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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 **5676 - 5700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	Acvr2b Cc2d1a Cep290 Cfc1 Cox5a Dnah11 Dnah5 Dnai1 Drc1 Gdf1 Megf8 Mmp21 Nodal Pcsk5 Phka2 Slit2 Tmem67 Zic3	110082 110094 11481 12627 12858 13411 14559 18119 18552 20563 212139 214766 216274 22773 269878 329795 381738 68922	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111402	mucopolysaccharidosis type IIID Aliases: GNS deficiency MPS IIID MPS3D Mucopolysaccharidosis type 3D N-acetylglucosamine-6-sulfatase deficiency Sanfilippo syndrome D Sanfilippo syndrome type D	Gns	75612	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8725	vascular dementia Aliases: Multi Infarct Dementia multifocal dementia	Atp5f1a Avp Bdnf Epo Fgfr1 Flt1 Gclm Gpx1 Grin1 Grin2a Grin2b Gsk3b Hspa1a Igf1r Mapt Mmp2 Mtor Nefl Nox1 Pon2 Rps6 Snca Sncg Srebf2 Tnf Trp53	11946 11998 12064 13856 14182 14254 14630 14775 14810 14811 14812 16001 17390 17762 18039 193740 20104 20617 20618 20788 21926 22059 237038 330260 56637 56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2914	immune system disease	Pou2f1	18986	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13515	tuberous sclerosis Aliases: Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis	Bmp4 Eif4ebp1 Mmp9 Tsc1	12159 13685 17395 64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110659	congenital myasthenic syndrome 7 Aliases: CMS7 congenital myasthenic syndrome 7 presynaptic	Syt1 Syt2	20979 20980	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112193	tetraamelia syndrome 2 Aliases: TETAMS2 tetra-amelia with pulmonary hypoplasia tetraamelia with pulmonary hypoplasia	Rspo2	239405	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050117	disease by infectious agent Aliases: infectious disease	Mbl2 Serpind1	15160 17195	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8440	ileus Aliases: Ileus of intestine	Kit Mmp9 Nos3	16590 17395 18127	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:7693	abdominal aortic aneurysm Aliases: AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1	Ace Ahcy Ahcyl Ccl2 Csf2 Dab2ip Ezh2 Fasl Folh1 Fto H2-Aa H2-Eb1 Ifng Il10 Itgam Itgav Kng2 Lox Mmp12 Mmp13 Mmp1a Mmp2 Mmp8 Mmp9 Mthfd1 P2ry12 Pla2g7 Pon1 Postn Sell Sod2 Sort1	108156 11421 11615 12981 14056 14103 14960 14969 15978 16153 16409 16410 16948 17381 17386 17390 17394 17395 18979 20296 20343 20656 20661 26383 269378 27226 385643 50706 53320 69601 70839 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080909	castration-resistant prostate carcinoma	Stat5a	20850	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060917	facioscapulohumeral muscular dystrophy 3 Aliases: FSHD3 facioscapulohumeral muscular dystrophy type 3	Lrif1	321000	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13938	amenorrhea Aliases: absence of menstruation amenia	Fshb	14308	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080690	RASopathy Aliases: RAS/mitogen-activated protein kinase syndrome	Kras Map2k1 Rreb1	16653 26395 68750	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050948	autosomal dominant hypophosphatemic rickets	Fgf23	64654	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080287	spinocerebellar ataxia 45	Fat2	245827	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	Abcc8 Agtr2 Akt2 Cyp2c29 Epo Gck Glud1 Grin2b Ppp1r3a Th	103988 11609 11652 13095 13856 140491 14661 14812 20927 21823	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060374	orofaciodigital syndrome IV Aliases: Baraitser-Burn syndrome OFD4	Tctn3	67590	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070229	intrahepatic cholestasis of pregnancy 3 Aliases: ICP3 pregnancy related cholestasis 3	Abcb4	18670	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12712	nephronophthisis Aliases: medullary cystic disease medullary cystic kidney	Tmem67 Ttc21b Wwtr1	329795 73668 97064	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11506	suppurative otitis media Aliases: Otitis media with effusion - purulent Purulent otitis media	Ifng Tlr2 Tlr4	15978 21898 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110480	autosomal recessive nonsyndromic deafness 22 Aliases: DFNB22 autosomal recessive deafness 22	Otoa	246190	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9119	acute myeloid leukemia Aliases: AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia	Abcc3 Abcg2 Abl1 Asxl1 Calr Cbl Ccl2 Cd86 Cdh1 Cfhr1 Chi3l1 Csf2 Csf3 Csf3r Ctla4 Cxcr4 Cyp1a1 Dnmt1 Ephx1 Ezh2 F3 Fanca Fas Fermt2 Fgfr1 Flt3 Gpi1 Gpx1 Gsr H2-Ab1 Idh1 Idh2 Il10 Il1a Itgav Itgb3 Kit Kras Lpp Mllt10 Ncoa2 Nf1 Nos3 Npm1 Nup214 Nup98 Picalm Sh3gl1 Sod2 Tet2 Tfpi2 Tfr2 Tnfsf9 Top2a Top2b Trp53 Vegfa	11350 12317 12402 12477 12524 12550 12654 12767 12981 12985 12986 13076 13433 13849 14056 14066 14087 14102 14182 14255 14751 14775 14782 14961 15926 16153 16175 16410 16416 16590 16653 17354 17978 18015 18127 18148 20296 20405 20656 210126 214133 21789 218952 21950 21973 21974 22059 22339 227720 228790 233489 26357 269951 269966 50702 50765 76408	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090126	branched-chain keto acid dehydrogenase kinase deficiency Aliases: BCKDK deficiency BCKDKD autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Bckdk	12041	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13608	biliary atresia Aliases: Atresia of bile duct Congenital biliary atresia biliary atresia, congenital	Adipoq Cd14 Dlk1 Ggt1 Gli2 Icam1 Shh Spint1 Spint2 Spp1 Tgfb1	11450 12475 13386 14598 14633 15894 20423 20732 20733 20750 21803	Mus musculus (house mouse)	Alliance of Genome Resources

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