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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 **1801 - 1825** of **15957** 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 ATP13A3 ATP13A5	23400 344905 79572	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 Atp13a3 Atp13a5	224088 268878 74772	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060558	lethal congenital contracture syndrome	Adgrg6 Cntnap1 Dnm2 Gldn	13430 215798 235379 53321	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060558	lethal congenital contracture syndrome	Nrx-IV	39387	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060558	lethal congenital contracture syndrome	Adcy6 Cntnap1 Gldn	25289 315675 84008	Rattus norvegicus (Norway rat)	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:0060558	lethal congenital contracture syndrome	adgrg6	561970	Danio rerio (zebrafish)	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	cof-2 nlr-1	178167 183582	Caenorhabditis elegans	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	Egfr	37455	Drosophila melanogaster (fruit fly)	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:0060560	lethal congenital contracture syndrome 2 Aliases: LCCS2 multiple contracture syndrome, Israeli-Bedouin type	Erbb3	29496	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060560	lethal congenital contracture syndrome 2 Aliases: LCCS2 multiple contracture syndrome, Israeli-Bedouin type	let-23	174462	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060560	lethal congenital contracture syndrome 2 Aliases: LCCS2 multiple contracture syndrome, Israeli-Bedouin type	Erbb3	13867	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060563	Char syndrome	Tfap2b	21419	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060563	Char syndrome	TFAP2B	7021	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060564	spinal disease	Penk	29237	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060564	spinal disease	FLNB TSC1	2317 7248	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060564	spinal disease	Flnb Penk Tsc1	18619 286940 64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060565	Ritscher-Schinzel syndrome Aliases: CCC dysplasia craniocerebellocardiac dysplasia	VPS35L	57020	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060565	Ritscher-Schinzel syndrome Aliases: CCC dysplasia craniocerebellocardiac dysplasia	Dpysl5 Vps35l	65254 71517	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060569	hypertrichotic osteochondrodysplasia Cantu type Aliases: Cantu syndrome	ABCC9	10060	Homo sapiens (human)	Alliance of Genome Resources

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