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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 **726 - 750** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0060221	Maffucci syndrome	EXT1 EXT2 IDH1 IDH2	2131 2132 3417 3418	Homo sapiens (human)
DOID:0060762	restrictive dermopathy Aliases: Infantile restrictive dermopathy Lethal tight skin contracture syndrome hyperkeratosis-contracture syndrome lethal restrictive dermopathy tight skin contracture syndrome	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	POMT2	29954	Homo sapiens (human)
DOID:0080531	dedifferentiated liposarcoma	CALR ENPP2 FASN KL PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN SDC1 STS	142 2194 412 5168 5290 5291 5293 5294 5716 5728 6382 811 9365	Homo sapiens (human)
DOID:14443	cholinergic urticaria	CEACAM5 CLEC10A MGLL	10462 1048 11343	Homo sapiens (human)
DOID:0111131	focal segmental glomerulosclerosis 6 Aliases: FSGS6	ACE	1636	Homo sapiens (human)
DOID:2512	nevoid basal cell carcinoma syndrome Aliases: Gorlin syndrome NBCCS basal cell nevus syndrome	CYP1A1 CYP2B6 GAS1 GLB1 GPC3 HPSE SLC2A3	10855 1543 1555 2619 2719 2720 6515	Homo sapiens (human)
DOID:0060192	Crohn's colitis	ABO ACACA ACAT1 ACE ACO2 ACSBG1 ACSS2 ALDH5A1 ALOX5 ALPI ALPP AMT ARSA ATP6V0A2 BCKDHA CBR1 CD14 CD209 CD33 CD38 CD44 CDH13 CEACAM6 CERS1 CHI3L1 CHPT1 CHST15 CLEC10A CLEC12A CLEC16A CYP19A1 CYP1A1 CYP27B1 CYP2J2 CYP3A4 CYP4F2 CYP4F3 DAG1 DHDDS DPEP1 EPHX2 FADS1 FADS2 FCGR3B FCN2 FCN3 FH FUT2 FUT3 G6PC3 GAL3ST2 GALM GALNT2 GAPDH GLB1 GP2 GPX1 GUSB HMMR HPGDS HPSE HSD11B2 ICAM1 IDH1 IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D IPMK ITLN1 KLRK1 LACC1 LCT LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 MGLL MICA MTMR3 NEU1 NPL NT5E PAFAH1B1 PARP1 PGAP3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCG2 PTEN PTGDS PTGS2 REG1B RFT1 SDC1 SELL SFTPD SLC39A8 SMUG1 SOAT1 SUCLA2 TKT TNFRSF10C UGT1A1 UGT1A7 ULBP1 UST VCAM1	100507436 10090 1012 10462 10715 10747 10855 1116 11343 130589 140733 142 144811 151056 1543 1573 1576 1588 1594 160364 1605 1636 1800 200576 2053 2215 2220 2271 22914 23205 23274 23545 23583 23659 240 248 250 2524 2525 253430 2590 2597 2720 27306 275 28 2813 2876 2990 30835 31 3161 3291 3383 3417 3554 3635 38 3938 3958 3960 3965 3992 4023 4048 4051 4069 410 4153 4680 4758 4907 50 5048 51363 5290 5291 5293 5294 5315 5319 5320 5321 5336 54577 54658 55600 55902 56994 5728 5730 5743 593 5968 6382 6402 64090 64116 6441 6646 7086 7412 7915 79947 80329 80896 8398 8399 8529 8547 873 8794 8803 8807 8809 8897 9173 91869 92579 929 93210 9415 945 952 960 9663	Homo sapiens (human)
DOID:790	ocular hypotension Aliases: Hypotony of eye	ACE PRNP	1636 5621	Homo sapiens (human)
DOID:4762	vasculogenic impotence	APOD	347	Homo sapiens (human)
DOID:0081223	glycosylphosphatidylinositol biosynthesis defect 16 Aliases: Intellectual developmental disorder, autosomal recessive 62	PIGC	5279	Homo sapiens (human)
DOID:5830	cervical endometrioid adenocarcinoma Aliases: endometrioid carcinoma of the Cervix Uteri	PTEN	5728	Homo sapiens (human)
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy A14 Aliases: MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14	GMPPB	29925	Homo sapiens (human)
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	AGA CALR ECI1 FUT3 GMPPA	1632 175 2525 29926 811	Homo sapiens (human)
DOID:0050585	congenital generalized lipodystrophy	AGPAT2 AGPS PCYT1A PNPLA2	10555 5130 57104 8540	Homo sapiens (human)
DOID:4610	intestinal benign neoplasm Aliases: intestinal tumors intestine growth neoplasm of intestinal tract	B4GALNT1 CEACAM5 DCN EFNA1 GPX1 GPX2 HPGDS PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PRSS8 PTGDS PTGS2 SHMT1 SMC3 TIGAR	1048 1634 1942 2583 27306 2876 2877 5290 5291 5293 5294 5320 5652 57103 5730 5743 6470 9126	Homo sapiens (human)
DOID:0110634	congenital muscular dystrophy 1B Aliases: CMD1B MDC1B congenital muscular dystrophy type 1B	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110892	inflammatory bowel disease 1 Aliases: IBD1	ABO ACACA ACAT1 ACAT2 ACE ACHE ACO2 ACSBG1 ACSS2 AGA AKR1B10 ALDH5A1 ALDOB ALOX5 ALPI ALPP AMACR AMT AMY1A AMY1B AMY1C ARSA ATP6V0A2 B3GAT1 BCKDHA CAT CBR1 CD14 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CHGA CHI3L1 CHPT1 CHST15 CHST2 CLEC10A CLEC12A CLEC16A CLEC7A CTBS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP4F3 CYP7B1 DAG1 DHDDS DLD DPEP1 EFNA5 ENO1 EPHX2 FADS1 FADS2 FASN FCGR3B FCN2 FCN3 FH FUT2 FUT3 FUT4 G6PC3 GAL3ST1 GAL3ST2 GALM GALNT2 GAPDH GLB1 GP2 GPX1 GPX2 GUSB HMMR HPGDS HPSE HSD11B2 ICAM1 ICAM2 IDH1 IDUA IL18R1 IL18RAP IL1R1 IL1RL1 IL1RL2 INPP5D IPMK ISYNA1 ITLN1 KLRK1 LACC1 LCT LGALS1 LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 ME1 MGAT5 MGLL MICA MPG MTMR3 MUTYH NAAA NAMPT NEU1 NPL NT5E OGG1 PAFAH1B1 PARP1 PCYT1B PGAP3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PTEN PTGDS PTGS1 PTGS2 REG1B RFT1 SDC1 SELE SELL SFTPD SGPP2 SLC35A1 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK1 ST6GALNAC1 SUCLA2 SULT1E1 TBXAS1 TIGAR TKT 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 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 2194 2215 2220 2271 229 22914 23205 23274 23545 23583 23600 23659 240 248 250 2524 2525 2526 253430 2590 2597 27087 27163 2720 27306 275 276 277 278 28 2813 2876 2877 2990 30835 31 3161 3291 3383 3384 3417 3425 3554 3635 38 39 3938 3956 3958 3960 3965 3992 4023 4048 4051 4069 410 4153 4199 4249 43 4350 4595 4680 4758 4907 4968 50 5048 51363 51477 5226 5290 5291 5293 5294 5315 5319 5320 5321 5336 54577 54658 55600 55808 55902 56994 57016 57103 5728 5730 5742 5743 593 5968 6382 6401 6402 64090 64116 6441 64581 6609 6646 6783 6916 7086 7412 7915 7941 7991 79947 80329 80896 8398 8399 847 8529 8547 873 8794 8803 8807 8808 8809 8876 8877 8897 9173 91869 92579 929 93210 9415 9420 9435 945 9468 9514 952 960 9663 972	Homo sapiens (human)
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	CNTN1	1272	Homo sapiens (human)
DOID:5419	schizophrenia Aliases: schizophrenia-1	ABO ACACA ACADS ACAN ACE ACHE ACO2 ACOT7 ACSL4 ACSL6 ACSM1 ADH5 AGA AKR1A1 AKT1 ALDH2 ALDH3A1 ALDH3B1 ALDH7A1 ALDOC ALG1 ALG9 ALOX12 ALPL AMACR AMY1A APRT ARSA ARSD ARSG ASAH1 ATP6V1A B3GAT1 B3GAT2 B3GNT2 CACNA2D3 CALR CAT CD14 CD38 CD48 CDH13 CERK CFC1 CHAT CHGA CHI3L1 CHPT1 CHST10 CHST11 CHST3 CHST9 CLEC10A CNTN2 CNTN4 CNTN5 CNTN6 COMT CRLS1 CSPG4 CSPG5 CYP19A1 CYP1A2 CYP21A2 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP4F3 DEGS2 DGCR2 DGKH DGKI DGKZ DHDDS DLD EBP EDEM2 EFNA5 ELOVL5 ENO2 EPHX2 EPM2A ETNPPL EXT1 FADS1 FADS2 FBP1 FCN2 FH FUCA2 FUT11 FUT8 G6PD GAD1 GAD2 GALC GALNT10 GALNT2 GAPDH GBA1 GCSH GFRA1 GFRA2 GLDC GLO1 GLT8D1 GLUL GLYCTK GNPAT GPC1 GPC6 GPX1 GSK3B GTDC1 GUSB HAGH HK1 HK2 HPGDS HS3ST5 HS6ST1 HSD11B2 HSD17B12 HSPG2 HTR2A ICAM1 IL18R1 IL1R1 IMPA2 INPP5A KL L1CAM LCT LGALS1 LGALS3 LIPC LMAN2L LPL MAG MAN1C1 MAN2A1 MAN2A2 MCAT MDGA1 MDH1 ME2 MECR MGAT1 MPI NCAM1 NCAN NDST3 NEU1 NPL NTM NTNG1 OGG1 OPCML PAFAH1B1 PARP1 PARP9 PCCB PCK1 PCYT1A PEMT PFKM PGK1 PGP PI4K2B PI4KA PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PIP4K2C PLA2G10 PLA2G12A PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G4B PLA2G4C PLA2G4D PLA2G5 PLA2G6 PLA2G7 PLB1 PLCB1 PLCB4 PLCG1 PLCH2 PLPP1 PMM2 PNPLA2 POFUT1 POFUT2 PPARA PPT1 PRNP PSAP PSMD10 PTEN PTGDS PTGES3 PTGIS PTGS1 PTGS2 RBKS RENBP RFT1 RPN2 RTN4R SCD SDHA SELL SHMT1 SHMT2 SLC27A5 SLC2A3 SLC35G1 SLC39A8 SMPD3 SMUG1 SPTLC1 SRD5A2 ST3GAL1 ST3GAL3 ST6GALNAC1 ST8SIA2 ST8SIA3 ST8SIA4 STS STT3A SULT1E1 SUMF1 TBXAS1 TIGAR TKT TMED5 TMTC1 TNF TPI1 TUSC3 UGT1A3 UGT1A8 UXS1 VCAM1	100137049 10082 1012 10327 10400 10462 10558 10675 10678 10682 10728 10998 1103 1113 1116 11332 116285 123099 128 1312 132158 135152 142 1463 1464 151056 152330 1544 1555 1557 1559 1571 1576 1577 1588 1589 159371 160851 1636 170384 1738 175 176 1946 2026 2053 207 2131 217 218 2182 2203 221 2220 222537 2271 22854 22901 230 23236 23275 23305 23509 23583 23600 23659 239 249 2519 2530 2539 2571 2572 2581 2590 2597 2629 2653 266727 2674 2675 27087 27255 27306 2731 27349 2739 2752 276 28 2817 283748 283871 285362 2876 2932 2990 3029 3098 3099 31 3291 3339 3356 3383 35 353 3554 3613 3632 3703 3897 3938 3956 3958 3990 3992 4023 4051 4099 410 412 4122 4124 414 4190 4200 4245 427 43 4351 4684 4758 4968 4978 50 501 5048 50515 50863 5096 50999 51046 5105 51102 51144 5130 5213 523 5230 5286 5289 5290 5291 5293 5294 5297 5305 5319 5320 5321 5322 5332 5335 5373 53942 54576 5465 54659 54675 55300 5538 55512 55568 55741 55799 55808 55830 55997 56052 5621 5660 56994 57103 57104 57134 5716 5728 5730 5740 5742 5743 5973 60481 6185 6319 6389 6402 64080 64116 6470 6472 64781 6482 64850 6487 65078 6515 6716 6783 6900 6916 7086 7124 7167 7412 7903 7941 7957 79712 79796 79837 7991 79947 80146 80896 811 8128 81562 81579 83539 83666 83857 8398 8399 8443 847 8525 8605 8611 8809 9162 91869 929 9348 9365 9394 9415 9469 9486 952 962 9651 9993	Homo sapiens (human)
DOID:3602	toxic encephalopathy Aliases: neurotoxicity neurotoxicity syndrome	CAT CYP3A5 PTGES3 ST8SIA1	10728 1577 6489 847	Homo sapiens (human)
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	ACE	1636	Homo sapiens (human)
DOID:7998	hyperthyroidism Aliases: overactive thyroid	ABO ACACA ACE ADIPOQ ALG1 ANXA5 APRT ATP6AP2 B3GNT2 BAAT BDH1 CALR CAT CD14 CMAS COMT CS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2C9 CYP2R1 CYP7A1 DEGS1 ENPP2 FCER2 FCGR3B FUT2 GAD1 GAD2 GLO1 GLUL GPX1 ICAM1 IL18R1 IL18RAP IL1RL1 KLRC1 LGALS9 LYZ MBL2 NAMPT NCAM1 NR1D1 NT5E OGG1 PARP1 PC PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PPARGC1A PPT1 PRKAA2 PTEN PTGDS SCD SELE SELL SIGLEC1 SLC2A3 SLC2A4 SMUG1 ST3GAL1 ST6GAL1 TM7SF2 UGDH UGT1A1 UGT2B17 VCAM1	10135 10159 10678 10891 120227 1312 142 1431 1543 1559 1581 1588 1589 1594 1636 2208 2215 23583 2524 2571 2572 2739 2752 28 2876 308 31 3383 353 3821 3965 4069 4153 4684 4907 4968 5091 5130 5168 5290 5291 5293 5294 5319 5320 54658 5538 5563 55907 56052 570 5728 5730 622 6319 6401 6402 6480 6482 6515 6517 6614 7108 7358 7367 7412 811 8398 847 8560 8807 8809 9173 929 9370 9572	Homo sapiens (human)
DOID:10609	rickets Aliases: active rickets	ACE ALPL APRT BAAT CEACAM5 CEACAM7 CTNS CYP24A1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 CYP7A1 DHCR7 EHHADH ENPP1 GALC GGT1 HSD11B2 HSD3B7 KL L1CAM MCAT OCRL PHOSPHO1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 RGN SCD SFTPA1 SLC17A5 SLC2A2 TALDO1	1048 1087 120227 1497 1576 1581 1591 1593 1594 162466 1636 1717 1962 249 2581 26503 2678 27349 3291 353 3897 4952 5167 5290 5291 5293 5294 570 5743 6319 6514 653509 6888 80270 9104 9365	Homo sapiens (human)

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