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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 **1251 - 1275** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:5348	adult endodermal sinus tumor Aliases: adult Yolk Sac neoplasm adult endodermal sinus neoplasm	GPC3	2719	Homo sapiens (human)
DOID:5339	cyclic hematopoiesis Aliases: Cyclic neutropenia Cyclical neutropenia Neutropenia, periodic cyclic agranulocytosis	CALR G6PC3 IL1R1 PNP PRKAA2 PTGS2 SLC35A2	3554 4860 5563 5743 7355 811 92579	Homo sapiens (human)
DOID:5338	gingival hypertrophy Aliases: hypertrophy of gingivae	AGA CYP2C9 GLB1 GUSB IDUA MAN2B1 MGAT2 PIGA PIGN PIGS SC5D SLC17A5	1559 175 23556 26503 2720 2990 3425 4125 4247 5277 6309 94005	Homo sapiens (human)
DOID:533	thymus gland disease Aliases: disease of thymus gland	ACSM3 CYP17A1 CYP19A1 GAS1 GPC1 L1CAM SMPD3	1586 1588 2619 2817 3897 55512 6296	Homo sapiens (human)
DOID:5327	retinal detachment	ALG12 B3GALNT2 B4GAT1 CHI3L1 CHST14 COL9A2 CRPPA CYP1B1 DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RPE RXYLT1 TNF XYLT2	10329 10585 11041 1116 113189 1298 148789 1545 1605 2218 29925 29954 55624 5728 6120 64132 7124 729920 79087 79147 84197 84892 9215	Homo sapiens (human)
DOID:5327	retinal detachment	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:5327	retinal detachment	Tnf	21926	Mus musculus (house mouse)
DOID:5325	Roberts syndrome Aliases: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE RBS Roberts-Sc Phocomelia Syndrome SC phocomelia syndrome	MELTF SMC3	4241 9126	Homo sapiens (human)
DOID:5304	ovarian clear cell adenocarcinoma	ANXA4 NEU3 PIK3CA	10825 307 5290	Homo sapiens (human)
DOID:5303	cervical clear cell adenocarcinoma Aliases: Clear cell carcinoma of the Cervix Uteri	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:530	eyelid disease	ALOX5 CEACAM5 CYP27A1 EPHX2 G6PC1 GPC1 PTGS1 SLC37A4	1048 1593 2053 240 2538 2542 2817 5742	Homo sapiens (human)
DOID:5299	endometrial clear cell adenocarcinoma Aliases: Clear cell carcinoma of Endometrium	GPC3	2719	Homo sapiens (human)
DOID:5296	liver leiomyosarcoma Aliases: leiomyosarcoma of the Liver	SMUG1	23583	Homo sapiens (human)
DOID:5295	intestinal disease	ACE ALG8 CAT CD44 CEACAM5 CEACAM6 CEACAM7 COG6 DGAT1 G6PC1 GP2 GUSB LCT LPIN2 LYZ MICA MUTYH NCAM1 OGA PARP1 PTGS1 PTGS2 REG1B SI STS	100507436 1048 10724 1087 142 1636 2538 2813 2990 3938 4069 412 4595 4680 4684 5742 5743 57511 5968 6476 79053 847 8694 960 9663	Homo sapiens (human)
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	Lepr Tnf	24536 24835	Rattus norvegicus (Norway rat)
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:526	human immunodeficiency virus infectious disease Aliases: HIV infection	Lepr Tnf	16847 21926	Mus musculus (house mouse)
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)

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