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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 **101 - 125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0080451	developmental and epileptic encephalopathy 29 Aliases: DEE29 early infantile epileptic encephalopathy 29	AARS1	16	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110177	Charcot-Marie-Tooth disease axonal type 2N Aliases: CMT2N Charcot-Marie-Tooth neuropathy axonal type 2N autosomal dominant Charcot-Marie-Tooth disease type 2N autosomal dominant axonal Charcot-Marie-Tooth disease type 2N	AARS1	16	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070396	progressive leukoencephalopathy with ovarian failure	AARS2	57505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111479	combined oxidative phosphorylation deficiency 8 Aliases: COXPD8	AARS2	57505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060404	chromosome 17q12 deletion syndrome Aliases: 17q12 microdeletion syndrome	AATF ACACA ACACB DUSP14	11072 26574 31 32	Homo sapiens (human)	Alliance of Genome Resources
DOID:1824	status epilepticus Aliases: Grand mal status	ABAT ABCB1 ABCC2 ABCC8 ABCG2 ACAN ADAM10 ADAM9 ANK3 APEX1 APOD AQP1 AQP4 ATM BAX BDNF CASP6 CCL2 CCR5 CFL1 CKMT1A CKMT1B CNR1 CX3CL1 CYP11A1 DAB1 DMD DPYSL2 GABRB3 GHSR GRIA1 GRIA2 GRIK1 GRIN1 GRIN2A GRN GSK3B H2AX HCN1 HRH3 HSD11B1 HSPA1A IDH2 IL6ST KCNC4 KCNJ11 KCNK3 MEF2C MMP9 MTOR NLGN1 NLGN2 NR3C1 NT5E NTF3 OGG1 OLIG2 PGF PLAT PLAU PLAUR PTGS2 PTPRZ1 RELA RELN SLC6A8 SLC8A1 SLC8A2 SLC8A3 SOCS3 SOD2 SRC SSTR4 TFAM TNF XRN2	102 10215 1072 11255 1159 1234 1244 1268 1583 1600 1756 176 18 1808 22803 22871 2475 2562 2693 288 2890 2891 2896 2897 2902 2903 2908 2932 3014 328 3290 3303 3418 347 348980 3572 358 361 3749 3767 3777 4208 4318 472 4907 4908 4968 5228 5243 5327 5328 5329 548596 5649 5743 57555 5803 581 5970 627 6347 6376 6535 6543 6546 6547 6648 6714 6754 6833 7019 7124 839 8754 9021 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:11832	visual epilepsy Aliases: epilepsy, visual	ABAT ABCB1 ABCC2 ABCC8 ADAMTS1 APEX1 APP ASPM BAD BAG3 BRD1 C7 CDKL5 CHRNA3 CIT CNTNAP2 CSTB DKK1 DRD3 EGR1 ENO2 EPO ERBB4 FAS FCGR2A FCGR3A FGFR1 GABBR1 GAP43 GLUD1 GLUD2 GLUL GRIA1 GRIK5 GRM8 HCN1 HCN2 HDAC2 HRH3 HSPA1A HSPA5 IFNG IL6R IL6ST KCNA1 KCNJ11 KDM3B L2HGDH MAP1B MARCKS MBD3 MECP2 MSH2 NFE2L2 NGFR NPY1R NPY5R NR3C1 NRG1 PAFAH1B1 PAWR PCSK1 PDGFB PLD1 PLD2 PLP1 PRICKLE1 PTGS2 PTPRZ1 REG3G RRM1 RTN4 SCN2B SLC12A2 SLC38A1 SLC38A2 SLC38A3 SLC6A11 SMO SPP1 SREBF2 SYT1 SYT4 TACR3 TNF TNFRSF1A TNFRSF1B TUBA1A VDAC1 VDAC2 VTN WFS1 WNT2 XRCC1 YWHAZ	10991 11113 11255 1136 1244 130120 144165 1476 18 1814 1958 2026 2056 2066 2212 2214 2260 22943 23774 2550 259266 2596 26047 2746 2747 2752 2890 2901 2908 2918 3066 3084 328 3303 3309 3458 348980 351 355 3570 3572 3736 3767 4082 4131 4204 4436 4780 4804 4886 4889 5048 5074 5122 5155 51780 5243 5337 5338 5354 53615 54407 57142 572 5743 5803 610 6240 6327 6538 6558 6608 6696 6721 6792 6833 6857 6860 6870 7124 7132 7133 730 7416 7417 7448 7466 7472 7515 7534 7846 79944 81539 9510 9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:9976	heroin dependence	ABAT ABCB1 ACHE ADRA1A ALDH2 BCHE BDNF CHRM2 COMT CREB1 CYP2B6 CYP2C19 DRD1 DRD2 DRD3 DRD4 FAS FOSB GABBR1 GABRB3 GABRG2 GAD1 GAD2 GDNF GRIA1 GRIN2A GRM2 HTR3A NGF NPY1R OPRD1 OPRK1 OPRM1 POMC SLC6A3	1129 1312 1385 148 1555 1557 18 1812 1813 1814 1815 217 2354 2550 2562 2566 2571 2572 2668 2890 2903 2912 3359 355 43 4803 4886 4985 4986 4988 5243 5443 590 627 6531	Homo sapiens (human)	Alliance of Genome Resources
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: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:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	ABAT ACHE AGTR1 APOA4 ATF2 BAX BCHE BDNF CASP9 CAT CNR2 CREB1 CREBBP CTSH DNAJB2 DRD1 E2F1 EIF2AK2 ELK1 F2 FAS FASLG FKBP11 FOXP1 GIT1 GLUL GPX1 GPX6 GRIK2 GRIN2A GRIN2B HSF1 HTT IL6 IL6R ITPR1 LCP1 LEP MAP2 MBP MMP9 MTNR1A NCOR1 ND3 NFE2L2 NGFR NOG NOS3 NPY2R NRF1 OPTN PACSIN2 PARP1 PLS1 PLS3 PPARD PPARGC1A PPP1R9A PRKAA1 PTGS2 QPRT RRS1 SETDB1 SIN3A SIRT1 SLC18A3 SLC1A2 SRSF6 SYNE3 TBP TFAM TRIP10 UCP2 WIPI1 WIPI2 YBX2 ZDHHC13	10133 10891 11252 1269 1385 1386 1387 142 1512 161176 18 1812 185 1869 2002 2147 23212 23411 23475 257202 25942 26100 27086 2752 2876 28964 2898 2903 2904 3064 3297 3300 337 355 356 3569 3570 3708 3936 3952 4133 4155 43 4318 4537 4543 4780 4804 4846 4887 4899 51087 51303 5357 5358 54503 5467 55062 55607 5562 5610 5743 581 590 627 6431 6506 6572 6908 7019 7351 842 847 9241 9322 9611 9869	Homo sapiens (human)	Alliance of Genome Resources
DOID:326	ischemia	ABAT ADNP AKT2 ANGPT2 ANXA1 CALCA CCL2 CRHR2 CX3CL1 DLL4 HTR1B ITGAV LIPC LONP1 MMP14 MUC13 MUC2 PRKCA PTGES PTK2 SCNN1A SCNN1B SCNN1D SCNN1G SF1 THBD TNFRSF1A TP53	1395 18 208 23394 285 301 3351 3685 3990 4323 4583 54567 5578 56667 5747 6337 6338 6339 6340 6347 6376 7056 7132 7157 7536 796 9361 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:1596	depressive disorder Aliases: mental depression	ABAT ADRA2A AVPR1B BAX BDNF CAT CDK5 CHAT CHRM2 CHRNA3 CHRNB3 CHRNB4 CREB1 CRHBP CRHR1 CRHR2 CYP1A2 CYP2B6 CYP2C18 CYP2D7 CYP2E1 CYP3A5 DBH DRD1 DRD2 DRD5 FADD FOS FOSB GABRA5 GATA2 GDNF GPM6A GPM6B GPX1 GPX3 GSK3B HTR1A HTR2A HTR3B IL1RN IL6 IL6R JUN KMO L1CAM LINC02210-CRHR1 NCAM1 NEFL NGF NGFR NOS1 NPPC NPY1R NPY2R NR3C1 NTRK2 OPRK1 PANX1 PAWR PLA2G2A PLP1 PRL REN SLC5A7 SLC6A2 SLC6A4 SNCA SNCG TPH1 TREM1 XIRP2	1020 104909134 1103 1129 1136 1142 1143 129446 1385 1393 1394 1395 150 1544 1555 1562 1564 1571 1577 1621 18 1812 1813 1816 2353 2354 24145 2558 2624 2668 2823 2824 2876 2878 2908 2932 3350 3356 3557 3569 3570 3725 3897 4684 4747 4803 4804 4842 4880 4886 4887 4915 4986 5074 5320 5354 54210 553 5617 581 5972 60482 627 6530 6532 6622 6623 7166 847 8564 8772 9177	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050562	West syndrome	ABAT CFL1 MC2R STXBP1	1072 18 4158 6812	Homo sapiens (human)	Alliance of Genome Resources
DOID:2548	reflex epilepsy Aliases: epilepsy, sensory-induced	ABAT TRPV1	18 7442	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060174	GABA aminotransferase deficiency Aliases: Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency	ABAT	18	Homo sapiens (human)	Alliance of Genome Resources
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	ABCA1 ABCB1 ABCC2 ABCC3 ABCG1 ACAT1 ACE ADIPOQ ADRB2 AGER AGTR2 ALB APOA1 APOC2 APOC3 APOE BDKRB1 C6 CASR CAT CCL2 CCL5 CCR5 CD2AP CD40 CD40LG CFB CHGA COL1A1 COL3A1 COL4A3 COL4A4 CPT1A CSF1 CTLA4 CXCR1 CXCR2 CYBB CYP1A1 CYP2C18 CYP2C8 CYP3A5 DRD1 DRD2 EDN1 ENPP1 EPOR F2 F5 FCGR2B FGB FN1 GHRL GLO1 GTPBP4 HMGCR ICAM1 IL1A IL1RN IL20 IRS1 ITGA8 ITGB3 KEAP1 KL KLK1 LCAT LCN2 LEP LIPC LPIN1 LPL LRP2 MBL2 MLXIPL MMP1 MMP2 MMP3 MPO MTOR MYH9 NGF NOS1 NOS3 NPHS1 NPPB NPPC NR3C1 OLR1 PGF PLA2G7 PLAU PLAUR POSTN PPARG PTGER4 RELA SCAF1 SCAP SCARB1 SELL SERPINE1 SLC22A2 SLC34A1 SLC9A5 SOAT2 SREBF2 TGFB1 THBD TLR2 TLR4 TNF TNFRSF11B TNFRSF1A TNFRSF1B UCP2 VWF	10631 1113 1234 1244 1277 1281 1285 1286 1374 1435 1493 1536 154 1543 1558 1562 1577 1636 177 1812 1813 186 19 1906 2057 213 2147 2153 2213 2244 22937 23175 2335 23560 23607 2475 2739 2908 3156 335 3383 344 345 348 3552 3557 3577 3579 3667 3690 38 3816 3931 3934 3952 3990 4023 4036 4153 4312 4313 4314 4353 4627 4803 4842 4846 4868 4879 4880 4973 4982 5054 50604 51085 5167 51738 5228 5243 5328 5329 5468 5734 58506 5970 623 629 6347 6352 6402 6553 6569 6582 6721 7040 7056 7097 7099 7124 7132 7133 729 7351 7450 7941 8435 846 847 8516 8714 9365 9370 949 958 959 9619 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:9352	type 2 diabetes mellitus Aliases: NIDDM insulin resistance non-insulin-dependent diabetes mellitus type 2 diabetes type II diabetes mellitus	ABCA1 ABCB1 ABCC2 ABCC8 ABCG2 ACE ACOT2 ADAM17 ADAMTS20 ADAMTS4 ADAMTS8 ADAMTS9 ADCY5 ADIPOQ ADM ADRA2A ADRB2 ADRB3 AFF2 AFF3 AFF4 AGER AGT AGTR2 AHSG AKR1B1 AKT1 AKT2 AKT3 ALDH2 ALDOB ALMS1 ALOX12 ANGPT2 AOC3 APOA1 APOA2 APOA5 APOB APOC2 APOD APOE APOH APOM AR ARNT ARX ASIP ATP5F1B AVP AXL B2M BAD BAX BCHE BCL11A BCL11B BDNF BTC CACNA1D CADM2 CALCA CAPN10 CASP7 CASP9 CASQ1 CAT CCKAR CCL2 CCL5 CCN2 CCR2 CCR5 CD36 CD38 CD40LG CDK7 CDKAL1 CEL CHI3L1 CNR1 COL3A1 CP CPB2 CPE CPT1A CRHR1 CRTC2 CTSB CTSL CYB5R4 CYP11A1 CYP11B2 CYP1A1 CYP2C19 CYP2C8 CYP2C9 CYP2E1 DAG1 DCN DEFB1 DNM1L DNMT1 DPP4 DRD2 EDN1 EDNRA EDNRB EIF3F ENPP1 EPAS1 EPO ESR1 F12 F2 F3 F7 F8 F9 FASLG FBN1 FFAR1 FGA FGB FGG FOXM1 FRZB FTO FUCA1 G6PC1 G6PD GAL GCGR GCK GFPT1 GFPT2 GGT1 GH2 GHR GHRL GIPR GLO1 GP6 GPD2 GPX3 GSK3B HFE HIF1A HK2 HLA-DQA1 HMGCR HNF1A HP HPR HSD11B1 HSD11B2 HSD17B3 HSD3B1 HSPA1B HSPA4 HTR2C ICAM1 IFNG IGF1R IGF2 IGF2R IGFBP3 IKBKB IL10 IL1RN IL6 INPPL1 INS INSR INSRR IRS1 IRS2 IRS4 ITGA2 ITGAM KCNJ11 KCNMB1 KCNN4 KCNQ1 KDR KL LCN2 LEP LEPR LINC02210-CRHR1 LIPC LMNA LNPEP LPL LTA MADD MAFA MAPK8IP1 MAPK9 MIF MKI67 MLXIPL MMP1 MMP2 MMP3 MMP9 MT2A MTNR1A MTNR1B MTOR MTR NAMPT NCOA6 NFE2L1 NFE2L2 NOG NOS1 NOS2 NOS3 NPPB NR1D1 NR1H3 NR2F2 NR3C1 NUCB2 OGA OGG1 OGT OXCT1 P2RY12 PAPPA PARP1 PCK1 PCSK1 PCSK2 PDX1 PIK3C2A PIK3C2G PIK3CB PIK3CD PKLR PLA2G7 PLAT PLAUR PNPLA3 POMC PON1 PON2 PPARD PPARG PPARGC1A PPARGC1B PPP1CA PPP1CC PPP1R3A PPP1R3C PRKAA1 PRKAA2 PTGDS PTGIS PTGS2 PTPN1 PTPRD RARRES2 RBP4 REG3G RHEB RPS6KB1 RRAD SCN1B SDC2 SDF2L1 SDHB SELL SELP SERPINA12 SERPINC1 SERPINE1 SERPINF1 SGCG SHBG SIRT1 SIRT3 SLC2A1 SLC2A2 SLC2A3 SLC2A4 SLC9A1 SMAD4 SMC1A SNAP25 SOCS3 SOD1 SOD2 SOD3 SORBS1 SPHK1 SRC SRD5A1 SREBF1 SREBF2 STAT3 TGFB1 TGFBR2 THBD TIMP1 TIMP3 TLR4 TNF TNFRSF11B TNFRSF1A TRPC6 UCP2 UCP3 UGT1A10 UGT1A1 UGT1A6 UGT1A7 UGT1A8 UGT1A9 VCAM1 VEGFA VPS26A WFS1 XRCC1	10000 10059 10062 10135 1022 104909134 1056 10580 10724 10891 10965 11095 111 11132 1116 116519 1234 1244 1268 1281 130120 133 133522 1356 1361 1363 1374 1394 142 145264 1490 150 1508 1514 154 1543 155 1557 1558 1559 1571 1583 1585 1605 1634 1636 1672 170302 177 1786 1803 1813 183 186 19 1906 1909 1910 197 200186 2034 2056 207 208 2099 2147 2152 2155 2157 2158 2161 217 2200 2243 2244 2266 229 2305 23054 231 2334 23410 23411 23753 239 2475 2487 2517 253559 2538 2539 2642 2645 2673 2678 2689 2690 2696 27125 2739 2820 285 2864 2878 2908 2932 3077 3091 3099 3117 3156 3240 3250 3283 3290 3291 3293 3304 3308 335 3358 336 338 3383 344 3458 347 348 3480 3481 3482 3486 350 3551 3557 356 3569 3586 3630 3636 3643 3645 3651 3667 367 3673 3684 3767 3779 3783 3784 3791 389692 3899 3934 3952 3953 3990 4000 4012 4023 4049 405 4089 4282 4288 4312 4313 4314 4318 434 4502 4543 4544 4548 462 4779 4780 4842 4843 4846 4879 4925 4968 4982 5019 5054 506 5069 5105 51083 51085 51167 51206 5122 5126 5167 51738 5176 5243 5286 5288 5291 5293 5313 5327 5329 53335 5443 5444 5445 54575 54576 54577 54578 54600 54658 5467 5468 54901 5499 5501 5506 5507 551 5562 5563 558 55937 5601 567 56999 572 5730 5740 5743 5770 5789 581 590 5919 5950 6009 6198 6236 627 6324 6347 6352 6383 6390 6402 6403 6445 6462 64805 64919 6513 6514 6515 6517 6548 6616 6647 6648 6649 6714 6715 6720 6721 6774 6833 685 6868 6927 7026 7040 7048 7056 7076 7078 7099 7124 7132 7225 729230 7351 7352 7412 7422 7466 7515 776 7840 79068 7941 796 80070 80339 8243 840 842 844 847 8471 8473 8567 8639 8660 8665 886 8877 9021 9241 9365 9370 9429 9479 948 9507 952 9559 9572 959 9945	Homo sapiens (human)	Alliance of Genome Resources
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	ABCA1 ABCB1 ABCG8 ADIPOQ ALB APOB APOC2 APOE BCHE CCL2 CD40LG CYP2E1 F3 F7 GFPT1 HSD11B1 HSPA1B ITGAM KL LCAT LDLR LEP LIPC LPL MMP9 NOS3 RGN SDC1 SERPINC1 SERPINF2 SHC1 SMARCD1 TFPI TGFB1 VCAM1	1571 19 213 2152 2155 2673 3290 3304 338 344 348 3684 3931 3949 3952 3990 4023 4318 462 4846 5243 5345 590 6347 6382 64241 6464 6602 7035 7040 7412 9104 9365 9370 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:12236	primary biliary cholangitis Aliases: biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis	ABCA1 ABCB4 ABCC2 ACE2 ACE AGT AQP4 CCL5 CCN2 CD14 CD68 COL1A1 CPEB1 CPEB4 CTLA4 DAG1 DNASE1 ENTPD2 FAS HHIP HLA-DQA1 IFNG IL10 IL12A IL12RB1 IL4 IL6 KRT18 LBR LEP LEPR MAS1 MMP13 MMP2 MMP3 MMP9 MUC2 NOS2 NOS3 NR3C1 NUP62 PDE5A PPARGC1A RELA REN RPS6KB1 SLCO1A2 SLCO1C1 SOD2 STAT4 TLR9 TNF UTP4 VEGFA	10891 1244 1277 1490 1493 1605 1636 1773 183 19 23636 2908 3117 3458 355 3565 3569 3586 3592 3594 361 3875 3930 3952 3953 4142 4313 4314 4318 4322 4583 4843 4846 5244 53919 54106 59272 5970 5972 6198 6352 64399 64506 6579 6648 6775 7124 7422 80315 84916 8654 929 954 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	ABCA1 ABCC2 ABCC3 ACACA ACACB ACOX1 ADIPOQ ADRB2 AHCY ALPL APOA1 APOB APOE CAT CCL5 CD163 CDIPT CPE CPS1 CTSB CYP2E1 DGAT2 FGFR1 G6PC1 GCK GGT1 GPX1 HADHA HADHB HFE HSPA5 HTR2A HTR2B IL10 IL13RA2 IL6 INS INSR LDLR LEP LGALS3 LRP6 MC4R NFKB1 NOX4 NR3C2 OPA1 PLAU PNPLA3 PPARA PPARG PPARGC1A PTEN PTGS2 RELA SEC63 SHC1 SIRT1 SLCO1A2 UCP2	10423 10891 11231 1244 1363 1373 1508 154 1571 19 191 2260 23411 249 2538 2645 2678 2876 3030 3032 3077 31 32 3309 335 3356 3357 338 348 3569 3586 3598 3630 3643 3949 3952 3958 4040 4160 4306 4790 4976 50507 51 5328 5465 5468 5728 5743 5970 6352 6464 6579 7351 80339 84649 847 8714 9332 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:13619	extrahepatic cholestasis Aliases: extrahepatic biliary Stasis extrahepatic obstructive biliary disease	ABCA1 ABCC4 CYP27A1 CYP7A1 CYP8B1 HMGCS2 HNF1A LGALS1 NFE2L2 OPRM1 PDGFRB SETD7 SLC22A1 SLC22A2	10257 1581 1582 1593 19 3158 3956 4780 4988 5159 6580 6582 6927 80854	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:1387	hypolipoproteinemia Aliases: Hypolipoproteinaemia	ABCA1 APOA1	19 335	Homo sapiens (human)	Alliance of Genome Resources
DOID:10230	aortic atherosclerosis Aliases: Atherosclerosis of aorta	ABCA1 APOE CAPN1 EDN1 LDLR	19 1906 348 3949 823	Homo sapiens (human)	Alliance of Genome Resources

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