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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3826 - 3850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	CALR FUT2 GPX3	2524 2878 811	Homo sapiens (human)
DOID:2957	pulmonary tuberculosis	ACACA ACE ACOT7 ADIPOQ AKT1 ALOX5 ATF3 CD14 CD1D CD209 CD44 CDH13 CEL CLEC4E CYP2E1 ENO2 FCGR3B FCN2 GBE1 GUSB HSD11B1 ICAM1 IL1R1 LTA4H LYZ MASP1 MBL2 MRC1 NTM PARP9 PLAUR SELE SELL SFTPA1 SFTPA2 SIGLEC1 SLC27A5 SLC39A8 SMUG1 SOAT1 TLR1 TLR2 TLR4 TM7SF2 TNF	1012 1056 10998 11332 1571 1636 2026 207 2215 2220 23583 240 26253 2632 2990 30835 31 3290 3383 3554 4048 4069 4153 4360 467 50863 5329 5648 6401 6402 64116 653509 6614 6646 7096 7097 7099 7108 7124 729238 83666 912 929 9370 960	Homo sapiens (human)
DOID:0110736	neurodegeneration with brain iron accumulation 2b Aliases: NBIA2b Neuroaxonal Dystrophy, Atypical Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related	AKR1B10 PLA2G1B PLA2G6 PLB1	151056 5319 57016 8398	Homo sapiens (human)
DOID:12842	Guillain-Barre syndrome Aliases: Infectious neuronitis Post-infectious polyneuritis Postinfectious polyneuritis acute infective polyneuritis acute inflammatory demyelinating polyradiculopathy acute postinfectious polyneuropathy	CNTN1 CNTN2 CSGALNACT1 ENO2 FCGR3B GALE GBE1 GLO1 HPRT1 ICAM1 ISYNA1 MAG MBL2 MRC1 PKD1 PLA2G1B PLB1 PTGDS PTGS1 PTGS2 SIGLEC7 SIGLEC9 SMPD2 SMPD3 ST6GALNAC4	1272 151056 2026 2215 2582 2632 27036 27090 27180 2739 3251 3383 4099 4153 4360 51477 5310 5319 55512 55790 5730 5742 5743 6610 6900	Homo sapiens (human)
DOID:13603	obstructive jaundice Aliases: Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia	CD14 CYP3A4 LYZ PCNA PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 UCP2 VCAM1	10908 1576 4069 5111 5290 5291 5293 5294 7351 7412 929	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:9778	irritable bowel syndrome Aliases: IBD Irritable colon	ACE ACHE ACSBG1 AGA AKR1B1 ARSA CAT CD14 CEACAM6 CHGA COMT CYP2B6 CYP4F3 GLB1 GLUL HSD11B1 HSD11B2 IL18R1 KLB LCT MBL2 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PTGS2 SI SLC26A2	1113 1312 152831 1555 1636 175 1836 231 23205 2720 2752 2923 3290 3291 3938 4051 410 4153 43 4680 5290 5291 5293 5294 5315 5743 6476 847 8809 929	Homo sapiens (human)
DOID:4072	duodenum disease Aliases: duodenal disease duodenum disorder	CAT CEACAM5 CEACAM7 CYP2C9 DHRS11 HSD17B7 OGG1 PTEN PTGS2	1048 1087 1559 4968 51478 5728 5743 79154 847	Homo sapiens (human)
DOID:11400	pyelonephritis	ACE APRT CAT CYP2C9 DCN DHCR7 DPEP1 GLA HSPG2 IL18R1 MMUT PLA2R1 REG3G SDC1 SDC2 SFTPA1 SFTPA2 SFTPD SLC3A1 TLR1 TM7SF2 UMOD	130120 1559 1634 1636 1717 1800 22925 2717 3339 353 4594 6382 6383 6441 6519 653509 7096 7108 729238 7369 847 8809	Homo sapiens (human)
DOID:0110444	dilated cardiomyopathy 1X Aliases: CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0110852	rhizomelic chondrodysplasia punctata type 2 Aliases: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Dhapat Deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Rcdp2	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:9673	ulcerative stomatitis	CAT FCGR3B MICA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PPT1 PSAP UGT1A1 UNG	100507436 142 2215 5290 5291 5293 5294 54658 5538 5660 7374 847	Homo sapiens (human)
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)
DOID:0050541	Charcot-Marie-Tooth disease type 4 Aliases: hereditary motor and sensory neuropathy	FIG4 MAG MTM1 MTMR2	4099 4534 8898 9896	Homo sapiens (human)
DOID:0060293	autosomal dominant chondrodysplasia punctata	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:0080265	nephrotic syndrome type 14	SGPL1	8879	Homo sapiens (human)
DOID:0050854	Muckle-Wells syndrome Aliases: MWS neutrophilic urticaria	IL18R1 NT5E PLCG2	4907 5336 8809	Homo sapiens (human)
DOID:1752	ocular melanoma Aliases: eye melanoma intraocular melanoma melanoma of eye	ASAH1 CD177 CYP24A1 CYP27B1 PNPLA2 SDHD	1591 1594 427 57104 57126 6392	Homo sapiens (human)
DOID:8125	osteochondrosis Aliases: Epiphyseal necrosis apophysitis epiphysitis osteochondritis osteochondritis juvenilis	COL9A2	1298	Homo sapiens (human)
DOID:1586	rheumatic fever Aliases: ACUTE RHEUMATIC FEVER RhF - Rheumatic fever	ABO FCGR3B FCN1 FCN2 GALNS ICAM1 IDH1 MASP2 MBL2 PARP1 PIK3C3 PTEN	10747 142 2215 2219 2220 2588 28 3383 3417 4153 5289 5728	Homo sapiens (human)
DOID:4386	myofibroma Aliases: Lipoleiomyoma	ACE CD38 CD44 CHST3 COG5 COG6 COMT CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP2B6 CYP4F3 DHCR24 EBP EDEM2 ENO1 FASN FH FMOD GLB1 HK3 HPGDS HPSE2 HSD17B1 HSD17B2 HSD17B7 IL18R1 LGALS3 OGG1 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B POGLUT3 PTEN PTGS2 RECK SDHB SLC2A4 SMUG1 SORD TKTL1 UGT1A8 VCAN	10466 10682 1312 143888 1462 1543 1545 1555 1586 1588 1591 1636 1718 2023 2194 2271 2331 23583 2720 27306 3101 3292 3294 3958 4051 4968 51478 5223 5290 5291 5293 5294 5319 54576 55741 5728 5743 57511 60495 6390 6517 6652 8277 8434 8809 9469 952 960	Homo sapiens (human)
DOID:0110727	neuronal ceroid lipofuscinosis 13 Aliases: CLN13 neuronal ceroid lipofuscinosis 13 Kufs type	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:885	fascioliasis Aliases: Fasciola hepatica infection Infection by Fasciola Liver flukes Sheep liver fluke infection	HPGDS PSAP SLC17A5	26503 27306 5660	Homo sapiens (human)
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	ACADM ACOT7 ACSS2 AGXT ALDH1A3 ALOX15 ALOX5 ALPP ANXA5 APRT ATRNL1 CAT CD14 CD44 CEACAM5 CEACAM7 CHI3L1 CHST14 CNTN3 CYP19A1 CYP1A2 CYP2B6 EFNA1 ENO1 FBP1 FCGR3B FIG4 FUT1 GGT1 GPC3 GPNMB HK2 ICAM1 IDH1 IDH2 KLRK1 LDHA LGALS1 LGALS3 MCAT MICA MRC1 MSLN MUTYH NEIL1 OGG1 OPCML PAFAH1B1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G15 PLA2G4A PLA2G7 PSMD10 PTEN PTGES PTGS2 RECK SCP2 SIRT2 SMUG1 SPHK1 STS TNFRSF10C UNG	100507436 10232 10457 1048 1087 1116 113189 11332 142 1544 1555 1588 189 1942 2023 220 2203 2215 22914 22933 23583 23659 240 246 250 2523 26033 2678 2719 27349 308 3099 3383 34 3417 3418 353 3939 3956 3958 412 4360 4595 4968 4978 5048 5067 5290 5291 5293 5294 5311 5315 5321 55902 5716 5728 5743 6342 7374 7941 79661 8434 847 8794 8877 929 9536 960 9896	Homo sapiens (human)
DOID:14796	Dubowitz syndrome Aliases: Dubowitz's syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)

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