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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 **4326 - 4350** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:11502	mitral valve insufficiency Aliases: Congenital insufficiency of mitral valve Mitral valve incompetence congenital mitral insufficiency congenital mitral regurgitation mitral regurgitation	ABO ACE AGA B3GALT6 B3GAT3 CHST3 DSE ENPP1 G6PC3 GLA HADHA HADHB IDUA PLD1 PRKAA2 SCD XYLT1 XYLT2	126792 1636 175 26229 2717 28 29940 3030 3032 3425 5167 5337 5563 6319 64131 64132 92579 9469	Homo sapiens (human)
DOID:988	mitral valve prolapse Aliases: Barlow's syndrome floppy mitral valve	ABO ACE AGA B3GALT6 B3GAT3 CHST3 DSE ENPP1 G6PC3 GLA HADHA HADHB IDUA PLD1 PRKAA2 SCD XYLT1 XYLT2	126792 1636 175 26229 2717 28 29940 3030 3032 3425 5167 5337 5563 6319 64131 64132 92579 9469	Homo sapiens (human)
DOID:12987	agranulocytosis Aliases: Granulocytopenic disorder Granulopenia granulocytopenia	ABO ACE AGA ALDH2 B3GAT1 CD177 CD33 CEL CHPT1 COG4 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A5 DHDDS FCGR3B FH G6PC1 G6PC3 HMMR IDUA LPIN2 MBL2 MMUT NAMPT NCAM1 PARP1 PARP9 PCCA PCCB PGM3 PIK3CA PIK3CB PIK3CD PIK3CG SELP SLC17A5 SLC27A5 SLC35A1 SLC35A2 SLC37A4 TMTC3 TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10135 10559 1056 10998 142 1545 1555 1557 1558 1559 1577 160418 1636 175 217 2215 2271 2538 2542 25839 26503 27087 28 3161 3425 4153 4594 4684 5095 5096 51302 5238 5290 5291 5293 5294 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6403 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)
DOID:1227	neutropenia	ABO ACE AGA ALDH2 B3GAT1 CD177 CD33 CEL CHPT1 COG4 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A5 DHDDS FCGR3B FH G6PC1 G6PC3 HMMR IDUA LPIN2 MBL2 MMUT NAMPT NCAM1 PARP1 PARP9 PCCA PCCB PGM3 PIK3CA PIK3CB PIK3CD PIK3CG SELP SLC17A5 SLC27A5 SLC35A1 SLC35A2 SLC37A4 TMTC3 TNF TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10135 10559 1056 10998 142 1545 1555 1557 1558 1559 1577 160418 1636 175 217 2215 2271 2538 2542 25839 26503 27087 28 3161 3425 4153 4594 4684 5095 5096 51302 5238 5290 5291 5293 5294 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6403 7124 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)
DOID:1498	cholera Aliases: Cholera - Vibrio cholerae Cholera due to Vibrio cholerae Vibrio cholerae	ABO ACE ADPRH ALDH7A1 ANXA5 APRT ART5 CD44 CD55 CTBS CYP11A1 CYP19A1 CYP27A1 CYP2B6 ENO1 GLB1 GOLPH3 HSD17B1 ICAM1 NAGLU NT5E PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PRG2 PRSS8 PTEN SLC5A1 STS TM7SF2 XYLT2	116969 141 1486 1555 1583 1588 1593 1604 1636 2023 2720 28 308 3292 3383 353 412 4669 4907 501 5290 5291 5293 5294 5553 5652 5728 64083 64132 6523 7108 9468 960	Homo sapiens (human)
DOID:2987	familial mediterranean fever Aliases: FMF benign paroxysmal peritonitis	ABO ACE ADIPOQ CAT CHIT1 COL9A2 CYP3A4 FDFT1 GLA GLO1 GPX1 LGALS3 LPIN2 LYZ MICA PIK3CG PRNP STS TLR4	100507436 1118 1298 1576 1636 2222 2717 2739 28 2876 3958 4069 412 5294 5621 7099 847 9370 9663	Homo sapiens (human)
DOID:13593	eclampsia Aliases: Eclampsia in puerperium Eclampsia, postpartum Postpartum eclampsia	ABO ACE ADH5 ANXA5 ATP6AP2 CALR CD14 COMT CYP11B2 CYP2C9 DGKI HSD11B2 IL18R1 KLRB1 LPL MBL2 PTGS1 PTGS2 SORD	10159 128 1312 1559 1585 1636 28 308 3291 3820 4023 4153 5742 5743 6652 811 8809 9162 929	Homo sapiens (human)
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	ABO ACE ADH1B AGK AKR1B10 ALDH2 ALPI ALPP AMACR ANXA5 ANXA7 APRT ARSA ART1 BDH2 BST2 CACNA2D2 CACNA2D3 CALR CD209 CD38 CD44 CD93 CDH13 CEL CLC CPT1A CYB5R2 CYP2E1 DHCR24 EFNA2 ENO1 FASN FCER2 FH FOLR1 GALC GALNT7 GFPT1 GGT1 GPX1 GPX2 GUSB HPGDS HPSE ICAM1 INPP4B KLRK1 LDHA LGALS1 LGALS9 LYPD5 MAPK14 MICA MLYCD MMUT MRC1 MTAP OGG1 OPCML PARP1 PFKFB3 PIGU PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G6 PLA2G7 PLAAT3 PLB1 PLCD3 PNPLA2 PRKAA2 PTEN PTGS2 RECK RPN2 RTN4R RTN4RL1 SDC1 SELP SIRT2 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SRGN TIGAR TKT TKTL1 TM7SF2 TP53 TYMP UGT2B17 VCAM1	100507436 1012 1056 10855 11145 113026 1178 125 128869 1374 142 1432 146760 151056 1571 1636 1718 1890 1943 2023 217 2194 2208 2271 22914 22918 22933 23417 2348 23583 23600 248 250 2581 2673 2678 27306 28 284348 2876 2877 2990 308 30835 310 3383 353 3939 3956 3965 410 417 4360 4507 4594 4968 4978 51548 51700 51809 5209 5290 5291 5293 5294 5315 5319 5552 5563 55750 55799 56898 57016 57103 57104 5728 5743 6185 6382 6403 65078 6609 6646 684 7086 7108 7157 7367 7412 7941 811 8277 8398 8434 8821 8877 9254 952 960	Homo sapiens (human)
DOID:4989	pancreatitis	ABO ACE ADH1B ADH1C ADH4 ADH5 AGPAT2 AKR1A1 AKR1B10 ALDH2 AMACR AMT AMY2A BCKDHA BCKDHB CAT CD14 CD38 CEACAM5 CEL CPTP CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP2E1 DBT FCGR3B FUT2 G6PC1 GPI GPIHBP1 HMGCL HPSE HTR2A ICAM1 ISYNA1 KL LEPR LGALS3 LPL MBL2 MMUT MTAP PCCA PCCB PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLA2G7 PLAUR PNLIP PNLIPRP2 PTEN PTGS2 QTRT1 REG1B SELE SELL SFTPD SIRT2 SLC17A5 SLC37A4 SMUG1 SPHK2 SRD5A2 ST8SIA4 SULF1 SULF2 TIGAR TLR2 TLR4 TM7SF2 UGT1A7 UMOD VCAM1	10327 1048 10555 1056 10855 125 126 127 128 1543 1545 1571 1586 1591 1629 1636 217 2215 22933 23213 23583 23600 2524 2538 2542 26503 275 279 28 2821 3155 3356 3383 338328 3953 3958 4023 4153 4507 4594 5095 5096 51477 5290 5291 5293 5294 5320 5329 5406 5408 54577 55959 56848 57016 57103 5728 5743 593 594 5968 6401 6402 6441 6716 7097 7099 7108 7369 7412 7903 7941 80772 81890 847 929 9365 952	Homo sapiens (human)
DOID:3119	gastrointestinal system cancer Aliases: GI tumor digestive system cancer gastrointestinal tract cancer	ABO ACE ACYP2 AKR1B10 ALOX5 ALPP ASAH1 B4GALNT1 CALR CBR1 CD44 CEACAM5 CEACAM6 CEACAM7 CFC1 CHI3L1 CMAS CYP19A1 CYP2C19 CYP2E1 CYP3A4 CYP3A5 EBP EFNA2 FUT4 HK2 HPGDS HPSE ICAM1 IDH1 IGF2R KLRK1 LGALS1 LGALS9 MBD4 MUTYH OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLCE1 PTEN PTGS1 PTGS2 SDC1 SDHC SDHD SHMT2 SIGLEC7 SIRT2 TYMP UGT1A1 UGT1A7 UMPS	1048 10682 10855 1087 1116 1557 1571 1576 1577 1588 1636 1890 1943 22914 22933 240 250 2526 2583 27036 27306 28 3099 3383 3417 3482 3956 3965 427 4595 4680 4968 51196 5290 5291 5293 5294 5319 54577 54658 55907 55997 57016 5728 5742 5743 6382 6391 6392 6472 7372 811 873 8930 960 98	Homo sapiens (human)
DOID:0050819	obsolete Matthew-Wood syndrome	ABO ACE ACYP2 AKR1B10 ALDH7A1 APRT ARSA ARSH C1GALT1 C1GALT1C1 CALR CD177 CD38 CD44 CEACAM5 CEACAM7 CEL CEMIP CERK CHKA CHST15 CYP3A5 DPEP1 ENO1 FASN FBP1 FCGR3B FCN2 FDPS FUT3 FUT4 GAD1 GALNT3 GAPDH GLUL GOLPH3 GP2 GPC1 GPC5 GPI GPX1 HAS2 HK1 HK2 HMMR HYAL2 IDH1 INPP5D KL L1CAM LDHB LGALS1 LGALS3 LGALS4 LPCAT2 MCAT MDH1 ME2 MLYCD MMUT MRC1 MSLN NT5E OGA OGT PAFAH1B2 PARG PARP1 PDHX PGAM1 PGD PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLAUR PLCD1 PLCD3 PLD1 PNPLA2 PRNP PTEN PTGS2 REG1B REG3G SDC1 SDC2 SIGLEC7 SIRT6 SLC17A5 SLC35F6 SMUG1 SOAT1 SQLE ST6GAL1 VCAM1 VCAN VTCN1	10232 1048 1056 10724 1087 1119 113026 130120 142 1462 1577 1636 1800 2023 2194 2203 2215 2220 2224 2262 23417 23583 2525 2526 2571 2591 2597 26503 27036 27349 2752 28 2813 2817 2821 2876 29071 3037 3098 3099 3161 3417 347527 353 3635 3897 3945 3956 3958 3960 410 4190 4200 4360 4594 4907 501 5049 51363 51548 5223 5226 5230 5290 5291 5293 5294 5315 5329 5333 5337 54947 54978 5621 56913 57016 57104 57126 57214 5728 5743 5968 6382 6383 64083 64781 6480 6646 6713 7412 79679 8050 811 8473 8505 8692 9365 952 960 98	Homo sapiens (human)
DOID:10629	microphthalmia Aliases: microphthalmos simple microphthalmos	ABO ACE ACYP2 AKR1B10 ALDH1A3 ALDH6A1 ALDH7A1 APRT ARSA ARSD ARSH B3GALNT2 B4GAT1 C1GALT1 C1GALT1C1 CALR CD177 CD38 CD44 CEACAM5 CEACAM7 CEL CEMIP CERK CHKA CHST15 COMT CRPPA CYP1B1 CYP3A5 DAG1 DPEP1 DSEL EBP ENO1 EOGT FASN FBP1 FCGR3B FCN2 FDPS FH FKRP FKTN FREM1 FUT3 FUT4 GAD1 GALNT3 GAPDH GLUL GMPPB GOLPH3 GP2 GPC1 GPC5 GPI GPNMB GPX1 HAS2 HK1 HK2 HMMR HYAL2 IDH1 INPP5D KL L1CAM LARGE1 LDHB LGALS1 LGALS3 LGALS4 LPCAT2 LRP5 MCAT MDH1 ME2 MLYCD MMUT MRC1 MSLN NDST1 NEU1 NT5E OCRL OGA OGT PAFAH1B2 PARG PARP1 PDHX PGAM1 PGD PGK1 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKM PLAUR PLCD1 PLCD3 PLD1 PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRNP PTEN PTGS2 REG1B REG3G RXYLT1 SDC1 SDC2 SIGLEC7 SIRT6 SLC17A5 SLC35F6 SMUG1 SOAT1 SQLE SRD5A3 ST6GAL1 VCAM1 VCAN VTCN1 XYLT2	10232 10329 10457 1048 1056 10585 10682 10724 1087 11041 1119 113026 130120 1312 142 1462 148789 1545 1577 158326 1605 1636 1800 2023 2194 220 2203 2215 2218 2220 2224 2262 2271 23417 23556 23583 2525 2526 2571 2591 2597 26503 27036 27349 2752 28 2813 2817 2821 285203 2876 29071 29925 29954 3037 3098 3099 3161 3340 3417 347527 353 3635 3897 3945 3956 3958 3960 4041 410 414 4190 4200 4329 4360 4594 4758 4907 4952 501 5049 51363 51548 5223 5226 5230 5290 5291 5293 5294 5315 5329 5333 5337 54947 54978 55624 5621 56913 57016 57104 57126 57214 5728 5743 5968 6382 6383 64083 64132 64781 6480 6646 6713 729920 7412 79147 79644 79679 8050 811 84197 8473 84892 8505 8692 92126 9215 9365 952 960 98	Homo sapiens (human)
DOID:1380	endometrial cancer Aliases: endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium primary malignant neoplasm of endometrium tumor of Endometrium	ABO ACE ACSS2 ADH7 ADRB3 AGPAT2 AKR1B10 AKR1B1 AKR1C1 AKR1C3 AKT2 ALOX5 ANXA5 APEX1 APRT ATP6AP2 BAAT BAD BST2 C1GALT1C1 CACNA2D3 CALR CAT CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CHPT1 CHST15 CHST3 COMT CSPG4 CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2E1 CYP3A4 CYP3A7 CYP4F3 DAG1 DCN DGKA DHCR24 DHDDS DHRS11 DOLPP1 EFNA2 ENO1 ENOSF1 ERRFI1 EXT1 FASN FH FOLR1 FOLR2 G6PC1 GALNT6 GGT1 GLO1 GOLPH3 GPC3 GPCPD1 GPI HAS1 HMMR HPGDS HPSE HS3ST2 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD3B1 HSD3B2 HYAL1 HYAL2 HYAL3 IDH1 IGF2R KLRC3 L1CAM LDHA LGALS1 LGALS3 LGALS9 LPL LYPD5 MACROD1 MBD4 MBL2 MDH2 MGLL MRC1 MSLN MTAP MUTYH NCAM1 NDUFAB1 NEU1 NT5E NTHL1 OGG1 PARP1 PDIA3 PGAM2 PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLB1 PRG2 PRKAA2 PSMD10 PTEN PTGES2 PTGS2 SCD SDC1 SDHB SDHC SDHD SGPL1 SIGLEC1 SIRT2 SIRT4 SIRT6 SLC2A3 SLC2A4 SMUG1 SOAT1 SPAM1 SRD5A2 ST6GALNAC1 STS SULT1E1 SULT2B1 TFF1 TMTC1 TNFRSF10C TNKS2 TP53 TYMP UGT1A1 UGT2B17 UGT2B7 VCAN VTCN1	1012 10159 10232 1048 10555 10855 1087 1116 11226 11343 131 1312 142 1462 1464 151056 1543 1544 1545 155 1551 1555 1571 1576 1583 1586 1588 1591 1604 1605 1606 1634 1636 1645 1718 1890 1943 2023 208 2131 2194 2271 22933 231 23409 2348 2350 23583 23659 240 2538 2678 2719 27306 2739 28 2821 284348 28992 29071 2923 3036 308 3161 328 3283 3284 3292 3294 3295 3373 3417 3482 353 3823 3897 3939 3956 3958 3965 4023 4051 412 4153 4191 4360 4507 4595 4684 4706 4758 4907 4913 4968 51363 51478 51548 5224 5230 5236 5290 5291 5293 5294 5315 5319 5320 54206 54658 5553 55556 5563 55799 55808 55902 56261 56994 570 57016 5716 57171 572 5728 5743 6319 6382 6390 6391 6392 64083 6515 6517 6614 6646 6677 6716 6783 6820 684 7031 7157 7364 7367 79154 79679 79947 80142 80351 811 8372 83857 8398 847 8630 8644 8692 8794 8879 8930 9469 960 9956	Homo sapiens (human)
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	ABO ACE ACSS2 ADH1A ADPRH ALOX5 ANXA5 BAAT CH25H COG2 COL9A2 CYP7A1 EPHX2 EXT1 EXT2 GK GLB1 HSPG2 ICAM1 LCAT LIPA LIPC LIPG LPL OLR1 PLA2G15 PLA2G7 PRKCSH RBP4 SDC2 SELE SIGLEC7 TNFRSF10C	124 1298 141 1581 1636 2053 2131 2132 22796 23659 240 27036 2710 2720 28 308 3339 3383 3931 3988 3990 4023 4973 5589 55902 570 5950 6383 6401 7941 8794 9023 9388	Homo sapiens (human)
DOID:224	transient cerebral ischemia Aliases: TIA TIA - Transient ischaemic attack Transient cerebral ischaemia Transient ischemic attacks transient ischemic attack	ABO ACE ACSM3 CALR CAT CD74 CHKA CYP2C19 DHCR24 FCN1 G6PD GAD1 GAD2 GCDH GLA GLUL GOT1 GPX1 GPX3 ICAM1 LTC4S MCFD2 NAMPT OGG1 OLR1 PARP1 PCNA PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PTEN PTGIS PTGS1 PTGS2 SELL SELP SIRT6 SMPD3 SULT1E1 TNF UCP2	10135 1119 142 1557 1636 1718 2219 2539 2571 2572 2639 2717 2752 28 2805 2876 2878 3383 4056 4968 4973 5111 51548 5277 5290 5291 5293 5294 55512 5728 5740 5742 5743 6296 6402 6403 6783 7124 7351 7941 811 847 90411 972	Homo sapiens (human)
DOID:2347	generalized atherosclerosis Aliases: Generalised atherosclerosis	ABO ACE ACSM3 ARSA ATP6V0A2 CYP24A1 DGAT2 GPX3 HPGDS OLR1 PLA2G7 RENBP SELE	1591 1636 23545 27306 28 2878 410 4973 5973 6296 6401 7941 84649	Homo sapiens (human)
DOID:2871	endometrial carcinoma Aliases: carcinoma of the Endometrium endometrioid carcinoma endometrioid carcinoma of female Reproductive system	ABO ACE ACSL5 ACSS2 ADH7 AGPAT2 AKR1B10 AKR1B1 AKR1C1 AKR1C3 ALOX5 ANXA5 APRT ATP6AP2 BAAT BRAF BST2 C1GALT1C1 CACNA2D3 CALR CAT CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CHPT1 CHST15 CHST3 COMT CSPG4 CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2E1 CYP3A4 CYP3A7 CYP4F3 DAG1 DCN DGKA DHCR24 DHDDS DHRS11 DOLPP1 EFNA2 ENO1 ENO2 ENOSF1 EPM2A EXT1 FASN FH FOLR1 FOLR2 G6PC1 GALNT6 GGT1 GLO1 GOLPH3 GPC3 GPCPD1 GPI GSK3B HAS1 HMMR HPGDS HPSE HS3ST2 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD3B1 HSD3B2 HYAL1 HYAL2 HYAL3 IDH1 IGF2R KLRC3 L1CAM LDHA LGALS1 LGALS3 LGALS9 LPL LYPD5 MACROD1 MBD4 MBL2 MDH2 MGLL MRC1 MSLN MTAP MUTYH NCAM1 NDUFAB1 NEU1 NT5E NTHL1 OGG1 OVGP1 PARP1 PDIA3 PGAM2 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLB1 PRG2 PRKAA2 PSMD10 PTEN PTGES2 PTGS1 PTGS2 SCD SDC1 SDHB SDHC SDHD SGPL1 SIGLEC1 SIRT2 SIRT4 SIRT6 SLC2A3 SLC2A4 SMUG1 SOAT1 SPAM1 SRD5A2 ST6GALNAC1 STS SULT1E1 SULT2B1 TFF1 TMTC1 TNFRSF10C TNKS2 TP53 TYMP UGT1A1 UGT2B17 UGT2B7 VCAN VTCN1	1012 10159 10232 1048 10555 10855 1087 1116 11226 11343 131 1312 142 1462 1464 151056 1543 1544 1545 1551 1555 1571 1576 1583 1586 1588 1591 1604 1605 1606 1634 1636 1645 1718 1890 1943 2023 2026 2131 2194 2271 22933 231 23409 2348 2350 23583 23659 240 2538 2678 2719 27306 2739 28 2821 284348 28992 29071 2923 2932 3036 308 3161 3283 3284 3292 3294 3295 3373 3417 3482 353 3823 3897 3939 3956 3958 3965 4023 4051 412 4153 4191 4360 4507 4595 4684 4706 4758 4907 4913 4968 5016 51363 51478 51548 51703 5224 5230 5290 5291 5293 5294 5315 5319 5320 54658 5553 55556 5563 55799 55808 55902 56261 56994 570 57016 5716 57171 5728 5742 5743 6319 6382 6390 6391 6392 64083 6515 6517 6614 6646 6677 6716 673 6783 6820 684 7031 7157 7364 7367 79154 7957 79679 79947 80142 80351 811 8372 83857 8398 847 8630 8644 8692 8794 8879 8930 9469 960 9956	Homo sapiens (human)
DOID:178	vascular disease Aliases: vascular tissue disease	ABO ACE ACSL1 ADH1B ADIPOQ AKR1B1 ALDH2 CAT CD38 CHI3L1 CYP19A1 CYP2C9 CYP4F2 DCN DDOST DLAT DLD ENO2 FCGR3B FCN2 FOLR2 G6PD GLA GLO1 GPI HPSE ICAM1 ISYNA1 KL LGALS3 LIPC LIPG LPCAT3 LPL MBL2 NAMPT OLR1 PAFAH1B1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLA2G7 PLB1 PNP PRKAA2 PTEN PTGS2 RENBP SELE SELL SLC2A10 SLC2A4 SMUG1 SOAT1 SPHK2 TM7SF2 VCAM1 VCAN	10135 10162 10855 1116 125 1462 151056 1559 1588 1634 1636 1650 1737 1738 2026 217 2180 2215 2220 231 2350 23583 2539 2717 2739 28 2821 3383 3958 3990 4023 4153 4860 4973 5048 51477 5290 5291 5293 5294 5320 5563 56848 5728 5743 5973 6401 6402 6517 6646 7108 7412 7941 81031 847 8529 9365 9370 9388 952	Homo sapiens (human)
DOID:9538	multiple myeloma Aliases: myeloma	ABO ACE ACSBG1 ALOX5 ALPI ALPP AMY1A AMY1B AMY1C ANXA5 APRT B3GAT1 BST2 CANX CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD74 CEACAM6 CHI3L1 CHPT1 CLEC12A COLEC10 CPT1C CRYBG1 CYP1A1 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP3A4 DCN DHCR24 DHDDS DLD ENO1 ENPP1 ENPP2 EXT1 FASN FCER2 FCGR3B FDPS FH FOLR1 FOLR2 FUT1 G6PD GAPDH GBA1 GLB1 GLO1 GPX1 GPX3 HAS1 HAS2 HK1 HK2 HMMR HPGDS HPSE2 HPSE ICAM1 IDH1 IDH2 IDUA IGF2R IL1RL1 INPP5D INPPL1 KL KLRB1 KLRC1 KLRK1 LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LPL MBL2 MCAT MICA MINPP1 MMP25 MPG MRC1 NAGLU NAMPT NCAM1 NEIL1 OGA PAFAH1B1 PARP14 PARP1 PCYT1A PFKFB3 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLAUR PPT2 PRKAA2 PSAP PSMD10 PTEN PTGS1 PTGS2 RECK RENBP RPIA SDC1 SELE SELL SELP SIGLEC1 SIRT6 SLC2A12 SLC2A4 SLC2A8 SLC35A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST3GAL6 TDG TNF TNFRSF10C TNKS TP53 TYMP UGCG ULBP2 VCAM1 VCAN	100507436 10135 10402 10584 10724 10855 1116 113829 126129 142 1462 154091 1543 1545 1555 1557 1558 1559 1576 160364 1634 1636 1718 1738 1890 200576 202 2023 2131 2194 2208 2215 2224 2271 22914 22934 23205 2348 2350 23583 240 248 250 2523 2539 2597 2629 27087 2720 27306 27349 2739 276 277 278 28 2876 2878 29988 3036 3037 308 3098 3099 3161 3383 3417 3418 3425 3482 353 3635 3636 3820 3821 3939 3956 3958 3960 3964 3965 4023 4153 4350 4360 4669 4680 4684 5048 5130 51548 5167 5168 5209 5277 5290 5291 5293 5294 5315 5329 54625 5552 5563 5660 56848 56994 5716 5728 5742 5743 5973 60495 6382 6401 6402 6403 64386 6517 6609 6614 6646 684 6996 7124 7157 7357 7412 79661 79947 80328 821 8434 847 8658 8794 8877 912 9173 929 933 9365 9374 945 952 9562 960 962 972	Homo sapiens (human)
DOID:1703	Richter's syndrome Aliases: Richter syndrome	ABO ACE ACSBG1 AKR1C4 ALDH7A1 ANXA5 ANXA7 APRT ARSD ARSH B3GAT1 B4GALNT1 BST1 CALR CD14 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CHST11 CLEC12A CLEC17A COG1 COLEC10 CSPG4 CYP1A1 CYP2B6 CYP2C9 DCN ENO1 FASN FCER2 FCGR3B FH FKRP FMOD G6PD GALNS GALNT11 GLB1 GPLD1 GUSB HAS1 HK1 HMMR HPGDS HPSE2 HSPG2 ICAM1 IDH1 IDH2 IDUA IL18R1 IL18RAP IL1RL1 INPPL1 ISYNA1 LGALS1 LGALS3 LGALS9 LPIN1 LPL MBL2 MCAT MGAT5 MRC1 NDUFAB1 NT5E PARP1 PARP9 PCYT1A PGM3 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PLCG2 PNP PTEN PTGS2 RENBP SDC1 SDHB SELL SI SIGLEC6 SIGLEC7 SIRT2 SLC2A4 SLC35B2 SMUG1 SULT1E1 TIGAR TNFRSF10C UGT2B17 VCAM1	10584 1109 142 1464 1543 1555 1559 160364 1604 1634 1636 2023 2194 2208 2215 2271 22933 23175 23205 2331 23583 2539 2583 2588 27036 27087 2720 27306 27349 28 2822 2990 3036 308 3098 310 3161 3339 3383 3417 3418 3425 347527 347734 353 3636 388512 3956 3958 3965 4023 414 4153 4249 4360 4706 4860 4907 501 50515 5130 51477 5238 5287 5290 5291 5293 5294 5335 5336 57103 5728 5743 5973 60495 6382 6390 63917 6402 6476 6517 6783 683 7367 7412 79147 811 83666 8794 8807 8809 912 9173 929 933 9382 945 946 952 960 972	Homo sapiens (human)
DOID:1040	chronic lymphocytic leukemia Aliases: B-cell chronic lymphocytic leukaemia B-cell chronic lymphocytic leukemia CLL chronic lymphatic leukaemia chronic lymphatic leukemia chronic lymphocytic leukaemia lymphoplasmacytic leukaemia lymphoplasmacytic leukemia	ABO ACE ACSBG1 AKR1C4 ALDH7A1 ANXA5 ANXA7 APRT ARSD ARSH B3GAT1 B4GALNT1 BST1 CALR CD14 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CHST11 CLEC12A CLEC17A COG1 COLEC10 CSPG4 CYP1A1 CYP2B6 CYP2C9 DCN ENO1 FASN FCER2 FCGR3B FH FKRP FMOD G6PD GALNS GALNT11 GLB1 GPLD1 GUSB HAS1 HK1 HMMR HPGDS HPSE2 HSPG2 ICAM1 IDH1 IDH2 IDUA IL18R1 IL18RAP IL1RL1 INPPL1 ISYNA1 LGALS1 LGALS3 LGALS9 LPIN1 LPL MBL2 MCAT MGAT5 MRC1 NDUFAB1 NT5E PARP1 PARP9 PCYT1A PGM3 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PLCG2 PNP PTEN PTGS2 RENBP SDC1 SDHB SELL SI SIGLEC6 SIGLEC7 SIRT2 SLC2A4 SLC35B2 SMUG1 SULT1E1 TIGAR TNFRSF10C UGT2B17 VCAM1	10584 1109 142 1464 1543 1555 1559 160364 1604 1634 1636 2023 2194 2208 2215 2271 22933 23175 23205 2331 23583 2539 2583 2588 27036 27087 2720 27306 27349 28 2822 2990 3036 308 3098 310 3161 3339 3383 3417 3418 3425 347527 347734 353 3636 388512 3956 3958 3965 4023 414 4153 4249 4360 4706 4860 4907 501 50515 5130 51477 5238 5287 5290 5291 5293 5294 5335 5336 57103 5728 5743 5973 60495 6382 6390 63917 6402 6476 6517 6783 683 7367 7412 79147 811 83666 8794 8807 8809 912 9173 929 933 9382 945 946 952 960 972	Homo sapiens (human)
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	ABO ACE ACOX1 ADH7 ALDH3A2 ALDH7A1 ALG12 AMACR ARSI CA4 CANX CD44 CD74 COG4 CTNS DGKE DHDDS ECHS1 ELOVL4 ELOVL6 FASN FKRP G6PD GK GLO1 GMPPB GNPTG HADH HADHA HADHB HGSNAT HK1 HK2 HKDC1 HSD17B6 IDH2 IDH3A IDH3B IMPA1 KL LARGE1 LPCAT1 MDH1 NAGLU NGLY1 NYX PDHA1 PMM2 PNPLA2 PNPLA6 POMGNT1 POMT1 POMT2 PRNP PTEN RPE SDHA SDHB SDHD SFTPD SGSH SMC3 SYNJ1 TMED3	10585 10908 131 138050 1497 1636 1892 2194 224 23423 23600 2539 25839 2710 2739 28 29925 29954 3030 3032 3033 3098 3099 340075 3418 3419 3420 3612 4190 4669 501 51 5160 5373 55624 55768 5621 57104 5728 60506 6120 6389 6390 6392 6441 6448 6785 762 79071 79087 79147 79888 79947 80201 821 84572 8526 8630 8867 9126 9215 9365 960 972	Homo sapiens (human)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	ABO ACE ACOX1 ADH7 ALDH3A2 ALDH7A1 ALG12 AMACR ARSI BCAN CA4 CANX CAT CD44 CD74 COG4 CTNS DGKE DHDDS ECHS1 ELOVL4 ELOVL6 FASN FKRP G6PD GK GLO1 GMPPB GNPTG HADH HADHA HADHB HGSNAT HK1 HK2 HKDC1 HSD17B6 IDH2 IDH3A IDH3B IMPA1 KL LARGE1 LPCAT1 MDH1 NAGLU NGLY1 NYX PDHA1 PMM2 PNPLA2 PNPLA6 POMGNT1 POMT1 POMT2 PRNP PRPS1 PTEN RPE SDHA SDHB SDHD SFTPD SGSH SMC3 SYNJ1 TMED3	10585 10908 131 138050 1497 1636 1892 2194 224 23423 23600 2539 25839 2710 2739 28 29925 29954 3030 3032 3033 3098 3099 340075 3418 3419 3420 3612 4190 4669 501 51 5160 5373 55624 55768 5621 5631 57104 5728 60506 6120 63827 6389 6390 6392 6441 6448 6785 762 79071 79087 79147 79888 79947 80201 821 84572 847 8526 8630 8867 9126 9215 9365 960 972	Homo sapiens (human)
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	ABO ACE ACOX1 ADH7 ALDH3A2 ALDH7A1 ALG12 ALOX12 AMACR ARSI CA4 CACNA2D4 CANX CD38 CD44 CD48 CD74 CNTN3 CNTN6 COG4 CTNS CYP19A1 DGKE DHDDS ECHS1 ELOVL4 ELOVL6 FASN FKRP G6PD GAL3ST1 GK GLO1 GMPPB GNPTG H6PD HADH HADHA HADHB HGSNAT HK1 HK2 HKDC1 HSD11B1 HSD17B6 IDH2 IDH3A IDH3B IMPA1 KL LARGE1 LGALS1 LPCAT1 MDH1 NAGLU NGLY1 NYX PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 PNPLA6 POMGNT1 POMT1 POMT2 PRNP PTEN RGMA RPE SDHA SDHB SDHD SFTPD SGSH SIGLEC7 SLC35A1 SMC3 SOAT1 SYNJ1 TMED3	10559 10585 10908 131 138050 1497 1588 1636 1892 2194 224 23423 23600 239 2539 25839 27036 2710 27255 2739 28 29925 29954 3030 3032 3033 3098 3099 3290 340075 3418 3419 3420 3612 3956 4190 4669 501 5067 51 5160 5290 5291 5293 5294 5373 55624 55768 5621 56963 57104 5728 60506 6120 6389 6390 6392 6441 6448 6646 6785 762 79071 79087 79147 79888 79947 80201 821 84572 8526 8630 8867 9126 9215 93589 9365 9514 952 9563 960 962 972	Homo sapiens (human)
DOID:5823	childhood lymphoma Aliases: pediatric lymphoma	ABO ACE ACOX1 ACSF3 ALOX12 ALPI ALPP ANXA5 CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CEL CHGA CLEC10A CNTN2 COMT CYP17A1 CYP1A1 ENO2 ENOSF1 EPM2A FCER2 FCGR3B FH FMOD G6PD GBA1 GLB1 GPI GPX1 HEXA HMMR HPGDS HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LY6K MCAT MLYCD MRC1 MTAP NCAM1 NDUFAB1 NT5E PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 STS SULT1E1 TIGAR TMTC3 TNFRSF10C VCAM1 VTCN1	10462 1056 10998 1113 1312 1543 1586 1604 160418 1636 197322 2026 2208 2215 2271 22914 2331 23417 23583 239 248 250 2539 2629 2720 27306 27349 28 2821 2876 3073 308 3161 3383 3417 3418 347734 3554 3635 3821 3824 3956 3958 412 4360 4507 4684 4706 4860 4907 51 51477 5290 5291 5293 5294 54742 5506 55556 56848 57103 5728 5730 5743 65078 6515 6646 6783 6900 7355 7412 7957 79679 83666 847 8692 8794 8821 912 9126 9173 929 933 945 952 9536 960 962 972	Homo sapiens (human)

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