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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 **13626 - 13650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:12270	coloboma Aliases: coloboma of eye coloboma of macula congenital ocular coloboma	cfz-2 lam-1 ptc-1	174274 177292 178768	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1928	Williams-Beuren syndrome Aliases: Fanconi Schlesinger syndrome WBS	cfz-2 mom-5	172856 178768	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050809	mucopolysaccharidosis IX	chhy-1	174383	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110661	congenital myasthenic syndrome 20 Aliases: CMS20 congenital myasthenic syndrome 20 presynaptic	cho-1	178274	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7 Aliases: DHMN7A DHMNVPy HMN VIIA HMN7A Harper-Young myopath dHMN7 distal hereditary motor neuronopathy type 7 distal hereditary motor neuropathy type VIIA distal spinal muscular atrophy with vocal cord paralysis distal spinal muscular atrophy with vocal cord paralysis type 7A	cho-1	178274	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3635	congenital myasthenic syndrome	chrna1	30725	Danio rerio (zebrafish)	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	chrna1	30725	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110662	congenital myasthenic syndrome 1B Aliases: CMS1B congenital myasthenic syndrome 1B, fast-channel	chrna1	30725	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110665	congenital myasthenic syndrome 3B Aliases: CMS3B congenital myasthenic syndrome 3B, fast-channel	chrnd.L	444847	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110666	congenital myasthenic syndrome 3A Aliases: CMS3A congenital myasthenic syndrome 3A, slow-channel	chrnd.L	444847	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110664	congenital myasthenic syndrome 3C Aliases: congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency	chrnd.L	444847	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:3635	congenital myasthenic syndrome	chrne.L	386670	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110677	congenital myasthenic syndrome 4B Aliases: CMS4B congenital myasthenic syndrome 4B fast-channel	chrne.L	386670	Xenopus laevis (African clawed frog)	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	chrne.L	386670	Xenopus laevis (African clawed frog)	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	chrne.L	386670	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	chst14	100496179	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	chst14	404732	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	chst14.L	108699261	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	chst3 col2a1	100492673 394828	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	chst3	100492673	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	chst3.L chst3.S col2a1.L tgfb1.L	108696269 108697511 397738 397778	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	chst3.L chst3.S	108696269 108697511	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	chst3a chst3b	556800 559721	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	chst3a chst3b	556800 559721	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	chst4 chst6	100495636 100496630	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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