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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 **251 - 275** of **15957** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0050680	Boomerang dysplasia	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	PHF6	84295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050683	Bothnia retinal dystrophy Aliases: Vasterbotten dystrophy	RLBP1	6017	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111707	Bothnian type palmoplantar keratoderma Aliases: PPKB diffuse palmoplantar keratoderma, Bothnian type	Aqp5	11830	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111707	Bothnian type palmoplantar keratoderma Aliases: PPKB diffuse palmoplantar keratoderma, Bothnian type	AQP5	362	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111707	Bothnian type palmoplantar keratoderma Aliases: PPKB diffuse palmoplantar keratoderma, Bothnian type	Aqp5	25241	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	NTE1	854943	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	Pnpla6	50767	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050692	Brody myopathy	ATP2A3	489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050692	Brody myopathy	Atp2a1 Atp2a2 Atp2a3	11937 11938 53313	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050693	Brooke-Spiegler syndrome Aliases: BRSS BSS CYLD cutaneous syndrome SBS Spiegler-Brooke Syndrome	Cyld	74256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080785	Brown-Vialetto-Van Laere syndrome 1	rft-2	178842	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080785	Brown-Vialetto-Van Laere syndrome 1	Slc52a3	69698	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080785	Brown-Vialetto-Van Laere syndrome 1	SLC52A3	113278	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080785	Brown-Vialetto-Van Laere syndrome 1	Slc52a3	311536	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080785	Brown-Vialetto-Van Laere syndrome 1	slc52a3-1	678609	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080786	Brown-Vialetto-Van Laere syndrome 2	Slc52a2	52710	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080786	Brown-Vialetto-Van Laere syndrome 2	Slc52a2	362942	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080786	Brown-Vialetto-Van Laere syndrome 2	rft-2	178842	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080786	Brown-Vialetto-Van Laere syndrome 2	SLC52A2	79581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050694	Brown-Vialetto-Van Laere syndrome	SLC52A1 SLC52A2 SLC52A3	113278 55065 79581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050694	Brown-Vialetto-Van Laere syndrome	Slc52a2 Slc52a3	311536 362942	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050694	Brown-Vialetto-Van Laere syndrome	rft-2	178842	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050694	Brown-Vialetto-Van Laere syndrome	slc52a3-1 slc52a3-2b	431729 678609	Danio rerio (zebrafish)	Alliance of Genome Resources

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