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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 **5451 - 5475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:10423	acute pericementitis Aliases: acute periodontitis	CD14 CYP1A1 FCGR3B GLT6D1 IL1R1 MBL2 MMP25 PTGS2 SIGLEC5 SMPD3	1543 2215 3554 360203 4153 55512 5743 64386 8778 929	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:3969	thyroid gland papillary carcinoma Aliases: Papillary carcinoma of the Thyroid gland	ACE ACHE AGK AGRN AKR1C2 ALDH1A3 ALOX12B ALOX5 AMACR ANXA4 ANXA5 APRT B4GALNT3 BRAF CAT CD38 CD44 CD74 CEMIP CERS1 CERS2 CHI3L1 CPT1C CYP19A1 CYP1A1 CYP24A1 CYP27B1 CYP2R1 DCN DHCR24 EBP ELOVL2 ENPP2 FASN FCER2 FCGR3B FH FUCA1 FUT4 G6PD GAPDH GAS1 GGT1 GLA GPC3 GPI GPNMB GPX3 GUSB HK2 HPGDS HPRT1 HPSE ICAM1 IDH1 IL1R1 INPP4B INPPL1 KLB L1CAM LDHA LDHB LGALS1 LGALS3 LMAN2L MCAT MINPP1 MMUT MRC1 NCAM1 NT5E OGG1 PARG PARP1 PC PCYT1A PDHB PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G6 PLD2 PRKAA2 PTEN PTGDS PTGES3 PTGES PTGIS PTGS2 RECK RPIA SCD SDC4 SDHB SELE SELL SHMT1 SIRT6 SLC2A3 SMUG1 SPHK1 SPHK2 TKTL1 TM7SF2 TP53 TPI1 TYMP UGCG	10457 10682 10715 10728 10855 1116 120227 126129 142 152831 1543 1588 1591 1594 1634 1636 1646 1718 1890 2194 220 2208 2215 2271 22934 23583 23600 240 242 2517 2526 2539 2597 2619 2678 2717 2719 27306 27349 2821 283358 2878 2990 29956 307 308 3099 3251 3383 3417 353 3554 3636 375790 3897 3939 3945 3956 3958 43 4360 4594 4684 4907 4968 5091 5130 51548 5162 5168 5230 5236 5290 5291 5293 5294 5315 5319 5320 5338 54898 5563 55750 56848 57214 5728 5730 5740 5743 6319 6385 6390 6401 6402 6470 6515 673 7108 7157 7167 7357 81562 8277 8398 8434 847 8505 8821 8877 952 9536 9562 960 972	Homo sapiens (human)
DOID:0110303	autosomal dominant limb-girdle muscular dystrophy type 1H Aliases: LGMD1H muscular dystrophy limb-girdle type 1H	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	HPSE2 HPSE	10855 60495	Homo sapiens (human)
DOID:8446	intussusception Aliases: Intussusception of intestine Invagination of intestine or colon	PCYT1A PTEN SLC35G1	159371 5130 5728	Homo sapiens (human)
DOID:3535	Unverricht-Lundborg syndrome Aliases: Unverricht - Lundborg disease Unverricht's disease Unverricht-Lundborg disease	AMT ARSA ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 DHDDS EPM2A GBA1 GCSH GLDC GLYCTK HEXB HIBCH HMGCL INPP4A ISYNA1 MECR NAGA NEU1 NGLY1 PFKL PGAP2 PGAP3 PIGA PIGL PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SDHA SDHD ST3GAL3 ST3GAL5 SYNJ1 TMED9	10715 1203 132158 1557 1593 23236 26275 2629 2653 2731 27315 275 284098 3074 3155 3631 410 427 4668 4758 51102 51227 51477 5211 523 5277 5286 54732 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:5511	dysgerminoma of ovary Aliases: Ovarian Dysgerminoma	ACE PTEN	1636 5728	Homo sapiens (human)
DOID:4202	brain stem glioma Aliases: Brainstem Neuroglial tumor	DHDDS IDH1 IDH2 PIK3CA	3417 3418 5290 79947	Homo sapiens (human)
DOID:9893	periodontosis	ALOX5 CD14 CYP1A1 DGKA FCGR3B GLT6D1 IL1R1 MBL2 MMP25 PAFAH1B1 PTGS2 SELE SIGLEC5 SMPD3 VCAM1	1543 1606 2215 240 3554 360203 4153 5048 55512 5743 6401 64386 7412 8778 929	Homo sapiens (human)
DOID:1759	American histoplasmosis	ATP6V1A LGALS1	3956 523	Homo sapiens (human)
DOID:6245	renal oncocytoma Aliases: Oncocytoma of kidney renal epithelial Oncocytic tumor	AMACR CD44 HMMR HYAL4 LDHA PIK3CA PRSS8 PTGS2 SDC1 SLC2A2 SLC2A4	23553 23600 3161 3939 5290 5652 5743 6382 6514 6517 960	Homo sapiens (human)
DOID:0060224	atrial fibrillation Aliases: A-fib AFib	ABO ACADL ACE ACOT7 ACSS2 ADH1B AGPAT2 AKR1A1 ALDH2 AMACR ANXA4 ASAH1 ATP6AP2 CACNA2D1 CACNA2D4 CALR CAT CD14 CD44 CD55 CHAT CHGA CHI3L1 CNTN2 CNTN5 COG2 COG5 COL9A2 CPM CYP11B2 CYP1A2 CYP2C19 CYP2C9 CYP2J2 CYP3A4 CYP3A5 CYP4F2 DGKB DLD EFNA5 ENO2 EPHX2 FADS1 FADS2 FCGR3B GGT1 GLA GPD1L HSD11B1 HSD11B2 HSPG2 ICAM1 INPP5D INPPL1 ISYNA1 ITPK1 KCNQ1 KL LCAT LGALS3 LIPC NANS OLR1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G15 PLA2G7 PLCG1 PPP1R3A PRSS21 PTGS2 RECK RENBP RGMB RPE SELE SELP SLC2A3 SLC33A1 SLC35F1 SLC35G1 SLC39A8 SMPD1 SMUG1 SOAT1 STS SULT1E1 TLR2 TNF UST VCAM1 XXYLT1	10090 10159 10327 10466 10555 10942 1103 1113 1116 11332 125 1298 1368 142 152002 1544 1557 1559 1573 1576 1577 1585 159371 1604 1607 1636 1738 1946 2026 2053 217 2215 222553 22796 23171 23583 23600 23659 2678 2717 28 285704 307 3290 3291 33 3339 3383 3635 3636 3705 3784 3931 3958 3990 3992 412 427 4973 5130 51477 5290 5291 5293 5294 5311 5335 53942 54187 5506 55902 5743 5973 6120 6401 6403 64116 6515 6609 6646 6783 6900 7097 7124 7412 781 7941 811 8434 847 8529 9197 929 93589 9365 9415 960	Homo sapiens (human)
DOID:4306	radiculopathy Aliases: pinched nerve	APRT TNF	353 7124	Homo sapiens (human)
DOID:3368	Ewing sarcoma of bone Aliases: Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor bone Ewing sarcoma bone localized Ewing sarcoma bone localized Ewing's sarcoma localized Skeletal Ewing's sarcoma	NEU1 SMUG1	23583 4758	Homo sapiens (human)
DOID:0060463	NUT midline carcinoma Aliases: nuclear protein in testis midline carcinoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:0110783	hereditary spastic paraplegia 32 Aliases: SPG32 autosomal recessive spastic paraplegia 32 autosomal recessive spastic paraplegia type 32	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:3829	pituitary adenoma Aliases: adenoma of the Pituitary gland	ALDH1A3 ALOX5 ALPL CAT CD33 CD44 CD55 CDH13 CYP19A1 CYP1A1 CYP1B1 CYP2C9 CYP2E1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 HSD11B2 IDH1 IDH2 IL18R1 LARGE1 LDHA LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PRKAA2 PTEN PTGDS PTGS1 PTGS2 SCP2 SDHA SDHB SDHC SDHD SMUG1 SOAT1 STS TBXAS1 TIPARP TMEM165 TNKS VCAN	1012 10232 10724 1462 151056 1543 1545 1559 1571 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3291 3417 3418 3939 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5563 55858 5728 5730 5742 5743 6342 6389 6390 6391 6392 64386 6646 6916 7941 8398 847 8658 8809 9215 945 960	Homo sapiens (human)
DOID:10460	nasopharyngitis Aliases: chronic nasopharyngitis	ICAM1 PLAAT3 RECK SELP SLC17A5 SMUG1	11145 23583 26503 3383 6403 8434	Homo sapiens (human)
DOID:0080153	medium chain acyl-CoA dehydrogenase deficiency	ACADM ACADS ARSA CPT1A CPT2 SLC17A5	1374 1376 26503 34 35 410	Homo sapiens (human)
DOID:0110910	leukocyte adhesion deficiency 1 Aliases: LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency	KLRK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC2A10 VCAM1	22914 5290 5291 5293 5294 5728 7412 81031	Homo sapiens (human)
DOID:0050746	mantle cell lymphoma	CD74 FASN FCER2 FH FMOD FUT1 HACD1 HPGDS MRC1 MTAP PARP1 PIK3CA PIK3CB PIK3CD PIK3CG SLC35B2 SMUG1	142 2194 2208 2271 2331 23583 2523 27306 347734 4360 4507 5290 5291 5293 5294 9200 972	Homo sapiens (human)
DOID:668	myositis ossificans Aliases: Myisitis ossificans Ossification - muscle	APRT CD14 COMT DPEP1 ENPP2 GPC1 SDC2 SDC4	1312 1800 2817 353 5168 6383 6385 929	Homo sapiens (human)
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	NYX	60506	Homo sapiens (human)
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	ACE ACSS2 CD44 CPT1A CYP19A1 GAPDH GPNMB LGALS3 PARP1 PLA2G1B PLAAT3 PLB1 PTGS2 SELL SFTPA1 SFTPA2 SFTPD	10457 11145 1374 142 151056 1588 1636 2597 3958 5319 55902 5743 6402 6441 653509 729238 960	Homo sapiens (human)

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