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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **651 - 675** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060549	Barber-Say syndrome	TWIST2	117581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060550	ablepharon macrostomia syndrome	TWIST2	117581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060556	Kufor-Rakeb syndrome Aliases: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9	Atp13a2	74772	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060556	Kufor-Rakeb syndrome Aliases: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9	ATP13A2	23400	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060558	lethal congenital contracture syndrome	VPS1	853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060558	lethal congenital contracture syndrome	ADCY6 ADGRG6 CNTNAP1 DNM2 GLDN NEK9	112 1785 342035 57211 8506 91754	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060559	lethal congenital contracture syndrome 1 Aliases: LCCS1 multiple contracture syndrome, Finnish type	GLE1	851320	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060560	lethal congenital contracture syndrome 2 Aliases: LCCS2 multiple contracture syndrome, Israeli-Bedouin type	ERBB3	2065	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060563	Char syndrome	TFAP2B	7021	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060563	Char syndrome	Tfap2b	21419	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060564	spinal disease	Tsc1	64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060564	spinal disease	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060565	Ritscher-Schinzel syndrome Aliases: CCC dysplasia craniocerebellocardiac dysplasia	VPS35L	57020	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060569	hypertrichotic osteochondrodysplasia Cantu type Aliases: Cantu syndrome	ABCC9	10060	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060569	hypertrichotic osteochondrodysplasia Cantu type Aliases: Cantu syndrome	Abcc9	20928	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060571	Ritscher-Schinzel syndrome 1	WASHC5	9897	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060572	Ritscher-Schinzel syndrome 2	CCDC22	28952	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060573	von Willebrand's disease 1 Aliases: VWD type 1 VWD1 von Willebrand disease type 1 von Willebrand disease type I	ITGA2 ITGA2B PLAT VWF	3673 3674 5327 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060574	von Willebrand's disease 2 Aliases: VWD type 2 VWD2 von Willebrand disease type 2 von Willebrand disease type II	Vwf	22371	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060574	von Willebrand's disease 2 Aliases: VWD type 2 VWD2 von Willebrand disease type 2 von Willebrand disease type II	ITGA2 VWF	3673 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060575	3MC syndrome 1	MASP1	5648	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060576	3MC syndrome 2	COLEC11	78989	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060577	3MC syndrome 3	COLEC10	10584	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060578	Noonan syndrome 1 Aliases: NS1	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060578	Noonan syndrome 1 Aliases: NS1	Ptpn11	19247	Mus musculus (house mouse)	Alliance of Genome Resources

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