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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 **7901 - 7925** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	pomt1	448433	Xenopus tropicalis (tropical clawed frog)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	st3gal3	402789	Xenopus tropicalis (tropical clawed frog)
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	large1	100498555	Xenopus tropicalis (tropical clawed frog)
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	cs fkrp	100145309 550067	Xenopus tropicalis (tropical clawed frog)
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	dgat2	395003	Xenopus tropicalis (tropical clawed frog)
DOID:0050559	Fukuyama congenital muscular dystrophy	fktn	100124956	Xenopus tropicalis (tropical clawed frog)
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	rgn	448549	Xenopus tropicalis (tropical clawed frog)
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	large1	100498555	Xenopus tropicalis (tropical clawed frog)
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	b4galt7	100144979	Xenopus tropicalis (tropical clawed frog)
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	rxylt1	100145540	Xenopus tropicalis (tropical clawed frog)
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	ugt1a1 ugt1a6	100135191 100489505	Xenopus tropicalis (tropical clawed frog)
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	galc	779723	Xenopus tropicalis (tropical clawed frog)
DOID:0050565	autosomal recessive nonsyndromic deafness	tmtc4	100158586	Xenopus tropicalis (tropical clawed frog)
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	ext1 ext2 extl3	100151709 448393 493398	Xenopus tropicalis (tropical clawed frog)
DOID:0050570	congenital disorder of glycosylation type I	alg12 alg1 alg5 alg6 alg8 alg9 dpm1	100497477 448472 496884 496948 548388 548874 594994	Xenopus tropicalis (tropical clawed frog)
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	hs6st1	550071	Xenopus tropicalis (tropical clawed frog)
DOID:219	colon cancer	hs3st2	100492586	Xenopus tropicalis (tropical clawed frog)
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	tpi1	100038162	Xenopus tropicalis (tropical clawed frog)
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	fkrp	100145309	Xenopus tropicalis (tropical clawed frog)
DOID:1289	neurodegenerative disease Aliases: degenerative disease	tpi1	100038162	Xenopus tropicalis (tropical clawed frog)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	b3galt6	548849	Xenopus tropicalis (tropical clawed frog)
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	alg11	394898	Xenopus tropicalis (tropical clawed frog)
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	b3gat1	100037907	Xenopus tropicalis (tropical clawed frog)
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	b3gat2	594928	Xenopus tropicalis (tropical clawed frog)
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	st3gal3	402789	Xenopus tropicalis (tropical clawed frog)

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