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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 **4151 - 4175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:9574	choanal atresia Aliases: Atresia of nares Imperforate nares posterior choanal atresia	ALDH1A3 COMT DHCR7 GAS1 PTDSS1 SMC3	1312 1717 220 2619 9126 9791	Homo sapiens (human)	DisGeNET
DOID:5381	bile duct adenoma Aliases: Cholangioadenoma	BRAF NCAM1	4684 673	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	AGA ARSA B3GAT1 CD14 CEACAM5 CEACAM7 CLEC16A DLAT FUT2 FUT3 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A KLRK1 LSS MANBA MGLL MICA NCAM1 NEIL1 PIK3CD PLA2G10 PLA2G2A PLA2G2D PNPLA3 PTGES PTGS2 SDC1 SLC17A5 SMUG1 STS TNF	100507436 1048 1087 11343 1737 175 22914 23274 23583 2524 2525 26279 26503 27087 3383 3554 3632 4047 410 412 4126 4684 5293 5320 5743 6382 64090 7124 79661 80339 8399 8809 929 9536	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:14268	sclerosing cholangitis Aliases: fibrosing cholangitis	AGA ARSA B3GAT1 CD14 CEACAM5 CEACAM7 CLEC16A DLAT FUT2 FUT3 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A KLRK1 LSS MANBA MGLL MICA NCAM1 NEIL1 PIK3CD PLA2G10 PLA2G2A PLA2G2D PNPLA3 PTGES PTGS2 SDC1 SLC17A5 SMUG1 STS	100507436 1048 1087 11343 1737 175 22914 23274 23583 2524 2525 26279 26503 27087 3383 3554 3632 4047 410 412 4126 4684 5293 5320 5743 6382 64090 79661 80339 8399 8809 929 9536	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:9446	cholangitis	CLEC16A FUT2 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A MANBA MGLL PLA2G10 PLA2G2A PLA2G2D SMUG1 STS	11343 23274 23583 2524 26279 3383 3554 3632 412 4126 5320 64090 8399 8809	Homo sapiens (human)	DisGeNET DisGeNET
DOID:14269	suppurative cholangitis	CLEC16A FUT2 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A MANBA MGLL PLA2G10 PLA2G2A PLA2G2D SMUG1 STS	11343 23274 23583 2524 26279 3383 3554 3632 412 4126 5320 64090 8399 8809	Homo sapiens (human)	DisGeNET DisGeNET
DOID:14270	ascending cholangitis	CLEC16A FUT2 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A MANBA MGLL PLA2G10 PLA2G2A PLA2G2D SMUG1 STS	11343 23274 23583 2524 26279 3383 3554 3632 412 4126 5320 64090 8399 8809	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12236	primary biliary cholangitis Aliases: biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis	ABO ACE ALPP ATRNL1 B3GAT1 CD14 CD1D CD74 CLEC16A CNTN5 COG6 CYP21A2 CYP3A4 CYP7A1 DAG1 DBT DGCR2 DGKQ DLAT DLST FH GGT1 GLB1 HK1 HPGDS ICAM1 IL18R1 ITLN1 L1CAM LEP LEPR LGALS3 MANBA MBL2 OGDH PDHX PIK3CA PLCB1 PNPLA3 POGLUT1 PPARGC1A PTGS2 SOAT1 TNF UGT2B4 VCAM1 VTCN1	10891 1576 1581 1589 1605 1609 1629 1636 1737 1743 2271 23236 23274 250 26033 2678 27087 2720 27306 28 3098 3383 3897 3952 3953 3958 4126 4153 4967 5290 53942 55600 56983 5743 57511 6646 7124 7363 7412 79679 80339 8050 8809 912 929 972 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1949	cholecystitis Aliases: acute and chronic cholecystitis acute cholecystitis acute on chronic cholecystitis chronic cholecystitis	AGA ALDOA ARSA BPGM GGT1 GPI HK1 PKLR PNPLA2 PSAP TPI1	175 226 2678 2821 3098 410 5313 5660 57104 669 7167	Homo sapiens (human)	DisGeNET
DOID:899	choledochal cyst Aliases: Congenital choledochal cyst bile duct cyst biliary cyst	CD14 SMUG1	23583 929	Homo sapiens (human)	DisGeNET
DOID:10211	cholelithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:11151	cholecystolithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11755	choledocholithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:1498	cholera Aliases: Cholera - Vibrio cholerae Cholera due to Vibrio cholerae Vibrio cholerae	ABO ACE ADPRH ALDH7A1 ANXA5 APRT ART5 CD44 CD55 CTBS CYP11A1 CYP19A1 CYP27A1 CYP2B6 ENO1 GLB1 GOLPH3 HSD17B1 ICAM1 NAGLU NT5E PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PRG2 PRSS8 PTEN SLC5A1 STS TM7SF2 XYLT2	116969 141 1486 1555 1583 1588 1593 1604 1636 2023 2720 28 308 3292 3383 353 412 4669 4907 501 5290 5291 5293 5294 5553 5652 5728 64083 64132 6523 7108 9468 960	Homo sapiens (human)	DisGeNET
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	ACE ADH1A ADH5 AKR1D1 ALDH1B1 ALG8 ALPP AMACR ATRNL1 BAAT CAT CD14 CD44 CHIT1 COG6 CYP17A1 CYP1A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP3A4 CYP3A5 CYP7A1 CYP7B1 CYP8B1 DCN DGAT2 DLAT ERLEC1 FH G6PD GGT1 HADHA HADHB HAO2 HJV HOGA1 HSD17B4 HSD3B7 ICAM1 LIPA LYZ MBOAT1 NPL PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PRKAA1 PRKAA2 PTGDS PYGM SLC17A5 SULT1E1 SULT2B1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B4 VCAM1	1118 112817 124 128 148738 154141 1544 1555 1557 1559 1576 1577 1581 1582 1586 1593 1634 1636 1737 219 2271 23600 250 2539 26033 26503 2678 27248 3030 3032 3295 3383 3988 4069 51179 5290 5291 5293 5294 5319 5320 54575 54576 54577 54578 54657 54658 54659 5562 5563 570 5730 57511 5837 6718 6783 6820 7363 7412 79053 80270 80896 8398 84649 847 929 9420 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	AKR1D1 AMACR CHST3 CYP7B1 GGT1 GPD2 HSD3B7 MTM1 SC5D SLC25A12 SLC25A13	10165 23600 2678 2820 4534 6309 6718 80270 8604 9420 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:869	cholesteatoma	CLEC10A CLEC12B CLEC5A CLEC6A CLEC7A LY75 MGLL MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTGS2 STS TLR2 TLR4	10462 11343 23601 387837 4065 412 4360 5290 5291 5293 5294 5716 5743 64581 7097 7099 93978	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:7439	polyp of middle ear Aliases: polyp - middle ear polyp of the middle ear	CLEC10A CLEC12B CLEC5A CLEC6A CLEC7A LY75 MGLL MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTGS2 STS	10462 11343 23601 387837 4065 412 4360 5290 5291 5293 5294 5716 5743 64581 93978	Homo sapiens (human)	DisGeNET
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	LIPA	3988	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8456	choline deficiency disease Aliases: choline deficiency	MLYCD PEMT	10400 23417	Homo sapiens (human)	DisGeNET
DOID:2649	chondroblastoma Aliases: Chondroblastoma of bone	ACAN EXT1 IDH2 PTGS2	176 2131 3418 5743	Homo sapiens (human)	DisGeNET
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	AGPS ARSH DHCR24 EBP FDFT1 GNPAT NSDHL STS SUMF1	10682 1718 2222 285362 347527 412 50814 8443 8540	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2581	chondrodysplasia punctata Aliases: Chondrodysplasia punctata congenita	AGPS ARSB ARSH B3GALT6 COL9A2 DHCR24 EBP EXTL3 FDFT1 GNPAT GUSB MSMO1 NEU1 NSDHL SLC26A2 STS SUMF1 TMEM165 XYLT1	10682 126792 1298 1718 1836 2137 2222 285362 2990 347527 411 412 4758 50814 55858 6307 64131 8443 8540	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110851	rhizomelic chondrodysplasia punctata type 1 Aliases: Pbd9 Peroxisome Biogenesis Disorder 9 Rcdp1	AGPS ARSH DHCR24 EBP FAR1 GNPAT HSD17B4 NSDHL STS SUMF1	10682 1718 285362 3295 347527 412 50814 84188 8443 8540	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110853	rhizomelic chondrodysplasia punctata type 3 Aliases: Agps Deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency Alkylglycerone-Phosphate Synthase Deficiency Rcdp3	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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