GlyCosmos Portal

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

Displaying entries **5301 - 5325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0070069	autosomal dominant intellectual developmental disorder 39 Aliases: MRD39 autosomal dominant mental retardation 39 autosomal dominant non-syndromic intellectual disability 39	Myt1l	17933	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:0070417	neurodevelopmental disorder with speech impairment and dysmorphic facies Aliases: NEDSID	Setd1a Setd1b	208043 233904	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0002116	pterygium Aliases: surfer's eye	Kdr Mmp2 Mmp9 Ogg1 Pecam1 Trp53 Vegfa Vegfc	16542 17390 17395 18294 18613 22059 22339 22341	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:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	Acan Adamts4 Adamts5 Aspn Col1a1 Col2a1 Fos Gsk3b Mmp13 Mmp1a Ngf Ngfr Pappa Postn Timp1	11595 12824 12842 14281 17386 18049 18053 18491 21857 23794 240913 50706 56637 66695 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110593	autosomal dominant nonsyndromic deafness 9 Aliases: DFNA9 autosomal dominant deafness 9	Coch	12810	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:0050120	hemophagocytic lymphohistiocytosis Aliases: haemophagocytic syndrome	Cd163 Elp1	230233 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110928	nemaline myopathy 2 Aliases: NEM2 congenital myopathy 2 nemaline myopathy 2, autosomal recessive	Neb	17996	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110909	inflammatory bowel disease 25 Aliases: IBD25 early onset autosomal recessive inflammatory bowel disease 25	Il10rb	16155	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111813	syndactyly type 8 Aliases: fusion of metacarpals 4 and 5 metacarpal 4-5 fusion	Fgf16	80903	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:0111950	immunodeficiency 29 Aliases: IL12B deficiency IMD29 MSMD due to complete IL12B deficiency MSMD due to complete interleukin 12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency immunodeficiency 29, mycobacteriosis	Il12b	16160	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111542	familial expansile osteolysis Aliases: FEO McCabe disease hereditary expansile polyostotic osteolytic dysplasia	Tnfrsf11a	21934	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1687	neovascular glaucoma Aliases: secondary angle-closure glaucoma with rubeosis	Vegfa	22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6196	reactive arthritis Aliases: Fiessinger Leroy Reiter syndrome Post-bacterial arthropathy Reiter disease Reiter's disease postdysenteric arthropathy	Cyp1a1 H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Sod2	110557 13076 14964 14972 14990 15006 15007 15013 15015 15018 15043 20656	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:0111243	acromicric dysplasia Aliases: ACMICD acromicric skeletal dysplasia	Fbn1	14118	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:0110456	dilated cardiomyopathy 1R Aliases: CMD1R	Actc1	11464	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:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	Ace Acvr2b Add1 Arid1a Atp2b1 Atp2b2 Atp2b4 C3 Ccn3 Cd274 Cd40 Cd40lg Cd46 Chi3l1 Clu Comt Corin Cst3 Cubn Dab2ip Ebi3 Eng Entpd1 Ephx1 Erbb2 Esr2 F2 F2r F3 F5 Fas Fasl Flt1 Gc Gpx1 Gpx4 Gsn H2-Ab1 H2-D1 H2-K1 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 Hp Hsd11b1 Icam1 Il1rn Itga4 Itgam Itpr1 Itpr3 Lcn2 Lep Lepr Mmp2 Mmp9 Nos3 Notch2 Ogg1 Pdcd1 Pgf Plaur Pml Pparg Proc Ptgs1 Ptpn2 Rbp4 Robo1 Robo4 Ryr1 Ryr2 Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Serpinf2 Slc2a1 Stox1 Tfpi Timp1 Tlr3 Tlr4 Tnf Tnfrsf1b Trpv6 Vegfa	110557 11421 11481 11518 11941 12266 12495 12654 12759 12846 13010 13805 13849 13866 13983 14061 14062 14066 14067 14102 14103 14254 142980 14473 14775 14961 14964 14972 15006 15007 15013 15015 15018 15439 15483 15894 16181 16401 16409 16438 16440 16819 16846 16847 17221 17390 17395 18127 18129 18133 18294 18566 18654 18793 18816 18854 19016 19123 19224 19255 19662 19876 20190 20191 20525 20700 20701 20702 20703 20704 216021 21788 21857 21898 21926 21938 21939 21947 22339 227753 381290 50498 53419 60533 625249 64177 65969 67972 69601 74144 93760	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:0111865	MEND syndrome Aliases: male EBP disorder with neurological defects	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources

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