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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 5951 - 5975 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0070343
  • CSF1R-related brain malformation and osteopetrosis
  • Aliases:
    • osteoporosis and infantile neuroaxonal dystrophy
Homo sapiens (human)
DOID:0050462
  • Antley-Bixler syndrome with disordered steroidogenesis
  • Aliases:
    • trapezoidocephaly-synostosis syndrome
Homo sapiens (human)
DOID:0060278
  • pontocerebellar hypoplasia type 9
Homo sapiens (human)
DOID:0080959
  • arrhythmogenic right ventricular dysplasia 14
Homo sapiens (human)
DOID:0081175
  • short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Homo sapiens (human)
DOID:5031
  • adult pineal parenchymal tumor
  • Aliases:
    • adult Pineal Parenchymal neoplasm
Homo sapiens (human)
DOID:0081212
  • autosomal recessive intellectual developmental disorder 48
Homo sapiens (human)
DOID:0060841
  • isolated microphthalmia 8
  • Aliases:
    • MCOP8
Homo sapiens (human)
DOID:439
  • neuromuscular junction disease
Homo sapiens (human)
DOID:1171
  • hyperlipoproteinemia type V
  • Aliases:
    • Fredrickson type V lipaemia
    • familial hyperlipoproteinemia type V
    • familial type 5 hyperlipoproteinemia
Homo sapiens (human)
DOID:14749
  • methylmalonic acidemia
  • Aliases:
    • methylmalonic aciduria
Homo sapiens (human)
DOID:0111947
  • immunodeficiency 21
  • Aliases:
    • DCML
    • GATA2 deficiency
    • IMD21
    • MonoMAC
    • combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
    • dendritic cell, monocyte, B and NK lymphoid deficiency
    • monocyte-B-natural killer-dendritic cell deficiency syndrome
    • monocytopenia and mycobacterial infection syndrome
    • monocytopenia with susceptibility to infections
Homo sapiens (human)
DOID:3265
  • chronic granulomatous disease
  • Aliases:
    • Bridges-Good syndrome
    • CGD
    • Congenital dysphagocytosis
    • Quie syndrome
Homo sapiens (human)
DOID:0111524
  • autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
  • Aliases:
    • PEOB5
    • autosomal recessive progressive external ophthalmoplegia 5
Homo sapiens (human)
DOID:2741
  • bilirubin metabolic disorder
  • Aliases:
    • hereditary hyperbilirubinemia
    • hyperbilirubinemia
Homo sapiens (human)
DOID:5138
  • leiomyomatosis
Homo sapiens (human)
DOID:0070283
  • primary autosomal recessive microcephaly 13
  • Aliases:
    • MCPH13
Homo sapiens (human)
DOID:0110591
  • autosomal dominant nonsyndromic deafness 7
  • Aliases:
    • DFNA7
    • autosomal dominant deafness 7
Homo sapiens (human)
DOID:0081179
  • autosomal recessive intellectual developmental disorder 3
Homo sapiens (human)
DOID:0111631
  • familial erythrocytosis 7
  • Aliases:
    • ECYT7
    • alpha-globin type erythrocytosis
    • alpha-globin type polycythemia
Homo sapiens (human)
DOID:0050169
  • cutaneous lupus erythematosus
Homo sapiens (human)
DOID:418
  • systemic scleroderma
  • Aliases:
    • Scleroderma
    • Scleroderma syndrome
    • progressive systemic sclerosis
    • systemic sclerosis
Homo sapiens (human)
DOID:2512
  • nevoid basal cell carcinoma syndrome
  • Aliases:
    • Gorlin syndrome
    • NBCCS
    • basal cell nevus syndrome
Homo sapiens (human)
DOID:10881
  • hand, foot and mouth disease
  • Aliases:
    • Vesicular stomatitis and exanthem
Homo sapiens (human)
DOID:0060264
  • pontocerebellar hypoplasia
  • Aliases:
    • PCH
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