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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 **8651 - 8675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070505	mitochondrial complex IV deficiency nuclear type 20 Aliases: MC4DN20	Cox5a	12858	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060488	Pitt-Hopkins syndrome	Cntnap2 Tcf12 Tcf4	21406 21413 66797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080384	nephrotic syndrome type 6	Ptpro	19277	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060367	Parkinson's disease 1 Aliases: autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1	Snca	20617	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8483	retinal artery occlusion	Il10	16153	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4074	pancreatic adenocarcinoma Aliases: pancreas adenocarcinoma	Adgrb1 Akt3 Cxcr4 Hrg Map2k1 Nfkb1 Plat Vegfc	107831 12767 18033 18791 22341 23797 26395 94175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	Mfrp Prph2 Rho	19133 212541 259172	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111462	cardiofaciocutaneous syndrome 3 Aliases: CFC3	Map2k1	26395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3507	dermatofibrosarcoma protuberans	Col1a1 Pdgfb	12842 18591	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111169	subcortical band heterotopia Aliases: HeCo band heterotopia double cortex syndrome heterotopic cortex subcortical laminar heterotopia	Eml1	68519	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070367	leukoencephalopathy with vanishing white matter 5 Aliases: Cree leukoencephalopathy	Eif2b5	224045	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1003	pelvic inflammatory disease Aliases: PID	Il4 Ptx3	16189 19288	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110339	osteogenesis imperfecta type 3 Aliases: OI3 osteogenesis imperfecta type III progressively deforming osteogenesis imperfecta with normal sclera	Col1a1 Col1a2	12842 12843	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060419	chromosome 3q29 microdeletion syndrome Aliases: 3q subtelomere deletion syndrome 3q29 microdeletion syndrome 3q29 recurrent deletion 3qter deletion	Bdh1 Dlg1 Dlg2 Dlg4 Hsd17b2 Hsd17b6 Inhca Ltf Meltf Slc51a Trf	106407 13383 13385 15486 17002 22041 23859 27400 30060 71775 71911	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080429	developmental and epileptic encephalopathy 24 Aliases: DEE24 early infantile epileptic encephalopathy 24	Hcn1	15165	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060966	dystonia 22, juvenile-onset	Tspoap1	207777	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110728	neuronal ceroid lipofuscinosis 5 Aliases: CLN5 neuronal ceroid lipofuscinosis 5 variable age of onset	Cln5	211286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11294	arteriovenous malformation Aliases: Arteriovenous hemangioma Cirsoid aneurysm Racemose Angioma Racemose aneurysm Racemose hemangioma	Acvrl1 Eng Map2 Mmp9 Tek	11482 13805 17395 17756 21687	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3798	pleural empyema Aliases: Empyema of pleura Empyema of pleura without fistula Empyema with no fistula Empyema with pleural fistula Empyema without mention of fistula Empyema, chest Pleural empyema with fistula Purulent pleurisy Thorax abscess abscess of pleural cavity abscess of thorax empyema empyema with fistula lung empyema pleural empyema with no fistula purulent pleuritis pyothorax	Tnc Trem1	21923 58217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails Aliases: EBD, Bart type epidermolysis bullosa dystrophica, Bart type	Col7a1	12836	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080450	developmental and epileptic encephalopathy 17 Aliases: DEE17 early infantile epileptic encephalopathy 17	Gnao1	14681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060239	Van der Woude syndrome	Grhl3	230824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	Nedd4 Scnn1a Scnn1b Scnn1g Wwp2	17999 20276 20277 20278 66894	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080471	developmental and epileptic encephalopathy 92	Gabrb2	14401	Mus musculus (house mouse)	Alliance of Genome Resources

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