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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 9451 - 9475 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0050645
  • arterial tortuosity syndrome
Mus musculus (house mouse)
DOID:5394
  • prolactinoma
  • Aliases:
    • PITUITARY ADENOMA, PROLACTIN-SECRETING
    • Prolactinoma of Pituitary gland
    • familial prolactinoma
Mus musculus (house mouse)
DOID:0060233
  • cardiofaciocutaneous syndrome
  • Aliases:
    • CFC syndrome
    • cardio-facial-cutaneous syndrome
Mus musculus (house mouse)
DOID:11830
  • myopia
  • Aliases:
    • near vision
    • near-sightedness
    • short-sightedness
Mus musculus (house mouse)
DOID:0080234
  • Clark-Baraitser syndrome
  • Aliases:
    • Baraitser syndrome
    • CLABARS
    • autosomal dominant intellectual disability 49
    • autosomal dominant mental retardation 49
Mus musculus (house mouse)
DOID:0050575
  • D-2-hydroxyglutaric aciduria
Mus musculus (house mouse)
DOID:0111899
  • X-linked thrombophilia due to factor IX defect
  • Aliases:
    • THPH8
Mus musculus (house mouse)
DOID:0110373
  • retinitis pigmentosa 61
  • Aliases:
    • RP61
Mus musculus (house mouse)
DOID:0080642
  • Middle East respiratory syndrome
Mus musculus (house mouse)
DOID:6726
  • fibrillary astrocytoma
  • Aliases:
    • Fibrillary Astrocytic tumors
Mus musculus (house mouse)
DOID:0070133
  • autosomal recessive cutis laxa type IB
  • Aliases:
    • ARCL1B
Mus musculus (house mouse)
DOID:0111447
  • progressive myoclonus epilepsy 7
  • Aliases:
    • EPM7
    • MEAK
    • Myoclonus epilepsy and ataxia due to potassium channel mutation
    • PME type 7
    • Progressive myoclonic epilepsy due to KV3.1 deficiency
    • Progressive myoclonus epilepsy type 7
Mus musculus (house mouse)
DOID:0060765
  • autosomal dominant Robinow syndrome 2
  • Aliases:
    • DRS2
Mus musculus (house mouse)
DOID:0111551
  • neurogenic scapuloperoneal syndrome Kaeser type
  • Aliases:
    • Kaeser syndrome
    • Stark-Kaeser syndrome
    • scapuloperoneal syndrome type Kaeser
    • scapuloperoneal syndrome, neurogenic, Kaeser type
Mus musculus (house mouse)
DOID:863
  • nervous system disease
Mus musculus (house mouse)
DOID:0112204
  • developmental and epileptic encephalopathy 68
  • Aliases:
    • DEE68
    • early infantile epileptic encephalopathy 68
Mus musculus (house mouse)
DOID:8440
  • ileus
  • Aliases:
    • Ileus of intestine
Mus musculus (house mouse)
DOID:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Mus musculus (house mouse)
DOID:0080451
  • developmental and epileptic encephalopathy 29
  • Aliases:
    • DEE29
    • early infantile epileptic encephalopathy 29
Mus musculus (house mouse)
DOID:0111298
  • familial febrile seizures 8
  • Aliases:
    • FEB8
    • familial febrile convulsions 8
Mus musculus (house mouse)
DOID:0111043
  • glycogen storage disease IXc
  • Aliases:
    • GSD type 9C
    • GSD type IXc
    • GSD9C
    • glycogen storage disease type 9C
    • glycogen storage disease type IXc
    • glycogenosis type 9C
    • glycogenosis type IXc
Mus musculus (house mouse)
DOID:4248
  • coronary stenosis
  • Aliases:
    • Coronary artery stenosis
Mus musculus (house mouse)
DOID:0050855
  • renal fibrosis
Mus musculus (house mouse)
DOID:0111974
  • immunodeficiency 59
  • Aliases:
    • IMD59
    • granulocytopenia with immunoglobin abnormality
    • immunodeficiency 59 and hypoglycemia
Mus musculus (house mouse)
DOID:870
  • neuropathy
  • Aliases:
    • peripheral neuropathy
Mus musculus (house mouse)
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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