Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
acute myeloid leukemia	MONDO_0018874 MONDO_0044923	POLE	Unknown	30013198 24056718 27063598 22976956	Open Targets	DNA replication Base excision repair Nucleotide excision repair +10 more
		POLQ	Unknown	25962120 34778799	Open Targets	HDR through MMEJ (alt-NHEJ)
		POLR2A	Unknown	22237025	Open Targets	RNA polymerase Nucleotide excision repair Huntington disease +25 more
		PPFIBP1	Unknown	34778799	Open Targets	Receptor-type tyrosine-protein phosphatases
		PRDM1	Unknown	34778799	Open Targets	Regulation of TP53 Expression
		PRDM16	Unknown	22237025	Open Targets	Lysine degradation Metabolic pathways Thermogenesis +1 more
		PRDM2	Unknown	22976956	Open Targets	Lysine degradation Metabolic pathways
		PREX2	Unknown	22237025 26883104	Open Targets	Regulation of PTEN stability and activity
		PRKACA	Unknown	25962120	Open Targets	Endocrine resistance MAPK signaling pathway Ras signaling pathway +95 more
		PRKAR1A	Unknown	34778799	Open Targets	Insulin signaling pathway PKA activation PKA activation in glucagon signalling +7 more
		PRKD1	Unknown	26941285 22237025	Open Targets	Rap1 signaling pathway Aldosterone synthesis and secretion Chemical carcinogenesis - reactive oxygen species +1 more
		PRPF40B	Unknown	27276561 34070172	Open Targets	Spliceosome
		PRRX1	Unknown	22237025	Open Targets	—
		PSIP1	Unknown	34778799	Open Targets	Viral life cycle - HIV-1 Integration of provirus 2-LTR circle formation +4 more
		PTCH1	Unknown	34778799	Open Targets	cAMP signaling pathway Hedgehog signaling pathway Axon guidance +7 more
		PTEN	Unknown	27276561 22237025 27288520 10966170 24831771	Open Targets	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +37 more
		PTPN11	Unknown	12717436 14644997 14982869 15009076 15385933 15604238 15667533 15749679 15755284 15834506 15842656 15951301 16115145 16358218 16424869 16518851 17972951 19773259 20693432 22658276 23702683 24036946 24056718 24771269 25022553 25331116 25381062 25381129 25962120 26438511 26728869 26941285 26980726 27276561 27288520 27359055 27435003 27460089 27462774 27798625 27881874 29253671 30396184 31145495 31184605 31232041 33020650 33574648 33618432 33711909 34301788 34778799 35078972 35805006 36444394 37002311 37102976 38025540 38212634 38986489	Open Targets	Ras signaling pathway Phospholipase D signaling pathway Efferocytosis +56 more
		PTPN13	Unknown	22237025 27997762 34778799	Open Targets	Apoptosis Synthesis of PIPs at the plasma membrane Interleukin-37 signaling
		PTPRB	Unknown	27798625	Open Targets	Adherens junction Neutrophil degranulation
		PTPRD	Unknown	22237025	Open Targets	Cell adhesion molecules Receptor-type tyrosine-protein phosphatases Synaptic adhesion-like molecules
		PTPRK	Unknown	22237025	Open Targets	EGFR downregulation
		PTPRT	Unknown	24493670 29253671 26941285 26886259 29795382 22237025 27288520 26438511 27063598	Open Targets	—
		PWWP2A	Unknown	26941285	Open Targets	—
		RAD21	Unknown	22976956 23955599 24056718 24335498 26438511 26728869 26980726 27276561 27288520 27470916 27798625 27881874 28063196 33618432 34070172 34301788 34778799 35805006 37002311 37102976 37853686 38212634	Open Targets	Cell cycle Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion +4 more
		RAD51B	Unknown	22237025	Open Targets	Homologous recombination HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) +4 more
		RANBP2	Unknown	20428197 35986270 21399634	Open Targets	Nucleocytoplasmic transport Viral life cycle - HIV-1 Amyotrophic lateral sclerosis +32 more
		RAP1B	Unknown	22237025	Open Targets	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +25 more
		RAP1GDS1	Unknown	34778799	Open Targets	—
		RARA	Unknown	24673420 23936694 1314166 7682097 23355940 23589792 25052141 15899384 15359634 8380300 26299742 18665825 17934255 17415815 12399960 1720570 21350831 29795382 26728337 12899711 20544846 12508246 27063598 17454588 23627671 26823883 24981688	Open Targets	Th17 cell differentiation Estrogen signaling pathway Pathways in cancer +6 more
		RB1	Unknown	37002311 27276561 23153540	Open Targets	Endocrine resistance Cell cycle Cellular senescence +30 more
		RET	Unknown	25962120 27460089	Open Targets	MAPK signaling pathway Calcium signaling pathway PI3K-Akt signaling pathway +6 more
		RGS7	Unknown	22237025 24056718	Open Targets	G alpha (i) signalling events Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
		RHOA	Unknown	25962120	Open Targets	Ras signaling pathway Rap1 signaling pathway cGMP-PKG signaling pathway +64 more
		RICTOR	Unknown	29795382	Open Targets	mTOR signaling pathway PIP3 activates AKT signaling CD28 dependent PI3K/Akt signaling +3 more
		RMI2	Unknown	15327527	Open Targets	Fanconi anemia pathway HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) +7 more
		RNF213	Unknown	29253671 26438511	Open Targets	Suppression of apoptosis Antigen processing: Ubiquitination & Proteasome degradation
		ROBO2	Unknown	29253671 22237025	Open Targets	Axon guidance Signaling by ROBO receptors Regulation of commissural axon pathfinding by SLIT and ROBO
		ROCK1	Unknown	26886259	Open Targets	cGMP-PKG signaling pathway cAMP signaling pathway Chemokine signaling pathway +25 more
		ROS1	Unknown	30013198	Open Targets	—
		RPL22	Unknown	34778799	Open Targets	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPL5	Unknown	25962120	Open Targets	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RUNX1T1	Unknown	7507193 27352183 18224418 11331327 11753612 26299742 7514242 26802623 16393685 18665825 27139612 9250799 17415815 18206543 21738341 20430445 12760263 16254134 24402164 8499624 8353289 9885986 9619731 20417866 7630188 7828132 11033733 17883173 22811791 22094584 15988144 7522291 15571802 16956837 8148423 8402610 1391946	Open Targets	Pathways in cancer Transcriptional misregulation in cancer Acute myeloid leukemia
		RXRA	Unknown	35986270	Open Targets	PPAR signaling pathway Efferocytosis PI3K-Akt signaling pathway +39 more
		SALL4	Unknown	29795382 22976956 34778799	Open Targets	POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation Transcriptional regulation of pluripotent stem cells Regulation of PTEN gene transcription
		SEPTIN5	Unknown	9600980	Open Targets	Parkinson disease Pathways of neurodegeneration - multiple diseases
		SEPTIN6	Unknown	11477664 16843108 18492691 14506700	Open Targets	Bacterial invasion of epithelial cells Shigellosis
		SEPTIN9	Unknown	21846973 12095151 20113838 18642054 10485469	Open Targets	Bacterial invasion of epithelial cells Shigellosis
		SET	Unknown	17296573 24449214 19166587	Open Targets	Condensation of Prophase Chromosomes HuR (ELAVL1) binds and stabilizes mRNA
		SETBP1	Unknown	23628959 25412851 37002311 34070172 26728869 31942545 23648668 25962120 37102976 29549983 31145495 23832012 22237025 27288520 35805006 23889083 32782768 33161783 27881874 34778799	Open Targets	—
		SETD1B	Unknown	29795382 30013198 26438511	Open Targets	Lysine degradation Metabolic pathways PKMTs methylate histone lysines +1 more

Acute myeloid leukemia

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