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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 **1 - 25** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	ADGRE1 ADGRE5 ADGRL1 ADGRL2 ADGRL3 ADGRL4 ADRA2A AR BAIAP2 BDNF BRINP1 CALY CDH2 CHRNB2 COMT DBH DOCK3 DRD4 DRD5 FOXP2 GIT1 GRIN2B GRM8 HMGCR HTR1B LGALS3 MEF2A MEF2C MEF2D MMP9 NF1 NTRK2 PER1 PTCHD1 SLC6A2 SLC6A3 SLC6A4 SNAP25 TACR1 TPH1 UST VEGFA VPS4A	1000 10090 10458 1141 1312 139411 150 1620 1621 1795 1815 1816 2015 22859 23266 23284 27183 28964 2904 2918 3156 3351 367 3958 4205 4208 4209 4318 4763 4915 50632 5187 627 64123 6530 6531 6532 6616 6869 7166 7422 93986 976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	ACTN2 CDH2 DES DSC1 DSC2 DSC3 DSG2 DSP IL6R JUP LMNA PKP2 PPP1R13L RYR2 SCN5A TGFB3 TMEM43	1000 10848 1674 1823 1824 1825 1829 1832 3570 3728 4000 5318 6262 6331 7043 79188 88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080959	arrhythmogenic right ventricular dysplasia 14	CDH2	1000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080948	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	CDH2	1000	Homo sapiens (human)	Alliance of Genome Resources
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	A2M AAK1 ABL1 ACHE ACO2 ADCY5 ADH7 AFDN AGTR1 AKT1 AKT2 AKT3 ANXA5 APOA1 APOE ATG9A ATG9B ATM ATP13A2 ATP13A3 ATP13A5 B2M BDNF BMP2K CALR3 CALR CASP9 CAST CCK CCN2 CHRNB3 CREB1 CYP1A1 DBH DBN1 DLG1 DNAJC13 DNM1L DRD1 DRD2 DRD3 DRD5 EGF EGFR EIF2AK2 EIF4G1 EIF4G2 EIF4G3 EPHX2 EPO ERBB2 FAS FASLG FBXO7 FDXR FOXO1 FOXO3 FOXO4 GAK GBA1 GDF5 GDNF GIGYF2 GJC2 GLRX GPI GPR37 GRK3 GRN GSK3B GSTO1 GSTO2 HBB HCN3 HDAC6 HIPK1 HIPK2 HIPK3 HLA-DRA HLA-DRB1 HMGCR HSF1 HSPA4 HSPA8 HSPA9 HSPD1 HTR1A HTT IGF1R IGF2 INSR INSRR KLK6 LEP LRRK1 LRRK2 MAP2K3 MAP2K6 MAPK14 MAPK9 MAPT MINAR2 MXI1 ND3 NDUFB8 NEFL NGFR NOS1 NOX1 NPBWR1 NPBWR2 NR4A1 NTSR1 NUS1 OGG1 OPRD1 OPRK1 OPRL1 OPRM1 OPTN PAK4 PAK5 PARK7 PARP1 PGK1 PGK2 PHACTR2 PINK1 PISD PLA2G6 PPARGC1A PPARGC1B PPP1R9B PPRC1 PRKAA1 PRKAA2 PRLHR PTCH1 PTCH2 PTGIS PTPRN2 PTPRN RTCB SDHA SEC22B SERPINF1 SIRT1 SLC11A2 SLC17A6 SLC17A8 SLC18A2 SLC40A1 SNCA SNCB SNCG SOD1 SOD2 SPCS2 SRRM2 SSTR1 SSTR2 SSTR3 SSTR4 SSTR5 SYNJ1 SYNJ2 TARDBP TFAM TOR1A TOR1B TOR2A TOR3A TPPP3 TPPP TSPAN3 TSPAN7 VDAC1 VPS13A VPS13C YIF1B	10000 100127206 10013 10059 10099 10114 10133 10298 10891 11076 111 11315 1142 116150 119391 120892 125972 131 133522 1385 142 1432 1490 1543 157 1621 1627 1739 1812 1813 1814 1816 185 1861 1950 1956 1981 1982 2 204851 2053 2056 2064 207 208 2232 22848 2308 23082 2309 23230 23317 23400 23411 23435 23524 23761 246213 25 25793 2580 26058 2629 2668 27035 27348 27433 2745 2821 2831 2832 2834 285973 2861 2896 28996 2932 30061 3043 3064 308 3122 3123 3156 3164 3297 3308 3312 3313 3329 335 3350 344905 348 3480 3481 355 356 3643 3645 3952 4137 43 4301 4303 4537 4601 4714 472 4747 4804 4842 4891 4923 4968 4985 4986 4987 4988 50 51493 51673 5176 5230 5232 54832 55589 5562 5563 5601 5606 5608 5610 5653 567 57084 57144 57165 5727 5740 57657 5798 5799 627 6389 64222 65018 6571 6620 6622 6623 6647 6648 6751 6752 6753 6754 6755 7019 7102 7416 79065 79572 79705 811 8200 831 8398 842 84687 8643 8672 885 8867 8871 90522 9446 9554 9749 9789	Homo sapiens (human)	Alliance of Genome Resources
DOID:219	colon cancer	ACTR1A ACVR2A AKT1 AKT3 APC ARID1A ATR AZGP1 BAD BRCA1 BRD4 CALR CASP7 CBS CCL2 CHAF1A CHKA CHUK COL6A3 CRIPTO CYP24A1 CYP2E1 EZH2 FGFR4 GPX1 GSK3B HS3ST2 HSP90AA1 IKBKB IL10 IL7R JUNB KDM3A LCN2 LGALS3 LIF LRP1B MAP2K3 MAPK14 MKI67 MLH1 MMP3 MRE11 MSH2 MTOR MUC2 NCOA6 NF1 PLCG1 PPARG PRKAA1 PTEN PTGER3 PTPN13 REG1A REG1B RICTOR RNF43 RPS6KB1 SLC7A5 SLCO1B3 SMAD4 SMO SRC STAT3 TGFB1 TGFB3 TGFBR2 TNFAIP3 TNFRSF10A TNFRSF10B TNFRSF10C TNFRSF10D UBR5 VEGFA WNT5A	10000 10036 10121 1119 1147 1293 1432 1571 1591 207 2146 2264 23054 23476 2475 253260 28234 2876 2932 324 3320 3551 3575 3586 3726 3934 3958 3976 4089 4288 4292 4314 4361 4436 4583 4763 51366 5335 53353 545 5468 54894 5562 55818 5606 563 572 5728 5733 5783 5967 5968 6198 6347 6608 6714 672 6774 6997 7040 7043 7048 7128 7422 7474 811 8140 8289 840 875 8793 8794 8795 8797 92 9956	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:3908	lung non-small cell carcinoma Aliases: NSCLC Non-small cell lung cancer non-small cell lung carcinoma	ABCB1 ABCC2 ABL1 ACVR1B ADAM28 AGER AKT1 AKT3 ALB ARID1A ARPC5 ATM BAD BAG6 BAMBI BAX BCL11A BCORL1 BIRC2 BRCA1 BRD7 CA12 CA9 CALR CASP6 CASP7 CASP9 CBL CDH13 CDKN1B CHI3L1 CHRNA3 CHRNA5 CHRNA7 CHRNB4 CLPTM1L CMPK1 CSF1R CUX1 CXCR4 CYP24A1 DDR1 DDR2 DNMT1 E2F1 EEF2 EGF EGFR EGR1 EIF4EBP1 EPAS1 ERBB3 ERCC5 ERCC6 ESR1 EZH2 FAP FAT1 FGF9 FGFR1 FGFR4 FH FOSL2 FOXA1 FOXL2 FOXP1 FRZB GPX1 GRP HDAC3 HIF1A HNRNPA1 HNRNPA2B1 HS3ST2 ICAM1 IDH2 IKZF2 IKZF3 IL1A IL1RN IL7 IL7R IRS4 ITGA9 ITGB1 ITGB3 JAK1 JUNB KAT2A KDM2A KDM3B KDM6A KDR KMT2C KMT2D L1CAM LAMB3 LAMC2 LEP LRP1B LTA LTF MAP2K4 MAP3K1 MET MIF MKI67 MLH1 MMP2 MMP9 MSH2 MYD88 NCOA2 NF1 NFKB1 NR3C1 NRP1 NSD2 NUF2 PBRM1 PDPK1 PECAM1 PLAU PLCG1 POLE PREX2 PRKAA1 PTEN PTGES PTGS2 PTPRB RARB RELA ROBO1 RRM1 RUNX1 RUNX2 RUNX3 SDHA SDHC SERPINF1 SFTPB SFTPD SLC3A2 SLC7A5 SMARCA4 SOX30 SPOP SPP1 STAT3 STAT5B STIM1 TAB2 TERT TET2 THBD TIMP3 TK1 TLR9 TNF TNFRSF1A TP53 TTR TYMP UBR5 UGT1A1 VEGFA XPO1 XPO5 XRCC1 ZFHX3	10000 10092 1012 1027 10499 10863 11063 1116 1136 1138 1139 1143 1244 1436 1523 1591 177 1786 1869 1890 1938 1950 1956 1958 1978 2034 2065 207 2073 2074 2099 213 2146 2191 2195 2254 2260 2264 2271 22806 22807 22992 23118 2355 2487 25 25805 2648 27086 2876 2908 29117 2922 3091 3169 3178 3181 329 3383 3418 3552 3557 3574 3575 3680 3688 3690 3716 3726 3791 3897 3914 3918 3952 4049 4057 4214 4233 4282 4288 4292 4313 4318 4436 4615 463 472 4763 4790 4921 51366 5170 51727 5175 5176 51780 5243 5328 53335 5335 53353 54106 5426 54658 54790 55193 5562 572 5728 5743 57510 5787 581 58508 5915 5970 6091 6240 63035 6389 6391 6416 6439 6441 6520 6597 668 6696 672 6774 6777 6786 7015 7056 7078 7083 7124 7132 7157 7276 7403 7422 7468 7514 7515 768 771 780 7852 7917 80243 8085 81037 811 8140 8289 83540 839 840 8405 842 8471 860 861 864 867 8829 8841 91 9536 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:5419	schizophrenia Aliases: schizophrenia-1	ACE AGER AKT1 AKT3 ANK3 APOA4 ARPC1A ARPC1B ASH2L ASTN1 ATF2 ATN1 ATP5F1C AVPR1A B3GAT2 BACE1 BCHE BCL11A BRD1 CACNA1D CACNA1I CALY CHI3L1 CHL1 CHRFAM7A CHRM2 CHRNA7 CHST3 CNNM2 CNR1 CNTNAP2 COMT CREB1 CSMD1 CSMD3 CTNND2 CTSC CYFIP1 DNMT1 DRD2 DRD3 DRD4 DTNBP1 EGF EGFR ELFN1 ELK1 ERBB4 FOXP1 FOXP2 FZD3 GAD1 GAD2 GIGYF2 GLUL GNAS GRIA4 GRIK1 GRIN1 GRIN2A GRIN2B GRIN2D GRM2 GRM5 GRM8 GSK3B HIVEP2 HSPA1A HSPA1B HSPA1L HTR2A HTR2C IL10 IMPA2 ITGA8 KCNN3 KDM1A KMO L1CAM LRP8 LRRN3 LRRTM1 MAN2A2 MAP2 MAP6 MBNL1 MBP MDK MED15 MTOR NCAM1 NCSTN NGF NLGN2 NOS1 NOTCH4 NRG1 NRG3 NRXN1 NTRK1 NTRK2 NTSR1 OPA1 OPRM1 PAFAH1B1 PAK1 PDGFRB PIK3CD PLCB1 PPARA PPM1G PPP1R9B PPP3CA PTGS2 RELN RIMS1 RIMS2 RTN4R SBNO1 SETD1A SETDB1 SHMT2 SLC18A1 SLC6A1 SLC6A3 SNAP25 SNCA SP4 SRGAP3 SYN2 SYNGAP1 TAAR1 TAP1 TBP TCF4 TNF TNFRSF11B TPH1 UFD1 VWF YWHAZ ZNF521	10000 10095 10552 10718 1075 10752 1116 1129 1139 114788 1268 1312 134864 135152 1385 1386 1501 1636 177 1786 1813 1814 1815 1822 1950 1956 2002 2066 207 22999 23028 23191 23236 23385 23621 23774 2475 2571 2572 25925 26047 26058 27086 2752 2778 288 2893 2897 2902 2903 2904 2906 2912 2915 2918 2932 3084 3097 3303 3304 3305 3356 3358 337 347730 3586 3613 3782 3897 392617 4122 4133 4135 4154 4155 4192 460 4684 4803 4842 4855 4914 4915 4923 4976 4982 4988 5048 5058 50632 509 51586 5159 5293 53335 5465 54674 54805 5496 552 55206 5530 5649 5743 57555 590 64478 6472 65078 6529 6531 6570 6616 6622 6671 6854 6890 6908 6925 7124 7166 7353 7450 7534 776 7804 7976 84062 84687 8516 8564 8831 8911 89832 9070 9378 93986 9469 9699 9739 9869 9901	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:10283	prostate cancer Aliases: NGP - new growth of prostate hereditary prostate cancer malignant tumor of the prostate prostate cancer, familial prostate neoplasm prostatic cancer prostatic neoplasm tumor of the prostate	ACP3 ACSL3 AFP AGAP2 AGER AKR1C3 AKT1 AKT2 AKT3 ALOX12 ANXA7 APC AR ATF3 AZGP1 BAX BMP2 BMP6 BMP7 BRCA1 BRCA2 CADM1 CBX5 CCNE2 CD44 CD55 CD82 CDC25A CDC25B CDH13 CDH1 CDK13 CHAF1B CHD1 CHD2 CHEK2 CHGA CHUK COMT CTNNA1 CTNNB1 CXCR4 CYP17A1 CYP1A1 CYP51A1 DAXX DNMT1 E2F1 E2F2 EEF2 EGFR EIF3H ELAC2 ENG ENO2 EP300 EPHB1 ERBB2 ERBB3 ERBB4 ESR1 EZH2 FABP5 FAS FGF7 FGFR1 FGFR2 FGFR4 FLT3 FOXO1 FOXO3 GOLM1 GRB2 GRP HDLBP HIF1A HLA-DRB1 HNRNPK HRAS ICAM1 IGF1R IGFBP3 IKBKB IL16 INHA INS JAK1 JUP KDM3A KDM4C KDM5B KDM6A KLK10 KLK13 KLK4 KLK6 KMT2A KMT2B KMT2C KMT2D KMT2E KRAS LEF1 MAGT1 MAP3K7 MAPK7 MEP1A MEP1B MMP13 MMP15 MMP2 MSH2 MSR1 MTOR MUC1 MXI1 MYC MYO6 NBN NCOA1 NCOA2 NCOA3 NCOA4 NFKB1 NOS3 NRAS OGG1 P4HA3 PDGFRB PDPK1 PEBP1 PHF8 PHLPP1 PIK3CB PLAU PNLIPRP1 POLE PON1 PREX1 PRPF8 PTEN PTGS2 PTK2 RAF1 RB1 RBL2 RNASEL SETD5 SETDB1 SIRT1 SKP2 SLCO1B3 SMARCA2 SMARCA4 SNRPE SOS1 SRC SRD5A1 SRD5A2 SREBF2 STAT3 STAT5A STAT6 SULT2A1 TCF3 TERT TFF1 TFF2 TFRC TGFB1 TGFBR2 THBS1 TIMP3 TLR2 TMEFF2 TNF TOP2A TP53 TUSC3 VDAC1 VEGFA WIF1 WNT2 XIAP XRCC1 ZFHX3	10000 1012 10499 10594 10765 1105 1106 1113 11197 11200 1147 116986 1312 1495 1499 1543 1586 1595 1604 1616 174 177 1786 1869 1870 1938 1956 2022 2026 2033 2047 2064 2065 2066 207 208 2099 2146 2171 2181 2252 2260 2263 2264 2308 23081 2309 23133 2322 23239 23411 23468 23671 23705 239 2475 26085 28234 283208 2885 2922 3069 3091 310 3123 3190 324 3265 331 3383 3480 3486 355 3551 3603 3623 3630 367 3716 3728 3732 3845 4224 4225 4297 4313 4322 4324 4436 4481 4582 4601 4609 463 4646 467 4683 4790 4846 4893 4968 5037 51176 51280 5159 5170 5291 5328 5407 5426 5444 55 55209 55818 55904 5598 563 5653 5655 5728 5743 5747 57580 581 58508 5894 5925 5934 6041 60528 650 6502 654 655 6595 6597 6635 6654 6714 6715 6716 672 6721 675 6774 6776 6778 6822 6885 6929 7015 7031 7032 7037 7040 7048 7057 7078 7097 7124 7153 7157 7403 7416 7422 7472 7515 7852 7991 8031 8085 8202 8208 84061 8621 8644 8648 8667 9134 960 9622 9757 9869 993 994 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:1574	alcohol use disorder Aliases: Ethanol abuse alcohol abuse	ACADS ACSS2 ACTL6A ADCY1 ADCYAP1R1 ADGRF3 ADH5 ADRA1A ADRA1B ADRA1D AKT1 AKT2 AKT3 ALDH2 ALYREF ANGPT1 ANGPT2 ANGPT4 ANGPTL3 ANGPTL4 ANGPTL6 ARID1A ARID2 ATF1 ATP1A1 ATP1A2 AUTS2 BDNF BRD7 CALB1 CAMK4 CAST CAT CDC5L CFL1 CHRNA1 CHRNA2 CHRNA3 CHRNA4 CHRNA6 CHRNB1 CHRNB2 CHRNB3 CHRND CHRNE CHRNG CIZ1 CLIC1 CLOCK CNR1 COMT CREB1 CREBBP CTSL CTSV CYP2E1 DBH DDX17 DRD1 DRD2 DRD3 DRD4 DRD5 EGFR EP300 EPS8 EPS8L2 ERBB2 ERBB3 ERBB4 FADS1 FADS2 FBRSL1 FMR1 FOS FOSB GABBR2 GABRA2 GABRB3 GAD1 GAD2 GDNF GHRHR GIPR GLP1R GPR21 GPR52 GRIA1 GRIN1 GRIN2B GRK1 GRK7 GSTO1 GSTO2 HDAC2 HOMER2 HTR1A HTR1B HTR2A HTR2C HTR3B HTR7 IGF2 IL10 JMJD1C KCNMA1 KCNU1 KDM3A KDM3B KDM4C KDM5B KDM6A KDM6B MADD MAOA MKI67 MLXIP MLXIPL MMP2 MMP9 NCAM1 NGF NOTCH1 NOTCH2 NOTCH3 NPY5R NR3C2 NRG1 NTF3 NTRK2 OPRD1 OPRK1 OPRL1 OPRM1 PBRM1 PCSK2 PDPK1 PIK3CB PIK3CD POMC PPP1R3B PPP1R3C PRKACB PRKCA PRKCH PRLHR PSD RAB3B RAC1 RAC2 RAC3 RASA1 RBPJ RPL18A RYR1 RYR2 RYR3 SHMT1 SHMT2 SIRT1 SLC32A1 SLC6A4 SMARCA2 SMARCA4 SMARCC1 SMARCC2 SMARCD1 SMARCD2 SOD1 SOX2 SREBF1 SREBF2 SRRM2 SSH2 ST6GAL1 STXBP1 STXBP2 SYP TIMELESS TPH1 UNC13A UNC13B UNC79 UTY VIPR1 VIPR2	10000 10189 10497 10521 107 1072 10765 1134 1135 1136 1137 1140 1141 1142 1144 1145 1146 117 1192 119391 1268 128 1312 131890 1385 1387 140679 146 147 148 1514 1515 1571 157855 1621 165082 1812 1813 1814 1815 1816 1956 196528 2033 2059 2064 2065 2066 207 208 217 221037 22877 23025 23081 23135 2332 23411 23524 2353 2354 2555 2562 2571 2572 25792 26053 2668 2692 2696 27329 2740 2834 284 2844 285 2890 2902 2904 29117 3066 3084 3350 3351 3356 3358 3363 3481 35 3516 3586 3778 3992 4128 4288 4306 4313 4318 466 4684 476 477 4803 4851 4853 4854 4889 4908 4915 4985 4986 4987 4988 51085 51129 5126 51378 5170 51780 5291 5293 5443 5507 55193 5567 5578 55818 5583 55902 5662 57578 57666 5865 5879 5880 5881 5921 6011 6142 6261 6262 6263 627 6470 6472 64787 6480 6532 6595 6597 6599 6601 6602 6603 6647 6657 6720 6721 6812 6813 6855 7166 7403 7404 7433 7434 793 79660 814 8289 831 83854 847 85464 8567 86 8914 8973 9177 9293 9415 9446 9455 9568 9575 988	Homo sapiens (human)	Alliance of Genome Resources
DOID:4450	renal cell carcinoma Aliases: RCC adenocarcinoma of kidney hypernephroma	ABCB1 ABCG2 ADGRB1 AFP AGTR1 AGTR2 AKT1 AKT3 ALOX12 AMACR ANGPT1 ANXA1 ANXA2 APC ARNT BAD BIRC2 BMP4 BMP6 BMP7 BSG BTG2 C4A C4B CA9 CAD CD44 CD46 CDH1 CDKN1B COMT CSF1R CTLA4 CTNNA1 CTNNB1 CYP1A1 DLL4 EGFR EPAS1 ERBB2 ERBB4 FAS FGFR1 FLCN FLT1 FN1 FRS2 FTO HAVCR1 HAVCR2 HIF1A HLA-DRB1 HNF1A IGF1R IGFBP3 IGFBP7 IL1RN IL2 IL4R INSR JUN JUP KANK1 KCNH1 KDM4C KDM6A KDM6B KIT KLK6 KRAS LEP LNPEP LTF MAP2K1 MET MLH1 MMP1 MMP2 MMP3 MMP9 MSH2 MTOR MUC1 MYC NME1 NR3C1 NRP1 OGG1 PAK1 PBRM1 PCNA PDCD1 PDGFRA PDGFRB PDPN PFAS PGF PLAU PLD2 PPAT PTEN PTGS1 PTGS2 RB1 RELA SFRP1 SKP2 SLC49A4 SMAD4 SMARCC1 SPARC ST14 STAT3 TERT TFE3 TFRC TGFB1 THRA TIMP1 TIMP3 TLR9 TNF TNFRSF10A TNFRSF1A TNFRSF1B TP53 TSC2 TYMP VEGFA VEGFC VWF WIF1 WNT11 XIAP XRCC1	10000 1027 10630 10818 11197 1312 1436 1493 1495 1499 1543 174 185 186 1890 1956 201163 2034 2064 2066 207 2260 23081 23135 23189 2321 2335 23600 239 2475 26762 284 2908 301 302 3091 3123 324 329 331 3480 3486 3490 355 3557 3558 3566 3643 3725 3728 3756 3815 3845 3952 4012 405 4057 4089 4179 4233 4292 4312 4313 4314 4318 4436 4582 4609 4830 4968 5058 5111 5133 5156 5159 5198 5228 5243 5328 5338 54106 54567 5471 55193 5604 5653 572 5728 5742 5743 575 5925 5970 6422 6502 652 654 655 6599 6678 6768 6774 682 6927 7015 7030 7037 7040 7067 7076 7078 7124 7132 7133 7157 720 721 7249 7403 7422 7424 7450 7481 7515 768 7832 790 79068 84868 84925 8797 8829 9429 960 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:2526	prostate adenocarcinoma	ADIPOQ AKT1 AKT2 AKT3 AR BIN1 CD9 CLU CREB3L4 GRB2 IGF1R IKBKB INSR JUN KDR MAP2K1 MYC NCOA2 PAM PDGFA PDGFRA PIK3CB PRKCQ RAF1 RELA STAT1	10000 10499 1191 148327 207 208 274 2885 3480 3551 3643 367 3725 3791 4609 5066 5154 5156 5291 5588 5604 5894 5970 6772 928 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:3068	glioblastoma Aliases: GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme	ADGRB1 ADGRL4 AKT3 ASPM ATRX BAG3 BRD7 CBX8 CHAF1B CHI3L1 CPE CPEB1 CTSB CTSH DMBT1 E2F1 EGF ENPP1 EZH2 FLT3LG HEATR1 HRAS IDH1 IL16 KCNC2 KDR KRAS L1CAM MAP2K2 MAP2K3 MDM2 MGMT MMP2 MMP9 NRAS PDGFB PDGFRB PDPN PGF PIK3CB PIK3CD POLE PTGS1 PTGS2 PTPRB RB1 RPL35A SERPING1 SLC7A5 STAT3 STAT5A TNC TP53 XRCC1	10000 10630 1116 1363 1508 1512 1755 1869 1950 2146 2323 259266 29117 3265 3371 3417 3603 3747 3791 3845 3897 4193 4255 4313 4318 4893 5155 5159 5167 5228 5291 5293 5426 546 55127 5605 5606 57332 5742 5743 575 5787 5925 6165 64123 64506 6774 6776 710 7157 7515 8140 8208 9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:4074	pancreatic adenocarcinoma Aliases: pancreas adenocarcinoma	ADGRB1 AKT3 CXCR4 E2F1 HRG JAK1 MAP2K1 MAPK9 NFKB1 PLAT RAC1 RAF1 VEGFC	10000 1869 3273 3716 4790 5327 5601 5604 575 5879 5894 7424 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:3069	malignant astrocytoma Aliases: Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma	ADGRB1 AKT1 AKT2 AKT3 ANXA1 ATRX BRD7 BST2 CADM2 CAMK2G FUBP1 HRAS IL16 KRAS MAP2K3 MRE11 NF1 PCMT1 SLC7A5	10000 207 208 253559 29117 301 3265 3603 3845 4361 4763 5110 546 5606 575 684 8140 818 8880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110399	retinitis pigmentosa 37 Aliases: RP37	NR2E3	10002	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090059	enhanced S-cone syndrome	NR2E3	10002	Homo sapiens (human)	Alliance of Genome Resources
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	CACNA1S KCNE3 SCN4A SCNN1B SCNN1D SCNN1G TUBB4A TUBB4B TUBB	10008 10382 10383 203068 6329 6338 6339 6340 779	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110223	Brugada syndrome 6 Aliases: BRGDA6	KCNE3	10008	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110711	congenital hypotrichosis with juvenile macular dystrophy Aliases: Hjmd hypotrichosis with cone-rod dystrophy	CDH3	1001	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111649	ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Aliases: EEM syndrome EEMS ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome	CDH3	1001	Homo sapiens (human)	Alliance of Genome Resources
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	ACAN ACE2 ACE ADAM17 ADIPOQ ADM ADRA2C ADRB1 ADRB2 ADRB3 AGER AGT AGTR1 AGTR2 ALB ALOX12 ALOX15 AOC3 APOA1 APOE ARRB1 BAX CALR CASQ2 CAT CBL CCL2 CCN1 CCR2 CD40LG CHEK2 CHI3L1 CHRM4 CHRNA4 CORIN CREB1 CS CXCR4 CYP11B1 CYP1A2 DDR1 DNMT1 DYRK1A ECE1 EDN1 ENG EP300 EPO ERBB2 ERBB4 EYA4 EZH2 FADS1 FADS2 FAS FASLG FOS FOXC1 FOXO1 FOXP1 FOXP4 FTH1 FTO GNB1 GP6 GRK1 GRK3 GRP HIF1A HMGB1 HP HPR HSF1 HTR2A HTR2B IL10 IL17A IL6 IL6R INHBA KCNE1 KCNK2 LEPR LGALS3 LIF LTBP2 MAS1 MDH2 MED1 MME MMP13 MMP14 MMP1 MMP2 MMP3 MMP8 MMP9 MSTN MTOR MYH7 NCAM1 NFE2L2 NGFR NME2 NOS1 NOS3 NPPA NPPB NPTXR NR3C1 OGT OPA1 OPRK1 P2RX4 PARP1 PGF PHF6 PLA2G7 PLCD1 PLD2 POSTN PPARGC1A PPP1CC PRKCA PTGIS RAC1 RAMP2 RAPGEF3 RBM10 RBP4 REN RRAD RYR1 RYR2 SCN5A SCN8A SELP SIRT3 SLC22A5 SLC2A4 SLC6A4 SLC8A1 SLC9A1 SMC1A SOD2 SOX2 SRA1 SRF TIMP1 TNF TNFRSF11B TNFRSF1B TREM1 UCP2 UCP3 YY1	10011 10266 10411 10631 10699 10891 1116 11200 1132 1137 116113 133 1385 142 1431 152 153 154 1544 155 157 1584 1636 176 177 1786 183 185 1859 186 1889 1906 2022 2033 2056 2064 2066 2070 213 2146 2296 2308 23410 23467 2353 239 246 2475 2495 2660 27086 2782 2908 2922 3091 3146 3240 3250 3297 335 3356 3357 348 3491 355 356 3569 3570 3586 3605 3624 3753 3776 3953 3958 3976 3992 4053 408 4142 4191 4311 4312 4313 4314 4317 4318 4322 4323 4625 4684 4780 4804 4831 4842 4846 4878 4879 4976 4982 4986 5025 51206 5228 5333 5338 54210 5469 5501 5578 5740 581 5879 59272 5950 5972 6011 6236 6261 6262 6331 6334 6347 6403 6517 6532 6546 6548 6584 6648 6657 6722 6868 7076 7124 7133 729230 7351 7352 7528 780 7852 79068 7941 811 8241 8243 84295 845 847 8473 8639 867 9370 9415 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050565	autosomal recessive nonsyndromic deafness	CDH23 CLRN2 GPR156 MINAR2 PKHD1L1 TMTC4	100127206 165829 64072 645104 84899 93035	Homo sapiens (human)	Alliance of Genome Resources

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