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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 **7676 - 7700** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:10603	glucose intolerance Aliases: Glucose malabsorption Malabsorption of glucose	ABO ACE ACOT7 ADH1C ALDH2 AMY2A APRT CAT CBR1 CD14 CERS6 CHI3L1 CLEC16A COMT COQ2 CYB5R4 CYP19A1 CYP1B1 DCN DDOST DGAT1 ENPP1 FCGR3B G6PC1 G6PC2 G6PD GAD1 GAD2 GBA1 GCK GGT1 HK2 HSD11B1 HSD11B2 ICAM1 IL1R1 INPPL1 L1CAM LEP LEPR LGALS3 LIPC LPIN1 LPL MBL2 MOGAT2 NAMPT NEIL1 NEU1 OGA OLR1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLB1 PLCB1 PNPLA2 PNPLA3 PPP1R3A PRKAA2 PTGES2 RTN4R SCD SGPL1 SI SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC2A4 SLC35A1 SLC5A1 SOAT1 SRGN UMOD VCAM1	10135 10559 10724 1116 11332 126 1312 151056 1545 1588 1634 1636 1650 217 2215 22933 23175 23236 23274 253782 2538 2539 2571 2572 2629 2645 26503 2678 27235 279 28 283871 3099 3290 3291 3383 353 3554 3636 3897 3952 3953 3958 3990 4023 4153 4758 4973 51167 51548 5167 5290 5291 5293 5294 5315 5506 5552 5563 57104 57818 6319 6476 65078 6514 6515 6517 6523 6646 7369 7412 79661 80142 80168 80339 847 8694 873 8879 929	Homo sapiens (human)
DOID:150	disease of mental health	ABO ACE ACOT7 ACSL4 ACSL6 ACSS2 ALDH2 ALDH7A1 ARSA ARSD B3GAT1 CACNA2D4 CD22 CDH13 CHAT CHI3L1 CNTN4 COMT CYP21A2 CYP2B6 CYP2C19 CYP3A5 DEGS1 DEGS2 DGKH DGKK EXT1 G6PD GAD1 GAD2 GALNS GLUL GNPAT HSD11B1 HSD17B12 HSPG2 ICAM1 IDH1 IDUA INPP5K ISYNA1 MACROD2 MAG MANEA MGAT1 MICA NCAM1 PI4K2B PI4KA PIGL PIK3C2A PIP4K2A PLA2G15 PTEN PTGDS PTGS2 RGMA SDC2 SMPD1 SMUG1 SPTLC1 SRGN ST8SIA2 TMTC1	100507436 1012 10558 1103 1116 11332 123099 1312 139189 140733 152330 1555 1557 1577 1589 160851 1636 2131 217 2182 23305 23583 23659 2539 2571 2572 2588 27087 2752 28 3290 3339 3383 3417 3425 4099 410 414 4245 4684 501 51144 51477 51763 5286 5297 5305 55300 5552 55902 56963 5728 5730 5743 6383 6609 79694 8128 83857 8443 8560 933 93589 9487	Homo sapiens (human)
DOID:0050830	peripheral artery disease	ABO ACE ACOD1 ACSS2 ADIPOQ ALDH7A1 ARSA CD14 CHI3L1 CNTN3 CS CYP1A2 CYP2B6 ENPP1 IL1RL1 LGALS3 LIPC LPL NPY1R PCYT1A PLA2G15 PLA2G7 PTGS1 PTGS2 SELP SFTPD SLC2A10 SRD5A1 SRD5A2 SULT1E1 UGDH UGT1A1 VCAM1	1116 1431 1544 1555 1636 23659 28 3958 3990 4023 410 4886 501 5067 5130 5167 54658 55902 5742 5743 6403 6441 6715 6716 6783 730249 7358 7412 7941 81031 9173 929 9370	Homo sapiens (human)
DOID:2361	macrocytic anemia Aliases: ANEMIA MACROCYTIC Macrocytic anaemia	ABO ACE ACO1 ACSM3 ADH1B AGXT AKR1C4 ALDH2 ALG8 ALOX5 ALPL ARSA B3GLCT CACNA2D3 CALR CAT CD55 CEACAM5 CHI3L1 COG1 COG6 CRPPA CYP1B1 CYP2C8 ECHS1 ENO1 ENPP1 EXT2 FCGR3B FUT1 FUT2 FUT3 G6PC1 G6PC3 G6PD GBA1 GLA GNPTAB GPI GPX1 HK1 HMGCL HPRT1 HPSE ICAM1 IDH1 IDH2 IDUA KL LCAT LIPA LPIN2 MBL2 MMUT MPG NAAA NCAM1 OCRL PARP1 PCCA PCCB PDHA1 PFKM PGAM1 PGK1 PI4KA PIK3CA PKLR PNP PSAP PTEN PTGS2 SCD SDHA SDHB SDHC SFTPA1 SHMT2 SIGLEC1 SLC17A5 SLC39A8 SOAT1 TALDO1 TBXAS1 TMED3 UGCG UGT1A1 UMPS	1048 10855 1109 1116 125 142 145173 1545 1558 1604 1636 189 1892 2023 2132 217 2215 23423 240 249 2523 2524 2525 2538 2539 2629 26503 27163 2717 28 2821 2876 3098 3155 3251 3383 3417 3418 3425 3931 3988 410 4153 4350 4594 4684 48 4860 4952 5095 5096 5160 5167 5213 5223 5230 5290 5297 5313 54658 55799 5660 5728 5743 57511 6296 6319 6389 6390 6391 64116 6472 653509 6614 6646 6888 6916 729920 7357 7372 79053 79158 811 847 92579 9365 9382 9663	Homo sapiens (human)
DOID:2355	anemia Aliases: anaemia	ABO ACE ACO1 ACSM3 ADH1B AGXT AKR1C4 ALDH2 ALG8 ALOX5 ALPL ARSA B3GLCT CACNA2D3 CALR CAT CD55 CEACAM5 CHI3L1 COG1 COG6 CRPPA CYP1B1 CYP2C8 ECHS1 ENO1 ENPP1 EXT2 FCGR3B FUT1 FUT2 FUT3 G6PC1 G6PC3 G6PD GBA1 GLA GNPTAB GPI GPX1 HK1 HMGCL HPRT1 HPSE ICAM1 IDH1 IDH2 IDUA KL LCAT LIPA LPIN2 MBL2 MMUT MPG NAAA NCAM1 OCRL PARP1 PCCA PCCB PDHA1 PFKM PGAM1 PGK1 PI4KA PIK3CA PKLR PNP PSAP PTEN PTGS2 SCD SDHA SDHB SDHC SFTPA1 SHMT2 SIGLEC1 SLC17A5 SLC39A8 SOAT1 TALDO1 TBXAS1 TMED3 TNF UGCG UGT1A1 UMPS VCAM1	1048 10855 1109 1116 125 142 145173 1545 1558 1604 1636 189 1892 2023 2132 217 2215 23423 240 249 2523 2524 2525 2538 2539 2629 26503 27163 2717 28 2821 2876 3098 3155 3251 3383 3417 3418 3425 3931 3988 410 4153 4350 4594 4684 48 4860 4952 5095 5096 5160 5167 5213 5223 5230 5290 5297 5313 54658 55799 5660 5728 5743 57511 6296 6319 6389 6390 6391 64116 6472 653509 6614 6646 6888 6916 7124 729920 7357 7372 7412 79053 79158 811 847 92579 9365 9382 9663	Homo sapiens (human)
DOID:1749	squamous cell carcinoma Aliases: epidermoid carcinoma malignant squamous cell tumor squamous carcinoma squamous cell Epithelioma squamous cell cancer	ABO ACE ACLY ADH1B ADH1C ADH4 ADH5 ADH7 AGK AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKR1C3 ALDH2 ALDH7A1 ALOX12 ALOX12B AMACR ANXA5 ANXA9 ARSF ART1 ATRN B3GAT1 CALR CAT CD109 CD248 CD33 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS6 CHGA CHI3L1 CHKA CHPT1 CLEC10A CNTN1 COMT CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP2J2 CYP2R1 CYP3A5 CYP4F3 DAG1 DCN DGKA DHDDS DPAGT1 EBP EFNA1 ENO1 ENO2 FASN FBP1 FCER2 FCGR3B FDPS FOLR2 FUCA1 FUT1 FUT4 GALC GALNT2 GALNT3 GGT1 GPAA1 GPC1 GPC3 GPNMB GPX1 HAS2 HK1 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 HSD17B1 HSPG2 HYAL1 HYAL2 ICAM1 ICAM5 IDH1 IGF2R INPP5A KL KLRK1 L1CAM LDHB LGALS1 LGALS3 LGALS8 LGALS9 LIPA LSS LTA4H LY6K LYPD3 LYPD5 MASP1 MCAT ME1 MGAM MGLL MICA MRC1 MTAP NAMPT NANS NCAM1 NEIL1 NEIL2 NT5E NTHL1 OGG1 PARP1 PCYT1A PDIA3 PFKFB3 PGAM1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLAUR PLCD1 PLCE1 PLCG1 PLCH1 PLD2 PLPP2 PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RTN4R SDC1 SDC2 SELE SFTPA1 SFTPA2 SFTPD SGPP1 SHMT1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC5A1 SMUG1 SOAT1 SPAM1 ST3GAL4 ST6GAL1 ST8SIA4 STS SULF2 TALDO1 TKTL1 TNKS2 TP53 TPI1 TUSC3 TYMP UGT1A10 UGT1A1 UGT1A7 UGT1A9 UMPS UNG UPP2 VCAM1 VTCN1	100507436 1012 10135 10327 10457 10462 1048 10682 10855 1087 1113 1116 1119 11343 120227 125 126 127 1272 128 131 1312 135228 142 151531 1543 1544 1545 1555 1557 1558 1571 1573 1577 1591 1594 1605 1606 1634 1636 1645 1646 1798 1890 1942 2023 2026 217 2194 2203 2208 2215 2224 22914 22933 23007 23409 2350 23583 23600 239 242 2517 2523 2526 252969 253782 2581 2590 2591 2678 27036 27076 27087 2719 27306 27349 28 2817 283871 284348 2876 2923 3037 308 3098 3099 3161 3292 3339 3373 3383 3417 3482 3632 3897 3945 3956 3958 3964 3965 3988 4047 4048 4051 412 416 417 4199 4360 4507 4680 4684 47 4907 4913 4968 501 51196 5130 51548 5209 5223 5226 5290 5291 5293 5294 5315 5321 5329 5333 5335 5338 54187 54575 54577 54600 54658 54742 5563 55750 55959 5621 5648 56994 57016 57124 5716 5728 5730 5740 5742 5743 5968 60495 6382 6383 6401 6441 6470 6480 6484 65078 6514 6515 6517 6523 653509 6646 6677 6888 7087 7157 7167 729238 7372 7374 7412 7903 79661 79679 7991 79947 80351 811 81537 8277 8416 8434 8455 847 8612 8644 8692 8733 8972 9365 945 9536 960 972 9956	Homo sapiens (human)
DOID:0050865	tongue squamous cell carcinoma	ABO ACE ACLY ADH1B ADH1C ADH4 ADH5 ADH7 ADIPOQ AGK AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKR1C3 ALDH2 ALDH7A1 ALOX12 ALOX12B AMACR ANXA5 ANXA9 ARSF ART1 ATRN B3GAT1 CALR CAT CBR1 CD109 CD248 CD33 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS6 CHGA CHI3L1 CHKA CLEC10A CNTN1 COMT CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP2J2 CYP2R1 CYP3A5 CYP4F3 DAG1 DCN DGKA DPAGT1 EBP EFNA1 ENO1 ENO2 FASN FBP1 FCER2 FCGR3B FDPS FOLR2 FUCA1 FUT1 FUT4 GALC GALNT2 GALNT3 GGT1 GPAA1 GPC1 GPC3 GPNMB GPX1 HAS2 HK1 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 HSD17B1 HSPG2 HYAL1 HYAL2 ICAM1 ICAM5 IDH1 IGF2R IL1RL1 INPP5A ISYNA1 KL KLRK1 L1CAM LDHB LGALS1 LGALS3 LGALS8 LGALS9 LIPA LSS LTA4H LY6K LYPD3 LYPD5 MASP1 MCAT ME1 MGAM MGLL MICA MRC1 MTAP NAMPT NANS NCAM1 NEIL1 NEIL2 NT5E NTHL1 OGG1 PARP1 PCYT1A PDIA3 PFKFB3 PGAM1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLAUR PLCD1 PLCE1 PLCG1 PLCH1 PLD2 PLPP2 PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RTN4R SDC1 SDC2 SELE SFTPA1 SFTPA2 SFTPD SGPP1 SHMT1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC3A2 SLC5A1 SMUG1 SOAT1 SPAM1 ST3GAL4 ST6GAL1 ST8SIA4 STS SULF2 TALDO1 TKTL1 TNFRSF10C TNKS2 TP53 TPI1 TUSC3 TYMP UGT1A10 UGT1A1 UGT1A7 UGT1A9 UMPS UNG UPP2 VCAM1 VTCN1	100507436 1012 10135 10327 10457 10462 1048 10682 10855 1087 1113 1116 1119 11343 120227 125 126 127 1272 128 131 1312 135228 142 151531 1543 1544 1545 1555 1557 1558 1571 1573 1577 1591 1594 1605 1606 1634 1636 1645 1646 1798 1890 1942 2023 2026 217 2194 2203 2208 2215 2224 22914 22933 23007 23409 2350 23583 23600 239 242 2517 2523 2526 252969 253782 2581 2590 2591 2678 27036 27076 27087 2719 27306 27349 28 2817 283871 284348 2876 2923 3037 308 3098 3099 3161 3292 3339 3373 3383 3417 3482 3632 3897 3945 3956 3958 3964 3965 3988 4047 4048 4051 412 416 417 4199 4360 4507 4680 4684 47 4907 4913 4968 501 51196 5130 51477 51548 5209 5223 5226 5290 5291 5293 5294 5315 5321 5329 5333 5335 5338 54187 54575 54577 54600 54658 54742 5563 55750 55959 5621 5648 57016 57124 5716 5728 5730 5740 5742 5743 5968 60495 6382 6383 6401 6441 6470 6480 6484 65078 6514 6515 6517 6520 6523 653509 6646 6677 6888 7087 7157 7167 729238 7372 7374 7412 7903 79661 79679 7991 80351 811 81537 8277 8416 8434 8455 847 8612 8644 8692 873 8733 8794 8972 9173 9365 9370 945 9536 960 972 9956	Homo sapiens (human)
DOID:7693	abdominal aortic aneurysm Aliases: AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1	ABO ACE ACLY ACSS2 ALOX5 APRT ARSA ARSI CAT CD14 CD1D CD22 CD44 CNTN3 CTSA CYP19A1 CYP2J2 DCN EFNA5 FCGR3B FCN3 HPSE ICAM1 ICAM2 IL18R1 IL1R1 LGALS3 LTA4H LTC4S MBD4 MCAT PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G15 PLA2G7 PRKAA2 PTEN PTGES PTGS2 RECK RENBP SELL SLC33A1 SMUG1 SRD5A1 TM7SF2 VCAM1 VCAN XYLT1	10855 142 1462 1573 1588 1634 1636 1946 2215 23583 23659 240 27349 28 3383 3384 340075 353 3554 3958 4048 4056 410 47 5067 5130 5290 5291 5293 5294 5476 5563 55902 5728 5743 5973 6402 64131 6715 7108 7412 7941 8399 8434 847 8547 8809 8930 912 9197 929 933 9536 960	Homo sapiens (human)
DOID:850	lung disease	ABO ACE ACLY ACOD1 ALDH2 ALDH7A1 ALOX5 APEX1 ARSA ATP6V0A2 BST1 CALR CAT CD14 CD1D CD44 CD55 CEACAM5 CEACAM6 CEACAM7 CEL CHGA CHI3L1 CHIT1 CNTN2 CYP1A1 CYP27B1 CYP2C9 DCN DGKA DHCR24 DLD ENO1 ENO2 FCN2 FUT3 GLA GOLPH3 GPX1 GPX3 HMMR HPGDS ICAM1 IGF2R IL18R1 IL1RL1 ISYNA1 LDHC LGALS3 LGALS9 LTC4S MBL2 NAMPT NTM PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLCB3 PTEN PTGS1 PTGS2 RECK RENBP RGMA SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 SMUG1 SPHK2 TLR2 TLR4 TNF VCAN	10135 1048 1056 1087 10998 1113 1116 1118 1462 1543 1559 1594 1604 1606 1634 1636 1718 1738 2023 2026 217 2220 23545 23583 240 2525 2717 27306 28 2876 2878 3161 328 3383 3482 3948 3958 3965 4056 410 4153 4680 47 501 50863 51477 5290 5291 5293 5294 5320 5331 56848 56963 5728 5742 5743 5973 64083 6440 6441 653509 683 6900 7097 7099 7124 729238 730249 811 83666 8434 847 8809 912 9173 929 960	Homo sapiens (human)
DOID:12140	Chagas disease Aliases: Chagas' disease chagas' disease with digestive system involvement chagas' disease with nervous system involvement chagas' disease with other organ involvement	ABO ACE ACHE ALOX5 CALR COLEC11 CYP2B6 CYP51A1 FCN2 FDPS G6PD GCK GLUL LGALS3 LGALS9 MASP2 MBL2 NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PLCB4 PNP PRG2 PTGS2 RPIA SDC4 SIRT2 SMPD1 SOAT1 STS TPI1	10747 142 1555 1595 1636 2220 2224 22933 22934 23236 240 2539 2645 2752 28 3958 3965 412 4153 43 4860 4907 5290 5291 5293 5294 5332 5553 5743 6385 6609 6646 7167 78989 811	Homo sapiens (human)
DOID:12306	vitiligo	ABO ACE ACHE ALOX12 C1GALT1C1 CALR3 CALR CANX CAT CBR1 CD44 COMT CYP21A2 FADS1 FADS2 G6PD GPX1 HPGDS ICAM1 IL1RAPL1 ISYNA1 KLRC1 MBL2 NEU1 PARP12 PARP1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PLCB3 PLCG2 PRNP PTGS2 SOAT1 TLR2 TLR4 TNF	11141 125972 1312 142 1589 1636 239 2539 27306 28 283871 2876 29071 3383 3821 3992 4153 43 4758 51477 5226 5290 5291 5293 5294 5331 5336 5621 5743 64761 6646 7097 7099 7124 811 821 847 873 9415 960	Homo sapiens (human)
DOID:11504	autonomic neuropathy	ABO ACE ACHE ALDH3A2 ARSA B4GALNT1 BST2 CACNA2D2 CD1D CDH13 CHI3L1 COL9A2 COMT CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 DEGS1 DLD ELOVL4 ENO2 ENPP2 FCN2 GAD1 GAD2 GBA1 GBA2 GCDH GLUL GOLPH3 GPI GPX1 GUSB HK1 HPGDS HPRT1 IDH3A IDS INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MGLL NAGA NCAM1 NCAN NEU3 OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 SARM1 SEMA7A SHMT1 SIGLEC7 SIRT2 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 TMED9 TPI1	1012 10558 10724 10825 10908 1116 11343 1298 1312 142 1463 149175 151056 1544 1555 1558 1559 1593 1636 1727 1738 2026 2220 224 22933 23098 23583 2571 2572 2583 2629 2639 27036 27306 2752 28 2821 283871 284098 2876 2990 3098 3251 3419 3423 3636 3897 4069 4099 410 4126 43 4668 4684 4860 4967 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 64083 64116 6470 6517 6609 6785 684 7167 7903 8398 8399 8482 8560 8803 912 9254 9365	Homo sapiens (human)
DOID:0050635	alternating hemiplegia of childhood Aliases: AHC	ABO ACE ACHE ALDH3A2 ARSA ATP1A2 B4GALNT1 BST2 CACNA2D2 CD1D CDH13 CHI3L1 COL9A2 COMT CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 DEGS1 DLD ELOVL4 ENO2 ENPP2 FCN2 GAD1 GAD2 GBA1 GBA2 GCDH GLUL GOLPH3 GPI GPX1 GUSB HK1 HPGDS HPRT1 IDH3A IDS INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MGLL NAGA NCAM1 NCAN NEU3 OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 SARM1 SEMA7A SHMT1 SIGLEC7 SIRT2 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 TMED9 TPI1	1012 10558 10724 10825 10908 1116 11343 1298 1312 142 1463 149175 151056 1544 1555 1558 1559 1593 1636 1727 1738 2026 2220 224 22933 23098 23583 2571 2572 2583 2629 2639 27036 27306 2752 28 2821 283871 284098 2876 2990 3098 3251 3419 3423 3636 3897 4069 4099 410 4126 43 4668 4684 477 4860 4967 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 64083 64116 6470 6517 6609 6785 684 7167 7903 8398 8399 8482 8560 8803 912 9254 9365	Homo sapiens (human)
DOID:863	nervous system disease	ABO ACE ACHE ALDH3A2 ALDH7A1 ARSA ARSB ATP1A2 B4GALNT1 BST2 CACNA2D2 CD1D CD38 CD44 CDH13 CH25H CHAT CHI3L1 COL9A2 COMT CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 CYP3A4 DEGS1 DLD EBP ECHS1 ELOVL4 ENO2 ENPP2 FCN2 GAD1 GAD2 GBA1 GBA2 GCDH GLB1 GLUL GOLPH3 GPI GPX1 GUSB HK1 HPGDS HPRT1 ICAM1 IDH2 IDH3A IDS IDUA INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MBL2 MGAT1 MGLL NAGA NCAM1 NCAN NEU3 NYX OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 RTN4R SARM1 SEMA7A SGSH SHMT1 SIGLEC7 SIRT2 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 TMED9 TPI1	1012 10558 10682 10724 10825 10908 1103 1116 11343 1298 1312 142 1463 149175 151056 1544 1555 1558 1559 1576 1593 1636 1727 1738 1892 2026 2220 224 22933 23098 23583 2571 2572 2583 2629 2639 27036 2720 27306 2752 28 2821 283871 284098 2876 2990 3098 3251 3383 3418 3419 3423 3425 3636 3897 4069 4099 410 411 4126 4153 4245 43 4668 4684 477 4860 4967 501 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 60506 64083 64116 6448 6470 65078 6517 6609 6785 684 7167 7903 8398 8399 8482 8560 8803 9023 912 9254 9365 952 960	Homo sapiens (human)
DOID:7757	childhood leukemia	ABO ACE ACHE AKR1C3 AKR1C4 ALOX5 ALPI ALPP ANXA7 APRT ARSH B3GAT1 B4GALT1 BPHL BST2 CALR CD14 CD1D CD22 CD33 CD38 CD44 CD48 CH25H CHI3L1 CLEC12A CNTN2 CSPG4 CYP1A1 CYP1B1 CYP2B6 CYP2E1 CYP3A5 DAG1 DGKA DLD EBP ENO2 ENOSF1 EXT1 FCER2 FCGR3B FMOD FUT1 FUT3 FUT4 G6PD GLB1 GPI GPX3 HK1 HK2 HMMR HPGDS HPRT1 HSD11B2 ICAM1 IDH1 IDH2 IL18R1 IL1R1 IL1RL1 INPP4B INPP5D KLRK1 LDHA LGALS1 LGALS3 LYZ MACROD1 MICA MRC1 MSLN NAMPT NCAM1 NT5E PAFAH1B1 PARG PARP1 PARP4 PGD PGP PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKM PLA2R1 POGLUT1 PRKAA2 PTEN PTGS1 PTGS2 RPN1 RTN4R SELE SELL SHMT1 SIGLEC10 SIGLEC1 SIRT6 SLC39A8 SMPD2 SOAT1 ST8SIA4 TALDO1 TIGAR TNFRSF10C UGCG ULBP2 UMOD UNG VCAM1 VTCN1	100507436 10135 10232 10682 1109 1116 142 143 1464 1543 1545 1555 1571 1577 160364 1605 1606 1636 1738 2026 2131 2208 2215 22914 22925 2331 240 248 250 2523 2525 2526 2539 2683 27087 2720 27306 28 2821 283871 2878 28992 3098 3099 310 3161 3251 3291 3383 3417 3418 347527 353 3554 3635 3939 3956 3958 4069 43 4360 4684 4907 5048 51548 5226 5290 5291 5293 5294 5305 5315 55300 55556 5563 56983 57103 5728 5742 5743 6184 6401 6402 64116 6470 65078 6610 6614 6646 670 684 6888 6900 7357 7369 7374 7412 7903 79679 80328 811 8505 8644 8794 8809 8821 89790 9023 912 9173 929 933 945 952 960 962	Homo sapiens (human)
DOID:11476	osteoporosis	ABO ACE ACHE AGPAT2 AKR1A1 AKR1B1 AKR1C4 AKR1D1 ALDH2 ALDH7A1 ALOX12 ALOX15 ALPL ALPP ARSA ASAH1 ATRNL1 B3GALT6 B3GAT3 CAT CD14 CD38 CD44 CHST3 CLC COMT CPT1A CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP3A4 DDOST DGCR2 DPEP1 ENO1 ENPP1 EXT1 FASN FDPS G6PC1 GALNS GALNT3 GALT GAPDH GK GLB1 GLO1 GPAA1 GPC6 GPD2 GPLD1 GPNMB GPX1 HJV HPGDS HPRT1 HPSE HS6ST1 HSD11B1 HSD11B2 HSD17B1 HSD17B2 HSD17B4 HSD3B2 HSD3B7 HSPG2 ICAM1 IDH2 IDUA IGF2 INPP4B IRS2 ITLN1 KL LCT LEP LEPR LGALS8 LRP5 MAPK14 MBL2 MGLL MMP17 NAMPT NDUFAB1 NGLY1 OXCT1 PCCA PCCB PCNA PGLS PIGT PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1B PKM PLCG2 PMM2 PNP PRKAA2 PTEN SGMS2 SIGLEC15 SIRT2 SIRT6 SLC26A2 SLC37A4 SMPD1 SMUG1 SOAT1 ST3GAL4 TM7SF2 TMEM165 TPI1 UGT2B17 UMOD VCAM1 XXYLT1 XYLT2	10082 10135 10327 10457 10555 10855 1109 11343 1178 126792 1312 1374 1432 148738 152002 1543 1545 1555 1576 1583 1584 1586 1588 1591 1593 1594 1636 1650 166929 1800 1836 2023 2131 217 2194 2224 22933 231 23583 239 246 249 250 2538 2542 25796 2588 2591 2592 2597 26033 26229 2710 2720 27306 2739 28 2820 2822 284266 2876 3251 3284 3290 3291 3292 3294 3295 3339 3383 3418 3425 3481 3938 3952 3953 3964 4041 410 4153 427 43 4326 4706 4860 501 5019 5095 5096 5111 51548 51604 5167 5290 5291 5293 5294 5315 5336 5373 55600 5563 55768 55858 5728 64132 6484 6609 6646 6718 7108 7167 7367 7369 7412 80270 8395 847 8660 8733 8821 929 9365 9394 9469 952 960 9993	Homo sapiens (human)
DOID:13378	Kawasaki disease Aliases: Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome	ABO ACE ACHE ADIPOQ AMACR ATP6AP2 CAT CD14 CD177 CD209 CEACAM5 CERS6 CHI3L1 CLEC6A CLEC7A CYP2C9 CYP2E1 FCER2 FCGR3B FCN1 FUT1 GAPDH GLB1 HSD11B2 ICAM1 IL1R1 IL1RAP ITPKC KLRC1 KLRK1 LDHA MBL2 MDGA1 NCAM1 OLR1 PGK1 PLA2G7 PLCB1 PLCB4 PTGS2 SDC1 SELE SELP SLC35F5 ST6GAL1 STS TLR4 TNF ULBP1 VCAM1	10159 1048 1116 1559 1571 1636 2208 2215 2219 22914 23236 23600 2523 253782 2597 266727 2720 28 30835 3291 3383 3554 3556 3821 3939 412 4153 43 4684 4973 5230 5332 57126 5743 6382 6401 6403 64581 6480 7099 7124 7412 7941 80255 80271 80329 847 929 9370 93978	Homo sapiens (human)
DOID:8864	acute monocytic leukemia Aliases: acute Monoblastic Leukemia and acute Monocytic Leukemia acute monocytic leukaemia acute monocytic leukaemia without mention of remission acute monocytic leukemia without mention of remission acute monocytic leukemia, FAB M5 acute monocytic leukemia, morphology	ABO ACE ACHE ACOT7 ASAH1 BST1 CALR CD33 CD38 CD44 CD74 CEL CLEC12A CYP2C19 CYP3A4 CYP7A1 DLD EBP FCGR3B FUT4 GLUL HMMR HPGDS ICAM1 IDH1 IDH2 IL1RAP INPP4B INPP5D KLRK1 LGALS3 MACROD1 MBD4 NCAM1 NT5E PAFAH1B1 PARP9 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G4A PLCG1 PRKAA2 PTGES3 SIRT6 SLC27A5 SOAT1 TIGAR VCAM1	1056 10682 10728 10998 11332 1557 1576 1581 160364 1636 1738 2215 22914 23556 2526 27306 2752 28 28992 3161 3383 3417 3418 3556 3635 3958 427 43 4684 4907 5048 51548 5290 5291 5293 5294 5310 5321 5335 5563 57103 6646 683 7412 811 83666 8821 8930 945 952 960 972	Homo sapiens (human)
DOID:331	central nervous system disease	ABO ACE ACHE ACO2 ALDH3A2 ALDH7A1 ARSA ARSB B4GALNT1 BST2 CACNA2D2 CD1D CD38 CD44 CDH13 CH25H CHAT CHI3L1 CHKB COL9A2 COLGALT1 COMT CPT1B CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 CYP3A4 DEGS1 DLD EBP ECHS1 ELOVL4 ENO2 ENPP2 EPM2A FCN2 GAD1 GAD2 GALNT14 GBA1 GBA2 GCDH GLB1 GLUL GOLPH3 GPC5 GPI GPX1 GUSB HK1 HPGDS HPRT1 HS6ST3 ICAM1 IDH2 IDH3A IDS IDUA INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MBL2 MDGA2 MGAT1 MGLL NAGA NCAM1 NCAN NDST3 NEU3 NYX OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 RTN4R SARM1 SEMA7A SGSH SHMT1 SIGLEC7 SIRT2 SLC17A5 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 SUMF1 TMED9 TPI1	1012 10558 10682 10724 10825 10908 1103 1116 1120 11343 1298 1312 1375 142 1463 149175 151056 1544 1555 1558 1559 1576 1593 161357 1636 1727 1738 1892 2026 2220 224 2262 22933 23098 23583 2571 2572 2583 2629 2639 26503 266722 27036 2720 27306 2752 28 2821 283871 284098 285362 2876 2990 3098 3251 3383 3418 3419 3423 3425 3636 3897 4069 4099 410 411 4126 4153 4245 43 4668 4684 4860 4967 50 501 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 60506 64083 64116 6448 6470 65078 6517 6609 6785 684 7167 7903 7957 79623 79709 8398 8399 8482 8560 8803 9023 912 9254 9348 9365 952 960	Homo sapiens (human)
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	ABO ACE ACHE ACO2 ADRB3 AKR1B10 ANXA5 APRT ARSB ASAH1 ASAH2 CALR CAT CD14 CD1D CEACAM5 CEACAM6 CEL CHI3L1 CHIT1 CLEC6A CLEC7A CYP1A1 CYP1A2 CYP2C19 CYP3A4 DCN EBP EDEM1 EFNA5 ENPP7 FCGR3B FCN1 FUT1 FUT2 FUT3 FUT4 GBA2 GBA3 GCLC GLB1 GPNMB GUSB HEXA HPGDS HSD11B2 HSPG2 ICAM1 INPP5D ISYNA1 LCT LEP LPCAT1 MASP1 MASP2 MBL2 MGAM MOGS MPI PARP3 PARP9 PCK1 PGD PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G2A PLA2G4A PLB1 PLCB3 PLCD1 PLCZ1 PPARA PRKAA2 PRNP PRSS8 PTEN PTGES3 PTGS2 RECK RGMA SELP SFTPA1 SFTPA2 SFTPC SFTPD SI SIRT2 SLC27A5 SMPD1 SPHK2 STS SULT1E1 SUMF1 TLR4 TNF UGT1A1 VCAM1	10039 10457 1048 1056 10682 10728 10747 10998 1116 1118 151056 1543 1544 155 1557 1576 1634 1636 1946 2215 2219 22933 2523 2524 2525 2526 2720 2729 27306 28 285362 2990 3073 308 3291 3339 3383 339221 353 3635 3938 3952 411 412 4153 427 43 4351 4680 50 5105 51477 5226 5238 5290 5291 5293 5294 5310 5315 5320 5321 5331 5333 5465 54658 5563 5621 5648 5652 56624 56848 56963 57016 5728 5743 57704 57733 6403 6440 6441 64581 6476 653509 6609 6783 7099 7124 729238 7412 7841 79888 811 83666 8434 847 8972 89869 912 929 93978 9695	Homo sapiens (human)
DOID:263	kidney cancer Aliases: malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer	ABO ACE ACHE ACO2 ACYP2 AKR1C3 ALDH9A1 ALOX5 AMACR ANXA5 APRT CAT CD44 CD74 CEACAM5 CEACAM7 COMT CYP11B1 CYP11B2 CYP17A1 CYP1A1 CYP1B1 CYP3A4 CYP4F3 DHCR24 FASN FH G6PD GLO1 GPX1 HPGDS ICAM1 IDH1 KL L1CAM LDHA LGALS3 ME1 MICA MRC1 NAMPT NT5E OGG1 PDHX PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2R1 PLCG2 PPARGC1A PTEN PTGS2 RGN SDHB SDHD SMUG1 SORD SPHK1 ST6GALNAC6 UGT2B7 VCAM1 VCAN	100507436 10135 1048 1087 10891 1312 1462 1543 1545 1576 1584 1585 1586 1636 1718 2194 223 2271 22925 23583 23600 240 2539 27306 2739 28 283871 2876 308 30815 3383 3417 353 3897 3939 3958 4051 4199 43 4360 4907 4968 50 5290 5291 5293 5294 5310 5315 5336 5728 5743 6390 6392 6652 7364 7412 8050 847 8644 8877 9104 9365 960 972 98	Homo sapiens (human)
DOID:0070322	childhood hepatocellular carcinoma Aliases: pediatric hepatocellular carcinoma	ABO ACAT1 ADH1C APRT CYP2B6 ENPP2 G6PD GPC3 LDHA PNPLA3 PTGS2 ST6GAL1 SULF1 TNKS UGT1A7 UGT1A9 VCAM1	126 1555 23213 2539 2719 28 353 38 3939 5168 54577 54600 5743 6480 7412 80339 8658	Homo sapiens (human)
DOID:0070328	adult hepatocellular carcinoma Aliases: adult hepatoma adult primary hepatocellular carcinoma	ABO ACAT1 ADH1C APRT CYP2B6 ENPP2 G6PD GPC3 HPSE LDHA OGG1 PIK3CA PNPLA3 PTGS2 ST6GAL1 SULF1 TNKS UGT1A7 UGT1A9 VCAM1	10855 126 1555 23213 2539 2719 28 353 38 3939 4968 5168 5290 54577 54600 5743 6480 7412 80339 8658	Homo sapiens (human)
DOID:1984	rectal benign neoplasm Aliases: Rectal tumor neoplasm of rectum rectum neoplasm	ABO ACAT1 ACE ACSS2 ALDH2 ALDH7A1 ALDOB ALOX12 ALOX15 ARSA ASAH1 CALR CD44 CEACAM5 CEACAM7 CERS4 CERS5 CHI3L1 CHPT1 COMT CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP2E1 DHCR24 DHDDS EXT1 FH GPX2 GPX3 HMGCS2 HPGDS HSD17B2 MICA MRC1 MUTYH 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 1543 1544 1571 1586 1588 1636 1718 1890 2131 217 2271 229 23583 23659 239 246 27306 28 2877 2878 3158 3294 38 410 427 4360 4595 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:1996	rectum adenocarcinoma Aliases: Rectal adenocarcinoma	ABO ACAT1 ACE ACSS2 ALDH2 ALDH7A1 ALDOB ALOX12 ALOX15 ARSA ASAH1 CALR CD44 CEACAM5 CEACAM7 CERS4 CERS5 CHI3L1 CHPT1 COMT CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP2E1 DHCR24 DHDDS EXT1 FH GPX2 GPX3 HMGCS2 HPGDS HSD17B2 MICA MRC1 MUTYH NT5E OGG1 PARP1 PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G4A PNPLA2 PTEN PTGS1 PTGS2 RENBP SMUG1 TDG TKT TKTL1 TYMP UGT1A1 UMPS	100507436 1048 1087 1116 1312 142 1543 1544 1571 1586 1588 1636 1718 1890 2131 217 2271 229 23583 23659 239 246 27306 28 2877 2878 3158 3294 38 410 427 4360 4595 4907 4968 501 5106 5290 5291 5293 5294 5321 54658 55902 56994 57104 5728 5742 5743 5973 6996 7086 7372 79603 79947 811 8277 91012 960	Homo sapiens (human)

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