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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6951 - 6975** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	b3galt6	548849	Xenopus tropicalis (tropical clawed frog)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	b3galt6	548849	Xenopus tropicalis (tropical clawed frog)
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	alg12	548874	Xenopus tropicalis (tropical clawed frog)
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	adprs	548938	Xenopus tropicalis (tropical clawed frog)
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	mpdu1	548940	Xenopus tropicalis (tropical clawed frog)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	alg10	548946	Xenopus tropicalis (tropical clawed frog)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	alg10	548946	Xenopus tropicalis (tropical clawed frog)
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	b4galt5 b4galt6	548965 549139	Xenopus tropicalis (tropical clawed frog)
DOID:0081312	T-cell non-Hodgkin lymphoma	IER3 TMEM260 TP53	54916 7157 8870	Homo sapiens (human)
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	ADPRS BPHL PARG	54936 670 8505	Homo sapiens (human)
DOID:0110125	Bardet-Biedl syndrome 3 Aliases: BBS3	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110124	Bardet-Biedl syndrome 2 Aliases: BBS2	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110134	Bardet-Biedl syndrome 12 Aliases: BBS12	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110131	Bardet-Biedl syndrome 9 Aliases: BBS9	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110140	Bardet-Biedl syndrome 18 Aliases: BBS18	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110141	Bardet-Biedl syndrome 19 Aliases: BBS19	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110126	Bardet-Biedl syndrome 4 Aliases: BBS4	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110128	Bardet-Biedl syndrome 6 Aliases: BBS6	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110132	Bardet-Biedl syndrome 10 Aliases: BBS10	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110130	Bardet-Biedl syndrome 8 Aliases: BBS8	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110133	Bardet-Biedl syndrome 11 Aliases: BBS11	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110129	Bardet-Biedl syndrome 7 Aliases: BBS7	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110127	Bardet-Biedl syndrome 5 Aliases: BBS5	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110123	Bardet-Biedl syndrome 1 Aliases: BBS1	INPP5E PIGX	54965 56623	Homo sapiens (human)

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