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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 **12076 - 12100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110666	congenital myasthenic syndrome 3A Aliases: CMS3A congenital myasthenic syndrome 3A, slow-channel	nAChRalpha1 nAChRalpha2 nAChRbeta2	42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110681	congenital myasthenic syndrome 2A Aliases: CMS2A congenital myasthenic syndrome 2A slow-channel	nAChRalpha1 nAChRalpha2 nAChRbeta2	42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110665	congenital myasthenic syndrome 3B Aliases: CMS3B congenital myasthenic syndrome 3B, fast-channel	nAChRalpha1 nAChRalpha2 nAChRbeta2	42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110680	congenital myasthenic syndrome 2C Aliases: CMS2C congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency	nAChRalpha1 nAChRalpha2 nAChRbeta2	42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110677	congenital myasthenic syndrome 4B Aliases: CMS4B congenital myasthenic syndrome 4B fast-channel	nAChRalpha1 nAChRalpha2 nAChRbeta2	42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110678	congenital myasthenic syndrome 4A Aliases: CMS Ia1 CMS1A1 CMS4A congenital myasthenic syndrome 4A slow-channel congenital myasthenic syndrometype Ia1	nAChRalpha1 nAChRalpha2 nAChRbeta2	42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110679	congenital myasthenic syndrome 4C Aliases: CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id familial infantile myasthenia 1	nAChRalpha1 nAChRalpha2 nAChRbeta2	42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy Aliases: ENFL	nAChRalpha1 nAChRbeta2	42918 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060682	autosomal dominant nocturnal frontal lobe epilepsy 1 Aliases: ENFL1 nocturnal frontal lobe epilepsy 1	nAChRalpha2 nAChRbeta2	42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050465	Muir-Torre syndrome	MLH1 MSH2	4292 4436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070274	hereditary nonpolyposis colorectal cancer type 2 Aliases: COCA2 FCC2 HNPCC2 familial nonpolyposis colon cancer type 2	MLH1	4292	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	nAChRbeta2	42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060685	autosomal dominant nocturnal frontal lobe epilepsy 4 Aliases: ENFL4 nocturnal frontal lobe epilepsy 4	nAChRbeta2	42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110111	atrial heart septal defect 6 Aliases: ASD6 atrial septal defect 6	tld tok	42944 42945	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110342	osteogenesis imperfecta type 13 Aliases: OI13 osteogenesis imperfecta type XIII	tld tok	42944 42945	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12347	osteogenesis imperfecta Aliases: Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease	tld tok	42944 42945	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	beta4GalT7	42991	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:6088	acute stress disorder Aliases: traumatic stress disorder	ACHE	43	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	Stt3B	43005	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	Alg9	43031	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9277	primary cerebellar degeneration	Sil1	43034	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	Sil1	43034	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4479	pseudohypoaldosteronism	CUL3 NR3C2 SCNN1A SCNN1B SCNN1G WNK1 WNK2 WNK3	4306 6337 6338 6340 65125 65267 65268 8452	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060855	autosomal dominant pseudohypoaldosteronism type 1 Aliases: PHA1A autosomal dominant PHA 1	NR3C2	4306	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110867	congenital stationary night blindness 1C Aliases: CSNB1C congenital stationary night blindness 1C autosomal recessive	TRPM1	4308	Homo sapiens (human)	Alliance of Genome Resources

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