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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 **6051 - 6075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4330	non-Langerhans-cell histiocytosis	LYZ NCAM1	4069 4684	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9408	acute myocardial infarction	ABO ACACA ACACB ACE ACHE ACOT7 ACSL1 ACSL5 ACSL6 ACSS1 ACSS2 ADH1B ADH1C ADH5 AGPAT2 AKR1A1 AKR1D1 ALDH2 ALOX12 ALOX15 ALOX5 ANXA5 ANXA7 APRT ARSA ATP6AP2 B3GNT2 BAAT CALR CANX CAT CD14 CD44 CD93 CDH13 CEACAM5 CEACAM7 CHAT CHGA CHI3L1 CLEC16A CLEC4E CLEC6A COMT CPT1A CPT1B CPT2 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2J2 CYP2R1 CYP3A4 CYP4A11 CYP4F2 CYP4F3 CYP7A1 DAG1 DCN DEGS1 DGCR2 DGKA DGKZ DHCR24 DLD EFNA1 ELOVL2 ELOVL4 ELOVL5 ELOVL6 ENO1 ENO2 ENPP1 EPHX2 FADS2 FBP1 FCGR3B FCN1 FCN2 FCN3 FOLR1 FOLR2 FUT4 FUT7 G6PD GAL3ST1 GFPT2 GGT1 GLA GLO1 GPI GPLD1 GPNMB GPX1 GPX3 GSK3B GYS1 HADH HK2 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 ICAM1 IGF2R IL18R1 IL1RL1 ISYNA1 ITPK1 KL KLRK1 LARGE2 LCAT LCT LDHA LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPL LTA4H LTC4S MAG MASP1 MBL2 MDH2 MGLL MICA MPI MTAP NAMPT NANS NCAM1 NDST1 NEIL3 NT5E NTM OGA OGG1 OLR1 PARP1 PC PCYT1A PDHB PIGA PIGQ PIK3C2A PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G15 PLA2G1B PLA2G2A PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCB2 PLCB3 PLCG1 PLD1 PLPP3 PMM2 PNPLA2 POFUT1 PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 PYGB RENBP SDC1 SDC4 SDHB SELE SELL SELP SIRT2 SIRT4 SIRT6 SLC2A10 SLC2A4 SLC33A1 SLC35A1 SLC3A1 SLC5A1 SMPD1 SMPD2 SMPD4 SMUG1 SOAT1 SPTLC2 ST3GAL4 ST6GALNAC1 SULT1E1 TBXAS1 TM7SF2 TMED5 TMTC3 TNF UGGT2 UGT1A1 VCAM1 VCAN XYLT2	100507436 1012 10135 10159 10327 10457 1048 10555 10559 10678 10724 10855 1087 1103 1113 1116 11332 11343 120071 120227 125 126 128 1312 1374 1375 1376 142 1462 151056 1543 1544 1545 1555 1557 1558 1559 1573 1576 1579 1581 1584 1585 1586 1588 1593 160418 1605 1606 1634 1636 1718 1738 1942 2023 2026 2053 217 2180 2203 2215 2219 2220 22914 22918 22933 23236 23274 23305 23409 2348 2350 23509 23583 23659 239 240 246 2526 2529 2539 26253 2678 2717 27306 2739 28 2821 2822 2876 2878 2932 2997 3033 308 3099 31 310 32 3290 3291 3340 3383 3482 353 3705 3931 3938 3939 3956 3957 3958 3988 3990 4023 4048 4051 4056 4099 410 4153 4191 43 4351 4507 4684 4907 4968 4973 50487 50863 5091 50999 5130 51477 51548 5162 5167 51703 5277 5286 5288 5290 5291 5293 5294 5310 5315 5319 5320 5321 5329 5330 5331 5335 5337 5373 54187 54658 54898 55247 55627 5563 55757 55808 55902 5621 5648 570 57104 5716 5728 5730 5740 5742 5743 5834 5973 60481 60495 6382 6385 6390 6401 6402 6403 64132 6484 6517 6519 6523 6609 6610 6646 6718 6783 6785 6916 7108 7124 7412 79071 7941 81031 811 821 8398 84532 847 8525 8529 8547 8560 8613 8809 9091 9173 9197 929 9365 9388 93978 9415 9514 9517 9536 960 9945 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9663	aphthous stomatitis Aliases: Aphtha Aphthous ulceration Canker sore Oral aphthae oral ulcer	CAT CYP21A2 ENO1 GTDC1 LGALS1 LYZ SLC37A4 VCAM1	1589 2023 2542 3956 4069 7412 79712 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110483	autosomal recessive nonsyndromic deafness 25 Aliases: DFNB25 autosomal recessive deafness 25	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)	DisGeNET
DOID:11719	oculopharyngeal muscular dystrophy Aliases: Muscular dystrophy, oculopharyngeal	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
DOID:2712	phimosis Aliases: Tight foreskin Tight frenulum	CYP1A1 CYP1B1 CYP27B1 SRD5A2	1543 1545 1594 6716	Homo sapiens (human)	DisGeNET
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	B4GAT1	11041	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	ACE ADH1A ADH5 AKR1D1 ALDH1B1 ALG8 ALPP AMACR ATRNL1 BAAT CAT CD14 CD44 CHIT1 COG6 CYP17A1 CYP1A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP3A4 CYP3A5 CYP7A1 CYP7B1 CYP8B1 DCN DGAT2 DLAT ERLEC1 FH G6PD GGT1 HADHA HADHB HAO2 HJV HOGA1 HSD17B4 HSD3B7 ICAM1 LIPA LYZ MBOAT1 NPL PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PRKAA1 PRKAA2 PTGDS PYGM SLC17A5 SULT1E1 SULT2B1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B4 VCAM1	1118 112817 124 128 148738 154141 1544 1555 1557 1559 1576 1577 1581 1582 1586 1593 1634 1636 1737 219 2271 23600 250 2539 26033 26503 2678 27248 3030 3032 3295 3383 3988 4069 51179 5290 5291 5293 5294 5319 5320 54575 54576 54577 54578 54657 54658 54659 5562 5563 570 5730 57511 5837 6718 6783 6820 7363 7412 79053 80270 80896 8398 84649 847 929 9420 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	FBP1	2203	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4531	mucoepidermoid carcinoma Aliases: MEC	ALDH3A1 CD44 CEACAM5 FUCA1 HPGDS PIK3CA PIK3CB PIK3CD PIK3CG PTGS1 PTGS2 STT3A	1048 218 2517 27306 3703 5290 5291 5293 5294 5742 5743 960	Homo sapiens (human)	DisGeNET
DOID:0110208	Charcot-Marie-Tooth disease X-linked recessive 2 Aliases: CMTX2 Charcot-Marie-Tooth neuropathy X-linked recessive 2 X-linked Charcot-Marie-Tooth disease type 2	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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3763	hermaphroditism	AKR1C1 AKR1C2 AKR1C3 AKR1C4 CDIPT CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DHCR24 DHRS11 GAS1 HSD17B3 HSD17B7 HSD3B1 HSD3B2 MECR PGD PKD2 PRSS21 SRD5A2	10423 10942 1109 1555 1583 1584 1586 1588 1589 1645 1646 1718 2619 3283 3284 3293 51102 51478 5226 5311 6716 79154 8644	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2632	papillary serous adenocarcinoma Aliases: Micropapillary serous carcinoma Papillary serous carcinoma serous surface papillary carcinoma	CEACAM5 CEACAM7	1048 1087	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110474	autosomal recessive nonsyndromic deafness 18B Aliases: DFNB18B autosomal recessive deafness 18B	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)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	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:0080693	Noonan syndrome-like disorder with loose anagen hair 2	PPP1CB	5500	Homo sapiens (human)	Alliance of Genome Resources
DOID:4953	poliomyelitis	CHAT ICAM1 MMUT MRC1 PIK3CA	1103 3383 4360 4594 5290	Homo sapiens (human)	DisGeNET
DOID:0110424	dilated cardiomyopathy 1CC Aliases: CMD1CC	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)	DisGeNET
DOID:0110753	type 1 diabetes mellitus 15 Aliases: IDDM15 Insulin-Dependent Diabetes Mellitus 15	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)	DisGeNET DisGeNET
DOID:0050459	hyperphosphatemia	ADH1B CYP11B2 CYP24A1 CYP27B1 GALNT3 KL PGAP2 PIK3C2A SHMT1 SMPD3	125 1585 1591 1594 2591 27315 5286 55512 6470 9365	Homo sapiens (human)	DisGeNET
DOID:14159	obstructive hydrocephalus	ACSM3 ARSB B3GALNT2 B3GAT3 B3GLCT B4GAT1 CHST3 CNTN5 CNTN6 COMT CRPPA DAG1 DHCR24 EBP EOGT FIG4 FKRP FKTN GALC GBA1 GLDC GMPPB GPC3 GUSB IDS IDUA INPP5E L1CAM LARGE1 MBOAT7 MTM1 NANS NT5E OGDH PAFAH1B1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 POMGNT2 POMK POMT1 POMT2 PTDSS1 PTEN RXYLT1 SFTPA1 SFTPA2 SFTPC SFTPD SLC17A5 SUMF1 UGCG	10329 10585 10682 11041 1312 145173 148789 1605 1718 2218 2581 26229 2629 26503 2719 27255 2731 285203 285362 2990 29925 29954 3423 3425 3897 411 4534 4907 4967 5048 5160 5290 5291 5293 5294 53942 54187 55624 56623 5728 6296 6440 6441 653509 729238 729920 7357 79143 79147 84197 84892 9215 9469 9791 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1687	neovascular glaucoma Aliases: secondary angle-closure glaucoma with rubeosis	LGALS1 PRNP	3956 5621	Homo sapiens (human)	DisGeNET
DOID:118	pericardial effusion	ACADVL ACE ALG9 CAT GBA1 PMM2 PTGS2 SMUG1	1636 23583 2629 37 5373 5743 79796 847	Homo sapiens (human)	DisGeNET
DOID:14499	Fabry disease Aliases: Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase	ACE AGA ARSA ARSB ASAH1 CHIT1 CTSA CYP27A1 FADS2 G6PC1 G6PD GAA GALC GBA1 GBE1 GDPD3 GLA GLB1 GNPTAB GNPTG GUSB ICAM1 IDS IDUA LGALS3 LPL LSS MANBA MGAM NAGA NAGPA NT5E OGA PTGDS SCD SELE SFTPD SI SLC2A3 SMPD1 SMUG1 UGCG UGT1A1 UMOD VCAM1	10724 1118 1593 1636 175 23583 2538 2539 2548 2581 2629 2632 2717 2720 2990 3383 3423 3425 3958 4023 4047 410 411 4126 427 4668 4907 51172 54658 5476 5730 6319 6401 6441 6476 6515 6609 7357 7369 7412 79153 79158 84572 8972 9415	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110811	hereditary spastic paraplegia 6 Aliases: FSP3 SPG6 autosomal dominant familial spastic paraplegia type 3 autosomal dominant spastic paraplegia 6 autosomal dominant spastic paraplegia type 6	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET

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