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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 **5376 - 5400** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	Alg14	362031	Rattus norvegicus (Norway rat)
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	ALG14	852362	Saccharomyces cerevisiae S288C
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	Alg14	66789	Mus musculus (house mouse)
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	algn-14	187398	Caenorhabditis elegans
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	Alg14	32479	Drosophila melanogaster (fruit fly)
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	alg14.L alg14.S	108714370 108715652	Xenopus laevis (African clawed frog)
DOID:0110657	congenital myasthenic syndrome 8 Aliases: CMS8 congenital myasthenic syndrome 8 with pre- and postsynaptic defects congenital myasthenic syndrome due to agrin deficiency	AGRN	375790	Homo sapiens (human)
DOID:0110649	long QT syndrome 8 Aliases: LQT8	HEXD OGA PRKAA2	10724 284004 5563	Homo sapiens (human)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	alg10	100331575	Danio rerio (zebrafish)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	alg10	548946	Xenopus tropicalis (tropical clawed frog)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	DIE2	853142	Saccharomyces cerevisiae S288C
DOID:0110645	long QT syndrome 2 Aliases: LQT2	ALG10 ALG10B SCD	144245 6319 84920	Homo sapiens (human)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	Alg10	245960	Rattus norvegicus (Norway rat)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	Alg10	326193	Drosophila melanogaster (fruit fly)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	algn-10	172855	Caenorhabditis elegans
DOID:0110645	long QT syndrome 2 Aliases: LQT2	Alg10b	380959	Mus musculus (house mouse)
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	Kcnq1	84020	Rattus norvegicus (Norway rat)
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	Kcnq1	16535	Mus musculus (house mouse)
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	KCNQ1 SCD	3784 6319	Homo sapiens (human)
DOID:0110640	congenital muscular dystrophy due to LMNA mutation Aliases: L-CMD LMNA-related congenital muscular dystrophy congenital muscular dystrophy LMNA-related	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency Aliases: congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 CRPPA FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 729920 79147 9200 9215 952	Homo sapiens (human)
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	Large1	16795	Mus musculus (house mouse)
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	large1	100498555	Xenopus tropicalis (tropical clawed frog)
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	lge-1	187206	Caenorhabditis elegans
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	large1	446213	Danio rerio (zebrafish)

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