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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 **7651 - 7675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	tpi1.S	380168	Xenopus laevis (African clawed frog)
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	b4galt7.L b4galt7.S	108710989 495369	Xenopus laevis (African clawed frog)
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	fktn.S	495324	Xenopus laevis (African clawed frog)
DOID:0110443	dilated cardiomyopathy 1B	fktn.S	495324	Xenopus laevis (African clawed frog)
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	alg2.L	446622	Xenopus laevis (African clawed frog)
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	xylt1.L xylt1.S	108703114 444363	Xenopus laevis (African clawed frog)
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	alg8.S	431849	Xenopus laevis (African clawed frog)
DOID:13406	pulmonary sarcoidosis Aliases: lung Sarcoidosis	abo.2.L abo.3.L abo.4.L	108698211 108698863 495825	Xenopus laevis (African clawed frog)
DOID:1245	vulva cancer Aliases: Ca vulva Vulvar tumor malignant Vulvar tumor malignant neoplasm of vulva malignant tumor of vulva neoplasm of vulva vulval cancer vulval neoplasm vulvar neoplasm	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	pomgnt1.L pomgnt1.S	414570 495292	Xenopus laevis (African clawed frog)
DOID:0110741	type 1 diabetes mellitus 2 Aliases: IDDM2 Insulin-Dependent Diabetes Mellitus 2	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	abo.2.L abo.3.L abo.4.L	108698211 108698863 495825	Xenopus laevis (African clawed frog)
DOID:8805	intermediate coronary syndrome Aliases: Angina at rest Anginal chest pain at rest Impending infarction Preinfarction angina Unstable angina Worsening angina	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	xylt1.L xylt1.S xylt2.L	108701100 108703114 444363	Xenopus laevis (African clawed frog)
DOID:8719	in situ carcinoma	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	pigb.L pigb.S	108711378 734564	Xenopus laevis (African clawed frog)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	pofut1.L	398423	Xenopus laevis (African clawed frog)
DOID:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	chst3.L chst3.S	108696269 108697511	Xenopus laevis (African clawed frog)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	LOC108715547	108715547	Xenopus laevis (African clawed frog)
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	b3gat3.L	398597	Xenopus laevis (African clawed frog)
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	hs6st1.L hs6st1.S	108717161 373566	Xenopus laevis (African clawed frog)
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	b3galnt2.L	431874	Xenopus laevis (African clawed frog)
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)
DOID:13482	Proteus syndrome Aliases: Wiedemann's syndrome	akt1.S	399170	Xenopus laevis (African clawed frog)

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