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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 **1401 - 1425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:2679	dysembryoplastic neuroepithelial tumor Aliases: Dysembryoplastic Neuroepithelial neoplasm dysembryoplastic neuroepithelial tumour	Braf	109880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111460	cardiofaciocutaneous syndrome 1 Aliases: CFC1	Braf	109880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14755	argininosuccinic aciduria Aliases: Argininosuccinate lyase deficiency argininosuccinic acidemia arginosuccinase deficiency deficiency of argininosuccinate lyase	Asl	109900	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11832	visual epilepsy Aliases: epilepsy, visual	ABAT ABCB1 ABCC2 ABCC8 ADAMTS1 APEX1 APP ASPM BAD BAG3 BRD1 C7 CDKL5 CHRNA3 CIT CNTNAP2 CSTB DKK1 DRD3 EGR1 ENO2 EPO ERBB4 FAS FCGR2A FCGR3A FGFR1 GABBR1 GAP43 GLUD1 GLUD2 GLUL GRIA1 GRIK5 GRM8 HCN1 HCN2 HDAC2 HRH3 HSPA1A HSPA5 IFNG IL6R IL6ST KCNA1 KCNJ11 KDM3B L2HGDH MAP1B MARCKS MBD3 MECP2 MSH2 NFE2L2 NGFR NPY1R NPY5R NR3C1 NRG1 PAFAH1B1 PAWR PCSK1 PDGFB PLD1 PLD2 PLP1 PRICKLE1 PTGS2 PTPRZ1 REG3G RRM1 RTN4 SCN2B SLC12A2 SLC38A1 SLC38A2 SLC38A3 SLC6A11 SMO SPP1 SREBF2 SYT1 SYT4 TACR3 TNF TNFRSF1A TNFRSF1B TUBA1A VDAC1 VDAC2 VTN WFS1 WNT2 XRCC1 YWHAZ	10991 11113 11255 1136 1244 130120 144165 1476 18 1814 1958 2026 2056 2066 2212 2214 2260 22943 23774 2550 259266 2596 26047 2746 2747 2752 2890 2901 2908 2918 3066 3084 328 3303 3309 3458 348980 351 355 3570 3572 3736 3767 4082 4131 4204 4436 4780 4804 4886 4889 5048 5074 5122 5155 51780 5243 5337 5338 5354 53615 54407 57142 572 5743 5803 610 6240 6327 6538 6558 6608 6696 6721 6792 6833 6857 6860 6870 7124 7132 7133 730 7416 7417 7448 7466 7472 7515 7534 7846 79944 81539 9510 9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	DAB2 EDN1 MYH9 RHCG SLC38A3 SLC4A1	10991 1601 1906 4627 51458 6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070388	developmental and epileptic encephalopathy 102 Aliases: DEE102 early infantile epileptic encephalopathy 102	SLC38A3	10991	Homo sapiens (human)	Alliance of Genome Resources
DOID:2907	Goldenhar syndrome Aliases: Facio-auriculo-vertebral spectrum First AND second branchial arch syndrome First arch syndrome HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis	FGR HCK SF3B2 SRC	10992 2268 3055 6714	Homo sapiens (human)	Alliance of Genome Resources
DOID:12798	mucopolysaccharidosis	Arsg Arsk Gusb Hyal1	110006 15586 74008 77041	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12803	Sly syndrome Aliases: MPS VII - Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII	Gusb	110006	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112199	spondyloepimetaphyseal dysplasia with joint laxity type 2 Aliases: SEMD-MD SEMDJL2 spondyloepimetaphyseal dysplasia with joint laxicity, Hall type spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type	Kif22	110033	Mus musculus (house mouse)	Alliance of Genome Resources
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:10754	otitis media	Bpifa1 Btc Ctsb Ctsk Ctsl Dnah5 Enpp1 Eya4 Fgfr1 Icam1 Idua Ifng Il10 Il1a Lmna Mbl2 Muc1 Muc4 Muc5ac Muc5b Naglu Nisch Phex Rela Sall4 Scn2b Sh3pxd2b Tlr2 Tlr4 Tnf	110082 12223 13030 13038 13039 140474 14051 14182 15894 15932 15978 16153 16175 16905 17195 17829 17833 18605 18675 18843 19697 21898 21926 24088 268396 27419 64652 72821 74180 99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050144	Kartagener syndrome Aliases: Kartagener's syndrome	Dnah11 Dnah5 Dnai1 Drc1 Mbl2 Slit2	110082 13411 17195 20563 381738 68922	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9562	primary ciliary dyskinesia Aliases: ciliary motility disorder immotile ciliary syndrome	Brwd1 Cfap74 Dnah5 Pcsk5 Slit2	110082 18552 20563 544678 93871	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110599	primary ciliary dyskinesia 3 Aliases: CILD3 primary ciliary dyskinesia 3 with or without situs inversus	Dnah5	110082	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3388	periodontal disease Aliases: disease of supporting structures of teeth periodontium disorder	BRINP3 CD40LG CD80 DSPP IL15 IL16 IL17A IL19 IL21 IL24 IL6 IL7	11009 1834 29949 339479 3569 3574 3600 3603 3605 59067 941 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	Phka2	110094	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3650	lactic acidosis	Dlat Pygl	110095 235339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	Pygl	110095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	AP2M1 AUTS2 CAMK2G DIP2B GRIA1 HNRNPC KMT2B LMAN2L MBD5 MED13 RFX7 SET SETD2 SRRM2 TAF4 TLK2 TRIO ZNF292	11011 1173 23036 23524 26053 2890 29072 3183 55777 57609 6418 64864 6874 7204 81562 818 9757 9969	Homo sapiens (human)	Alliance of Genome Resources
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	Mpi Taldo1 Tpi1	110119 21351 21991	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	Mpi	110119	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	Adipoq Ager Apob Ccl2 Cd40lg Cfh Cfhr4 Ddah1 Enpp1 Fgb Fto Gipr Gpx1 Gys1 Hp Hspa1a Lipg Mpo Plaur Pparg Ppargc1a Ptgs2 Tlr9 Usf1	110135 11450 11596 12628 14775 14936 15439 16891 17523 18605 18793 19016 19017 19225 193740 20296 214403 21947 22278 238055 26383 381853 69219 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3407	carotid artery disease Aliases: disorder of carotid artery	Ager Agtr1a Agtr1b Cd14 Cd40lg Cd63 Ctss Fgb Hgf Hspd1 Hspg2 Il10 Lta Ltb4r1 Lum Mmp1a Mmp2 Mmp8 Mmp9 Nampt Pappa Pgf Pla2g7 Pparg Ptgds Sod2 Srebf2 Tgfb1 Tlr4 Tnfrsf11b Ucp2 Vcam1 Vwf	110135 11596 11607 11608 12475 12512 13040 15234 15510 15530 16153 16992 16995 17022 17390 17394 17395 18383 18491 18654 19016 19215 20656 20788 21803 21898 21947 22228 22329 22371 27226 59027 83995	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

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