GlyCosmos Portal

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

Displaying entries **11351 - 11375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:699	mitochondrial myopathy Aliases: mitochondrial cytopathy	Col15a1 Col18a1 Slc25a4	11739 12819 12822	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111949	immunodeficiency 36 Aliases: IMD36 activated phosphoinositide 3-kinase delta syndrome 2	Pik3r1	18708	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5015	fibrolamellar carcinoma Aliases: Fibrolamellar hepatocellular carcinoma Hepatocellular carcinoma, fibrolamellar Oncocytic Hepatocellular tumor	Car12 Ctnnb1 Fgfr1	12387 14182 76459	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4202	brain stem glioma Aliases: Brainstem Neuroglial tumor	Pdgfra	18595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080676	Stickler syndrome 1	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1206	Rett syndrome Aliases: Rett's disorder cerebroatrophic hyperammonemia	Adipoq Cdkl5 Mecp2	11450 17257 382253	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111647	Schopf-Schulz-Passarge syndrome Aliases: SSPS eccrine tumors-ectodermal dysplasia keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome	Wnt10a	22409	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080932	primary localized cutaneous amyloidosis 3 Aliases: Amyloidosis cutis dyschromica	Gpnmb	93695	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12971	hereditary spherocytosis Aliases: Congenital spherocytic hemolytic anemia Minkowski Chauffard syndrome spherocytic anemia	Slc4a1 Spta1	20533 20739	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060326	myelomeningocele	Slc2a1	20525	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:640	encephalomyelitis Aliases: Encephalitis &/or myelitis	Ikzf4 Spp1	20750 22781	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110403	retinitis pigmentosa 13 Aliases: RP13	Prpf8	192159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110896	inflammatory bowel disease 16 Aliases: IBD16	Tnfsf15	326623	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10964	cholesteatoma of middle ear Aliases: Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear middle ear cholesteatoma	Icam1 Il1a Il1r1 Il2 Mmp1a Mmp2 Mmp9 Rela Tlr2 Tlr4 Tnf Trp53 Vegfa	15894 16175 16177 16183 17390 17395 19697 21898 21926 22059 22339 24088 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111669	hyaline fibromatosis syndrome Aliases: HFS inherited systemic hyalinosis puretic syndrome systemic hyalinosis	Antxr2	71914	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081115	benign familial infantile seizures 2 Aliases: Benign Familial Infantile Seizures, 2	Prrt2	69017	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12932	endomyocardial fibrosis Aliases: African endomyocardial fibrosis Becker's disease Endomyocardial sclerosis obscure African cardiomyopathy	Ace Ccl2 Uts2r	11421 20296 217369	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13929	lacrimal duct obstruction Aliases: Blocked lacrimal canaliculus Obstruction of lacrimal canaliculus Obstruction of lacrimal ducts	Igsf3	78908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	A2m Acan Ache Adipoq Ager B4galt5 B4galt6 Bdnf Cacna1b Ccl1 Ccl2 Ccl7 Ccr5 Cd24a Cd28 Cd40 Cd46 Cd86 Cnp Col1a1 Cst3 Ctla4 Ctsb Fas Fasl Fcgr4 Gabra3 Gc Grm8 Grn H2-Aa H2-Ab1 H2-Ea H2-Eb1 H6pd Hdac1 Hsp90ab1 Hspa8 Ifnb1 Ifng Igf2 Il13 Il17a Il21r Il23r Il2ra Il4 Il4ra Irf5 Jag1 Mag Mbp Mmp12 Mmp9 Mog Nectin2 Nefh Nefl Ngfr Notch4 Pdcd1 Pla2g7 Prf1 Ptprc Rgma Shh Slc11a1 Spp1 Tlr4 Tnf Tnfrsf1a Tnfsf9	100198 100504404 11423 11450 11595 11596 12064 12287 12477 12484 12487 12524 12774 12799 12842 13010 13030 14102 14103 14396 14473 14823 14824 14960 14961 14969 15481 15516 15977 15978 16002 16163 16171 16184 16189 16190 16449 17136 17196 17221 17381 17395 17441 18039 18053 18132 18173 18566 18646 19264 19294 20290 20296 20306 20423 20750 209590 21898 21926 21937 21939 21950 232345 244058 246256 27056 27226 380684 433759 56336 56386 60504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110165	Charcot-Marie-Tooth disease type 2E Aliases: CMT2E Charcot-Marie-Tooth neuropathy type 2E autosomal dominant Charcot-Marie-Tooth disease type 2E	Nefl	18039	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	Pfkm	18642	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:480	movement disease	Drd2 Efnb3	13489 13643	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1727	retinal vein occlusion Aliases: Occlusion, of retinal vein	Aqp1 Aqp4 F2 F5 Itga2 Mmp2 Nrp1 Pon1 Serpinf1 Vegfa	11826 11829 14061 14067 16398 17390 18186 18979 20317 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081430	intellectual developmental disorder with autistic features and language delay, with or without seizures Aliases: IDDALDS	Tanc1 Tanc2	66860 77097	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12918	thromboangiitis obliterans Aliases: Buerger's disease Presenile gangrene	Ager Crhr1 H2-D1 H2-Eb1 H2-K1 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 Vcam1	110557 11596 12921 14964 14969 14972 15006 15007 15013 15015 15018 22329	Mus musculus (house mouse)	Alliance of Genome Resources

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