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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 **3651 - 3675** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	ABCB1 ACHE ALDH5A1 ALDH7A1 ANK2 ARX ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B3 ATP4B ATP6V0C AZGP1 BCHE BDKRB1 BDKRB2 BMP4 BSN C1QA CACNA1A CACNA1B CACNA1E CACNA2D2 CAMK2D CAPN1 CDK5 CDK5R2 CDYL CHKA CHKB CHL1 CIT CP DEPDC5 DHX9 DYNC1H1 EEF1A1 EEF1A2 ERBB4 ETNK1 ETNK2 FLNA FOS GABRB3 GABRG2 GAD1 GAD2 GAPDH GDNF GRIA1 GRIN1 GRIN2A GRIN2B GRIN2C GRIN2D GRM8 HES1 IL6 ITGA3 ITGA6 ITGA7 KALRN KCNA10 KCNA1 KCNA2 KCNA3 KCNA4 KCNA7 KCNH1 KCNH2 KCNH5 KCNH6 KCNH7 KCNK17 KCNK18 KCNT1 KCNT2 KIF4A L1CAM LGI1 LRP1 LRP1B MAP4K4 MAPT MIF MINK1 MMP9 NFASC NOS1 NOS2 NOS3 NRCAM NRG1 NUS1 PGF PPIA PRICKLE1 PRICKLE2 PRKG1 RAB3B RAC1 RAC2 RELA RHOG RIPK1 SCN10A SCN11A SCN1A SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A SIRT1 SLC12A1 SLC12A2 SLC12A3 SLC12A4 SLC12A5 SLC12A6 SLC12A7 SLC13A1 SLC13A3 SLC13A5 SLC1A1 SLC1A3 SLC1A4 SLC1A5 SLC1A6 SLC1A7 SLC24A3 SLC24A4 SLC25A6 SLC6A1 SLCO5A1 STRADA STXBP1 SV2A SYN2 TMTC3 TNF TNIK TRIO UBE3A UNC13A UNC13B	1020 10497 10723 10752 11113 1119 1120 11280 116150 123041 1356 144165 160418 1660 166336 170302 1778 1915 1917 2066 23025 23043 23114 2316 23411 2353 24137 2562 2566 2571 2572 2597 2668 27133 284111 287 2890 2902 2903 2904 2905 2906 2918 293 3084 3280 338567 343450 3569 3655 3675 3679 3736 3737 3738 3739 3743 3744 3756 3757 3897 391 4035 4137 4282 43 4318 476 477 481 482 483 4842 4843 4846 4897 496 501 50488 5228 5243 527 53353 5478 55224 55500 5592 563 57419 57468 57582 5865 5879 5880 590 5970 623 624 6323 6326 6328 6329 6331 6332 6334 6335 6336 64849 6505 6507 6509 6510 6511 6512 652 6529 6557 6558 6559 6560 6561 6812 6854 712 7124 7204 7337 773 774 777 7915 81033 817 81796 823 8737 8927 8941 89822 8997 90134 9211 92335 9254 9425 9448 9681 9900 9990	Homo sapiens (human)	Alliance of Genome Resources
DOID:1827	idiopathic generalized epilepsy Aliases: Generalised epilepsy	DNM1 GABRA1 HCN4 KCNMA1	10021 1759 2554 3778	Homo sapiens (human)	Alliance of Genome Resources
DOID:1837	diabetic ketoacidosis Aliases: DIABETES MELLITUS, KETOSIS-PRONE ketosis-prone diabetes mellitus	AQP2 SERPINA7	359 6906	Homo sapiens (human)	Alliance of Genome Resources
DOID:1838	Menkes disease Aliases: COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome	ATP7A ATP7B LOX	4015 538 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:1849	cannabis dependence	ABCB1 ACHE COMT NRG1	1312 3084 43 5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	ABCB11 ABCB4 ENTPD1 HSD3B7 SLC22A1 SLC22A2 SLC25A12 SLC25A13	10165 5244 6580 6582 80270 8604 8647 953	Homo sapiens (human)	Alliance of Genome Resources
DOID:1856	cherubism	SH3BP2	6452	Homo sapiens (human)	Alliance of Genome Resources
DOID:1858	McCune Albright syndrome Aliases: fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia	GNAI1 GNAI2 GNAI3 GNAT3 IGFBP3	2770 2771 2773 346562 3486	Homo sapiens (human)	Alliance of Genome Resources
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	ADAMTSL2 AGER AGT AKT1 BAD BAX CFL1 CNR1 EDN1 EDNRA HDAC3 HDAC4 IGFBP3 IL6 KDR MCAM NOS1 NOS2 NOS3 P2RY1 P2RY2 PDE5A PRKG1 SIRT1 TGFB1 THBD TNF XRCC1	1072 1268 177 183 1906 1909 207 23411 3486 3569 3791 4162 4842 4843 4846 5028 5029 5592 572 581 7040 7056 7124 7515 8654 8841 9719 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:1882	atrial heart septal defect Aliases: atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect	BMP4 GATA4 SOS1 TBX2	2626 652 6654 6909	Homo sapiens (human)	Alliance of Genome Resources
DOID:1883	hepatitis C Aliases: NANBH Viral hepatitis C chronic hepatitis C hepatitis C infection hepatitis nonA nonB	AFP APOA1 CCL5 CCR5 CD274 F2 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-G IFNA2 IFNAR1 IFNG IFNL1 IL10 IL12A IL13 IL2 IL4 IL6 IRF5 KIR2DS1 KIR3DL1 KIR3DS1 KLRC1 KLRK1 LDLR MBL2 MPL MYC NCR1 NCR3 PDCD1 PTX3 SAMHD1 STAT1 STAT2 TERT TLR3 TLR9 TREM1	1234 174 2147 22914 259197 25939 282618 29126 3117 3119 3123 3135 335 3440 3454 3458 3558 3565 3569 3586 3592 3596 3663 3806 3811 3813 3821 3949 4153 4352 4609 5133 54106 54210 5806 6352 6772 6773 7015 7098 9437	Homo sapiens (human)	Alliance of Genome Resources
DOID:1884	viral hepatitis Aliases: Viral hepatitis with hepatic coma animal viral hepatitis human viral hepatitis	IFNG IL2 STAT4 TERT	3458 3558 6775 7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:1891	optic nerve disease Aliases: disorder of the second nerve optic nerve disorder optic neuropathy	ACO2 AGER EDN1	177 1906 50	Homo sapiens (human)	Alliance of Genome Resources
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	PPARGC1A	10891	Homo sapiens (human)	Alliance of Genome Resources
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	AGER ASS1 ATRX BMP4 BRCA2 BRD2 BRD4 CAT CD40 CHI3L1 CTLA4 EHMT2 ELN ERCC5 ESR1 FAS FASLG FLT1 GALC GGT1 GPER1 HLA-DQA1 ICAM1 IL1RN ING3 JUNB KDM2A KDR KIT LRP1B LTA MC1R MGMT MITF NFKB1 NRAS NUF2 PPARGC1A RHOB RNASET2 SETDB1 SOD2 SOX2 SPP1 TERT TLR4 TP53 TYR VEGFA	10891 10919 1116 1493 177 2006 2073 2099 22992 2321 23476 2581 2678 2852 3117 3383 355 3557 356 3726 3791 3815 388 4049 4157 4255 4286 445 4790 4893 53353 54556 546 6046 652 6648 6657 6696 675 7015 7099 7157 7299 7422 83540 847 8635 958 9869	Homo sapiens (human)	Alliance of Genome Resources
DOID:1911	endodermal sinus tumor Aliases: Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor	AFP CTNNB1 FGF8 SALL4 WNT2B	1499 174 2253 57167 7482	Homo sapiens (human)	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	APRT HPRT1	3251 353	Homo sapiens (human)	Alliance of Genome Resources
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	ABCG2 APOE HAVCR1 INS LCN2 SLC22A2 SLC2A9 STAT3	26762 348 3630 3934 56606 6582 6774 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:1923	disorder of sexual development Aliases: sex development disorder sex differentiation disease	AMH CYP19A1 HSD17B3	1588 268 3293	Homo sapiens (human)	Alliance of Genome Resources
DOID:1924	hypogonadism	CYP11A1 EDN1 HSD3B1 IL6 KISS1R LEP PRKG1	1583 1906 3283 3569 3952 5592 84634	Homo sapiens (human)	Alliance of Genome Resources
DOID:1925	Coffin-Siris syndrome Aliases: Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia.	ARID1A BICRAL SMARCC1 SMARCC2 SMARCD1 SMARCD2	23506 6599 6601 6602 6603 8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	GBA1 PKLR TNF	2629 5313 7124	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	ASAH1 SPNS1 SPNS2	124976 427 83985	Homo sapiens (human)	Alliance of Genome Resources
DOID:1928	Williams-Beuren syndrome Aliases: Fanconi Schlesinger syndrome WBS	BAZ1B BUD23 CLIP2 EIF4H ELN FZD3 FZD9 GTF2I LIMK2 LOX NOP2 NSUN5 SRC	114049 2006 2969 3985 4015 4839 55695 6714 7458 7461 7976 8326 9031	Homo sapiens (human)	Alliance of Genome Resources
DOID:1929	supravalvular aortic stenosis Aliases: Supra-valvular aortic stenosis	CASQ2 ELN	2006 845	Homo sapiens (human)	Alliance of Genome Resources

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