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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 **126 - 150** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0050807	Kahrizi syndrome Aliases: KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome	SRD5A3	79644	Homo sapiens (human)
DOID:0111865	MEND syndrome Aliases: male EBP disorder with neurological defects	EBP	10682	Homo sapiens (human)
DOID:9810	polyarteritis nodosa	ABO ACE B3GAT1 CEL CHI3L1 CYP21A2 FCGR3B GBA3 GFRA1 GLA INPP4B KLRB1 MICA NAAA NT5E PARP9 PTEN SELP SLC27A5 SMUG1 TPI1 VCAM1	100507436 1056 10998 1116 1589 1636 2215 23583 2674 27087 27163 2717 28 3820 4907 5728 57733 6403 7167 7412 83666 8821	Homo sapiens (human)
DOID:11342	arcus senilis Aliases: Arcus of cornea corneal arcus	EPHX2 LCAT	2053 3931	Homo sapiens (human)
DOID:0080187	chronic neutrophilic leukemia	CALR CEL SOAT1	1056 6646 811	Homo sapiens (human)
DOID:2626	choroid plexus papilloma Aliases: childhood choroid plexus papilloma	CAT CYP19A1 IGF2R TP53	1588 3482 7157 847	Homo sapiens (human)
DOID:11759	hypochromic anemia Aliases: ANEMIA HYPOCHROMIC	ACO1 CACNA2D3 CAT CD55 GOLPH3 IDUA LALBA PLA2G4A PLA2G6	1604 3425 3906 48 5321 55799 64083 8398 847	Homo sapiens (human)
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	ABO ACACA ACADM ACADS ACAN ACAT1 ACE ACHE ACLY ACOT7 ACSL5 ACSL6 ACSS2 ADIPOQ ADRB3 AGPAT2 AKR1B1 ALDH2 ALDH7A1 ALG12 ALG9 ALOX12 ALOX15 AMACR ANXA5 APRT ARSB ARSD ATP6AP2 ATP6V1A BDH1 CALR CAT CBR3 CD14 CD44 CDS1 CDS2 CERS1 CERS5 CHGA CHI3L1 CHPT1 CNTN5 COG7 CPT1A CPT1B CPT2 CS CYP11B1 CYP11B2 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F3 DAG1 DCN DGAT1 DLD DLST EBP ELOVL6 ENO2 ENPP1 EPHX2 FADS1 FADS2 FASN FDPS FH FKRP FKTN FMOD G6PD GAD1 GAL3ST1 GALNT1 GAPDH GBA1 GBE1 GLA GLB1 GNPTAB GPD1L GUSB HADH HADHA HADHB HJV HK2 HMGCL HPGDS HSD11B1 HSPG2 HTR2A ICAM1 IDS IGF2R IL1RL1 INPPL1 ISYNA1 ITPK1 KL KLRK1 LCAT LEPR LGALS16 LGALS1 LGALS3 LIPC LPIN2 LPL LY75 LYZ MCAT MDH2 ME1 MGAT1 MMUT MPI MRC1 NAGLU NAMPT NANS NCAM1 NDUFAB1 NPL NT5E NTM OGA OGDH OGT OLR1 PAFAH1B1 PARP1 PCK1 PGK1 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLA2G2A PLA2G7 PLCD1 PLCE1 PLCG1 PLD1 PLD2 PLPP3 PNPLA2 POFUT1 PPP1CC PPP1R3A PPT1 PRKAA2 PTEN PTGIS PTGS1 PTGS2 RBP4 RENBP SCD SDC1 SDC2 SDC4 SDCBP2 SDHA SDHB SDHC SDHD SELE SELP SFTPD SGPL1 SIRT6 SLC17A5 SLC26A2 SLC2A10 SLC2A4 SLC33A1 SLC35A1 SLC39A8 SLC5A1 SMPD1 SMPD2 SMUG1 SOAT1 SPHK1 SRGN STS SUCLA2 SULT1E1 TM7SF2 TMTC3 TNF TPI1 UCP2 UGT1A1 UGT2B7 UMOD VCAM1 XYLT1 XYLT2	10135 10159 1040 10555 10559 10682 10715 10724 1113 1116 11332 1374 1375 1376 142 1431 148003 148738 1543 1544 1545 155 1555 1557 1571 1573 1576 1577 1584 1585 1594 160418 1605 1634 1636 1738 1743 176 1836 2026 2053 217 2194 2218 2224 2271 22914 231 23171 23305 2331 23509 23583 23600 23659 239 246 2539 2571 2589 2597 2629 2632 26503 27111 2717 2720 27306 27349 28 2990 3030 3032 3033 308 3099 31 3155 3290 3339 3356 3383 34 3423 3482 35 353 3636 3705 38 3931 3953 3956 3958 3990 3992 4023 4051 4065 4069 411 412 414 4191 4199 4245 43 4351 4360 4594 4669 4684 47 4706 4907 4967 4973 501 5048 50863 5105 51196 51477 51548 5167 51703 523 5230 5281 5290 5291 5293 5294 5310 5311 5320 5333 5335 5337 5338 53942 54187 54658 5501 5506 5538 5552 5563 55902 56994 57104 5728 5740 5742 5743 5950 5973 622 6319 6382 6383 6385 6389 6390 6391 6392 6401 6403 64116 64131 64132 6441 6517 6523 6609 6610 6646 6783 7108 7124 7167 7351 7364 7369 7412 79071 79087 79147 79158 7941 79796 80896 81031 811 847 8473 8613 8694 874 8760 8803 8877 8879 91012 9173 91949 9197 929 9365 9370 9415 9514 960 9663	Homo sapiens (human)
DOID:10485	esophageal atresia Aliases: Congenital atresia of esophagus Congenital imperforate esophagus Imperforate esophagus Oesophageal atresia	CEACAM5 CEACAM7 PTEN	1048 1087 5728	Homo sapiens (human)
DOID:1510	personality disorder Aliases: character disorder	ACE ADH1B ALDH2 CAT CYP2E1 EXT1 GAD1	125 1571 1636 2131 217 2571 847	Homo sapiens (human)
DOID:4184	pseudohypoparathyroidism	ADH1A APRT ASAH1 COMT CYP27B1 CYP2R1 DGCR2 GPC1 HADHA HADHB ST8SIA4 STS	120227 124 1312 1594 2817 3030 3032 353 412 427 7903 9993	Homo sapiens (human)
DOID:14291	Noonan syndrome with multiple lentigines Aliases: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Generalized lentiginosis Gorlin syndrome II LEOPARD syndrome Lentiginosis profusa syndrome Moynahan syndrome Multiple lentigines syndrome Progressive cardiomyopathic lentiginosis	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:3362	coronary aneurysm Aliases: Aneurysm of coronary vessels Aneurysmal lesion of coronary artery Arteriovenous aneurysm of coronary vessels	ACE ACSS2 ADIPOQ ITPKC MBL2 MICA PLA2G15 PLCB1 PLCB4 SRGN SULT1E1	100507436 1636 23236 23659 4153 5332 5552 55902 6783 80271 9370	Homo sapiens (human)
DOID:12971	hereditary spherocytosis Aliases: Congenital spherocytic hemolytic anemia Minkowski Chauffard syndrome spherocytic anemia	ACE CAT CD55 G6PD GAPDH HK1 PGK1 PTGS2 ST8SIA4 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UMPS	1604 1636 2539 2597 3098 5230 54575 54576 54577 54578 54657 54658 5743 7372 7903 847	Homo sapiens (human)
DOID:4817	ganglioneuroma	CD44 CS LGALS3 NCAM1 PTEN SDHC SIGLEC7	1431 27036 3958 4684 5728 6391 960	Homo sapiens (human)
DOID:4890	juvenile myoclonic epilepsy	ALDH5A1 EXT1 NPL	2131 7915 80896	Homo sapiens (human)
DOID:9801	tuberculous peritonitis	CEACAM5 CEACAM7 PTGS2	1048 1087 5743	Homo sapiens (human)
DOID:14693	Clouston syndrome Aliases: Clouston's hidrotic ectodermal dysplasia Clouston's syndrome Hidrotic ectodermal dysplasia syndrome ectodermal dysplasia 2, Clouston type hidrotic ectodermal dysplasia	ACACA ACACB ACADVL ACOT7 ALOX15B ARSA B3GAT1 CD14 CD38 CD44 CTBS CYP11B1 CYP17A1 CYP19A1 DGKZ DHCR24 EOGT GAA GUSB HSD17B4 IGF2R MRC1 NAGA NAGLU PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN PTGS2 SDHB SIRT6 SMUG1 SOAT1 SORD SPHK1 VCAN	11332 1462 1486 1584 1586 1588 1718 23583 247 2548 27087 285203 2990 31 32 3295 3482 37 410 4360 4668 4669 51548 5290 5291 5293 5294 5563 5728 5743 6390 6646 6652 8525 8877 929 9468 952 960	Homo sapiens (human)
DOID:698	dentin sensitivity Aliases: Sensitive dentin	ISYNA1 NDUFAB1	4706 51477	Homo sapiens (human)
DOID:990	congenital heart block	CALR SIGLEC1	6614 811	Homo sapiens (human)
DOID:0060679	catecholaminergic polymorphic ventricular tachycardia 5 Aliases: CVPT5	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)
DOID:1272	telangiectasis Aliases: telangiectasia	ACE CEACAM5 DGKE DPM1 PEMT PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE TALDO1	10400 1048 1636 27315 284098 5290 5291 5293 5294 55650 5728 6401 6888 84720 84992 8526 8813 93210 9487	Homo sapiens (human)
DOID:0080342	Simpson-Golabi-Behmel syndrome type 2	PIGA	5277	Homo sapiens (human)
DOID:2799	bronchiolitis obliterans Aliases: Bronchiolitis exudativa Bronchiolitis fibrosa obliterans Obliterative bronchiolitis	ACE CHI3L1 ICAM1 KLRK1 MBL2 PIK3CD SELE SFTPA1 SFTPD VCAN	1116 1462 1636 22914 3383 4153 5293 6401 6441 653509	Homo sapiens (human)
DOID:0110008	achromatopsia 3 Aliases: ACHM1 ACHM3 Pingelapese blindness RMCH1 rod monochromacy 1 rod monochromatism 1	NYX	60506	Homo sapiens (human)

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