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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 **401 - 425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	pomk	492773	Danio rerio (zebrafish)
DOID:0050570	congenital disorder of glycosylation type I	alg12 alg1 alg6 alg8 alg9 dpm1	327601 334161 393598 445202 445327 569494	Danio rerio (zebrafish)
DOID:0110777	hereditary spastic paraplegia 26 Aliases: GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26	b4galnt1a b4galnt1b	558684 793635	Danio rerio (zebrafish)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	st3gal3a st3gal3b	393326 407659	Danio rerio (zebrafish)
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	tpi1a tpi1b	192309 560753	Danio rerio (zebrafish)
DOID:5517	stomach carcinoma Aliases: cancer of the stomach carcinoma of stomach gastric carcinoma	parp1	560788	Danio rerio (zebrafish)
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	c1galt1c1	324052	Danio rerio (zebrafish)
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	ext1a ext1b	497279 497280	Danio rerio (zebrafish)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	b3galt6 b4galt7	445022 572324	Danio rerio (zebrafish)
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	cs plod3	322339 556077	Danio rerio (zebrafish)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	poglut1	641495	Danio rerio (zebrafish)
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	gapdh tmtc3	100150181 317743	Danio rerio (zebrafish)
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	pomt1 pomt2	563878 569769	Danio rerio (zebrafish)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	lfng	30158	Danio rerio (zebrafish)
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	pomgnt2	497644	Danio rerio (zebrafish)
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	fkrp	571426	Danio rerio (zebrafish)
DOID:1289	neurodegenerative disease Aliases: degenerative disease	sarm1 tpi1a tpi1b	192309 403143 560753	Danio rerio (zebrafish)
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	cs	322339	Danio rerio (zebrafish)
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	ext1a ext1b ext1c ext2 extl3	493780 493783 497279 497280 497281	Danio rerio (zebrafish)
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	ins	30262	Danio rerio (zebrafish)
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	b4gat1	101669768	Danio rerio (zebrafish)
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	aldob	321664	Danio rerio (zebrafish)
DOID:9256	colorectal cancer	galnt12	559736	Danio rerio (zebrafish)
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	chst3a chst3b	556800 559721	Danio rerio (zebrafish)
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	tpi1a tpi1b	192309 560753	Danio rerio (zebrafish)

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