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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 **4476 - 4500** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:7079	adult cystic teratoma	ALPP DHCR24 FMOD GFRA1 PSMD10 PTEN	1718 2331 250 2674 5716 5728	Homo sapiens (human)
DOID:820	myocarditis Aliases: Myocardial inflammation	ACE ARSB CA4 CYP11B1 CYP11B2 DCN FCN2 FKTN FUT4 GPX1 ICAM1 IDS ISYNA1 KLRB1 KLRK1 LGALS3 LGALS9 NCAM1 PTGS2 SLC17A5 SLC2A10 SMUG1	1584 1585 1634 1636 2218 2220 22914 23583 2526 26503 2876 3383 3423 3820 3958 3965 411 4684 51477 5743 762 81031	Homo sapiens (human)
DOID:0070136	autosomal dominant cutis laxa 2 Aliases: ADCL2	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:2860	hemoglobinopathy Aliases: hemoglobinopathies	ABO ALDOA CD55 FUT1 G6PD GPI HK1 NT5E PKLR SCD TPI1 UGT1A1	1604 226 2523 2539 28 2821 3098 4907 5313 54658 6319 7167	Homo sapiens (human)
DOID:1639	skeletal tuberculosis Aliases: osteoarticular tuberculosis	AGA	175	Homo sapiens (human)
DOID:0060108	brain glioma Aliases: lower grade glioma	GAPDH	2597	Homo sapiens (human)
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	B4GALT1 B4GALT7	11285 2683	Homo sapiens (human)
DOID:3073	brain glioblastoma multiforme Aliases: Glioblastoma multiforme of brain brain Glioblastoma	CLEC5A NCAM1	23601 4684	Homo sapiens (human)
DOID:0050777	Joubert syndrome Aliases: JBTS	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN GYS2 HSPG2 INPP5B INPP5E LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS SYNJ1 SYNJ2 TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 2998 3339 3633 412 5048 50814 51227 523 55624 56623 6383 729920 79147 84197 84892 8867 8871 9091 9215 9896	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:14515	WAGR syndrome Aliases: 11p partial monosomy syndrome Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome chromosome 11p13 deletion syndrome	CAT	847	Homo sapiens (human)
DOID:0110430	dilated cardiomyopathy 1G Aliases: CMD1G	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:3946	pituitary-dependent Cushing's disease Aliases: Overproduction of ACTH pituitary-dependent Cushing disease	CD14 CNTN3 CYP11B1 HSD11B1 HSD11B2 SMUG1	1584 23583 3290 3291 5067 929	Homo sapiens (human)
DOID:12697	locked-in syndrome Aliases: Locked in syndrome Locked-in state	ALDH3A2 ARSA COG2 COLGALT1 CYB5R3 DEGS1 ELOVL4 FUCA1 GAD1 GBE1 GLB1 GLYCTK PDHX PLA2G6 PNP POMT1 PRPS1 RPE ST3GAL5 SYNJ1	10585 132158 1727 224 22796 2517 2571 2632 2720 410 4860 5631 6120 6785 79709 8050 8398 8560 8867 8869	Homo sapiens (human)
DOID:8534	gastroesophageal reflux disease Aliases: Acid reflux GERD GERD - Gastro-esophageal reflux disease Gastresophageal reflux Gastro-esophageal reflux Gastroesophageal reflux	ABAT ACE AGRN ALPP ARSA ATP6V1A ATRNL1 CALR CHAT COG7 COMT CYP2C19 DDOST DEGS1 ECI1 EXT2 FCSK FUT3 GNE HPGDS IL18R1 IL1R1 MCEE NT5E NTM NTNG1 OCRL PGM3 PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLB1 PLCE1 PRKCSH PTGES PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPC SLC2A10 SLC35A2 SMC3 SYNJ1 TLR2	10020 1103 1312 151056 1557 1632 1636 1650 18 197258 2132 22854 23556 250 2525 26033 27306 3554 375790 410 4907 4952 50863 51196 523 5238 5277 5290 5291 5293 5294 5320 5589 5742 5743 6440 653509 7097 729238 7355 81031 811 84693 8560 8809 8867 9126 91949 9536	Homo sapiens (human)
DOID:0080488	mucolipidosis	GNPTAB NEU1	4758 79158	Homo sapiens (human)
DOID:5482	cystadenofibroma	PIK3CA	5290	Homo sapiens (human)
DOID:1574	alcohol use disorder Aliases: Ethanol abuse alcohol abuse	ABAT ABO ACADS ACE ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AKR1A1 AKR1C3 AKR1C4 AKT1 AKT2 ALDH1B1 ALDH2 ALDH3B2 ANGPTL3 ANXA4 APRT ARSA ATP1A2 CAT CD14 CDH13 CNTN4 CNTN6 COMT CYP19A1 CYP2B6 CYP2E1 CYP3A4 CYP3A5 CYP4F3 ECHS1 FADS1 FADS2 FOLR1 GAD1 GAD2 GAPDH GGT1 GLUL GM2A GSTO1 GSTO2 GUSB HPGDS HSD11B2 HSPG2 HTR2A IGF2 IL18R1 IL1R1 IMPA1 KL LYZ MGLL NCAM1 NCAN NPL PARP9 PC PIK3CA PIK3CB PIK3CD PIK3CG PLCD3 PNPLA3 PPAT PPP1R3B PPP1R3C PRSS21 SHMT1 SHMT2 SLC17A5 SLC39A8 SMPD1 SRD5A1 SRD5A2 ST6GAL1 ST8SIA4 TIPARP TKT TMEM260 UMOD	1012 10327 10942 1109 113026 11343 119391 124 125 126 127 128 130 131 1312 1463 152330 1555 1571 1576 1577 1588 1636 18 1892 207 208 217 219 222 2348 2571 2572 2597 25976 26503 2678 27255 27306 27329 2752 2760 28 2990 307 3291 3339 3356 3481 35 353 3554 3612 3992 4051 4069 410 4684 477 5091 5290 5291 5293 5294 5471 54916 5507 55902 64116 6470 6472 6480 6609 6715 6716 7086 7369 7903 79660 80339 80896 83666 847 8644 8809 929 9365 9415 9446	Homo sapiens (human)
DOID:10486	intestinal atresia	SLC2A2 SLC2A5 SLC5A1	6514 6518 6523	Homo sapiens (human)
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	ABO ACACA ACAT1 ACE ACO2 ACSBG1 ACSS2 ADIPOQ ALDH5A1 ALOX12 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 PLAUR PLB1 PLCG2 PTEN PTGDS PTGS2 REG1B RFT1 SDC1 SELL SFTPD SLC39A8 SMUG1 SOAT1 SUCLA2 TKT TNF 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 239 240 248 250 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 5329 5336 54577 54658 55600 55902 56994 5728 5730 5743 593 5968 6382 6402 64090 64116 6441 6646 7086 7124 7412 7915 79947 80329 80896 8398 8399 8529 8547 873 8794 8803 8807 8809 8897 9173 91869 92579 929 93210 9370 9415 945 952 960 9663	Homo sapiens (human)
DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0110345	osteogenesis imperfecta type 16 Aliases: OI16 chromosome 11p11.2 deletion syndrome 91.3-KB osteogenesis imperfecta type XVI	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	PDHX PDX1	3651 8050	Homo sapiens (human)
DOID:0050570	congenital disorder of glycosylation type I	ALG11 ALG12 ALG13 ALG1 ALG1L2 ALG2 ALG3 ALG5 ALG6 ALG8 ALG9 ATP6V0A2 COG1 COG4 COG8 DDOST DOLK DPAGT1 DPM1 DPM2 DPM3 MAN1A1 MAN1B1 MOGS MPDU1 MPI OGA PGM1 PMM1 PMM2 RFT1 SLC35A2 SLC39A8 SRD5A3 STT3A	10195 10724 11253 1650 1798 22845 23545 25839 29880 29929 3703 4121 4351 440138 5236 5372 5373 54344 56052 64116 644974 7355 7841 79053 79087 79644 79796 79868 84342 85365 8813 8818 91869 9382 9526	Homo sapiens (human)
DOID:0111936	immunodeficiency 14 Aliases: APDS IMD14 PASLI disease activated PI3K-delta syndrome senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation	PIK3CD	5293	Homo sapiens (human)

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