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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **15351 - 15375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:3526	cerebral infarction Aliases: CVA - Cerebral infarction Cerebral infarct	A2M ACE ADORA1 AGER ANXA1 APOA5 APOB APOE BRINP3 CBS EPHX2 F2 F5 F7 FOLH1 GPX3 GRIN1 GSN HIF1A HLA-A HLA-B HLA-DRB1 HMGB1 HNF1A ICAM1 IFNB1 ITGA9 ITGAM KALRN KCNN4 LIPG LPA LTA MAP2 MTR MYRF NR1H3 PARK7 PDX1 PLA2G7 PON1 PON2 PRKCH PROS1 PTGIS RBP4 SERPINE1 SERPING1 SLC6A1 SOS1 TBXAS1 THBD TNF TNFRSF11B TOMM40 TYMS VIM	10062 10452 11315 116519 134 1636 177 2 2053 2147 2153 2155 2346 2878 2902 2934 301 3091 3105 3106 3123 3146 338 3383 339479 3456 348 3651 3680 3684 3783 4018 4049 4133 4548 4982 5054 5444 5445 5583 5627 5740 5950 6529 6654 6916 6927 7056 710 7124 7298 7431 745 7941 875 8997 9388	Homo sapiens (human)	Alliance of Genome Resources
DOID:5844	myocardial infarction Aliases: Myocardial infarct heart attack	ACE2 ACE ADAMTS1 ADD1 ADIPOQ ADRB1 ADRB2 AGER AGT AGTR1 AHSG AIMP1 AKT1 ALDH2 ANGPT1 ANGPT2 ANXA5 APEX1 APOA1 APOA4 APOC3 APOE APOH AVPR1A BDKRB1 BDKRB2 BRINP3 C3 C7 C8A C8B CACYBP CAMK2D CASR CAT CCL2 CCL5 CCN2 CCR2 CCR3 CD14 CD36 CD40LG CD59 CDKN1B CFL1 CHI3L1 CIITA CLU COL1A1 COL3A1 COL4A1 COL6A3 CS CSF2 CSF3 CSNK2A1 CSNK2A3 CTLA4 CTSB CYBB CYP11B1 CYP1B1 CYP2J2 CYP2R1 DAB2 DAG1 DCN DVL1 DYRK1A ECE1 EDN1 EDN2 EDNRA EDNRB EPAS1 EPHB1 EPO EPOR ERBB2 ERBB4 ESR1 F12 F13A1 F2 F3 F5 F7 FGB FLT1 FN1 FOS FTO FZD2 G6PD GATA4 GCLC GP1BA GP6 GPX1 GSK3B GSN HADH HFE HGF HIF1A HMGB1 HP HSD11B2 HSPD1 ICAM1 IGF1R IL10 IL17A IL18BP IL4R IL6R INHBA ITGA2 ITGA3 ITGB1 ITGB3 ITIH4 KCNK2 KCNN4 KDM6A KDR KLK1 LAMP2 LCAT LGALS2 LIPG LPA LPL LRP1 LRP8 LRPAP1 LTA MAP3K7 MDH2 MDK MEF2C MIF MLXIPL MMP13 MMP14 MMP1 MMP2 MMP3 MMP9 MTOR MYH7 NCAM1 NFE2L2 NGF NOS2 NOS3 NPPA NPPB NPR1 NR1H3 NRG1 OLR1 OPA1 OPRD1 OPRK1 PAPPA PCSK2 PDE5A PDGFD PEBP1 PECAM1 PGF PLA2G7 PLAT PLAU PLAUR PLCB1 PLCB3 PON1 POSTN PPARA PPARGC1A PROC PSMA6 PTGIS PTGS2 RAD50 RANBP1 RBP4 REG1A REG1B REN RPS6KB1 RYR1 SDC1 SDC4 SELP SERPINE1 SHH SIRT1 SIRT3 SMAD4 SOD1 SOD2 SOD3 SPARC SPP1 TBX3 TEK TFPI TGFB1 TGFB2 TGFBR1 TGFBR2 THBS1 TLR4 TNC TNF TNFRSF11B TNFRSF14 TNFRSF1A TNFRSF1B TNFSF11 TNFSF4 TREM1 TRPV1 TTN UTS2R VCAN VDAC2 VEGFA VEGFB VWF YBX1	10062 10068 10111 1027 10631 1072 10891 1116 118 1191 120227 1232 1277 1281 1282 1293 1431 1437 1440 1457 1462 1490 1493 1508 153 1536 154 1545 1573 1584 1601 1605 1634 1636 177 183 185 1855 1859 1889 1906 1907 1909 1910 197 2034 2047 2056 2057 2064 2066 207 2099 2147 2152 2153 2155 2161 2162 217 2244 2321 23236 2335 23410 23411 2353 2475 2535 2539 2626 27101 2729 2811 283106 2837 284 285 2876 2932 2934 3033 3077 308 3082 3084 3091 3146 3240 328 3291 3329 335 337 3371 3383 339479 345 348 3480 350 3566 3570 3586 3605 3624 3673 3675 3688 3690 3700 3776 3783 3791 3816 3920 3931 3957 4018 4023 4035 4043 4049 4089 4191 4192 4208 4261 4282 4312 4313 4314 4318 4322 4323 4625 4684 4780 4803 4843 4846 4878 4879 4881 4904 4973 4976 4982 4985 4986 5037 5054 5069 51085 51206 5126 5175 5228 5327 5328 5329 5331 54210 5444 5465 552 5624 5687 5740 5743 5902 59272 5950 5967 5968 5972 6198 623 624 6261 6347 6352 6382 6385 6403 6469 6647 6648 6649 6678 6696 6885 6926 7010 7035 7040 7042 7046 7048 7057 7099 7124 7132 7133 718 7273 7292 729230 730 731 732 7403 7417 7422 7423 7442 7450 7804 79068 7941 80310 817 846 847 8600 8654 8764 9255 929 9370 9388 948 9510 959 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060569	hypertrichotic osteochondrodysplasia Cantu type Aliases: Cantu syndrome	ABCC9	10060	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110451	dilated cardiomyopathy 1O Aliases: CMD1O dilated cardiomyopathy with ventricular tachycardia	ABCC9	10060	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050650	familial atrial fibrillation Aliases: ATFB	ABCC9 KCNE2 KCNQ1 NPPA NUP155 SCN1B SCN2B SCN5A ZFHX3	10060 3784 463 4878 6324 6327 6331 9631 9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080855	Parkinsonism	ABAT ABCC8 ABCC9 BAD BDNF CASP9 CNR1 COMT COX1 CSF2 CX3CL1 DRD2 DRD3 EGFR ENO2 ESR1 GBA1 GDNF GFRA1 GFRA2 GRM8 GSK3A HSPA1A HSPA9 KCNJ11 LRRK2 MAPT MMP3 NDUFS3 NFKB2 NGF NGFR NOS1 NTRK1 PARK7 PINK1 PTGS2 RELA RET SHH SLC11A2 SLC17A8 SLC6A3 SLC6A4 SRC TNFRSF1B VDAC1	10060 11315 120892 1268 1312 1437 18 1813 1814 1956 2026 2099 246213 2629 2668 2674 2675 2918 2931 3303 3313 3767 4137 4314 4512 4722 4791 4803 4804 4842 4891 4914 572 5743 5970 5979 627 6376 6469 65018 6531 6532 6714 6833 7133 7416 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:11446	sciatic neuropathy	ABCC8 ABCC9 AGT AKAP12 AMIGO3 APOA1 APOE BDKRB1 BDKRB2 BDNF C3 CACNA1D CACNA1H CACNA1I CAPN1 CASP7 CAT CCL2 CCL5 CDKN1B CERS2 CNR2 CREB1 CYP11A1 CYP17A1 DBN1 FAS FGFR1 FTO FUBP1 GC GDNF GFRA1 GFRA3 GPX3 GRIN1 GRIN2B GSK3B HGF HMGB1 HRH3 HSD3B1 ICAM1 IL10 IL1RN IL6 IL6R JAK1 JAM3 KARS1 KCNC4 KCNJ11 LAMP2 LRP1 MAG MAP2 MC4R MMP9 MPZ MTOR NEFH NEFL NEFM NF1 NGFR NLGN2 NLGN3 NRG1 OPRL1 OPRM1 PCNA PCSK5 PDGFRA PDGFRB PLAT PLAU PMP22 PPARGC1A PTAFR QARS1 RANBP1 RANGAP1 REG3G RGMA SCN10A SERPINE1 SERPINF1 SLC17A8 SNW1 SOD1 TIMP3 TLR4 TNF TNFRSF1A TNFRSF1B	10060 1027 10891 11255 1269 130120 1385 1583 1586 1627 183 2260 22938 246213 2475 2638 2668 2674 2676 2878 2902 2904 2932 29956 3082 3084 3146 3283 335 3383 348 355 3557 3569 3570 3586 3716 3735 3749 3767 386724 3920 4035 4099 4133 4160 4318 4359 4741 4744 4747 4763 4804 4987 4988 5054 5111 5125 5156 5159 5176 5327 5328 5376 54413 56963 5724 57555 5859 5902 5905 623 624 627 6336 6347 6352 6647 6833 7078 7099 7124 7132 7133 718 776 79068 823 83700 840 847 8880 8911 8912 9590	Homo sapiens (human)	Alliance of Genome Resources
DOID:13711	dental fluorosis Aliases: Intrinsic enamel discolouration of fluorosis Mottled teeth Mottling of enamel	DNM1L	10059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111438	optic atrophy 5 Aliases: OPA5	DNM1L	10059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070347	encephalopathy due to defective mitochondrial and peroxisomal fission 1	DNM1L	10059	Homo sapiens (human)	Alliance of Genome Resources
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	ACE AGER AGT ALOX5 ANXA1 AP3B1 B3GAT1 BAD BDKRB1 BDNF CAT CCL11 CCL2 CCN2 CCR4 CCR5 CD36 CDH1 CHI3L1 CHRM3 COL1A1 COL1A2 CSF2 CYSLTR1 DEFB1 DNM1L EDN1 EGFR EGR1 ELANE HABP2 HGF HSP90AB1 HSPD1 ICAM1 IGFBP3 IGFBP5 IL13 IL15 IL17A IL18R1 IL1A IL1RN IL4 JAG1 MBL2 MMP1 MMP9 MUC5AC NFE2L2 NGF NOTCH1 PDGFRA PLAU PTGS2 SERPINE1 SFTPA1 SFTPB SFTPC SMAD4 STAT1 TFPI TGFB1 TGFBR2 TIMP1 TLR9 TNF TWIST1 VWF	10059 10800 1116 1131 1233 1234 1277 1278 1437 1490 1636 1672 177 182 183 1906 1956 1958 1991 240 27087 301 3026 3082 3326 3329 3383 3486 3488 3552 3557 3565 3596 3600 3605 4089 4153 4312 4318 4586 4780 4803 4851 5054 5156 5328 54106 572 5743 623 627 6347 6356 6439 6440 653509 6772 7035 7040 7048 7076 7124 7291 7450 847 8546 8809 948 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:784	chronic kidney disease Aliases: CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic	AGER AGTR1 AGTR2 AKAP12 APOA4 APOC3 AZGP1 CBR1 CLU COL6A3 CPB2 DGAT1 DGAT2 DNM1L FGF23 GP1BA GPX1 GRP HAVCR1 HMGCR HP HPR IL1RN INSR KL KLK1 LEPR MAP3K7 MAS1 MYH9 NFE2L2 NOS3 NPPA NPPB NR4A1 OPA1 PCSK2 POSTN RBP4 SALL1 SHH SHROOM3 SLC19A1 SLC19A2 SLC19A3 SLC34A1 SLC46A1 SYNPO TERT TLR9 VCAM1	10059 10560 10631 113235 11346 1191 1293 1361 177 185 186 26762 2811 2876 2922 3156 3164 3240 3250 337 345 3557 3643 3816 3953 4142 4627 4780 4846 4878 4879 4976 5126 54106 563 57619 5950 6299 6469 6569 6573 6885 7015 7412 80704 8074 84649 8694 873 9365 9590	Homo sapiens (human)	Alliance of Genome Resources
DOID:10652	Alzheimer's disease Aliases: Alzheimer disease Alzheimers dementia	A2M ABAT ABCA1 ACADVL ACE ACHE ADAM10 ADAM17 ADAM2 ADAM9 ADIPOQ ADRA1A ADRB3 AGER AGT AGTR1 AIFM1 AKR7A2 ALDH2 ALOX15 ANK2 ANXA5 AOC3 APBB1 APC APLP1 APLP2 APOA1 APOA4 APOD APOE APP AQP4 ASS1 ATF2 ATM ATP5F1A ATP7A ATR BACE1 BACE2 BAD BAIAP2 BARHL1 BAX BCHE BDNF BPTF C2 C3 C5AR1 CALML5 CAMK2A CAPN1 CASP6 CASP7 CASP9 CAST CCL5 CCR1 CCR5 CD36 CD40LG CDC42 CDK5 CDK7 CEBPB CFTR CHAT CHRNA4 CHRNA7 CLOCK CLU CTNNB1 CTSD CTSS CYP19A1 CYP46A1 CYP51A1 DBN1 DLST DNM1 DNM1L DRD1 DRD2 DRD3 DRD4 DRD5 DYNC1H1 E2F1 ECE1 EEF1A2 EEF2 EGF EGR1 EIF2AK2 EIF2S1 ELK1 ENO1 EP300 EPHA4 EPO EPOR ESR1 FADD FAS FGFR1 FOXO3 GAPDH GAPDHS GCG GDNF GLUD1 GLUL GNAS GRIN1 GRIN2A GRIN2B GRN GSK3B GSTO1 GSTO2 HADHA HADHB HBA1 HBA2 HFE HIF1A HIVEP1 HIVEP2 HIVEP3 HLA-DRB1 HMGCR HNRNPA1 HNRNPA2B1 HRAS HSD17B10 HSD17B3 HSD3B2 HSF1 HSP90AA1 HSPA1A HSPA1B HSPA9 HSPB1 HSPD1 HTR1A HTR2A ICAM1 IGF1R IGF2 IGFBP2 IGFBP3 IKBKB IL10 IL1A IL2 IL3 IL4 IL6 IL6R IL6ST IL7 INS INSR IREB2 IRS1 IRS2 ITPR1 KCNC4 KCNMA1 KLK6 L1CAM LDLR LEP LIPC LPA LPL LRP1 LRP8 LRPAP1 MAOA MAP2 MAPK14 MAPK9 MAPT MBL2 MCM2 MME MMP2 MMP9 MRE11 MT1E MT1H MT2A NBN NCAM1 NCSTN NDUFB8 NDUFS3 NECTIN2 NEFL NEFM NFE2L2 NGF NGFR NOS1 NOS2 NOS3 NOTCH4 NRG1 NRP1 NTF3 NTRK1 NTRK2 OPA1 PAK1 PARP1 PAWR PCK1 PCMT1 PCSK1N PDGFB PEBP1 PHACTR2 PITRM1 PLAU PLCB1 PLCD1 PLCG1 PON1 PON2 PON3 PPARA PPARG PPARGC1A PPP1R9B PSMC5 PTGS1 PTGS2 RCOR1 REG1A RELN SELL SELP SERPINE2 SERPINF1 SIRT1 SIRT3 SLC18A3 SLC2A1 SLC2A3 SLC8A1 SLC8A2 SLC8A3 SNAP91 SNCA SNCB SNCG SNRNP70 SNRPA SOD1 SOD2 SORL1 SOX13 SOX5 SOX6 SPINT1 STAT3 SYP TARDBP TBP TFAM THBD TLR4 TM2D1 TM2D2 TM2D3 TMED10 TNF TNFRSF1A TNFRSF1B TOMM40 TPH1 TSC2 TTR UQCRC1 VEGFA VIM VLDLR XRN1	10059 102 1020 1022 10452 10458 1051 10531 1080 10858 10891 10972 1103 1137 1139 1191 119391 1230 1234 1386 142 1432 148 1499 1509 1520 155 1588 1595 1627 1636 1743 1759 177 1778 18 1812 1813 1814 1815 1816 183 185 1869 1889 19 1917 1938 1950 1958 1965 2 2002 2023 2033 2043 2056 2057 2099 217 2186 2260 2309 23186 23236 23385 23410 23411 23435 23621 246 2515 25825 2597 26330 2641 2668 27344 2746 2752 2778 287 2896 2902 2903 2904 2932 3028 3030 3032 3039 3040 3077 308 3084 3091 3096 3097 3123 3156 3178 3181 322 324 3265 3284 3293 3297 3303 3304 3313 3315 3320 3329 333 334 335 3350 3356 337 3383 347 348 3480 3481 3485 3486 351 355 3551 3552 3558 3562 3565 3569 3570 3572 3574 3586 361 3630 3643 3658 3667 37 3708 3749 3778 3897 3949 3952 3990 4018 4023 4035 4043 4128 4133 4137 4153 4171 43 4311 4313 4318 4361 445 4493 4496 4502 4683 4684 4714 472 4722 4741 4747 4780 4803 4804 4842 4843 4846 4855 4908 4914 4915 4976 498 5037 5058 5074 5105 5110 5155 5176 51806 5270 5328 5333 5335 538 5444 5445 5446 54464 545 5465 5468 55553 5601 5610 5649 5653 56751 5705 572 5742 5743 581 5819 590 59269 5967 627 6352 6402 6403 6513 6515 6543 6546 6547 6572 6620 6622 6623 6625 6626 6647 6648 6653 6660 6692 6774 6855 6868 6908 7019 7056 7099 7124 7132 7133 7166 717 718 7249 7276 728 7384 7422 7431 7436 7804 80213 815 823 831 83877 839 83941 840 842 84687 8574 8639 8660 8754 8772 8829 9131 9370 9446 948 9575 9580 959 9749 9892 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	ABCC9 ACE ACTC1 ADRB1 ADRB2 AGT AGTR1 AGTR2 APOE BAG3 BAX CACNG8 CAP2 CASP9 CAT CD40 CDK8 CENPF COL15A1 COL18A1 CS CTSL CTSV CXCR3 CYP1A1 CYP2C19 DAG1 DES DICER1 DLL1 DLL4 DMD DNER DNM1L DSC2 DSG2 DSP DYRK1A ECE1 EDN1 EEF1A1 EEF1A2 EGFR EMD ERBB2 EYA4 FADS2 FAS FKRP FLNC GDF1 GPX1 HFE HLA-DQB1 HP ICAM1 ICAM3 ICAM4 IL10 IL13RA2 IRF4 ITPR1 JAG1 JAG2 LDB3 LEPR LMNA LMOD2 LTBP2 MAP3K7 MAS1 MBNL1 MBNL2 MED1 MEF2A MMP14 MMP1 MMP2 MRGPRD MYH15 MYH1 MYH7 NCOA6 NEBL NFATC4 NOS2 NPPA NPPB NR2F2 OBSCN ORAI1 ORAI3 PDCD1 PDLIM5 PHC1 PPARGC1A PPP3CA PRKCA PTGER4 PTPN11 RAB1A RANBP1 RBM20 RBM24 RBP4 RBPJ RPS6KB1 RTF1 RTTN SNAI1 SOD2 SP4 SRF STIM1 STIM2 TIMP3 TNF TNNI3 TP53 TRDN TTN VCL VEZF1 YME1L1	10059 10060 10150 1024 10345 10486 10529 10611 1063 10730 10891 11155 116512 1306 1431 1514 1515 153 154 1543 1557 1605 1636 1674 1756 182 1824 1829 183 1832 185 1859 186 1889 1906 1911 1915 1917 1956 2010 2064 2070 221662 22989 23054 23168 2318 23405 25914 2657 282996 2833 28514 2876 3077 3119 3240 3383 3385 3386 348 3516 355 3586 3598 3662 3708 3714 3953 4000 4053 4142 4154 4205 4312 4313 4323 442721 4619 4625 4776 4843 4878 4879 5133 54567 5469 5530 5578 5734 57620 5781 581 5861 5902 59283 5950 6198 6615 6648 6671 6722 6786 6885 70 7026 7078 7124 7137 7157 7273 7414 7716 79147 80781 84033 842 847 84876 92737 93129 9415 9531 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060304	dyschromatosis universalis hereditaria	ABCB6	10058	Homo sapiens (human)	Alliance of Genome Resources
DOID:1793	pancreatic cancer Aliases: Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor	A4GNT ABCC2 ABCC3 ABCC5 ABO ACVR1 ACVR1B ACVR2A ADAM15 ADAM9 ADGRE5 ADH1C ADM AGER AGTR2 AHR AKT1 ALB ALDH1A1 ALDH2 ALOX5 ANXA1 APC APOA1 APOE ARPC1A ARTN ATM ATR B3GALT5 BAD BAG3 BAG4 BRCA1 BRCA2 BUB1B CACYBP CAP1 CAPN10 CASP9 CAT CCKAR CCKBR CCR4 CDC42 CFTR CHEK1 CYP17A1 DPYD E2F1 EGF EGFR EIF4A3 EPHA3 EZH2 FANCG FASLG FLT3LG FSCN1 GDNF GNAS HGF HS3ST2 HSPB1 ICAM1 IFNG IGF1R IL10 IL13 IL13RA2 IL1A IL2 IL3 IL4 IL4R IL6 INS ITGA11 ITGA4 ITGA9 KDR KRAS L1CAM LIG3 LUM MAP2K4 MET MGAT4A MGMT MKI67 MMP2 MMP9 MPO MSLN MTAP MTOR MTR MUC16 MUC1 MUC4 MUC5AC MUC6 NCAM1 NGFR NOS2 NTRK1 NUF2 OGG1 PALB2 PALLD PDGFRA PFN1 PPARD PPARG PTCH1 PTGS2 RECQL RELA RET RUNX3 SEL1L SERPINA1 SF3B4 SLCO2B1 SMAD4 SMO SNCG SNW1 SOD1 SOD2 SPP1 TGFA TGFB1 TGFBR2 THBS1 TP53 TYMP UCK2 UGT1A7 VCAM1 WNT9A XPC XPO1 XRCC1	10057 10232 10262 10317 10487 10552 1080 1111 11132 11309 11320 1233 1244 126 133 1586 177 1806 186 1869 1890 1950 1956 196 2042 207 213 2146 216 217 2189 22801 22938 23022 2323 240 2475 2668 27101 2778 28 301 3082 324 3315 335 3383 3458 348 3480 3552 3558 356 3562 3565 3566 3569 3586 3596 3598 3630 3676 3680 3791 3845 3897 3980 4060 4089 4233 4255 4288 4313 4318 4353 4507 4548 4582 4585 4586 4588 4684 472 4804 4843 4914 4968 51146 5156 5216 5265 545 54577 5467 5468 572 5727 5743 5965 5970 5979 6400 6416 6608 6623 6624 6647 6648 6696 672 675 701 7039 7040 7048 7057 7157 7371 7412 7483 7508 7514 7515 79728 83540 842 847 864 8714 8751 8754 886 887 90 9048 91 92 94025 9530 9531 976 9775 9956 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:4231	histiocytoma	KLRC4-KLRK1 KLRK1	100528032 22914	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050656	pseudo-TORCH syndrome 1 Aliases: BLC-PMG BLCPMG Baraitser-Brett-Piesowicz syndrome Baraitser-Reardon syndrome PTORCH1 band-like calcification with simplified gyration and polymicrogyria bilateral band-like calcification with polymicrogyria microcephaly-intracranial calcification-intellectual disability syndrome	OCLN	100506658	Homo sapiens (human)	Alliance of Genome Resources
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	ABCB1 ADIPOQ ALOX12 ALPI APOA4 BPI CD40 CHRNA7 CLDN1 COL6A3 DUOX2 F13A1 F2 FCGR2A FCGR3A FGA FGF7 GC GPX1 HFE HLA-DPA1 HLA-DQB1 ICAM1 IFNG IL10 IL21R IL23R IL6 KDR LRRK2 MADCAM1 MBL2 MKI67 NOD2 OCLN PBRM1 PGF PIKFYVE PLAUR PON1 PON3 PRF1 PTGS2 SELL SLC11A1 SLC22A5 STAT3 THBD TNF TNFRSF1A TNFRSF1B UGT1A1 VEGFA VIPR1	100506658 1139 120892 1293 149233 200576 2147 2162 2212 2214 2243 2252 239 248 2638 2876 3077 3113 3119 337 3383 3458 3569 3586 3791 4153 4288 50506 50615 5228 5243 5329 5444 5446 54658 55193 5551 5743 6402 64127 6556 6584 671 6774 7056 7124 7132 7133 7422 7433 8174 9076 9370 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	ACE2 ACE ADIPOQ ADM ADRB3 AGER AGT AKR1B1 AKT1 ANGPT1 ANGPT2 AOC3 APOA4 APOB APOC3 APOE APOH AQP4 BDKRB1 BDNF CASP9 CAT CCL2 CCL5 CCN2 CD34 CD59 CDKAL1 CFB CFH CLDN1 CLU DLL4 EDN1 EGFR ELN ENG EP300 EPO F13A1 F3 F7 FLT1 FUCA1 GAPDH GC GGT1 GLO1 GLUL HFE HGF HIF1A HLA-B HLA-DQB1 HLA-DRB1 HRAS ICAM1 IGF1R IL10 IL1A IL6 INS INSR ITGA2 ITGA4 ITGAM ITGB3 KDM1A KEAP1 LTA MMP2 MMP9 NFE2L2 NGF NOS1 NOS3 NPPA NPR3 OCLN PDX1 PGF PIK3CG PON1 PPARGC1A PTEN RBP4 ROBO1 SERPINA4 SERPINE1 SERPINF1 SGF29 SLIT2 SOD1 SOD3 THBS1 TIMM44 TLR4 TNF VCAM1 VEGFA VPS26A VTN VWF WFS1 XRCC1	100506658 10469 10891 112869 1191 133 1490 155 1636 177 183 1906 1956 2006 2022 2033 2056 207 2152 2155 2162 23028 231 2321 2517 2597 2638 2678 2739 2752 284 285 3075 3077 3082 3091 3106 3119 3123 3265 337 338 3383 345 348 3480 350 3552 3569 3586 361 3630 3643 3651 3673 3676 3684 3690 4049 4313 4318 4780 4803 4842 4846 4878 4883 5054 5176 5228 5267 5294 5444 54567 54901 5728 59272 5950 6091 623 627 629 6347 6352 6647 6649 7057 7099 7124 7412 7422 7448 7450 7466 7515 842 847 8639 9076 9353 9370 947 9559 966 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	ACE ACVR2B ADD1 AGT AKR1C3 ALB APELA ARID1A ATP2B4 C3 CALB1 CCL5 CCN3 CD274 CD40 CD40LG CD46 CHI3L1 CLU COMT CORIN CREBBP CUBN CYP11B2 CYP24A1 CYP27B1 CYP2J2 CYP2R1 DNAH8 EBI3 EDN2 ENG ENTPD1 EPAS1 ERBB2 F2 F2R F3 F5 FAS FASLG FLT1 GATA2 GC GPX1 GPX3 GSN HIF1A HLA-A HLA-DQB1 HNF1A HP HSD11B1 ICAM1 IL1RN IL6 ITGA4 ITGAM ITPR1 ITPR2 ITPR3 KCNN4 LCN2 LEP LEPR MMP2 MMP9 NOS3 NOTCH2 NR1H3 OGG1 PDCD1 PDE5A PEG10 PGF PLAUR PPARG PROC PTGS1 PTPN2 RBP4 ROBO1 ROBO4 RYR1 RYR2 RYR3 SERPINA1 SERPINE1 SERPINF2 SLC2A1 TFPI TIMP1 TLR3 TLR4 TNF TNFRSF1B TRPV5 TRPV6 VEGFA	100506013 10062 10148 10699 1116 118 1191 120227 1312 1387 1573 1585 1591 1594 1636 1769 183 1907 2022 2034 2064 213 2147 2149 2152 2153 23089 2321 2624 2638 2876 2878 29126 2934 3091 3105 3119 3240 3290 3383 355 3557 356 3569 3676 3684 3708 3709 3710 3783 3934 3952 3953 4179 4313 4318 4846 4853 4856 493 4968 5054 5133 5228 5265 5329 5345 54538 5468 55503 5624 56302 5742 5771 5950 6091 6261 6262 6263 6352 6513 6927 7035 7076 7098 7099 7124 7133 718 7422 793 8029 8289 8644 8654 93 953 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:7188	autoimmune thyroiditis Aliases: Chronic Lymphocytic Thyroiditis Hashimoto thyroiditis Hashimoto's Disease Hashimoto's syndrome Hashimoto's thyroiditis Lymphocytic Thyroiditis	Ctla4 Gja1 H2-Aa H2-Ab1 H2-Ea H2-Eb1 Ifng Il4 Lrp2 Mbl2 Tg Tlr3	100504404 12477 142980 14609 14725 14960 14961 14969 15978 16189 17195 21819	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11716	prediabetes syndrome Aliases: Prediabetes impaired glucose tolerance prediabetic state	Calca Gcg H2-Ea Kcnj11 Ppargc1a Ptprn2 Slc4a2 Slc4a8	100504404 12310 14526 16514 19017 19276 20535 59033	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	Adh1 Atxn2 Eif4g1 Gba1 H2-Ea Mapt Pmpcb Psap Uqcrc1	100504404 11522 14466 17762 19156 20239 208643 22273 73078	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1205	allergic disease Aliases: allergic hypersensitivity disease hypersensitivity hypersensitivity reaction type I disease	Ace Akr1b1 Arhgap28 Cd14 Cysltr1 Fcgr4 H2-Aa H2-Ab1 H2-Ea H2-Eb1 Icam1 Il13 Lta	100504404 11421 11677 12475 14960 14961 14969 15894 16163 16992 246256 268970 58861	Mus musculus (house mouse)	Alliance of Genome Resources

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