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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 **5226 - 5250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:10783	methemoglobinemia	APRT CYB5R3 CYP1A2 DLD G6PC1 G6PD	1544 1727 1738 2538 2539 353	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:12451	sulfhemoglobinemia	APRT CYB5R3 CYP1A2 DLD G6PC1 G6PD	1544 1727 1738 2538 2539 353	Homo sapiens (human)	DisGeNET
DOID:10907	microcephaly Aliases: Microcephalus microencephaly	ACADSB ACE ACSF3 AGA ALDH3A2 ALDH6A1 ALG11 ALG13 ALG1 ALG3 ALG9 ATP6V0A2 ATP6V1A B3GALNT2 B3GLCT B4GAT1 CAT CH25H CHKA CHKB CNTN2 COG4 COG5 COG6 COG7 COG8 COMT CPT2 CRPPA CYB5R3 DAG1 DGCR2 DHCR24 DHCR7 DHDDS DLAT DLD DPAGT1 DPM1 ETNK1 ETNK2 EXT1 EXT2 FAR1 FH FIG4 FKRP FKTN FUT8 G6PC3 GAD1 GAS1 GBA1 GLYCTK GMPPA GMPPB GNPAT HMGCL HSPG2 ICAM1 INPP5K KDSR L1CAM LARGE1 LDHD LFNG LMAN2L LSS LTC4S MAN1B1 MASP1 MBOAT7 MGAT2 MPDU1 MSMO1 MYORG NANS NDST1 NGLY1 NSDHL NTNG1 OGT PAFAH1B1 PARP11 PDHA1 PDHX PGAP1 PGD PIGC PIGH PIGP PIGQ PIGS PIGY PIK3CB PISD PMM2 POFUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RFT1 RXYLT1 SC5D SDHB SDHD SELENOI SGPL1 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SMC3 SMPD3 SMPD4 ST3GAL3 ST3GAL5 STT3A STT3B SUCLA2 SUMF1 SYNJ1 TECR TUSC3 XYLT1	10195 10329 10466 10559 10585 11041 1119 1120 11253 1312 132158 1376 145173 148789 1605 1636 1717 1718 1727 1737 1738 175 1798 197257 197322 201595 2131 2132 2218 224 2271 22854 23443 23509 23545 23761 2530 2531 2571 25839 2619 2629 285362 29925 29926 29954 3155 3339 3340 3383 36 3703 3897 3955 4047 4056 4247 4329 440138 5048 50814 51227 5160 51763 5226 523 5279 5283 5291 5373 54187 55224 55343 55500 55512 55624 55627 55768 56052 5648 57097 5728 57462 57511 6307 6309 6390 6392 64131 6487 6900 729920 7355 79143 79147 79796 79868 7991 79947 80055 8050 81562 84188 84197 84342 8443 847 8473 84892 84992 85465 8803 8813 8867 8869 8879 9023 9091 9126 91869 91949 9215 92579 94005 9524 9526 9896 9993	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:61	mitral valve disease Aliases: Mitral RH valve dis. Rheumatic mitral insufficiency Rheumatic mitral valve changes Rheumatic mitral valve regurgitation chronic rheumatic mitral valve disease of mitral valve rheumatic disease of mitral valve rheumatic mitral valve incompetence	ACACA ACE	1636 31	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:988	mitral valve prolapse Aliases: Barlow's syndrome floppy mitral valve	ABO ACE AGA B3GALT6 B3GAT3 CHST3 DSE ENPP1 G6PC3 GLA HADHA HADHB IDUA PLD1 PRKAA2 SCD XYLT1 XYLT2	126792 1636 175 26229 2717 28 29940 3030 3032 3425 5167 5337 5563 6319 64131 64132 92579 9469	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:11502	mitral valve insufficiency Aliases: Congenital insufficiency of mitral valve Mitral valve incompetence congenital mitral insufficiency congenital mitral regurgitation mitral regurgitation	ABO ACE AGA B3GALT6 B3GAT3 CHST3 DSE ENPP1 G6PC3 GLA HADHA HADHB IDUA PLD1 PRKAA2 SCD XYLT1 XYLT2	126792 1636 175 26229 2717 28 29940 3030 3032 3425 5167 5337 5563 6319 64131 64132 92579 9469	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1754	mitral valve stenosis Aliases: Mitral stenosis	ACE CAT CD14 CD1D CHI3L1 CHST3 COMT CYP2R1 GBA1 KLRB1 LALBA PLD1 SLC2A4 SULT1E1 XYLT1 XYLT2	1116 120227 1312 1636 2629 3820 3906 5337 64131 64132 6517 6783 847 912 929 9469	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3492	mixed connective tissue disease Aliases: Connective tissue disease overlap syndrome mixed collagen vascular disease	NCAM1 SFTPD TNF	4684 6441 7124	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:452	pleomorphic adenoma Aliases: mixed tumor of the Salivary gland	ALDH3A1 B3GAT1 CD44 FASN HPGDS HPRT1 NANS PIK3CA PTEN PTGS2 STS TM7SF2 XYLT1 XYLT2	218 2194 27087 27306 3251 412 5290 54187 5728 5743 64131 64132 7108 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:7442	monoclonal gammopathy of uncertain significance Aliases: MGUS Monoclonal gammopathy of undetermined significance	CANX CD38 CLEC12A COLEC10 ENPP1 FUT4 GPNMB HAS1 KL KLRK1 LPL MAG NCAM1 PARP1 PNP PRSS21 SDC1 TNKS	10457 10584 10942 142 160364 22914 2526 3036 4023 4099 4684 4860 5167 6382 821 8658 9365 952	Homo sapiens (human)	DisGeNET
DOID:2951	motion sickness Aliases: Travel Sickness	GPD2	2820	Homo sapiens (human)	DisGeNET
DOID:13711	dental fluorosis Aliases: Intrinsic enamel discolouration of fluorosis Mottled teeth Mottling of enamel	ACAN COMT HPGDS MMP25	1312 176 27306 64386	Homo sapiens (human)	DisGeNET
DOID:403	mouth disease	PTGS2	5743	Homo sapiens (human)	DisGeNET
DOID:480	movement disease	ACHE ACO2 ALDH5A1 ALDH7A1 CYB5R3 CYP1A2 CYP21A2 DHCR7 FOLR2 G6PD GBA1 GCDH GLUL HEXA HPRT1 MAN2B1 NGLY1 NTNG1 OGDH PAFAH1B1 PDHA1 PGAP3 PIGN PLB1 PMM2 PPT1 PRNP PSAP PTEN SGSH SLC26A2 SLC2A3 SUCLA2	151056 1544 1589 1717 1727 1836 22854 2350 23556 2539 2629 2639 2752 3073 3251 4125 43 4967 50 501 5048 5160 5373 5538 55768 5621 5660 5728 6448 6515 7915 8803 93210	Homo sapiens (human)	DisGeNET
DOID:13099	Moyamoya disease Aliases: progressive intracranial arterial occlusion	GLA PKD1 SLC2A10 SMPDL3B	2717 27293 5310 81031	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12904	mucocele of salivary gland Aliases: Mucous retention cyst of salivary gland Ranula Salivary Cyst Salivary gland mucocele	NT5E	4907	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13378	Kawasaki disease Aliases: Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome	ABO ACE ACHE ADIPOQ AMACR ATP6AP2 CAT CD14 CD177 CD209 CEACAM5 CERS6 CHI3L1 CLEC6A CLEC7A CYP2C9 CYP2E1 FCER2 FCGR3B FCN1 FUT1 GAPDH GLB1 HSD11B2 ICAM1 IL1R1 IL1RAP ITPKC KLRC1 KLRK1 LDHA MBL2 MDGA1 NCAM1 OLR1 PGK1 PLA2G7 PLCB1 PLCB4 PTGS2 SDC1 SELE SELP SLC35F5 ST6GAL1 STS TLR4 TNF ULBP1 VCAM1	10159 1048 1116 1559 1571 1636 2208 2215 2219 22914 23236 23600 2523 253782 2597 266727 2720 28 30835 3291 3383 3554 3556 3821 3939 412 4153 43 4684 4973 5230 5332 57126 5743 6382 6401 6403 64581 6480 7099 7124 7412 7941 80255 80271 80329 847 929 9370 93978	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:12798	mucopolysaccharidosis	ACAN AGA APRT ARSA ARSB ARSG ARSH ARSK CANX CAT CD1D CD38 CTSA DPEP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1	10020 10724 138050 153642 159371 175 176 1800 1836 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 5476 6448 6677 79158 821 84572 847 8692 912 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9538	multiple myeloma Aliases: myeloma	ABO ACE ACSBG1 ALOX5 ALPI ALPP AMY1A AMY1B AMY1C ANXA5 APRT B3GAT1 BST2 CANX CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD74 CEACAM6 CHI3L1 CHPT1 CLEC12A COLEC10 CPT1C CRYBG1 CYP1A1 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP3A4 DCN DHCR24 DHDDS DLD ENO1 ENPP1 ENPP2 EXT1 FASN FCER2 FCGR3B FDPS FH FOLR1 FOLR2 FUT1 G6PD GAPDH GBA1 GLB1 GLO1 GPX1 GPX3 HAS1 HAS2 HK1 HK2 HMMR HPGDS HPSE2 HPSE ICAM1 IDH1 IDH2 IDUA IGF2R IL1RL1 INPP5D INPPL1 KL KLRB1 KLRC1 KLRK1 LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LPL MBL2 MCAT MICA MINPP1 MMP25 MPG MRC1 NAGLU NAMPT NCAM1 NEIL1 OGA PAFAH1B1 PARP14 PARP1 PCYT1A PFKFB3 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLAUR PPT2 PRKAA2 PSAP PSMD10 PTEN PTGS1 PTGS2 RECK RENBP RPIA SDC1 SELE SELL SELP SIGLEC1 SIRT6 SLC2A12 SLC2A4 SLC2A8 SLC35A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST3GAL6 TDG TNF TNFRSF10C TNKS TP53 TYMP UGCG ULBP2 VCAM1 VCAN	100507436 10135 10402 10584 10724 10855 1116 113829 126129 142 1462 154091 1543 1545 1555 1557 1558 1559 1576 160364 1634 1636 1718 1738 1890 200576 202 2023 2131 2194 2208 2215 2224 2271 22914 22934 23205 2348 2350 23583 240 248 250 2523 2539 2597 2629 27087 2720 27306 27349 2739 276 277 278 28 2876 2878 29988 3036 3037 308 3098 3099 3161 3383 3417 3418 3425 3482 353 3635 3636 3820 3821 3939 3956 3958 3960 3964 3965 4023 4153 4350 4360 4669 4680 4684 5048 5130 51548 5167 5168 5209 5277 5290 5291 5293 5294 5315 5329 54625 5552 5563 5660 56848 56994 5716 5728 5742 5743 5973 60495 6382 6401 6402 6403 64386 6517 6609 6614 6646 684 6996 7124 7157 7357 7412 79661 79947 80328 821 8434 847 8658 8794 8877 912 9173 929 933 9365 9374 945 952 9562 960 962 972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	ABO ACAN ACE ACHE ACO2 ACOT7 ADIPOQ AGA AKR1B1 ALOX15 ALOX5 AMACR AMT ANXA5 APRT ARSA ARSF ATP6AP2 B3GAT1 B4GALT5 B4GALT6 BST2 CANX CAT CD14 CD177 CD1D CD38 CD44 CD48 CD74 CEACAM5 CEACAM7 CEMIP CERS2 CERS6 CH25H CHAT CHGA CHI3L1 CHIT1 CLEC12A CLEC16A CLEC4E CNTN1 COLEC12 COMT CPT1A CSGALNACT1 CSGALNACT2 CYP17A1 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2R1 CYP3A4 CYP46A1 CYP7A1 CYP7B1 DCN DHCR24 DHCR7 DHRS11 DLD ENO1 ENPP2 FCGR3B FH FOLR2 GAD1 GAD2 GALC GANAB GAPDH GBE1 GLA GLO1 GPC5 GPI H6PD HPGDS HPRT1 HPSE HSD17B6 HSD17B7 ICAM1 ICAM5 IGF2 IL18R1 INPP4B ISYNA1 ITLN1 KL KLRB1 KLRC1 KLRD1 KLRK1 LALBA LDHA LGALS1 LGALS3 LGALS8 LGALS9 LPL MAG MANBA MASP1 MASP2 MBL2 MGAT1 MGAT5 MICA MMP25 MOGAT1 NCAM1 NCAN NT5E OGG1 OLR1 PARP1 PC PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLD1 PPT2 PRNP PSMD10 PTGES PTGS2 QTRT1 RGMA RGMB RTN4R SDC1 SELE SELP SEMA7A SGPL1 SHMT1 SIGLEC1 SIRT2 SLC2A4 SMPD1 SOAT1 SPHK1 SPHK2 ST8SIA1 SUMF1 TALDO1 TKT TLR4 TMED5 TNF TNFRSF10C TPI1 VCAM1	100507436 10159 1048 10747 10855 10858 1087 1103 1113 1116 1118 11332 116255 120227 1272 1312 1374 142 1463 151056 1545 1555 1557 1559 1576 1581 1586 1589 1591 1593 1594 160364 1634 1636 1717 1718 1738 175 176 2023 2215 2262 2271 22914 22933 231 23193 23274 2350 23600 240 246 253782 2571 2572 2581 2597 26253 2632 27087 2717 27306 2739 275 28 2821 285362 285704 29956 308 3251 3383 3481 353 3820 3821 3824 3906 3939 3956 3958 3964 3965 4023 4099 410 4126 4153 416 4245 4249 43 4684 4907 4968 4973 50 5091 50999 5105 51477 51478 5168 5290 5291 5293 5294 5319 5320 5321 5337 55454 55600 55790 5621 5648 56848 56963 57126 5716 57214 5743 6382 6401 6403 64386 6470 6489 65078 6517 6609 6614 6646 684 6888 7086 7087 7099 7124 7167 7412 79154 7941 81035 81890 821 8398 847 8482 8630 8794 8809 8821 8877 8879 9023 912 929 9331 9334 9365 9370 9374 9420 952 9536 9563 960 962 972	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10264	mumps	ICAM1 IL18R1 MRC1 SOAT1	3383 4360 6646 8809	Homo sapiens (human)	DisGeNET
DOID:4873	anterior horn cell disease	ACHE APRT ASAH1 CAT CLEC10A DAG1 FCN2 FIG4 GAL3ST1 GFRA1 HEXB HK2 MTMR4 NT5E OGA PNPLA6 SARM1 SLC35A1 TIGAR TMED9	10462 10559 10724 10908 1605 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9110 9514 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	DAG1 MTMR4 PNPLA6	10908 1605 9110	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:12377	spinal muscular atrophy	ACHE ALPI ALPP ARSF ASAH1 CALR CANX CAT CHODL CNTN1 FCN2 FUT1 GAPDH GM2A HEXA HEXB HSPG2 KDSR LGALS3 PGK1 PRNP PTEN PTGS2	1272 140578 2220 248 250 2523 2531 2597 2760 3073 3074 3339 3958 416 427 43 5230 5621 5728 5743 811 821 847	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1029	familial periodic paralysis	ACACA ACADM ACADS ACADVL ACE AGK AGL AGPAT2 AKR1A1 ALG14 ALG2 ANXA5 B3GALNT2 B4GALT1 CAT CD109 CD38 CHST14 CNTN1 COL9A2 COLEC12 CPT2 CRPPA CYP2B6 CYP2E1 CYP3A4 CYP3A5 DAG1 DCN DGAT1 DPAGT1 FKRP FKTN G6PC1 G6PD GAA GBE1 GFPT1 GMPPB GNE GYG1 HADHA HADHB HPGDS INPP5K LARGE1 LDHA LPIN1 LPIN2 MGAM MTM1 MTMR14 MTMR2 NCAM1 PGAM2 PGK1 PGM1 PIK3C2A PKD1L2 PNPLA2 POMGNT1 POMT1 POMT2 PRKAA2 PRNP PTEN PTGS2 PYGM SDHA SFTPA1 SFTPC SI SMUG1 TM7SF2 TPI1	10020 10327 10555 10585 113189 114780 1272 1298 135228 1376 148789 1555 1571 1576 1577 1605 1634 1636 178 1798 199857 2218 23175 23583 2538 2539 2548 2632 2673 2683 27306 2992 29925 29954 3030 3032 308 31 34 35 37 3939 4534 4684 51763 5224 5230 5236 5286 55624 5563 55750 5621 57104 5728 5743 5837 6389 6440 64419 6476 653509 7108 7167 729920 79147 81035 847 85365 8694 8898 8972 9215 952 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET

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