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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 **26 - 50** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	ABAT ABCC8 ABCC9 ABO ACE2 ACE ACSM3 ACTC1 ADAMTS16 ADCY5 ADD1 ADD2 ADD3 ADM ADORA1 ADORA2A ADRA1A ADRA2A ADRB1 ADRB2 ADRB3 AGER AGT AGTR1 AGTR2 AHR AKT1 AKT2 ALDH2 ALOX12 ALOX5 ANGPT1 ANXA1 APOA1 APOE APP AQP1 AQP2 AQP4 AR ARNT ATF2 ATP1A1 ATP1A2 ATP2A3 ATP5F1A ATP6AP2 AVP AVPR1A AVPR2 B2M BAD BAX BCHE BDKRB1 BDKRB2 BMP2 BRCA1 C3 CACNB2 CASP9 CAST CAT CCL28 CCL2 CCL5 CCR5 CD14 CD36 CD82 CHGA CHI3L1 CHST12 CLCNKB CLOCK CLU CNR1 COL6A3 COMT CORIN CPS1 CREB1 CRHR1 CTSC CYBB CYP11A1 CYP11B1 CYP11B2 CYP19A1 CYP1A1 CYP1B1 CYP2C18 CYP2C9 CYP2J2 CYP2R1 CYP4A11 CYP4A22 CYP4F12 CYP4F2 CYP4F8 DBH DRD1 DRD2 DRD3 ECE1 EDN1 EDN2 EDNRA EDNRB EGFR EIF4G2 ENG ENO1 ENO2 ENTPD2 EP300 EPHX2 EPOR F11R F2R F3 F7 FADD FADS1 FBN1 FN1 FOS FTO GABBR1 GAL GCK GLCE GLP1R GNAI2 GNAI3 GNAS GPX1 GPX3 GRK3 GSK3B GSTM2 H2AX HAVCR1 HDAC6 HGF HIF1A HK2 HLA-DQA1 HP HPR HRH3 HSD11B1 HSD11B2 HSD17B4 HSD3B1 HSD3B2 HSPA8 HSPD1 HSPG2 HTR1B HTR2A ICAM1 IGF1R IGFBP2 IKBKB IL10 IL17A IL1RN IL6 IL6R IL6ST INPPL1 INS INVS ITGA9 ITGAV JUN KCNA3 KCNJ11 KCNMB1 KCNN4 KCNQ1 KDR KL KLK1 KLKB1 LDHA LEP LEPR LGALS3 LINC02210-CRHR1 LIPG LOX LPL LRP2 LTA MAS1 MIF MME MMP1 MMP2 MMP9 MOV10 MTOR MTR MYH7 MYO6 NFE2L2 NGF NGFR NOS1 NOS2 NOS3 NOX4 NPHP3 NPPA NPPB NPPC NPR1 NPR3 NPY1R NR2F2 NR3C1 OGG1 OLR1 OPA1 OXTR PAPPA PDGFB PDGFRA PDGFRB PGF PKM PLCD1 PLEKHA7 PON1 POSTN PPARA PPARG PRKCA PRKG1 PRLHR PTGDS PTGIS PTGS2 PTK2 PTPN1 PTPRC PTPRD PTPRJ RAMP2 RBP4 RELA REN RHOA RNPEP S1PR1 SERPINA1 SERPINE1 SERPINE2 SERPINF2 SLC12A2 SLC2A14 SLC2A1 SLC2A3 SLC4A4 SLC5A2 SLC6A19 SLC6A2 SLC6A3 SLC8A1 SLC9A3 SOD1 SOD2 SOD3 SQSTM1 SRC SRF STS TACR3 TBXAS1 TF TGFB1 TGFB3 THBD TIMP1 TJP2 TNF TNFRSF11B TRHR UCP2 UCP3 UGCG UTS2R VCAM1 VEGFA VWF WNK1 XRCC1 YWHAZ	10013 10060 10159 10266 104909134 10631 10699 1075 111 1113 1116 11255 11283 118 1188 119 1191 120 120227 1234 1268 1293 1312 133 134 135 1373 1385 1386 1394 144100 144195 148 150 153 1536 154 1543 1545 155 1559 1562 157 1573 1579 1583 1584 1585 1588 1621 1636 170690 177 18 1812 1813 1814 183 185 186 1889 1901 1906 1907 1909 1910 1956 196 1982 2022 2023 2026 2033 2053 2057 207 208 2149 2152 2155 217 2200 2335 2353 239 240 2475 2550 26035 2645 26762 27031 27130 2740 2771 2773 2778 28 2834 2837 284 284541 2876 2878 2908 2932 2946 301 3014 3082 3091 3099 3117 3240 3250 3283 3284 3290 3291 3295 3312 3329 3339 335 3351 3356 3383 340024 348 3480 3485 351 3551 3557 3569 3570 3572 358 3586 359 3605 361 3630 3636 367 3680 3685 3725 3732 3738 3767 3779 3783 3784 3791 3816 3818 387 3939 3952 3953 3958 3992 4015 4023 4036 4049 405 412 4142 4282 4311 4312 4313 4318 4343 4548 4625 4646 476 477 4780 4803 4804 4842 4843 4846 4878 4879 4880 4881 4883 4886 489 4968 4973 4976 498 4982 5021 50507 5054 5069 50848 51083 5155 5156 5159 5228 5265 5270 5315 5333 5345 5444 5465 5468 551 552 554 55501 5578 5592 56477 567 572 5730 5740 5743 5747 5770 5788 5789 5795 581 590 59272 5950 5970 5972 6051 623 624 6296 6347 6352 650 65125 6513 6515 6524 6530 6531 6546 6550 6558 66002 6647 6648 6649 6714 672 6722 6833 6870 6916 70 7018 7026 7040 7043 7056 7076 7124 718 7201 7351 7352 7357 7412 7422 7450 7515 7534 783 79068 831 842 847 8529 8671 8772 8878 929 9365 9388 9414 948 954 9575	Homo sapiens (human)	Alliance of Genome Resources
DOID:9970	obesity	AACS ABCA1 ABCG5 ABCG8 ACACB ACAT1 ACE ACOX1 ACSL1 ADAMTS20 ADAMTS4 ADAMTS8 ADAMTS9 ADIPOQ ADM ADORA1 ADRB2 ADRB3 AGER AGT AHSG AKR1C1 AKR1C2 AKT2 ALDH1A1 ALDH1A2 ALDH1B1 ALDH2 ALMS1 ALOX12 AMH ANGPTL6 ANKRD26 AOC3 APOA1 APOA2 APOB APOC2 APOC3 APOD APOE APP AR ASIP ATP4B ATP5F1B ATP5F1C AZGP1 B2M BAD BBS2 BDNF BMP5 BMP6 BMP7 BMP8A BMP8B C3 C5AR1 CADM2 CANX CAPN10 CAPN3 CCKAR CCL2 CCL5 CCL7 CCR3 CD36 CD40 CD40LG CDKN1B CNR1 COL1A1 COL3A1 COL4A1 COMT CORO7 CPB2 CPE CPS1 CPT1A CRHBP CRHR1 CTNNB1 CTSC CYP27B1 CYP2B6 CYP2E1 CYP2R1 DCHS1 DCHS2 DCN DEFB1 DEGS1 DEGS2 DGAT1 DNAH10 DRD1 DRD2 DRD4 EDN1 EIF6 ENPP1 ESR1 ETV1 F2 F7 FADD FADS1 FAT4 FGFR1 FGG FJX1 FOXO3 FTO G6PD GABRA6 GAL GALR1 GAPDH GCK GFPT1 GHRL GHSR GIPR GLP1R GLRX GLUL GNAS GNL3 GNRHR GORASP2 GPAM GPR12 GPX1 GPX3 GSTM2 GUCY2C HADH HDAC4 HDAC6 HFE HGF HIF1A HK1 HK2 HMGCS1 HP HPR HRH3 HSD11B1 HSD11B2 HSD17B12 HSD17B3 HSD17B4 HSPA1B HTR1B HTR2A HTR2C ICAM1 IFNG IGF1R IGFBP2 IGFBP3 IGFBP6 IL10 IL15 IL1RN IL3 IL6 IL6R INPP5E INPPL1 IRS1 ITGAM ITIH4 ITPR1 ITPR2 ITPR3 JUP KDM3A LBP LCN2 LEF1 LEP LEPR LIPC LIPG LPIN1 LPIN2 LPIN3 LPL MAPT MBL2 MC3R MC4R MCHR1 MED12 MED13 MED13L MIF MMP9 MTOR MYC NAMPT NCOA1 NCOA3 NEIL1 NFE2L2 NMB NMU NMUR1 NMUR2 NNT NOS1 NOS2 NOS3 NOTCH1 NOTCH2 NOTCH3 NOTCH4 NOX4 NPPA NPPB NPY1R NPY2R NPY5R NR1H3 NR3C1 NR3C2 NRF1 NUCB2 OPRM1 OXCT1 PCSK1 PCSK1N PDE3A PDP1 PDX1 PGF PGR PLAT PLAUR PLCB1 PLCB2 PLCB3 PLIN1 PLIN2 PLIN3 PLIN5 PLXNB1 PLXNB2 PLXNB3 PLXND1 PNLIP PNPLA2 PNPLA3 POMC PON2 PPARA PPARG PPARGC1A PPARGC1B PRKAA1 PRKAA2 PRKG1 PRL PRLHR PSMC3 PTPRF PUM1 PUM2 RAB7A RARRES2 RB1 RBP4 RELA REN RHOA RPS6KB1 SCP2 SDC1 SDC3 SDK1 SDK2 SEC16A SELP SERPINA12 SERPINF1 SFTPA1 SFTPA2 SFTPB SGPL1 SIRT1 SIRT3 SIRT6 SLC10A1 SLC15A1 SLC15A2 SLC2A1 SLC6A14 SLC6A3 SLC9A3 SNAP25 SOCS3 SORBS1 SPHK1 SPHK2 SRD5A1 SREBF2 STAT1 STAT3 STAT4 STIM1 STIM2 STK4 TBC1D5 TCF12 TCF3 TCF4 TF TFAM TGFB1 THADA THBD THBS1 TIMP1 TLR4 TNF TNFRSF1A TSC1 TUB TYK2 UCP2 UCP3 VWF WDTC1 WNT10B WNT1 ZFHX2 ZFHX3 ZFHX4	10013 10062 10135 10226 1027 10316 10580 1075 10874 10891 11095 11132 11254 11255 120227 123 123099 1232 1268 1277 1281 1282 1312 133 133522 134 1361 1363 1373 1374 1393 1394 145264 1499 154 155 1555 1571 1594 1634 1636 1645 1646 1672 177 1812 1813 1815 183 19 1906 196385 197 208 2099 2115 2147 2155 216 217 2180 219 221935 2260 2266 22852 23038 2309 23129 23175 23236 23369 23389 23410 23411 23530 23654 239 24147 2475 253559 2539 2559 2587 2597 26003 26354 2645 2673 268 2693 2696 27344 2740 2745 2752 2778 2798 2834 2835 2847 2876 2878 2908 2946 2984 3033 3077 3082 3091 3098 3099 3157 32 3240 3250 3290 3291 3293 3295 3304 335 3351 3356 3358 336 338 3383 344 345 3458 347 348 3480 3485 3486 3489 351 353500 3557 3562 3569 3570 3586 3600 3636 3651 3667 367 3684 3692 3700 3708 3709 3710 3728 38 387 3929 3934 3952 3953 3990 3992 4023 4137 4153 4159 4160 4282 4306 4318 434 440503 4609 463 4780 4828 4842 4843 4846 4851 4853 4854 4855 4878 4879 4886 4887 4889 4899 4925 496 4988 5019 50507 506 509 51 51083 51144 51176 5122 5139 51548 5167 51738 5176 5228 5241 5327 5329 5330 5331 5346 5364 5365 5406 5443 5445 54549 5465 5468 54704 54798 5562 5563 55818 5592 5617 563 56623 567 56848 56923 56999 5702 57104 572 57620 57678 5792 583 5919 5925 5950 5970 5972 6198 627 6342 6347 6352 6354 6382 63892 6403 64240 64241 6439 64900 6513 653 6531 653509 654 655 6550 6554 656 6564 6565 65985 6616 6715 6721 6772 6774 6775 6786 6789 6925 6929 6938 7018 7019 7040 7056 7057 7076 7099 7124 7132 718 7248 7275 728 729238 7297 7351 7352 7450 7471 7480 7840 7879 79068 79585 79633 79661 79776 80070 80339 8202 821 825 83854 85446 8560 8639 8642 8648 8694 8772 8854 886 8877 8879 9021 9370 9388 948 9507 958 959 9663 9672 9698 9759 9779 9919 9968 9969	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080322	polycystic kidney disease	AGT ATF1 C9 CFB CTSB CTSH DLL4 EPAS1 GANAB GNAS GPBAR1 HDAC6 HIF1A KIF3A MTOR MYC NOS3 NPPB PKD1 PKD2 PLA2G4A PPARG PTGS1 PTGS2 PTMA SOD1 STAM2 TNC XYLT2	10013 10254 11127 1508 1512 151306 183 2034 23193 2475 2778 3091 3371 4609 466 4846 4879 5310 5311 5321 54567 5468 5742 5743 5757 629 64132 6647 735	Homo sapiens (human)	Alliance of Genome Resources
DOID:8991	cervix uteri carcinoma in situ Aliases: CIN III CIN III - carcinoma in situ of cervix CIN III - severe dyskaryosis Cervix Ca in situ Severe Dysplasia of the Cervix Uteri Severe dysplasia of cervix carcinoma in situ of cervix carcinoma in situ of uterine cervix carcinoma of cervix stage 0 cervical intraepithelial neoplasia grade III with severe dysplasia squamous intraepithelial neoplasia, grade III	ADAM9 BRCA1 CADM1 CD274 CD46 CDH1 CDKN1B CSF1R CTNNA1 DLG1 FASLG HDAC1 HDAC2 HDAC6 HLA-DRB1 IGFBP3 MLH1 MMP2 MSH2 PDCD1 PHB1 PTEN PTGS2 RB1 RELA SKP2 STAT3 TERT TLR9 TOP2A VEGFA XIAP	10013 1027 1436 1495 1739 23705 29126 3065 3066 3123 331 3486 356 4179 4292 4313 4436 5133 5245 54106 5728 5743 5925 5970 6502 672 6774 7015 7153 7422 8754 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	ABCC2 ADRB2 ALB ALOX5 ANXA2 APC APOA1 ASPH EPO EPOR EZH2 FASLG FSCN1 GNAS HDAC6 HGF IL1R2 IL4R IL6 INS KIT KRT7 MDM2 MET MFSD4A MGMT MKI67 MMP2 MMP9 MUC16 MUC1 MUC2 MUC3A MUC4 MUC5AC MUC5B MUC6 NCAM1 NOS2 NOTCH1 OGG1 OSBP2 OSBPL7 PANX2 PAWR PPIA PPP3CA PREX2 PRSS2 PRSS56 PTGS2 REG1A RNF43 RUNX3 SLC4A4 SLC7A5 SOCS3 SOX2 TGFB1 TGFBR2 THBS1 TNC TNFAIP3 TTR UGT1A9 WDHD1 WNT9A	10013 11169 114881 1244 148808 154 2056 2057 213 2146 23762 240 2778 302 3082 324 335 3371 356 3566 3569 3630 3815 3855 4193 4233 4255 4288 4313 4318 444 4582 4583 4584 4585 4586 4588 4684 4843 4851 4968 5074 54600 5478 54894 5530 5645 56666 5743 5967 646960 6624 6657 7040 7048 7057 7128 7276 727897 7483 7850 80243 8140 864 8671 9021 94025	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112106	chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia Aliases: X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome	HDAC6	10013	Homo sapiens (human)	Alliance of Genome Resources
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	A2M ACAN ACHE ADIPOQ AGER AGT APOA1 APOC2 B4GALT5 B4GALT6 BDNF CACNA1B CCL1 CCL2 CCL5 CCL7 CCR3 CCR5 CD24 CD28 CD40 CD46 CD86 CIITA CLEC16A COL1A1 CTLA4 CTSB EDN1 FAS FASLG FCGR2A FCGR3A GABRA3 GC GLI1 GRM8 GRN H6PD HDAC1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 HLA-DRB3 HSP90AB1 HSPA8 IFNB1 IFNG IGF2 IL13 IL17A IL21R IL23R IL2RA IL4 IL4R IL6 IRF5 JAG1 KIF1B LRCH1 MAG MBP MMP12 MMP9 MOG MPHOSPH9 NECTIN2 NEFH NEFL NGFR NOTCH4 PDCD1 PHACTR2 PLA2G7 PRF1 PTPRC RGMA RHOA SHH SLC11A1 SPP1 TLR4 TNF TNFRSF1A	100133941 10198 1232 1234 1277 149233 1493 1508 176 177 182 183 1906 2 2212 2214 23095 23143 23274 2556 2638 2735 2896 2918 3065 3115 3117 3119 3122 3123 3125 3312 3326 335 344 3456 3458 3481 355 3559 356 3565 3566 3569 3596 3605 3663 387 4099 4155 4179 4261 43 4318 4321 4340 4744 4747 4804 4855 50615 5133 5551 56963 5788 5819 627 6346 6347 6352 6354 6469 6556 6696 7099 7124 7132 774 7941 9331 9334 9370 940 942 9563 958 9749	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070296	primary autosomal recessive microcephaly Aliases: MCPH	ASPM DYNC1I2 KIF14 KNL1 LMNB1 LMNB2 NCAPD2 NCAPD3 PDCD6IP TRAPPC14 WDR62	10015 1781 23310 259266 284403 4001 55262 57082 84823 9918 9928	Homo sapiens (human)	Alliance of Genome Resources
DOID:1588	thrombocytopenia	ACTB ANKRD26 CCL2 F7 FCGR2A FGA FLI1 FYB1 GALE GNE IL10 IL6 ITGA2 ITGA2B ITGB3 KDSR MASTL MBL2 MPL MYH9 PTPRJ SRC TBXA2R THPO TNF	10020 2155 2212 2243 22852 2313 2531 2533 2582 3569 3586 3673 3674 3690 4153 4352 4627 5795 60 6347 6714 6915 7066 7124 84930	Homo sapiens (human)	Alliance of Genome Resources
DOID:3659	sialuria	GNE SLC17A5	10020 26503	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	GNE	10020	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:11119	Gilles de la Tourette syndrome Aliases: Guinon's disease Psychogenic tics Tourette syndrome motor-verbal tic disorder	BAIAP2 DRD2 DRD4 HCN4 MET SLC6A3 SLITRK1	10021 10458 114798 1813 1815 4233 6531	Homo sapiens (human)	Alliance of Genome Resources
DOID:1827	idiopathic generalized epilepsy Aliases: Generalised epilepsy	DNM1 GABRA1 HCN4 KCNMA1	10021 1759 2554 3778	Homo sapiens (human)	Alliance of Genome Resources
DOID:13884	sick sinus syndrome Aliases: sinus node infection	AGT ANK2 HCN1 HCN4 SCN5A	10021 183 287 348980 6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110225	Brugada syndrome 8 Aliases: BRGDA8	HCN4	10021	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060041	autism spectrum disorder	ABCA3 ARHGAP32 ASH1L AVPR1B BAIAP2 BCL11A BDNF BORCS8-MEF2B BRINP1 CADM2 CAMK2A CASK CFL1 CHD1 CHD2 CHD6 CHD7 CHD8 CHD9 CHRNB2 CNTNAP1 CNTNAP2 CNTNAP3 CNTNAP3B CNTNAP4 CNTNAP5 COMT CREB1 CREBBP CSDE1 CTNNB1 CTNND1 CTNND2 CUL3 CYFIP1 DLGAP4 DSCAM DSCAML1 DYRK1A EIF4B EIF4E ELP2 EN2 EXT1 FMR1 FOXP2 FXR1 FXR2 GABRB3 GAD1 GAD2 GRIN1 HTR2A HTR2B HTR2C IHH ITGA4 ITPR3 KDM5B KMT5B KMT5C LAMC1 LAMC2 LAMC3 LRBA LRFN2 MAOA MBD5 MBD6 MEF2A MEF2B MEF2C MEF2D MET MMP9 MOCOS NAA15 NAA16 NBEA NDST1 NDST2 NDST3 NDST4 NLGN1 NLGN2 NLGN3 NLGN4X NLGN4Y NR3C2 NRCAM NRP2 NRXN1 NRXN2 NRXN3 OPRL1 OPRM1 PAK2 PDGFRB PIANP PKP2 PKP4 POGZ PREX1 PRICKLE1 PTEN RIMS1 RIMS2 SCAMP1 SCAMP2 SCN1A SCN2A SHANK1 SHANK2 SHH SLC25A12 SLC6A2 SLC6A3 SLC6A4 SLC7A5 SLC9A9 SRSF11 SSBP2 SSBP3 SSBP4 SYN1 SYN2 SYN3 SYNGAP1 TAOK1 TAOK2 TBR1 TCF20 TMPRSS9 TPH1 TRPC4 TRPC5 TSC1 TSC2 TSHZ3 UBE3A VRK3 WDFY3 WDR75 ZNF280B ZNF280D	100271849 10066 10319 10458 10716 1072 10765 1105 1106 1141 114785 129684 1312 1385 1387 140883 144165 1499 1500 1501 1620 170463 1826 1859 196500 1975 1977 2020 21 2131 22829 22839 22871 22941 22999 23001 23126 23191 2332 23635 23648 253559 2562 2571 2572 26047 26960 285195 2902 3340 3356 3357 3358 3549 360200 3676 3710 3915 3918 4128 4205 4207 4208 4209 4233 4306 4318 4897 4987 4988 5062 50944 51111 51231 5159 5318 53335 54413 54816 55034 55250 553 55636 55777 55870 5728 57453 57497 57502 57551 57555 57580 57616 57680 627 6323 6326 64579 6469 6530 6531 6532 6853 6854 6942 7166 7223 7224 7248 7249 728577 7337 7812 79612 79937 80155 80205 8087 8140 815 8224 84128 84181 8452 84787 8502 8506 8509 85445 8573 8604 8828 8831 9295 9344 9348 9369 9378 9379 93986 9513 9522 9699 9743 987	Homo sapiens (human)	Alliance of Genome Resources
DOID:1059	intellectual disability	ACSL4 AGTR2 ANK2 ARHGEF6 ATF7IP2 ATF7IP ATP6V0C ATRX BOD1 BOD1L1 BORCS8-MEF2B CAPN3 CASR CC2D1A CC2D2A CDK13 CDKL5 CHKB CNTNAP2 CUL4B DMD DRD4 DYRK1A EIF4A3 ELP2 GATAD2A GATAD2B GPI GPM6A GPM6B HIVEP2 HPN IL1RAPL1 IMPA1 IRS1 IRS2 IRS4 ITGA2B ITGA5 ITGA8 ITGAV ITSN2 KANSL1 KDM5B KRAS MEF2A MEF2B MEF2C MEF2D NAA15 NAA16 NDST1 NDST2 NDST3 NDST4 NONO NSUN2 PLP1 POGZ PRSS12 PSMB1 PUS7 RB1 RBL2 RPGRIP1L RPS6KA3 RYK SARS1 SFN SLC6A8 SMC3 TSC1 UBE3A UBR4 WDR62 YWHAQ YWHAZ ZC3H14 ZNF280B ZNF280D	100271849 10765 10971 11141 1120 140883 1756 1815 1859 186 2182 23126 23322 23352 259282 26047 2810 2821 2823 2824 284058 284403 287 3097 3249 3340 3612 3667 3674 3678 3685 3845 4205 4207 4208 4209 4841 50618 527 5354 54517 546 54815 54816 54862 54888 55250 55729 5689 57459 57545 5925 5934 6197 6259 6301 64579 6535 6792 7248 7337 7534 79612 79882 80063 80155 825 8450 846 8471 8492 8509 8516 8621 8660 9126 91272 9348 9459 9775	Homo sapiens (human)	Alliance of Genome Resources
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	CAST CFL1 CHUK COL1A2 CRHR2 CTSL CTSV DAG1 DMD GHR HSF1 HSP90AB1 IKBKB KRAS MSTN MTMR4 MTOR NEDD4 NR3C1 RELB RPS6KB1 SERPINE1 SGCA TFRC TGIF1 TIMM23 TRIM63	100287932 1072 1147 1278 1395 1514 1515 1605 1756 2475 2660 2690 2908 3297 3326 3551 3845 4734 5054 5971 6198 6442 7037 7050 831 84676 9110	Homo sapiens (human)	Alliance of Genome Resources
DOID:9074	systemic lupus erythematosus Aliases: Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus	ADAMTS13 AGER APOA1 C1QA C2 C3 C4A C4B C4B_2 CAST CCL2 CCR3 CCR5 CD40 CD40LG CD46 CD80 CFH CHAF1A CIITA CLU CR2 CTLA4 CXCR2 CYBB CYP1A1 DNASE1 DNMT1 ELN EP300 EPOR F2 FAS FCGR2A FCGR2B FCGR2C FCGR3A HLA-DQB1 HLA-DRB1 HSPA1A HSPA1L HSPD1 IFNG IKZF3 IL10 IL13 IL17A IL1RN IL21 IL21R IL23R IL2 IL5 INPP5D IRF5 JAK1 JUNB KLKB1 LBR LDLR LPA MAN2A1 MBL2 MKI67 MMP1 NOD2 P2RY12 PDCD1 PGF PLD4 PPARG PRDM1 PRF1 PTPRC RC3H1 RO60 SELL SFTPD SLC11A1 SNRNP70 SNRPC SNRPD1 SNRPD2 SOD2 STAT4 TAB2 TAB3 TAP1 TFPI THBD TIMD4 TLR5 TLR7 TLR9 TNF TNFRSF13B TNFRSF1A TNFRSF1B TRAF3IP2 VCAM1 VIM	100293534 10036 10758 11093 1191 122618 1232 1234 1380 149041 149233 1493 1536 1543 177 1773 1786 2006 2033 2057 2147 2212 2213 2214 22806 23118 23495 257397 3075 3119 3123 3303 3305 3329 335 3458 355 3557 3558 3567 3579 3586 3596 3605 3635 3663 3716 3726 3818 3930 3949 4018 4124 4153 4179 4261 4288 4312 50615 51284 5133 5228 54106 5468 5551 5788 59067 6347 639 6402 64127 6441 64805 6556 6625 6631 6632 6633 6648 6738 6775 6890 7035 7056 7100 712 7124 7132 7133 717 718 720 721 7412 7431 831 9103 91937 941 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:3393	coronary artery disease Aliases: CHD Coronary disease coronary arteriosclerosis coronary heart disease	ABCA1 ABCC6 ACAT2 ACE ADIPOQ ADRB3 AGER AGTR1 AHSG APOA1 APOA2 APOA5 APOB APOC3 APOE APOM ARHGAP31 BCHE BRINP3 BTNL2 C1orf167 CBS CCL2 CCR1 CCR2 CCR5 CD14 CD40LG CDH5 CHI3L1 CLCN6 CLU CPE CUBN CYP2R1 ECE1 EDN1 ENG EPHX2 ESR1 F2 F7 FCGR2A FCGR3A FGB FTO GCK GP6 GPX1 GPX3 HFE HGF HMGCR HNF1A HP HSD11B1 HSPD1 IL10 IL15 IL1RL1 IL6 IRS1 ITGA2 KALRN KL LDLR LEPR LIPC LIPG LOX LPA LPL LRP8 LTA LUM MAP3K7 MLXIPL MMP12 MMP1 MMP3 MMP9 MYLK NAMPT NGF NGFR NOD2 NOS2 NOS3 NPPA NR1H3 NR3C1 OGG1 OLR1 PAPPA PECAM1 PLA2G7 PNPLA3 PON1 PON2 PPARA PPARG PTPN1 PTPRD RBP4 SELE SERPINA1 SERPINE1 SERPINF2 SLC2A4 SOAT2 SOD1 SOD3 SPP1 SREBF1 SREBF2 TEK THBD TLL1 TLR4 TNF TNFRSF11B TNFRSF1A TNNI3 TP53 TTN VEGFA VIM VTN XRCC1	1003 10062 10135 1116 116519 1185 1191 120227 1230 1234 1363 155 1636 177 185 1889 19 1906 197 2022 2053 2099 2147 2155 2212 2214 2244 2645 284498 2876 2878 2908 3077 3082 3156 3240 3290 3329 335 336 338 339479 345 348 3569 3586 3600 3667 3673 368 39 3949 3953 3990 4015 4018 4023 4049 4060 4312 4314 4318 4321 4638 4803 4804 4843 4846 4878 4968 4973 4982 5054 5069 51085 51206 5175 5265 5345 5444 5445 5465 5468 55937 56244 57514 5770 5789 590 5950 6347 6401 64127 6517 6647 6649 6696 6720 6721 6885 6927 7010 7056 7092 7099 7124 7132 7137 7157 7273 729230 7422 7431 7448 7515 7804 79068 7941 8029 80339 8435 875 8997 9173 929 9365 9370 9388 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:6432	pulmonary hypertension	ACE2 ACVRL1 ADM AGER AGT AGTR1 AHR ALAS1 ALOX5 ANGPT1 ANGPT2 ATP5F1A BDKRB2 BMPR1A BMPR1B BMPR2 CASR CAVIN1 CCDC80 CCL2 CCL5 CCN2 CD209 CD28 CD40 CD40LG CD86 CDH5 CDKN1B CLU COL1A1 COL4A1 CSF3 CTNND1 CX3CL1 CXCR4 CYBB CYP1A1 CYP2J2 CYSLTR1 ECE1 EDN1 EDN2 EDNRA EDNRB EGFR EGR1 EPAS1 EPHX2 EPO ESR1 F5 FGFR1 GATA4 GPR182 HAS1 HAS2 HAS3 HDAC1 HDAC2 HDAC3 HDAC4 HIF1A HK1 HMGB1 HMGCR HP HYAL1 HYAL2 ICAM1 IFNGR1 IL10 IL13 IL13RA1 IL13RA2 IL1RN IL23R IL6 KCNK3 LCN2 MIF MMP1 MMP9 MTOR MYC NAMPT NFATC2 NOS2 NOS3 NOX1 NPPA NPPB PDE3A PDE5A PDGFA PDGFB PDIA3 PECAM1 PGF PTGIS PTGS2 PTK2 RAMP2 RELA RHOA RYR1 RYR2 RYR3 SERPINA1 SERPINE1 SLC1A5 SLC2A4 SLC6A4 SLC8A1 SMAD4 SMAD6 SMPD3 TACR1 TACR2 TEK TERT TGFB1 TGFBR1 TGFBR2 THBD THPO TNC TNF TP53BP1 TRPC3 TRPC6 TWIST1 VCAM1 VEGFB VIM VWF	1003 10135 10266 1027 10800 11318 1191 1277 1282 133 1440 1490 149233 1500 151887 1536 1543 1573 177 183 185 1889 1906 1907 1909 1910 1956 1958 196 2034 2053 2056 2099 211 2153 2260 240 2475 2626 27035 284 284119 285 2923 3036 3037 3038 3065 3066 30835 3091 3098 3146 3156 3240 3371 3373 3383 3459 3557 3569 3586 3596 3597 3598 3777 387 3934 4089 4091 4282 4312 4318 4609 4773 4843 4846 4878 4879 498 5054 5139 5154 5155 5175 5228 5265 55512 5740 5743 5747 59272 5970 624 6261 6262 6263 6347 6352 6376 6510 6517 6532 6546 657 658 659 6865 6869 7010 7015 7040 7046 7048 7056 7066 7124 7158 7222 7225 7291 7412 7423 7431 7450 7852 846 8654 8692 8841 94 940 942 958 959 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050535	exudative vitreoretinopathy Aliases: FEVR familial exudative vitreoretinopathy	CDH5 CTNNB1 FZD4 LRP5	1003 1499 4041 8322	Homo sapiens (human)	Alliance of Genome Resources
DOID:3963	thyroid gland carcinoma Aliases: head and neck cancer, Thyroid	ATP6V0C CD34 CD93 CDH5 EMCN FLT1 FLT4 KDR PTPRB ROBO4	1003 22918 2321 2324 3791 51705 527 54538 5787 947	Homo sapiens (human)	Alliance of Genome Resources
DOID:3070	high grade glioma Aliases: Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma	ABCB1 AKT2 ANGPT2 AREG ASPM ATRX BAD BARHL1 BCAN BDKRB2 BRCA2 BRD7 CAMK2A CAMKK2 CCN1 CD80 CHAF1A CHAF1B CNTN2 CSF1 CTSB CXCR3 CYP2E1 DCN DDR1 DLK1 E2F1 EFEMP1 EGF EGFR ENTPD2 EPO EPOR ERBB2 ERCC5 F2 FGFR1 FGFR2 FGFR3 FGFR4 FLT3LG HDAC3 HELLS HGF HMGB1 HRAS HSPA5 IDH1 IDH2 IFNG IGF1R IGFBP3 IL10 IL2 IL7 INSR INSRR KDM5B KDR KRAS LGALS3 LTA MAP2K1 MAPKBP1 MET MKI67 MMP2 MTOR NADSYN1 NF1 NOS3 NRAS PCMT1 PDGFA PDGFB PIK3CB PIK3CD PIK3R3 PLAU POLE PRKCA PTEN RAF1 RNF43 SERPINE1 SETDB1 SH3GL1 SIRT2 SLC44A1 SLC6A3 SLC7A5 SOX6 SPHK1 SPP1 ST6GAL1 TNC TNF TP53 WDR62 XRCC1	10036 10645 10765 1435 1508 1571 1634 1869 1950 1956 2056 2057 2064 2073 208 2147 2202 2260 2261 2263 2264 22933 23005 2323 23446 2475 259266 2833 284403 285 29117 3070 3082 3146 3265 3309 3371 3417 3418 3458 3480 3486 3491 3558 3574 3586 3643 3645 374 3791 3845 3958 4049 4233 4288 4313 4763 4846 4893 5054 5110 5154 5155 5243 5291 5293 5328 5426 546 54894 55191 55553 5578 5604 56751 572 5728 5894 624 63827 6455 6480 6531 6696 675 6900 7124 7157 7515 780 8140 815 8208 8503 8788 8841 8877 941 954 9869	Homo sapiens (human)	Alliance of Genome Resources
DOID:769	neuroblastoma	ALK ARID1A CD55 CHAF1A IGF1R KIF1B LLGL1 LLGL2 LTK NME1 NODAL NSD1 NTRK1 PECAM1 SCNN1A SNRPE	10036 1604 23095 238 3480 3993 3996 4058 4830 4838 4914 5175 6337 64324 6635 8289	Homo sapiens (human)	Alliance of Genome Resources

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