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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 **8951 - 8975** of **15957** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111083	Fanconi anemia complementation group D2 Aliases: FA4 FAD2 FANCD2 Fanconi pancytopenia type 4	FANCD2	2177	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111079	birdshot chorioretinopathy Aliases: BSCR birdshot chorioretinitis birdshot retinochoroiditis birdshot retinochoroidopathy vitiliginous choroiditis	Il2	116562	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111079	birdshot chorioretinopathy Aliases: BSCR birdshot chorioretinitis birdshot retinochoroiditis birdshot retinochoroidopathy vitiliginous choroiditis	HLA-B IL2	3106 3558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111079	birdshot chorioretinopathy Aliases: BSCR birdshot chorioretinitis birdshot retinochoroiditis birdshot retinochoroidopathy vitiliginous choroiditis	H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Il2	110557 14964 14972 14990 15006 15007 15013 15015 15018 15043 16183	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111078	tibial muscular dystrophy Aliases: Finnish tibial muscular dystrophy TMD Tardive tibial muscular dystrophy Udd myopathy Udd type distal myopathy distal titinopathy	Ttn	22138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111078	tibial muscular dystrophy Aliases: Finnish tibial muscular dystrophy TMD Tardive tibial muscular dystrophy Udd myopathy Udd type distal myopathy distal titinopathy	TTN	7273	Homo sapiens (human)	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	PYK2	854529	Saccharomyces cerevisiae S288C	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	PKLR	5313	Homo sapiens (human)	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:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	Pklr	24651	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111076	progressive familial heart block type IB Aliases: PFHB1B	TRPM4	54795	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111076	progressive familial heart block type IB Aliases: PFHB1B	Trpm4	68667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111074	progressive familial heart block type IA Aliases: PFHB1A	para	32619	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111074	progressive familial heart block type IA Aliases: PFHB1A	Scn5a	20271	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111074	progressive familial heart block type IA Aliases: PFHB1A	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111074	progressive familial heart block type IA Aliases: PFHB1A	Scn5a	25665	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111072	myostatin-related muscle hypertrophy Aliases: MSLHP	MSTN	2660	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111072	myostatin-related muscle hypertrophy Aliases: MSLHP	mstnb	798441	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111072	myostatin-related muscle hypertrophy Aliases: MSLHP	daf-7	175237	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111072	myostatin-related muscle hypertrophy Aliases: MSLHP	Mstn	17700	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111072	myostatin-related muscle hypertrophy Aliases: MSLHP	Mstn	29152	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111071	congenital bile acid synthesis defect 1 Aliases: CBAS1	HSD3B7	80270	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111070	congenital bile acid synthesis defect 3 Aliases: CBAS3 oxysterol 7-alpha-hydroxylase deficiency	CYP7B1	9420	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111069	congenital bile acid synthesis defect 2 Aliases: CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency	GCY1 YPR1	851974 854287	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111069	congenital bile acid synthesis defect 2 Aliases: CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency	AKR1D1	6718	Homo sapiens (human)	Alliance of Genome Resources

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