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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 **4551 - 4575** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:3393	coronary artery disease Aliases: CHD Coronary disease coronary arteriosclerosis coronary heart disease	ABO ACACA ACACB ACADS ACAN ACAT1 ACAT2 ACE ACHE ACLY ACOT2 ACOT7 ACSL1 ACSS2 ADH1A ADH1B ADH1C ADH5 ADIPOQ ADRB3 AGPAT2 AGXT AKR1A1 AKR1B10 AKR1B1 ALDH1B1 ALDH2 ALDH6A1 ALDOA ALOX12 ALOX15 ALOX15B ALOX5 ALPL ANXA5 APRT ARSA ARSB ARSD ARSI ASGR1 ATP6AP2 ATP6V0A2 B3GAT1 B4GALNT1 B4GALNT2 B4GALT1 CACNA2D2 CALR CANX CAT CD14 CD1D CD248 CD44 CD74 CD93 CDH13 CEL CERS1 CFC1 CH25H CHGA CHI3L1 CHIT1 CHST3 CHST9 CLEC10A CLEC1B CLEC6A CLEC7A CLEC9A CNTN3 COG2 COG5 COG6 COMT CPT1A CPT2 CS CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP4F2 CYP7A1 DAG1 DCN DGAT1 DGKK DHCR24 DHCR7 DLAT DLD DPEP2 DPEP3 EBP EFNA5 ELOVL2 ELOVL6 ENPP1 ENPP7 EPHX2 EXTL3 FADS1 FADS2 FCGR3B FCN1 FCN2 FCN3 FDPS FMOD FOLR2 FUT3 FUT8 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GALNT4 GALNT7 GAPDH GCK GGT1 GK GLO1 GLT1D1 GLUL GPD1L GPI GPIHBP1 GPLD1 GPX1 GPX3 GUSB GYG1 H6PD HADHA HAS2 HAS3 HJV HK1 HK2 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSPG2 ICAM1 IDH2 IGF2R IL18R1 IL1R1 IL1RAP IL1RL1 INPP5D INPP5K ISYNA1 ITLN1 ITPK1 KL KLRK1 LCAT LCT LDHA LEPR LGALS2 LGALS3 LIPA LIPC LIPG LMAN1 LPCAT3 LPL LSS LTA4H LTC4S LYZ MAG MBL2 MCFD2 MGAM MGLL MICA MMP17 MPI MRC1 MTAP NAAA NAGLU NAMPT NANS NCAM1 NDST4 NDUFAB1 NEU1 NT5E OGA OGDH OGG1 OLR1 OXCT1 PAFAH2 PARP12 PARP1 PARP2 PARP3 PC PCYT1A PCYT1B PDHA1 PEMT PFKFB3 PFKL PFKM PGM1 PIGF PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4A PLA2G5 PLA2G6 PLA2G7 PLAUR PLB1 PLCD1 PLCD3 PLCG1 PLCG2 PLPP3 PNP PNPLA2 PNPLA3 PPARA PPP1R3B PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 PYGB PYGM RBP4 RENBP RGN RPN1 SACM1L SCD SDC1 SDC4 SELE SELENOI SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPD SGMS2 SGPL1 SI SIGLEC1 SIRT2 SIRT4 SIRT6 SLC17A5 SLC2A12 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35G1 SLC39A8 SLC5A1 SMC3 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SOAT2 SPHK1 SPHK2 SRGN ST3GAL4 ST6GAL1 ST6GALNAC5 ST8SIA1 ST8SIA4 STS SUCLA2 SULT1E1 TBXAS1 TLR4 TM7SF2 TNF TP53 TPI1 TYMP UGCG UGT1A1 UGT1A6 UMOD UMPS VCAM1 VCAN VNN1	10038 10039 100507436 1012 10135 10159 10162 10327 10400 10462 10466 10555 10559 1056 10682 10715 10724 10855 10965 1113 1116 1118 113026 11332 11343 120227 124 124872 125 126 128 1312 1374 1376 139189 142 1431 144423 1462 148738 151056 154091 1543 1544 1545 155 1555 1557 1558 1559 1571 1573 1576 1577 1579 1581 1585 1586 1588 1589 1593 159371 1594 1605 1634 1636 166929 1717 1718 1737 1738 176 189 1890 1946 2053 2137 217 2180 219 2215 2219 2220 2224 226 22796 22908 22914 22918 22933 231 23171 2331 23409 2350 23545 23583 23659 239 240 246 247 249 2525 2530 2539 2571 2583 2590 2591 2597 26279 2645 26503 2678 2683 27087 2710 27163 27306 2739 2752 28 2821 2822 283420 2876 2878 2990 2992 3030 3037 3038 308 3098 3099 31 3158 32 3290 3339 3383 338328 339221 340075 3418 3482 35 353 3554 3556 3635 3705 38 39 3931 3938 3939 3953 3957 3958 3988 3990 3992 3998 4023 4047 4048 4056 4069 4099 410 411 412 414 4153 43 432 4326 4329 4351 4360 4507 4669 4684 47 4706 4758 4860 4907 4967 4968 4973 5019 5051 5067 5091 51266 5130 51477 51548 5160 5167 51763 51809 5209 5211 5213 5236 5281 5286 5290 5291 5293 5294 5310 5315 5319 5320 5321 5322 5329 5333 5335 5336 54187 54578 5465 54658 54898 55512 5552 55600 5563 55902 55997 5621 56848 57016 57104 57124 5728 5730 5740 5742 5743 57511 5834 5837 5950 5973 60495 6184 6319 6382 6385 6401 6402 6403 64116 64174 64180 6441 64579 64581 6476 64761 6480 6484 6489 6515 6517 6523 653509 6609 6610 6614 6646 6783 6916 7099 7108 7124 7157 7167 729238 7357 7369 7372 7412 7903 79071 7941 79660 80339 811 81849 821 83539 8398 8399 8435 847 8482 8529 85465 8547 8613 8693 8694 8803 8809 8876 8877 8879 8972 9023 90411 9104 912 9126 9173 9197 9254 929 9365 9370 9388 93978 9415 9468 9469 9514 9536 9563 960 972 9957	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:6581	breast apocrine carcinoma	GGT1	2678	Homo sapiens (human)	DisGeNET
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	ARSA ARSH CAT SGSH STS SUMF1	285362 347527 410 412 6448 847	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050841	focal hand dystonia Aliases: organic writer's cramp	ALDH5A1 AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 CYP2U1 DBT DHDDS DLAT DPEP1 ECHS1 EPM2A GAD1 GBA1 GCDH GCSH GLB1 GLDC GLYCTK GPI HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SCP2 SDHA SDHD SLC39A8 SMUG1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1	10715 113612 1203 132158 151056 1557 1593 1629 1737 1800 1892 22901 23236 23556 23583 2571 26275 2629 2639 2653 2720 2731 27315 275 2821 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6342 6389 6392 64116 6487 6900 7915 7957 79947 8398 84342 84720 84992 8803 8867 8869 9091 91869 93210 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0080220	obsolete major affective disorder 1	ACE COMT DGKH GAD1 IMPA2 NCAM1 NPL PFKL PIP4K2A PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 SMPD1	1312 151056 160851 1636 2571 3613 4684 5211 5305 5320 5321 6609 80896 8398 8399	Homo sapiens (human)	DisGeNET
DOID:318	progressive muscular atrophy Aliases: Pure progressive muscular atrophy progressive spinal muscular atrophy	ACAT2 ACE ACHE ADH5 ALOX15 ALOX5 ALPI ALPP APRT ARSF ASAH1 ATRNL1 CALR CANX CAT CBR1 CD14 CEACAM6 CHGA CHI3L1 CHI3L2 CHIT1 CHODL CHST2 CLEC10A CNTFR CNTN1 CS CTBS CYP19A1 CYP1A1 CYP1A2 CYP27A1 DGAT1 DHDDS DLD EFNA5 FCGR3B FCN2 FCN3 FIG4 FUT1 GAL3ST1 GAPDH GBA1 GFRA1 GLCE GLT8D1 GLUL GM2A GPNMB GPX3 GPX7 HADHA HEXA HK1 HPGDS HSPG2 IGF2R IL18R1 INPP5B KDSR KL LGALS1 LGALS2 LGALS3 LGALS4 MDH1 MGAM MGLL MRC1 NAMPT NCAM1 NGLY1 OGA PARP1 PCYT1B PDIA3 PGK1 PIGL PLA2G4A PLCB1 PLCD1 PNPLA6 PRNP PSAP PTEN PTGES PTGS2 SARM1 SCD SI SIGLEC7 SIRT2 SIRT6 SLC33A1 SLC35A1 SMUG1 SOAT1 ST3GAL3 SULT1E1 SYNJ1 SYNJ2 THEM4 TMED9 TNKS UGCG	10135 10457 10462 10559 10724 10908 1113 1116 1117 1118 11343 117145 1271 1272 128 140578 142 1431 1486 1543 1544 1588 1593 1636 1738 1946 2215 2220 22933 23098 23236 23583 240 246 248 250 2523 2531 2597 26033 26035 2629 2674 27036 27306 2752 2760 2878 2882 2923 3030 3073 3098 3339 3482 353 3633 39 3956 3957 3958 3960 416 4190 427 43 4360 4680 4684 51548 5230 5321 5333 54732 55768 55830 5621 5660 5728 5743 6319 6476 6487 6646 6783 7357 79947 811 821 847 8547 8658 8694 873 8809 8867 8871 8972 9197 929 9365 9435 9468 9487 9514 9536 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	GCLC	2729	Homo sapiens (human)	Alliance of Genome Resources
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	ALDOC ATF4 CD44 PARG PARP1	142 230 468 8505 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110865	congenital stationary night blindness 1B Aliases: CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:3389	Papillon-Lefevre disease Aliases: Papillon Lefevre syndrome Papillon-Lefvre syndrome	ABO FIG4 GAL3ST1 SLC35A1	10559 28 9514 9896	Homo sapiens (human)	DisGeNET
DOID:12583	velocardiofacial syndrome Aliases: Shprintzen syndrome VCF-Velocardiofacial syndrome	ARSA COMT CPO DGCR2 GBA1 NAAA NDST1 PLA2G6 SULT1E1	130749 1312 2629 27163 3340 410 6783 8398 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060602	alpha-methylacyl-CoA racemase deficiency Aliases: AMACR deficiency	AMACR HSD17B4	23600 3295	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060022	CD40 ligand deficiency Aliases: HIGMX-1 X-linked hyper-IgM syndrome	CHI3L1 FCER2 HPRT1 IL18R1 MRC1 PIK3CA PIK3CB PIK3CD PIK3CG UNG	1116 2208 3251 4360 5290 5291 5293 5294 7374 8809	Homo sapiens (human)	DisGeNET
DOID:14040	autoimmune polyendocrine syndrome Aliases: Autoimmune polyglandular failure Lloyd's syndrome autoimmune polyendocrinopathy	ADH1A AKR1A1 ANXA5 APRT CD1D CLEC7A CYP1A2 CYP2B6 DLAT FCGR3B GPI LCT LYZ MBL2 NT5E PC PIK3CA PLA2G2A PLA2G6 PTGS1 SELE SLC17A5 VCAM1	10327 124 1544 1555 1737 2215 26503 2821 308 353 3938 4069 4153 4907 5091 5290 5320 5742 6401 64581 7412 8398 912	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0112002	immunodeficiency 47 Aliases: CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features	ATP6AP1	537	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050597	intestinal schistosomiasis Aliases: Katayama fever Schistosoma japonicum infection Schistosoma mansoni infectious disease schistosomiasis japonica	ABO CD38 CD44 COLEC11 FCER2 FCN2 GAPDH HPGDS ICAM1 IL1RL1 LGALS3 LYPD5 MBL2 MICA PC	100507436 2208 2220 2597 27306 28 284348 3383 3958 4153 5091 78989 9173 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3284	thymic carcinoma Aliases: Thymoma, malignant malignant Thymoma	CAT CD44 CD74 CLEC14A G6PD GAPDH GPX1 HACD1 HSD17B7 ICAM1 LY75 MICA MSLN PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN PTGES2 PTGES PTGS2 SMUG1 SULT1E1	100507436 10232 142 161198 23583 2539 2597 2876 3383 4065 51478 5290 5291 5293 5294 5716 5728 5743 6783 80142 847 9200 9536 960 972	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12382	complex partial epilepsy Aliases: Complex partial epileptic seizure epilepsy, psychomotor psychomotor epilepsy	ACE ACOT7 ENO2 EPHX2 GAD1 GAD2 GLUL ICAM1 MGAT1 MICA PLD1 PLD2 PRNP PTGS2 RGMA SC5D SEMA7A SMUG1	100507436 11332 1636 2026 2053 23583 2571 2572 2752 3383 4245 5337 5338 5621 56963 5743 6309 8482	Homo sapiens (human)	DisGeNET
DOID:0060583	Noonan syndrome 5 Aliases: NS5	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2044	drug-induced hepatitis Aliases: Drug-induced chronic hepatitis	CYP2E1	1571	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:12859	choreatic disease Aliases: chorea hereditary chorea	ACAT2 ALG13 ARSA B3GALNT2 CACNA2D2 GM2A LMAN2L MAN1B1 MBOAT7 MECR MYORG NDST1 NGLY1 PGAP1 PIGC PLA2G6 PRNP PSAP SMUG1 ST3GAL3 TECR TUSC3	11253 148789 23583 2760 3340 39 410 51102 5279 55768 5621 5660 57462 6487 79143 79868 7991 80055 81562 8398 9254 9524	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11180	non-suppurative otitis media Aliases: Nonsuppurative otitis media	MBL2 NT5E STS	412 4153 4907	Homo sapiens (human)	DisGeNET
DOID:4931	nasal cavity carcinoma Aliases: cancer of nasal cavity	SMUG1	23583	Homo sapiens (human)	DisGeNET

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