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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5776 - 5800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	Alg9	102580	Mus musculus (house mouse)
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	Kcnj11	16514	Mus musculus (house mouse)
DOID:0070450	mitochondrial DNA depletion syndrome 19	Slc25a10	27376	Mus musculus (house mouse)
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	Pik3r1	18708	Mus musculus (house mouse)
DOID:12297	Vogt-Koyanagi-Harada disease Aliases: Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome	Tnf	21926	Mus musculus (house mouse)
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	Gm2a	14667	Mus musculus (house mouse)
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	Stt3b	68292	Mus musculus (house mouse)
DOID:8283	peritonitis Aliases: Retractile mesenteritis acute generalized peritonitis primary bacterial peritonitis sclerosing mesenteritis	Aldob Gusb Tnf	110006 21926 230163	Mus musculus (house mouse)
DOID:0081001	Cowden syndrome 5	Pik3ca	18706	Mus musculus (house mouse)
DOID:0090141	cortisone reductase deficiency 1 Aliases: CORTRD1	H6pd	100198	Mus musculus (house mouse)
DOID:4195	hyperglycemia	Adrb1 Akr1b1 Gck Htr2a Ldha Lepr Pdx1 Pla2g4a Ppargc1a	103988 11554 11677 15558 16828 16847 18609 18783 19017	Mus musculus (house mouse)
DOID:0060585	Noonan syndrome 7 Aliases: NS7	Braf	109880	Mus musculus (house mouse)
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	Akt1 Bad Tnf	11651 12015 21926	Mus musculus (house mouse)
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	Alg11	207958	Mus musculus (house mouse)
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	Eno2 Tnf	13807 21926	Mus musculus (house mouse)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	Chsy1	269941	Mus musculus (house mouse)
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	Hk1	15275	Mus musculus (house mouse)
DOID:10873	Kuhnt-Junius degeneration Aliases: Exudative senile macular degeneration of retina Neovascular age-related macular degeneration Senile macular degeneration, wet Wet senile macular retinal degeneration	Tlr2	24088	Mus musculus (house mouse)
DOID:0080037	Worth syndrome Aliases: Worth's syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus	Lrp5	16973	Mus musculus (house mouse)
DOID:7998	hyperthyroidism Aliases: overactive thyroid	Adipoq Cs Nr1d1 Ppargc1a Ugt1a1	11450 12974 19017 217166 394436	Mus musculus (house mouse)
DOID:10247	pleurisy	Tnf	21926	Mus musculus (house mouse)
DOID:3343	glycoproteinosis Aliases: Mucolipidosis type I sialidosis	Gnptg Neu1	18010 214505	Mus musculus (house mouse)
DOID:9870	galactosemia Aliases: Galactosaemia Galactose intolerance	Akr1b1 Gale Galm Galt	11677 14430 319625 74246	Mus musculus (house mouse)
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	Npc1	18145	Mus musculus (house mouse)
DOID:3526	cerebral infarction Aliases: CVA - Cerebral infarction Cerebral infarct	Hmgb1 Pdx1 Rbp4 Tnf	15289 18609 19662 21926	Mus musculus (house mouse)

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