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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 **501 - 525** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0080409	familial adenomatous polyposis 1	ADH1C ALDH1A3 ALOX15 ALPP ANXA5 B3GNT6 BAAT CALR CBR1 CD44 CD55 CDH13 CEACAM5 CEACAM7 CLC CNTN1 DLD DPEP1 ENPP7 FUT4 G6PD GALNT12 GCK GLB1 GUSB HPGDS KLRK1 LCT LGALS4 MICA MRC1 MUTYH NTHL1 OGG1 PAFAH1B1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 RPE RPIA SMPD1 SMUG1 SOAT1 TNKS UGT1A3	100507436 1012 1048 1087 1178 126 1272 142 151056 1604 1738 1800 192134 220 22914 22934 23583 246 250 2526 2539 2645 2720 27306 2990 308 339221 3938 3960 4360 4595 4913 4968 5048 5290 5291 5293 5294 5311 5319 5320 5321 5336 54659 5563 570 5716 5728 5742 5743 6120 6609 6646 7941 79695 811 8398 8399 8658 873 9536 960	Homo sapiens (human)
DOID:580	uric acid nephrolithiasis Aliases: acute urate nephropathy	AGPAT2 AGXT ALPL ALPP APRT ATRNL1 CAT CD14 CD44 CLC CTNS CYP24A1 CYP27A1 CYP3A5 DGKD DGKH ENO1 G6PC1 GPX1 GRHPR HAO1 HPGDS HPRT1 HSPG2 ITPKC KL NTNG1 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCD1 PRPS1 PTGS2 SI SLC37A4 SLC3A1 UGT1A1 UMOD	10555 1178 1497 1577 1591 1593 160851 189 2023 22854 249 250 2538 2542 26033 27306 2876 3251 3339 353 4952 5290 5291 5293 5294 5310 5333 54363 54658 5631 5743 6476 6519 7369 80271 847 8527 929 9365 9380 960	Homo sapiens (human)
DOID:715	obsolete T-cell lymphoblastic leukemia/lymphoma	CD209 CD38 CD44 CNTN2 COMT CYP19A1 FCGR3B FUT4 ICAM1 LGALS1 LGALS9 MRC1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN SACM1L SELL SIGLEC7 SOAT1 TALDO1 TMED9 VCAM1	1312 1588 2215 22908 2526 27036 30835 3383 3956 3965 4360 4507 4684 4860 5290 5291 5293 5294 54732 5728 6402 6646 6888 6900 7412 952 960	Homo sapiens (human)
DOID:962	neurofibroma	ACHE CD38 CD44 CNTN2 PTEN SDHB SDHC SMUG1 SOAT1	23583 43 5728 6390 6391 6646 6900 952 960	Homo sapiens (human)
DOID:4543	retrograde amnesia	ACHE ACSF3 ALOX5 ARSA ARSD CAT CD44 CD74 CHAT CHI3L1 COMT CPT1A CYP1A2 CYP1B1 ELOVL3 FKRP FUT10 GAD1 GLUL GNE GPX1 HGSNAT HSD11B1 HSD11B2 IDS INPPL1 KL LGALS3 LGALS4 MYORG NAGLU NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLA2G6 PLD1 PLD2 PPT1 PRKAA2 PRNP PSAP PTEN PTGS1 PTGS2 SDHD SFTPA1 SLC17A5 SMPD1 SMUG1 SPHK2 ST3GAL4 STS SUCLA2 SYNJ1 UGT1A1	10020 10724 1103 1116 1312 1374 138050 142 1544 1545 197322 23583 240 2571 26503 2752 2876 3290 3291 3423 3636 3958 3960 410 412 414 43 4669 4907 5290 5291 5293 5294 5315 5321 5337 5338 54658 5538 5563 5621 5660 56848 5728 5742 5743 57462 6392 6484 653509 6609 79147 83401 8398 847 84750 8803 8867 9365 960 972	Homo sapiens (human)
DOID:8541	Sezary's disease Aliases: Sezary disease Sezary syndrome	ANXA5 CD44 IL18R1 KLRK1 MTAP PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SDC4 SELL SOAT1	142 22914 308 4507 5290 5291 5293 5294 5335 5728 6385 6402 6646 8809 960	Homo sapiens (human)
DOID:6262	follicular dendritic cell sarcoma Aliases: Follicular Dendritic cell sarcoma Follicular dendritic cell tumour	FCER2 SLC35B2	2208 347734	Homo sapiens (human)
DOID:0111382	ischiocoxopodopatellar syndrome Aliases: SPS Scott-Taor syndrome congenital coxa vara, patella aplasia and tarsal synostosis coxo-podo-patellar syndrome coxopodipatellar syndrome ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension ischiopatellar dysplasia patella aplasia, coxa vara, and tarsal synostosis small patella syndrome	GAD2 PLA2G1B PLA2G2A PLA2G6	2572 5319 5320 8398	Homo sapiens (human)
DOID:3846	adamantinous craniopharyngioma Aliases: Adamantinous Rathke's Pouch tumor craniopharyngioma, adamantinomatous	ATP6AP2 CD44 CEL CYP2E1 GAD1 GPX1 HSD11B1 IDH1 LGALS1 NDUFAB1	10159 1056 1571 2571 2876 3290 3417 3956 4706 960	Homo sapiens (human)
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:3001	female reproductive endometrioid cancer Aliases: endometrioid neoplasm endometrioid tumor	PTEN	5728	Homo sapiens (human)
DOID:3007	breast ductal carcinoma Aliases: duct carcinoma	AKR1C3 ALDOA ALOX15 CD109 CD44 CRLS1 HPGDS HSD17B7 NEU1 PCYT1B PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDC1 SELE SMUG1 SULF1 TEX101 VTCN1	135228 226 23213 23583 246 27306 2923 4758 51478 5290 5291 5293 5294 54675 5728 5743 6382 6401 79679 83639 8644 9468 960	Homo sapiens (human)
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	NSDHL PIK3CA PTEN	50814 5290 5728	Homo sapiens (human)
DOID:0110123	Bardet-Biedl syndrome 1 Aliases: BBS1	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	AGXT CYP4F3 GAS1 PKLR SPTLC1 SPTLC2	10558 189 2619 4051 5313 9517	Homo sapiens (human)
DOID:4552	large cell carcinoma	CD44 CEACAM5 CYP1A1 GLDC ME1 SLC2A3	1048 1543 2731 4199 6515 960	Homo sapiens (human)
DOID:7608	parathyroid adenoma Aliases: adenoma of the Parathyroid gland	AKR1C3 CYP27B1 G6PD IDH1 IDH2 KL LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDHA SMUG1 VCAM1	1594 23583 2539 3417 3418 3958 5290 5291 5293 5294 5728 6389 7412 8644 9365	Homo sapiens (human)
DOID:0110258	cataract 10 multiple types Aliases: CTRCT10	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:7843	female breast carcinoma Aliases: Mammary carcinoma of female breast	ALDH2 COMT CYP17A1 CYP19A1 CYP1A1 CYP1B1 MUTYH OGG1 PIK3CA PTEN	1312 1543 1545 1586 1588 217 4595 4968 5290 5728	Homo sapiens (human)
DOID:0112376	muscular dystrophy-dystroglycanopathy type B15 Aliases: MDDGB15 congenital muscular dystrophy DPM3-related	DPM3	54344	Homo sapiens (human)
DOID:3565	meningioma Aliases: meningeal neoplasm meningothelial cell tumor neoplasm of the meninges primary Meningeal tumor	ALDH1A3 ALOX5 ALPL CAT CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP2C9 CYP2E1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IDH1 IDH2 IL18R1 LARGE1 LDHA LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SCP2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TMEM165 TNKS VCAN	10232 10724 1462 151056 1543 1545 1559 1571 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3417 3418 3939 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 55858 5728 5730 5742 5743 6342 6390 6391 6392 64386 6646 7941 8398 847 8658 8809 9215 945 960	Homo sapiens (human)
DOID:4253	melorheostosis	CPO PTGS2	130749 5743	Homo sapiens (human)
DOID:13133	HELLP syndrome	GAPDH HADHA HPGDS HSPG2 IL18R1 MBL2 SIRT4 SLC17A5	23409 2597 26503 27306 3030 3339 4153 8809	Homo sapiens (human)
DOID:3265	chronic granulomatous disease Aliases: Bridges-Good syndrome CGD Congenital dysphagocytosis Quie syndrome	CAT CEL CYP27B1 EFNA2 G6PD MGAT2 PARP9 PIK3CD PLB1 PMM2 SLC27A5 SLC35A2	1056 10998 151056 1594 1943 2539 4247 5293 5373 7355 83666 847	Homo sapiens (human)
DOID:0050536	obsolete SC phocomelia syndrome Aliases: Hypomelia Hypotrichosis Facial hemangioma syndrome SC PSEUDOTHALIDOMIDE SYNDROME	MELTF SMC3	4241 9126	Homo sapiens (human)

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