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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 **5726 - 5750** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:974	upper respiratory tract disease	ACHE	43	Homo sapiens (human)
DOID:11328	schizophreniform disorder	ACADS ACHE ACOT7 ACSL6 ADH1B AGA ALDH2 ALDH5A1 ALG9 ARSA ARSB B3GAT1 CALR CHI3L1 CHPT1 COMT CYP27B1 CYP2B6 DHDDS EPM2A G6PD GAD1 GAD2 GLUL HPGDS LGALS3 ME2 MGAT1 NPL PAFAH1B1 PIK3C2A PLA2G1B PLA2G4A PLCB4 PPT1 PRNP RPN2 RTN4R SLC27A5 SMUG1 SPTLC1 ST3GAL1 UXS1 VCAM1	10558 10998 1116 11332 125 1312 1555 1594 175 217 23305 23583 2539 2571 2572 27087 27306 2752 35 3958 410 411 4200 4245 43 5048 5286 5319 5321 5332 5538 5621 56994 6185 6482 65078 7412 7915 7957 79796 79947 80146 80896 811	Homo sapiens (human)
DOID:2215	factor VII deficiency Aliases: deficiency, stable	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:0050581	brachydactyly	MGAM MGAT3 PARP1 SI SLC26A2	142 1836 4248 6476 8972	Homo sapiens (human)
DOID:3818	photoallergic dermatitis Aliases: Photoallergic contact dermatitis Photoallergic eczema	AGPS	8540	Homo sapiens (human)
DOID:0080548	Noonan syndrome with multiple lentigines 1 Aliases: LEOPARD syndrome 1	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:3341	osteitis fibrosa Aliases: Osteitis fibrosa cystica generalisata Von Recklinghausen's bone disease hyperparathyroid bone disease	ACE G6PD KL OCRL PLCB3 PTGS2 SDHB SMUG1	1636 23583 2539 4952 5331 5743 6390 9365	Homo sapiens (human)
DOID:4661	multiple chemical sensitivity Aliases: 20th century disease chemical AIDS environmental illness idiopathic environmental illness total allergy syndrome	CYP2C19	1557	Homo sapiens (human)
DOID:5890	malignant adult ependymoma	PTEN	5728	Homo sapiens (human)
DOID:3347	osteosarcoma Aliases: Osteogenic sarcoma Skeletal sarcoma bone tissue neoplasm osteoid sarcoma	ACLY ACYP2 AGPAT2 AKR1A1 AKR1C1 ALDH1B1 ALDOA ALOX5 ALPI ALPL ALPP ANXA5 APRT ATRNL1 BPHL CALR CANX CAT CBR3 CD109 CD14 CD248 CD38 CD44 CD74 CEACAM6 CHI3L1 CHPT1 CHST2 CLEC5A CNTN2 COL9A2 COLGALT1 COLGALT2 CSPG4 CYP19A1 CYP27B1 CYP2B6 CYP3A4 DCN DDOST DGKZ DHDDS DPEP1 EFNA1 EXT1 EXT2 FADS1 FASN FBP1 FCN2 FDPS FOLR1 FOLR2 FUT3 GAPDH GAS1 GFRA1 GLDC GLUL GPI GPNMB HACD1 HAS2 HAS3 HK2 HPGDS HPSE HSD11B1 HSD11B2 ICAM1 IDH1 IDH2 IGF2R IL18R1 IL1R1 INPP4B KLRK1 L1CAM LDHA LGALS1 LGALS3 LPL LSS LYPD5 MCAT MELTF MGLL MICA MMUT MTAP NANS NEU1 OLR1 PAFAH1B1 PARG PARP1 PCK2 PCYT1A PFKFB2 PFKFB3 PGAM1 PGAP2 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G4A PLAAT3 PLAUR PLCG1 PLCG2 PLD1 PNPLA2 PRKAA2 PRNP PSMD10 PTEN PTGES3 PTGS2 RECK RENBP SDC1 SDC2 SDC4 SDHA SDHC SGMS2 SIRT6 SLC2A4 SMC3 SMPD2 SMUG1 SOAT1 SPHK1 SPHK2 STS SULT1E1 TNKS2 TNKS TP53 TUSC3 ULBP1 ULBP2 VCAM1 VCAN VNN2 VTCN1	100507436 10327 10457 10555 10728 10855 11145 1116 11343 1298 135228 142 1462 1464 1555 1576 1588 1594 1634 1645 1650 166929 1800 1942 2131 2132 219 2194 2203 2220 2224 226 22914 23127 2348 2350 23583 23601 240 248 249 250 2525 2597 26033 2619 2674 27306 2731 27315 27349 2752 2821 284348 3037 3038 308 3099 3290 3291 3383 3417 3418 3482 353 3554 3897 3939 3956 3958 3992 4023 4047 412 4241 4507 4594 4680 47 4758 4973 5048 5106 5130 51548 5208 5209 5223 5281 5290 5291 5293 5294 5310 5315 5321 5329 5335 5336 5337 54187 5563 5621 56848 56994 57104 57124 5716 5728 5743 5973 6382 6383 6385 6389 6391 6517 6610 6646 670 6783 6900 7157 7412 79679 79709 7991 79947 80328 80329 80351 811 821 8434 847 8505 8525 8658 874 8809 8821 8875 8877 9126 9200 929 9435 952 960 972 98	Homo sapiens (human)
DOID:8200	tertiary syphilis Aliases: late syphilis	SMUG1	23583	Homo sapiens (human)
DOID:1664	pineoblastoma Aliases: Pineal PNET	CHGA ENO2	1113 2026	Homo sapiens (human)
DOID:3030	mucinous adenocarcinoma Aliases: Mucin-Secreting adenocarcinoma Mucin-Secreting carcinoma Mucous carcinoma Pseudomyxoma peritonei with unknown primary site mucin-producing adenocarcinoma	CD44 CD74 CEACAM5 CEACAM7 GOLPH3 GPC3 HPSE LGALS3 MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 TKTL1	1048 10855 1087 23583 2719 3958 4360 5290 5291 5293 5294 5728 64083 8277 960 972	Homo sapiens (human)
DOID:12799	mucopolysaccharidosis II Aliases: Hunter syndrome Hunter's syndrome MPS II - Hunter syndrome Mucopolysaccharidosis, MPS-II deficiency of iduronate-2-sulphatase	ACAN AGA APRT ARSA ARSB ARSG ARSH CANX CAT CD1D CD38 CTSA DPEP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1	10020 10724 138050 159371 175 176 1800 1836 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 5476 6448 6677 79158 821 84572 847 8692 912 952	Homo sapiens (human)
DOID:2449	acromegaly	ACE ALPP ATRNL1 CALR CYP11B2 DGCR2 HSD11B1 KL LGALS3 LPL NAMPT RENBP	10135 1585 1636 250 26033 3290 3958 4023 5973 811 9365 9993	Homo sapiens (human)
DOID:0080488	mucolipidosis	GNPTAB NEU1	4758 79158	Homo sapiens (human)
DOID:0060563	Char syndrome	TFAP2B	7021	Homo sapiens (human)
DOID:0110846	xeroderma pigmentosum group E Aliases: XP group E XP5 XPE xeroderma pigmentosum V	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:0070395	developmental and epileptic encephalopathy 110 Aliases: DEE110 early infantile epileptic encephalopathy 110	CACNA2D1	781	Homo sapiens (human)
DOID:5709	mixed-type liposarcoma	EBP PIK3CA PIK3CB PIK3CD PIK3CG	10682 5290 5291 5293 5294	Homo sapiens (human)
DOID:4621	holoprosencephaly Aliases: Holoprosencephaly sequence	B3GALNT2 CAT COMT CYP2E1 FIG4 FKRP FKTN GAS1 GMPPB L1CAM LARGE1 LSS MOGS PGAP1 PIGN PLCH1 POMGNT1 POMT1 POMT2	10585 1312 148789 1571 2218 23007 23556 2619 29925 29954 3897 4047 55624 7841 79147 80055 847 9215 9896	Homo sapiens (human)
DOID:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1	23583 2719 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:10609	rickets Aliases: active rickets	ACE ALPL APRT BAAT CEACAM5 CEACAM7 CTNS CYP24A1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 CYP7A1 DHCR7 EHHADH ENPP1 GALC GGT1 HSD11B2 HSD3B7 KL L1CAM MCAT OCRL PHOSPHO1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 RGN SCD SFTPA1 SLC17A5 SLC2A2 TALDO1	1048 1087 120227 1497 1576 1581 1591 1593 1594 162466 1636 1717 1962 249 2581 26503 2678 27349 3291 353 3897 4952 5167 5290 5291 5293 5294 570 5743 6319 6514 653509 6888 80270 9104 9365	Homo sapiens (human)
DOID:4830	adenosquamous carcinoma Aliases: Adenosquamous cell carcinoma mixed adenocarcinoma and squamous carcinoma	CALR CLEC10A MGLL PGK1 PIK3CA PTEN SIGLEC7	10462 11343 27036 5230 5290 5728 811	Homo sapiens (human)
DOID:0110152	Charcot-Marie-Tooth disease type 1B Aliases: CMT1B Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy Charcot-Marie-Tooth neuropathy type 1B HMSN IB HMSN1B autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B hereditary motor and sensory neuropathy IB peroneal muscular atrophy	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)

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