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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 **2826 - 2850** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
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)
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)
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	G6PD HK1 PKLR	2539 3098 5313	Homo sapiens (human)
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
DOID:0111078	tibial muscular dystrophy Aliases: Finnish tibial muscular dystrophy TMD Tardive tibial muscular dystrophy Udd myopathy Udd type distal myopathy distal titinopathy	COMT GNE PIK3C2A	10020 1312 5286	Homo sapiens (human)
DOID:0111083	Fanconi anemia complementation group D2 Aliases: FA4 FAD2 FANCD2 Fanconi pancytopenia type 4	FUT1 NTHL1	2523 4913	Homo sapiens (human)
DOID:0111087	Fanconi anemia complementation group C Aliases: FA3 FACC FANCC Fanconi pancytopenia type 3	GCK	2645	Homo sapiens (human)
DOID:0111095	Fanconi anemia complementation group A Aliases: FANCA	ALDH2 ANXA7 CAT CD33 CD44 CD48 CYP2B6 ELOVL6 FUT1 HPGDS HPRT1 ICAM1 LPL ME1 MRC1 NCAM1 NEIL1 PARP1 PFKFB3 PRKAA2 PTEN SOAT1 TIGAR VCAM1	142 1555 217 2523 27306 310 3251 3383 4023 4199 4360 4684 5209 5563 57103 5728 6646 7412 79071 79661 847 945 960 962	Homo sapiens (human)
DOID:0111100	maturity-onset diabetes of the young type 2 Aliases: MODY glucokinase-related MODY type 2 MODY2	Gck	103988	Mus musculus (house mouse)
DOID:0111100	maturity-onset diabetes of the young type 2 Aliases: MODY glucokinase-related MODY type 2 MODY2	GCK	2645	Homo sapiens (human)
DOID:0111100	maturity-onset diabetes of the young type 2 Aliases: MODY glucokinase-related MODY type 2 MODY2	Gck	24385	Rattus norvegicus (Norway rat)
DOID:0111100	maturity-onset diabetes of the young type 2 Aliases: MODY glucokinase-related MODY type 2 MODY2	Hex-t1 Hex-t2	117364 43191	Drosophila melanogaster (fruit fly)
DOID:0111100	maturity-onset diabetes of the young type 2 Aliases: MODY glucokinase-related MODY type 2 MODY2	EMI2 GLK1 HXK1 HXK2	850317 850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:0111102	maturity-onset diabetes of the young type 3 Aliases: MODY type 3 MODY3	GCK	2645	Homo sapiens (human)
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	Pdx1	29535	Rattus norvegicus (Norway rat)
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	PDHX PDX1	3651 8050	Homo sapiens (human)
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	Pdx1	18609	Mus musculus (house mouse)
DOID:0111105	maturity-onset diabetes of the young type 8 Aliases: MODY type 8 MODY8 diabetes and pancreatic exocrine maturity-onset diabetes of the young type 8 with exocrine dysfunction	CEL	1056	Homo sapiens (human)
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	INS	3630	Homo sapiens (human)
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	Ins1 Ins2	16333 16334	Mus musculus (house mouse)
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	ins	30262	Danio rerio (zebrafish)
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	Ins1 Ins2	24505 24506	Rattus norvegicus (Norway rat)
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	KCNJ11	3767	Homo sapiens (human)
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	Kcnj11	83535	Rattus norvegicus (Norway rat)

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