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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 **751 - 775** of **4621** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:5292	mediastinum leiomyosarcoma Aliases: leiomyosarcoma of mediastinum	SMUG1	23583	Homo sapiens (human)
DOID:529	blepharospasm	AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 DHDDS DLAT EPM2A GBA1 GCDH GCSH GLDC GLYCTK HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SDHA SDHD ST3GAL3 ST3GAL5 SYNJ1	10715 1203 132158 151056 1557 1593 1737 22901 23236 23556 26275 2629 2639 2653 2731 27315 275 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6389 6392 6487 6900 7957 79947 8398 84342 84720 84992 8867 8869 9091 91869 93210 9487	Homo sapiens (human)
DOID:5289	uterus leiomyosarcoma Aliases: leiomyosarcoma of Corpus Uteri	CBR1 CD38 FH PIK3CA PTEN SDC1 SMUG1	2271 23583 5290 5728 6382 873 952	Homo sapiens (human)
DOID:5273	cutaneous leiomyosarcoma Aliases: leiomyosarcoma of the skin	FH	2271	Homo sapiens (human)
DOID:5268	myxoid leiomyosarcoma	ACSL4 DHCR24 DPEP1 FASN FCGR3B FH GGT1 HMMR IL1R1 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 SLC33A1 SMUG1 VCAN	142 1462 1718 1800 2182 2194 2215 2271 23583 2678 3161 3554 4360 5290 5291 5293 5294 57104 5728 5743 9197	Homo sapiens (human)
DOID:5264	epithelioid leiomyosarcoma	ACSL4 DHCR24 DPEP1 FASN FCGR3B FH GGT1 HMMR IL1R1 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 SLC33A1 SMUG1 VCAN	142 1462 1718 1800 2182 2194 2215 2271 23583 2678 3161 3554 4360 5290 5291 5293 5294 57104 5728 5743 9197	Homo sapiens (human)
DOID:526	human immunodeficiency virus infectious disease Aliases: HIV infection	ABO ACE ACOT8 ACSS2 ARSH B3GAT1 BST2 CACNA2D4 CD14 CD209 CD38 CDH13 CHI3L1 CLEC10A CLEC9A COLEC11 COMT CTSA CYP1A1 CYP27B1 CYP2B6 CYP3A4 CYP4F3 DEGS2 DGKI EFNA5 ENO1 FADS2 FCER2 FCGR3B FCN2 FREM1 FUCA1 FUT1 FUT2 G6PD GAD1 GALT GLB1 GLUL GPAT3 GPI GPX1 GPX3 HADHA HEXA HEXB HPGDS ICAM1 ICAM2 IDH1 IGF2R KLRB1 KLRC1 KLRD1 LEPR LGALS1 LGALS9 LIPA LSS LTA4H LYZ MACROD2 MAN1A1 MBL2 MICA MLYCD MRC1 NEIL1 OGG1 PARP1 PIK3CA PLA2G15 PLA2G2A PLA2G7 PLAUR PLCD3 PNPLA3 PRKAA2 PRNP PRSS21 PSAP PTEN PTGS1 PTGS2 RENBP SCD5 SDC1 SELE SELL SELP SFTPD SMUG1 SOAT1 STS TMED1 TNF UGT1A1 UNG VCAM1	10005 100507436 1012 10462 10942 11018 1116 113026 123099 1312 140733 142 1543 1555 1576 158326 1594 1636 1946 2023 2208 2215 2220 23417 23583 23659 2517 2523 2524 2539 2571 2592 27087 2720 27306 2752 28 2821 283420 2876 2878 3030 3073 3074 30835 3383 3384 3417 347527 3482 3820 3821 3824 3953 3956 3965 3988 4047 4048 4051 4069 412 4121 4153 4360 4968 5290 5320 5329 54658 5476 5563 55902 5621 5660 5728 5742 5743 5973 6382 6401 6402 6403 6441 6646 684 7124 7374 7412 78989 7941 79661 79966 80339 84803 9162 929 93589 9415 952	Homo sapiens (human)
DOID:525	central nervous system vasculitis	PNP	4860	Homo sapiens (human)
DOID:5246	obsolete hilar cholangiocellular carcinoma	HK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC2 SMUG1	23583 3098 5290 5291 5293 5294 5315 6383	Homo sapiens (human)
DOID:5241	hemangioblastoma Aliases: Capillary Hemangioblastoma	FH LGALS3 PTEN SDHB SMUG1	2271 23583 3958 5728 6390	Homo sapiens (human)
DOID:5230	hepatoerythropoietic porphyria	HPSE	10855	Homo sapiens (human)
DOID:5223	infertility	ABO ACOT7 BAAT CD14 CD44 CYP17A1 EFNA5 GBA2 H6PD HJV HSD17B1 HSD17B3 KL PLCB1 PLCZ1	11332 148738 1586 1946 23236 28 3292 3293 570 57704 89869 929 9365 9563 960	Homo sapiens (human)
DOID:5214	demyelinating polyneuropathy Aliases: peripheral demyelinating neuropathy	ACO2 ARSA FIG4 IDH1 IDH2 MAG MTMR2 PRNP PTGS2	3417 3418 4099 410 50 5621 5743 8898 9896	Homo sapiens (human)
DOID:5213	chronic inflammatory demyelinating polyradiculoneuropathy	CNTN1 CNTN2 GBE1 HPRT1 MAG PTGS2	1272 2632 3251 4099 5743 6900	Homo sapiens (human)
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	AGA ALG11 ALG12 ALG13 ALG1 ALG1L2 ALG2 ALG3 ALG6 ALG8 ALG9 ALPI ALPP APRT ATP6AP1 ATP6AP2 ATP6V0A2 B4GALT1 CCDC115 COG2 COG5 COG6 COG7 COG8 DAG1 DCN DDOST DLD DPAGT1 FCSK FUT8 GOLPH3 GPI MAN1A1 MAN1B1 MGAM MGAT2 MOGS MPDU1 MPI PGAP1 PGAP3 PGM1 PGM3 PMM2 POFUT2 RFT1 RXYLT1 SI SLC35A1 SLC35A2 SLC35A3 SLC39A8 SRD5A3 ST3GAL3 STT3A STT3B TMEM165 TUSC3	10159 10195 10329 10466 10559 11253 1605 1634 1650 1738 175 1798 197258 201595 22796 23275 23443 23545 248 250 2530 2683 2821 29929 353 3703 4121 4247 4351 440138 5236 5238 537 5373 55858 56052 57511 64083 64116 644974 6476 6487 7355 7841 79053 79087 79644 79796 79868 7991 80055 84317 84342 85365 8972 91869 91949 93210 9526	Homo sapiens (human)
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	FBP1	2203	Homo sapiens (human)
DOID:5200	urinary tract obstruction Aliases: Obstructive Uropathy urinary obstruction	ABO ACE AGXT ALG1 APRT CD14 CD248 CLEC7A EXT1 GRHPR HPSE2 ICAM1 MBL2 PCYT1B PNP PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPD SLC3A1 SRD5A2 UMOD	1636 189 2131 28 3383 353 4153 4860 56052 57124 5742 5743 60495 6441 64581 6519 653509 6716 729238 7369 929 9380 9468	Homo sapiens (human)
DOID:520	aortic disease Aliases: aortic disorder disorder of the aorta	CAT PTDSS1 SULT1E1 VCAM1	6783 7412 847 9791	Homo sapiens (human)
DOID:5199	ureteral obstruction	ACE AKT1 ATP6AP2 CALR CAT CBR1 CD44 CYP2J2 GPNMB GRHPR HPGDS HSD11B2 ICAM1 IL1RL1 ISYNA1 KL LGALS3 LYZ PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PRKAA2 PTGDS PTGES PTGS2 SDC4 SOAT1 SPHK1 SPHK2 TNF VCAM1 VNN1	10159 10457 142 1573 1636 207 27306 3291 3383 3958 4069 51477 5290 5291 5293 5294 5321 5563 56848 5730 5743 6385 6646 7124 7412 811 847 873 8876 8877 9173 9365 9380 9536 960	Homo sapiens (human)
DOID:519	aortitis	ABO CYP1A1 PCYT1A SMUG1	1543 23583 28 5130	Homo sapiens (human)
DOID:5172	endometrium carcinoma in situ Aliases: carcinoma in situ of endometrium endometrial carcinoma in situ	PTEN	5728	Homo sapiens (human)
DOID:5166	endometrial stromal tumor Aliases: endometrial Stromal neoplasm	CYP19A1	1588	Homo sapiens (human)
DOID:5165	uterine corpus sarcoma Aliases: sarcoma of Corpus Uteri sarcoma of uterus	HPRT1 LDHA ME1 PTEN SMUG1	23583 3251 3939 4199 5728	Homo sapiens (human)
DOID:5162	arteriolosclerosis	ABO ACACA ACAN ACAT1 ACE ACER2 ACLY ACOT7 ACSL1 ACSS2 ADH5 AGPAT2 AGXT AKR1B10 AKR1B1 ALDH2 ALOX12 ALOX15B ALOX5 ALPL ANXA5 APRT ARSB ARSI ATP6AP2 ATP6V0A2 CACNA2D4 CALR CANX CAT CD14 CD1D CD248 CD44 CD74 CDH13 CEL CH25H CHGA CHI3L1 CHIT1 CHST3 CLEC4E CLEC5A CLEC6A CLEC7A CLEC9A CNTN3 COLEC12 COMT CPT2 CSGALNACT2 CTBS CYP19A1 CYP1A1 CYP1A2 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP7A1 DAG1 DCN DGAT1 DHCR24 DLD ELOVL6 ENPP1 ENPP7 EPHX2 FADS1 FADS2 FCGR3B FDPS FMOD FOLR2 FUT3 FUT7 FUT8 GAL3ST1 GCK GLO1 GPI GPIHBP1 GPX1 H6PD HACD4 HAS2 HAS3 HPGDS HPSE HS3ST1 HSD11B1 HSPG2 ICAM1 IDH2 IGF2R IL1RL1 INPP5D INPP5K KL KLRK1 LCAT LDHA LGALS3 LIPA LIPC LIPG LPCAT3 LPL LTA4H LYPLA1 LYZ MBL2 MGLL MICA MMP17 MRC1 MTAP NAAA NAGLU NAMPT NANS NDUFAB1 NEU1 NT5E OGA OGG1 OLR1 PARP1 PARP3 PC PCYT1B PEMT PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G12A PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4A PLA2G4C PLA2G6 PLA2G7 PLAUR PLB1 PLPP3 PNP PNPLA2 PNPLA3 PPP1R3B PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RENBP SCD SCP2 SDC1 SDC4 SELE SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPD SGMS1 SGMS2 SGPL1 SIGLEC1 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC33A1 SLC35A1 SLC39A8 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SOAT2 SPHK1 SPHK2 ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 TBXAS1 TM7SF2 TPI1 TYMP UMOD VCAM1 VCAN VNN1	10039 100507436 1012 10135 10159 10162 10400 10434 10555 10559 1056 10724 10855 1113 1116 1118 11332 11343 128 1312 1376 142 1462 1486 151056 1543 1544 1555 1557 1558 1559 1571 1573 1576 1577 1581 1588 1593 1594 1605 1634 1636 166929 1718 1738 176 189 1890 2053 217 2180 2215 2224 22914 22933 231 2331 2350 23545 23583 23601 23659 239 240 247 249 2525 2529 2530 259230 26253 26279 2645 26503 27163 27180 27306 2739 28 2821 283420 2876 3037 3038 308 31 3290 3339 3383 338328 339221 340075 340485 3418 3482 353 3635 38 3931 3939 3958 3988 3990 3992 401494 4023 4048 4069 411 412 4153 4326 4360 4507 4669 47 4706 4758 4860 4907 4968 4973 5067 5091 51548 5167 51763 5290 5291 5293 5294 5315 5319 5320 5321 5329 54187 55454 55512 5563 55902 5621 56848 57016 57104 57124 5728 5730 5740 5742 5743 5973 6319 6342 6382 6385 6401 6402 6403 64116 6441 64581 6480 6484 6489 653509 6609 6610 6614 6646 6916 7108 7167 729238 7369 7412 79071 7941 79660 80339 81035 811 81579 821 8398 8399 8435 847 8482 8529 8605 8613 8694 8803 8876 8877 8879 9023 912 9173 9197 929 93589 9365 9388 93978 9415 9468 9469 9514 9536 9563 960 972 9957	Homo sapiens (human)
DOID:5160	arteriosclerosis obliterans	PIK3CA PIK3CB PIK3CD PIK3CG SOAT1	5290 5291 5293 5294 6646	Homo sapiens (human)

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