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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 **1051 - 1075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	ALG6 IGF2 MPI OGA PMM1 PMM2	10724 29929 3481 4351 5372 5373	Homo sapiens (human)
DOID:0090049	paroxysmal nonkinesigenic dyskinesia 1	CD14 CEACAM7 ST3GAL5 UGP2	1087 7360 8869 929	Homo sapiens (human)
DOID:12638	hypertrophic pyloric stenosis Aliases: congenital hypertrophic pyloric stenosis congenital or infantile stricture of pylorus	UGT1A1	54658	Homo sapiens (human)
DOID:13918	somatization disorder Aliases: Briquet's disorder Somatisation disorder	ACE COMT	1312 1636	Homo sapiens (human)
DOID:10155	intestinal cancer Aliases: malignant intestinal tumors malignant neoplasm of intestine	B4GALNT1 CEACAM5 DCN EFNA1 GPX1 GPX2 HPGDS PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PRSS8 PTGDS PTGS2 SHMT1 SMC3 TIGAR	1048 1634 1942 2583 27306 2876 2877 5290 5291 5293 5294 5320 5652 57103 5730 5743 6470 9126	Homo sapiens (human)
DOID:0111633	congenital sucrase-isomaltase deficiency Aliases: CSID SI deficiency congenital sucrase-isomaltose malabsorption congenital sucrose intolerance disaccharide intolerance	SI	6476	Homo sapiens (human)
DOID:10646	schizotypal personality disorder	COMT	1312	Homo sapiens (human)
DOID:4556	lung large cell carcinoma Aliases: large cell carcinoma of lung large cell lung carcinoma	GLB1 KL PLAUR	2720 5329 9365	Homo sapiens (human)
DOID:3393	coronary artery disease Aliases: CHD Coronary disease coronary arteriosclerosis coronary heart disease	ABO ACACA ACACB ACADS ACAN ACAT1 ACAT2 ACE ACHE ACLY ACOT2 ACOT7 ACSL1 ACSS2 ADH1A ADH1B ADH1C ADH5 ADIPOQ ADRB3 AGPAT2 AGXT AKR1A1 AKR1B10 AKR1B1 ALDH1B1 ALDH2 ALDH6A1 ALDOA ALOX12 ALOX15 ALOX15B ALOX5 ALPL ANXA5 APRT ARSA ARSB ARSD ARSI ASGR1 ATP6AP2 ATP6V0A2 B3GAT1 B4GALNT1 B4GALNT2 B4GALT1 CACNA2D2 CALR CANX CAT CD14 CD1D CD248 CD44 CD74 CD93 CDH13 CEL CERS1 CFC1 CH25H CHGA CHI3L1 CHIT1 CHST3 CHST9 CLEC10A CLEC1B CLEC6A CLEC7A CLEC9A CNTN3 COG2 COG5 COG6 COMT CPT1A CPT2 CS CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP4F2 CYP7A1 DAG1 DCN DGAT1 DGKK DHCR24 DHCR7 DLAT DLD DPEP2 DPEP3 EBP EFNA5 ELOVL2 ELOVL6 ENPP1 ENPP7 EPHX2 EXTL3 FADS1 FADS2 FCGR3B FCN1 FCN2 FCN3 FDPS FMOD FOLR2 FUT3 FUT8 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GALNT4 GALNT7 GAPDH GCK GGT1 GK GLO1 GLT1D1 GLUL GPD1L GPI GPIHBP1 GPLD1 GPX1 GPX3 GUSB GYG1 H6PD HADHA HAS2 HAS3 HJV HK1 HK2 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSPG2 ICAM1 IDH2 IGF2R IL18R1 IL1R1 IL1RAP IL1RL1 INPP5D INPP5K ISYNA1 ITLN1 ITPK1 KL KLRK1 LCAT LCT LDHA LEPR LGALS2 LGALS3 LIPA LIPC LIPG LMAN1 LPCAT3 LPL LSS LTA4H LTC4S LYZ MAG MBL2 MCFD2 MGAM MGLL MICA MMP17 MPI MRC1 MTAP NAAA NAGLU NAMPT NANS NCAM1 NDST4 NDUFAB1 NEU1 NT5E OGA OGDH OGG1 OLR1 OXCT1 PAFAH2 PARP12 PARP1 PARP2 PARP3 PC PCYT1A PCYT1B PDHA1 PEMT PFKFB3 PFKL PFKM PGM1 PIGF PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4A PLA2G5 PLA2G6 PLA2G7 PLAUR PLB1 PLCD1 PLCD3 PLCG1 PLCG2 PLPP3 PNP PNPLA2 PNPLA3 PPARA PPP1R3B PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 PYGB PYGM RBP4 RENBP RGN RPN1 SACM1L SCD SDC1 SDC4 SELE SELENOI SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPD SGMS2 SGPL1 SI SIGLEC1 SIRT2 SIRT4 SIRT6 SLC17A5 SLC2A12 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35G1 SLC39A8 SLC5A1 SMC3 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SOAT2 SPHK1 SPHK2 SRGN ST3GAL4 ST6GAL1 ST6GALNAC5 ST8SIA1 ST8SIA4 STS SUCLA2 SULT1E1 TBXAS1 TLR4 TM7SF2 TNF TP53 TPI1 TYMP UGCG UGT1A1 UGT1A6 UMOD UMPS VCAM1 VCAN VNN1	10038 10039 100507436 1012 10135 10159 10162 10327 10400 10462 10466 10555 10559 1056 10682 10715 10724 10855 10965 1113 1116 1118 113026 11332 11343 120227 124 124872 125 126 128 1312 1374 1376 139189 142 1431 144423 1462 148738 151056 154091 1543 1544 1545 155 1555 1557 1558 1559 1571 1573 1576 1577 1579 1581 1585 1586 1588 1589 1593 159371 1594 1605 1634 1636 166929 1717 1718 1737 1738 176 189 1890 1946 2053 2137 217 2180 219 2215 2219 2220 2224 226 22796 22908 22914 22918 22933 231 23171 2331 23409 2350 23545 23583 23659 239 240 246 247 249 2525 2530 2539 2571 2583 2590 2591 2597 26279 2645 26503 2678 2683 27087 2710 27163 27306 2739 2752 28 2821 2822 283420 2876 2878 2990 2992 3030 3037 3038 308 3098 3099 31 3158 32 3290 3339 3383 338328 339221 340075 3418 3482 35 353 3554 3556 3635 3705 38 39 3931 3938 3939 3953 3957 3958 3988 3990 3992 3998 4023 4047 4048 4056 4069 4099 410 411 412 414 4153 43 432 4326 4329 4351 4360 4507 4669 4684 47 4706 4758 4860 4907 4967 4968 4973 5019 5051 5067 5091 51266 5130 51477 51548 5160 5167 51763 51809 5209 5211 5213 5236 5281 5286 5290 5291 5293 5294 5310 5315 5319 5320 5321 5322 5329 5333 5335 5336 54187 54578 5465 54658 54898 55512 5552 55600 5563 55902 55997 5621 56848 57016 57104 57124 5728 5730 5740 5742 5743 57511 5834 5837 5950 5973 60495 6184 6319 6382 6385 6401 6402 6403 64116 64174 64180 6441 64579 64581 6476 64761 6480 6484 6489 6515 6517 6523 653509 6609 6610 6614 6646 6783 6916 7099 7108 7124 7157 7167 729238 7357 7369 7372 7412 7903 79071 7941 79660 80339 811 81849 821 83539 8398 8399 8435 847 8482 8529 85465 8547 8613 8693 8694 8803 8809 8876 8877 8879 8972 9023 90411 9104 912 9126 9173 9197 9254 929 9365 9370 9388 93978 9415 9468 9469 9514 9536 9563 960 972 9957	Homo sapiens (human)
DOID:0080600	COVID-19 Aliases: 2019 Novel Coronavirus (2019-nCoV) 2019-nCoV infection COVID19 SARS-CoV-2 infection Wuhan coronavirus infection Wuhan seafood market pneumonia virus infection	ABO ACE BDH1 IL1R1 LGALS3 SELE TNF	1636 28 3554 3958 622 6401 7124	Homo sapiens (human)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	PIGB	9488	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:8619	recurrent hypersomnia Aliases: primary recurrent hypersomnia	ABAT CD55 CHKB COMT HACD1 LGALS3 PNPLA6 PRNP SMUG1	10908 1120 1312 1604 18 23583 3958 5621 9200	Homo sapiens (human)
DOID:9253	gastrointestinal stromal tumor Aliases: GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour	ALDH7A1 AMACR ANXA5 CD14 CD44 CD55 CMAS CYP1A2 CYP1B1 CYP2C8 EPHX2 FASN HSD11B1 L1CAM LDHA LYZ MCAT MGLL MTAP NCAM1 NDST1 PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKM PLCB4 PTEN PTGS2 SDHA SDHB SDHC SDHD SELP SLC2A4 SMUG1 SOAT1 SORD TKTL1 VCAN	11343 1462 1544 1545 1558 1604 2053 2194 23583 23600 27349 308 3290 3340 3897 3939 4069 4507 4684 501 5286 5290 5291 5293 5294 5315 5332 55907 5728 5743 6389 6390 6391 6392 6403 6517 6646 6652 8277 929 960	Homo sapiens (human)
DOID:0080141	mosaic variegated aneuploidy syndrome 1	CNTN3	5067	Homo sapiens (human)
DOID:1802	mononeuritis	SDHD	6392	Homo sapiens (human)
DOID:13364	obsolete chronobiology disease	ACE	1636	Homo sapiens (human)
DOID:10146	thymus lymphoma	MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	4360 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0060847	Leri-Weill dyschondrosteosis	EXT1 EXT2	2131 2132	Homo sapiens (human)
DOID:1993	rectum cancer Aliases: carcinoma of rectum carcinoma of the rectum malignant Rectal tumor malignant neoplasm of rectum malignant rectum tumor malignant tumor of rectum rectal cancer	ABO ACAT1 ACE ACSS2 ALDH2 ALDH7A1 ALDOB ALOX12 ALOX15 ARSA ASAH1 CALR CD44 CEACAM5 CEACAM7 CERS4 CERS5 CHI3L1 CHPT1 COMT CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP2E1 DHCR24 DHDDS EXT1 FH GPX2 GPX3 HMGCS2 HPGDS HSD17B2 MAPK14 MICA MRC1 MUTYH NT5E NTHL1 OGG1 PARP1 PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G4A PNPLA2 PTEN PTGS1 PTGS2 RENBP SDHA SDHC SMUG1 TDG TKT TKTL1 TYMP UGT1A1 UMPS	100507436 1048 1087 1116 1312 142 1432 1543 1544 1571 1586 1588 1591 1636 1718 1890 2131 217 2271 229 23583 23659 239 246 27306 28 2877 2878 3158 3294 38 410 427 4360 4595 4907 4913 4968 501 5106 5290 5291 5293 5294 5321 54658 55902 56994 57104 5728 5742 5743 5973 6389 6391 6996 7086 7372 79603 79947 811 8277 91012 960	Homo sapiens (human)
DOID:2365	West Nile encephalitis Aliases: West Nile Fever with encephalitis West Nile fever encephalitis	NAMPT PIK3CA PIK3CB PIK3CD	10135 5290 5291 5293	Homo sapiens (human)
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	DAG1 GMPPB POMT1 POMT2	10585 1605 29925 29954	Homo sapiens (human)
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	ACADM ACSBG1 ALG10 ALG10B CNTN3 CYP1A1 KCNQ1 PTEN SCD SLC2A5 SQLE	144245 1543 23205 34 3784 5067 5728 6319 6518 6713 84920	Homo sapiens (human)
DOID:0070434	hyperphosphatasia with impaired intellectual development syndrome 2 Aliases: GPIBD6 HPMRS2 glycosylphosphatidylinositol biosynthesis defect 6 hyperphosphatasia with mental retardation syndrome 2	PIGO	84720	Homo sapiens (human)
DOID:0050460	Wolf-Hirschhorn syndrome Aliases: 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome chromosome 4p16.3 deletion syndrome	IL1RL1	9173	Homo sapiens (human)

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