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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 **126 - 150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0110229	cataract 6 multiple types Aliases: CTRCT6	vab-1	173794	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	ung-1	176633	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11702	dysgammaglobulinemia	ung-1	176633	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080434	developmental and epileptic encephalopathy 61 Aliases: DEE61 early infantile epileptic encephalopathy 61	unc-71	176706	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060685	autosomal dominant nocturnal frontal lobe epilepsy 4 Aliases: ENFL4 nocturnal frontal lobe epilepsy 4	unc-63	172150	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110666	congenital myasthenic syndrome 3A Aliases: CMS3A congenital myasthenic syndrome 3A, slow-channel	unc-63	172150	Caenorhabditis elegans	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	unc-63	172150	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110665	congenital myasthenic syndrome 3B Aliases: CMS3B congenital myasthenic syndrome 3B, fast-channel	unc-63	172150	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110664	congenital myasthenic syndrome 3C Aliases: congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency	unc-63	172150	Caenorhabditis elegans	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	unc-63	172150	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110677	congenital myasthenic syndrome 4B Aliases: CMS4B congenital myasthenic syndrome 4B fast-channel	unc-63	172150	Caenorhabditis elegans	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	unc-63	172150	Caenorhabditis elegans	Alliance of Genome Resources
DOID:13481	thanatophoric dysplasia	unc-52	175126	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	unc-52	175126	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	unc-52	175126	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112202	developmental and epileptic encephalopathy	unc-47	176431	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	unc-47	176431	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111153	congenital mirror movement disorder Aliases: familial congenital controlateral synkinesia familial congenital mirror movements hereditary congenital controlateral synkinesia hereditary congenital mirror movements isolated congenital controlateral synkinesia isolated congenital mirror movements	unc-40 unc-6	172233 180961	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060684	autosomal dominant nocturnal frontal lobe epilepsy 3 Aliases: ENFL3 nocturnal frontal lobe epilepsy 3	unc-38 unc-63	172105 172150	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy Aliases: ENFL	unc-38 unc-63	172105 172150	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0081023	retinal cone dystrophy 4	unc-36	176155	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070395	developmental and epileptic encephalopathy 110 Aliases: DEE110 early infantile epileptic encephalopathy 110	unc-36	176155	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060682	autosomal dominant nocturnal frontal lobe epilepsy 1 Aliases: ENFL1 nocturnal frontal lobe epilepsy 1	unc-29 unc-38 unc-63	172105 172150 172703	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	unc-103	175527	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	ugt1a7 ugt1ab	100384891 406731	Danio rerio (zebrafish)	Alliance of Genome Resources

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