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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 **6176 - 6200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0110595	Stromme syndrome Aliases: CILD31 apple peel syndrome with microcephaly and ocular anomalies jejunal atresia with microcephaly and ocular anomalies lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome primary ciliary dyskinesia 31	CENPF	1063	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110596	primary ciliary dyskinesia 21 Aliases: CILD21 primary ciliary dyskinesia 21 without situs inversus	DRC1	92749	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110596	primary ciliary dyskinesia 21 Aliases: CILD21 primary ciliary dyskinesia 21 without situs inversus	Drc1	381738	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110598	primary ciliary dyskinesia 14 Aliases: CILD14 primary ciliary dyskinesia 14 with or without situs inversus	CCDC39	339829	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110599	primary ciliary dyskinesia 3 Aliases: CILD3 primary ciliary dyskinesia 3 with or without situs inversus	DNAH5	1767	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110599	primary ciliary dyskinesia 3 Aliases: CILD3 primary ciliary dyskinesia 3 with or without situs inversus	Dnah5	110082	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110605	primary ciliary dyskinesia 7 Aliases: CILD7 primary ciliary dyskinesia 7 with or without situs inversus	DNAH11	8701	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110605	primary ciliary dyskinesia 7 Aliases: CILD7 primary ciliary dyskinesia 7 with or without situs inversus	Dnah11	13411	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110607	primary ciliary dyskinesia 28 Aliases: CILD28 primary ciliary dyskinesia 28 with or without situs inversus	SPAG1	6674	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110609	primary ciliary dyskinesia 23 Aliases: CILD23 primary ciliary dyskinesia 23 with or without situs inversus	ODAD2	55130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110612	primary ciliary dyskinesia 10 Aliases: CILD10 primary ciliary dyskinesia 10 with or without situs inversus	Dnaaf2	109065	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110612	primary ciliary dyskinesia 10 Aliases: CILD10 primary ciliary dyskinesia 10 with or without situs inversus	DNAAF2	55172	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110615	primary ciliary dyskinesia 25 Aliases: CILD25 primary ciliary dyskinesia 25 with or without situs inversus	DNAAF4	161582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110617	primary ciliary dyskinesia 5 Aliases: CILD5 primary ciliary dyskinesia 5 without situs inversus	HYDIN	54768	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110624	primary ciliary dyskinesia 30 Aliases: CILD30 primary ciliary dyskinesia 30 without situs inversus	ODAD3	115948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110626	primary ciliary dyskinesia 2 Aliases: CILD2 primary ciliary dyskinesia 2 with or without situs inversus	DNAAF3	352909	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	Wfs1	22393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	wfs1	42679	Drosophila melanogaster (fruit fly)	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: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	selenon	394859	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
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	selenon	352914	Danio rerio (zebrafish)	Alliance of Genome Resources
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	SELENON	57190	Homo sapiens (human)	Alliance of Genome Resources
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	Selenon	74777	Mus musculus (house mouse)	Alliance of Genome Resources
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	Fkrp	243853	Mus musculus (house mouse)	Alliance of Genome Resources

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