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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 **4201 - 4225** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:6406	double outlet right ventricle Aliases: Dextrotransposition of aorta Double outlet right ventricle with subpulmonary ventricular septal defect Taussig-Bing syndrome or defect	CFC1 CFC1B ECE1	1889 55997 653275	Homo sapiens (human)	Alliance of Genome Resources
DOID:6419	tetralogy of Fallot Aliases: Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle	BMP10 CFC1B DNAH5 DOCK1 FGF8 GATA4 HIRA INVS JAG1 MTHFD1 NRP1 NTF3 PHC1 POPDC1 PTPN11	11149 1767 1793 182 1911 2253 2626 27130 27302 4522 4908 5781 653275 7290 8829	Homo sapiens (human)	Alliance of Genome Resources
DOID:6420	pulmonary valve stenosis	SOS1	6654	Homo sapiens (human)	Alliance of Genome Resources
DOID:643	progressive multifocal leukoencephalopathy	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:6432	pulmonary hypertension	ACE2 ACVRL1 ADM AGER AGT AGTR1 AHR ALAS1 ALOX5 ANGPT1 ANGPT2 ATP5F1A BDKRB2 BMPR1A BMPR1B BMPR2 CASR CAVIN1 CCDC80 CCL2 CCL5 CCN2 CD209 CD28 CD40 CD40LG CD86 CDH5 CDKN1B CLU COL1A1 COL4A1 CSF3 CTNND1 CX3CL1 CXCR4 CYBB CYP1A1 CYP2J2 CYSLTR1 ECE1 EDN1 EDN2 EDNRA EDNRB EGFR EGR1 EPAS1 EPHX2 EPO ESR1 F5 FGFR1 GATA4 GPR182 HAS1 HAS2 HAS3 HDAC1 HDAC2 HDAC3 HDAC4 HIF1A HK1 HMGB1 HMGCR HP HYAL1 HYAL2 ICAM1 IFNGR1 IL10 IL13 IL13RA1 IL13RA2 IL1RN IL23R IL6 KCNK3 LCN2 MIF MMP1 MMP9 MTOR MYC NAMPT NFATC2 NOS2 NOS3 NOX1 NPPA NPPB PDE3A PDE5A PDGFA PDGFB PDIA3 PECAM1 PGF PTGIS PTGS2 PTK2 RAMP2 RELA RHOA RYR1 RYR2 RYR3 SERPINA1 SERPINE1 SLC1A5 SLC2A4 SLC6A4 SLC8A1 SMAD4 SMAD6 SMPD3 TACR1 TACR2 TEK TERT TGFB1 TGFBR1 TGFBR2 THBD THPO TNC TNF TP53BP1 TRPC3 TRPC6 TWIST1 VCAM1 VEGFB VIM VWF	1003 10135 10266 1027 10800 11318 1191 1277 1282 133 1440 1490 149233 1500 151887 1536 1543 1573 177 183 185 1889 1906 1907 1909 1910 1956 1958 196 2034 2053 2056 2099 211 2153 2260 240 2475 2626 27035 284 284119 285 2923 3036 3037 3038 3065 3066 30835 3091 3098 3146 3156 3240 3371 3373 3383 3459 3557 3569 3586 3596 3597 3598 3777 387 3934 4089 4091 4282 4312 4318 4609 4773 4843 4846 4878 4879 498 5054 5139 5154 5155 5175 5228 5265 55512 5740 5743 5747 59272 5970 624 6261 6262 6263 6347 6352 6376 6510 6517 6532 6546 657 658 659 6865 6869 7010 7015 7040 7046 7048 7056 7066 7124 7158 7222 7225 7291 7412 7423 7431 7450 7852 846 8654 8692 8841 94 940 942 958 959 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:6457	Cowden syndrome Aliases: Cowden disease Lhermitte-Duclos disease dysplastic Gangliocytoma of Cerebellum	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:646	viral encephalitis Aliases: epidemic encephalitis	E2F1 MMP9	1869 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:648	kuru Aliases: kuru encephalopathy	PRNP	5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:649	prion disease Aliases: Prion disease pathway Prion protein disease Spongiform Encephalopathy prion induced disorder transmissible spongiform encephalopathy	CX3CL1 SOD1 USP14	6376 6647 9097	Homo sapiens (human)	Alliance of Genome Resources
DOID:6498	seborrheic keratosis	ANXA1 PIK3CA	301 5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:65	connective tissue disease Aliases: connective tissue disorder disorder of connective tissue	FBN1 FBN2 FBN3 LTF SNRPA1 SNRPA SNRPB2 SNRPC SNRPD1	2200 2201 4057 6626 6627 6629 6631 6632 84467	Homo sapiens (human)	Alliance of Genome Resources
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	ATIC PNP UMPS	471 4860 7372	Homo sapiens (human)	Alliance of Genome Resources
DOID:654	overnutrition	NOS3	4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:6543	acne Aliases: Acne varioliformis acne vulgaris frontalis acne	CAT IL17A IL4R TLR2 TLR4 TNF TNFRSF1A TNFRSF1B	3566 3605 7097 7099 7124 7132 7133 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	BCHE GPHN HSD11B2 LIG1 MMAB NDUFS1 SLC22A5 SLC25A19	10243 326625 3291 3978 4719 590 60386 6584	Homo sapiens (human)	Alliance of Genome Resources
DOID:657	adenoma Aliases: acinar cell adenoma acinic cell adenoma adenomas	APC EFEMP1 NCAM1	2202 324 4684	Homo sapiens (human)	Alliance of Genome Resources
DOID:6595	gastric tubular adenocarcinoma Aliases: tubular adenocarcinoma of stomach	GLI1 SMO	2735 6608	Homo sapiens (human)	Alliance of Genome Resources
DOID:66	muscle tissue disease	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:6612	leukocyte adhesion deficiency Aliases: Congenital leukocyte adherence deficiency	ITGB2	3689	Homo sapiens (human)	Alliance of Genome Resources
DOID:6652	diffuse idiopathic skeletal hyperostosis Aliases: Ankylosing vertebral hyperostosis DISH Disseminated idiopathic skeletal hyperostosis	SLC29A1	2030	Homo sapiens (human)	Alliance of Genome Resources
DOID:668	myositis ossificans Aliases: Myisitis ossificans Ossification - muscle	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:6683	X-linked Aarskog syndrome Aliases: Aarskog-Scott syndrome Greig's syndrome	FGD3	89846	Homo sapiens (human)	Alliance of Genome Resources
DOID:6688	autoimmune lymphoproliferative syndrome Aliases: ALPS Canale-Smith syndrome	FAS FASLG	355 356	Homo sapiens (human)	Alliance of Genome Resources
DOID:670	amphetamine abuse	AKT1 BDNF CAT CD4 CD8A CFH COMT CREB1 FOS FOSB GABBR1 GABRG2 GAD1 GAD2 GRIA1 MAP3K6 NPY1R SLC18A1 SLC18A2 SNCA	1312 1385 207 2353 2354 2550 2566 2571 2572 2890 3075 4886 627 6570 6571 6622 847 9064 920 925	Homo sapiens (human)	Alliance of Genome Resources
DOID:6713	cerebrovascular disease Aliases: CVA cerebrovascular disorder stroke	AGT AGTR1 APOE ARHGEF7 G6PD GLCE GPX3 GRP LMNA NR1H3 P2RY12 SELE	10062 183 185 2539 26035 2878 2922 348 4000 6401 64805 8874	Homo sapiens (human)	Alliance of Genome Resources

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