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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 **7451 - 7475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111526	Mullerian aplasia and hyperandrogenism Aliases: Mullerian duct failure and hyperandrogenism WNT4 deficiency	Wnt4	22417	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080059	autosomal recessive spinocerebellar ataxia 7 Aliases: SCAR7	Tpp1	12751	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110337	osteogenesis imperfecta type 7 Aliases: OI7 osteogenesis imperfecta type VII	Crtap	56693	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050464	Farber lipogranulomatosis Aliases: Farber disease N-laurylsphingosine deacylase deficiency acid ceramidase deficiency	Asah1	11886	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1618	breast fibroadenoma Aliases: Complex Fibroadenoma of breast Fibroadenoma of breast Juvenile fibroadenoma cellular Fibroadenoma fibroadenoma juvenile fibroadenoma of breast	Wnt7b	22422	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080750	erythema nodosum	C3 Cfb H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Lta Tnf	110557 12266 14962 14964 14972 14990 15006 15007 15013 15015 15018 15043 16992 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1573	communicating hydrocephalus	Tmem67	329795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070338	cerebellar hypoplasia	Nav1	215690	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111444	progressive myoclonus epilepsy 4 Aliases: AMRF EPM4 Myoclonus-nephropathy syndrome action myoclonus-renal failure syndrome	Scarb2	12492	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2468	psychotic disorder Aliases: mental or behavioural disorder	Gdi1	14567	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081022	retinal cone dystrophy 3B Aliases: cone dystrophy with supernormal rod responses	Kcnv2	240595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110943	autosomal recessive osteopetrosis 2 Aliases: OPTB2 mild autosomal recessive form osteopetrosis osteoclast-poor osteopetrosis	Tnfsf11	21943	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2893	cervix carcinoma Aliases: cancer of cervix carcinoma cervix uteri carcinoma of cervix carcinoma of the Cervix Uteri	Cd9 Efemp2 Erap1 Ptgs1 Sparc	12527 19224 20692 58859 80898	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:0060411	chromosome 1q21.1 deletion syndrome Aliases: 1q21.1 microdeletion syndrome	Bcl9 Bcl9l	77578 80288	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:57	aortic valve insufficiency Aliases: Rheumatic aortic insufficiency Rheumatic aortic regurgitation Rheumatic aortic valve regurgitation aortic incompetence aortic insufficiency aortic regurgitation rheumatic aortic valve insufficiency	Mbl2	17195	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060013	X-linked severe combined immunodeficiency Aliases: SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia	Il2rg	16186	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	Hs6st1	50785	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112004	immunodeficiency 71 Aliases: IMD71 PLTEID immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	Arpc1b	11867	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4989	pancreatitis	Bdkrb2 Ccl2 Cnr2 Ctsl Egf Egfbp2 Egr1 Fga Fgb Fgg Hsp90ab1 Htr2a Icam1 Il10 Il13 Il15 Klk1 Klk1b11 Klk1b16 Klk1b1 Klk1b21 Klk1b22 Klk1b24 Klk1b26 Klk1b27 Klk1b3 Klk1b4 Klk1b5 Klk1b8 Klk1b9 Lepr Met Pdgfa Pdgfb Pparg Sell Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Serping1 Smo Tacr1 Tlr2 Tlr3 Tlr4 Vcam1	110135 12062 12258 12802 13039 13645 13646 13647 13648 13653 14161 142980 15516 15558 15894 16153 16163 16168 16612 16613 16615 16616 16617 16618 16619 16622 16623 16624 16847 17295 18048 18050 18590 18591 19016 20296 20343 20700 20701 20702 20703 20704 21336 21898 22329 24088 319757 99571	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111118	nephronophthisis 11 Aliases: NPHP11	Tmem67	329795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050851	glomerulosclerosis	Ace Agtr1a Agtr2 Col3a1 Hbegf Inf2 Mmp1a Mmp9 Pla2g7 Plekha7 Pparg Spp1	11421 11607 11609 12825 15200 17395 19016 20750 233765 27226 70435 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110453	dilated cardiomyopathy 1EE Aliases: CMD1EE	Myh6	17888	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110087	asphyxiating thoracic dystrophy 3 Aliases: ATD3 SRPS1 SRPS2B SRPS3 SRTD3 Saldino-Noonan syndrome Verma-Naumoff syndrome polydactyly with neonatal chondrodystrophy, type I polydactyly with neonatal chondrodystrophy, type III short rib-polydactyly syndrome, type I short rib-polydactyly syndrome, type IIB short-rib thoracic dysplasia 3 with or without polydactyly	Dync2h1	110350	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111234	congenital muscular dystrophy-dystroglycanopathy A7 Aliases: MDDGA7 Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7	Crppa	75847	Mus musculus (house mouse)	Alliance of Genome Resources

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