Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
acute myeloid leukemia	MONDO_0018874 MONDO_0044923	ARID1B	Causal	27063598	Open Targets	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		ATM	Causal	37002311 24522528 27460089 27798625 25331116 30013198 27908881 37465589	Open Targets	Platinum drug resistance Homologous recombination NF-kappa B signaling pathway +33 more
		BCOR	Causal	22012066 22237025 24056718 24522528 24923295 25331116 25381062 25381129 25596268 26438511 26728869 26941285 26980726 27276561 27288520 27435003 27470916 27881874 28063196 30013198 31648334 31827512 31942545 33397455 33574648 33618432 33711909 34070172 34778799 35078972 35732498 35805006 37002311 37102976 37853686 38019014 38212634	Open Targets	Polycomb repressive complex
		CALR	Causal	34070172 31882869 37841434 37102976 34040959 25015940	Open Targets	Protein processing in endoplasmic reticulum Phagosome Efferocytosis +14 more
		CBL	Causal	12696071 17446348 17475912 18698078 19276253 20164853 20622007 21436637 24045501 24056718 24147083 25381062 25381129 25412851 25932436 26980726 27276561 27288520 27435003 27798625 27881874 27908881 29253671 29417354 30013198 31145495 31648334 33054115 34070172 34301788 34492730 34778799 35460975 35805006 37002311 37465589 37853686 38212634	Open Targets	ErbB signaling pathway Ubiquitin mediated proteolysis Endocytosis +22 more
		CEBPA	Causal	11242107 11830484 12351377 12661007 12692518 14616999 14726504 15575056 15618961 15645492 15746035 15746041 15756005 15902292 16230371 16453003 16871279 17671232 18173751 18182175 18490517 18587575 18616509 18729193 18752591 18768433 19171880 19525338 19650672 19773259 19953636 20029046 20357826 20439648 20456351 20693432 20884804 20970189 21030981 21399634 21606161 21674360 21967978 22129478 22362118 22389883 22649106 22731647 22786876 22814295 23135354 23325837 23449638 23702683 23716546 23926458 24033149 24054719 24067491 24162792 24441947 24522528 24898826 25014773 25022553 25241285 25258581 25381129 25412851 25652455 26438511 26728869 26941285 27069254 27276561 27288520 27359055 27462774 27470916 27881874 27895058 29253671 30013198 30466750 31086779 31145495 31184605 31648334 31942545 33161783 33574648 33618432 33711909 34070172 34778799 35805006 35986270 37002311 37102976 37305720 38212634	ClinGen, Open Targets	Non-alcoholic fatty liver disease Pathways in cancer Transcriptional misregulation in cancer +3 more
		DNMT3A	Causal	21067377 21399634 21518476 21537334 21685466 21836609 21904384 21967546 21989985 22066015 22077061 22081665 22124213 22237025 22289988 22291079 22362118 22417203 22490330 22642896 22649106 22688855 22722750 22744846 22749068 22855599 22875620 22976956 23031157 23135354 23193409 23305405 23395771 23632886 23702683 23753029 23765227 23832012 23946816 24036946 24056718 24067491 24337413 24512939 24514424 24522528 24606448 24898826 24923295 24994606 25022553 25381062 25381129 25412851 25652455 25858894 25932436 26438511 26728869 27029036 27063598 27276561 27288520 27359055 27435003 27458708 27881874 27908881 29950729 30013198 30334576 30355724 30396184 31145495 31149783 31232041 31648334 31827512 31942545 33054115 33283233 33292606 33397455 33618432 33711909 34070172 34492730 34617422 34778799 35078972 35460975 35485701 35805006 35846058 35986270 36185232 36444394 37002311 37102976 37465589 37853686 38212634 38986489	Open Targets	Cysteine and methionine metabolism Metabolic pathways Efferocytosis +3 more
		ELF4	Causal	34778799	Open Targets	—
		ETV6	Causal	11442509 11568911 12161353 15229617 15642392 17476096 21233837 21350831 22237025 22976956 24056718 26438511 26941285 27069254 27276561 27288520 27895058 28485070 28600339 29273914 29795382 30466750 31648334 34070172 34301788 34778799 35805006 37002311 38212634 9949179	Open Targets	Transcriptional misregulation in cancer Signaling by membrane-tethered fusions of PDGFRA or PDGFRB
		FLT3	Causal	10049058 10233379 10573574 10691863 10764154 10803532 11091200 11133746 11290608 11319806 11369655 11442493 11468194 11535508 11585760 11756186 12060632 12070009 12115363 12139726 12200684 12239146 12239147 12357354 12384447 12393381 12393388 12399960 12406902 12468427 12468438 12481903 12492581 12522450 12529667 12529668 12551822 12681969 12692518 12692519 12702504 12707374 12750701 12759922 12780793 12801839 12930316 12969963 12973844 14500589 14504097 14554237 14562119 14574326 14604973 14671635 14726504 14737077 14977832 14984498 15036894 15059064 15120929 15142116 15234579 15251987 15269297 15329487 15343344 15345593 15459012 15510198 15543237 15588866 15618961 15625552 15710585 15735660 15746035 15756005 15863200 15889156 15902284 15955231 15976757 15996732 16029447 16029448 16038735 16049512 16076872 16105978 16150941 16184177 16213360 16230371 16234360 16239911 16270043 16281935 16291592 16330434 16368883 16371029 16410449 16417920 16418499 16424869 16573742 16598313 16619048 16619525 16627249 16642044 16757411 16787503 16790588 16791266 16857985 16868253 16902153 16912228 16920565 16932337 16932350 16982329 16990784 16990788 17036374 17041096 17056111 17064989 17119119 17128418 17151698 17169806 17233551 17315018 17330105 17454189 17475912 17485551 17498302 17550866 17597811 17598835 17606455 17650443 17768124 17940205 17957027 17960171 18068628 18081718 18160671 18184863 18192111 18230792 18256686 18305215 18336585 18337557 18373709 18383555 18394702 18398841 18477048 18483393 18490517 18536654 18573526 18596743 18621416 18664261 18668134 18726096 18755984 18820131 18925699 18955790 18977345 19020547 19036083 19042917 19052976 19052993 19074904 19109227 19144660 19158829 19176010 19181793 19194200 19225113 19279329 19330068 19369962 19389879 19451432 19458628 19470730 19491417 19536888 19557552 19562748 19603346 19626050 19626541 19635202 19637342 19643984 19657110 19665070 19667402 19672946 19698218 19700852 19714594 19752345 19773259 19775300 19776406 19824900 19840437 19847200 19865112 19921191 19943049 19995225 20001230 20007803 20023256 20029046 20053758 20056794 20066533 20133893 20140864 20148885 20212254 20233657 20354824 20357826 20360144 20387067 20400977 20404136 20425795 20435347 20442365 20489055 20505189 20513120 20515557 20525753 20546020 20548095 20634376 20652568 20670134 20693296 20693432 20732714 20733134 20803351 20855646 20861459 20861915 20872983 20875128 20875872 20924583 20938465 20944672 20966504 20971820 20979630 20981678 21030981 21041716 21042320 21048955 21067377 21113141 21120161 21133602 21146872 21156248 21176335 21176961 21324374 21325596 21332708 21338238 21340720 21350831 21387358 21389317 21399634 21461300 21482694 21518476 21520003 21523727 21523728 21537333 21538063 21555683 21577323 21596848 21606167 21621842 21628411 21647152 21647154 21659357 21665178 21674859 21685466 21685470 21696826 21717102 21744003 21745004 21747880 21760593 21784052 21791474 21798259 21812014 21813447 21816375 21818844 21836609 21859732 21860418 21967978 21986840 21989985 21993673 22040963 22052552 22053959 22084373 22094584 22096250 22099191 22104247 22112974 22129478 22132874 22197676 22208491 22209839 22220250 22231465 22237025 22280537 22291086 22331798 22338050 22354205 22362118 22368270 22374696 22378655 22378848 22389883 22407852 22425908 22431577 22458420 22469781 22475129 22481022 22504184 22532519 22562027 22568493 22585616 22591177 22605576 22627678 22642896 22658276 22659680 22674490 22676581 22677130 22684224 22686329 22688855 22691121 22715121 22722750 22734072 22736495 22742960 22749068 22766221 22786876 22864397 22906848 22911473 22929312 22966913 22976956 22987078 23074281 23135354 23167384 23257420 23355940 23392356 23395771 23417030 23430109 23508011 23538898 23613521 23613835 23667841 23702683 23753029 23816818 23878140 23936694 23969938 24036946 24054719 24105326 24109526 24378360 24402164 24522528 24523240 24565682 24619500 24666762 24689895 24703772 24881741 24898826 24981688 24994606 25022553 25066867 25115510 25258581 25299584 25331116 25379410 25381062 25381129 25400345 25412851 25436161 25547655 25652455 25847190 25858894 25932436 26438511 26728869 26883104 26886259 26941285 26980726 27063598 27276561 27288520 27346558 27359055 27435003 27460089 27462774 27470916 27520294 27626069 27735988 27798625 27908881 29253671 29795382 29950729 30013198 31086779 31145495 31149783 31184605 31232041 31827512 31942545 32170661 32308588 32584418 32628327 3304292 33042924 33054115 33099879 33161783 33494808 33574648 33618432 33711909 33914060 34070172 34301788 34617422 34660293 34778799 35078972 35485701 35805006 35844705 35846058 36444394 36542496 37002311 37102976 37305720 37853686 37866827 38204493 38212634 8946930 9305596 9324277	Open Targets	MAPK signaling pathway Ras signaling pathway PI3K-Akt signaling pathway +8 more
		FOXP1	Causal	22237025 24056718 25381062	Open Targets	MicroRNAs in cancer Transcriptional regulation of pluripotent stem cells
		GATA2	Causal	21399634 21892158 21892162 22649106 22786876 22814295 22976956 24033149 24036946 24371770 25241285 25331116 25381062 26438511 26728869 26941285 26980726 27276561 27288520 27418648 27881874 29253671 29417354 30013198 31648334 33618432 34778799 35460975 35805006 37002311 37102976 38212634	Open Targets	RUNX1 regulates transcription of genes involved in differentiation of HSCs Factors involved in megakaryocyte development and platelet production
		IDH1	Causal	19657110 20097881 20142433 20368538 20368543 20376086 20538800 20567020 20625116 20651067 20678218 20693432 20805365 20861910 20944672 20946881 20955413 20962861 21067377 21173122 21316759 21539821 21647152 21647154 21867611 21989985 21997850 22071137 22124213 22215888 22237025 22362118 22397365 22431577 22494415 22520341 22658276 22781800 22814295 22906848 22976956 23039322 23074281 23135354 23257422 23613835 23702683 23755812 24036946 24098815 24402164 24443894 24522528 24606448 24859829 25022553 25324972 25381129 25412851 25599133 25652455 25987093 26438511 26728869 26980726 27029036 27276561 27288520 27359055 27435003 27458708 27460089 27520294 27735988 27881874 27908881 29950729 30013198 30355724 31145495 31149783 31184605 31475115 31632056 31648334 31942545 32166993 32380538 33292606 33574648 33586600 33618432 34070172 34301788 34617422 34778799 34946913 35460975 35732498 35805006 35986270 36724515 37002311 37102976 37853686 38204493 38212634	Open Targets	Citrate cycle (TCA cycle) Glutathione metabolism Metabolic pathways +9 more
		JAK2	Causal	22422826 22829971 17972958 16710304 16204151 26728869 19824900 16408098 23210734 16598306 16037387 19194467 26980726 22041374 18165278 27276561 27288520 17229652 19458628 17443220 31086779 19799086 29253671 37102976 18200037 18048969 18555525 18805579 23153540 23187294 18528646 16434499 38212634 20153505 27029036 33161783 17401398 38204493 19176031 17043013 17707884 19181784 37002311 24402164 16247455 16598312 16034466 19773259 26941285 16081687 21537334 27359055 32782768 33618432 26883104 16804112 16929538 18755984 19865112 21120162 31184605 34070172 21283084 16868251 17581610 17643100 19603346 37794441 25022553 18594780 18503828 25381129 24056718 30013198 18972067 27458708 24036946 35805006	Open Targets	EGFR tyrosine kinase inhibitor resistance Chemokine signaling pathway Hormone signaling +51 more
		KIT	Causal	10554798 10660321 12111653 12702504 15339674 15618474 15621809 15650049 15725473 15902284 16015387 16049512 16254134 16291592 16921041 16956837 17581610 17960171 18224418 18385756 18483300 18755984 18977345 18986703 19176031 19181784 19369623 19383925 19458628 19603346 19644024 19698218 20387067 20400977 20435347 20551067 20693432 20806365 20861915 20890793 21429396 21504297 21606963 21715005 22109829 22145956 22338050 22425908 22658276 22825855 22886749 22976956 23053179 23107788 23149070 23613835 24033149 24402164 24522528 25381062 25932436 26438511 26728869 26941285 26980726 27063598 27139612 27252013 27276561 27288520 27359055 27460089 27470916 27798625 27881874 29253671 29795382 33099879 33618432 34070172 34301788 34778799 35805006 35986270 37002311 37102976 38212634 9657776 9714703	Open Targets	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +15 more
		KRAS	Causal	1433344 1574246 15842656 1585764 15902284 1598607 16404744 16573741 17960171 18483300 19018267 19075190 19773259 19833857 1991170 2012756 20861915 21606962 2183888 22169769 22507781 22642896 22649106 22658276 22923764 22976956 23135354 23702683 24033149 24036946 24056718 24105326 24402164 24737308 25022553 25066867 25331116 25381062 25381129 2564452 25652455 25962120 2668844 26728869 2684256 26883104 26941285 26980726 27063598 27276561 27288520 27435003 27458708 27460089 27470916 27798625 27881874 29253671 29795382 30013198 31145495 31232041 32782768 33054115 33618432 34070172 34301788 34778799 35078972 35805006 37002311 37305720 38019014 38212634 7934145 8123851 8289473 8541548 8955068 9379676 9523205	Open Targets	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
		MYC	Causal	37002311 37305720 27798625 29795382 27626069 22976956 27276561 38212634 34778799	Open Targets	MAPK signaling pathway ErbB signaling pathway Cell cycle +45 more
		NF1	Causal	20505189 27276561 34778799 37102976 34301788 38212634 37002311 27798625 35986270 31648334 22015770 33618432 25381062 26883104 27063598 34070172 25331116 22976956 22237025 25381129 24056718 23460398	Open Targets	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +2 more
		NPM1	Causal	15659725 15870172 15994285 16046528 16051734 16076867 16079892 16109776 16244291 16455956 16501600 16540685 16645213 16678898 16720834 16791266 16871279 17151698 17301808 17306368 17361227 17410190 17440048 17504301 17581610 17597811 17598835 17639390 17768124 18081718 18180033 18192111 18200037 18403605 18403613 18477048 18556765 18596743 18641025 18664261 18726096 18801061 19100523 19181793 19365794 19369962 19484332 19557552 19587375 19593743 19643984 19657110 19737150 19773259 19854508 20026798 20029046 20360144 20404136 20442365 20616361 20652568 20693432 20855646 20979630 21042320 21067377 21120161 21146872 21233837 21245599 21338238 21555683 21596848 21606167 21621842 21647154 21665178 21685466 21707751 21717102 21760593 21812014 21860418 21933280 21967978 21986839 21986840 21989985 22035378 22099964 22104247 22129478 22231465 22237025 22338050 22362118 22370328 22374696 22389883 22417203 22425908 22431577 22469781 22481022 22585616 22642896 22658276 22677130 22688855 22691121 22736495 22749068 22786876 22814295 22906848 22911473 22929312 22966913 22987078 23135354 23392356 23395771 23613835 23702683 23753029 23998253 24036946 24054719 24337413 24385775 24413856 24413869 24497565 24512939 24514424 24522528 24523240 24666762 24689895 24703772 24764728 24867525 24898826 24994606 25022553 25213837 25258581 25299584 25381129 25400345 25412851 25552914 25652455 25987093 26438511 26728869 26941285 27029036 27276561 27288520 27346558 27359055 27460089 27535106 27881874 27908881 29253671 29417354 29549983 30013198 31145495 31149783 31232041 31827512 31942545 33020650 33099879 33400143 33494808 33586600 33618432 33711909 34070172 34132463 34301788 34492730 34617422 34778799 34946913 35078972 35485701 35805006 35844705 35846058 35986270 36444394 37002311 37102976 37465589 37794441 37853686 37866827 38212634 38986489	Open Targets	Nuclear import of Rev protein SUMOylation of transcription cofactors Deposition of new CENPA-containing nucleosomes at the centromere +2 more
		NRAS	Causal	10214865 10374400 10704678 11843295 12068308 1433344 14737077 14982869 15180860 15329487 1544704 1574246 15756005 15842656 1585764 1598607 16404744 16424869 16573741 1683380 17043013 17960171 18483300 18701506 19075190 1921453 19369623 19657110 19773259 2012756 20220775 20233657 20400977 20693432 20861915 21030981 21325596 21399634 21798259 2183888 2197591 21989985 2200539 22038701 22122069 22234698 22338050 22507781 22642896 22658276 22786876 22814295 22976956 23135354 23153540 23484688 23515407 23613835 23667841 23702683 23856246 24033149 24045501 24056718 24067491 24402164 24522528 24523240 24737308 24898826 24931631 25022553 25066867 25204082 25331116 25381062 25381129 25412851 2564452 25652455 25858894 25962120 26438511 2657575 2668844 26728869 2683276 2684256 26883104 26941285 26980726 27063598 27276561 27288520 27359055 27435003 27458708 27460089 27470916 27798625 27881874 28481359 29253671 29795382 2989702 30013198 30396184 31145495 31184605 31648334 31942545 32782768 33020650 33292606 33574648 33618432 33711909 34070172 34301788 34492730 34778799 35078972 35805006 35986270 36185232 37002311 37102976 37305720 37841434 37853686 38019014 38212634 7485115 7497445 7500652 7564469 7693050 7803279 7871950 7918071 7927179 7934163 8057669 8123851 8124213 8199018 8217795 8289473 8445953 8514604 8528106 8541548 8547609 9156660 9379676 9680114 9865432	Open Targets	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +130 more
		NSD1	Causal	15942875 21399634 22976956 23153540 23592277 26438511 26941285 29795382 34778799	Open Targets	Lysine degradation Metabolic pathways PKMTs methylate histone lysines
		POT1	Causal	34343137 25962120 22976956	Open Targets	Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Packaging Of Telomere Ends +2 more
		SF3B1	Causal	21909114 22323480 22431577 23280334 23395771 25331116 25381062 25412851 26438511 26728869 26812887 27063598 27276561 27288520 27881874 31145495 31648334 33054115 33574648 33618432 34070172 35078972 35805006 37002311 37102976 38204493	Open Targets	Spliceosome B-WICH complex positively regulates rRNA expression mRNA Splicing - Major Pathway +1 more
		SRSF2	Causal	22323480 22431577 23648668 24056718 24923295 25412851 25487075 26438511 26728869 26812887 26980726 27029036 27135740 27276561 27288520 27435003 27881874 29417354 30013198 30396184 31145495 31648334 31942545 32782768 33054115 33099879 33618432 33711909 34070172 34492730 35805006 36672788 37102976	Open Targets	Spliceosome Herpes simplex virus 1 infection Transport of Mature mRNA derived from an Intron-Containing Transcript +4 more
		TERT	Causal	22285015 22965356 23926458 27069254 27881370 27895058 28297620 28600339 30466750 33618432	Open Targets	Human papillomavirus infection Human T-cell leukemia virus 1 infection Pathways in cancer +4 more
		TP53	Causal	12060632 1390233 15921389 16059649 20404136 2040694 22976956 23153540 23210734 23702683 24056718 24402164 24831771 25022553 25213837 25331116 25412851 25652455 26438511 26728869 27029036 27063598 27276561 27288520 27458708 27460089 27881874 27959731 31145495 31648334 31827512 33020650 33618432 34070172 34132463 34778799 35078972 35732498 35805006 37002311 37102976 38212634 7654857 8037181 8217795 8551805 8824725	Open Targets	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more

Acute myeloid leukemia

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