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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 **476 - 500** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0070399	hypomyelinating leukodystrophy 18 Aliases: HLD18	DEGS1	8560	Homo sapiens (human)
DOID:1148	polydactyly Aliases: postaxial polydactyly	ACHE DHCR7 EBP GPC3 HADHB INPP5E PIGX PIK3CA PNPLA6 PTEN SC5D UMOD	10682 10908 1717 2719 3032 43 5290 54965 56623 5728 6309 7369	Homo sapiens (human)
DOID:203	exostosis Aliases: bone spur bony outgrowth orbital exostosis osteophyte swimmer's exostosis	ACAN ACLY ADH1B APRT B3GALT6 B3GAT1 CD14 CD44 DCN EXT1 EXT2 EXTL3 FMOD HPSE HSPG2 IDH1 IDH2 KL PLCG2 PTEN PTGS2 SMUG1 TNKS	10855 125 126792 1634 176 2131 2132 2137 2331 23583 27087 3339 3417 3418 353 47 5336 5728 5743 8658 929 9365 960	Homo sapiens (human)
DOID:14445	chronic closed-angle glaucoma Aliases: Anatomical narrow angle glaucoma chronic angle-closure glaucoma chronic narrow angle glaucoma	AKR1C4 CAT CHAT CYP1B1 CYP2B6 DCN DPM2 NT5E OGG1	1103 1109 1545 1555 1634 4907 4968 847 8818	Homo sapiens (human)
DOID:0050697	chorioamnionitis	ACAN CBR1 CD14 CYP1A1 IL1RL1 LGALS3 MBL2 PGP PTGS1 PTGS2 RECK STS TNF	1543 176 283871 3958 412 4153 5742 5743 7124 8434 873 9173 929	Homo sapiens (human)
DOID:0050211	swine influenza	PIK3CG	5294	Homo sapiens (human)
DOID:14566	disease of cellular proliferation Aliases: cell process disease neoplasm	PLAUR TP53	5329 7157	Homo sapiens (human)
DOID:0110749	type 1 diabetes mellitus 10 Aliases: IDDM10 Insulin-Dependent Diabetes Mellitus 10	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:1088	meningocele	B3GALNT2 FKRP FKTN GMPPB LARGE1 LFNG POMGNT1 POMT1 POMT2 SC5D	10585 148789 2218 29925 29954 3955 55624 6309 79147 9215	Homo sapiens (human)
DOID:7319	axonal neuropathy	B3GAT1 MTMR2 PIGB	27087 8898 9488	Homo sapiens (human)
DOID:1883	hepatitis C Aliases: NANBH Viral hepatitis C chronic hepatitis C hepatitis C infection hepatitis nonA nonB	ABO ACACA ACAT1 ACAT2 ACE ACSL3 ADH1A ADH1B ADH4 AGA AGL AKR1A1 AKR1B10 AKR1B1 ALDH2 ALDH7A1 ALG10 ALPP APRT ARF4 ATRNL1 B3GAT1 BST2 CAT CD14 CD1D CD209 CD33 CD38 CD44 CD55 CEL CH25H CHI3L1 CHIT1 CHPT1 COMT CPT1A CPT2 CRLS1 CYP17A1 CYP1A1 CYP1A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP4F3 DDOST DGAT1 DGAT2 DHCR24 DHCR7 EBP EDEM1 EDEM3 ENPP1 ENPP2 EXT1 FASN FBP1 FCGR3B FCN2 FUT1 FUT8 G6PC1 GALNT8 GAPDH GFRA1 GGT1 GLT8D2 GLTP GOLPH3 GP2 GPC3 GPX1 GPX2 GUSB HACD1 HADHA HJV HK2 HMGCS1 HMGCS2 HPGDS HPSE2 HPSE HSPG2 ICAM1 IL1R1 IL1RAPL2 IL1RL2 INPPL1 ISYNA1 KLRB1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LGALS4 LGALS9 LIPA LPCAT1 LPL LY75 MASP1 MASP2 MBL2 MBOAT7 MICA MPG MRC1 NAAA NCAM1 NCAN NEIL1 NEIL2 OGG1 OGT PCK2 PCYT1A PDIA3 PI4KA PI4KB PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G4C PLB1 PNPLA3 PRNP PSMD10 PTEN PTGES3 PTGS2 QPRT RECK RENBP SCD SDC1 SDC2 SDC3 SDC4 SDHC SIGLEC1 SLC17A5 SLC2A2 SLC35A2 SOAT1 SRD5A2 STS TM7SF2 TMED5 UGGT1 UGT1A1 UGT1A7 ULBP1 VCAN	100507436 10327 1056 10682 10728 10747 10855 1116 1118 120227 124 125 127 1312 1374 1376 1462 1463 148738 151056 1543 1544 1555 1557 1559 1571 1576 1577 1586 1591 1593 1594 1604 1636 1650 1717 1718 175 178 2131 217 2181 2194 2203 2215 2220 22914 231 23475 250 2523 252969 2530 2538 2597 26033 26280 26290 26503 2674 2678 27087 27163 2719 27306 28 2813 2876 2877 2923 2990 3030 30835 3099 31 3157 3158 3339 3383 353 3554 3636 378 38 3820 3821 3824 39 3956 3958 3960 3965 3988 4023 4051 4065 412 4153 4350 4360 4684 4968 501 50999 5106 51228 5130 51477 5167 5168 5287 5289 5290 5291 5293 5294 5297 5298 5315 5319 54577 54658 54675 5621 5648 56886 56994 57016 5716 5728 5743 5973 60495 6319 6382 6383 6385 6391 64083 6514 6614 6646 6716 684 7108 7355 79143 79661 79888 80267 80329 80339 83468 8434 84649 847 8473 84920 8605 8694 8808 9023 912 9200 929 945 952 960 9672 9695	Homo sapiens (human)
DOID:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	AMACR CAT CYP4F3 FIG4 GPX2 HPSE LPIN1 MTMR2 PLCB4 PLCE1 PTGS2	10855 23175 23600 2877 4051 51196 5332 5743 847 8898 9896	Homo sapiens (human)
DOID:0110852	rhizomelic chondrodysplasia punctata type 2 Aliases: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Dhapat Deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Rcdp2	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:0080411	familial adenomatous polyposis 3	NTHL1	4913	Homo sapiens (human)
DOID:4897	bile duct carcinoma	ACE AKR1A1 AKR1B10 ALDH1A3 ALDOA ALOX15 ALOX5 ANXA4 ANXA5 APRT CAT CBR1 CD14 CD44 CEACAM5 CEACAM6 CEACAM7 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 DLAT ENO1 ENPP1 ENPP3 FBP1 FCGR3B FUT1 FUT2 FUT3 GALNS GGT1 GLUL GPC1 GPC3 HK2 HPSE IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 MGAT5 MRC1 MSLN MUTYH NCAM1 NEIL1 NEU1 NT5E OGG1 OPCML PARP1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G4A PSMD10 PTEN PTGES PTGS2 RECK SDC1 SIRT2 SMUG1 SPHK1 SPHK2 STS UGT1A10 UMPS VTCN1	10232 10327 1048 10855 1087 142 1543 1544 1588 1591 1594 1636 1737 2023 220 2203 2215 226 22914 22933 23583 240 246 2523 2524 2525 2588 2678 2719 2752 2817 307 308 3099 3417 3418 3482 353 3897 3939 3956 3958 3965 412 4249 4360 4595 4680 4684 4758 4907 4968 4978 5160 5167 5169 5290 5291 5293 5294 5311 5315 5321 54575 56848 57016 5716 5728 5743 6382 7372 79661 79679 8434 847 873 8877 929 9536 960	Homo sapiens (human)
DOID:0111112	nephronophthisis 1 Aliases: NPH1 NPHP1 juvenile nephronophthisis 1	ACE MLYCD STS UMOD	1636 23417 412 7369	Homo sapiens (human)
DOID:0080750	erythema nodosum	TNF	7124	Homo sapiens (human)
DOID:0080855	Parkinsonism	ABAT BAD COMT ENO2 GBA1 GFRA1 GFRA2 GSK3A KCNJ11 PTGS2	1312 18 2026 2629 2674 2675 2931 3767 572 5743	Homo sapiens (human)
DOID:2364	post-thrombotic syndrome Aliases: Postphlebetic syndrome with inflammation Postphlebetic syndrome with ulcer Postphlebetic syndrome with ulcer and inflammation postphlebitic syndrome venous stress disorder	ABO	28	Homo sapiens (human)
DOID:5295	intestinal disease	ACE ALG8 CAT CD44 CEACAM5 CEACAM6 CEACAM7 COG6 DGAT1 G6PC1 GP2 GUSB LCT LPIN2 LYZ MICA MUTYH NCAM1 OGA PARP1 PTGS1 PTGS2 REG1B SI STS	100507436 1048 10724 1087 142 1636 2538 2813 2990 3938 4069 412 4595 4680 4684 5742 5743 57511 5968 6476 79053 847 8694 960 9663	Homo sapiens (human)
DOID:5077	subependymal giant cell astrocytoma Aliases: SEGA	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 ALOX5 APRT ATRN B3GAT1 BDH2 BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	B3GLCT COLEC10 COLEC11 FKRP FKTN GAD1 GPC3 LARGE1 MASP1 MTMR3 NSDHL POMT1 POMT2 SDC2 TGDS TNKS2 TNKS	10584 10585 145173 2218 23483 2571 2719 29954 50814 5648 6383 78989 79147 80351 8658 8897 9215	Homo sapiens (human)
DOID:3267	mucinous ovarian cystadenoma Aliases: Ovarian mucinous Cystadenoma mucinous cystadenoma of ovary	FH	2271	Homo sapiens (human)
DOID:3559	pseudomyxoma peritonei Aliases: mucinous Ascites	CEACAM5 CEACAM7 FUT8 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1	1048 1087 23583 2530 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:4131	erythrasma Aliases: Infection due to Corynebacterium minutissimum	CAT	847	Homo sapiens (human)

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