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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 8626 - 8650 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0110657
  • congenital myasthenic syndrome 8
  • Aliases:
    • CMS8
    • congenital myasthenic syndrome 8 with pre- and postsynaptic defects
    • congenital myasthenic syndrome due to agrin deficiency
Rattus norvegicus (Norway rat)
DOID:0080693
  • Noonan syndrome-like disorder with loose anagen hair 2
Rattus norvegicus (Norway rat)
DOID:11088
  • asphyxia neonatorum
  • Aliases:
    • Asphyxia - birth
    • Asphyxia, in liveborn infant
    • Birth asphyxia
    • postnatal asphyxia
Rattus norvegicus (Norway rat)
DOID:0080428
  • developmental and epileptic encephalopathy 45
  • Aliases:
    • DEE45
    • early infantile epileptic encephalopathy 45
Homo sapiens (human)
DOID:8986
  • narcolepsy
  • Aliases:
    • Narcolepsy, without cataplexy
    • paroxysmal sleep
Rattus norvegicus (Norway rat)
DOID:0060611
  • abdominal obesity-metabolic syndrome
Rattus norvegicus (Norway rat)
DOID:1924
  • hypogonadism
Rattus norvegicus (Norway rat)
DOID:0111334
  • congenital leptin deficiency
  • Aliases:
    • LEPD
    • leptin deficiency or dysfunction
    • obesity due to congenital leptin deficiency
Rattus norvegicus (Norway rat)
DOID:0080471
  • developmental and epileptic encephalopathy 92
Homo sapiens (human)
DOID:0080447
  • developmental and epileptic encephalopathy 43
  • Aliases:
    • DEE43
    • early infantile epileptic encephalopathy 43
Homo sapiens (human)
DOID:3355
  • fibrosarcoma
  • Aliases:
    • Fibrocytic tumor
    • fibrosarcoma of soft tissue
    • fibrous tissue neoplasm
Rattus norvegicus (Norway rat)
DOID:0090018
  • autosomal dominant familial periodic fever
  • Aliases:
    • FHF
    • FPF
    • TNF receptor associated periodic syndrome
    • TRAPS
    • familial Hibernian fever
    • hibernian fever
    • tumor necrosis factor receptor associated periodic syndrome
Rattus norvegicus (Norway rat)
DOID:9478
  • postpartum depression
  • Aliases:
    • Maternity blues
    • postnatal depression
Homo sapiens (human)
DOID:0111292
  • idiopathic generalized epilepsy 10
  • Aliases:
    • EIG10
Homo sapiens (human)
DOID:2749
  • glycogen storage disease Ia
Rattus norvegicus (Norway rat)
DOID:0110722
  • neuronal ceroid lipofuscinosis 7
  • Aliases:
    • CLN7
Homo sapiens (human)
DOID:0060944
  • episodic kinesigenic dyskinesia 3
Homo sapiens (human)
DOID:0070123
  • congenital nongoitrous hypothyroidism 4
  • Aliases:
    • CHNG4
    • isolated thyrotropin deficiency
Rattus norvegicus (Norway rat)
DOID:0080672
  • fibrochondrogenesis 1
Rattus norvegicus (Norway rat)
DOID:0111510
  • Marshall syndrome
  • Aliases:
    • MRSHS
    • deafness, myopia, cataract, saddle nose-Marshall type
Rattus norvegicus (Norway rat)
DOID:0050564
  • autosomal dominant nonsyndromic deafness
  • Aliases:
    • autosomal dominant deafness
Rattus norvegicus (Norway rat)
DOID:0080675
  • Stickler syndrome 2
Rattus norvegicus (Norway rat)
DOID:0111680
  • essential fructosuria
  • Aliases:
    • fructokinase deficiency
    • hepatic fructokinase deficiency
    • ketohexokinase deficiency
Rattus norvegicus (Norway rat)
DOID:0112210
  • developmental and epileptic encephalopathy 74
  • Aliases:
    • DEE74
    • early infantile epileptic encephalopathy 74
Homo sapiens (human)
DOID:0111298
  • familial febrile seizures 8
  • Aliases:
    • FEB8
    • familial febrile convulsions 8
Homo sapiens (human)
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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