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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 **1726 - 1750** of **4621** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0060873	isolated growth hormone deficiency type IA Aliases: IGHD IA Illig-type growth hormone deficiency autosomal recessive isolated growth hormone deficiency pituitary dwarfism I primordial dwarfism sexual ateleiotic dwarfism	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ACADM ACADVL AGL ALG14 ALG2 B3GALNT2 B4GALT1 B4GAT1 CHKB COG7 COG8 CPT1A CPT2 CRPPA DAG1 DOLK DPAGT1 DPM1 DPM2 DPM3 ENO3 FKRP FKTN GAA GFPT1 GMPPB GNE HSPG2 INPP5K LARGE1 LDHA LPIN1 OCRL PGAM2 PIGY PKD1 PLA2G6 PNPLA2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PYGM SDHA SUCLA2 SYNJ1 TMEM165	10020 10585 11041 1120 1374 1376 148789 1605 178 1798 199857 2027 2218 22845 23175 2548 2673 2683 29925 29954 3339 34 37 3939 4952 51763 5224 5310 54344 55624 55858 56983 57104 5837 6389 729920 79147 8398 84197 84342 84892 84992 85365 8803 8813 8818 8867 91949 9215	Homo sapiens (human)
DOID:0111148	isolated ectopia lentis Aliases: IEL familial ectopia lentis	B3GALT6 HSPG2	126792 3339	Homo sapiens (human)
DOID:0110213	isolated cleft palate	ALPP ATRNL1 B3GALT6 B3GAT3 B3GLCT CAT CHST14 CHST3 COL9A2 COLEC10 COLEC11 COMT CYP1A2 CYP24A1 DHCR24 EBP FKRP FKTN G6PC3 GAD1 GAS1 GMPPB GPC3 HSPG2 INPP5E INPPL1 LARGE1 LFNG MASP1 MRC1 MTMR3 NT5E PGAP2 PGAP3 PGM1 PIGL PIGN PIGO PIGP PIGQ PLCB4 POMT1 POMT2 SC5D SELENOI SLC26A2 SLC35D1 SMC3 SRD5A3 SRGN TGDS TIGAR TKTL1 XYLT1	10584 10585 10682 113189 126792 1298 1312 145173 1544 1591 1718 1836 2218 23169 23483 23556 250 2571 26033 2619 26229 2719 27315 29925 29954 3339 3636 3955 4360 4907 51227 5236 5332 5552 5648 56623 57103 6309 64131 78989 79147 79644 8277 847 84720 85465 8897 9091 9126 9215 92579 93210 9469 9487	Homo sapiens (human)
DOID:1799	islet cell tumor Aliases: Islet cell neoplasm endocrine pancreas cancer islet cell tumour malignant pancreatic Endocrine tumor malignant pancreatic Endocrine tumour malignant tumor of endocrine pancreas malignant tumour of endocrine pancreas pancreatic Endocrine neoplasm	ABO ACSS2 ADH1C ALDH1A3 ALOX15 ALPP ANXA5 B3GNT6 BAAT CALR CBR1 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHGA CHPT1 CLC CNTN1 CYP3A4 DHCR24 DHDDS DLD ENPP7 FUT4 GALNT12 GLB1 GUSB HPGDS ICAM1 KLRK1 LCT LGALS4 MICA MRC1 MUTYH NTHL1 OGG1 PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 PYGM RPE RPIA SDHA SDHB SLC2A2 SLC2A3 SMPD1 SMUG1 SOAT1 TNKS UGT1A3	100507436 1012 1048 1087 1113 1178 126 1272 142 151056 1576 1604 1718 1738 192134 220 22914 22934 23583 23659 246 250 2526 2720 27306 28 2990 308 3383 339221 3938 3960 4360 4595 4913 4968 5048 5130 5290 5291 5293 5294 5311 5319 5320 5321 5336 54659 5563 55902 56994 570 5716 5728 5742 5743 5837 6120 6389 6390 6514 6515 6609 6646 7941 79695 79947 811 8398 8399 8658 873 9536 960	Homo sapiens (human)
DOID:0111382	ischiocoxopodopatellar syndrome Aliases: SPS Scott-Taor syndrome congenital coxa vara, patella aplasia and tarsal synostosis coxo-podo-patellar syndrome coxopodipatellar syndrome ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension ischiopatellar dysplasia patella aplasia, coxa vara, and tarsal synostosis small patella syndrome	GAD2 PLA2G1B PLA2G2A PLA2G6	2572 5319 5320 8398	Homo sapiens (human)
DOID:0060181	ischemic colitis	PC PTGS2 SMUG1	23583 5091 5743	Homo sapiens (human)
DOID:326	ischemia	ABAT AKT2 ANXA5 CYP2E1 LIPC PTGES PTGS2 SELL TP53	1571 18 208 308 3990 5743 6402 7157 9536	Homo sapiens (human)
DOID:2772	irritant dermatitis Aliases: irritant contact dermatitis primary irritant dermatitis	APRT CBR1 PLCD1 PLCG1	353 5333 5335 873	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:2351	iron metabolism disease Aliases: disorder of iron metabolism iron disorder	ACACA ACE ACO1 AKR1D1 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CYP27B1 G6PD GALNS GLUL GNPAT GPX1 HJV IL1R1 NDUFAB1 PNPLA3 PRNP SLC17A5 SLC39A8 SMPD1 VCAM1	148738 1594 1636 250 2539 2588 26033 26503 2752 2876 308 31 3554 410 4706 48 5621 64116 6609 6718 7412 80339 811 84317 8443 847	Homo sapiens (human)
DOID:11758	iron deficiency anemia	GPX1 TNF	2876 7124	Homo sapiens (human)
DOID:240	iris disease	ACAN ACE AKR1B1 CD14 CYP24A1 CYP27B1 EXTL3 ICAM1 IL1RAP MICA OVGP1 PIK3CA PIK3CB PIK3CG PLA2G15 RPE RTN4R SMUG1 TM7SF2 VCAN VTCN1	100507436 1462 1591 1594 1636 176 2137 231 23583 23659 3383 3556 5016 5290 5291 5294 6120 65078 7108 79679 929	Homo sapiens (human)
DOID:9383	iridocyclitis Aliases: primary iridocyclitis	ICAM1	3383	Homo sapiens (human)
DOID:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	PIK3CA PIK3CD PIK3CG PTEN	5290 5293 5294 5728	Homo sapiens (human)
DOID:6945	inverted follicular keratosis Aliases: Inverted folicular keratosis	CYP24A1 HK2 INPP5A LGALS3 MMUT NTHL1 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PPT1 PTGS2 SDHD	1591 3099 3632 3958 4594 4913 5290 5291 5293 5294 5338 5538 5743 6392	Homo sapiens (human)
DOID:3283	invasive malignant thymoma Aliases: Infiltrating Thymoma Thymoma malignant Invasive	SMUG1	23583	Homo sapiens (human)
DOID:3457	invasive lobular carcinoma Aliases: Lobular carcinoma Lobular carcinoma of breast Lobular carcinoma of the breast	CD44 IDH1 PIK3CA PLAUR PTGS2 PYGM	3417 5290 5329 5743 5837 960	Homo sapiens (human)
DOID:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	ABO ADH4 AKT1 ALDOA ASAH1 ATP6AP2 CD14 CD44 CHI3L1 CTSA CYP19A1 DCN DHCR24 DHRS11 DPEP1 ENO1 FUT3 GAL3ST1 GPX3 HMMR HPGDS HPSE HSD17B12 HSD17B1 HSD17B7 IDH1 KL KLB LGALS1 LGALS3 MCAT MGAT5 MGLL NAMPT NEU1 PCNA PDIA3 PFKFB4 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1C PLCB2 POFUT1 PRKAA2 PSMD10 PTEN PTGS2 RGN SDC1 SELE SLC35B2 SMUG1 ST8SIA1 SULF2 UGCG VTCN1	10135 10159 10855 1116 11343 127 152831 1588 1634 1718 1800 2023 207 226 23396 23509 23583 2525 27306 27349 28 2878 2923 3161 3292 3417 347734 3956 3958 4249 427 4758 5111 51144 51478 5210 5290 5291 5293 5294 5330 5476 5563 55959 5716 5728 5743 6382 6401 6489 7357 79154 79679 9104 929 9365 9514 960	Homo sapiens (human)
DOID:0050073	invasive aspergillosis	CYP2C19 MBL2 TLR4	1557 4153 7099	Homo sapiens (human)
DOID:8446	intussusception Aliases: Intussusception of intestine Invagination of intestine or colon	PCYT1A PTEN SLC35G1	159371 5130 5728	Homo sapiens (human)
DOID:9360	intrinsic asthma Aliases: non-atopic asthma	ABO ACAA1 ACE ACHE ACOT7 ACSL3 ADH1B ADH5 AGXT AKR1B1 ALDH2 ALDH3A1 ALDH3A2 ALDH7A1 ALOX15 ALOX15B ALOX5 ALPL ANXA4 ANXA5 APRT ARSA ATRN B3GAT1 BST1 CAT CD14 CD1D CD33 CD38 CD44 CD48 CD93 CDH13 CEACAM5 CEACAM6 CEL CHAT CHI3L1 CHIA CHIT1 CHST8 CLC CLEC10A CLEC16A CLEC4E CLEC7A COG6 COL9A2 COMT CRYBG1 CTSA CYP11A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP3A7 CYP4F3 DAD1 DAG1 DCN DGKB DGKE DGKG DGKH EBP EFNA1 ENO1 ENO2 ENPP1 FADS1 FADS2 FCER2 FCGR3B FUT2 G6PD GALNT17 GAPDH GAS1 GFRA4 GGT1 GLA GLB1 GLDC GLT1D1 GNPDA2 GPX1 GPX3 HACD1 HAS2 HEXB HPGDS HSD11B2 ICAM1 IDS IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 INPP4A ISYNA1 ITLN1 ITPKA KLRB1 KLRD1 LCT LGALS1 LGALS3 LGALS9 LIPA LIPG LPCAT1 LPCAT3 LPIN2 LTA4H LTC4S LYNX1 MANBA MBL2 MRC1 NT5E OGG1 ORMDL1 ORMDL2 OTOG PAFAH1B1 PARP14 PARP1 PARP9 PDIA3 PGAP3 PGD PGM3 PGP PIGX PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1B PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G4C PLA2G6 PLA2G7 PLA2R1 PLAUR PLB1 PLCG1 PLD1 PNPLA3 PRG2 PRNP PTEN PTGDS PTGES PTGS1 PTGS2 RGMB SCD SDC4 SDHD SELE SELL SELP SFTPA1 SFTPA2 SFTPC SFTPD SIGLEC1 SIGLEC8 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC27A5 SLC2A10 SLC33A1 SMC3 SMPD1 SOAT1 ST6GAL1 STS TALDO1 TBXAS1 TM7SF2 TMTC2 TPI1 UGT1A1 UGT1A3 UGT1A6 VCAM1 VNN1	1012 10162 10462 1048 1056 10682 10998 1103 11141 1116 1118 11332 1178 120227 125 128 1298 1312 132789 142 144423 151056 1543 1544 1545 1551 1555 1557 1558 1571 1573 1576 1577 1583 1591 1593 1594 1603 160335 1605 1607 1608 160851 1634 1636 189 1942 202 2023 2026 217 218 2181 2208 2215 224 22918 22925 22933 231 23274 240 246 247 249 2524 2539 2597 2619 26253 26503 2678 27087 27159 2717 27180 27181 2720 27306 2731 28 283871 285704 2876 2878 29095 2923 30 3037 307 3074 308 3291 3383 340990 3423 353 3554 3631 3706 3820 3824 3938 3956 3958 3965 3988 3992 4048 4051 4056 410 412 4126 4153 43 4360 4680 4907 4968 501 5048 51477 51548 5167 5226 5238 5290 5291 5293 5294 5319 5320 5321 5329 5335 5337 54578 54625 54658 54659 5476 54965 5553 55600 5621 5728 5730 5742 5743 57511 6319 6385 6392 6401 6402 6403 64096 64377 6440 64409 6441 64581 6480 653509 66004 6609 6614 6646 683 6888 6916 7108 7167 729238 7412 7941 79888 80339 81031 83666 8395 8398 8399 8455 847 8526 8605 8807 8809 8876 912 9126 9173 9197 9200 929 93210 9388 94101 9415 945 952 9536 960 962 9663	Homo sapiens (human)
DOID:3772	intraventricular meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:4141	intraorbital meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:775	intraocular lymphoma Aliases: primary intraocular lymphoma	CAT	847	Homo sapiens (human)

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