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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 **15676 - 15700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:820	myocarditis Aliases: Myocardial inflammation	ACE ADRB2 CCL2 CTLA4 CX3CL1 CXCR3 CYP11B1 HLA-DQB1 ICAM1 ICOS IL10 IL17A IL22 ITGB2 LCN2 MIF PPA1 PPA2 PTGER4 SPP1 STAT6 TNFRSF11A TNFRSF11B TNFSF11	1493 154 1584 1636 27068 2833 29851 3119 3383 3586 3605 3689 3934 4282 4982 50616 5464 5734 6347 6376 6696 6778 8600 8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:3021	acute kidney failure	ACE ADRB2 AGER ALOX5 AMBP ANXA1 AR AVPR1A AZGP1 B2M BAD BAX CAPN1 CDKN1B CLU CYP27B1 CYP2E1 ECE1 EGF EGFR EPAS1 EPO FAS FGA FN1 GFER GPX3 HAVCR1 HBEGF HDAC3 HES1 HIF1A HP HPR HSPA8 ICAM1 IGF1R IL1RN IL6 LCN2 LGALS3 MET MPO MTOR NDUFB8 NES NFE2L2 NOS1 NOS3 NPPA NPPB PKD2 PLAT PPARG PROC PROCR PTAFR PTGER4 PTGS2 RB1 REN SERPINC1 SIRT1 SLC22A1 SLC22A2 TGFA THBD TLR4 TNFRSF1A TNFRSF1B UTS2R WNT4	1027 10544 10763 1191 154 1571 1594 1636 177 1839 1889 1950 1956 2034 2056 2243 2335 23411 240 2475 259 2671 26762 2837 2878 301 3091 3240 3250 3280 3312 3383 3480 355 3557 3569 367 3934 3958 4233 4353 462 4714 4780 4842 4846 4878 4879 5311 5327 54361 5468 552 5624 563 567 572 5724 5734 5743 581 5925 5972 6580 6582 7039 7056 7099 7132 7133 823 8841	Homo sapiens (human)	Alliance of Genome Resources
DOID:7693	abdominal aortic aneurysm Aliases: AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1	ACE ADM AHCY APOE CCL2 CSF2 ELN EZH2 FASLG FOLH1 FTO HLA-DQA1 HLA-DRB1 IFNG IL10 ITGAM ITGAV KNG1 LOX MMP12 MMP13 MMP14 MMP1 MMP2 MMP3 MMP8 MMP9 MTHFD1 MTR MYH11 NOS2 NR1H3 P2RY12 PLA2G7 PON1 POSTN SELL SERPINE1 SLC19A1 SOD2 SORT1 TYMS	10062 10631 133 1437 1636 191 2006 2146 2346 3117 3123 3458 348 356 3586 3684 3685 3827 4015 4312 4313 4314 4317 4318 4321 4322 4323 4522 4548 4629 4843 5054 5444 6272 6347 6402 64805 6573 6648 7298 79068 7941	Homo sapiens (human)	Alliance of Genome Resources
DOID:2921	glomerulonephritis	ACE ADM AGT AGTR2 ALOX15 ANXA5 AXL BDKRB1 C1QA C3 C6 CCL1 CCL7 CD163 CD59 CFI CNDP1 COL4A3 CSF1 CX3CL1 EP300 F2 FBN1 FCGR2B FCGR3A FN1 FOS GAS6 GDNF IFNG IL1RN ITGA3 ITGB1 ITGB3 KLKB1 LTBP1 LTC4S MMP3 MPO MS4A1 NGF NPPA PDGFB PDGFD PLA2G7 PRF1 PTAFR SERPINE1 SPP1 TBXAS1 TF TNFRSF1A TNFRSF1B TPO VCAM1 VEGFA	1285 133 1435 1636 183 186 2033 2147 2200 2213 2214 2335 2353 246 2621 2668 308 3426 3458 3557 3675 3688 3690 3818 4052 4056 4314 4353 4803 4878 5054 5155 5551 558 5724 623 6346 6354 6376 6696 6916 7018 712 7132 7133 7173 718 729 7412 7422 7941 80310 84735 931 9332 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:1591	renovascular hypertension	ACE ADM ADRB1 AGTR1 AGTR2 AVPR1A CAMK2D CMA1 CXCR3 DYRK1A EIF4G2 FN1 G6PD HAVCR1 LAMA2 LCN2 MPO NOS1 PDGFA PRL PTGER3 PTGS1 RELA REN SLC9A1 SLC9A3 SPP1	1215 133 153 1636 185 1859 186 1982 2335 2539 26762 2833 3908 3934 4353 4842 5154 552 5617 5733 5742 5970 5972 6548 6550 6696 817	Homo sapiens (human)	Alliance of Genome Resources
DOID:7147	ankylosing spondylitis Aliases: Bekhterev syndrome Bekhterev's disease Marie-Strumpell disease	ACE ADIPOQ ANO6 ASPN CYP1A1 FCGR3A HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 IGFBP3 IL17A IL23R IL6 IRAK1 PGF PTGER4 TAP1 THBD TLR4 TLR5 TNFRSF1B	149233 1543 1636 196527 2214 3106 3117 3119 3123 3486 3569 3605 3654 5228 54829 5734 6890 7056 7099 7100 7133 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:576	proteinuria	ACE ADD3 AGER AGTR1 ALB B2M C6 CD55 CFH CLU COL4A5 F7 HAVCR1 HIF1A ICAM1 IFNB1 IL1RN IL6 LAMB2 LEPR MGAT5 MMP2 MYH9 NCKAP5 NPHS1 NPHS2 NPNT NPPB OPTN OSGEP PLA2G7 PON1 SDC1 SERPINA1 SLC9A1 SNRPD1 SORCS1 TGFB1 TLR9 TMEM67 TRPC6 VEGFA VTN	10133 114815 1191 120 1287 1604 1636 177 185 213 2155 255743 26762 3075 3091 3383 344148 3456 3557 3569 3913 3953 4249 4313 4627 4868 4879 5265 54106 5444 55644 567 6382 6548 6632 7040 7225 729 7422 7448 7827 7941 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:418	systemic scleroderma Aliases: Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis	ACE ADAMTS13 AGER AGT ANXA5 BDNF C3 CCL2 CCR6 CD86 CFB CHI3L1 CLU COL1A1 COL3A1 CP CSF1 CX3CL1 CXCL16 CXCR3 CXCR6 EDN1 ELN ESR1 F11R F2 FBN1 FLI1 FLT4 FOSL2 GPX3 HGF HLA-DQA1 HMGB1 ICAM1 IFNG IGFBP3 IL13 IL13RA1 IL17A IL1R1 IL23R IL27RA IL2 IL4 IL6 JAM3 KDR LTA MMP1 MMP3 MMP9 MUC1 NGF NOTCH4 PECAM1 PTGS2 RBP4 SELENOP SERPINE1 SERPINF2 SLC11A1 STAT4 TGFBR1 VEGFA VWF	10663 11093 1116 1191 1235 1277 1281 1356 1435 149233 1636 177 183 1906 2006 2099 2147 2200 2313 2324 2355 2833 2878 308 3082 3117 3146 3383 3458 3486 3554 3558 3565 3569 3596 3597 3605 3791 4049 4312 4314 4318 4582 4803 4855 5054 50848 5175 5345 5743 58191 5950 627 629 6347 6376 6414 6556 6775 7046 718 7422 7450 83700 942 9466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050855	renal fibrosis	ACE ADAM17 AGER CLU CYBB CYP2J2 ECE1 EDNRA ENG FCAR GFER GPR21 GPR52 IFNG KRAS LEPR MMP1 MMP9 PPARGC1A SERPINE1 STAT6 TLR2 TLR4	10891 1191 1536 1573 1636 177 1889 1909 2022 2204 2671 2844 3458 3845 3953 4312 4318 5054 6778 6868 7097 7099 9293	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:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	ACE ACTN1 ACTN2 ACTN4	1636 81 87 88	Homo sapiens (human)	Alliance of Genome Resources
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	ACE ACSM3 ADD1 ADD2 AGTR1 AGTR2 B4GALT1 C3 CCL2 CCR6 CD14 CFB CHGA CXCR2 FAS FCAR FCGR3A FN1 HAVCR1 HLA-DQB1 IGF1R IL1A IL1RN LCN2 MMP14 MTR MUC20 NGF PDE5A PLA2G7 SELE SELL SERPINB7 SHH SPRY2 STAT4 TLR1 TLR9 TNF TNFRSF1A TNFRSF1B TNFSF13B TNFSF14	10253 10673 1113 118 119 1235 1636 185 186 200958 2204 2214 2335 26762 2683 3119 3480 355 3552 3557 3579 3934 4323 4548 4803 54106 629 6296 6347 6401 6402 6469 6775 7096 7124 7132 7133 718 7941 8654 8710 8740 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:1324	lung cancer	ACE ACSL3 ALX4 ATR CA12 CALR CCDC116 CDKN1B CFTR CHD4 CHRNA3 CHRNA5 CHRNA7 CHRNB4 CLPTM1L COMT CSF1R CTNNB1 CYP1A1 CYP24A1 DAGLA DNMT1 DVL3 EGFR ERBB2 ERCC5 ERCC6 ESCO2 EZH2 FASLG FGF9 FOXA1 FOXM1 GPX1 GPX3 HP HPR HS3ST2 IDH2 IL1R2 IRS4 KRAS LRP1B MAP2K4 MAT2A MBD4 MBL2 MEF2D MKI67 MLH1 MMP1 MMP3 MPO MPZL3 MSH2 MYC MYD88 NCOA6 NFKB1 NOD2 PIK3CA POLE PRDM1 PTGS2 RAC1 RBM10 RECQL RICTOR RNASET2 ROBO1 SETDB1 SFTPB SLCO1B3 SOD2 SOX30 SOX9 SRSF6 STIM1 TERT TNC TPR TRIT1 TRPC4 TRPC7 TTR XPC XRCC1 XRN2	1027 1080 11063 1108 1136 1138 1139 1143 1312 1436 1499 1543 157570 1591 1636 164592 1786 1857 1956 196264 2064 2073 2074 2146 2181 2254 22803 2305 23054 253260 28234 2876 2878 3169 3240 3250 3371 3418 356 3845 4144 4153 4209 4288 4292 4312 4314 4353 4436 4609 4615 4790 5290 53353 5426 545 54802 57113 5743 5879 5965 60529 6091 639 64127 6416 6431 6439 6648 6662 6786 7015 7175 7223 7276 747 7508 7515 771 7850 81037 811 8241 8471 8635 8930 9869 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	ACE ACSL3 ADAM28 ADIPOQ ADM AGT AGTR1 AKR1A1 AKT1 ALOX12 AMH ANTXR1 ANXA7 APC APEX1 APOC3 APOE AREG ARID1A ATM ATR BAD BARD1 BAX BCAR1 BCAS2 BIRC2 BMP4 BMP6 BMP7 BRCA1 BRCA2 BTG2 CASP7 CASP9 CBS CCR5 CCR6 CD55 CDH13 CDH1 CDK13 CDK7 CDKN1B CFB CGA CHEK2 CHI3L1 CLU COMT CSF1 CSF1R CSNK2A1 CTCF CTLA4 CTSB CTSD CYB5R3 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP2C19 CYP3A4 DDR1 DLL4 EGFR EGR1 EIF3H ENG EPO EPOR ERBB2 ESR1 F10 F11R F5 F7 FANCD2 FAS FEN1 FGF8 FGFR2 FGFR3 FLT1 FOXA1 FUBP1 GHR GPX1 GRB2 HFE HGF HLA-DQA1 HLA-DRB1 HMMR ICAM1 IFNG IGF1R IGF2 IGFBP3 IGFBP6 IKBKB IL13RA2 IL6 INSR ITGA1 JUN KAT2B KAT6B KAT7 KAT8 KDM1A KDM3B KDM4C KDM5B KDM6A KDR KISS1R KLK3 KLK4 KMT2B KMT2D KMT2E KRAS L3MBTL1 LEP LHCGR LNPEP LTA MAP2K1 MAP2K2 MAP2K3 MAP3K1 MAPT MDM2 MET MGMT MKI67 MMP1 MMP3 MMP8 MRE11 MSH2 MSH6 MUC1 MYC MYD88 NBN NCOA3 NCOA6 NCOR2 NFKB1 NME1 NOD2 NOS3 NUF2 OGG1 PAK1 PDGFA PDGFRB PGF PHB1 PIK3CA PLAU PLCG1 PLPP4 PON1 PPM1D PRKAA1 PTEN PTGES3 PTGS1 PTPN13 RAC1 RAD50 RB1CC1 REL RELB RHOA RHOB RHOC RNASEL RNF20 RUNX3 SERPINE1 SETD5 SHMT1 SIX1 SKP2 SMARCA4 SNCG SNW1 SOD2 SOX2 SPINT1 SRSF5 STAT1 STAT3 SULT1E1 TET2 TFRC TGFB1 THRA TIMP1 TIMP3 TK1 TLR2 TLR4 TLR9 TNF TNFAIP3 TP53 TSC1 TSC2 TUT4 TWIST1 UBR5 UGT1A1 WIF1 WNT1 WNT2 WNT7B WNT9A XIAP XPO5 ZFHX3	10111 1012 1022 1027 10286 10327 10664 10728 10765 1081 10863 11143 1116 11197 11200 1191 1234 1235 1312 133 1435 1436 1457 1493 1508 1509 1543 1544 1545 1557 1576 1586 1588 1604 1636 1727 183 185 1956 1958 196051 2022 2056 2057 2064 207 2099 2153 2155 2159 2177 2181 2237 2253 2261 2263 22938 23028 23054 23081 2321 23318 23522 239 26013 268 2690 2876 2885 2956 3077 3082 310 3117 3123 3161 3169 324 328 329 331 3383 345 3458 348 3480 3481 3486 3489 354 355 3551 3569 3598 3643 3672 3725 374 3791 3845 387 388 389 3952 3973 4012 4049 4137 4193 4214 4233 4255 4288 4312 4314 4317 4361 4436 4582 4609 4615 463 4683 472 4790 4830 4846 4968 5054 5058 50848 51366 5154 5159 51780 5228 5245 5290 5328 5335 54106 5444 545 54567 54658 54790 55209 5562 55904 5604 5605 5606 56254 572 5728 5742 57510 5783 580 581 5879 5966 5971 6041 629 64127 6430 6470 6495 6502 652 654 655 6597 6623 6648 6657 6692 672 675 6772 6774 6783 7037 7040 7067 7076 7078 7083 7097 7099 7124 7128 7157 7248 7249 7291 7403 7471 7472 7477 7483 780 7832 8085 8202 8289 83540 840 84148 84168 842 84634 8493 8621 864 8667 875 8850 8880 9370 9564 9612 9622 9757 9821 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ACE ACHE ADIPOQ ADRB1 AGER ALDH2 AOC3 APOA1 APOA2 APOB APOC3 APOE APOM AVP BCHE BTC C3 CASP9 CBL CCL11 CCL2 CCL5 CCR2 CCR5 CD14 CD28 CD38 CD40 CD40LG CD80 CD86 CEL CFB CHI3L1 CLEC16A CP CTLA4 CYP27B1 CYP2E1 CYP2R1 DOCK8 E2F1 EDN1 EGFR EIF2AK3 F7 FADS2 FAS FASLG FUCA1 G6PC2 G6PD GAD2 GAL GC GH2 GHR GPX3 HDAC1 HDAC2 HDAC3 HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HNF1A HP HPR HSD11B2 ICAM1 IFNG IFNGR2 IGF2 IGF2R IGFBP3 IL10 IL15 IL1A IL1R1 IL1RN IL2 IL2RA IL4 IL6 INS IRAK3 ITPR3 LGALS3 LIPC LTA MBL2 NCAM1 NOS2 NOTCH4 PDX1 PLAT PON1 PRF1 PRRC2A PRSS1 PTPRN2 PTPRN REG1A SELE SELL SENP1 SERPINA7 SERPINF1 SLC11A1 SLC18A2 SOD1 SOD2 SREBF2 STAT4 TAP1 TBP TF TGFB1 THBD TIMP1 TLR2 TLR3 TLR4 TNF TNFSF4 UGT1A1 VAV1 VCAM1 VWF WFS1 XYLT1 YY1	1056 1116 11213 120227 1234 1356 1493 153 1571 1594 1636 177 1869 1906 1956 2155 217 23274 2517 2539 2572 2638 2689 2690 2878 29843 3065 3066 3113 3115 3117 3119 3123 3240 3250 3291 335 336 338 3383 345 3458 3460 348 3481 3482 3486 355 3552 3554 3557 3558 3559 356 3565 3569 3586 3600 3630 3651 3710 3958 3990 4049 4153 43 4684 4843 4855 51083 5176 5327 5444 54658 551 5551 55937 5644 57818 5798 5799 590 5967 629 6347 6352 6356 6401 6402 64131 6556 6571 6647 6648 6721 6775 685 6890 6906 6908 6927 7018 7040 7056 7076 7097 7098 7099 7124 718 7292 729230 7409 7412 7450 7466 7528 7916 81704 842 8639 867 8841 929 9370 940 941 9415 942 9451 952 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080946	retinal dystrophy with leukodystrophy Aliases: ACBD5 deficiency	ACBD5	91452	Homo sapiens (human)	Alliance of Genome Resources
DOID:906	peroxisomal disease Aliases: peroxisomal disorder	ACBD5	91452	Homo sapiens (human)	Alliance of Genome Resources
DOID:14723	beta-ketothiolase deficiency Aliases: 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency	ACAT1	38	Homo sapiens (human)	Alliance of Genome Resources
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	ACAT1 MPI OXCT1 TALDO1 TPI1	38 4351 5019 6888 7167	Homo sapiens (human)	Alliance of Genome Resources
DOID:162	cancer Aliases: malignant neoplasm malignant tumor primary cancer	ACAP1 ACAP2 AKT1 AKT2 AKT3 ALK ARID1A ATM BRCA2 BUB3 CAND1 CAND2 CBX2 CBX4 CBX8 CCNE2 CD53 CDIPT CDS1 CDS2 CMPK1 CSF1R CTNNB1 CUX1 DDX17 DDX5 DEPDC5 DHDDS DLG1 DLL1 DLL4 DST DUT EAF1 EPAS1 FEN1 FGR FLT1 FLT3 FLT4 GNPNAT1 HACD1 HACD2 HCK HRAS HSP90AA1 HSP90AB1 IDH1 IDI1 ING3 IPO5 ITGA3 ITGA6 ITGA7 ITGB1 ITGB2 ITGB3 ITGB5 ITGB6 ITGB7 JUP KANK1 KANK2 KANK4 KDR KIT KRAS LATS1 LATS2 LIG1 LLGL1 LLGL2 LRRK2 LTK MACF1 MAP2K1 MAP2K2 MSH2 MTOR MVK MYC NFYA NIPBL NOP2 NOTCH1 NOTCH2 NOTCH3 NOTCH4 NRAS NSDHL PGK1 PGK2 PGM3 PHC1 PHC2 PHC3 PIGZ PIK3CB PIK3CD PINX1 PIP4K2A PIP4K2B PIP4K2C PIP5K1A PIP5K1B PIP5K1C POLD2 POLE PPP1CA PPP1CB PPP1CC PSMA1 PSMC2 PSMC5 PTEN RAB5A RAB5C RAF1 RB1 RBBP6 RBL2 RET RFT1 RING1 RNF2 SCRIB SETD2 SHMT1 SHMT2 SIN3A SIN3B SMARCA2 SMARCA4 SMARCC1 SMARCC2 SOD2 SQLE SRC SSRP1 STK4 SUMO1 TAOK1 TAOK2 TBX2 TBX3 TERT THG1L TOP1 TOP1MT TOP2A TOP2B TP53 TPI1 TRIP12 TSPAN10 TSPAN14 TSPAN17 TSPAN5 TTI1 TXNL4A TYMS UGP2 VBP1 YAP1 YARS1	10000 10098 1040 10413 10423 10521 10907 116447 120892 1436 1499 1523 163782 1655 1739 1854 1911 1912 201562 2034 207 208 2237 2268 23066 23189 2321 2322 2324 23309 23396 23499 23513 23527 238 2475 25836 25942 25959 26262 26524 28514 29072 3055 3265 3320 3326 3417 3422 3655 3675 3679 3688 3689 3690 3693 3694 3695 3728 3791 3815 3843 3845 3978 3993 3996 4058 4436 4598 4609 472 4800 4839 4851 4853 4854 4855 4893 50814 51727 5230 5232 5238 5291 5293 5305 5425 5426 54556 54567 54974 54984 5499 5500 5501 55832 5604 5605 5682 5701 5705 5728 57332 57551 5868 5878 5894 5925 5930 5934 5979 6015 6045 6470 6472 64841 6595 6597 6599 6601 6648 667 6713 6714 6749 675 6789 6909 6926 7015 7150 7153 7155 7157 7167 7298 7341 7360 7411 79837 79947 80012 80235 81619 8289 83882 8394 8395 8396 84733 8535 85403 8565 8760 9113 9134 9184 91869 9200 9320 9344 963 9675 9681 9744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112282	spondyloepiphyseal dysplasia Kimberley type Aliases: SEDK	ACAN	176	Homo sapiens (human)	Alliance of Genome Resources
DOID:4480	achondroplasia Aliases: Achondroplastic physique Chondrodystrophia osteosclerosis congenita	ACAN FGFR3 NPPC NPR2 PTHLH	176 2261 4880 4882 5744	Homo sapiens (human)	Alliance of Genome Resources
DOID:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	ACAN ADAMTS4 ADAMTS5 ASPN COL10A1 COL1A1 COL2A1 CRK FOS GSK3B MMP13 MMP1 MMP3 NGF NGFR PAPPA POSTN TIMP1	10631 11096 1277 1280 1300 1398 176 2353 2932 4312 4314 4322 4803 4804 5069 54829 7076 9507	Homo sapiens (human)	Alliance of Genome Resources
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	ACAN ADAMTS4 ADAMTS5 ADIPOQ ADRB3 AGER APOA4 AZGP1 BTNL2 C3 C4B CASP7 CAST CCL2 CCN1 CCR1 CCR3 CCR4 CCR5 CD244 CD28 CD40 CD80 CEBPB CHI3L1 CHRFAM7A CHRNA7 CIITA CLEC16A CX3CL1 CXCR3 DNASE2 DNMT1 EDN1 ELN EPAS1 ESCO2 FAS FCGR1A FCGR2A FCGR3A FOXO3 GC HFE HGF HIF1A HLA-DQA1 HLA-DQB1 HLA-DRB1 HNRNPA2B1 HSP90AA1 HSPA4 HSPA5 HSPA9 HSPB1 HSPD1 IFNG IGF2 IL10 IL13 IL17A IL1A IL1RN IL20 IL23R IL2 IL3 IL4R IL5 IL6ST IRF5 KAT2B KMT2C LPA LRRK2 MBD4 MMP14 MMP1 MMP3 MMP8 MMP9 NOTCH4 NPSR1 NR3C1 OPRM1 PDGFB PGF PLA2G7 PLAUR PTGS2 SEMA3C SLC11A1 SLC22A4 SPP1 STAT3 TAB2 TAB3 THBD TNF TNFRSF1A TREM1 TYMS VEGFA VIM ZAP70	1051 10512 11096 1116 1139 120892 1230 1232 1233 1234 149233 155 157570 176 177 1777 1786 1906 2006 2034 2209 2212 2214 2309 23118 23274 257397 2638 2833 2908 3077 3082 3091 3117 3119 3123 3181 3308 3309 3313 3315 3320 3329 337 3458 3481 3491 355 3552 3557 3558 3562 3566 3567 3572 3586 3596 3605 3663 387129 4018 4261 4312 4314 4317 4318 4323 4855 4988 50604 5155 51744 5228 5329 54210 56244 563 5743 58508 6347 6376 6556 6583 6696 6774 7056 7124 7132 718 721 7298 7422 7431 7535 7941 831 840 8850 8930 89832 9370 940 941 9507 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	ACAN ADAM12 ADAMTS14 ADAMTS5 AGER ASPN ATP7A BAD BAG6 BAX BMP2 BMP7 BMPR1A CASP9 CCR4 CD36 CILP CLEC3B COL11A1 COL1A1 COL2A1 COL9A1 DDR2 EFEMP2 EGR1 ENPP1 EPAS1 ERRFI1 ESR1 FCGR2A FGFR1 FLT1 FN1 FRZB GDF5 GHR HBP1 HFE HIF1A IGF1R IGF2 IGFBP3 IHH IL1A IL4R IL5 INS JAG1 LEP MATN3 MMP13 MMP1 MMP2 MMP3 MMP8 MMP9 NCOR2 NFATC1 NGF PECAM1 POMC PTGS2 SERPINA1 TGFBR1 TNFRSF10A TNFRSF10B TNFRSF10C TNFRSF10D TNFRSF11B	11096 1233 1277 1280 1297 1301 140766 176 177 182 1958 2034 2099 2212 2260 2321 2335 2487 2690 26959 30008 3077 3091 3480 3481 3486 3549 3552 3566 3567 3630 3952 4148 4312 4313 4314 4317 4318 4322 4772 4803 4921 4982 5167 5175 5265 538 54206 5443 54829 572 5743 581 650 655 657 7046 7123 7917 8038 8200 842 8483 8793 8794 8795 8797 948 9612	Homo sapiens (human)	Alliance of Genome Resources

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