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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 **4376 - 4400** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:6581	breast apocrine carcinoma	GGT1	2678	Homo sapiens (human)
DOID:0060708	lymphoproliferative syndrome 2 Aliases: CD27 deficiency LPFS2	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:5715	functionless pituitary adenoma Aliases: Non-Functioning neoplasm of the Pituitary Non-Secretory adenoma of the Pituitary gland	HSD11B1 PIK3CA PIK3CB PIK3CD PIK3CG QTRT1	3290 5290 5291 5293 5294 81890	Homo sapiens (human)
DOID:9848	endolymphatic hydrops Aliases: labyrinthine hydrops	FCGR3B HPGDS MICA NT5E PARP1	100507436 142 2215 27306 4907	Homo sapiens (human)
DOID:4587	benign meningioma Aliases: meningioma, benign	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:231	motor neuron disease	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GAL3ST1 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 SLC35A1 TIGAR TMED9	10462 10559 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9514 9896	Homo sapiens (human)
DOID:0060653	lethal congenital contracture syndrome 3 Aliases: Israeli Bedouin type B multiple contracture syndrome	PIP5K1C	23396	Homo sapiens (human)
DOID:5520	head and neck squamous cell carcinoma Aliases: carcinoma of the head and neck squamous cell carcinoma of the head and neck squamous cell carcinomas of head and neck	ACACA ACACB ACHE ACOT7 ADH1B ADH1C ADH7 AKR1A1 AKR1C1 ALDH2 ALDH3A1 ALG3 ALOX15B ALOX5 ANXA5 APRT ASAH1 BST2 C1GALT1 CALR CANX CAT CBR1 CD33 CD44 CDH13 CEACAM6 CERS1 CERS6 CMAS COMT CSPG4 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP2R1 DHCR24 DLAT ENO1 EXT1 EXTL3 FCGR3B FOLR2 FUT1 FUT4 GALC GALNS GGT1 GLB1 GPAA1 GPD1L GPI GPNMB GPX1 GPX3 GUSB HK2 HPGDS HPSE2 HPSE HSD17B12 HYAL1 IDH2 IDUA IGF2R IL18R1 IL1RAP ISYNA1 JMJD7-PLA2G4B KL LDHA LGALS1 LGALS3 LGALS9 LY6K ME1 MICA MMP17 MRC1 MUTYH NAMPT NANS NCAM1 NEIL1 NEU1 NSDHL NT5E NTNG1 OGG1 PARP1 PDHA1 PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4B PLAUR PLCE1 PNP PRKAA2 PRNP PSMD10 PTEN PTGES PTGIS PTGS1 PTGS2 PYGM REG3G SCD SDC1 SELL SELP SHMT1 SHMT2 SIGLEC1 SIRT4 SIRT6 SLC17A5 SLC2A3 SLC2A4 SMPD1 SMUG1 SOAT1 SPTLC3 SULF1 SULT1E1 TALDO1 THEM4 TKTL1 TPI1 TYMP UGCG UGT1A1 UGT1A6 UGT1A7 UGT2B17 ULBP1	100137049 100507436 1012 10135 10195 10327 10457 10715 10855 11332 117145 120227 125 126 130120 131 1312 142 1464 1543 1544 1545 1555 1557 1559 1571 1573 1645 1718 1737 1890 2023 2131 2137 217 218 2215 22854 23171 23213 23409 2350 23583 240 247 2523 2526 253782 2581 2588 26503 2678 2720 27306 2821 2876 2878 2990 308 3099 31 32 3373 3418 3425 3482 353 3556 3939 3956 3958 3965 4199 427 43 4326 4360 4595 4680 4684 4758 4860 4907 4968 50814 51144 51196 51477 51548 5160 5209 5290 5291 5293 5294 5315 5329 54187 54577 54578 54658 54742 55304 5563 55907 5621 56913 5716 5728 5740 5742 5743 5837 60495 6319 6382 6402 6403 6470 6472 6515 6517 6609 6614 6646 6783 684 6888 7167 7357 7367 79661 80329 811 821 8277 847 8681 873 8733 8809 9365 945 9536 960	Homo sapiens (human)
DOID:0060802	syndromic X-linked intellectual disability Snyder type Aliases: SRS Snyder-Robinson mental retardation syndrome Snyder-Robinson syndrome mental retardation, X-linked, Snyder-Robinson type spermine synthase deficiency	GPI PIK3CA PIK3CB PIK3CD PIK3CG	2821 5290 5291 5293 5294	Homo sapiens (human)
DOID:0110055	amelogenesis imperfecta type 3A Aliases: ADHCAI amelogenesis imperfecta hypomineralization type amelogenesis imperfecta type III autosomal dominant amelogenesis imperfecta hypocalcification type	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:4183	pseudopseudohypoparathyroidism Aliases: Normocalcemic pseudohypoparathyroidism	APRT ASAH1 GPC1	2817 353 427	Homo sapiens (human)
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	CHI3L1 TNF	1116 7124	Homo sapiens (human)
DOID:0110948	Waardenburg syndrome type 1 Aliases: WS1 Waardenburg syndrome type I	ABO ALPP	250 28	Homo sapiens (human)
DOID:0070257	congenital disorder of glycosylation type IIe Aliases: CDG IIe CDG syndrome type IIe CDG2E CDGIIde COG7-CDG Carbohydrate deficient glycoprotein syndrome type IIe	COG7	91949	Homo sapiens (human)
DOID:775	intraocular lymphoma Aliases: primary intraocular lymphoma	CAT	847	Homo sapiens (human)
DOID:11615	penile cancer Aliases: Ca penis Penile Ca malignant Penile tumor malignant neoplasm of body of penis penile neoplasm	PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	23583 5290 5291 5293 5294	Homo sapiens (human)
DOID:0060160	childhood spinal muscular atrophy Aliases: spinal muscular atrophies of childhood survival motor neuron spinal muscular atrophy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)
DOID:9682	yellow fever Aliases: Sylvatic yellow fever Yellow fever, sylvan jungle yellow fever urban yellow fever	ABO ACHE AGPAT1 AMACR ANXA5 APRT BST2 CAT CD14 CD209 CD33 CD38 CERS1 CHST10 CLEC5A CSPG5 DDOST FASN FCGR3B G6PD GAPDH GOLPH3 HPSE2 HPSE HSD17B6 ICAM1 IL1RL1 KLRC1 LGALS9 MBL2 MGAM MICA MOGS MRC1 NAAA PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PRKAA2 PRNP PTGS2 SCD SELE SI SIRT6 SLC17A5 SMUG1 SOAT1 SPHK1 SPHK2 STT3B TM7SF2 TPI1 VCAM1	100507436 10554 10675 10715 10855 1650 201595 2194 2215 23583 23600 23601 2539 2597 26503 27163 28 308 30835 3383 353 3821 3965 4153 43 4360 51196 51548 5290 5291 5293 5294 5563 5621 56848 5743 60495 6319 6401 64083 6476 6646 684 7108 7167 7412 7841 847 8630 8877 8972 9173 929 945 9486 952	Homo sapiens (human)
DOID:10548	cardia cancer Aliases: Ca cardia - stomach malignant neoplasm of cardia of stomach	CD44 SPHK1 UGT2B7	7364 8877 960	Homo sapiens (human)
DOID:2468	psychotic disorder Aliases: mental or behavioural disorder	ABO ACADS ACE ACHE ACOT7 ACSL4 ACSL6 ACSS2 ADH1B ALDH2 ALDH5A1 ALDH7A1 ALG9 ARSA ARSB ARSD B3GAT1 CACNA2D4 CALR CD22 CDH13 CHAT CHI3L1 CHPT1 CNTN4 COMT CYP27B1 CYP2B6 CYP2C19 CYP3A5 DEGS1 DEGS2 DGKH DHDDS EPM2A EXT1 G6PD GAD1 GAD2 GALNS GLUL HPGDS HSD11B1 HSD17B12 HSPG2 ICAM1 IDH1 IDUA INPP5K ISYNA1 LGALS3 MACROD2 MAG MANEA ME2 MGAT1 MICA NCAM1 NPL PAFAH1B1 PI4K2B PI4KA PIGL PIK3C2A PIP4K2A PLA2G15 PLA2G1B PLA2G4A PPT1 PRNP PTEN PTGDS PTGS2 RGMA RTN4R SDC2 SLC27A5 SMPD1 SMUG1 SPTLC1 SRGN ST3GAL1 ST8SIA2 TMTC1 VCAM1	100507436 1012 10558 10998 1103 1116 11332 123099 125 1312 140733 152330 1555 1557 1577 1594 160851 1636 2131 217 2182 23305 23583 23659 2539 2571 2572 2588 27087 27306 2752 28 3290 3339 3383 3417 3425 35 3958 4099 410 411 414 4200 4245 43 4684 501 5048 51144 51477 51763 5286 5297 5305 5319 5321 55300 5538 5552 55902 5621 56963 56994 5728 5730 5743 6383 6482 65078 6609 7412 7915 7957 79694 79796 79947 80896 811 8128 83857 8560 933 93589 9487	Homo sapiens (human)
DOID:0110107	atrial heart septal defect 2 Aliases: ASD2 atrial septal defect 2	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:12365	malaria Aliases: induced malaria	ABO ACACA ACE ACHE ACOT7 ADH1B AKR1A1 ALOX5 ANXA4 ANXA7 B3GAT1 CAT CD14 CD1D CD55 CDH13 CEL CERS1 CFC1 CHI3L1 CHIT1 CS CYP1A2 CYP2B6 CYP2C19 CYP2C8 CYP3A4 ENO2 ENOSF1 FCGR3B FCN2 FUT9 G6PD GAPDH GLO1 GOLPH3 GPX1 H6PD HK1 HPGDS HPRT1 HPSE HSD11B1 ICAM1 IL18R1 IL1R1 ISYNA1 LMAN1 MASP2 MBL2 MCAT MOGS MPPE1 NANP PGAM1 PGD PGLS PGM1 PKLR PNP POFUT2 POMGNT2 PSAP PTGS2 SDC1 SELE SPHK1 TMED9 TNF UMPS VNN1 VNN2	1012 10327 1056 10690 10715 10747 10855 1116 1118 11332 125 140838 1431 1544 1555 1557 1558 1576 1604 1636 2026 2215 2220 23275 240 2539 25796 2597 27087 27306 27349 2739 28 2876 307 3098 31 310 3251 3290 3383 3554 3998 4153 43 4860 51477 5223 5226 5236 5313 54732 55556 55997 5660 5743 6382 6401 64083 65258 7124 7372 7841 847 84892 8809 8875 8876 8877 912 929 9563	Homo sapiens (human)
DOID:0110056	amelogenesis imperfecta type 1C Aliases: AI1C amelogenesis imperfecta type IC autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive amelogenesis imperfecta local hypoplastic type	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:0110345	osteogenesis imperfecta type 16 Aliases: OI16 chromosome 11p11.2 deletion syndrome 91.3-KB osteogenesis imperfecta type XVI	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110057	amelogenesis imperfecta type 2A1 Aliases: AI2A1 amelogenesis imperfecta pigmented hypomaturation type 1 amelogenesis imperfecta type IIA1	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)

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