DE_00477 chr12 57523550 57557000 LRP1 Abdominal aortic aneurysm DE_00146 chr12 66580602 66583000 IRAK3 Acute lung injury DE_00003 chr3 187602695 187702695 BCL6 Acute lymphoblastic leukemia DE_00005 chr3 187443146 187468463 MYC Acute lymphoblastic leukemia DE_00006 chr8 128857956 128964803 MYC Acute lymphoblastic leukemia DE_00007 chr3 187800876 187841876 BCL6 Acute lymphoblastic leukemia DE_00008 chr3 187951516 187966329 BCL6 Acute lymphoblastic leukemia DE_00128 chr11 8288480 8290480 LMO1 Acute lymphoblastic leukemia DE_00182 chr1 47703954 47705983 TAL1 Acute lymphoblastic leukemia DE_00291 chr3 187777802 187780400 BCL6 Acute lymphoblastic leukemia DE_00292 chr3 187781802 187783600 BCL6 Acute lymphoblastic leukemia DE_00293 chr3 187784002 187785200 BCL6 Acute lymphoblastic leukemia DE_00294 chr3 187785402 187786600 BCL6 Acute lymphoblastic leukemia DE_00295 chr3 187787202 187787400 BCL6 Acute lymphoblastic leukemia DE_00296 chr3 187789602 187790200 BCL6 Acute lymphoblastic leukemia DE_00297 chr3 187790202 187790800 BCL6 Acute lymphoblastic leukemia DE_00298 chr3 187793202 187796600 BCL6 Acute lymphoblastic leukemia DE_00299 chr3 187798802 187801400 BCL6 Acute lymphoblastic leukemia DE_00300 chr3 187801802 187802000 BCL6 Acute lymphoblastic leukemia DE_00301 chr3 187802002 187804000 BCL6 Acute lymphoblastic leukemia DE_00302 chr3 187806802 187811600 BCL6 Acute lymphoblastic leukemia DE_00303 chr3 187811602 187811800 BCL6 Acute lymphoblastic leukemia DE_00304 chr3 187813202 187813600 BCL6 Acute lymphoblastic leukemia DE_00305 chr3 187815202 187816400 BCL6 Acute lymphoblastic leukemia DE_00306 chr3 187817602 187818600 BCL6 Acute lymphoblastic leukemia DE_00458 chr10 6074002 6104800 IL2RA Acute lymphoblastic leukemia DE_00465 chr8 129067402 129081000 MYC Acute lymphoblastic leukemia DE_00514 chr8 128191002 128193600 MYC Acute lymphoblastic leukemia DE_00637 chr8 129175602 129199400 MYC Acute lymphoblastic leukemia DE_01013 chr1 66726202 66753400 PDE4B Acute lymphoblastic leukemia DE_00001 chr21 47819654 47820374 ERG Acute myeloid leukemia DE_00021 chr3 128320778 128328914 EVI1, GATA2 Acute myeloid leukemia DE_00404 chr3 128291911 128293310 EVI1 Acute myeloid leukemia DE_00265 chr22 40741514 40743514 ADSL Adenylosuccinate lyase deficiency DE_00433 chr10 102978207 102980207 LBX1 Adolescent idiopathic scoliosis DE_00860 chr2 233154402 233159800 GIGYF2 Adrenocortical carcinoma DE_00902 chr5 1725202 1726000 TERT Adrenocortical carcinoma DE_00939 chr16 663202 685800 STUB1 Adrenocortical carcinoma DE_00313 chr5 124708335 124710392 LMNB1 Adult-onset demyelinating leukodystrophy DE_00314 chr5 124651163 124654187 LMNB1 Adult-onset demyelinating leukodystrophy DE_00315 chr5 125344507 125346243 LMNB1 Adult-onset demyelinating leukodystrophy DE_00129 chr1 206941402 206947400 IL10 Advanced liver disease DE_00029 chr10 124217002 124220400 HTRA1 Age-related macular degeneration DE_00633 chr4 100075402 100080200 ADH4 Alcoholism DE_01033 chr2 8440002 8455200 ID2 Allergy DE_00181 chr14 73602802 73603000 PSEN1 Alzheimers disease DE_00244 chr19 9943002 9945400 PIN1 Alzheimers disease DE_01027 chr8 27449602 27475600 PTK2B, CLU, EPHX2 Alzheimers disease DE_00510 chr20 62588602 62596200 ZNF512B Amyotrophic lateral sclerosis DE_00009 chr11 31534353 31542527 PAX6 Aniridia DE_00083 chr11 31676019 31679740 PAX6 Aniridia DE_00155 chr13 47471402 47471600 HTR2A Anorexia nervosa DE_00127 chr1 173886202 173887200 SERPINC1 Antithrombin deficiency DE_00326 chr5 147257162 147259162 SCGB3A2 Asthma DE_00327 chr5 156604202 156609777 ITK Asthma DE_00460 chr17 38028120 38030120 ORMDL3 Asthma DE_00554 chr17 38071002 38082600 ORMDL3 Asthma DE_00650 chr3 123323002 123427800 MYLK Asthma DE_00198 chr17 34204402 34208600 CCL5 Atopic dermatitis DE_00573 chr2 71077802 71079600 CD207 Atopic dermatitis DE_00503 chr4 111709169 111711169 PITX2 Atrial fibrillation DE_01037 chr1 170586602 170590000 PRRX1 Atrial fibrillation DE_00486 chr4 62860941 62862941 ADGRL3 Attention-deficit/hyperactivity disorder DE_00509 chr4 62861251 62863251 ADGRL3 Attention-deficit/hyperactivity disorder DE_00582 chr4 62860964 62862964 ADGRL3 Attention-deficit/hyperactivity disorder DE_00395 chrX 1732783 1734783 ASMT Autism spectrum disorder DE_00396 chrX 1732892 1734892 ASMT Autism spectrum disorder DE_00398 NA NA NA SHOX Autism spectrum disorder DE_00556 chr5 25966202 25968000 MSNP1AS Autism spectrum disorder DE_00437 chr10 6074002 6104800 IL2RA Autoimmune disease DE_00532 chr5 96273002 96281400 ERAP2 Autoimmune disease DE_00074 chr11 113845402 113846400 HTR3A Bipolar affective disorder DE_00243 chr1 98514539 98516539 MIR137, MIR2682 Bipolar disorder DE_00262 chr22 29195757 29197757 XBP1 Bipolar disorder DE_00571 chr12 2339802 2367400 CACNA1C Bipolar disorder DE_00383 chr8 23081971 23083971 TNFRSF10A Bladder cancer DE_00432 chr17 71006202 71007000 ZIP11 Bladder cancer DE_00577 chr17 71011473 71013473 ZIP11 Bladder cancer DE_00648 chr19 30295402 30298800 CCNE1 Bladder cancer DE_00784 chrX 107711402 107712600 IRS4 Bladder Urothelial Carcinoma DE_00787 chrX 8640202 8640600 TBL1X Bladder Urothelial Carcinoma DE_00805 chr6 151193402 151207200 MTHFD1L Bladder Urothelial Carcinoma DE_00816 chr10 90986602 91006000 LIPA Bladder Urothelial Carcinoma DE_00823 chr4 101083002 101083200 PPP3CA Bladder Urothelial Carcinoma DE_00836 chr6 167395002 167395200 MLLT4 Bladder Urothelial Carcinoma DE_00856 chr17 15879602 15880800 NCOR1 Bladder Urothelial Carcinoma DE_00866 chr2 233154402 233159800 GIGYF2 Bladder Urothelial Carcinoma DE_00878 chr3 15599802 15600000 BTD Bladder Urothelial Carcinoma DE_00899 chrX 128374202 128374800 SMARCA1 Bladder Urothelial Carcinoma DE_00911 chr5 1725202 1726000 TERT Bladder Urothelial Carcinoma DE_00920 chr16 84240602 84241000 OSGIN1 Bladder Urothelial Carcinoma DE_00932 chrX 105549002 105550400 TSC22D3 Bladder Urothelial Carcinoma DE_00945 chr16 663202 685800 STUB1 Bladder Urothelial Carcinoma DE_00971 chr11 2158202 2159200 KCNQ1 Bladder Urothelial Carcinoma DE_00978 chr11 16759202 16759800 INSC Bladder Urothelial Carcinoma DE_00985 chrX 23575002 23575800 PTCHD1 Bladder Urothelial Carcinoma DE_00269 chr3 138948982 138956382 FOXL2 Blepharophimosis syndrome DE_00270 chr3 138949278 138949493 FOXL2 Blepharophimosis syndrome DE_00271 chr3 138953065 138953195 FOXL2 Blepharophimosis syndrome DE_00272 chr3 138953777 138953924 FOXL2 Blepharophimosis syndrome DE_00273 chr3 138952230 138952626 FOXL2 Blepharophimosis syndrome DE_00634 chr3 138953406 138953701 FOXL2 Blepharophimosis syndrome DE_00275 chr3 138955586 138955719 FOXL2 Blepharophimosis syndrome DE_00276 chr3 138949637 138949735 FOXL2 Blepharophimosis syndrome DE_00277 chr3 138956092 138956195 FOXL2 Blepharophimosis syndrome DE_00278 chr3 140436096 140436391 FOXL2 Blepharophimosis syndrome DE_00279 chr3 140432327 140432425 FOXL2 Blepharophimosis syndrome DE_00280 chr3 140438276 140438409 FOXL2 Blepharophimosis syndrome DE_00281 chr3 140434920 140435316 FOXL2 Blepharophimosis syndrome DE_00282 chr3 140435755 140435885 FOXL2 Blepharophimosis syndrome DE_00283 chr3 140431968 140432183 FOXL2 Blepharophimosis syndrome DE_00284 chr3 140438782 140438885 FOXL2 Blepharophimosis syndrome DE_00285 chr3 140436467 140436614 FOXL2 Blepharophimosis syndrome DE_00042 chr10 6243287 6244600 GATA3 Breast cancer DE_00044 chr10 7567002 7567600 GATA3 Breast cancer DE_00045 chr10 7927151 7929152 GATA3 Breast cancer DE_00046 chr10 8066866 8068867 GATA3 Breast cancer DE_00047 chr10 8098002 8121400 GATA3 Breast cancer DE_00048 chr10 8372002 8377000 GATA3 Breast cancer DE_00049 chr10 8390002 8394400 GATA3 Breast cancer DE_00050 chr10 8402002 8404600 GATA3 Breast cancer DE_00051 chr10 8405602 8410600 GATA3 Breast cancer DE_00052 chr10 8898177 8900178 GATA3 Breast cancer DE_00053 chr10 8898312 8900313 GATA3 Breast cancer DE_00054 chr10 8899652 8901653 GATA3 Breast cancer DE_00055 chr10 8902379 8904380 GATA3 Breast cancer DE_00056 chr10 8910062 8912063 GATA3 Breast cancer DE_00060 chr10 89871002 89874800 PTEN Breast cancer DE_00061 chr10 89909402 89919200 PTEN Breast cancer DE_00062 chr10 89937602 89938400 PTEN Breast cancer DE_00063 chr10 90142802 90152600 PTEN Breast cancer DE_00064 chr10 9078498 9080499 GATA3 Breast cancer DE_00065 chr10 9111313 9113314 GATA3 Breast cancer DE_00066 chr10 9116103 9118104 GATA3 Breast cancer DE_00067 chr10 9200402 9201600 GATA3 Breast cancer DE_00068 chr10 9214998 9216999 GATA3 Breast cancer DE_00069 chr10 9342954 9344955 GATA3 Breast cancer DE_00071 chr11 107879536 107881537 ATM Breast cancer DE_00072 chr11 108209402 108213400 ATM Breast cancer DE_00073 chr11 109962202 109963400 ATM Breast cancer DE_00092 chr11 68837002 68866200 CCND1 Breast cancer DE_00093 chr11 68869602 68873200 CCND1 Breast cancer DE_00094 chr11 68880643 68882644 CCND1 Breast cancer DE_00095 chr11 68885052 68887053 CCND1 Breast cancer DE_00096 chr11 69050978 69052979 CCND1 Breast cancer DE_00097 chr11 69052154 69054155 CCND1 Breast cancer DE_00098 chr11 69083602 69090000 CCND1 Breast cancer DE_00099 chr11 69191002 69193000 CCND1 Breast cancer DE_00100 chr11 69242913 69244914 CCND1 Breast cancer DE_00101 chr11 69249002 69254400 CCND1 Breast cancer DE_00102 chr11 69255005 69257006 CCND1 Breast cancer DE_00103 chr11 69255008 69257009 CCND1 Breast cancer DE_00104 chr11 69255011 69257012 CCND1 Breast cancer DE_00105 chr11 69257002 69267000 CCND1 Breast cancer DE_00106 chr11 69276802 69281000 CCND1 Breast cancer DE_00107 chr11 69281002 69287200 CCND1 Breast cancer DE_00108 chr11 69286640 69288641 CCND1 Breast cancer DE_00109 chr11 69299402 69305200 CCND1 Breast cancer DE_00110 chr11 69304799 69306800 CCND1 Breast cancer DE_00111 chr11 69308202 69315800 CCND1 Breast cancer DE_00112 chr11 69314935 69316936 CCND1 Breast cancer DE_00113 chr11 69316977 69318978 CCND1 Breast cancer DE_00114 chr11 69317175 69319176 CCND1 Breast cancer DE_00115 chr11 69323989 69325990 CCND1 Breast cancer DE_00116 chr11 69329742 69331743 CCND1 Breast cancer DE_00117 chr11 69331202 69334200 CCND1 Breast cancer DE_00118 chr11 69344852 69346853 CCND1 Breast cancer DE_00119 chr11 69351202 69352000 CCND1 Breast cancer DE_00120 chr11 69353002 69356800 CCND1 Breast cancer DE_00121 chr11 69390202 69391200 CCND1 Breast cancer DE_00122 chr11 69415853 69417854 CCND1 Breast cancer DE_00123 chr11 69417602 69419000 CCND1 Breast cancer DE_00124 chr11 69430402 69432400 CCND1 Breast cancer DE_00125 chr11 69457802 69476800 CCND1 Breast cancer DE_00136 chr12 115103602 115120400 TBX3 Breast cancer DE_00137 chr12 11836402 11997800 ETV6 Breast cancer DE_00138 chr12 12027802 12051800 ETV6 Breast cancer DE_00141 chr12 12870602 12876600 CDKN1B Breast cancer DE_00142 chr12 12879202 12880200 ETV6 Breast cancer DE_00143 chr12 12950802 12966200 CDKN1B Breast cancer DE_00144 chr12 50450445 50452446 SMARCD1 Breast cancer DE_00145 chr1 26437008 26439009 ARID1A Breast cancer DE_00147 chr1 26798602 26799000 ARID1A Breast cancer DE_00148 chr1 27092402 27102800 ARID1A Breast cancer DE_00149 chr1 27491202 27494000 ARID1A Breast cancer DE_00150 chr1 27719602 27726400 ARID1A Breast cancer DE_00152 chr13 32890402 32895400 BRCA2 Breast cancer DE_00153 chr13 33213602 33214600 BRCA2 Breast cancer DE_00156 chr13 48610842 48612843 RB1 Breast cancer DE_00161 chr14 105191402 105218800 AKT1 Breast cancer DE_00162 chr14 105220202 105228800 AKT1 Breast cancer DE_00163 chr14 105267802 105272600 AKT1 Breast cancer DE_00164 chr14 105443532 105445533 AKT1 Breast cancer DE_00165 chr14 37709185 37711186 FOXA1 Breast cancer DE_00166 chr14 37709806 37711807 FOXA1 Breast cancer DE_00167 chr14 37722745 37724746 FOXA1 Breast cancer DE_00168 chr14 37732002 37733800 FOXA1 Breast cancer DE_00169 chr14 38057802 38060800 FOXA1 Breast cancer DE_00170 chr14 38117241 38119242 FOXA1 Breast cancer DE_00171 chr14 38119402 38120400 FOXA1 Breast cancer DE_00172 chr14 38125241 38127242 FOXA1 Breast cancer DE_00173 chr14 38163005 38165006 FOXA1 Breast cancer DE_00174 chr14 38165802 38169400 FOXA1 Breast cancer DE_00175 chr14 38179002 38179800 FOXA1 Breast cancer DE_00176 chr14 38181676 38183677 FOXA1 Breast cancer DE_00177 chr14 38181684 38183685 FOXA1 Breast cancer DE_00178 chr14 38181915 38183916 FOXA1 Breast cancer DE_00179 chr14 38183293 38185294 FOXA1 Breast cancer DE_00189 chr16 68738002 68739200 CDH1 Breast cancer DE_00190 chr16 68740002 68742600 CDH1 Breast cancer DE_00191 chr16 68748802 68750800 CDH1 Breast cancer DE_00192 chr16 68751380 68753381 CDH1 Breast cancer DE_00193 chr16 68807602 68838400 CDH1 Breast cancer DE_00194 chr17 16125784 16127785 NCOR1 Breast cancer DE_00195 chr17 16127122 16129123 NCOR1 Breast cancer DE_00199 chr17 41278202 41283200 BRCA1 Breast cancer DE_00200 chr17 41442802 41451800 BRCA1 Breast cancer DE_00201 chr17 55928202 56033000 RAD51C Breast cancer DE_00202 chr17 56402802 56429200 RAD51C Breast cancer DE_00203 chr17 56490423 56492424 RAD51C Breast cancer DE_00204 chr17 56564602 56566000 RAD51C Breast cancer DE_00205 chr17 56685893 56687894 RAD51C Breast cancer DE_00206 chr17 56686036 56688037 RAD51C Breast cancer DE_00207 chr17 56726563 56728564 RAD51C Breast cancer DE_00208 chr17 56819202 56819800 RAD51C Breast cancer DE_00209 chr17 56840079 56842080 RAD51C Breast cancer DE_00210 chr17 57030202 57030600 RAD51C Breast cancer DE_00211 chr17 57231982 57233983 RAD51C Breast cancer DE_00212 chr17 57286802 57287400 RAD51C Breast cancer DE_00213 chr17 57288002 57291600 RAD51C Breast cancer DE_00214 chr17 57900602 57938400 RAD51C Breast cancer DE_00215 chr17 59366002 59367600 BRIP1 Breast cancer DE_00216 chr17 59375306 59377307 BRIP1 Breast cancer DE_00217 chr17 59376191 59378192 BRIP1 Breast cancer DE_00218 chr17 59524138 59526139 BRIP1 Breast cancer DE_00219 chr17 59714852 59716853 BRIP1 Breast cancer DE_00220 chr17 59721479 59723480 BRIP1 Breast cancer DE_00221 chr17 59721480 59723481 BRIP1 Breast cancer DE_00222 chr17 59788086 59790087 BRIP1 Breast cancer DE_00231 chr17 7464409 7466410 TP53 Breast cancer DE_00232 chr17 7531602 7539800 TP53 Breast cancer DE_00233 chr17 7576002 7581800 TP53 Breast cancer DE_00234 chr17 7620215 7622216 TP53 Breast cancer DE_00247 chr20 55683202 55685000 BRIP1 Breast cancer DE_00248 chr20 55700207 55702208 BRIP1 Breast cancer DE_00249 chr20 55701731 55703732 BRIP1 Breast cancer DE_00250 chr20 55773202 55775000 BRIP1 Breast cancer DE_00251 chr20 55794802 55796000 BRIP1 Breast cancer DE_00252 chr20 55828393 55830394 BRIP1 Breast cancer DE_00254 chr2 202310602 202315600 CASP8 Breast cancer DE_00255 chr2 202899002 202907600 CASP8 Breast cancer DE_00260 chr22 29195386 29197387 CHEK2 Breast cancer DE_00261 chr22 29195404 29197405 CHEK2 Breast cancer DE_00263 chr22 29203202 29221400 CHEK2 Breast cancer DE_00289 chr3 184918694 184920695 MAP3K13 Breast cancer DE_00290 chr3 185215716 185217717 MAP3K13 Breast cancer DE_00308 chr3 52208402 52213400 PBRM1 Breast cancer DE_00309 chr3 52273602 52279400 PBRM1 Breast cancer DE_00310 chr3 52720602 52733400 PBRM1 Breast cancer DE_00316 chr5 131825021 131827022 RAD50 Breast cancer DE_00317 chr5 131832561 131842800 RAD50 Breast cancer DE_00318 chr5 131891812 131893813 RAD50 Breast cancer DE_00319 chr5 131897457 131899458 RAD50 Breast cancer DE_00321 chr5 132083402 132113200 RAD50 Breast cancer DE_00328 chr5 55707402 55715400 MAP3K1 Breast cancer DE_00329 chr5 55724802 55727400 MAP3K1 Breast cancer DE_00330 chr5 55785602 55788000 MAP3K1 Breast cancer DE_00331 chr5 55831915 55833916 MAP3K1 Breast cancer DE_00332 chr5 55964002 55974800 MAP3K1 Breast cancer DE_00333 chr6 150464402 150470200 ESR1 Breast cancer DE_00334 chr6 151923498 151925498 ESR1 Breast cancer DE_00335 chr6 151934148 151936149 ESR1 Breast cancer DE_00336 chr6 151936602 151938200 ESR1 Breast cancer DE_00337 chr6 151954202 151955600 ESR1 Breast cancer DE_00338 chr6 151956875 151958876 ESR1 Breast cancer DE_00339 chr6 151957185 151959186 ESR1 Breast cancer DE_00340 chr6 151961602 151962000 ESR1 Breast cancer DE_00341 chr6 152022202 152025200 ESR1 Breast cancer DE_00342 chr6 152232402 152232800 ESR1 Breast cancer DE_00343 chr6 152359637 152361637 ESR1 Breast cancer DE_00344 chr6 156983421 156985422 ARID1B Breast cancer DE_00345 chr6 157035202 157045000 ARID1B Breast cancer DE_00346 chr6 157103602 157113000 ARID1B Breast cancer DE_00347 chr6 157141402 157155600 ARID1B Breast cancer DE_00348 chr6 157388974 157390975 ARID1B Breast cancer DE_00385 chr8 91585002 91588400 NBN Breast cancer DE_00387 chr9 139387202 139439400 NOTCH1 Breast cancer DE_00388 chr9 139441002 139474600 NOTCH1 Breast cancer DE_00389 chr9 139489602 139506800 NOTCH1 Breast cancer DE_00390 chr9 139508202 139524200 NOTCH1 Breast cancer DE_00391 chr9 139923202 139932200 NOTCH1 Breast cancer DE_00408 chr2 202204602 202204800 CASP8 Breast cancer DE_00412 chr20 32603402 32618600 RALY Breast cancer DE_00428 chr21 43795913 43797913 TFF1 Breast cancer DE_00430 chr5 44705498 44707498 MRPS30, FGF10 Breast cancer DE_00445 chr6 86245709 86247709 SNHG5 Breast cancer DE_00448 chr6 86222316 86224316 SNHG5 Breast cancer DE_00450 chr6 86257614 86259614 SNHG5 Breast cancer DE_00485 chr6 151957815 151959815 ESR1, RMND1 Breast cancer DE_00508 chr20 32645602 32658600 RALY Breast cancer DE_00520 chr1 121111052 121113052 NOTCH2 Breast cancer DE_00536 chr21 43793402 43796800 TFF1 Breast cancer DE_00538 chr10 123330602 123341000 FGFR2, FGER2 Breast cancer DE_00551 chr16 52586002 52588400 TOX3 Breast cancer DE_00561 chr10 123348002 123356600 FGFR2 Breast cancer DE_00564 chr5 56029202 56034400 C5orf35 Breast cancer DE_00572 chr16 52590402 52600200 TOX3 Breast cancer DE_00600 chr6 86223053 86225053 SNHG5 Breast cancer DE_00602 chr6 151948602 151950000 ESR1, RMND1, CCDC170 Breast cancer DE_00603 chr2 217908802 217915800 IGFBP5 Breast cancer DE_00605 chr6 86205202 86205800 SNHG5 Breast cancer DE_00654 chr6 152431802 152435400 ESR1, RMND1 Breast cancer DE_00659 chr6 151953002 151954000 ESR1 Breast cancer DE_00661 chr6 86246799 86248799 SNHG5 Breast cancer DE_00672 chr7 982022 987232 ADAP1 Breast cancer DE_00673 chr20 46596925 46629770 SULF2 Breast cancer DE_00674 chr20 46607484 46625994 SULF2 Breast cancer DE_00675 chr20 52746491 52752686 SULF2 Breast cancer DE_00676 chr20 46600794 46602794 SULF2 Breast cancer DE_00677 chr20 46471574 46474237 SULF2 Breast cancer DE_00678 chr20 46308194 46310194 SULF2 Breast cancer DE_00679 chr20 46829594 46831594 SULF2 Breast cancer DE_00680 chr20 46774657 46824217 SULF2 Breast cancer DE_00681 chr20 46795661 46801089 SULF2 Breast cancer DE_00682 chr20 47364594 47366594 SULF2 Breast cancer DE_00683 chr20 46686594 46688594 SULF2 Breast cancer DE_00684 chr20 45989520 45989795 SULF2 Breast cancer DE_00685 chr4 49126444 49128444 OCIAD2 Breast cancer DE_00686 chr4 49140244 49142244 OCIAD2 Breast cancer DE_00687 chr4 49141844 49143844 OCIAD2 Breast cancer DE_00688 chr20 62084557 62086557 NKAIN4 Breast cancer DE_00689 chr20 62132357 62134357 NKAIN4 Breast cancer DE_00690 chr20 61962405 61962555 NKAIN4 Breast cancer DE_00691 chr20 61883425 61888283 NKAIN4 Breast cancer DE_00692 chr20 61806805 61806955 NKAIN4 Breast cancer DE_00693 chr10 374401 376401 ZMYND11 Breast cancer DE_00694 chr10 124260 127839 ZMYND11 Breast cancer DE_00695 chr12 53614134 53616134 RARG Breast cancer DE_00696 chr12 53689134 53691134 RARG Breast cancer DE_00697 chr12 53764134 53766134 RARG Breast cancer DE_00698 chr20 46180594 46182594 SULF2 Breast cancer DE_00699 chr1 2614541 2616541 PANK4 Breast cancer DE_00700 chr1 2616941 2618941 PANK4 Breast cancer DE_00701 chr1 2246305 2246495 PANK4 Breast cancer DE_00702 chr16 30669100 30671100 C16orf93, SRCAP Breast cancer DE_00703 chr16 30669505 30669790 C16orf93, ZNF48, SRCAP, PHKG2 Breast cancer DE_00704 chr16 30749130 30756602 C16orf93 Breast cancer DE_00705 chr16 30751900 30753900 C16orf93, PHKG2, SRCAP Breast cancer DE_00706 chr16 30934300 30936300 C16orf93, ZNF48, PHKG2 Breast cancer DE_00707 chr16 31152700 31154700 C16orf93 Breast cancer DE_00708 chr16 31152900 31154900 C16orf93 Breast cancer DE_00709 chr16 31153505 31153675 C16orf93, PHKG2, SRCAP Breast cancer DE_00710 chr17 81140430 81154155 METRNL Breast cancer DE_00711 chr17 81145437 81154157 METRNL Breast cancer DE_00712 chr20 52699874 52705785 SULF2 Breast cancer DE_00713 chr20 52700009 52706788 SULF2 Breast cancer DE_00714 chr16 29910700 29912700 ZNF48 Breast cancer DE_00715 chr16 30345100 30347100 ZNF48 Breast cancer DE_00716 chr16 30346020 30346195 ZNF48, SRCAP Breast cancer DE_00717 chr16 30721242 30729414 SRCAP Breast cancer DE_00718 chr16 30747398 30755461 SRCAP Breast cancer DE_00719 chr8 145911793 145913793 ZNF517, RPL8 Breast cancer DE_00720 chr4 190958607 190960607 FRG2 Breast cancer DE_00721 chr1 2473421 2482159 PEX10 Breast cancer DE_00722 chr1 2474240 2481266 PEX10 Breast cancer DE_00723 chr1 2346941 2348941 PEX10 Breast cancer DE_00724 chr1 2244941 2246941 PEX10 Breast cancer DE_00725 chr20 60909409 60912143 LAMA5 Breast cancer DE_00726 chr20 60998206 61000206 LAMA5 Breast cancer DE_00727 chr20 61686356 61688356 LAMA5 Breast cancer DE_00728 chr20 60876406 60878406 LAMA5 Breast cancer DE_00729 chr12 52343734 52345734 KRT80 Breast cancer DE_00730 chr12 53458934 53460934 KRT80 Breast cancer DE_00731 chr12 52416134 52418134 KRT80 Breast cancer DE_00732 chr12 52416734 52418734 KRT80 Breast cancer DE_00733 chr4 1769135 1782393 FGFR3 Breast cancer DE_00734 chr4 1762585 1762735 FGFR3 Breast cancer DE_00735 chr17 61776669 61778669 DCAF7 Breast cancer DE_00736 chr17 61513469 61515469 DCAF7 Breast cancer DE_00737 chr17 61042869 61044869 DCAF7 Breast cancer DE_00738 chr7 101929905 101930115 CUX1 Breast cancer DE_00739 chr7 101358313 101363414 CUX1 Breast cancer DE_00740 chr7 101360494 101364353 CUX1 Breast cancer DE_00741 chr7 101582792 101593292 CUX1 Breast cancer DE_00742 chr16 30749050 30754714 SRCAP Breast cancer DE_00743 chr22 50627110 50632030 TRABD Breast cancer DE_00744 chr22 50714605 50714910 TRABD Breast cancer DE_00745 chr22 50637674 50639674 TRABD Breast cancer DE_00746 chr22 50608540 50608695 TRABD Breast cancer DE_00747 chr4 1804443 1813395 FGFR3 Breast cancer DE_00748 chr20 46775569 46780963 SULF2 Breast cancer DE_00749 chr20 46778394 46780394 SULF2 Breast cancer DE_00750 chr20 46697275 46716858 SULF2 Breast cancer DE_00751 chr20 47374194 47376194 PREX1 Breast cancer DE_00752 chr20 47374855 47379348 PREX1 Breast cancer DE_00753 chr20 47119394 47121394 PREX1 Breast cancer DE_00754 chr20 61888547 61900656 NKAIN4 Breast cancer DE_00755 chr17 81024312 81026312 METRNL Breast cancer DE_00756 chr19 45980761 45982761 PPM1N Breast cancer DE_00757 chr19 45981680 45981935 PPM1N Breast cancer DE_00758 chr19 45972165 45972315 PPM1N Breast cancer DE_00759 chr19 46319965 46320115 PPM1N Breast cancer DE_00992 chr1 185903622 185904645 HMCN1 Breast cancer DE_00993 chr1 21660551 21662029 ALPL Breast cancer DE_00995 chr1 46476793 46477209 MAST2 Breast cancer DE_00996 chr15 78292337 78292883 ACSBG1 Breast cancer DE_00997 chr1 928510 931954 ATAD3B Breast cancer DE_00998 chr20 62115827 62119284 ARFGAP1 Breast cancer DE_00999 chr2 216531968 216533440 FN1 Breast cancer DE_01000 chr5 1325957 1328153 CLPTM1L Breast cancer DE_01001 chr6 28948439 28951450 TRIM27 Breast cancer DE_01002 chr8 579137 581436 ZNF596 Breast cancer DE_01008 chr12 14407602 14416600 ATP7IP Breast cancer DE_01015 chr4 88923202 88924800 ABCG2 Breast cancer DE_01059 chr4 89061202 89078800 ABCG2 Breast cancer DE_00320 chr5 132007802 132009200 IL4 Bronchial asthma DE_00584 chr11 112025156 112027156 IL-18 Bronchial asthma DE_00498 chr1 162020000 162022000 NOS1AP Cardiac disorders DE_00623 chr1 162019969 162021969 NOS1AP Cardiac disorders DE_00419 chr9 22123402 22125200 ANRIL Cardiovascular disease DE_00471 chr13 72427002 72428800 DACH1 Cardiovascular disease DE_00422 chr10 64445329 64445644 ADO Celiac disease DE_00528 chr8 11342973 11344973 FAM167A Celiac disease DE_00541 chr10 6074002 6104800 PFKFB3 Celiac disease DE_00569 chr7 128572802 128578000 IRF5 Celiac disease DE_00592 chr20 44739156 44740600 CD40 Celiac disease DE_00614 chr10 6107202 6117600 PFKFB3 Celiac disease DE_00628 chr21 45600202 45618000 ICOSLG Celiac disease DE_01055 chr6 12902202 12905800 EDN1 Cervical artery dissection DE_00783 chrX 107711402 107712600 IRS4 Cervical squamous cell carcinoma and endocervical adenocarcinoma DE_00792 chrX 8640202 8640600 TBL1X Cervical squamous cell carcinoma and endocervical adenocarcinoma DE_00817 chr10 90986602 91006000 LIPA Cervical squamous cell carcinoma and endocervical adenocarcinoma DE_00827 chr4 101083002 101083200 PPP3CA Cervical squamous cell carcinoma and endocervical adenocarcinoma DE_00839 chr6 167395002 167395200 MLLT4 Cervical squamous cell carcinoma and endocervical adenocarcinoma DE_00870 chr2 233154402 233159800 GIGYF2 Cervical squamous cell carcinoma and endocervical adenocarcinoma DE_00884 chr3 15599802 15600000 BTD Cervical squamous cell carcinoma and endocervical adenocarcinoma DE_00907 chr5 1725202 1726000 TERT Cervical squamous cell carcinoma and endocervical adenocarcinoma DE_00918 chr16 84240602 84241000 OSGIN1 Cervical squamous cell carcinoma and endocervical adenocarcinoma DE_00942 chr16 663202 685800 STUB1 Cervical squamous cell carcinoma and endocervical adenocarcinoma DE_00966 chr11 2158202 2159200 KCNQ1 Cervical squamous cell carcinoma and endocervical adenocarcinoma DE_00401 chrX 70441002 70448800 GJB1 Charcot-marie-tooth disease DE_00397 chrX 37639002 37678400 CYBB Chronic granulomatous disease DE_01003 chr8 23750151 23752151 SLC25A37, NKX3-1, ENTPD4, STC1, ADAM7 Chronic kidney disease DE_01004 chr7 1284195 1286195 INTS1, MICALL2 Chronic kidney disease DE_01005 chr12 348298 350298 KDM5A, CCDC77, LOC100288778 Chronic kidney disease DE_01006 chr10 1152202 1158200 C10orf110, WDR37, IDI2, PITRM1, GTPBP4, LARP4B, IDI1, PFKP Chronic kidney disease DE_01007 chr3 187709202 187723000 LPP, BCL6 Chronic kidney disease DE_01009 chr2 113973202 113979800 PRPF40A Chronic kidney disease DE_01011 chr17 59234602 59239400 TBX4, BCAS3, TBX2, NACA2 Chronic kidney disease DE_01012 chr5 39390402 39404000 RICTOR, FYB, TTC33, PRKAA1, RPL37, DAB2 Chronic kidney disease DE_01014 chr19 33355891 33357891 C19orf40, SLC7A10, CEBPG, GPATCH1, TDRD12, SLC7A9, ANKRD27, NUDT19, CCDC123, PDCD5 Chronic kidney disease DE_01016 chr2 27730802 27731200 KRTCAP3, ZNF513, FTHL3P, SNX17, PPM1G, NRBP1, ZNF512, CCDC121, SLC4A1AP, SUPT7L, AGBL5, SLC30A3, GPN1, MPV17, GCKR, IFT172, FNDC4, GTF3C2, EIF2B4, RBKS, BRE, C2orf16, UCN Chronic kidney disease DE_01017 chr3 66798602 66803400 LRIG1 Chronic kidney disease DE_01018 chr4 77405402 77414000 CCNI, SCARB2, STBD1, CCNG2, NUP54, SHROOM3, CXCL10, SDAD1, CXCL9 Chronic kidney disease DE_01019 chr2 73865402 73870200 CCDC142, SLC4A5, CCT7, STAMBP, FBXO41, ACTG2, NAT8B, DUSP11, NAT8, ALMS1, TPRKB, DGUOK, TET3, BOLA3, DCTN1, TTC31, MOBKL1B Chronic kidney disease DE_01020 chr3 169147602 169151400 MECOM, MYNN, ARPM1 Chronic kidney disease DE_01021 chr4 77367202 77372600 CCNI, NUP54, STBD1, SDAD1, CXCL10, CCNG2, SCARB2, SHROOM3, CXCL9 Chronic kidney disease DE_01022 chr15 53942854 53943115 ONECUT1 Chronic kidney disease DE_01024 chr6 127435202 127439600 TRMT11, ECHDC1, HINT3, C6orf173, RNF146 Chronic kidney disease DE_01025 chr1 155187002 155196600 SCAMP3, RUSC1, FAM189B, ADAR, LENEP, GBA, FLAD1, CLK2, ZBTB7B, FDPS, MUC1, C1orf104, MIR555, ADAM15, HCN3, YY1AP1, PKLR, DAP3, DPM3, EFNA1, RAG1AP1, THBS3, KRTCAP2, TRIM46, CKS1B, EFNA3, LOC645676, ASH1L, MSTO1, GBAP, EFNA4, PBXIP1, PMVK, MTX1, PYGO2, SHC1 Chronic kidney disease DE_01026 chr6 160668002 160670400 SOD2, SLC22A2, SLC22A1 Chronic kidney disease DE_01028 chr15 45640225 45642225 SHF, SPATA5L1, MIR147B, C15orf21, SLC30A4, SQRDL, SLC28A2, GATM, SORD Chronic kidney disease DE_01029 chr1 150947602 150955600 MUC1, C1orf54, THBS3, PSMB4, GBA, GBAP, APH1A, CTSS, ANP32E, ECM1, C1orf51, NBPF10, CA14, LYSMD1, CTSK, ARNT, SETDB1, LASS2, ANXA9, GOLPH3L, PRUNE, C1orf56, CDC42SE1, MLLT11, MRPS21, PRPF3, RPRD2, TARS2, VPS72, ADAMTSL4, MCL1, ENSA, SEMA6C, SCNM1, GABPB2, PIP5K1A, FAM63A, PSMD4 Chronic kidney disease DE_01030 chr4 88958922 88960922 HERC5, PIGY, ABCG2, PPM1K, SPARCL1, HERC6, PKD2 Chronic kidney disease DE_01032 chr3 141804402 141808800 RASA2, ATP1B3, TFDP2, XRN1, RNF7, GK5, ATR Chronic kidney disease DE_01034 chr4 9994182 9996182 DRD5, WDR1, SLC2A9 Chronic kidney disease DE_01035 chr9 71433707 71435707 FAM122A, FXN Chronic kidney disease DE_01036 chr11 64460802 64466200 RPS6KA4, SF1, SLC22A11, SNX15, MAP4K2, PYGM, MEN1, NRXN2, RASGRP2, EHD1, ZFPL1, ATG2A, ARL2, TRMT112 Chronic kidney disease DE_01038 chr20 57468002 57486800 PPP4R1L, ATP5E, NPEPL1, STX16, RAB22A, GNAS, VAPB, AURKA, SLMO2, TH1L, CTSZ Chronic kidney disease DE_01041 chr13 72346202 72348200 C13orf34, DACH1 Chronic kidney disease DE_01042 chr5 176815002 176818400 NSD1, MXD3, LMAN2, RAB24, PRELID1, GRK6, PRR7, RGS14, F12, DOK3, DDX41, FAM193B, UIMC1, FGFR4, SLC34A1, TMED9, B4GALT7, PDLIM7, DBN1 Chronic kidney disease DE_01043 chr7 77415439 77417439 RSBN1L, TMEM60, PTPN12, PION, PHTF2 Chronic kidney disease DE_01044 chr12 112006202 112009400 BRAP, ACAD10, ATXN2, C12orf47, ERP29, ALDH2, MAPKAPK5, FAM109A, SH2B3, TRAFD1 Chronic kidney disease DE_01046 chr18 43186130 43188130 SLC14A2, SLC14A1 Chronic kidney disease DE_01047 chr7 151356402 151421000 NUB1, RHEB, PRKAG2 Chronic kidney disease DE_01049 chr6 43805602 43811600 POLH, MRPS18A, VEGFA, MAD2L1BP, RSPH9, GTPBP2, CAPN11, ZNF318, MRPL14, TMEM63B, XPO5, HSP90AB1, NFKBIE, TMEM151B, CDC5L, SLC29A1, DLK2, TJAP1 Chronic kidney disease DE_01050 chr16 79643802 79647400 MAF Chronic kidney disease DE_01051 chr20 23608802 23618600 NXT1, CST1, GZF1, NAPB, CST3, CST2, CST5, ENTPD6, PYGB, CST8, CST4, SSTR4, THBD Chronic kidney disease DE_01057 chr6 154985664 154987664 CNKSR3, RBM16, TFB1M Chronic kidney disease DE_01058 chr17 59453602 59460200 BCAS3, TBX2, TBX4 Chronic kidney disease DE_00579 chr15 40379202 40400400 BMF Chronic lymphocytic leukemia DE_00480 chr4 145487334 145489334 HHIP Chronic obstructive pulmonary disease DE_00601 chr4 145486934 145488934 HHIP Chronic obstructive pulmonary disease DE_00004 chr17 26132301 26139107 NOS2 Classic hodgkin lymphoma DE_00369 chr7 26135202 26143600 NOS2 Classic hodgkin lymphoma DE_00132 chr1 209987802 209994800 IRF6 Cleft lip DE_00511 chr17 54772238 54774238 NOG Cleft lip DE_00597 chr1 209987802 209994800 IRF6 Cleft palate DE_00639 chr9 100548402 100549800 FOXE1 Cleft palate DE_00012 chr13 27523026 27725680 USP12 Colorectal cancer DE_00133 chr12 110717411 110719411 SERCA2B Colorectal cancer DE_00185 chr1 59249452 59251452 JUN Colorectal cancer DE_00186 chr1 59250097 59252097 JUN Colorectal cancer DE_00307 chr3 37034602 37040200 MLH1, DCLK3 Colorectal cancer DE_00376 chr8 128398602 128417000 MYC, POU5F1B, CARLo-5 Colorectal cancer DE_00379 chr8 128750402 128756400 MYC Colorectal cancer DE_00505 chr12 12002002 12021600 ETV6 Colorectal cancer DE_00559 chr14 54409602 54411000 BMP4 Colorectal cancer DE_00586 chr18 46440202 46475000 SMAD7 Colorectal cancer DE_00608 chr8 128423792 128425792 POU5F1B Colorectal cancer DE_00620 chr9 6364683 6366683 TPD52L3, TMED6, JMJD2C Colorectal cancer DE_00668 chr16 68807602 68838400 JMJD2C, TMED6 Colorectal cancer DE_00794 chrX 8640202 8640600 TBL1X Colorectal cancer DE_00832 chr4 101083002 101083200 PPP3CA Colorectal cancer DE_00855 chr17 15879602 15880800 NCOR1 Colorectal cancer DE_00922 chr16 84240602 84241000 OSGIN1 Colorectal cancer DE_00957 chr8 139804402 139806200 FAM135B Colorectal cancer DE_00961 chr11 2158202 2159200 KCNQ1 Colorectal cancer DE_00479 chr5 177421802 177423000 PROP1 Combined pituitary hormone deficiency DE_00043 chr10 64201343 64202560 EGR2 Congenital amyelinating neuropathy DE_00413 chr9 22123402 22125200 CDKN2A, MTAP, CDKN2B-AS1, CDKN2B Coronary artery disease DE_00414 chr9 22071264 22073264 CDKN2A Coronary artery disease DE_00415 chr9 22075795 22077795 CDKN2A Coronary artery disease DE_00416 chr9 22096002 22099600 CDKN2A Coronary artery disease DE_00417 chr9 22101602 22110600 CDKN2A Coronary artery disease DE_00466 chr9 22110602 22120000 CDKN2A, ANRIL Coronary artery disease DE_00555 chr6 161142608 161144608 PLG Coronary artery disease DE_00563 chr3 12381802 12388800 PPARG Coronary artery disease DE_00578 chr9 22093330 22095330 CDKN2A Coronary artery disease DE_00619 chr1 241012202 241013200 CDKN2A Coronary artery disease DE_00662 chr9 22072402 22073600 CDKN2A Coronary artery disease DE_01053 chr6 12902202 12905800 EDN1 Coronary artery disease DE_00418 chr9 22123402 22125200 CDKN2A, CDKN2B Coronary heart disease DE_00444 chr6 134213002 134221400 TCF21 Coronary heart disease DE_00459 chr1 109793202 109825400 SORT1 Coronary heart disease DE_00057 chr10 89621988 89623988 PTEN Cowden disease DE_00058 chr10 89622392 89624392 PTEN Cowden disease DE_00059 chr10 89622462 89624462 PTEN Cowden disease DE_00257 chr2 219965238 219974238 IHH Craniosynostosis DE_00424 chr10 64445329 64445644 ADO Crohn disease DE_00487 chr15 67360202 67451200 SMAD3 Crohn disease DE_00529 chr8 11342973 11344973 FAM167A Crohn disease DE_00545 chr10 6074002 6104800 PFKFB3 Crohn disease DE_00570 chr7 128572802 128578000 IRF5 Crohn disease DE_00589 chr20 44739156 44740600 CD40 Crohn disease DE_00615 chr10 6107202 6117600 PFKFB3 Crohn disease DE_00630 chr21 45600202 45618000 ICOSLG Crohn disease DE_01039 chr10 6074002 6104800 IL2RA Crohns disease DE_00495 chr3 136800938 136802938 NCK1 Diabetic nephropathy DE_00515 chr14 105232802 105261000 AKT1 Endometrial cancer DE_00489 chr9 22110602 22120000 ANRIL Endometriosis DE_00010 chr13 73930023 74004878 KLF5 Esophageal carcinoma DE_00011 chr13 73928807 73948316 KLF5 Esophageal carcinoma DE_00013 chr13 73984215 74005603 KLF5 Esophageal carcinoma DE_00014 chr13 73905173 73913222 KLF5 Esophageal carcinoma DE_00311 chr4 185568801 185570801 CASP3 Esophageal carcinoma DE_00655 chr12 54360202 54361000 HOTAIR Esophageal carcinoma DE_00645 chr10 64736575 64738575 EGR2 Ewing sarcoma DE_00151 chr13 113759602 113760800 F7 Factor vii deficiency DE_00490 chr6 31534802 31548600 TNF Falciparum malaria DE_00473 chr2 60691402 60718400 BCL11A Fetal hemoglobin level DE_00625 chr2 60719002 60776000 BCL11A Fetal hemoglobin level DE_01056 chr6 12902202 12905800 EDN1 Fibromuscular dysplasia DE_00386 chr9 104183202 104211400 ALDOB Fructose intolerance DE_00500 chr5 175086002 175127800 HRH2 Gastric cancer DE_00534 chr6 28233802 28234600 BTN3A2 Gastric cancer DE_00535 chr6 28234176 28236176 BTN3A2 Gastric cancer DE_00798 chrX 8640202 8640600 TBL1X Glioblastoma multiforme DE_00844 chr6 167395002 167395200 MLLT4 Glioblastoma multiforme DE_00868 chr2 233154402 233159800 GIGYF2 Glioblastoma multiforme DE_00900 chrX 128374202 128374800 SMARCA1 Glioblastoma multiforme DE_00912 chr5 1725202 1726000 TERT Glioblastoma multiforme DE_00946 chr16 663202 685800 STUB1 Glioblastoma multiforme DE_00974 chr11 2158202 2159200 KCNQ1 Glioblastoma multiforme DE_00979 chr11 16759202 16759800 INSC Glioblastoma multiforme DE_00990 chrX 23575002 23575800 PTCHD1 Glioblastoma multiforme DE_00026 chr6 163964037 164018687 MYB Glioma DE_00581 chr8 130639002 130649000 MYC Glioma DE_00091 chr1 160000799 160002799 PIGM Glycosylphosphatidylinositol deficiency DE_00393 chrX 138611889 138613889 F9 Haemophilia DE_00394 chrX 154251002 154251200 F8 Haemophilia DE_00197 chr17 32559802 32586800 CCL2 HCV-related liver disease DE_00016 chr13 73905435 73944915 KLF5 Head and neck squamous cell carcinoma DE_00019 chr13 73972794 74005015 KLF5 Head and neck squamous cell carcinoma DE_00795 chrX 8640202 8640600 TBL1X Head and Neck squamous cell carcinoma DE_00819 chr10 90986602 91006000 LIPA Head and Neck squamous cell carcinoma DE_00833 chr4 101083002 101083200 PPP3CA Head and Neck squamous cell carcinoma DE_00842 chr6 167395002 167395200 MLLT4 Head and Neck squamous cell carcinoma DE_00859 chr17 15879602 15880800 NCOR1 Head and Neck squamous cell carcinoma DE_00873 chr2 233154402 233159800 GIGYF2 Head and Neck squamous cell carcinoma DE_00885 chr3 15599802 15600000 BTD Head and Neck squamous cell carcinoma DE_00914 chr16 84240602 84241000 OSGIN1 Head and Neck squamous cell carcinoma DE_00935 chrX 105549002 105550400 TSC22D3 Head and Neck squamous cell carcinoma DE_00667 chr17 64299802 64307800 PRKCA Heart disease DE_00665 chr5 110175802 110176800 TSLP Heart failure DE_00474 chr2 60691402 60718400 BCL11A Hemoglobinopathies DE_00017 chr20 48986349 49063548 PARD6B Hepatocellular carcinoma DE_00246 chr20 47895202 47912200 ZFAS1 Hepatocellular carcinoma DE_00558 chr18 56081002 56086000 miR-122 Hepatocellular carcinoma DE_00604 chr2 112752602 112753600 MERTK Hepatocellular carcinoma DE_00089 chr11 5266002 5277400 HBG1, HBG2 Hereditary persistence of foetal haemoglobin DE_00312 chr4 74300817 74302817 AFP Hereditary persistence of foetal haemoglobin DE_00002 chr10 43581812 43582711 RET Hirschsprung disease DE_00039 chr10 43580812 43583711 RET Hirschsprung disease DE_00264 chr22 38379602 38445800 SOX10 Hirschsprung disease DE_00513 chr10 43581056 43583056 RET Hirschsprung disease DE_00516 chr10 43446602 43448600 RET Hirschsprung disease DE_00609 chr10 43551895 43553895 RET Hirschsprung disease DE_00580 chr3 46409402 46417600 CCR5 Hiv DE_00025 chr7 101129817 101130058 SHH Holoprosencephaly spectrum DE_00135 chr12 114703515 114705515 TBX5 Holt-oram syndrome DE_00188 chr16 56994402 56997400 CETP Hyperalphalipoproteinaemia DE_00259 chr2 224465344 224467344 SCG2 Hypertension DE_00501 chr11 2184202 2187600 Pgl3 Hypertension DE_00651 chr3 27548402 27550000 SLC4A7 Hypertension DE_01052 chr6 12902202 12905800 EDN1 Hypertension DE_00027 chrx 857558 858158 SHOX Idiopathic short stature DE_00443 chr1 192534107 192536107 RGS1 IgA nephropathy DE_00134 chr12 114703515 114705515 TBX5 Isolated congenital heart defect DE_00033 chr10 23507363 23509363 PTF1A Isolated pancreatic agenesis DE_00037 chr10 23507446 23509446 PTF1A Isolated pancreatic agenesis DE_00887 chr3 15599802 15600000 BTD Kidney  cancer DE_00898 chrX 128374202 128374800 SMARCA1 Kidney  cancer DE_00906 chr5 1725202 1726000 TERT Kidney  cancer DE_00936 chrX 105549002 105550400 TSC22D3 Kidney  cancer DE_00958 chr8 139804402 139806200 FAM135B Kidney  cancer DE_00640 chr9 89720602 89726000 DAPK1 Late onset alzheimers disease DE_00463 chr6 31523802 31532000 LTA Leprosy DE_00657 chr6 163211578 163213578 PARK2 Leprosy DE_00658 chr6 163211465 163213465 PARK2 Leprosy DE_00028 chrx 857558 858158 SHOX Leri-weill syndrome DE_00020 chr5 134769599 134772144 PITX1 Liebenberg syndrome DE_00024 chr7 156583562 156584711 SHH Limb malformation DE_00367 chr7 156583402 156584600 SHH Limb malformation DE_00372 chr7 96357368 96357928 DLX6, DLX5 Limb malformation DE_00790 chrX 8640202 8640600 TBL1X Liver cancer DE_00808 chr6 151193402 151207200 MTHFD1L Liver cancer DE_00814 chr10 90986602 91006000 LIPA Liver cancer DE_00830 chr4 101083002 101083200 PPP3CA Liver cancer DE_00840 chr6 167395002 167395200 MLLT4 Liver cancer DE_00848 chr17 15879602 15880800 NCOR1 Liver cancer DE_00867 chr2 233154402 233159800 GIGYF2 Liver cancer DE_00883 chr3 15599802 15600000 BTD Liver cancer DE_00893 chrX 128374202 128374800 SMARCA1 Liver cancer DE_00903 chr5 1725202 1726000 TERT Liver cancer DE_00924 chr16 84240602 84241000 OSGIN1 Liver cancer DE_00930 chrX 105549002 105550400 TSC22D3 Liver cancer DE_00943 chr16 663202 685800 STUB1 Liver cancer DE_00956 chr8 139804402 139806200 FAM135B Liver cancer DE_00967 chr11 2158202 2159200 KCNQ1 Liver cancer DE_00799 chrX 8640202 8640600 TBL1X Lower Grade Glioma DE_00845 chr6 167395002 167395200 MLLT4 Lower Grade Glioma DE_00869 chr2 233154402 233159800 GIGYF2 Lower Grade Glioma DE_00901 chrX 128374202 128374800 SMARCA1 Lower Grade Glioma DE_00913 chr5 1725202 1726000 TERT Lower Grade Glioma DE_00947 chr16 663202 685800 STUB1 Lower Grade Glioma DE_00975 chr11 2158202 2159200 KCNQ1 Lower Grade Glioma DE_00980 chr11 16759202 16759800 INSC Lower Grade Glioma DE_00991 chrX 23575002 23575800 PTCHD1 Lower Grade Glioma DE_00788 chrX 8640202 8640600 TBL1X Lung adenocarcinoma DE_00809 chr6 151193402 151207200 MTHFD1L Lung adenocarcinoma DE_00818 chr10 90986602 91006000 LIPA Lung adenocarcinoma DE_00826 chr4 101083002 101083200 PPP3CA Lung adenocarcinoma DE_00854 chr17 15879602 15880800 NCOR1 Lung adenocarcinoma DE_00874 chr2 233154402 233159800 GIGYF2 Lung adenocarcinoma DE_00894 chrX 128374202 128374800 SMARCA1 Lung adenocarcinoma DE_00905 chr5 1725202 1726000 TERT Lung adenocarcinoma DE_00954 chr8 139804402 139806200 FAM135B Lung adenocarcinoma DE_00973 chr11 2158202 2159200 KCNQ1 Lung adenocarcinoma DE_00988 chrX 23575002 23575800 PTCHD1 Lung adenocarcinoma DE_00018 chr8 129168000 129190017 MYC Lung cancer DE_00078 chr1 115299152 115301153 NRAS Lung cancer DE_00079 chr1 115299224 115301225 NRAS Lung cancer DE_00154 chr13 47127005 47129006 RB1 Lung cancer DE_00157 chr13 48668002 48668200 RB1 Lung cancer DE_00158 chr13 48669202 48669600 RB1 Lung cancer DE_00159 chr13 49057802 49083400 RB1 Lung cancer DE_00160 chr13 50655563 50657564 RB1 Lung cancer DE_00228 chr17 6918802 6938800 TP53 Lung cancer DE_00229 chr17 6938213 6940214 TP53 Lung cancer DE_00235 chr17 8021402 8024200 TP53 Lung cancer DE_00236 chr17 8025793 8027794 TP53 Lung cancer DE_00286 chr3 179168002 179170003 PIK3CA Lung cancer DE_00287 chr3 179168300 179170301 PIK3CA Lung cancer DE_00288 chr3 179169402 179173800 PIK3CA Lung cancer DE_00359 chr7 115953802 115959400 MET Lung cancer DE_00360 chr7 115990202 115999400 MET Lung cancer DE_00361 chr7 116311444 116313445 MET Lung cancer DE_00362 chr7 116311573 116313574 MET Lung cancer DE_00363 chr7 116313202 116315800 MET Lung cancer DE_00364 chr7 116905202 116912200 MET Lung cancer DE_00365 chr7 139691202 139698800 BRAF Lung cancer DE_00366 chr7 140845002 140846200 BRAF Lung cancer DE_00370 chr7 55088002 55103400 EGFR Lung cancer DE_00371 chr7 55322402 55323200 EGFR Lung cancer DE_00373 chr8 117777802 117778800 RAD21 Lung cancer DE_00374 chr8 118741002 118750800 RAD21 Lung cancer DE_00524 chr5 1285516 1287516 TERT Lung cancer DE_00537 chr5 1286194 1288194 TERT Lung cancer DE_00546 chr6 31887602 31889600 HLA-DRB1, HLA-C, HLA-DRB5, HLA-DQB1 Lung cancer DE_00632 chr6 72091202 72127800 mir30a Lung cancer DE_00664 chr1 1098342 1100342 miR-200b Lung cancer DE_00760 chr21 10815330 10817330 TPTE Lung cancer DE_00761 chr21 10813330 10815330 TPTE Lung cancer DE_00762 chr21 10832730 10834730 TPTE Lung cancer DE_00763 chr21 10851130 10853130 TPTE Lung cancer DE_00764 chr21 10818930 10820930 TPTE Lung cancer DE_00765 chr21 10795130 10797130 TPTE Lung cancer DE_00766 chr21 10849330 10851330 TPTE Lung cancer DE_00767 chr21 10843930 10845930 TPTE Lung cancer DE_00768 chr21 10779730 10781730 TPTE Lung cancer DE_00769 chr21 10830530 10832530 TPTE Lung cancer DE_00770 chr5 142781608 142783608 NR3C1 Lung cancer DE_00771 chr5 141228417 141230417 NR3C1 Lung cancer DE_00772 chr1 156468777 156470777 TTC24 Lung cancer DE_00773 chr1 156559977 156561977 TTC24 Lung cancer DE_00774 chr1 156645520 156645790 TTC24 Lung cancer DE_00775 chr19 45953361 45955361 PPM1N Lung cancer DE_00776 chr19 45953761 45955761 PPM1N Lung cancer DE_00777 chr19 45392761 45394761 PPM1N Lung cancer DE_00778 chr19 45942780 45943010 PPM1N Lung cancer DE_00779 chr19 45347961 45349961 PPM1N Lung cancer DE_00780 chr19 45811525 45811675 PPM1N Lung cancer DE_00781 chrX 107711402 107712600 IRS4 Lung squamous cell carcinoma DE_00791 chrX 8640202 8640600 TBL1X Lung squamous cell carcinoma DE_00806 chr6 151193402 151207200 MTHFD1L Lung squamous cell carcinoma DE_00815 chr10 90986602 91006000 LIPA Lung squamous cell carcinoma DE_00831 chr4 101083002 101083200 PPP3CA Lung squamous cell carcinoma DE_00846 chr6 167395002 167395200 MLLT4 Lung squamous cell carcinoma DE_00853 chr17 15879602 15880800 NCOR1 Lung squamous cell carcinoma DE_00871 chr2 233154402 233159800 GIGYF2 Lung squamous cell carcinoma DE_00886 chr3 15599802 15600000 BTD Lung squamous cell carcinoma DE_00897 chrX 128374202 128374800 SMARCA1 Lung squamous cell carcinoma DE_00909 chr5 1725202 1726000 TERT Lung squamous cell carcinoma DE_00925 chr16 84240602 84241000 OSGIN1 Lung squamous cell carcinoma DE_00949 chr16 663202 685800 STUB1 Lung squamous cell carcinoma DE_00969 chr11 2158202 2159200 KCNQ1 Lung squamous cell carcinoma DE_00989 chrX 23575002 23575800 PTCHD1 Lung squamous cell carcinoma DE_00425 chr10 64445329 64445644 ADO Lupus DE_00526 chr8 11342973 11344973 FAM167A Lupus DE_00544 chr10 6074002 6104800 PFKFB3 Lupus DE_00565 chr7 128572802 128578000 IRF5 Lupus DE_00591 chr20 44739156 44740600 CD40 Lupus DE_00611 chr10 6107202 6117600 PFKFB3 Lupus DE_00631 chr21 45600202 45618000 ICOSLG Lupus DE_00349 chr6 159518202 159522400 TAGAP Lymphocyte-mediated immune disorders DE_00350 chr6 159523668 159523966 TAGAP Lymphocyte-mediated immune disorders DE_00351 chr6 159524402 159532000 TAGAP Lymphocyte-mediated immune disorders DE_00352 chr6 159534002 159544800 TAGAP Lymphocyte-mediated immune disorders DE_00353 chr6 159546202 159549800 TAGAP Lymphocyte-mediated immune disorders DE_00354 chr6 159551602 159553000 TAGAP Lymphocyte-mediated immune disorders DE_00355 chr6 159556002 159556400 TAGAP Lymphocyte-mediated immune disorders DE_00356 chr6 159500834 159556753 TAGAP Lymphocyte-mediated immune disorders DE_00644 chr20 42564802 42573200 TOX2 Major depressive disorder DE_00130 chr1 206941402 206947400 IL10 Malarial anaemia DE_00041 chr10 54526602 54537800 MBL2 Mannose-binding protein deficiency DE_00022 chr9 134250000 134270000 GFI1 Medulloblastoma DE_00023 chr9 135460000 135540961 GFI1 Medulloblastoma DE_00446 chr6 86245709 86247709 SNHG5 Melanoma DE_00447 chr6 86222316 86224316 SNHG5 Melanoma DE_00449 chr6 86257614 86259614 SNHG5 Melanoma DE_00599 chr6 86223053 86225053 SNHG5 Melanoma DE_00606 chr6 86205202 86205800 SNHG5 Melanoma DE_00660 chr6 86246799 86248799 SNHG5 Melanoma DE_01054 chr6 12902202 12905800 EDN1 Migraine headache DE_00268 chr3 128197802 128206200 GATA2 Monomac syndrome DE_00560 chr7 21937202 21939600 CDCA7L Multiple myeloma DE_00652 chr22 39539602 39548000 CBX7 Multiple myeloma DE_01045 chr5 95251002 95284000 ELL2 Multiple myeloma DE_00409 chr12 9872202 9876800 CLECL1 Multiple sclerosis DE_00421 chr10 64445329 64445644 ADO Multiple sclerosis DE_00429 chr12 58163402 58165600 TSPAN31, CYP27B1, TSFM, AVIL, FAM119B Multiple sclerosis DE_00438 chr1 93009202 93009400 GFI1 Multiple sclerosis DE_00454 chr12 58132402 58138400 CYP27B1 Multiple sclerosis DE_00461 chr17 37910411 37959400 IKZF3 Multiple sclerosis DE_00467 chr1 117095802 117109400 CD58 Multiple sclerosis DE_00492 chr12 6420402 6449200 TNFRSF1A Multiple sclerosis DE_00512 chr14 75986202 76011400 BATF Multiple sclerosis DE_00519 chr5 158759002 158761200 IL12B Multiple sclerosis DE_00527 chr8 11342973 11344973 FAM167A Multiple sclerosis DE_00540 chr10 6074002 6104800 IL2RA, PFKFB3 Multiple sclerosis DE_00557 chr3 121791947 121797400 CD86 Multiple sclerosis DE_00567 chr7 128572802 128578000 IRF5 Multiple sclerosis DE_00574 chr14 69236402 69258800 ZFP36L1 Multiple sclerosis DE_00588 chr20 44739156 44740600 CD40 Multiple sclerosis DE_00610 chr10 6107202 6117600 IL2RA, PFKFB3 Multiple sclerosis DE_00624 chr2 68643202 68648400 PLEK Multiple sclerosis DE_00629 chr21 45600202 45618000 ICOSLG Multiple sclerosis DE_00649 chr19 10515339 10521200 TYK2, ICAM3 Multiple sclerosis DE_00666 chr17 40504602 40508200 STAT3 Multiple sclerosis DE_01048 chr16 11440602 11455000 CLEC16A Multiple sclerosis DE_00253 chr2 175626602 175632200 chrNA1 Myasthenia gravis DE_00240 chr1 94374309 94376309 GCLM Myocardial infarction DE_00656 chr6 12902202 12905800 PHACTR1 Myocardial infarction DE_00533 chr9 136535633 136537633 SARDH Neural tube defects DE_00322 chr5 1310402 1340200 TERT Neuroblastoma DE_00323 chr5 1340202 1344600 TERT Neuroblastoma DE_00324 chr5 1344602 1345400 TERT Neuroblastoma DE_00502 chr11 8249002 8257600 LMO1 Neuroblastoma DE_00439 chr14 29999405 30001405 FOXG1 Neuropsychiatric disorders DE_00126 chr11 73694402 73696200 UCP2 Obesity DE_00472 chr16 53799602 53801200 IRX5, IRX3 Obesity DE_00496 chr19 51772802 51774802 KLK14, SYT3, LRRC4B, IGLON5 Obesity DE_00669 chr16 53829465 53831465 IRX3 Obesity DE_00196 chr17 28563402 28564400 SLC6A4 Obsessive-compulsive disorder DE_00488 chr7 117255202 117258200 CFTR Oesophagus and oesophageal adenocarcinoma DE_00484 chr15 32991002 32994400 GREM1 Orofacial clefting DE_00596 chr1 209987802 209994800 IRF6 Orofacial clefting DE_00239 chr19 41367602 41372400 EGLN2 Ovarian cancer DE_00785 chrX 8640202 8640600 TBL1X Ovarian serous cystadenocarcinoma DE_00803 chr6 151193402 151207200 MTHFD1L Ovarian serous cystadenocarcinoma DE_00812 chr10 90986602 91006000 LIPA Ovarian serous cystadenocarcinoma DE_00821 chr4 101083002 101083200 PPP3CA Ovarian serous cystadenocarcinoma DE_00834 chr6 167395002 167395200 MLLT4 Ovarian serous cystadenocarcinoma DE_00851 chr17 15879602 15880800 NCOR1 Ovarian serous cystadenocarcinoma DE_00863 chr2 233154402 233159800 GIGYF2 Ovarian serous cystadenocarcinoma DE_00876 chr3 15599802 15600000 BTD Ovarian serous cystadenocarcinoma DE_00890 chrX 128374202 128374800 SMARCA1 Ovarian serous cystadenocarcinoma DE_00910 chr5 1725202 1726000 TERT Ovarian serous cystadenocarcinoma DE_00915 chr16 84240602 84241000 OSGIN1 Ovarian serous cystadenocarcinoma DE_00928 chrX 105549002 105550400 TSC22D3 Ovarian serous cystadenocarcinoma DE_00940 chr16 663202 685800 STUB1 Ovarian serous cystadenocarcinoma DE_00950 chr8 139804402 139806200 FAM135B Ovarian serous cystadenocarcinoma DE_00962 chr11 2158202 2159200 KCNQ1 Ovarian serous cystadenocarcinoma DE_00987 chrX 23575002 23575800 PTCHD1 Ovarian serous cystadenocarcinoma DE_00793 chrX 8640202 8640600 TBL1X Pancreatic adenocarcinoma DE_00804 chr6 151193402 151207200 MTHFD1L Pancreatic adenocarcinoma DE_00829 chr4 101083002 101083200 PPP3CA Pancreatic adenocarcinoma DE_00031 chr10 23507305 23509305 PTF1A Pancreatic agenesis DE_00032 chr10 23507363 23509363 PTF1A Pancreatic agenesis DE_00034 chr10 23507365 23509365 PTF1A Pancreatic agenesis DE_00035 chr10 23507437 23509437 PTF1A Pancreatic agenesis DE_00036 chr10 23507446 23509446 PTF1A Pancreatic agenesis DE_00357 chr6 74596274 74597932 CDKN2B Pancreatic cancer DE_00553 chr13 73925602 73926000 DIS3 Pancreatic cancer DE_00576 chr18 45433802 45447600 SMAD2 Pancreatic cancer DE_00594 chr20 56942402 56943200 RAB22A Pancreatic cancer DE_00636 chr7 6511002 6522600 KDELR2 Pancreatic cancer DE_00325 chr5 147211002 147213600 SPINK1 Pancreatitis DE_00420 chr9 100556802 100557800 FOXE1, PTCSC2 Papillary thyroid cancer DE_00453 chr9 100551602 100552200 FOXE1, PTCSC2 Papillary thyroid cancer DE_00641 chr9 100548402 100549800 FOXE1, PTCSC2 Papillary thyroid cancer DE_00663 chr9 100554802 100556800 FOXE1, PTCSC2 Papillary thyroid cancer DE_00523 chr5 1285516 1287516 TERT Papillary thyroid carcinoma DE_00549 chr4 90672602 90676200 SNCA Parkinson disease DE_00358 chr7 107300201 107302201 SLC26A4 Pendred syndrome DE_00435 chr2 113586802 113594400 IL-1B Periodontal diseases DE_00491 chr2 113536602 113543000 IL-1A Periodontal diseases DE_00671 chr21 40274002 40306000 ETS2 Periodontal diseases DE_00850 chr17 15879602 15880800 NCOR1 Pheochromocytoma and Paraganglioma DE_00952 chr8 139804402 139806200 FAM135B Pheochromocytoma and Paraganglioma DE_00968 chr11 2158202 2159200 KCNQ1 Pheochromocytoma and Paraganglioma DE_00986 chrX 23575002 23575800 PTCHD1 Pheochromocytoma and Paraganglioma DE_00223 chr17 68675303 68677303 SOX9 Pierre robin sequence DE_00224 chr17 68697977 68699977 SOX9 Pierre robin sequence DE_00225 chr17 68734530 68736530 SOX9 Pierre robin sequence DE_00226 chr17 68746322 68748322 SOX9 Pierre robin sequence DE_00227 chr17 68771750 68773750 SOX9 Pierre robin sequence DE_00230 chr17 69705602 69706600 SOX9 Pierre robin sequence DE_00030 chr10 127505002 127508800 UROS Porphyria DE_00076 chr11 118947402 118955800 HMBS Porphyria DE_00070 chr1 105934 107935 SHH Preaxial polydactyly 2 DE_00180 chr14 60973449 60975449 SIX6 Primary open-angle glaucoma DE_00994 chr14 60973427 60975430 SIX6 Primary open-angle glaucoma DE_00392 chr9 21974127 21976127 CDKN2A Primary sclerosing cholangitis DE_00084 chr11 35439976 35441976 SLC1A2 Progressing stroke DE_00810 chr6 151193402 151207200 MTHFD1L Prostate adenocarcinoma DE_00811 chr10 90986602 91006000 LIPA Prostate adenocarcinoma DE_00825 chr4 101083002 101083200 PPP3CA Prostate adenocarcinoma DE_00838 chr6 167395002 167395200 MLLT4 Prostate adenocarcinoma DE_00857 chr17 15879602 15880800 NCOR1 Prostate adenocarcinoma DE_00865 chr2 233154402 233159800 GIGYF2 Prostate adenocarcinoma DE_00882 chr3 15599802 15600000 BTD Prostate adenocarcinoma DE_00896 chrX 128374202 128374800 SMARCA1 Prostate adenocarcinoma DE_00921 chr16 84240602 84241000 OSGIN1 Prostate adenocarcinoma DE_00933 chrX 105549002 105550400 TSC22D3 Prostate adenocarcinoma DE_00948 chr16 663202 685800 STUB1 Prostate adenocarcinoma DE_00951 chr8 139804402 139806200 FAM135B Prostate adenocarcinoma DE_00972 chr11 2158202 2159200 KCNQ1 Prostate adenocarcinoma DE_00040 chr10 51548496 51550496 MSMB, AGAP7P Prostate cancer DE_00183 chr15 54202002 54203000 BCL2, PYGO1 Prostate cancer DE_00184 chr15 54203002 54203600 BCL2, PYGO1 Prostate cancer DE_00375 chr8 127888002 127892000 FAM84B Prostate cancer DE_00377 chr8 128398602 128417000 MYC, CARLo-5 Prostate cancer DE_00378 chr8 128653265 128655265 MYC Prostate cancer DE_00380 chr8 129105383 129107383 PVT1 Prostate cancer DE_00381 chr8 129977038 129979038 GSDMC Prostate cancer DE_00399 chrx 45297055 45299055 CXorf36 Prostate cancer DE_00405 chr8 128010402 128012400 MYC Prostate cancer DE_00406 chr8 128531137 128533137 MYC Prostate cancer DE_00407 chr8 128092002 128094200 MYC Prostate cancer DE_00410 chr7 27975402 27976600 JAZF1 Prostate cancer DE_00427 chr2 85767202 85783400 CAPG Prostate cancer DE_00431 chr6 42927461 42929461 PEX6 Prostate cancer DE_00441 chr8 128530689 128532689 MYC Prostate cancer DE_00442 chr8 128530873 128532873 MYC Prostate cancer DE_00457 chr8 127923659 127925659 MYC Prostate cancer DE_00464 chr8 128094202 128096000 MYC Prostate cancer DE_00468 chr2 20879202 20882600 C2orf43 Prostate cancer DE_00475 chr2 85760002 85765239 CAPG Prostate cancer DE_00476 chr8 128484202 128486200 MYC Prostate cancer DE_00481 chr8 128123126 128125126 MYC Prostate cancer DE_00483 chr8 128123916 128125916 MYC Prostate cancer DE_00493 chr17 69107655 69109655 SOX9 Prostate cancer DE_00494 chr17 69107753 69109753 SOX9 Prostate cancer DE_00518 chr13 50944202 50945400 ARLTS1 Prostate cancer DE_00522 chr17 5519002 5520600 PTEN Prostate cancer DE_00531 chr22 45673802 45678800 UPK3A Prostate cancer DE_00547 chr6 117209052 117211052 RFX6 Prostate cancer DE_00550 chr8 128322819 128324819 PVT1 Prostate cancer DE_00562 chr10 51540002 51545000 AGAP7P Prostate cancer DE_00575 chrX 51504931 51506931 NUDT11 Prostate cancer DE_00587 chr20 10016002 10016600 ANKEF1 Prostate cancer DE_00595 chr8 128334673 128336673 MYC Prostate cancer DE_00607 chr8 128105880 128107880 MYC Prostate cancer DE_00622 chr8 128102602 128104800 PCAT1 Prostate cancer DE_00638 chr8 128538360 128540360 MYC Prostate cancer DE_00647 chr17 69107202 69108400 SOX9 Prostate cancer DE_00499 chr2 171688802 171690800 GAD1 Psychiatric diseases DE_00506 chr2 171677379 171679379 GAD1 Psychiatric diseases DE_00517 chr5 141013402 141015200 DIAPH1 Psychiatric diseases DE_00090 chr1 155270202 155271800 PKLR Pyruvate kinase deficiency DE_00616 chr11 69238741 69240741 CCND1 Renal cancer DE_00617 chr12 26469002 26473600 BHLHE41 Renal cancer DE_00274 chr11 69249002 69254400 CCND1 Renal cancer DE_00643 chr11 69233802 69236800 CCND1 Renal cancer DE_00426 chr10 64445329 64445644 ADO Rheumatoid arthritis DE_00530 chr8 11342973 11344973 FAM167A Rheumatoid arthritis DE_00543 chr10 6074002 6104800 PFKFB3 Rheumatoid arthritis DE_00566 chr7 128572802 128578000 IRF5 Rheumatoid arthritis DE_00590 chr20 44739156 44740600 CD40 Rheumatoid arthritis DE_00612 chr10 6107202 6117600 PFKFB3 Rheumatoid arthritis DE_00627 chr21 45600202 45618000 ICOSLG Rheumatoid arthritis DE_00653 chr2 30439602 30453600 LBH Rheumatoid arthritis DE_01023 chr20 7105289 7107289 BMP2 Sagittal nonsyndromic craniosynostosis DE_00782 chrX 107711402 107712600 IRS4 Sarcoma DE_00786 chrX 8640202 8640600 TBL1X Sarcoma DE_00802 chr6 151193402 151207200 MTHFD1L Sarcoma DE_00813 chr10 90986602 91006000 LIPA Sarcoma DE_00822 chr4 101083002 101083200 PPP3CA Sarcoma DE_00835 chr6 167395002 167395200 MLLT4 Sarcoma DE_00849 chr17 15879602 15880800 NCOR1 Sarcoma DE_00861 chr2 233154402 233159800 GIGYF2 Sarcoma DE_00881 chr3 15599802 15600000 BTD Sarcoma DE_00889 chrX 128374202 128374800 SMARCA1 Sarcoma DE_00904 chr5 1725202 1726000 TERT Sarcoma DE_00923 chr16 84240602 84241000 OSGIN1 Sarcoma DE_00929 chrX 105549002 105550400 TSC22D3 Sarcoma DE_00941 chr16 663202 685800 STUB1 Sarcoma DE_00964 chr11 2158202 2159200 KCNQ1 Sarcoma DE_00977 chr11 16759202 16759800 INSC Sarcoma DE_00983 chrX 23575002 23575800 PTCHD1 Sarcoma DE_00237 chr19 13046602 13049400 CALR Schizoaffective disorder DE_00077 chr11 124608907 124610907 NRGN Schizophrenia DE_00238 chr19 13046602 13049400 CALR Schizophrenia DE_00242 chr1 98514539 98516539 MIR137, MIR2682 Schizophrenia DE_00266 chr3 115376646 115378646 GAP43 Schizophrenia DE_00267 chr3 119814602 119822600 GSK3B Schizophrenia DE_00384 chr8 31494581 31496581 NRG1 Schizophrenia DE_00440 chr1 98494802 98502600 RP11 490G2.2 Schizophrenia DE_00452 chr12 2339802 2367400 CACNA1C Schizophrenia DE_00455 chr19 19430963 19432963 HAPLN4 Schizophrenia DE_00456 chr3 52741002 52747400 GNL3 Schizophrenia DE_00462 chr3 52804202 52804600 SPCS1 Schizophrenia DE_00507 chr3 52817802 52819800 NEK4 Schizophrenia DE_00539 chr1 243633202 243642000 SDCCAG8 Schizophrenia DE_00548 chr2 200779737 200781737 TYW5 Schizophrenia DE_00583 chr10 104652545 104654545 NT5C2 Schizophrenia DE_00621 chr19 19432802 19440800 GATAD2A Schizophrenia DE_00635 chr2 233742002 233760600 NGEF Schizophrenia DE_00400 chrX 55056617 55058617 ALAS2 Sideroblastic anaemia DE_00080 chr11 1996802 2023400 H19 Silver-russell syndrome DE_00797 chrX 8640202 8640600 TBL1X Skin Cutaneous Melanoma DE_00807 chr6 151193402 151207200 MTHFD1L Skin Cutaneous Melanoma DE_00828 chr4 101083002 101083200 PPP3CA Skin Cutaneous Melanoma DE_00843 chr6 167395002 167395200 MLLT4 Skin Cutaneous Melanoma DE_00858 chr17 15879602 15880800 NCOR1 Skin Cutaneous Melanoma DE_00872 chr2 233154402 233159800 GIGYF2 Skin Cutaneous Melanoma DE_00880 chr3 15599802 15600000 BTD Skin Cutaneous Melanoma DE_00895 chrX 128374202 128374800 SMARCA1 Skin Cutaneous Melanoma DE_00908 chr5 1725202 1726000 TERT Skin Cutaneous Melanoma DE_00926 chr16 84240602 84241000 OSGIN1 Skin Cutaneous Melanoma DE_00934 chrX 105549002 105550400 TSC22D3 Skin Cutaneous Melanoma DE_00944 chr16 663202 685800 STUB1 Skin Cutaneous Melanoma DE_00955 chr8 139804402 139806200 FAM135B Skin Cutaneous Melanoma DE_00970 chr11 2158202 2159200 KCNQ1 Skin Cutaneous Melanoma DE_00796 chrX 8640202 8640600 TBL1X Stomach and Esophageal carcinoma DE_00820 chr4 101083002 101083200 PPP3CA Stomach and Esophageal carcinoma DE_00841 chr6 167395002 167395200 MLLT4 Stomach and Esophageal carcinoma DE_00852 chr17 15879602 15880800 NCOR1 Stomach and Esophageal carcinoma DE_00864 chr2 233154402 233159800 GIGYF2 Stomach and Esophageal carcinoma DE_00879 chr3 15599802 15600000 BTD Stomach and Esophageal carcinoma DE_00891 chrX 128374202 128374800 SMARCA1 Stomach and Esophageal carcinoma DE_00917 chr16 84240602 84241000 OSGIN1 Stomach and Esophageal carcinoma DE_00953 chr8 139804402 139806200 FAM135B Stomach and Esophageal carcinoma DE_00963 chr11 2158202 2159200 KCNQ1 Stomach and Esophageal carcinoma DE_00984 chrX 23575002 23575800 PTCHD1 Stomach and Esophageal carcinoma DE_00075 chr11 118890202 118900800 SLC37A4 Sudden infant death syndrome DE_00258 chr2 219965238 219974238 IHH Syndactyly DE_00368 chr7 22760602 22771600 IL6 Systemic lupus erythematosus DE_00436 chr16 31275202 31281400 ITGAM Systemic lupus erythematosus DE_00478 chr6 138229039 138231039 A20 Systemic lupus erythematosus DE_00497 chr6 138229040 138231040 A20 Systemic lupus erythematosus DE_00504 chr6 138190202 138205800 TNFAIP3 Systemic lupus erythematosus DE_00241 chr1 47780992 47782224 TAL1 T cell acute lymphoblastic leukemia DE_00382 chr8 130180065 130180972 MYC T cell acute lymphoblastic leukemia DE_00959 chr11 2158202 2159200 KCNQ1 Testicular Germ Cell Tumors DE_00976 chr11 16759202 16759800 INSC Testicular Germ Cell Tumors DE_00982 chrX 23575002 23575800 PTCHD1 Testicular Germ Cell Tumors DE_00085 chr11 5248002 5248400 HBB Thalassaemia DE_00086 chr11 5247402 5249402 HBB Thalassaemia DE_00087 chr11 5247491 5249491 HBB Thalassaemia DE_00088 chr11 5254802 5256800 HBD Thalassaemia DE_00187 chr16 208709 210709 HBM Thalassaemia DE_00521 chr3 24201602 24205000 THRB The syndrome of resistance to thyroid hormone DE_00038 chr10 27388383 27390383 ANKRD26 Thrombocytopaenia 2 DE_00411 chr1 181019802 181020800 MR1 tuberculosis DE_01031 chr4 26085002 26091000 RBPJ Type-1 diabetes DE_01040 chr10 6074002 6104800 IL2RA Type-1 diabetes DE_00081 chr11 2181419 2183419 INS Type-2 diabetes DE_00139 chr12 121412402 121416200 HNF1A Type-2 diabetes DE_00140 chr12 121416402 121424400 HNF1A Type-2 diabetes DE_00245 chr20 42983276 42985276 HNF4A Type-2 diabetes DE_00434 chr10 12304602 12308600 CAMK1D, CDC123 Type-2 diabetes DE_00451 chr10 114792602 114841400 TCF7L2 Type-2 diabetes DE_00469 chr11 72463802 72492000 STARD10 Type-2 diabetes DE_00470 chr13 72427002 72428800 DACH1 Type-2 diabetes DE_00482 chr11 2845202 2852800 KCNQ1 Type-2 diabetes DE_00552 chr4 6292002 6301400 WFS1 Type-2 diabetes DE_00585 chr6 37775402 37777000 ZFAND3 Type-2 diabetes DE_00598 chr3 185499202 185517400 IGF2BP2 Type-2 diabetes DE_00618 chr15 62390602 62392000 VPS13C Type-2 diabetes DE_00642 chr10 114757349 114759349 TCF7L2 Type-2 diabetes DE_00646 chr16 53814602 53817000 FTO Type-2 diabetes DE_00670 chr16 53829465 53831465 IRX3 Type-2 diabetes DE_01010 chr3 123036602 123074000 ADCY5 Type-2 diabetes DE_00082 chr11 2190002 2193400 TH Tyrosine hydroxylase deficiency DE_00423 chr10 64445329 64445644 ADO Ulcerative colitis DE_00525 chr8 11342973 11344973 FAM167A Ulcerative colitis DE_00542 chr10 6074002 6104800 PFKFB3 Ulcerative colitis DE_00568 chr7 128572802 128578000 IRF5 Ulcerative colitis DE_00593 chr20 44739156 44740600 CD40 Ulcerative colitis DE_00613 chr10 6107202 6117600 PFKFB3 Ulcerative colitis DE_00626 chr21 45600202 45618000 ICOSLG Ulcerative colitis DE_00800 chr6 151193402 151207200 MTHFD1L Uterine Carcinosarcoma DE_00847 chr17 15879602 15880800 NCOR1 Uterine Carcinosarcoma DE_00875 chr3 15599802 15600000 BTD Uterine Carcinosarcoma DE_00888 chrX 128374202 128374800 SMARCA1 Uterine Carcinosarcoma DE_00927 chrX 105549002 105550400 TSC22D3 Uterine Carcinosarcoma DE_00937 chr16 663202 685800 STUB1 Uterine Carcinosarcoma DE_00960 chr11 2158202 2159200 KCNQ1 Uterine Carcinosarcoma DE_00981 chrX 23575002 23575800 PTCHD1 Uterine Carcinosarcoma DE_00015 chr8 129543949 129554294 MYC Uterine Corpus Endometrial Carcinoma DE_00789 chrX 8640202 8640600 TBL1X Uterine Corpus Endometrial Carcinoma DE_00801 chr6 151193402 151207200 MTHFD1L Uterine Corpus Endometrial Carcinoma DE_00824 chr4 101083002 101083200 PPP3CA Uterine Corpus Endometrial Carcinoma DE_00837 chr6 167395002 167395200 MLLT4 Uterine Corpus Endometrial Carcinoma DE_00862 chr2 233154402 233159800 GIGYF2 Uterine Corpus Endometrial Carcinoma DE_00877 chr3 15599802 15600000 BTD Uterine Corpus Endometrial Carcinoma DE_00892 chrX 128374202 128374800 SMARCA1 Uterine Corpus Endometrial Carcinoma DE_00919 chr16 84240602 84241000 OSGIN1 Uterine Corpus Endometrial Carcinoma DE_00931 chrX 105549002 105550400 TSC22D3 Uterine Corpus Endometrial Carcinoma DE_00938 chr16 663202 685800 STUB1 Uterine Corpus Endometrial Carcinoma DE_00965 chr11 2158202 2159200 KCNQ1 Uterine Corpus Endometrial Carcinoma DE_00916 chr16 84240602 84241000 OSGIN1 Uveal Melanoma DE_00256 chr22 19743002 19744600 TBX1 Ventricular septal defect DE_00131 chr1 206941402 206947400 IL10 Wegener granulomatosis DE_00402 chrx 81728473 81728883 POU3F4 X-linked deafness type 3 DE_00403 chrx 81841817 81842227 POU3F4 X-linked deafness type 3