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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 **6926 - 6950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:10316	pneumoconiosis	H2-Ab1	14961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080143	congenital fibrosis of the extraocular muscles	Kif21a Tubb3	16564 22152	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050625	biliary tract benign neoplasm Aliases: extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct	Fasl Hgf Il4 Mtap Muc1 Muc4 Muc5ac	140474 14103 15234 16189 17829 17833 66902	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080726	Ehlers-Danlos syndrome classic type 2	Col5a2	12832	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050692	Brody myopathy	Atp2a1 Atp2a2 Atp2a3	11937 11938 53313	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3144	cutis laxa Aliases: loose skin	Atp7a Efemp1 Efemp2 Fbln5 Ltbp1 Ltbp4	108075 11977 216616 23876 268977 58859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090143	brachyolmia-amelogenesis imperfecta syndrome Aliases: DASS STHAG6 dental anomalies and short stature platyspondyly with amelogenesis imperfecta selective tooth agenesis 5	Ltbp3	16998	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9432	renal glycosuria Aliases: renal diabetes	Slc5a2	246787	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14040	autoimmune polyendocrine syndrome Aliases: Autoimmune polyglandular failure Lloyd's syndrome autoimmune polyendocrinopathy	H2-Aa H2-Ab1 H2-Eb1	14960 14961 14969	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111194	autosomal dominant adult-onset proximal spinal muscular atrophy Aliases: Finkel disease Finkel late-adult type SMA SMAFK autosomal dominant adult proximal spinal muscular atrophy autosomal dominant adult-onset proximal SMA autosomal dominant late-onset spinal muscular atrophy, Finkel type	Vapa	30960	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13481	thanatophoric dysplasia	Hspg2	15530	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111798	X-linked nephrolithiasis type I Aliases: NPHL1 X-linked nephrolithiasis with renal failure X-linked recessive urolithiasis type 1 XRN nephrolithiasis 1 nephrolithiasis X-linked recessive type 1	Clcn5	12728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:936	brain disease Aliases: encephalopathy	Cd163 Cpt2 Eno2 Mff Mycbp2 Nup214 Ppp2r2b Ranbp2 Slc6a4 Stim2 Ticam1 Tjp1 Unc93b1	105689 106759 116873 12896 13807 15567 19386 21872 227720 54445 72930 75734 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3892	insulinoma Aliases: Insulin-Producing tumor of Islet cells Islet cell adenoma	Btc Cux1 Ins1 Ins2 Ncam1 Slc2a2 Tgfa Tgfb1	12223 13047 16333 16334 17967 20526 21802 21803	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060956	dystonia 37, early-onset with striatal lesions	Nup54	269113	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080597	Kleefstra syndrome	Ehmt1	77683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	Cog6	67542	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090144	Donnai-Barrow syndrome Aliases: DBS/FOAR syndrome FOAR syndrome Holmes-Schepens syndrome diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria diaphragmatic hernia-exomphalos-hypertelorism syndrome diaphragmatic hernia-hypertelorism-myopia-deafness syndrome facio-oculo-acoustico-renal syndrome faciooculoacousticorenal syndrome syndrome of ocular and facial anomalies, telecanthus and deafness	Lrp2	14725	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2058	chronic mucocutaneous candidiasis	Il17f Il17rc	171095 257630	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3613	Canavan disease Aliases: ACY2 DEFICIENCY AMINOACYLASE 2 DEFICIENCY ASP DEFICIENCY ASPA DEFICIENCY ASPARTOACYLASE DEFICIENCY CANAVAN-VAN BOGAERT-BERTRAND DISEASE Spongy degeneration of central nervous system	Sod2	20656	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070210	hereditary lymphedema IA Aliases: LMPH1A	Flt4	14257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	Alg1 Alg3 B4galt1 Nus1 Pmm2	14595 208211 208624 52014 54128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111499	combined oxidative phosphorylation deficiency 37 Aliases: COXPD37	Micos13	224904	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12098	trigeminal neuralgia Aliases: Trifacial neuralgia trifocal neuralgia	Gabrg1	14405	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081421	familial focal epilepsy with variable foci 1	Depdc5	277854	Mus musculus (house mouse)	Alliance of Genome Resources

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