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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 **2601 - 2625** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0110668	congenital myasthenic syndrome 10 Aliases: CMS10 LGM congenital muscular dystrophy merosin-positive familial limb-girdle myasthenia	DOK7	285489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110666	congenital myasthenic syndrome 3A Aliases: CMS3A congenital myasthenic syndrome 3A, slow-channel	CHRND	1144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110665	congenital myasthenic syndrome 3B Aliases: CMS3B congenital myasthenic syndrome 3B, fast-channel	CHRND	1144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110664	congenital myasthenic syndrome 3C Aliases: congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency	CHRND	1144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110663	congenital myasthenic syndrome 1A Aliases: CMS IIa CMS1A congenital myasthenic syndrome 1A, slow-channel congenital myasthenic syndrome type IIa	CAST CHRNA1	1134 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110662	congenital myasthenic syndrome 1B Aliases: CMS1B congenital myasthenic syndrome 1B, fast-channel	CHRNA1	1134	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110661	congenital myasthenic syndrome 20 Aliases: CMS20 congenital myasthenic syndrome 20 presynaptic	SLC5A7	60482	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110659	congenital myasthenic syndrome 7 Aliases: CMS7 congenital myasthenic syndrome 7 presynaptic	SYT1 SYT2	127833 6857	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	ALG14	199857	Homo sapiens (human)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:0110654	long QT syndrome 13 Aliases: LQT13	KCNJ5	3762	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110652	long QT syndrome 11 Aliases: LQT11	AKAP9	10142	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110651	long QT syndrome 10 Aliases: LQT10	SCN4B	6330	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110649	long QT syndrome 8 Aliases: LQT8	CACNA1C	775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110648	long QT syndrome 6 Aliases: LQT6	KCNE2	9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110647	long QT syndrome 5 Aliases: LQT5	KCNE1	3753	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110646	long QT syndrome 3 Aliases: LQT3	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110645	long QT syndrome 2 Aliases: LQT2	ALG10B KCNH2 KCNH6	144245 3757 81033	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:0110640	congenital muscular dystrophy due to LMNA mutation Aliases: L-CMD LMNA-related congenital muscular dystrophy congenital muscular dystrophy LMNA-related	LMNA LMNB1 LMNB2	4000 4001 84823	Homo sapiens (human)	Alliance of Genome Resources
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	ITGA7	3679	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	LAMA2	3908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110633	rigid spine muscular dystrophy 1 Aliases: Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease	SELENON	57190	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110632	megaconial type congenital muscular dystrophy Aliases: congenital megaconial myopathy congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect congenital muscular dystrophy with mitochondrial structural abnormalities megaconial congenital muscular dystrophy	CHKB	1120	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources

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