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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 6951 - 6975 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0060300
  • complement component 7 deficiency
Mus musculus (house mouse)
DOID:0070114
  • Niemann-Pick disease type C2
  • Aliases:
    • NPC2
Mus musculus (house mouse)
DOID:0050717
  • methylmalonic aciduria and homocystinuria type cblF
  • Aliases:
    • Cobalamin F deficiency
    • MAHCF
Mus musculus (house mouse)
DOID:0070201
  • Miyoshi muscular dystrophy 3
  • Aliases:
    • MMD3
    • Miyoshi myopathy 3
Mus musculus (house mouse)
DOID:0060781
  • congenital secretory sodium diarrhea 3
  • Aliases:
    • congenital secretory sodium diarrhea 3 syndromic
    • congenital secretory sodium diarrhea 3 with or without other congenital anomalies
    • congenital secretory sodium diarrhoea 3
    • congenital secretory sodium diarrhoea 3 syndromic
    • congenital secretory sodium diarrhoea 3 with or without other congenital anomalies
Mus musculus (house mouse)
DOID:1040
  • chronic lymphocytic leukemia
  • Aliases:
    • B-cell chronic lymphocytic leukaemia
    • B-cell chronic lymphocytic leukemia
    • CLL
    • chronic lymphatic leukaemia
    • chronic lymphatic leukemia
    • chronic lymphocytic leukaemia
    • lymphoplasmacytic leukaemia
    • lymphoplasmacytic leukemia
Mus musculus (house mouse)
DOID:0060019
  • coronin-1A deficiency
Mus musculus (house mouse)
DOID:0090056
  • dystonia 12
Mus musculus (house mouse)
DOID:0110629
  • Wolfram syndrome 1
  • Aliases:
    • DIDMOAD
    • WFS1
    • diabetes mellitus AND insipidus with optic atrophy AND deafness
Mus musculus (house mouse)
DOID:0112277
  • immunodeficiency 79
  • Aliases:
    • IMD79
Mus musculus (house mouse)
DOID:0050833
  • orotic aciduria
Mus musculus (house mouse)
DOID:0050834
  • CHARGE syndrome
  • Aliases:
    • CHARGE association
Mus musculus (house mouse)
DOID:0080281
  • schizophrenia 19
Mus musculus (house mouse)
DOID:0110425
  • dilated cardiomyopathy 1A
  • Aliases:
    • CDCD1
    • dilated cardiomyopathy with conduction defect 1
    • familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Mus musculus (house mouse)
DOID:0110725
  • neuronal ceroid lipofuscinosis 10
  • Aliases:
    • CLN10
    • Cathepsin D deficiency
    • neuronal ceroid lipofuscinosis cathepsin D-deficient
    • neuronal ceroid lipofuscinosis due to cathepsin D deficiency
Mus musculus (house mouse)
DOID:0050793
  • short QT syndrome
Mus musculus (house mouse)
DOID:0070139
  • autosomal recessive cutis laxa type IC
  • Aliases:
    • ARCL1C
    • autosomal recessive cutis laxa type 1C
Mus musculus (house mouse)
DOID:0080545
  • hyper IgE syndrome
  • Aliases:
    • hyper immunoglobulin E syndrome
Mus musculus (house mouse)
DOID:0110574
  • autosomal dominant nonsyndromic deafness 4B
  • Aliases:
    • DFNA4B
    • autosomal dominant deafness 4B
Mus musculus (house mouse)
DOID:0110354
  • retinitis pigmentosa 19
  • Aliases:
    • RP19
Mus musculus (house mouse)
DOID:687
  • hepatoblastoma
Mus musculus (house mouse)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Mus musculus (house mouse)
DOID:0070413
  • autosomal recessive spinocerebellar ataxia 32
  • Aliases:
    • SCAR32
Mus musculus (house mouse)
DOID:0111296
  • generalized epilepsy with febrile seizures plus 10
  • Aliases:
    • GEFS+10
    • GEFSP10
    • generalised epilepsy with febrile seizures plus 10
    • generalised epilepsy with febrile seizures plus type 10
    • generalized epilepsy with febrile seizures plus type 10
Mus musculus (house mouse)
DOID:0080330
  • cold-induced sweating syndrome 2
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