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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 7151 - 7175 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:484
  • vascular hemostatic disease
Homo sapiens (human)
DOID:0070168
  • spermatogenic failure 3
  • Aliases:
    • SPGF3
Mus musculus (house mouse)
DOID:0080425
  • developmental and epileptic encephalopathy 47
  • Aliases:
    • DEE47
    • early infantile epileptic encephalopathy 47
Homo sapiens (human)
DOID:0111499
  • combined oxidative phosphorylation deficiency 37
  • Aliases:
    • COXPD37
Mus musculus (house mouse)
DOID:0111566
  • familial isolated trichomegaly
  • Aliases:
    • TCMGLY
    • long eyelashes
Homo sapiens (human)
DOID:0112108
  • myofibrillar myopathy 10
  • Aliases:
    • MFM10
Mus musculus (house mouse)
DOID:0081126
  • DeSanto-Shinawi syndrome
  • Aliases:
    • Chromosome 10p12-p11 deletion syndrome
    • Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
    • Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
    • WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Mus musculus (house mouse)
DOID:0070013
  • Seckel syndrome 2
  • Aliases:
    • SCKL2
    • Seckel-type dwarfism 2
    • microcephalic primordial dwarfism 2
Mus musculus (house mouse)
DOID:3594
  • choriocarcinoma
  • Aliases:
    • Chorioepithelioma
Homo sapiens (human)
DOID:0090086
  • hypogonadotropic hypogonadism 6 with or without anosmia
Homo sapiens (human)
DOID:4769
  • pleuropulmonary blastoma
Homo sapiens (human)
DOID:0050794
  • multiple synostoses syndrome
Homo sapiens (human)
DOID:0081319
  • multiple synostoses syndrome 3
Homo sapiens (human)
DOID:10486
  • intestinal atresia
Homo sapiens (human)
DOID:0050331
  • lacrimoauriculodentodigital syndrome 1
  • Aliases:
    • LEVY-HOLLISTER SYNDROME
    • Lacrimo-auriculo-dento-digital syndrome 1
Homo sapiens (human)
DOID:0111549
  • aplasia of lacrimal and salivary glands
  • Aliases:
    • ALSG
    • congenital absence of lacrimal puncta and salivary glands
Homo sapiens (human)
DOID:0081372
  • lacrimoauriculodentodigital syndrome 3
  • Aliases:
    • Lacrimo-auriculo-dento-digital syndrome 3
Homo sapiens (human)
DOID:0112083
  • nuclear type mitochondrial complex I deficiency 2
  • Aliases:
    • MC1DN2
Mus musculus (house mouse)
DOID:0112125
  • alpha-thalassemia myelodysplasia syndrome
  • Aliases:
    • ATMDS
    • acquired HbH disease
    • acquired hemoglobin H disease
    • alpha-thalassemia-myelodysplastic syndrome
Mus musculus (house mouse)
DOID:0110030
  • alpha thalassemia-X-linked intellectual disability syndrome
  • Aliases:
    • ATR, nondeletion type
    • ATR-X syndrome
    • alpha-thalassemia/mental retardation syndrome nondeletion type
Mus musculus (house mouse)
DOID:0080982
  • X-linked mental retardation-hypotonic facies syndrome-1
Mus musculus (house mouse)
DOID:0080634
  • nanophthalmos
Mus musculus (house mouse)
DOID:12960
  • acrocephalosyndactylia
  • Aliases:
    • Apert syndrome
Homo sapiens (human)
DOID:0111337
  • Jackson-Weiss syndrome
  • Aliases:
    • JWS
    • craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
Homo sapiens (human)
DOID:14705
  • Pfeiffer syndrome
  • Aliases:
    • acrocephalosyndactylia type V
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