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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **11151 - 11175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110143	Bartter disease type 2 Aliases: BARTS2 Bartter syndrome type 2 Bartter syndrome type 2 antenatal hyperprostaglandin E syndrome 2 hypokalemic alkalosis with hypercalciuria 2 antenatal	KCNJ1	3758	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110654	long QT syndrome 13 Aliases: LQT13	KCNJ5	3762	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	KCNJ11	3767	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	KCNJ11	3767	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	crb eys	3771890 42896	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110384	retinitis pigmentosa 25 Aliases: RP25	eys	3771890	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070249	autosomal dominant Emery-Dreifuss muscular dystrophy 4 Aliases: EDMD4 Emery-Dreifuss muscular dystrophy 4 with variable features Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Msp300	3771968	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080979	arthrogryposis multiplex congenita-3	Msp300	3771968	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070250	autosomal dominant Emery-Dreifuss muscular dystrophy 5 Aliases: EDMD5 Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Msp300	3771968	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	Msp300	3771968	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080954	arthrogryposis multiplex congenita	Msp300	3771968	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111618	autosomal recessive spinocerebellar ataxia 8 Aliases: ARCA1 Autosomal recessive cerebellar ataxia type 1 SCAR8 SYNE1-related autosomal recessive cerebellar ataxia autosomal recessive ataxia, Beauce type recessive ataxia of Beauce	Msp300	3771968	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	Fuca	3772574	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	Alg3	37754	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	ATF4 EIF2AK2 EIF2AK3 KCNK3	3777 468 5610 9451	Homo sapiens (human)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	GlyT	37772	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060698	hyperekplexia 3 Aliases: HKPX3	GlyT	37772	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060180	colitis	Octbeta2R TkR86C TkR99D Tl gbb	37778 41286 41549 43222 43551	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060306	Meier-Gorlin syndrome Aliases: ear-patella-short stature syndrome	gbb scw	37778 46000	Drosophila melanogaster (fruit fly)	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	Taldo Tpi	37804 43582	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0001816	angiosarcoma Aliases: hemangiosarcoma	KCNN4 MYC PTPRB STAT3 TP53	3783 4609 5787 6774 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111577	dehydrated hereditary stomatocytosis 2 Aliases: desiccytosis Gardos xerocytosis Gardos	KCNN4	3783	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	KCNQ1	3784	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	hs6st2	378450	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	ATP1A2 KCNQ2 KCNQ3	3785 3786 477	Homo sapiens (human)	Alliance of Genome Resources

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