
    • NEDMCR syndrome
Homo sapiens (human)
DOID:440
  • neuromuscular disease
Homo sapiens (human)
DOID:3049
  • Churg-Strauss syndrome
  • Aliases:
    • Allergic Granulomatous Angiitis
    • Allergic granulomatosis angiitis
    • Churg-Strauss vasculitis
Homo sapiens (human)
DOID:0080871
  • primary ovarian insufficiency 14
Homo sapiens (human)
DOID:0081320
  • multiple synostoses syndrome 4
Homo sapiens (human)
DOID:0060836
  • isolated microphthalmia 4
  • Aliases:
    • MCOP4
Homo sapiens (human)
DOID:0080589
  • Klippel-Feil syndrome 1
Homo sapiens (human)
DOID:0110217
  • Leber congenital amaurosis 17
  • Aliases:
    • LCA17
Homo sapiens (human)
DOID:0110970
  • brachydactyly type C
  • Aliases:
    • BDC
Homo sapiens (human)
DOID:0110977
  • brachydactyly type A1C
  • Aliases:
    • BDA1C
Homo sapiens (human)
DOID:0060931
  • developmental dysplasia of the hip 1
  • Aliases:
    • DDH1
Homo sapiens (human)
DOID:0050790
  • fibular hypoplasia and complex brachydactyly
  • Aliases:
    • Du Pan syndrome
    • acromesomelic dysplasia-2B
Homo sapiens (human)
DOID:0080051
  • acromesomelic dysplasia, Hunter-Thompson type
  • Aliases:
    • acromesomelic dwarfism
    • acromesomelic dysplasia-2C
Homo sapiens (human)
DOID:0081318
  • multiple synostoses syndrome 2
Homo sapiens (human)
DOID:0080052
  • acromesomelic dysplasia, Grebe type
  • Aliases:
    • acromesomelic dysplasia-2A
    • grebe chondrodysplasia
Homo sapiens (human)
DOID:0080788
  • proximal symphalangism 2
Homo sapiens (human)
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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