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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6626 - 6650** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	ogt.L	447694	Xenopus laevis (African clawed frog)
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	c1galt1c1	448225	Xenopus tropicalis (tropical clawed frog)
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	c1galt1c1	448225	Xenopus tropicalis (tropical clawed frog)
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	ext1	448393	Xenopus tropicalis (tropical clawed frog)
DOID:0080322	polycystic kidney disease	alg5 xylt2	448400 448472	Xenopus tropicalis (tropical clawed frog)
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:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	pomt1	448433	Xenopus tropicalis (tropical clawed frog)
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	pomt1	448433	Xenopus tropicalis (tropical clawed frog)
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	pomt1	448433	Xenopus tropicalis (tropical clawed frog)
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	plod3 rgn	448549 734090	Xenopus tropicalis (tropical clawed frog)
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	rgn	448549	Xenopus tropicalis (tropical clawed frog)
DOID:13276	Mycoplasma pneumoniae pneumonia Aliases: Mycoplasma pneumonia Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia	galca	449649	Danio rerio (zebrafish)
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	galca	449649	Danio rerio (zebrafish)
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	galca	449649	Danio rerio (zebrafish)
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	gpd1l	449663	Danio rerio (zebrafish)
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	alg14	450072	Danio rerio (zebrafish)
DOID:5157	benign pleural mesothelioma Aliases: Mesothelioma of Pleura	BST1 MTAP	4507 683	Homo sapiens (human)
DOID:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma Aliases: Hardcastle syndrome bone dysplasia-medullary fibrosarcoma syndrome diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome	MTAP	4507	Homo sapiens (human)
DOID:10047	nodular malignant melanoma Aliases: nodular melanoma	MTAP	4507	Homo sapiens (human)
DOID:4488	sarcomatoid mesothelioma Aliases: malignant fibrous mesothelioma spindled mesothelioma	MTAP	4507	Homo sapiens (human)
DOID:0050625	biliary tract benign neoplasm Aliases: extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct	MTAP	4507	Homo sapiens (human)
DOID:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	trol	45320	Drosophila melanogaster (fruit fly)
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	trol	45320	Drosophila melanogaster (fruit fly)
DOID:13481	thanatophoric dysplasia	trol	45320	Drosophila melanogaster (fruit fly)
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	trol	45320	Drosophila melanogaster (fruit fly)

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