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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 **4076 - 4100** of **4621** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:6376	hypersplenism Aliases: hypersplenia	CYP1A2 SMPD1	1544 6609	Homo sapiens (human)
DOID:639	acute disseminated encephalomyelitis Aliases: ADEM acute disseminated encephalitis	CHI3L1	1116	Homo sapiens (human)
DOID:640	encephalomyelitis Aliases: Encephalitis &/or myelitis	ACE ADH5 AGA ALOX5 APRT ARSA ATP6V0A2 B3GAT1 CAT CD14 CD1D CD38 CD44 CD48 CD74 CD93 CEMIP CERS2 CERS6 CH25H CHAT CHGA CHI3L1 CLEC12A COMT CPT1A CPT2 CYP17A1 CYP27B1 CYP46A1 DEGS1 DGAT1 ENO2 ENPP1 FASN FCER2 FCN1 FOLR2 FUT7 FUT8 GAD1 GAD2 GANAB GAPDH GCK GLUL GPI HPGDS HPRT1 HPSE ICAM1 ICAM5 IL1R1 ISYNA1 KL KLRK1 L2HGDH LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LY75 MASP2 MBL2 MGLL MRC1 NCAM1 NDST1 NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PRNP PSMD10 PTEN PTGDS PTGES PTGS2 RGMA RTN4R SDC1 SELE SELP SEMA7A SIGLEC12 SIGLEC1 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 STS SULT1E1 TMED5 TPI1 VCAM1	10724 10747 10855 10858 1103 1113 1116 11343 128 1312 1374 1376 142 151056 1586 1594 160364 1636 175 2026 2194 2208 2219 22914 22918 23193 2350 23545 23583 240 2529 2530 253782 2571 2572 2597 2645 27087 27306 2752 2821 29956 3251 3340 3383 353 3554 3939 3956 3958 3960 3964 3965 4065 410 412 4153 4360 4684 4907 50999 51477 51548 5167 5290 5291 5293 5294 5315 5319 5320 5321 5621 56848 56963 5716 57214 5728 5730 5743 6382 6401 6403 6484 65078 6609 6614 6646 6783 7087 7167 7412 79944 8398 847 8482 8560 8694 8877 89858 9023 912 929 9365 952 9536 960 962 972	Homo sapiens (human)
DOID:6404	metanephric adenoma	B3GAT1	27087	Homo sapiens (human)
DOID:6406	double outlet right ventricle Aliases: Dextrotransposition of aorta Double outlet right ventricle with subpulmonary ventricular septal defect Taussig-Bing syndrome or defect	CERS1 CFC1 COMT DGCR2 GPC3 NT5E PTEN PTGS2 TMEM260 UGCG	10715 1312 2719 4907 54916 55997 5728 5743 7357 9993	Homo sapiens (human)
DOID:6419	tetralogy of Fallot Aliases: Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle	ACE ACSM3 ALDH2 CD48 CERS1 COMT EOGT FIG4 GAS1 GPC5 HAS2 HIBCH PFKL PIGL PIGN SLC35A2 SULT1E1	10715 1312 1636 217 2262 23556 2619 26275 285203 3037 5211 6296 6783 7355 9487 962 9896	Homo sapiens (human)
DOID:6420	pulmonary valve stenosis	ARSD B3GLCT B4GALT7 CHST3 CYP24A1 ENPP1 FKTN G6PC3 GALNT1 PIGQ PMM2 SMC3	11285 145173 1591 2218 2589 414 5167 5373 9091 9126 92579 9469	Homo sapiens (human)
DOID:643	progressive multifocal leukoencephalopathy	ARSF CAT CD14 GAD1 HPGDS PARP1 PLAUR PRNP PSAP SCP2 SOAT1	142 2571 27306 416 5329 5621 5660 6342 6646 847 929	Homo sapiens (human)
DOID:6432	pulmonary hypertension	ACE ALOX5 CD209 CYP1A1 CYP2J2 DCN ENO1 EPHX2 HAS1 HAS2 HAS3 HK1 HYAL1 HYAL2 ICAM1 LGALS3 NAMPT PDIA3 PLA2G7 PTGIS PTGS2 SLC2A4 SMPD3 TNF VCAM1	10135 1543 1573 1634 1636 2023 2053 240 2923 3036 3037 3038 30835 3098 3373 3383 3958 55512 5740 5743 6517 7124 7412 7941 8692	Homo sapiens (human)
DOID:6438	malignant choroid melanoma Aliases: malignant melanoma of choroid melanoma of the Choroid	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:6457	Cowden syndrome Aliases: Cowden disease Lhermitte-Duclos disease dysplastic Gangliocytoma of Cerebellum	ACAN ACAT1 ACE ARSD CEACAM6 CHST3 COL9A2 CYP11A1 DGCR2 GPX1 IL18RAP MBL2 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PTEN SCD SDC1 SDHB SDHC SDHD SORD	1298 1583 1636 176 2876 38 414 4153 4595 4680 5290 5291 5293 5294 5728 6319 6382 6390 6391 6392 6652 8807 9469 9993	Homo sapiens (human)
DOID:6458	cerebellar liponeurocytoma Aliases: Lipomatous Medulloblastoma	IDH1	3417	Homo sapiens (human)
DOID:648	kuru Aliases: kuru encephalopathy	PRNP	5621	Homo sapiens (human)
DOID:6482	lung acinar adenocarcinoma Aliases: acinar adenocarcinoma of the lung	LGALS4 TNKS	3960 8658	Homo sapiens (human)
DOID:649	prion disease Aliases: Prion disease pathway Prion protein disease Spongiform Encephalopathy prion induced disorder transmissible spongiform encephalopathy	ACHE BST1 CD14 CD44 CHI3L1 GPI LGALS1 OGG1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PRNP PTGS2 SMUG1	1116 23583 2821 2923 3956 43 4968 5290 5291 5293 5294 5563 5621 5743 683 929 960	Homo sapiens (human)
DOID:6496	obsolete extraskeletal myxoid chondrosarcoma	PTEN	5728	Homo sapiens (human)
DOID:6498	seborrheic keratosis	ACE AKR1B10 ALOX12 ALOX12B CD14 CD1D CD44 CHI3L1 COMT CYP24A1 CYP2B6 DCN DHCR24 EBP ENPP2 FH GALNTL5 GBA1 HK2 HSD11B1 IL1R1 INPP5A KDSR KL LGALS3 LYZ MINPP1 MMUT MSMO1 NTHL1 NTM OGG1 OLR1 PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLCD1 PLD2 POFUT1 PPT1 PRSS8 PTEN PTGS2 SCD SDC4 SDHD SIRT6 SOAT1 SPHK2 STS VCAM1	10682 1116 1312 1555 1591 1634 1636 168391 1718 2271 23509 239 242 2531 2629 3099 3290 3554 3632 3958 4069 412 4594 4913 4968 4973 50863 51548 5168 5209 5236 5290 5291 5293 5294 5321 5333 5338 5538 5652 56848 57016 5728 5743 6307 6319 6385 6392 6646 7412 912 929 9365 9562 960	Homo sapiens (human)
DOID:65	connective tissue disease Aliases: connective tissue disorder disorder of connective tissue	ACAN ACE ALDH7A1 ALPL ALPP ATP6V0A2 ATRNL1 B3GALT6 B3GAT1 B4GALT7 CD22 CEACAM5 CHI3L1 COL9A2 CTNS CYP24A1 CYP3A5 DCN ENPP1 EXT1 EXT2 FDPS GLB1 GLO1 GPNMB GPX1 HPRT1 IDUA IL1R1 INPPL1 KL KLRB1 MGLL NT5E PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLOD3 PNPLA2 SCP2 SDC1 SELE SLC2A10 SOAT1 SPHK2	10457 1048 1116 11285 11343 126792 1298 1497 1577 1591 1634 1636 176 2131 2132 2224 23545 249 250 26033 27087 2720 2739 2876 3251 3425 3554 3636 3820 4907 501 5130 5167 5290 5291 5293 5294 5310 5311 56848 57104 6342 6382 6401 6646 81031 8985 933 9365	Homo sapiens (human)
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	APRT HPRT1 PNP UMPS	3251 353 4860 7372	Homo sapiens (human)
DOID:6536	plasma cell neoplasm Aliases: Plasma cell dyscrasia Plasma cell tumour Plasmacytic tumor	B3GAT1 CD38 CEACAM6 HAS1 LPL MAG NCAM1 PIGA PRSS21 PSAP PTEN SDC1	10942 27087 3036 4023 4099 4680 4684 5277 5660 5728 6382 952	Homo sapiens (human)
DOID:654	overnutrition	ACHE ECHS1 GPAM LPL MOGAT1 PRKAA2	116255 1892 4023 43 5563 57678	Homo sapiens (human)
DOID:6543	acne Aliases: Acne varioliformis acne vulgaris frontalis acne	ACE AGA CAT CHI3L1 COMT CYP17A1 CYP19A1 ENPP1 GALNS H6PD HSD17B3 HSD3B1 HSD3B2 L1CAM LPIN2 LPL LYZ PAPSS2 PTGS2 ST8SIA4 TLR2 TLR4 TNF XYLT1	1116 1312 1586 1588 1636 175 2588 3283 3284 3293 3897 4023 4069 5167 5743 64131 7097 7099 7124 7903 847 9060 9563 9663	Homo sapiens (human)
DOID:6548	angiomatous meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	ACADM ACAT1 ACSF3 AGXT ALG11 ALPL CHKB CYP27A1 ECHS1 FUT1 G6PD GALK1 GALT GCDH GLA GLB1 GPD1 HADHA HAO1 HAO2 HEXA HEXB HIBCH HPRT1 HSD11B2 IDUA LCAT LDHB MLYCD MMUT MRC1 PDHA1 PLA2G4A PLA2G7 PMM2 SGPL1 SLC37A4 STS SUMF1 TKT TNKS TPI1 TYMP	1120 1593 189 1890 1892 197322 23417 249 2523 2539 2542 2584 2592 26275 2639 2717 2720 2819 285362 3030 3073 3074 3251 3291 34 3425 38 3931 3945 412 4360 440138 4594 51179 5160 5321 5373 54363 7086 7167 7941 8658 8879	Homo sapiens (human)
DOID:656	adrenal adenoma Aliases: adenoma of the Adrenal gland	ACACA ACADVL AKR1C3 ALOX15B CHGA CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 CYP4F3 DHCR24 G6PD GAPDH HSD11B2 HSD3B2 SDHB SDHC SDHD SMUG1	1113 1555 1583 1584 1585 1586 1588 1589 1718 23583 247 2539 2597 31 3284 3291 37 4051 6390 6391 6392 8644	Homo sapiens (human)

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