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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 **12026 - 12050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:769	neuroblastoma	InR	42549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14183	alcoholic neuropathy Aliases: Alcohol-related polyneuropathy Alcoholic polyneuropathy	InR	42549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10605	short bowel syndrome Aliases: acquired short bowel syndrome short gut syndrome	InR	42549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070220	familial hyperinsulinemic hypoglycemia 5 Aliases: HHF5 hyperinsulinemic hypoglycemia due to INSR deficiency hyperinsulinemic hypoglycemia due to insulin receptor deficiency hyperinsulinism due to INSR deficiency	InR	42549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:11695	portal vein thrombosis	InR	42549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:5812	MHC class II deficiency Aliases: BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II	CIITA	4261	Homo sapiens (human)	Alliance of Genome Resources
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	PyK	42620	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	PyK	42620	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080584	autosomal dominant Wolfram syndrome	wfs1	42679	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	wfs1	42679	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111441	optic atrophy 1 Aliases: OPA1	wfs1	42679	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110584	autosomal dominant nonsyndromic deafness 6 Aliases: DFNA14 DFNA38 DFNA6 autosomal dominant deafness 14 autosomal dominant deafness 38 autosomal dominant deafness 6	wfs1	42679	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110241	cataract 41 Aliases: CTRCT41 congenital nuclear type cataract 41	wfs1	42679	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10632	Wolfram syndrome Aliases: WFS	wfs1	42679	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:5723	optic atrophy Aliases: atrophy of optic disc	wfs1	42679	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10603	glucose intolerance Aliases: Glucose malabsorption Malabsorption of glucose	wfs1	42679	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050464	Farber lipogranulomatosis Aliases: Farber disease N-laurylsphingosine deacylase deficiency acid ceramidase deficiency	ASAH1	427	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111527	spinal muscular atrophy with progressive myoclonic epilepsy Aliases: Jankovic-Rivera syndrome SMA-PME SMAPME hereditary myoclonus-progressive distal muscular atrophy syndrome	ASAH1	427	Homo sapiens (human)	Alliance of Genome Resources
DOID:1062	Fanconi syndrome Aliases: Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome	Ctns	42723	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1064	cystinosis Aliases: cystine storage disease	Ctns	42723	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060036	intrinsic cardiomyopathy	RpS3	42761	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110066	amelogenesis imperfecta type 1G Aliases: AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome	CG31145	42784	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10609	rickets Aliases: active rickets	CG31145	42784	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2187	amelogenesis imperfecta	CG31145	42784	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110672	congenital myasthenic syndrome 21 Aliases: CMS21 congenital myasthenic syndrome 21, presynaptic	VAChT	42795	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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