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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 **12376 - 12400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0110677	congenital myasthenic syndrome 4B Aliases: CMS4B congenital myasthenic syndrome 4B fast-channel	CHRNE	1145	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:0110666	congenital myasthenic syndrome 3A Aliases: CMS3A congenital myasthenic syndrome 3A, slow-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:8618	oral cavity cancer Aliases: malignant neoplasm of floor of mouth	CHRNB4 CYP1A1 CYP2E1 SOD3	1143 1543 1571 6649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy Aliases: ENFL	CHRNB2	1141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060684	autosomal dominant nocturnal frontal lobe epilepsy 3 Aliases: ENFL3 nocturnal frontal lobe epilepsy 3	CHRNB2	1141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110681	congenital myasthenic syndrome 2A Aliases: CMS2A congenital myasthenic syndrome 2A slow-channel	CHRNB1	1140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110680	congenital myasthenic syndrome 2C Aliases: CMS2C congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency	CHRNB1	1140	Homo sapiens (human)	Alliance of Genome Resources
DOID:4556	lung large cell carcinoma Aliases: large cell carcinoma of lung large cell lung carcinoma	CHRNA5 DLL4 NOTCH1 PTPN13	1138 4851 54567 5783	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060682	autosomal dominant nocturnal frontal lobe epilepsy 1 Aliases: ENFL1 nocturnal frontal lobe epilepsy 1	CHRNA4	1137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081119	benign familial infantile seizures 6 Aliases: Autosomal dominant nocturnal frontal lobe epilepsy Benign Familial Infantile Seizures, 6 nocturnal frontal lobe epilepsy-4	CHRNA2	1135	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060685	autosomal dominant nocturnal frontal lobe epilepsy 4 Aliases: ENFL4 nocturnal frontal lobe epilepsy 4	CHRNA2	1135	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:0060889	prune belly syndrome Aliases: Eagle-Barret syndrome Obrisnksy syndrome abdominal muscle deficiency syndrome	CHRM3	1131	Homo sapiens (human)	Alliance of Genome Resources
DOID:365	bladder disease Aliases: Urinary Bladder Disease	CHRM3 RGS3 SLC18A3	1131 5998 6572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	CHRM3 LMOD1 MYH11 MYL9 MYLK	10398 1131 25802 4629 4638	Homo sapiens (human)	Alliance of Genome Resources
DOID:12583	velocardiofacial syndrome Aliases: Shprintzen syndrome VCF-Velocardiofacial syndrome	CHRD CRKL EDNRA ESS2 PRICKLE1 UFD1	1399 144165 1909 7353 8220 8646	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110265	cataract 31 multiple types Aliases: CTRCT31	CHMP4B	128866	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111227	frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Aliases: ALS17 (FORMERLY) AMYOTROPHIC LATERAL SCLEROSIS AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY) CHMP2B-RELATED CHMP2B-related frontotemporal dementia FRONTOTEMPORAL DEMENTIA FTD3 FTDALS7 amyotrophic lateral sclerosis type 17 chromosome 3-linked frontotemporal dementia	CHMP2B	25978	Homo sapiens (human)	Alliance of Genome Resources
DOID:9821	choroideremia Aliases: progressive Choroidal Atrophy	CHM CHML	1121 1122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	CHL1 L1CAM NFASC NRCAM TRPM1 TRPM3	10752 23114 3897 4308 4897 80036	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:8619	recurrent hypersomnia Aliases: primary recurrent hypersomnia	CHKB	1120	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050912	colon adenoma	CHKA RAC1 RBP4 TET2	1119 54790 5879 5950	Homo sapiens (human)	Alliance of Genome Resources

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