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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 **376 - 400** 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:0112233	lissencephaly 8 Aliases: LIS8	tmtc3	100150181	Danio rerio (zebrafish)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	st3gal3a st3gal3b	393326 407659	Danio rerio (zebrafish)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	chsy1	324407	Danio rerio (zebrafish)
DOID:417	autoimmune disease Aliases: autoimmune hypersensitivity disease hypersensitivity reaction type II disease	parp1	560788	Danio rerio (zebrafish)
DOID:9884	muscular dystrophy	fkrp fktn pomgnt1 pomt1 pomt2	100006345 563878 569769 571426 571876	Danio rerio (zebrafish)
DOID:552	pneumonia Aliases: acute pneumonia	gbgt1l2 gbgt1l3 gbgt1l4 gbgt1l5 gbgt1l8 gbgt1l9	100005565 100005704 387303 447881 563897 566487	Danio rerio (zebrafish)
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	100000478	Danio rerio (zebrafish)
DOID:9351	diabetes mellitus Aliases: diabetes	ins ogt.1	30262 337685	Danio rerio (zebrafish)
DOID:0110741	type 1 diabetes mellitus 2 Aliases: IDDM2 Insulin-Dependent Diabetes Mellitus 2	ins	30262	Danio rerio (zebrafish)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	b3galt6 b4galt7	445022 572324	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:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	si	797517	Danio rerio (zebrafish)
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	pofut2	777668	Danio rerio (zebrafish)
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	cs plod3	322339 556077	Danio rerio (zebrafish)
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	alg8	327601	Danio rerio (zebrafish)
DOID:1574	alcohol use disorder Aliases: Ethanol abuse alcohol abuse	ppp1r3b ppp1r3cb st6gal1	327285 393807 445376	Danio rerio (zebrafish)
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	chst12a gbgt1l2 gbgt1l3 gbgt1l4 gbgt1l5 gbgt1l8 gbgt1l9 ins ugcg	100005565 100005704 30262 387303 407076 447881 553944 563897 566487	Danio rerio (zebrafish)
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	ins	30262	Danio rerio (zebrafish)
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	cs	322339	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:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	c1galt1c1	324052	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)
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	gapdh tmtc3	100150181 317743	Danio rerio (zebrafish)
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	ins	30262	Danio rerio (zebrafish)

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