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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3051 - 3075** of **4621** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	DPAGT1	1798	Homo sapiens (human)
DOID:0110672	congenital myasthenic syndrome 21 Aliases: CMS21 congenital myasthenic syndrome 21, presynaptic	CHAT	1103	Homo sapiens (human)
DOID:0110671	congenital myasthenic syndrome 6 Aliases: CMS Ia2 CMS1A2 CMS6 CMSEA FIM FIMG2 congenital myasthenic syndrome 6, presynaptic congenital myasthenic syndrome type Ia2 congenital presynaptic myasthenic syndrome associated with episodic apnea familial infantile myasthenia familial infantile myasthenia gravis 2	CHAT	1103	Homo sapiens (human)
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	ALG2	85365	Homo sapiens (human)
DOID:0110668	congenital myasthenic syndrome 10 Aliases: CMS10 LGM congenital muscular dystrophy merosin-positive familial limb-girdle myasthenia	AGRN	375790	Homo sapiens (human)
DOID:0110667	congenital myasthenic syndrome 5 Aliases: CMS Ic CMS5 EAD Engel congenital myasthenic syndrome congenital myasthenic syndrome Engel type congenital myasthenic syndrome type Ic end plate acetylcholinesterase deficiency	ACHE	43	Homo sapiens (human)
DOID:0110660	congenital myasthenic syndrome 12 Aliases: CMS12 congenital myasthenia 12 with tubular aggregates	GFPT1	2673	Homo sapiens (human)
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	ALG14	199857	Homo sapiens (human)
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 ALG10B SCD	144245 6319 84920	Homo sapiens (human)
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	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:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 CSPG4 DCN FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2 SOAT1	10585 11041 1120 1272 1464 1634 217 2218 2632 3098 31 43 4534 55624 5563 64419 6646 79147 9200 9215 952	Homo sapiens (human)
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 DAG1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 1605 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110634	congenital muscular dystrophy 1B Aliases: CMD1B MDC1B congenital muscular dystrophy type 1B	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: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	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: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	ACACA ACHE ALDH2 B4GAT1 CD38 CHKA CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1119 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	COMT	1312	Homo sapiens (human)
DOID:0110594	primary ciliary dyskinesia 1 Aliases: CILD1 primary ciliary dyskinesia 1 with or without situs inversus	AKR1C4 CEL ICAM1 INPP5E MBL2 NCAM1 NT5E NTM PARP9 PNPLA2 SCD5 SDC1 SLC27A5	1056 10998 1109 3383 4153 4684 4907 50863 56623 57104 6382 79966 83666	Homo sapiens (human)
DOID:0110593	autosomal dominant nonsyndromic deafness 9 Aliases: DFNA9 autosomal dominant deafness 9	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0110592	autosomal dominant nonsyndromic deafness 70 Aliases: DFNA70 autosomal dominant deafness 70	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0110591	autosomal dominant nonsyndromic deafness 7 Aliases: DFNA7 autosomal dominant deafness 7	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)

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