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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 9226 - 9250 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0070210
  • hereditary lymphedema IA
  • Aliases:
    • LMPH1A
Mus musculus (house mouse)
DOID:0110412
  • retinitis pigmentosa 23
  • Aliases:
    • RP23
Mus musculus (house mouse)
DOID:0110540
  • autosomal recessive nonsyndromic deafness 98
  • Aliases:
    • DFNB98
    • autosomal recessive deafness 98
Mus musculus (house mouse)
DOID:0080286
  • spinocerebellar ataxia 44
Mus musculus (house mouse)
DOID:12120
  • pulmonary alveolar proteinosis
Mus musculus (house mouse)
DOID:0112192
  • tetraamelia syndrome 1
  • Aliases:
    • TETAMS1
    • tetra-amelia syndrome 1
Mus musculus (house mouse)
DOID:13976
  • peptic esophagitis
  • Aliases:
    • Peptic reflux disease
    • Reflux oesophagitis
    • reflux esophagitis
Mus musculus (house mouse)
DOID:0110805
  • hereditary spastic paraplegia 53
  • Aliases:
    • SPG53
    • autosomal recessive spastic paraplegia 53
    • autosomal recessive spastic paraplegia type 53
Mus musculus (house mouse)
DOID:636
  • central pontine myelinolysis
  • Aliases:
    • osmotic demyelination syndrome
Mus musculus (house mouse)
DOID:900
  • hepatopulmonary syndrome
Mus musculus (house mouse)
DOID:0070398
  • hypomyelinating leukodystrophy 15
  • Aliases:
    • HLD15
Mus musculus (house mouse)
DOID:3209
  • junctional epidermolysis bullosa
  • Aliases:
    • congenital junctional epidermolysis bullosa
Mus musculus (house mouse)
DOID:0080109
  • infantile myofibromatosis
  • Aliases:
    • lipofibromatosis
Mus musculus (house mouse)
DOID:0081179
  • autosomal recessive intellectual developmental disorder 3
Mus musculus (house mouse)
DOID:0050560
  • Walker-Warburg syndrome
  • Aliases:
    • HARD syndrome
    • cerebroocular dysplasia-muscular dystrophy syndrome
Mus musculus (house mouse)
DOID:0060696
  • hyperekplexia 1
  • Aliases:
    • HKPX1
Mus musculus (house mouse)
DOID:0050636
  • familial visceral amyloidosis
  • Aliases:
    • AMYLOIDOSIS, FAMILIAL RENAL
    • German type amyloidosis
    • OSTERTAG TYPE AMYLOIDOSIS
    • systemic nonneuropathic amyloidosis
Mus musculus (house mouse)
DOID:3429
  • inclusion body myositis
Mus musculus (house mouse)
DOID:0050884
  • triosephosphate isomerase deficiency
  • Aliases:
    • Triose phosphate-isomerase deficiency
Mus musculus (house mouse)
DOID:0070389
  • developmental and epileptic encephalopathy 103
  • Aliases:
    • DEE103
    • early infantile epileptic encephalopathy 103
Mus musculus (house mouse)
DOID:0081211
  • autosomal recessive intellectual developmental disorder 47
Mus musculus (house mouse)
DOID:8692
  • myeloid leukemia
  • Aliases:
    • Non-Lymphocytic Leukemia
    • leukaemia myelogenous
    • leukemia myelogenous
    • myeloid granulocytic leukaemia
    • myeloid granulocytic leukemia
    • myeloid leukaemia
Mus musculus (house mouse)
DOID:0060601
  • alpha-2-plasmin inhibitor deficiency
  • Aliases:
    • antiplasmin defiency
    • plasmin inhibitor deficiency
Mus musculus (house mouse)
DOID:0080442
  • developmental and epileptic encephalopathy 41
  • Aliases:
    • DEE41
    • early infantile epileptic encephalopathy 41
Mus musculus (house mouse)
DOID:3211
  • lysosomal storage disease
  • Aliases:
    • disorder of lysosomal enzyme
    • inborn lysosomal enzyme disorder
    • lysosomal storage metabolism disorder
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