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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 **3001 - 3025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:12297	Vogt-Koyanagi-Harada disease Aliases: Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome	CLEC16A CYP24A1 CYP2R1 RPE TNF	120227 1591 23274 6120 7124	Homo sapiens (human)
DOID:13003	vertebrobasilar insufficiency Aliases: Vertebro-basilar insufficiency Vertebrobasilar arterial insufficiency Vertebrobasilar artery syndrome	ACE CALR CAT CD74 CHKA CYP2C19 DHCR24 FCN1 G6PD GLA GPX3 ICAM1 LTC4S MCFD2 NAMPT OGG1 OLR1 PARP1 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PTEN PTGS2 SELL SELP SIRT6 SMPD3 SULT1E1	10135 1119 142 1557 1636 1718 2219 2539 2717 2878 3383 4056 4968 4973 51548 5277 5290 5291 5293 5294 55512 5728 5743 6402 6403 6783 7941 811 847 90411 972	Homo sapiens (human)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	ABO ACE HS3ST6 MASP2 MBL2 SMUG1 VCAM1 XPNPEP2	10747 1636 23583 28 4153 64711 7412 7512	Homo sapiens (human)
DOID:0060486	Perry syndrome Aliases: parkinsonism with alveolar hypoventilation and mental depression	HACD1	9200	Homo sapiens (human)
DOID:0110756	type 1 diabetes mellitus 19 Aliases: IDDM19 Insulin-Dependent Diabetes Mellitus 19	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	ABAT ABO ACACA ACADSB ACAT1 ACE ACO1 ACSM1 ACSM3 ACSS2 ADH1B ADRB3 AGPS AGXT AKR1A1 AKR1B1 AKR1C3 AKR1C4 AKT1 AKT2 ALDH2 ALDH7A1 ALOX12 ALOX15B ALOX5 AMACR AMY1A AMY1B AMY1C ANXA5 APRT ARSA ARSB ARSD ATP1A2 ATP6AP2 ATP6V0A2 B3GAT1 BAAT BAD BST1 CACNA2D1 CALR CAT CD14 CD38 CD44 CDH13 CERS5 CHGA CHI3L1 CHPT1 CHST12 CHST3 CLC CLEC16A CNTN3 CNTN4 CNTN5 COL9A2 COMT CTSA CYB5R3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP4A22 CYP4F2 CYP4F3 CYP4F8 CYP7A1 DAG1 DCN DEGS1 DLD DPAGT1 DPEP1 EBP ENO1 ENO2 ENO3 ENPP1 EPHX2 EXT2 FADS1 FASN FCN3 FIG4 G6PC1 G6PD GAD2 GAL3ST1 GALNT2 GBA1 GCK GGT1 GLA GLCE GLO1 GML GNPDA2 GOLPH3 GPC3 GPI GPX1 GPX3 GSK3B HJV HK2 HMGCS2 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSD3B1 HSD3B2 HSPG2 HTR2A ICAM1 IDH2 IDUA IL18RAP IL1R1 IL1RL1 IL6ST IMPA1 INPPL1 INS ISYNA1 KCNJ11 KCNQ1 KL LCT LDHA LEP LEPR LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPCAT3 LPIN1 LPL LSS LYZ MACROD2 MBL2 MCAT MLYCD MPI MSLN NAMPT NPL NPY1R OGA OGG1 OLR1 PARP1 PC PCYT1A PFKFB3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G15 PLA2G4A PLA2G5 PLA2G7 PLCB3 PLCD1 PLCE1 PLCG1 PLD2 PMM2 PPARA PRKAA2 PRNP PRSS8 PTEN PTGDS PTGES2 PTGES PTGIS PTGS1 PTGS2 RBP4 REG3G RENBP RGN SACM1L SCD SDC1 SDHB SDHC SELE SELL SELP SEMA7A SFTPC SHMT1 SIRT2 SIRT6 SLC17A5 SLC2A10 SLC2A1 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35F3 SLC37A4 SLC39A8 SLC3A1 SLC5A1 SLC5A2 SMUG1 SORD SPHK1 SPHK2 SRGN ST3GAL4 ST8SIA4 STS SULF2 SULT1E1 TBXAS1 TM7SF2 TNF UCP2 UGCG UGT1A1 UMOD VCAM1 VNN1 XYLT1 XYLT2	1012 10135 10159 10162 10232 10327 10559 10682 10724 10855 1109 1113 1116 11283 116285 1178 120227 125 1298 130120 1312 132789 140733 142 148641 148738 152330 1543 1544 1545 155 1555 1557 1558 1559 1573 1576 1577 1579 1581 1583 1584 1585 1586 1588 1589 1591 1594 1605 1634 1636 1727 1738 1798 18 1800 189 2023 2026 2027 2053 207 208 2132 217 2194 22908 22933 231 23175 23274 23417 23545 23583 23600 23659 239 240 247 2538 2539 2542 2572 2590 26035 2629 2645 26503 2678 27087 2717 2719 27306 27349 2739 276 2765 277 278 28 2821 283871 284541 2876 2878 2932 308 3099 31 3158 3283 3284 3290 3291 3295 3339 3356 3383 3418 3425 353 3554 3572 36 3612 3630 3636 3767 3784 38 3938 3939 3952 3953 3956 3957 3958 3988 3990 3992 4023 4047 4051 4069 410 411 412 414 4153 4351 477 48 4886 4968 4973 501 5067 5091 51196 5130 51477 51548 5167 5209 5290 5291 5293 5294 5310 5311 5315 5321 5322 5331 5333 5335 5338 5373 53942 5465 54658 5476 55501 5552 5563 55902 55959 5621 5652 56848 56994 570 572 5728 5730 5740 5742 5743 5950 5973 60495 6296 6319 6382 6390 6391 6401 6402 6403 64083 64116 64131 64132 6440 6470 6484 6513 6514 6515 6517 6518 6519 6523 6524 6652 6783 683 6916 7108 7124 7351 7357 7369 7412 781 7903 7941 80142 80896 81031 811 847 8482 8529 8540 8547 8560 8644 8807 8876 8877 91012 9104 9173 9197 929 9365 9388 9469 9514 952 9536 960 9896	Homo sapiens (human)
DOID:10965	spastic diplegia Aliases: Diplegic infantile cerebral palsy Infantile spastic cerebral palsy Little's disease Littles disease cerebral spastic infantile paralysis infantile diplegic cerebral palsy	ACHE ACSM1 ACSM2A ALDH3A2 ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GLUL GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 224 250 2571 26033 2639 2752 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 4860 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)
DOID:0080108	myoglobinuria	CPT2 HADH HADHA HADHB LDHA LPIN1 LPIN2 LPIN3 PGAM2 PGK1 PYGM	1376 23175 3030 3032 3033 3939 5224 5230 5837 64900 9663	Homo sapiens (human)
DOID:0060538	purpura fulminans Aliases: purpura gangrenosa	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5	26503 308 4153 4684 5091 5337 5648 6382 6402 78989 929	Homo sapiens (human)
DOID:5732	pyosalpinx Aliases: Pyosalpingitis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)
DOID:1508	candidiasis Aliases: Disseminated candidiasis systemic candidiasis	ADH1A AKR1A1 CLEC6A CLEC7A CYP51A1 ENO1 FUT2 FUT3 FUT4 FUT5 FUT6 FUT7 FUT9 INPP5D LGALS3 LYZ MBL2 PLB1 PLCG1 PLCG2 PLD1 PSAP SRGN TMEM199	10327 10690 124 147007 151056 1595 2023 2524 2525 2526 2527 2528 2529 3635 3958 4069 4153 5335 5336 5337 5552 5660 64581 93978	Homo sapiens (human)
DOID:0110938	autosomal dominant osteopetrosis 2 Aliases: Albers-Schonberg osteopetrosis OPTA2 autosomal dominant Albers-Schonberg disease autosomal dominant osteopetrosis type II osteopetrosis autosomal dominant type 2	ARSA CLC DEGS1 DHCR24 EXTL2 EXTL3 PTDSS1	1178 1718 2135 2137 410 8560 9791	Homo sapiens (human)
DOID:3137	obsolete multiple symmetrical lipomatosis	CEL PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PTEN	1056 10908 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0110572	autosomal dominant nonsyndromic deafness 49 Aliases: DFNA49 autosomal dominant deafness 49	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0050256	angiostrongyliasis	LGALS2	3957	Homo sapiens (human)
DOID:1394	urinary schistosomiasis Aliases: Schistosoma Hematobium Infection Schistosoma haematobium Schistosoma hematobium infectious disease Schistosomiasis due to schistosoma haematobium Schistosomiasis of bladder Vesical schistosomiasis bladder Schistosomiasis cystitis with bilharziasis	CD1D COLEC11 FCN2 MASP2 MBL2	10747 2220 4153 78989 912	Homo sapiens (human)
DOID:3449	penis carcinoma Aliases: Penile carcinoma carcinoma of penis	MRC1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	23583 4360 5290 5291 5293 5294	Homo sapiens (human)
DOID:0080212	polycystic kidney disease 4	ACE CD44 CYP4A22 CYP7B1 DOLK EOGT HJV INPP5E MPI PIK3CA PKD1 PKD2 PNPLA6 UMOD	10908 148738 1636 22845 284541 285203 4351 5290 5310 5311 56623 7369 9420 960	Homo sapiens (human)
DOID:0080205	CAKUT Aliases: Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation	ACE ATP6AP2 FREM1 PIK3CA PIK3CB PIK3CD PIK3CG	10159 158326 1636 5290 5291 5293 5294	Homo sapiens (human)
DOID:0060587	Noonan syndrome 9 Aliases: NS9	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)
DOID:3783	Coffin-Lowry syndrome	CRLS1 HSD17B6 IL1RAPL1 PDHA1	11141 5160 54675 8630	Homo sapiens (human)
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	COG6	57511	Homo sapiens (human)
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)
DOID:10461	dentin caries Aliases: Compound dental caries Dental caries extending into dentine	ACE AGA ALOX15 ALPL ATP6V0A2 ATP6V1A CALR CD14 COG6 COMT DAG1 FCN2 GALK2 GALNS GLB1 GLUL IDUA ITPKB LYZL2 MBL2 MTM1 MTMR3 OCRL PIGA PLA2G6 PSAP PTEN SGMS2 SLC2A2 SLC2A4 SRGN TMTC3	119180 1312 160418 1605 1636 166929 175 2220 23545 246 249 2585 2588 2720 2752 3425 3707 4153 4534 4952 523 5277 5552 5660 5728 57511 6514 6517 811 8398 8897 929	Homo sapiens (human)
DOID:11702	dysgammaglobulinemia	UNG	7374	Homo sapiens (human)

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