GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3826 - 3850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:070355	multisystem proteinopathy	YARS1	8565	Homo sapiens (human)	Alliance of Genome Resources
DOID:3457	invasive lobular carcinoma Aliases: Lobular carcinoma Lobular carcinoma of breast Lobular carcinoma of the breast	Cd44 Cdh1 Ctnnb1 Erbb2 Fasl Stat5a	12387 12505 12550 13866 14103 20850	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080005	bone remodeling disease	Idh2	269951	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1725	peritoneum cancer	Gp1ba Prg2	14723 19074	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	Dhtkd1	209692	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110731	neuronal ceroid lipofuscinosis 3 Aliases: Batten disease CLN3 juvenile neuronal ceroid lipofuscinosis	CLCN3 CLCN6 CLN3 PPT1	1182 1185 1201 5538	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	cacna1f.L	100462913	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0081156	common variable immunodeficiency 14	IRF2BP2	359948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110341	osteogenesis imperfecta type 2 Aliases: OI2 Vrolik type of osteogenesis imperfecta osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita	COL1A1 COL1A2 SMPD3	1277 1278 55512	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110229	cataract 6 multiple types Aliases: CTRCT6	EPHA2	1969	Homo sapiens (human)	Alliance of Genome Resources
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	DLAT PC PDHA1 PDHA2 PDHB PDHX PDP1	1737 5091 5160 5161 5162 54704 8050	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060807	syndromic X-linked intellectual disability Najm type Aliases: MICPCH X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome mental retardation and microcephaly with pontine and cerebellar hypoplasia	CASK	8573	Homo sapiens (human)	Alliance of Genome Resources
DOID:13481	thanatophoric dysplasia	Hspg2	15530	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110569	autosomal dominant nonsyndromic deafness 44 Aliases: DFNA44 autosomal dominant deafness 44	CCDC50	152137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060389	chromosome 10q23 deletion syndrome	Bmpr1a	12166	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:350	mastocytosis Aliases: mast cell hyperplasia	Il13	116553	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070480	schwannomatosis 1 Aliases: SMARCB1-related schwannomatosis SWN1	SNF5	852592	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:12236	primary biliary cholangitis Aliases: biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis	Abca1 Abcb4 Abcc2 Ace2 Ace Aqp4 Cd14 Cd68 Col1a1 Ctla4 Dag1 Dnase1 Entpd2 Fas Foxp3 H2-Aa Hhip Ifng Il10 Il12a Il12rb1 Il4 Krt18 Lbr Lep Lepr Mas1 Mmp13 Mmp2 Mmp9 Nos3 Nr3c1 Nup62 Ppargc1a Rela Ren1 Rps6kb1 Slco1a1 Slco1c1 Sod2 Tlr9 Tnf Vegfa	11303 11421 11829 12475 12477 12496 12514 12780 12842 13138 13419 14102 14815 14960 15245 15978 16153 16159 16161 16189 16668 16846 16847 17171 17386 17390 17395 18127 18226 18670 19017 19697 19701 20371 20656 21926 22339 28248 58807 70008 72508 81897 98386	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9521	Laron syndrome Aliases: Laron-type isolated somatotropin defect	Ghr	14600	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3981	pantothenate kinase-associated neurodegeneration Aliases: Hallervorden-Spatz disease Hallervorden-Spatz syndrome NBIA1 Pigmentary pallidal degeneration brain Iron Accumulation type I syndrome neurodegeneration with brain iron accumulation 1	Snca Sncb Sncg	113893 29219 64347	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050073	invasive aspergillosis	Cxcr3 Tlr4	29260 84475	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8465	retinoschisis	TYR	7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:2352	hemochromatosis Aliases: Haemochromatosis diabetes bronze iron storage disorder	TRE1 TRE2 VPS70	853590 854430 855927	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060674	catecholaminergic polymorphic ventricular tachycardia	TRDN	10345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110671	congenital myasthenic syndrome 6 Aliases: CMS Ia2 CMS1A2 CMS6 CMSEA FIM FIMG2 congenital myasthenic syndrome 6, presynaptic congenital myasthenic syndrome type Ia2 congenital presynaptic myasthenic syndrome associated with episodic apnea familial infantile myasthenia familial infantile myasthenia gravis 2	CHAT	1103	Homo sapiens (human)	Alliance of Genome Resources

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