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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 **326 - 350** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:1526	panniculitis	AGL PARP1 SMUG1	142 178 23583	Homo sapiens (human)
DOID:8649	tongue cancer Aliases: malignant neoplasm of tongue	CALR DAG1 GOLPH3 HPSE KLRC1 LGALS3 LSS NANS PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PTEN PTGS2	10855 1605 3821 3958 4047 5290 5291 5293 5294 5329 54187 5728 5743 64083 811	Homo sapiens (human)
DOID:3223	complex regional pain syndrome Aliases: Complex regional pain syndromes	B3GAT1 IL1R1	27087 3554	Homo sapiens (human)
DOID:2988	antiphospholipid syndrome Aliases: APS antiphospholipid antibody syndrome	ANXA5 CALR CD1D GPI IDS LCT LGALS9 MBL2 PC SELP	2821 308 3423 3938 3965 4153 5091 6403 811 912	Homo sapiens (human)
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	AACS ABO ACACA ACACB ACADL ACADM ACADVL ACAT1 ACE ACLY ACOX1 ACSL1 ACSL4 ACSL5 ACSS2 ADH1A ADH1B ADH4 ADIPOQ AGPAT1 AGPAT2 AKR1A1 AKR1B10 AKR1B1 AKR1D1 ALDH1A3 ALDH1B1 ALDH2 ALDOB ALOX12 ALOX5 ALPL ALPP APRT ART3 ATP6AP1 ATRNL1 B3GAT1 BAAT CAT CBR1 CD14 CD1D CD44 CDIPT CEL CERS1 CERS2 CERS6 CHIT1 CHKA CHPT1 CMAS CPT1A CPT1B CPT1C CPT2 CS CTSA CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP4A11 CYP4F2 CYP4F3 CYP7A1 CYP7B1 CYP8B1 DCN DDOST DGAT1 DGAT2 DHDDS DHRS11 DLAT EBP ELOVL2 ELOVL5 ELOVL6 ENO2 ENO3 ENPP1 ETNPPL FADS1 FADS2 FASN FBP1 FCGR3B FDFT1 FOLR2 FUT4 G6PC1 G6PD GCK GGT1 GLB1 GLUL GPAM GPC3 GPD1 GPD1L GPI GPX1 H6PD HACD1 HADH HADHA HADHB HAS3 HJV HKDC1 HPGDS HPSE HSD11B1 HSD17B4 HSD17B7 HSPG2 HTR2A ICAM1 IDH2 INPP5D INS ISYNA1 KDSR KHK KLB LALBA LCAT LEP LGALS3 LIPA LPIN1 LPL MBOAT7 MCAT MGLL MIOX MLYCD MOGAT1 MOGAT3 MPI MRC1 NAAA NAMPT NCAN NEIL1 NEU1 OGT OPCML PARP1 PARP2 PC PCK1 PCK2 PDIA3 PEMT PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G6 PLA2G7 PLCG1 PMM2 PNPLA2 PNPLA3 PNPLA6 PPARA PPARGC1A PPP1R3B PPP1R3C PPP1R3G PRKAA2 PSMD10 PTEN PTGS1 PTGS2 REG3G RENBP SARM1 SCD SCP2 SELE SELL SGMS2 SIGLEC1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC17A5 SLC27A5 SLC2A12 SLC2A2 SLC2A4 SLC2A8 SLC35A2 SMPD1 SMUG1 SOAT2 SORD SPHK2 SQLE ST3GAL4 ST6GAL1 ST8SIA4 STS SULF1 SULT1E1 THEM5 TM7SF2 TMEM199 TREH UCP2 UGCG UGT1A10 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B4 VCAM1 VNN1 XYLT2	10038 10135 10327 10400 10423 10554 10555 1056 10682 10715 10855 10891 10908 10998 1118 11181 1119 11343 116255 120227 124 125 126129 127 130120 1374 1375 1376 142 1431 1463 147007 148738 152831 154091 1543 1544 1545 1555 1571 1573 1576 1579 1581 1582 1586 1588 1594 1634 1636 1650 166929 1737 2026 2027 217 2180 2182 219 2194 220 2203 2215 2222 229 22933 23098 231 23171 23175 23213 23409 23417 2350 23583 239 240 249 250 2526 2531 253782 2538 2539 26033 2645 26503 2678 27036 27087 27163 2719 2720 27306 27349 2752 28 2819 2821 284486 2876 2923 29956 29988 3030 3032 3033 3038 31 32 3290 3295 33 3339 3356 3383 34 3418 346606 353 3630 3635 37 3795 38 3906 3931 3952 3958 3988 3992 4023 4051 412 419 4351 4360 47 4758 4978 5091 51 5105 5106 51477 51478 51548 5167 51703 5236 5290 5291 5293 5294 5315 5335 537 5373 54575 54576 54577 54578 5465 54657 5476 54898 5507 55586 5563 55902 55907 56848 56994 570 57016 57104 5716 5728 5742 5743 57678 5973 60481 6319 6342 6401 6402 64132 6480 6484 64850 648791 6514 6517 65985 6609 6614 6652 6713 6718 6783 7108 7351 7355 7357 7363 7412 7903 79071 79143 79154 7941 79660 79661 79947 80201 80339 8398 8435 84649 847 8473 8529 8694 873 8876 912 9200 929 9370 9415 9420 9563 960	Homo sapiens (human)
DOID:6725	spinal stenosis Aliases: Spinal stenosis of lumbar region cervical spinal stenosis lumbar spinal stenosis	CAT COL9A2 GOLPH3 LSS PTGS2	1298 4047 5743 64083 847	Homo sapiens (human)
DOID:0080611	anterior segment dysgenesis 6	CYP1B1	1545	Homo sapiens (human)
DOID:9307	rectal prolapse Aliases: Procidentia, rectum	FREM1 PTEN	158326 5728	Homo sapiens (human)
DOID:8557	oropharynx cancer Aliases: Oropharyngeal carcinoma malignant Oropharyngeal tumor malignant tumor of oropharynx malignant tumour of mesopharynx oropharyngeal cancer	ADH1B ADH1C ADH5 ALDH2 CD44 MTAP NEIL2 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1 TYMP	125 126 128 1890 217 23583 252969 4507 5290 5291 5293 5294 960	Homo sapiens (human)
DOID:7926	epithelial malignant thymoma Aliases: Squamoid Thymoma Thymoma, epithelial Well differentiated thymic carcinoma	LY75	4065	Homo sapiens (human)
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	ABO ACAN ACE ACHE ACO2 ACOT7 ADIPOQ AGA AKR1B1 ALOX15 ALOX5 AMACR AMT ANXA5 APRT ARSA ARSF ATP6AP2 B3GAT1 B4GALT5 B4GALT6 BST2 CANX CAT CD14 CD177 CD1D CD38 CD44 CD48 CD74 CEACAM5 CEACAM7 CEMIP CERS2 CERS6 CH25H CHAT CHGA CHI3L1 CHIT1 CLEC12A CLEC16A CLEC4E CNTN1 COLEC12 COMT CPT1A CSGALNACT1 CSGALNACT2 CYP17A1 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2R1 CYP3A4 CYP46A1 CYP7A1 CYP7B1 DCN DHCR24 DHCR7 DHRS11 DLD ENO1 ENPP2 FCGR3B FH FOLR2 GAD1 GAD2 GALC GANAB GAPDH GBE1 GLA GLO1 GPC5 GPI H6PD HPGDS HPRT1 HPSE HSD17B6 HSD17B7 ICAM1 ICAM5 IGF2 IL18R1 INPP4B ISYNA1 ITLN1 KL KLRB1 KLRC1 KLRD1 KLRK1 LALBA LDHA LGALS1 LGALS3 LGALS8 LGALS9 LPL MAG MANBA MASP1 MASP2 MBL2 MGAT1 MGAT5 MICA MMP25 MOGAT1 NCAM1 NCAN NT5E OGG1 OLR1 PARP1 PC PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLD1 PPT2 PRNP PSMD10 PTGES PTGS2 QTRT1 RGMA RGMB RTN4R SDC1 SELE SELP SEMA7A SGPL1 SHMT1 SIGLEC1 SIRT2 SLC2A4 SMPD1 SOAT1 SPHK1 SPHK2 ST8SIA1 SUMF1 TALDO1 TKT TLR4 TMED5 TNF TNFRSF10C TPI1 VCAM1	100507436 10159 1048 10747 10855 10858 1087 1103 1113 1116 1118 11332 116255 120227 1272 1312 1374 142 1463 151056 1545 1555 1557 1559 1576 1581 1586 1589 1591 1593 1594 160364 1634 1636 1717 1718 1738 175 176 2023 2215 2262 2271 22914 22933 231 23193 23274 2350 23600 240 246 253782 2571 2572 2581 2597 26253 2632 27087 2717 27306 2739 275 28 2821 285362 285704 29956 308 3251 3383 3481 353 3820 3821 3824 3906 3939 3956 3958 3964 3965 4023 4099 410 4126 4153 416 4245 4249 43 4684 4907 4968 4973 50 5091 50999 5105 51477 51478 5168 5290 5291 5293 5294 5319 5320 5321 5337 55454 55600 55790 5621 5648 56848 56963 57126 5716 57214 5743 6382 6401 6403 64386 6470 6489 65078 6517 6609 6614 6646 684 6888 7086 7087 7099 7124 7167 7412 79154 7941 81035 81890 821 8398 847 8482 8630 8794 8809 8821 8877 8879 9023 912 929 9331 9334 9365 9370 9374 9420 952 9536 9563 960 962 972	Homo sapiens (human)
DOID:13507	trigonitis	CAT IMPA1 MBL2 NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2	10724 3612 4153 4669 5290 5291 5293 5294 5563 5743 847	Homo sapiens (human)
DOID:3301	gonadoblastoma	CAT PGD	5226 847	Homo sapiens (human)
DOID:2945	severe acute respiratory syndrome Aliases: SARS SARS-CoV infection	ABO ACE BST2 CALR CD14 CD209 FCER2 IL18R1 IL1R1 MASP2 MBL2 PI4KB SULT1E1 TLR2 TNF	10747 1636 2208 28 30835 3554 4153 5298 6783 684 7097 7124 811 8809 929	Homo sapiens (human)
DOID:11661	blue color blindness Aliases: Tritan defect Tritanopia	ACO2 CA4 CACNA2D4 ELOVL4 G6PD HS6ST1 MBD4 NYX PCYT1A SDHC STS	2539 412 50 5130 60506 6391 6785 762 8930 93589 9394	Homo sapiens (human)
DOID:8584	Burkitt lymphoma Aliases: Burkitt lymphoma/leukaemia Burkitt's Lymphoma Burkitt's tumor Burkitt's tumor or lymphoma malignant lymphoma, Burkitt's type small Non-Cleaved cell Lymphoma, Burkitt's type	A4GALT ACE AKR1B10 ALOX5 BST1 BST2 CALR CAT CD22 CD33 CD38 CD44 CEACAM6 COG1 CYP1A1 CYP2E1 ENO1 FCER2 FCGR3B FCN2 FH FUT4 G6PD GAPDH GBA1 GLB1 HK2 HPGDS ICAM1 IDH2 IL18R1 IL18RAP INPP5D KL KLRK1 LGALS1 LGALS3 LGALS4 LGALS9 LTA4H LYZ MASP2 MBL2 MCAT MICA NAAA NAGLU NAMPT NCAM1 PARP1 PC PGAP1 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G4A PLCG2 PTEN PTGS2 RPN1 SDC1 SELL SELP SHMT1 SIRT4 SMC3 SMUG1 SOAT1	100507436 10135 10747 142 1543 1571 1636 2023 2208 2215 2220 2271 22914 23409 23583 240 2526 2539 2597 2629 27163 2720 27306 27349 3099 3383 3418 3635 3956 3958 3960 3965 4048 4069 4153 4669 4680 4684 5091 5277 5290 5291 5293 5294 5305 5321 5336 53947 57016 5728 5743 6184 6382 6402 6403 6470 6646 683 684 80055 811 847 8807 8809 9126 933 9365 9382 945 952 960	Homo sapiens (human)
DOID:0110738	neurodegeneration with brain iron accumulation 4 Aliases: MPAN Mitochondrial Protein-Associated Neurodegeneration NBIA due to C19orf12 mutation NBIA4 Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegeneration with brain iron accumulation type 4	AKR1B10 PLA2G1B PLA2G6 PLB1	151056 5319 57016 8398	Homo sapiens (human)
DOID:10316	pneumoconiosis	ACAN CAT GAD1 HS3ST6 PTGS2	176 2571 5743 64711 847	Homo sapiens (human)
DOID:9280	carbamoyl phosphate synthetase I deficiency disease Aliases: CPS I deficiency	CAT GLUL PTEN UMPS	2752 5728 7372 847	Homo sapiens (human)
DOID:8577	ulcerative colitis Aliases: Left-sided ulcerative colitis	ABO ACACA ACAT1 ACAT2 ACE ACHE ACO2 ACSBG1 ACSM3 ACSS2 ADIPOQ AGA AKR1B10 ALDH5A1 ALDOB ALOX12 ALOX5 ALPI ALPP AMACR AMT AMY1A AMY1B AMY1C ARSA ATP6V0A2 B3GAT1 BCKDHA CAT CBR1 CD14 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CHGA CHI3L1 CHPT1 CHST15 CHST2 CLEC10A CLEC12A CLEC16A CLEC7A CTBS CYP19A1 CYP1A1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP4F3 CYP7B1 DAG1 DHDDS DLD DPEP1 EFNA5 ENO1 ENPP2 EPHX2 FADS1 FADS2 FASN FCGR3B FCN2 FCN3 FH FUT2 FUT3 FUT4 G6PC3 GAL3ST1 GAL3ST2 GALM GALNT2 GAPDH GLB1 GP2 GPX1 GPX2 GUSB HMMR HPGDS HPSE HSD11B2 ICAM1 ICAM2 IDH1 IDUA IGF2 IL18R1 IL18RAP IL1R1 IL1RL1 IL1RL2 INPP5D IPMK ISYNA1 ITLN1 KLRK1 LACC1 LCT LGALS1 LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 ME1 MGAT5 MGLL MICA MPG MTMR3 MUTYH NAAA NAMPT NEU1 NPL NT5E OGG1 PAFAH1B1 PARP1 PCYT1B PGAP3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PTEN PTGDS PTGS1 PTGS2 REG1B RFT1 SDC1 SELE SELL SELP SFTPD SGPP2 SLC35A1 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK1 ST6GALNAC1 SUCLA2 SULT1E1 TBXAS1 TIGAR TKT TNF TNFRSF10C TUSC3 UGT1A1 UGT1A7 ULBP1 UST VCAM1 VCAN VNN1 YDJC	100507436 10090 1012 10135 10462 1048 10559 10715 10747 10855 1087 1113 1116 11343 130367 130589 140733 142 144811 1462 1486 150223 151056 1543 1555 1557 1559 1571 1573 1576 1577 1588 1589 1591 1594 160364 1604 1605 1636 1738 175 1800 1946 2023 2053 2194 2215 2220 2271 229 22914 23205 23274 23545 23583 23600 23659 239 240 248 250 2524 2525 2526 253430 2590 2597 27087 27163 2720 27306 275 276 277 278 28 2813 2876 2877 2990 30835 31 3161 3291 3383 3384 3417 3425 3481 3554 3635 38 39 3938 3956 3958 3960 3965 3992 4023 4048 4051 4069 410 4153 4199 4249 43 4350 4595 4680 4758 4907 4968 50 5048 51363 51477 5168 5226 5290 5291 5293 5294 5315 5319 5320 5321 5336 54577 54658 55600 55808 55902 56994 57016 57103 5728 5730 5742 5743 593 5968 6296 6382 6401 6402 6403 64090 64116 6441 64581 6609 6646 6783 6916 7086 7124 7412 7915 7941 7991 79947 80329 80896 8398 8399 847 8529 8547 873 8794 8803 8807 8808 8809 8876 8877 8897 9173 91869 92579 929 93210 9370 9415 9420 9435 945 9468 9514 952 960 9663 972	Homo sapiens (human)
DOID:1798	pancreatic endocrine carcinoma Aliases: Islet cell carcinoma carcinoma of endocrine pancreas malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma	CEACAM5 CEACAM7 CHPT1 DHDDS	1048 1087 56994 79947	Homo sapiens (human)
DOID:0110304	autosomal dominant limb-girdle muscular dystrophy type 2 Aliases: LGMD1F autosomal dominant limb-girdle muscular dystrophy type 1F muscular dystrophy limb-girdle type 1F	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:8628	Hodgkin's lymphoma, lymphocytic depletion Aliases: Hodgkin lymphoma, lymphocyte depletion Hodgkin's disease, lymphocytic depletion Hodgkin's lymphocytic depletion of unspecified site Lymphocyte-Depleted Classical Hodgkin Lymphoma	ACE ACSBG1 ALG1 ALOX15 ALOX5 ANXA5 B3GAT1 CALR CD14 CD38 CD44 CDH13 CHI3L1 CLEC16A CYP2C9 CYP3A4 ENPP2 FCER2 FCGR3B FUT4 GAPDH GLO1 HABP4 HEXA HJV HPGDS HPSE ICAM1 ISYNA1 KDSR KL KLRK1 LGALS1 LGALS3 LGALS9 LIPC LPL LY6G6D LY75 MBL2 MICA MRC1 MUTYH NAAA NAMPT NCAM1 OGG1 OPCML PAFAH1B1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 RENBP SCD SDC1 SELL SIGLEC7 SIRT6 SMUG1 SOAT1 SPHK1 STS TM7SF2 UGT1A1	100507436 1012 10135 10855 1116 148738 1559 1576 1636 2208 2215 22914 22927 23205 23274 23583 240 246 2526 2531 2597 27036 27087 27163 27306 2739 3073 308 3383 3956 3958 3965 3990 4023 4065 412 4153 4360 4595 4684 4968 4978 5048 5091 51477 51548 5168 5290 5291 5293 5294 54658 56052 5728 5743 58530 5973 6319 6382 6402 6646 7108 811 8877 929 9365 952 960	Homo sapiens (human)
DOID:4766	embryoma Aliases: Blastoma	A4GALT A4GNT ABAT ABO ACACA ACACB ACADL ACADS ACAT1 ACE ACHE ACLY ACO1 ACO2 ACOT7 ACOT8 ACSBG1 ACSL3 ACSL4 ACSL5 ACSM3 ACSS1 ACSS2 ACSS3 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AGK AGPAT1 AGPAT2 AGPS AGRN AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDH9A1 ALDOA ALG2 ALG3 ALOX12 ALOX15 ALOX15B ALOX5 ALPI ALPL ALPP AMACR AMT AMY1A AMY1B AMY1C ANXA4 ANXA5 ANXA7 APRT ARSA ARSB ARSF ARSG ART1 ASAH1 ATP6AP2 B3GALNT2 B3GAT1 B3GNT3 B3GNT6 B4GALNT1 B4GALNT2 B4GALNT3 B4GALNT4 B4GALT1 B4GALT3 B4GALT5 BAAT BCKDHB BPHL BST1 BST2 C1GALT1 C1GALT1C1 CACNA2D1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CD109 CD14 CD177 CD1D CD209 CD22 CD248 CD33 CD38 CD44 CD48 CD55 CD74 CD93 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CERS1 CERS2 CERS4 CERS5 CERS6 CFC1 CHGA CHI3L1 CHIT1 CHKA CHPF2 CHPF CHPT1 CHST15 CHST3 CHSY1 CLC CLEC10A CLEC12A CLEC12B CLEC14A CLEC18B CLEC1B CLEC3A CLEC6A CLEC7A CMAS CNTN1 CNTN2 CNTN3 COMT CPM CPT1A CPT1B CPT1C CPT2 CRYBG3 CRYL1 CS CSPG4 CTSA CYB5R3 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP2U1 CYP3A4 CYP3A5 CYP3A7-CYP3A51P CYP3A7 CYP4A11 CYP4F2 CYP4F3 CYP51A1 CYP7B1 DAD1 DAG1 DBT DCN DEGS1 DGCR2 DGKA DGKB DGKD DGKE DGKZ DHCR24 DHDDS DHRS11 DLD DPEP1 DSE EBP ECHS1 EFNA1 EFNA2 EFNA5 ELOVL5 ENO1 ENO2 ENOSF1 ENPP1 ENPP2 ENPP3 EPHX2 EPM2A EXT1 EXTL1 FADS1 FADS2 FASN FBP1 FBXO17 FCGR3B FCN1 FCN2 FDFT1 FDPS FH FKTN FMOD FOLR1 FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT6 FUT8 FUT9 G6PC1 G6PC3 G6PD GAD1 GAD2 GAL3ST1 GALC GALNS GALNT11 GALNT12 GALNT14 GALNT2 GALNT3 GALNT5 GALNT6 GALNT7 GAPDH GAPDHS GAS1 GBA1 GBE1 GBGT1 GCK GCNT1 GCNT3 GCSH GDPD5 GFPT1 GFPT2 GFRA1 GGT1 GLB1 GLCE GLDC GLO1 GLUL GM2A GMDS GML GNPAT GNPTAB GOLPH3 GPAA1 GPAM GPC1 GPC2 GPC3 GPC6 GPD1 GPD2 GPI GPLD1 GPNMB GPX1 GPX2 GPX3 GPX7 GUSB HACD1 HADH HADHB HAO2 HAS1 HAS2 HEXA HK1 HK2 HKDC1 HMGCS2 HMMR HPGDS HPRT1 HPSE HS3ST1 HS3ST2 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B6 HSD17B7 HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 ICAM2 ICAM5 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1R1 IL1RAPL1 IMPA1 IMPA2 INPP1 INPP4A INPP4B INPP5D INPP5E INPPL1 ISYNA1 ITPKA ITPKB KHK KL KLB KLRB1 KLRC1 KLRD1 KLRK1 L1CAM LALBA LARGE2 LAYN LCT LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LIPG LPCAT1 LPIN1 LPL LSS LTA4H LY6K LY75 LYPD3 LYPD5 LYPLA1 M6PR MACROD1 MACROD2 MAG MAN2A1 MANEA MASP2 MBD4 MBL2 MCAT MCFD2 MDGA2 MDH1 MDH2 ME1 ME2 MELTF MGAM MGAT1 MGAT3 MGAT4A MGAT4B MGAT5 MGLL MICA MMP17 MMP25 MMUT MPG MPI MPPE1 MRC1 MSLN MSMO1 MTAP MTM1 MTMR3 MTMR7 MUTYH NAAA NAGA NAGLU NAMPT NANS NCAM1 NDST1 NDST4 NDUFAB1 NEIL1 NEIL2 NEIL3 NEU1 NEU3 NEU4 NGLY1 NT5E NTHL1 NTM NUDT5 OGA OGDH OGDHL OGG1 OGT OLR1 OPCML OVGP1 OXCT1 PAFAH1B1 PAFAH1B2 PAPSS1 PARG PARP14 PARP15 PARP1 PARP2 PARP3 PARP4 PARP6 PARP9 PC PCK1 PCK2 PCYT1A PCYT1B PCYT2 PDHA1 PDHX PDIA3 PFKFB2 PFKFB3 PFKFB4 PFKM PFKP PGAM1 PGAP2 PGD PGK1 PGM1 PGP PI4K2A PIGA PIGH PIGS PIGU PIGX PIK3C2A PIK3C2G PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PIP4K2B PIP4K2C PIP5K1B PIP5KL1 PISD PKD1 PKD2 PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G6 PLA2R1 PLAAT3 PLAUR PLB1 PLCB2 PLCB4 PLCD1 PLCE1 PLCG1 PLCG2 PLD1 PLD2 PLEKHA8 PLET1 PLOD3 PLPP1 PLPP2 PLPP3 PMM2 PNP PNPLA2 PNPLA3 PNPLA6 POGLUT1 POMT2 PPP1R3A PPP1R3B PPP1R3C PPT1 PPT2 PRG2 PRG3 PRKAA2 PRNP PRPS1 PRPS2 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES3 PTGES PTGS1 PTGS2 PYGB RECK RENBP RGMA RGMB RGN RPE RPN2 RTN4R SCD5 SCD SDC1 SDC2 SDC3 SDC4 SDHA SDHB SDHC SDHD SELE SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SGMS2 SGPL1 SGPP1 SGPP2 SGSH SHMT1 SHMT2 SI SIGLEC15 SIGLEC1 SIGLEC7 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC27A5 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35A2 SLC35G1 SLC37A4 SLC5A1 SMC3 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SORD SPAM1 SPHK1 SPHK2 SPTLC1 SQLE SRD5A1 SRD5A2 SRGN ST3GAL1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC1 ST6GALNAC2 ST6GALNAC5 ST8SIA2 ST8SIA3 ST8SIA4 STS SULF1 SULF2 SULT1E1 SUMF1 TDG TEX101 THEM4 TIGAR TIPARP TKT TKTL1 TKTL2 TM7SF2 TMED5 TMEM165 TMEM260 TNFRSF10C TNKS TPI1 TREH TUSC3 TYMP UGCG UGGT1 UGGT2 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2A1 UGT2B10 UGT2B17 UGT2B4 UGT2B7 UGT8 ULBP1 ULBP2 UMPS UNG UPP1 VCAM1 VCAN VNN1 VNN2 VTCN1 XYLT2	10005 10038 10039 100507436 10082 100861540 1012 10135 10143 10159 10195 10232 10327 10331 10394 1040 10434 10457 10462 1048 10554 10555 10558 10559 1056 10610 10682 10690 10715 10724 10728 10747 10825 10855 1087 10908 10941 10998 1109 1113 11141 11145 1116 11164 1118 11181 1119 11226 11227 11282 11320 11332 11343 113612 115290 117145 1178 120071 120227 124 124872 125 126 126129 127 1272 128 128869 129807 130 130367 131 1312 131544 135228 1368 1374 1375 1376 138429 140733 142 143 1431 143903 1462 1464 148789 151056 152831 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1579 1585 1586 1588 1591 1593 159371 1594 1595 1603 160364 1604 1605 1606 1607 161198 161357 1629 1634 1636 1645 1646 165631 166929 1718 1727 1738 18 1800 1836 1890 1892 192134 1942 1943 1946 200576 2023 2026 2053 2131 2134 217 218 2181 2182 2194 220 2203 2215 2218 2219 221914 2220 2222 2224 223 226 2271 22856 22901 22914 22918 22925 22933 231 23175 23205 23213 2331 23409 2348 2350 23583 23600 23659 23761 239 240 246 247 248 249 250 2517 2523 2524 2525 2526 2528 252969 2530 253782 2538 2539 2542 2571 2572 2581 2583 2588 2590 2591 259230 2597 25976 26035 2619 26279 2629 26301 2632 26330 2645 2650 26503 2653 2673 2674 2678 2683 27036 27076 27087 27163 27180 2719 2720 27306 2731 27315 27349 2739 275 2752 276 2760 2762 2765 277 278 28 2817 2819 2820 2821 2822 283358 283871 284266 284348 285362 285704 2876 2877 2878 2882 28992 29071 2923 2990 29940 29954 29956 3032 3033 3036 3037 307 3073 308 30835 3098 3099 31 310 3158 3161 32 3251 3290 3291 3292 3294 33 3339 3340 3373 3383 3384 338707 3417 3418 3423 3425 3482 349633 35 353 3554 3612 3613 3628 3631 3635 3636 3706 3707 375790 3795 38 3820 3821 3824 387837 3897 3906 3938 3939 3945 3948 3956 3958 3960 3964 3965 3990 3992 4023 4047 4048 4051 4065 4074 4099 410 411 412 4124 4153 416 417 4190 4191 4199 4200 4241 4245 4248 4249 427 43 4326 4350 4351 4360 4507 4534 4594 4595 4668 4669 4680 4684 47 4706 4758 48 4860 4907 4913 4967 4968 497190 4973 4978 50 501 5016 5019 5048 50487 5049 5067 50863 5091 50999 51046 5105 5106 51084 51144 51146 51179 51196 51266 5130 51363 51477 51478 51548 5160 5167 5168 5169 51703 51809 5208 5209 5210 5213 5214 5223 5226 5230 5236 5277 5283 5286 5288 5289 5290 5291 5293 5294 5310 5311 5315 5319 5320 5321 5329 5330 5332 5333 5335 5336 5337 5338 5373 53947 54187 54480 54575 54576 54577 54578 54579 54600 54625 54657 54658 54659 54742 5476 54916 54965 5506 5507 55247 55361 5538 55512 5552 5553 55556 5563 55750 55753 55757 55768 55799 55808 55858 55902 55907 55959 55997 5621 5631 5634 5652 5660 56623 56848 56886 56913 56963 56965 56983 56994 570 57016 57103 57104 57124 57126 5716 57214 5728 5730 5742 5743 57678 5833 5834 594 5973 60481 6120 6185 6296 6307 6319 6382 6383 6385 6389 6390 6391 63917 6392 6401 6402 6403 64083 64132 64386 6440 6441 6448 64579 64581 6470 6472 6476 6480 6482 6484 6487 65078 6514 6515 6517 6518 6523 65258 653509 6609 6610 6614 6646 6652 6677 670 6713 6715 6716 6783 683 684 6900 6996 7086 7087 7108 7167 729238 7355 7357 7363 7364 7365 7367 7368 7372 7374 7378 7412 781 7903 79154 79158 7957 79586 79603 79611 79623 79660 79661 79679 79694 79695 79837 79888 7991 79947 79966 80201 80328 80329 80339 8050 811 8128 81537 81544 81849 821 8277 83639 83666 8372 8395 8396 8398 8399 84076 8434 8443 84532 847 84725 8473 8482 8505 8525 8526 8527 8529 85365 8540 8560 8611 8612 8613 8630 8644 8658 8692 8703 873 8733 8794 8809 8821 8875 8876 8877 8879 8897 8930 8972 8985 90411 9061 91012 9104 9108 912 9126 9197 9200 9245 9254 92579 929 933 9334 9365 9374 9388 93978 94005 9415 9420 945 9468 9469 9514 952 9536 960 962 9672 972 98 9945 9956 9957 9993	Homo sapiens (human)
DOID:1712	aortic valve stenosis Aliases: Aortic stenosis Rheumatic aortic stenosis rheumatic aortic valve stenosis	ACAN ACE ALOX5 ARSD ATP6AP2 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CD14 CD44 CHST3 CTSA CYP11B2 CYP24A1 EBP ENO3 ENPP1 FCGR3B FH GAPDH GLB1 GNPTG ICAM1 IDUA KL LGALS3 LGALS4 MPG NT5E OGA OGT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PLPP3 PSAP PTDSS1 SDC1 SDC4 SLC2A10 STS TNF	10159 10682 10724 11285 126792 1585 1591 1636 176 2027 2215 2271 23545 240 2597 26229 2720 3383 3425 3958 3960 412 414 4350 4907 5167 5290 5291 5293 5294 5476 5660 6382 6385 7124 7941 81031 84572 8473 8613 929 9365 9469 960 9791	Homo sapiens (human)

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