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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 8701 - 8725 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0112072
  • nuclear type mitochondrial complex I deficiency 20
  • Aliases:
    • ACAD9 deficiency
    • Acyl-CoA dehydrogenase 9 deficiency
    • MC1DN20
    • mitochondrial complex 1 deficiency due to ACAD9 deficiency
Mus musculus (house mouse)
DOID:0060704
  • lymphoproliferative syndrome
  • Aliases:
    • Combined immunodeficiency due to ITK deficiency
Homo sapiens (human)
DOID:0112204
  • developmental and epileptic encephalopathy 68
  • Aliases:
    • DEE68
    • early infantile epileptic encephalopathy 68
Homo sapiens (human)
DOID:13366
  • Stiff-Person syndrome
  • Aliases:
    • Stiff-man syndrome
    • stiff man syndrome
Homo sapiens (human)
DOID:0050439
  • Usher syndrome
Homo sapiens (human)
DOID:9869
  • hereditary fructose intolerance syndrome
  • Aliases:
    • Fructosaemia
    • Fructose-1,6-bisphosphate aldolase B deficiency
    • Fructosemia
Homo sapiens (human)
DOID:0111123
  • nephronophthisis 15
  • Aliases:
    • NPHP15
Homo sapiens (human)
DOID:0111675
  • neurooculocardiogenitourinary syndrome
  • Aliases:
    • NOCGUS
Homo sapiens (human)
DOID:0110181
  • Charcot-Marie-Tooth disease axonal type 2Z
  • Aliases:
    • CMT2Z
    • Charcot-Marie-Tooth neuropathy type 2Z
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z
Homo sapiens (human)
DOID:4797
  • SM-AHNMD
  • Aliases:
    • systemic mastocytosis with associated clonal haematological non-mast cell lineage disease
    • systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
Mus musculus (house mouse)
DOID:0080082
  • nonsyndromic congenital nail disorder 4
  • Aliases:
    • HYPONYCHIA CONGENITA
    • anonychia congenita
Mus musculus (house mouse)
DOID:0112175
  • spermatogenic failure 47
  • Aliases:
    • SPGF47
Homo sapiens (human)
DOID:0070539
  • Halperin-Birk syndrome
  • Aliases:
    • HLBKS
    • NEDSOSB
    • NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
Homo sapiens (human)
DOID:0080242
  • syndromic X-linked mental retardation Hough type
Homo sapiens (human)
DOID:0050814
  • temtamy preaxial brachydactyly syndrome
  • Aliases:
    • PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Homo sapiens (human)
DOID:0080565
  • congenital disorder of glycosylation Im
  • Aliases:
    • DOLK-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1m
    • dolichol kinase deficiency
Homo sapiens (human)
DOID:0050570
  • congenital disorder of glycosylation type I
Homo sapiens (human)
DOID:0090052
  • dystonia 24
Mus musculus (house mouse)
DOID:0090015
  • Cenani-Lenz syndactyly syndrome
  • Aliases:
    • syndactyly type 7
Mus musculus (house mouse)
DOID:0110674
  • congenital myasthenic syndrome 17
  • Aliases:
    • CMS17
Mus musculus (house mouse)
DOID:0060757
  • sclerosteosis 2
  • Aliases:
    • SOST2
Mus musculus (house mouse)
DOID:0111962
  • combined immunodeficiency
Homo sapiens (human)
DOID:2344
  • polyclonal hypergammaglobulinemia
Homo sapiens (human)
DOID:0080202
  • adenoid cystic carcinoma
Homo sapiens (human)
DOID:1967
  • leiomyosarcoma
  • Aliases:
    • Leiomyosarcomas
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