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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 **5301 - 5325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:12995	conduct disorder	ALDH2 ARSD BST2 COMT DGKK EFNA5 EXT1 G6PD GLDC	1312 139189 1946 2131 217 2539 2731 414 684	Homo sapiens (human)
DOID:0050857	Perrault syndrome	HSD17B4	3295	Homo sapiens (human)
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	ACE AKR1A1 AKR1B10 ALDH1A3 ALDOA ALOX15 ALOX5 ALPI ALPP ANXA4 ANXA5 APRT ARSA BRAF CALR CAT CBR1 CD14 CD44 CD55 CEACAM5 CEACAM6 CEACAM7 CRYL1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 CYP7A1 ENO1 FBP1 FCGR3B FUT1 FUT2 FUT3 GALNS GGT1 GLUL GNE GPC1 GPC3 H6PD HK2 HPSE HSPG2 ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 ME1 MRC1 MSLN MUTYH NCAM1 NEIL1 NEU1 NT5E OGG1 OPCML PARP1 PCYT1A PDHA1 PFKP PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G4A PSMD10 PTEN PTGES PTGS2 RECK SDC1 SDC2 SGMS1 SHMT2 SIRT2 SMUG1 SPHK1 SPHK2 STS UGDH UGT1A10 UGT2B11 UMPS VTCN1	10020 10232 10327 1048 10720 10855 1087 142 1543 1544 1581 1586 1588 1591 1594 1604 1636 2023 220 2203 2215 226 22914 22933 23583 240 246 248 250 2523 2524 2525 2588 259230 2678 2719 2752 2817 307 308 3099 3339 3383 3417 3418 3482 353 3897 3939 3956 3958 3965 410 412 4199 4360 4595 4680 4684 4758 4907 4968 4978 51084 5130 5160 5214 5290 5291 5293 5294 5311 5315 5321 54575 56848 57016 5716 5728 5743 6382 6383 6472 673 7358 7372 79661 79679 811 8434 847 873 8877 929 9536 9563 960	Homo sapiens (human)
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	pomgnt1.L pomgnt1.S	414570 495292	Xenopus laevis (African clawed frog)
DOID:3493	signet ring cell adenocarcinoma Aliases: Signet ring carcinoma Signet ring cell carcinoma	GALNT14 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PTEN TFF1	4684 5290 5291 5293 5294 5319 5320 5728 7031 79623 8398	Homo sapiens (human)
DOID:7147	ankylosing spondylitis Aliases: Bekhterev syndrome Bekhterev's disease Marie-Strumpell disease	Adipoq Pgf Tlr4	11450 18654 21898	Mus musculus (house mouse)
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	ALG2	85365	Homo sapiens (human)
DOID:3904	bronchus carcinoma Aliases: BC - Bronchogenic carcinoma	ABO ACACA ACAT1 ACE ACLY ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACYP2 ADH1B ADH1C ADH5 AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C3 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALOX12B ALOX15 ALOX15B ALPI ALPP AMACR ANXA4 ANXA5 APRT ARSA ASAH1 ATP6AP2 ATRNL1 B3GAT1 B3GNTL1 B4GALT1 BPHL BST1 CACNA2D2 CALR CANX CAT CBR1 CD109 CD14 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS6 CHAT CHI3L1 CHKA CHKB CHODL CHPT1 CHST7 CNTN1 COMT CRLS1 CRYBG3 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP3A7-CYP3A51P CYP3A7 CYP4F3 DCN DDOST DGKH DHCR24 DHDDS DHDH DLD EBP EFNA1 ELOVL6 ENO1 ENO2 ENO3 ENPP1 ENPP2 EPHX2 ERLEC1 EXTL3 FASN FBP1 FCN2 FDFT1 FOLR1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT3 FUT4 FUT5 FUT7 FUT8 FUT9 G6PD GAD1 GALC GALK2 GALNS GALNT3 GAPDH GBE1 GCK GCNT1 GGT1 GLB1 GLCE GLDC GOLPH3 GPC3 GPC5 GPI GPX1 GPX2 GPX3 GUSB HADHA HAS2 HK1 HK2 HKDC1 HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B1 HSD17B6 HSPG2 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IGF2R IL18R1 IL1RL1 IMPA1 INPP4B INPP5D ISYNA1 ITPKA ITPKB KL KLRB1 KLRK1 L1CAM LAYN LDHA LDHB LGALS1 LGALS3 LGALS8 LGALS9 LPCAT1 LPIN1 LPL LY6K LYNX1 LYPD5 MBD4 MBL2 MCAT ME1 MGLL MICA MMUT MOGS MPG MRC1 MSLN MTAP MTMR3 MUTYH NCAM1 NEIL2 NEU1 NT5E NTHL1 OGA OGG1 PAFAH1B1 PARG PARP1 PCK2 PCYT1A PFKFB3 PGD PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCD1 PLCE1 PLCG1 PLCH1 PLOD3 PLPP4 PLPP5 PNPLA2 POFUT1 PRG2 PRKAA2 PRNP PTEN PTGES PTGIS PTGS1 PTGS2 QTRT1 RECK REG1B REG3G RENBP RGN RPN2 SCD SDC1 SDC2 SDHC SELE SELP SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT1 SHMT2 SIRT2 SIRT4 SIRT6 SLC2A10 SLC2A3 SLC33A1 SMC3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE SRGN ST6GAL1 ST8SIA4 STS SULF1 SULF2 SULT1E1 SYNJ2 THEM4 TIGAR TM7SF2 TNKS2 TNKS TPI1 TPST1 TREH TUSC3 TYMP UGDH UGT1A1 UGT1A6 UGT1A7 UGT2B17 UGT8 ULBP1 UMPS UNG VCAM1 VCAN VTCN1 XXYLT1 YDJC	100507436 100861540 1012 10159 10232 10327 1048 10682 10690 10724 10855 1087 1103 1116 11181 1119 1120 11332 11343 117145 125 126 1272 128 130120 1312 131544 135228 140578 142 143903 1462 146712 150223 151056 152002 1543 1544 1545 1551 1555 1557 1559 1571 1576 1577 1586 1588 1589 1591 1593 1594 1604 160851 1634 1636 1645 1650 170384 1718 1738 1890 1942 196051 2023 2026 2027 2053 2137 217 218 2180 2181 2182 2194 220 2203 2220 2222 226 2262 22914 22933 23007 231 23175 23205 23213 23409 2348 2350 23509 23583 23600 242 246 247 248 250 2523 2524 2525 2526 2527 2529 252969 2530 253782 2539 2571 2581 2585 2588 2591 259230 2597 26033 26035 2632 2645 2650 2678 2683 27087 2719 2720 27248 27294 27306 2731 27349 28 2821 284348 2876 2877 2878 2990 3030 3037 307 308 3098 3099 31 3251 3291 3292 3339 3383 3384 3417 3418 3482 353 3612 3635 3706 3707 38 3820 3897 3939 3945 3956 3958 3964 3965 4023 4051 410 412 4153 4199 427 4350 4360 4507 4594 4595 4680 4684 47 4758 4907 4913 4968 501 5048 5106 51196 5130 51477 51548 5167 5168 5209 5226 5230 5290 5291 5293 5294 5310 5315 5319 5320 5321 5329 5333 5335 54577 54578 54658 54675 54742 5552 5553 5563 55959 56052 5621 56548 56848 56994 57016 57103 57104 5728 5740 5742 5743 5968 5973 6185 6319 6382 6383 6391 6401 6403 64083 6440 6441 6470 6472 6480 6515 653509 66004 6646 670 6713 6783 683 7108 7167 729238 7358 7367 7368 7372 7374 7412 7841 7903 79071 79679 79888 7991 79947 80201 80329 80351 81031 811 81890 821 8398 8399 8434 84513 8460 847 84750 8505 8630 8644 8658 8692 873 8809 8821 8871 8877 8897 8930 8985 9104 912 9126 9173 9197 9254 929 933 9365 945 952 9536 960 972 98 9956	Homo sapiens (human)
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	Alg1	360475	Rattus norvegicus (Norway rat)
DOID:11162	respiratory failure Aliases: acute and chronic respiratory failure acute respiratory Failure acute-on-chronic respiratory failure chronic respiratory failure respiratory insufficiency/failure	ABO CYP1A1 IDH1 MBL2 PARP1 PIK3C3 PTEN SFTPA2 SFTPD SLC2A10	142 1543 28 3417 4153 5289 5728 6441 729238 81031	Homo sapiens (human)
DOID:10762	portal hypertension	ACE ALOX5 CALR EOGT GBE1 INPP5E ISYNA1 LGALS3 LGALS9 NAAA NR1D1 PIGM PNPLA3 PTEN PTGS1 PTGS2 TM7SF2 TNF	1636 240 2632 27163 285203 3958 3965 51477 56623 5728 5742 5743 7108 7124 80339 811 93183 9572	Homo sapiens (human)
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	b4galt1.1 b4galt1.2	100145518 549418	Xenopus tropicalis (tropical clawed frog)
DOID:1935	Bardet-Biedl syndrome	INPP5E PIGX PNPLA6	10908 54965 56623	Homo sapiens (human)
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	Chst3	84468	Rattus norvegicus (Norway rat)
DOID:3525	middle cerebral artery infarction	gpd-1 gpd-3 gpd-4 parp-1 upp-1	174578 174603 176077 180601 266823	Caenorhabditis elegans
DOID:3876	colonic pseudo-obstruction Aliases: primary chronic pseudo-obstruction of colon	ACHE	43	Homo sapiens (human)
DOID:8455	pyridoxine deficiency anemia Aliases: vitamin B6 deficiency syndrome	PIGV	55650	Homo sapiens (human)
DOID:0050788	proximal symphalangism Aliases: Cushing's symphalangism	HSPG2 SDC2	3339 6383	Homo sapiens (human)
DOID:0060108	brain glioma Aliases: lower grade glioma	TDH1 TDH2 TDH3	853106 853395 853465	Saccharomyces cerevisiae S288C
DOID:552	pneumonia Aliases: acute pneumonia	ABO ACADVL ACE ACSS2 AKR1B1 ALDH7A1 ALOX12 ALOX5 ANXA5 APRT ARSA ASAH1 BAAT BST1 CALR CAT CD14 CD248 CD44 CD55 CD74 CEACAM5 CEL CEMIP CHI3L1 CHST7 CLEC1B CLEC6A CLEC7A CLEC9A COLEC11 CRPPA CTSA CYP1A1 CYP1A2 CYP2B6 CYP2E1 DEGS1 EPHX2 FCGR3B FCN2 FDPS FUT2 GLA GPX1 HACD1 HPGDS HSD11B1 ICAM1 IGF2R IL1R1 ISYNA1 ITLN1 KLRB1 LCLAT1 LCT LGALS3 LGALS9 MASP2 MBL2 MCEE MICA MPPE1 MRC1 NAAA NAMPT PARP1 PARP9 PIGW PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G5 PLA2G6 PLD1 PLD2 PNP PTGDS PTGES PTGS1 PTGS2 REG3G RENBP SDC1 SDC2 SDC4 SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SIGLEC8 SLC17A5 SLC27A5 SLC2A10 SLC35A1 SLC5A1 SMC3 SMPD1 SMPD2 SMUG1 SPHK2 ST8SIA4 STS SULF1 TM7SF2 UGCG VCAM1 VCAN	100507436 10135 1048 10559 1056 10747 10998 1116 130120 142 1462 1543 1544 1555 1571 1604 1636 200576 2053 2215 2220 2224 231 23213 23583 23659 239 240 2524 253558 26503 27163 2717 27181 27306 28 283420 284098 2876 308 3290 3383 3482 353 3554 37 3820 3938 3958 3965 410 412 4153 427 4360 4860 501 51266 51477 5290 5291 5293 5294 5310 5319 5320 5321 5322 5337 5338 5476 55600 55902 56548 56848 570 57124 57214 5730 5742 5743 5973 6382 6383 6385 6402 6403 6440 6441 64581 6523 65258 653509 6609 6610 683 7108 729238 729920 7357 7412 78989 7903 81031 811 83666 8398 84693 847 8482 8560 8879 9126 9200 929 93978 9536 960 972	Homo sapiens (human)
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	Pigb	315807	Rattus norvegicus (Norway rat)
DOID:0060642	recessive dystrophic epidermolysis bullosa Aliases: RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type	CAT CD44 DCN PIK3CA PIK3CB PIK3CD PIK3CG STS	1634 412 5290 5291 5293 5294 847 960	Homo sapiens (human)
DOID:0112237	lissencephaly 1 Aliases: LIS1 PAFAH1B1-related lissencephaly	PAFAH1B1	5048	Homo sapiens (human)
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	ndst1a ndst1b	100329944 570459	Danio rerio (zebrafish)
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	Bad Enpp1 Errfi1 Igf2 Ins1 Ins2 Lep Pik3r1	24483 24505 24506 25513 25608 313729 64639 85496	Rattus norvegicus (Norway rat)

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