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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3726 - 3750** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0080005	bone remodeling disease	IDH2	3418	Homo sapiens (human)
DOID:8616	Peyronie's disease Aliases: Induratio penis plastica Peyronie disease Peyronie's Fibromatosis	DCN LIPA PARP1	142 1634 3988	Homo sapiens (human)
DOID:9562	primary ciliary dyskinesia Aliases: ciliary motility disorder immotile ciliary syndrome	AKR1C4 CEL ICAM1 INPP5E MBL2 NCAM1 NT5E NTM PARP9 PNPLA2 SCD5 SDC1 SLC27A5	1056 10998 1109 3383 4153 4684 4907 50863 56623 57104 6382 79966 83666	Homo sapiens (human)
DOID:0080302	mixed sleep apnea Aliases: complex sleep apnea	ACE CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LGALS3 NANS PTEN PTGS2	10020 1544 1573 1636 3423 3958 54187 55556 5728 5743 79158	Homo sapiens (human)
DOID:4972	myelodysplastic/myeloproliferative neoplasm Aliases: Myeloproliferative/Myelodysplastic syndromes myelodysplastic myeloproliferative cancer	NCAM1 PAFAH1B1	4684 5048	Homo sapiens (human)
DOID:1770	toxic megacolon	SMC3	9126	Homo sapiens (human)
DOID:0111418	familial apolipoprotein C-II deficiency Aliases: C-II anapolipoproteinemia familial APOC2 deficiency familial apoC-II deficiency hyperlipoproteinemia, type 1b hyperlipoproteinemia, type Ib	LPL	4023	Homo sapiens (human)
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	RXYLT1	10329	Homo sapiens (human)
DOID:9553	adrenal gland disease	SDHB	6390	Homo sapiens (human)
DOID:1798	pancreatic endocrine carcinoma Aliases: Islet cell carcinoma carcinoma of endocrine pancreas malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma	CEACAM5 CEACAM7 CHPT1 DHDDS	1048 1087 56994 79947	Homo sapiens (human)
DOID:9957	periostitis	DPEP1	1800	Homo sapiens (human)
DOID:0050589	inflammatory bowel disease	ABO ACACA ACAT1 ACAT2 ACE ACHE ACO2 ACSBG1 ACSL1 ACSS2 ADIPOQ AGA AKR1B10 ALDH5A1 ALDOB ALOX5 ALPI ALPP AMACR AMT AMY1A AMY1B AMY1C ARSA ARSF ASAH2 ATP6V0A2 B3GAT1 BCKDHA C1GALT1C1 CALR CAT CBR1 CD14 CD1D CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CERS2 CHGA CHI3L1 CHPT1 CHST15 CHST2 CLEC10A CLEC12A CLEC16A CLEC7A CPT1A CTBS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP4F3 CYP7B1 DAG1 DHDDS DLD DPEP1 EFNA5 ELOVL7 ENO1 EPHX2 FADS1 FADS2 FASN FCER2 FCGR3B FCN2 FCN3 FH FUT2 FUT3 FUT4 G6PC3 GAL3ST1 GAL3ST2 GALC GALM GALNT2 GAPDH GGT1 GLB1 GP2 GPX1 GPX2 GUSB HADHA HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDUA IGF2 IL18R1 IL18RAP IL1R1 IL1RL1 IL1RL2 INPP5D IPMK ISYNA1 ITLN1 KLRK1 L1CAM LACC1 LCT LGALS1 LGALS2 LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 MCAT ME1 MGAT1 MGAT3 MGAT5 MGLL MICA MPG MRC1 MTMR3 MUTYH NAAA NAMPT NCAM1 NEU1 NPL NT5E OGG1 PAFAH1B1 PARP1 PC PCYT1B PGAP3 PGD PGP PIGA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PNPLA3 PRKAA2 PRNP PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG1B RFT1 SDC1 SELE SELL SFTPA1 SFTPD SGPP1 SGPP2 SLC2A3 SLC2A5 SLC35A1 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK1 ST6GALNAC1 STS SUCLA2 SULT1E1 TBXAS1 TIGAR TKT TNF TNFRSF10C TUSC3 UGT1A1 UGT1A7 ULBP1 UST VCAM1 VCAN VNN1 YDJC	100507436 10090 1012 10135 10462 1048 10559 10715 10747 10855 1087 1113 1116 11343 130367 130589 1374 140733 142 144811 1462 1486 150223 151056 1543 1555 1557 1559 1571 1573 1576 1577 1588 1589 1594 160364 1604 1605 1636 1738 175 1800 1946 2023 2053 2180 2194 2208 2215 2220 2271 229 22914 23205 23274 23545 23583 23600 23659 240 248 250 2524 2525 2526 253430 2581 2590 2597 2678 27087 27163 2720 27306 27349 275 276 277 278 28 2813 283871 2876 2877 29071 2990 29956 3030 30835 31 3161 3251 3290 3291 3383 3384 3417 3418 3425 3481 3554 3635 38 3897 39 3938 3956 3957 3958 3960 3965 3992 4023 4048 4051 4069 410 412 4153 416 4199 4245 4248 4249 43 4350 4360 4595 4680 4684 4758 4907 4968 50 5048 5091 51363 51477 5226 5277 5289 5290 5291 5293 5294 5315 5319 5320 5321 5336 54577 54658 55600 5563 55808 55902 5621 5660 56624 56994 57016 57103 5716 5728 5730 5742 5743 593 5968 6382 6401 6402 64090 64116 6441 64581 6515 6518 653509 6609 6646 6783 6916 7086 7124 7412 7915 7941 7991 79947 79993 80329 80339 80896 811 81537 8398 8399 847 8529 8547 8692 873 8794 8803 8807 8808 8809 8876 8877 8897 912 9173 91869 92579 929 93210 9370 9415 9420 9435 945 9468 9514 952 9536 960 9663 972	Homo sapiens (human)
DOID:9498	pulmonary eosinophilia	ALPL CEL CHI3L1 IL1R1 IL1RL1 ISYNA1 PARP9 SIGLEC8 SIRT2 SLC27A5	1056 10998 1116 22933 249 27181 3554 51477 83666 9173	Homo sapiens (human)
DOID:0111154	postural orthostatic tachycardia syndrome Aliases: familial orthostatic tachycardia due to norepinephrine transporter deficiency irritable heart mitral valve prolapse syndrome orhtostatic intolerance orthostatic intolerance due to NET deficiency postural tachycardia syndrome due to NET deficiency soldiers heart	ABO ACE B3GAT3 CHST3 CYP11B2 DSE ENPP1 HEXB OLR1 PAFAH1B1 PLD1 PRKAA2 SCD XYLT1 XYLT2	1585 1636 26229 28 29940 3074 4973 5048 5167 5337 5563 6319 64131 64132 9469	Homo sapiens (human)
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	HPRT1	3251	Homo sapiens (human)
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	APRT CD14 CD38 CEL CNTN2 DHDDS ENO2 FH G6PD HSD17B6 IDH1 IDH2 MRC1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PTEN SDHB SDHC SDHD SMUG1 SORD	1056 2026 2271 23583 2539 3417 3418 353 4360 5226 5290 5291 5293 5294 5310 5728 6390 6391 6392 6652 6900 79947 8630 929 952	Homo sapiens (human)
DOID:331	central nervous system disease	ABO ACE ACHE ACO2 ALDH3A2 ALDH7A1 ARSA ARSB B4GALNT1 BST2 CACNA2D2 CD1D CD38 CD44 CDH13 CH25H CHAT CHI3L1 CHKB COL9A2 COLGALT1 COMT CPT1B CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 CYP3A4 DEGS1 DLD EBP ECHS1 ELOVL4 ENO2 ENPP2 EPM2A FCN2 GAD1 GAD2 GALNT14 GBA1 GBA2 GCDH GLB1 GLUL GOLPH3 GPC5 GPI GPX1 GUSB HK1 HPGDS HPRT1 HS6ST3 ICAM1 IDH2 IDH3A IDS IDUA INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MBL2 MDGA2 MGAT1 MGLL NAGA NCAM1 NCAN NDST3 NEU3 NYX OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 RTN4R SARM1 SEMA7A SGSH SHMT1 SIGLEC7 SIRT2 SLC17A5 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 SUMF1 TMED9 TPI1	1012 10558 10682 10724 10825 10908 1103 1116 1120 11343 1298 1312 1375 142 1463 149175 151056 1544 1555 1558 1559 1576 1593 161357 1636 1727 1738 1892 2026 2220 224 2262 22933 23098 23583 2571 2572 2583 2629 2639 26503 266722 27036 2720 27306 2752 28 2821 283871 284098 285362 2876 2990 3098 3251 3383 3418 3419 3423 3425 3636 3897 4069 4099 410 411 4126 4153 4245 43 4668 4684 4860 4967 50 501 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 60506 64083 64116 6448 6470 65078 6517 6609 6785 684 7167 7903 7957 79623 79709 8398 8399 8482 8560 8803 9023 912 9254 9348 9365 952 960	Homo sapiens (human)
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	GALNT3 LSS	2591 4047	Homo sapiens (human)
DOID:11994	atrophy of testis	AKR1A1 ALDH2 CHST3 HMMR HPRT1	10327 217 3161 3251 9469	Homo sapiens (human)
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	ALG3 MPDU1 PMM2	10195 5373 9526	Homo sapiens (human)
DOID:8590	acute vascular insufficiency of intestine Aliases: acute GIT vascular insuffic. acute gastrointestinal tract vascular insuffic. acute intestinal Ischemia acute intestinal vascular insufficiency	PCYT1A	5130	Homo sapiens (human)
DOID:0060378	orofaciodigital syndrome VIII Aliases: OFD8	CD38 FUT1	2523 952	Homo sapiens (human)
DOID:1036	chronic leukemia	HMMR	3161	Homo sapiens (human)
DOID:13382	megaloblastic anemia Aliases: Grasbeck-Imerslund syndrome Imerslund-Grasbeck syndrome MGA1 Norwegian type RH-MGA1 megaloblastic anaemia recessive hereditary megaloblastic anaemia 1 recessive hereditary megaloblastic anemia 1	HPRT1 UMPS	3251 7372	Homo sapiens (human)
DOID:0060330	Rapp-Hodgkin syndrome Aliases: RHS anhidrotic ectodermal dysplasia with cleft lip/palate ectodermal dysplasia syndrome, Rapp-Hodgkin type ectodermal dysplasia, Rapp-Hodgkin type	DHCR7	1717	Homo sapiens (human)

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