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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 **1 - 25** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	ugt1a1	100489505	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:0081210	autosomal recessive intellectual developmental disorder 46	ndst1	496577	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	b4galt1.1 b4galt1.2	100145518 549418	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112233	lissencephaly 8 Aliases: LIS8	tmtc3	100145573	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	fkrp	100145309	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	fut11 rgn	444888 448549	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:4948	gallbladder carcinoma Aliases: cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder	abo.1 abo.2 abo.3 abo.4	100497509 549437 549858 550054	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:1324	lung cancer	hs3st2	100492586	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:576	proteinuria	mgat5	100145551	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0110777	hereditary spastic paraplegia 26 Aliases: GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26	b4galnt1	100145208	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	hs3st6	100489739	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	b4galt1.1 b4galt1.2	100145518 549418	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	fkrp	100145309	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	chst3	100492673	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	gyg1	394883	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	alg8	548388	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:1380	endometrial cancer Aliases: endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium primary malignant neoplasm of endometrium tumor of Endometrium	ugt1a1 ugt1a6	100135191 100489505	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:583	hemolytic anemia Aliases: ANEMIA HEMOLYTIC	abo.1 abo.2 abo.3 abo.4	100497509 549437 549858 550054	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:1289	neurodegenerative disease Aliases: degenerative disease	tpi1	100038162	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:9282	ocular hypertension	tpi1	100038162	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	mgat2 mgat2l	100493854 448439	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	rgn	448549	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:8466	retinal degeneration Aliases: degeneration of retina	cs	550067	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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