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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 **13176 - 13200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110555	autosomal dominant nonsyndromic deafness 25 Aliases: DFNA25 autosomal dominant deafness 25	slc17a8	563467	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:9784	trichinosis Aliases: Trichinella spiralis infection	slc17a8	563467	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:5463	cochlear disease	slc17a8	563467	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050566	X-linked nonsyndromic deafness Aliases: X-linked deafness	PRPSAP1	5635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050777	Joubert syndrome Aliases: JBTS	4933427D14Rik Arl3	56350 74477	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110415	retinitis pigmentosa 2 Aliases: RP2	Arl3	56350	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112140	retinitis pigmentosa 83 Aliases: RP83	Arl3	56350	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110143	Bartter disease type 2 Aliases: BARTS2 Bartter syndrome type 2 Bartter syndrome type 2 antenatal hyperprostaglandin E syndrome 2 hypokalemic alkalosis with hypercalciuria 2 antenatal	Kcnj1	56379	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050453	lissencephaly	pomgnt1 pomt1 pomt2	563878 569769 571876	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	pomt1 pomt2	563878 569769	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	poglut1 pomt2	563878 641495	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	pomt2	563878	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	pomt2	563878	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	pomt2	563878	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110336	osteogenesis imperfecta type 8 Aliases: OI8 osteogenesis imperfecta type VIII	P3h1	56401	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111634	autosomal recessive nonsyndromic deafness 99 Aliases: DFNB99 autosomal recessive deafness 99	tmem132e	564044	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	b3glcta b3glctb	564156 799443	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050629	Aicardi-Goutieres syndrome Aliases: AGS Cree encephalitis	Adar	56417	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060257	dyschromatosis symmetrica hereditaria Aliases: reticulate acropigmentation of Dohi	Adar	56417	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110722	neuronal ceroid lipofuscinosis 7 Aliases: CLN7	mfsd8	564342	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:769	neuroblastoma	ltk	564470	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112283	spondyloepiphyseal dysplasia Kondo-Fu type Aliases: SED with elevated blood lysosomal enzymes SEDKF	Mbtps1	56453	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110825	hereditary spastic paraplegia 9B Aliases: SPG9B autosomal recessive complex spastic paraplegia type 9B autosomal recessive spastic paraplegia 9B	Aldh18a1	56454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070131	autosomal dominant cutis laxa 3 Aliases: ADCL3	Aldh18a1	56454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070143	autosomal recessive cutis laxa type III Aliases: De Barsy syndrome cutis laxa-corneal clouding-intellectual disability syndrome	Aldh18a1	56454	Mus musculus (house mouse)	Alliance of Genome Resources

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