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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 12476 - 12500 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:5813
  • purine nucleoside phosphorylase deficiency
  • Aliases:
    • PNP deficiency
    • Purine-Nucleoside Phosphorylase deficiency
    • deficiency of inosine phosphorylase
Homo sapiens (human)
DOID:0080390
  • nephrotic syndrome type 1
  • Aliases:
    • Finnish congenital nephrosis
Homo sapiens (human)
DOID:0080663
  • atrial standstill 2
Homo sapiens (human)
DOID:11516
  • hypertensive heart disease
Homo sapiens (human)
DOID:0081141
  • agammaglobulinemia 9
Drosophila melanogaster (fruit fly)
DOID:0080050
  • acromesomelic dysplasia, Maroteaux type
  • Aliases:
    • acromesomelic dysplasia-1
Homo sapiens (human)
DOID:0070316
  • Miura type epiphyseal chondrodysplasia
  • Aliases:
    • ECDM
    • tall stature-scoliosis-macrodactyly of the great toes syndrome
    • tall stature-scoliosis-macrodactyly of the halluces syndrome
Homo sapiens (human)
DOID:0050692
  • Brody myopathy
Homo sapiens (human)
DOID:11759
  • hypochromic anemia
  • Aliases:
    • ANEMIA HYPOCHROMIC
Homo sapiens (human)
DOID:9446
  • cholangitis
Homo sapiens (human)
DOID:0060584
  • Noonan syndrome 6
  • Aliases:
    • NS6
Homo sapiens (human)
DOID:14264
  • benign neonatal seizures
  • Aliases:
    • benign familial neonatal seizures
    • benign neonatal convulsions
Drosophila melanogaster (fruit fly)
DOID:0050635
  • alternating hemiplegia of childhood
  • Aliases:
    • AHC
Drosophila melanogaster (fruit fly)
DOID:863
  • nervous system disease
Drosophila melanogaster (fruit fly)
DOID:0111558
  • Charcot-Marie-Tooth disease type 2DD
  • Aliases:
    • ATP1A1-related CMT2
    • ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
    • CMT2DD
    • Charcot-Marie-Tooth disease, axonal, type 2DD
    • Charcot-Marie-Tooth neuropathy, type 2DD
Drosophila melanogaster (fruit fly)
DOID:0090056
  • dystonia 12
Drosophila melanogaster (fruit fly)
DOID:0070385
  • developmental and epileptic encephalopathy 99
  • Aliases:
    • DEE99
    • early infantile epileptic encephalopathy 99
Drosophila melanogaster (fruit fly)
DOID:4500
  • hypokalemia
  • Aliases:
    • hypopotassemia
    • potassium deficiency disorder
Drosophila melanogaster (fruit fly)
DOID:0070384
  • developmental and epileptic encephalopathy 98
  • Aliases:
    • DEE98
    • early infantile epileptic encephalopathy 98
Drosophila melanogaster (fruit fly)
DOID:0111182
  • familial hemiplegic migraine 2
  • Aliases:
    • FHM2
    • Familial hemiplegic migraine-2
    • MHP2
Drosophila melanogaster (fruit fly)
DOID:0111582
  • hereditary arterial and articular multiple calcification syndrome
  • Aliases:
    • CALJA
    • arterial calcification and distal joint calcification
    • arterial calcification due to CD73 deficiency
    • arterial calcification due to deficiency of CD73
    • calcification of joints and arteries
Homo sapiens (human)
DOID:0080411
  • familial adenomatous polyposis 3
Homo sapiens (human)
DOID:0070146
  • hereditary sensory neuropathy type 4
  • Aliases:
    • hereditary sensory neuropathy type IV
    • insensitivity to pain, congenital, with anhidrosis
Homo sapiens (human)
DOID:0080285
  • developmental and epileptic encephalopathy 58
  • Aliases:
    • DEE58
    • early infantile epileptic encephalopathy 58
Homo sapiens (human)
DOID:0080263
  • autosomal recessive nonsyndromic deafness 108
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