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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 **3051 - 3075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0050885	IMAGe syndrome Aliases: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities	SGPL1	8879	Homo sapiens (human)
DOID:0081168	HMG-CoA synthase 2 deficiency Aliases: 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency	HMGCS2	3158	Homo sapiens (human)
DOID:778	delusional disorder	ABO AKR1C4 ALDH3B1 CALR CAT COMT CYP1A2 CYP2B6 DGCR2 GAD1 GAD2 HSD3B2 IMPA1 MANEA PLA2G6 SIGLEC7	1109 1312 1544 1555 221 2571 2572 27036 28 3284 3612 79694 811 8398 847 9993	Homo sapiens (human)
DOID:5389	oxyphilic adenoma Aliases: Follicular adenoma, oxyphilic cell Oncocytoma	AMACR CD44 FH HMMR HYAL4 LDHA NCAM1 PGK1 PRSS8 PTEN PTGS1 PTGS2 SDHA SDHB SLC2A2 SLC2A4 SMUG1 VCAM1	2271 23553 23583 23600 3161 3939 4684 5230 5652 5728 5742 5743 6389 6390 6514 6517 7412 960	Homo sapiens (human)
DOID:3274	proliferative type fibrocystic change of breast Aliases: Fibrocystic change, proliferative type with atypia Fibrocystic disease, Proliferative type with Atypia Proliferating Lesion of breast without Atypia Proliferating Lesion of the breast without Atypia Proliferative Fibrocystic Change	SULT1E1 TPI1	6783 7167	Homo sapiens (human)
DOID:0060706	X-linked lymphoproliferative syndrome 2 Aliases: XIAP deficiency XLP2	ALPI ALPP CD1D DPEP1 FUT1 HPGDS HPRT1 PLCG1	1800 248 250 2523 27306 3251 5335 912	Homo sapiens (human)
DOID:1067	open-angle glaucoma Aliases: Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma	ABO ACE AKR1B1 ALDH7A1 CD38 CYP1B1 DGKD GMDS GPNMB PLCE1 PMM2 PTGDS PTGS2 TNF	10457 1545 1636 231 2762 28 501 51196 5373 5730 5743 7124 8527 952	Homo sapiens (human)
DOID:224	transient cerebral ischemia Aliases: TIA TIA - Transient ischaemic attack Transient cerebral ischaemia Transient ischemic attacks transient ischemic attack	ABO ACE ACSM3 CALR CAT CD74 CHKA CYP2C19 DHCR24 FCN1 G6PD GAD1 GAD2 GCDH GLA GLUL GOT1 GPX1 GPX3 ICAM1 LTC4S MCFD2 NAMPT OGG1 OLR1 PARP1 PCNA PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PTEN PTGIS PTGS1 PTGS2 SELL SELP SIRT6 SMPD3 SULT1E1 TNF UCP2	10135 1119 142 1557 1636 1718 2219 2539 2571 2572 2639 2717 2752 28 2805 2876 2878 3383 4056 4968 4973 5111 51548 5277 5290 5291 5293 5294 55512 5728 5740 5742 5743 6296 6402 6403 6783 7124 7351 7941 811 847 90411 972	Homo sapiens (human)
DOID:869	cholesteatoma	CLEC10A CLEC12B CLEC5A CLEC6A CLEC7A LY75 MGLL MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTGS2 STS TLR2 TLR4	10462 11343 23601 387837 4065 412 4360 5290 5291 5293 5294 5716 5743 64581 7097 7099 93978	Homo sapiens (human)
DOID:74	hematopoietic system disease Aliases: Blood disease Blood dyscrasia DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS Hematological disease blood disorder disease of haematopoietic system disease of hematopoietic system haematopoietic system disease	ALPP ATRNL1 CALR CLEC1B CYP2J2 FUT1 G6PD GOLPH3 HPRT1 ICAM5 IDH2 IL18R1 LMAN1 MCFD2 PIGA PIK3CD PKLR POGLUT1 SMUG1 SOAT1 UGT1A1	1573 23583 250 2523 2539 26033 3251 3418 3998 51266 5277 5293 5313 54658 56983 64083 6646 7087 811 8809 90411	Homo sapiens (human)
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)
DOID:12273	anisometropia	PTEN SLC35A2	5728 7355	Homo sapiens (human)
DOID:0050861	colorectal adenocarcinoma	BRAF CD44 CYP24A1 CYP4F8 GSK3B TP53 TPST1	11283 1591 2932 673 7157 8460 960	Homo sapiens (human)
DOID:0050669	spastic cerebral palsy	GAD1 GAD2	2571 2572	Homo sapiens (human)
DOID:0050747	obsolete lymphoplasmacytic lymphoma	ACADVL ACSBG1 ANXA5 CD22 CD38 CD55 CLEC12A COLEC10 FCER2 HAS1 HAS2 HMMR LIPC LPL NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 SLC35B2 SMUG1 SOAT1	10135 10584 160364 1604 2208 23205 23583 3036 3037 308 3161 347734 37 3990 4023 4684 5290 5291 5293 5294 5336 6646 933 952	Homo sapiens (human)
DOID:8956	cowpox Aliases: yaba	ABO CYB5R3 FCN2 IL18R1	1727 2220 28 8809	Homo sapiens (human)
DOID:1405	primary angle-closure glaucoma Aliases: primary Angle Closure Glaucoma	AKR1C4 CAT CHAT CYP1B1 CYP2B6 DCN DPM2 NT5E OGG1	1103 1109 1545 1555 1634 4907 4968 847 8818	Homo sapiens (human)
DOID:12704	ataxia telangiectasia Aliases: Boder-Sedgwick syndrome Louis Bar syndrome	ACACA ACAT1 ALOX5 ARSA CAT CD38 ENPP2 G6PD GAA HPRT1 KLRK1 LTC4S NCAM1 PARP10 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PTGS1 SOAT1 TBXAS1 TM7SF2 XYLT2	151056 22914 240 2539 2548 31 3251 38 4056 410 4684 5168 5290 5291 5293 5294 5321 5742 64132 6646 6916 7108 847 84875 952	Homo sapiens (human)
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	ACAN CYP2C19 DCN PLCG1	1557 1634 176 5335	Homo sapiens (human)
DOID:8584	Burkitt lymphoma Aliases: Burkitt lymphoma/leukaemia Burkitt's Lymphoma Burkitt's tumor Burkitt's tumor or lymphoma malignant lymphoma, Burkitt's type small Non-Cleaved cell Lymphoma, Burkitt's type	A4GALT ACE AKR1B10 ALOX5 BST1 BST2 CALR CAT CD22 CD33 CD38 CD44 CEACAM6 COG1 CYP1A1 CYP2E1 ENO1 FCER2 FCGR3B FCN2 FH FUT4 G6PD GAPDH GBA1 GLB1 HK2 HPGDS ICAM1 IDH2 IL18R1 IL18RAP INPP5D KL KLRK1 LGALS1 LGALS3 LGALS4 LGALS9 LTA4H LYZ MASP2 MBL2 MCAT MICA NAAA NAGLU NAMPT NCAM1 PARP1 PC PGAP1 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G4A PLCG2 PTEN PTGS2 RPN1 SDC1 SELL SELP SHMT1 SIRT4 SMC3 SMUG1 SOAT1	100507436 10135 10747 142 1543 1571 1636 2023 2208 2215 2220 2271 22914 23409 23583 240 2526 2539 2597 2629 27163 2720 27306 27349 3099 3383 3418 3635 3956 3958 3960 3965 4048 4069 4153 4669 4680 4684 5091 5277 5290 5291 5293 5294 5305 5321 5336 53947 57016 5728 5743 6184 6382 6402 6403 6470 6646 683 684 80055 811 847 8807 8809 9126 933 9365 9382 945 952 960	Homo sapiens (human)
DOID:96	staphyloenterotoxemia Aliases: Staphylococcal food poisoning Staphylococcal toxaemia due to food staphyloenterotoxicosis	SFTPA1	653509	Homo sapiens (human)
DOID:9423	blepharitis	MSMO1 PIGN PLCD1 SMC3	23556 5333 6307 9126	Homo sapiens (human)
DOID:0060340	ciliopathy	PKD2	5311	Homo sapiens (human)
DOID:0060444	granular corneal dystrophy 2 Aliases: CGD2 avellino corneal dystrophy combined granular-lattice corneal dystrophy corneal dystrophy, Avellino type granular corneal dystrophy type 2	ACE CAT CD1D GCDH LPIN2 PARP1 SDC1	142 1636 2639 6382 847 912 9663	Homo sapiens (human)
DOID:0070300	multiple epiphyseal dysplasia 4 Aliases: EDM4 MED4 Polyepiphyseal dysplasia type 4 multiple epiphyseal dysplasia with bilateral patellae multiple epiphyseal dysplasia with clubfoot rMED	SLC26A2	1836	Homo sapiens (human)

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