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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 3701 - 3725 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0080786
  • Brown-Vialetto-Van Laere syndrome 2
Homo sapiens (human)
DOID:0060019
  • coronin-1A deficiency
Homo sapiens (human)
DOID:0110057
  • amelogenesis imperfecta type 2A1
  • Aliases:
    • AI2A1
    • amelogenesis imperfecta pigmented hypomaturation type 1
    • amelogenesis imperfecta type IIA1
Homo sapiens (human)
DOID:0060807
  • syndromic X-linked intellectual disability Najm type
  • Aliases:
    • MICPCH
    • X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
    • mental retardation and microcephaly with pontine and cerebellar hypoplasia
Homo sapiens (human)
DOID:0111665
  • ectodermal dysplasia 10B
  • Aliases:
    • ECTD10B
    • ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive
Homo sapiens (human)
DOID:3033
  • colon signet ring adenocarcinoma
  • Aliases:
    • Colonic Signet Ring adenocarcinoma
Homo sapiens (human)
DOID:0110967
  • brachydactyly type A4
  • Aliases:
    • BDA4
    • Temtamy type brachydactyly
    • brachymesophalangy II and V
Homo sapiens (human)
DOID:10609
  • rickets
  • Aliases:
    • active rickets
Homo sapiens (human)
DOID:13042
  • persistent fetal circulation syndrome
  • Aliases:
    • Fetal circulation
    • Persistent fetal circulation
    • Persistent foetal circulation
    • congenital alveolar capillary dysplasia with misalignment of pulmonary veins
    • persistent foetal circulation syndrome
    • persistent pulmonary hypertension of the newborn
Homo sapiens (human)
DOID:0080333
  • aortic valve disease 1
Homo sapiens (human)
DOID:0111717
  • isolated cryptophthalmia
  • Aliases:
    • CRYPTOP
    • unilateral or bilateral isolated cryptophthalmos
Homo sapiens (human)
DOID:0112103
  • Sotos syndrome 1
  • Aliases:
    • SOTOS1
Homo sapiens (human)
DOID:0070396
  • progressive leukoencephalopathy with ovarian failure
Homo sapiens (human)
DOID:0070256
  • congenital disorder of glycosylation type IId
  • Aliases:
    • CDG IId
    • CDG2D
    • CDGIId
Homo sapiens (human)
DOID:0111138
  • congenital generalized lipodystrophy type 4
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
    • congenital generalised lipodystrophy type 4
    • generalised congenital lipodystrophy type 4
    • generalised congenital lipodystrophy with myopathy
    • generalized congenital lipodystrophy type 4
    • generalized congenital lipodystrophy with myopathy
Homo sapiens (human)
DOID:0110250
  • cataract 16 multiple types
  • Aliases:
    • CTRCT16
Homo sapiens (human)
DOID:0080691
  • Noonan syndrome-like disorder with loose anagen hair
Homo sapiens (human)
DOID:0112062
  • immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
  • Aliases:
    • IMD73C
Homo sapiens (human)
DOID:2913
  • acute pancreatitis
Homo sapiens (human)
DOID:0110536
  • autosomal recessive nonsyndromic deafness 91
  • Aliases:
    • DFNB91
    • autosomal recessive deafness 91
Homo sapiens (human)
DOID:1148
  • polydactyly
  • Aliases:
    • postaxial polydactyly
Homo sapiens (human)
DOID:0112080
  • nuclear type mitochondrial complex I deficiency 32
  • Aliases:
    • MC1DN32
Homo sapiens (human)
DOID:0050775
  • schneckenbecken dysplasia
Homo sapiens (human)
DOID:636
  • central pontine myelinolysis
  • Aliases:
    • osmotic demyelination syndrome
Homo sapiens (human)
DOID:13141
  • uveitis
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: February 17, 2025