

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | retinal cone cell development (GO:0046549) | 8.17229641 |
| 2 | detection of light stimulus involved in sensory perception (GO:0050962) | 6.95187399 |
| 3 | detection of light stimulus involved in visual perception (GO:0050908) | 6.95187399 |
| 4 | nuclear pore complex assembly (GO:0051292) | 6.41502323 |
| 5 | photoreceptor cell maintenance (GO:0045494) | 6.33078551 |
| 6 | photoreceptor cell development (GO:0042461) | 6.18625120 |
| 7 | eye photoreceptor cell development (GO:0042462) | 6.02646580 |
| 8 | phototransduction, visible light (GO:0007603) | 5.84406801 |
| 9 | detection of visible light (GO:0009584) | 5.70461158 |
| 10 | phototransduction (GO:0007602) | 5.65975219 |
| 11 | detection of light stimulus (GO:0009583) | 5.60132965 |
| 12 | positive regulation of guanylate cyclase activity (GO:0031284) | 5.57604684 |
| 13 | GMP metabolic process (GO:0046037) | 5.45905441 |
| 14 | eye photoreceptor cell differentiation (GO:0001754) | 5.17802169 |
| 15 | photoreceptor cell differentiation (GO:0046530) | 5.17802169 |
| 16 | retinal rod cell development (GO:0046548) | 5.13904582 |
| 17 | regulation of guanylate cyclase activity (GO:0031282) | 5.07423622 |
| 18 | cellular response to light stimulus (GO:0071482) | 4.85950636 |
| 19 | regulation of attachment of spindle microtubules to kinetochore (GO:0051988) | 4.73519541 |
| 20 | pore complex assembly (GO:0046931) | 4.72364029 |
| 21 | visual perception (GO:0007601) | 4.61307513 |
| 22 | sensory perception of light stimulus (GO:0050953) | 4.61126370 |
| 23 | sister chromatid segregation (GO:0000819) | 4.55409436 |
| 24 | mitotic sister chromatid segregation (GO:0000070) | 4.38530474 |
| 25 | protein-chromophore linkage (GO:0018298) | 4.37359617 |
| 26 | kinetochore organization (GO:0051383) | 4.36941076 |
| 27 | mitotic chromosome condensation (GO:0007076) | 4.28568343 |
| 28 | protein localization to kinetochore (GO:0034501) | 4.19681945 |
| 29 | retina development in camera-type eye (GO:0060041) | 4.11227142 |
| 30 | regulation of centriole replication (GO:0046599) | 4.05256827 |
| 31 | protein localization to chromosome, centromeric region (GO:0071459) | 4.01430287 |
| 32 | regulation of cGMP metabolic process (GO:0030823) | 3.99862558 |
| 33 | DNA unwinding involved in DNA replication (GO:0006268) | 3.85833276 |
| 34 | detection of external stimulus (GO:0009581) | 3.76167456 |
| 35 | DNA packaging (GO:0006323) | 3.74192822 |
| 36 | regulation of sister chromatid cohesion (GO:0007063) | 3.73736286 |
| 37 | regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091 | 3.73323801 |
| 38 | detection of abiotic stimulus (GO:0009582) | 3.70802178 |
| 39 | regulation of centrosome cycle (GO:0046605) | 3.65364421 |
| 40 | kinetochore assembly (GO:0051382) | 3.65135702 |
| 41 | nuclear envelope disassembly (GO:0051081) | 3.65125447 |
| 42 | membrane disassembly (GO:0030397) | 3.65125447 |
| 43 | attachment of spindle microtubules to kinetochore (GO:0008608) | 3.65084970 |
| 44 | DNA replication-dependent nucleosome organization (GO:0034723) | 3.55967390 |
| 45 | DNA replication-dependent nucleosome assembly (GO:0006335) | 3.55967390 |
| 46 | positive regulation of chromosome segregation (GO:0051984) | 3.52779435 |
| 47 | hemidesmosome assembly (GO:0031581) | 3.52603494 |
| 48 | regulation of spindle organization (GO:0090224) | 3.51719658 |
| 49 | cellular response to radiation (GO:0071478) | 3.50022982 |
| 50 | regulation of mitotic spindle organization (GO:0060236) | 3.49914132 |
| 51 | regulation of chromosome segregation (GO:0051983) | 3.47243316 |
| 52 | cytoskeleton-dependent cytokinesis (GO:0061640) | 3.45572987 |
| 53 | mitotic metaphase plate congression (GO:0007080) | 3.43550588 |
| 54 | positive regulation of cell cycle checkpoint (GO:1901978) | 3.39640771 |
| 55 | CENP-A containing nucleosome assembly (GO:0034080) | 3.36206759 |
| 56 | DNA duplex unwinding (GO:0032508) | 3.30217192 |
| 57 | DNA conformation change (GO:0071103) | 3.29104542 |
| 58 | chromatin remodeling at centromere (GO:0031055) | 3.27777403 |
| 59 | positive regulation of cGMP metabolic process (GO:0030825) | 3.27304196 |
| 60 | spindle assembly involved in mitosis (GO:0090307) | 3.26956157 |
| 61 | protoporphyrinogen IX metabolic process (GO:0046501) | 3.26829727 |
| 62 | positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101) | 3.25614447 |
| 63 | positive regulation of mitotic sister chromatid separation (GO:1901970) | 3.25614447 |
| 64 | positive regulation of mitotic metaphase/anaphase transition (GO:0045842) | 3.25614447 |
| 65 | mitotic spindle organization (GO:0007052) | 3.23497045 |
| 66 | spindle checkpoint (GO:0031577) | 3.23353488 |
| 67 | regulation of centrosome duplication (GO:0010824) | 3.23300577 |
| 68 | spindle assembly checkpoint (GO:0071173) | 3.22773808 |
| 69 | metaphase plate congression (GO:0051310) | 3.21187568 |
| 70 | DNA geometric change (GO:0032392) | 3.19400226 |
| 71 | spindle organization (GO:0007051) | 3.16557271 |
| 72 | negative regulation of mitotic metaphase/anaphase transition (GO:0045841) | 3.15416953 |
| 73 | negative regulation of sister chromatid segregation (GO:0033046) | 3.15416953 |
| 74 | negative regulation of mitotic sister chromatid separation (GO:2000816) | 3.15416953 |
| 75 | negative regulation of mitotic sister chromatid segregation (GO:0033048) | 3.15416953 |
| 76 | positive regulation of cGMP biosynthetic process (GO:0030828) | 3.15144376 |
| 77 | * establishment of mitotic spindle localization (GO:0040001) | 3.14410969 |
| 78 | regulation of mitotic metaphase/anaphase transition (GO:0030071) | 3.14219108 |
| 79 | negative regulation of chromosome segregation (GO:0051985) | 3.12855556 |
| 80 | mitotic spindle assembly checkpoint (GO:0007094) | 3.10966610 |
| 81 | protein heterotetramerization (GO:0051290) | 3.10936893 |
| 82 | regulation of metaphase/anaphase transition of cell cycle (GO:1902099) | 3.06477091 |
| 83 | protoporphyrinogen IX biosynthetic process (GO:0006782) | 3.06455415 |
| 84 | microtubule polymerization or depolymerization (GO:0031109) | 3.05970552 |
| 85 | negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100) | 3.05362642 |
| 86 | heterochromatin organization (GO:0070828) | 3.04678712 |
| 87 | desmosome organization (GO:0002934) | 3.04163254 |
| 88 | DNA strand elongation (GO:0022616) | 3.03683090 |
| 89 | mitotic sister chromatid cohesion (GO:0007064) | 3.03262192 |
| 90 | telomere maintenance via semi-conservative replication (GO:0032201) | 3.02589586 |
| 91 | histone-serine phosphorylation (GO:0035404) | 3.01319088 |
| 92 | mitotic spindle checkpoint (GO:0071174) | 3.00151429 |
| 93 | chromosome condensation (GO:0030261) | 2.98967647 |
| 94 | spindle assembly (GO:0051225) | 2.98311439 |
| 95 | regulation of cGMP biosynthetic process (GO:0030826) | 2.97948189 |
| 96 | DNA replication initiation (GO:0006270) | 2.97860944 |
| 97 | establishment of chromosome localization (GO:0051303) | 2.97506771 |
| 98 | nuclear envelope organization (GO:0006998) | 2.96674034 |
| 99 | histone exchange (GO:0043486) | 2.96201221 |
| 100 | DNA replication-independent nucleosome assembly (GO:0006336) | 2.96157574 |
| 101 | DNA replication-independent nucleosome organization (GO:0034724) | 2.96157574 |
| 102 | nonmotile primary cilium assembly (GO:0035058) | 2.96114932 |
| 103 | detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580) | 2.92341371 |
| 104 | microtubule cytoskeleton organization involved in mitosis (GO:1902850) | 2.91832965 |
| 105 | regulation of sister chromatid segregation (GO:0033045) | 2.91023662 |
| 106 | regulation of mitotic sister chromatid separation (GO:0010965) | 2.91023662 |
| 107 | regulation of mitotic sister chromatid segregation (GO:0033047) | 2.91023662 |
| 108 | DNA topological change (GO:0006265) | 2.90424802 |
| 109 | interkinetic nuclear migration (GO:0022027) | 2.88375723 |
| 110 | centrosome duplication (GO:0051298) | 2.87437640 |
| 111 | negative regulation of DNA repair (GO:0045738) | 2.87200263 |
| 112 | double-strand break repair via nonhomologous end joining (GO:0006303) | 2.84911374 |
| 113 | non-recombinational repair (GO:0000726) | 2.84911374 |
| 114 | DNA ligation (GO:0006266) | 2.84130554 |
| 115 | * establishment of spindle localization (GO:0051293) | 2.82262506 |
| 116 | nuclear pore organization (GO:0006999) | 2.81143601 |
| 117 | peptidyl-lysine dimethylation (GO:0018027) | 2.80288012 |
| 118 | telomere maintenance via recombination (GO:0000722) | 2.80193106 |
| 119 | protein localization to chromosome (GO:0034502) | 2.79709313 |
| 120 | regulation of RNA export from nucleus (GO:0046831) | 2.79480571 |
| 121 | mitotic nuclear envelope disassembly (GO:0007077) | 2.78594330 |
| 122 | DNA strand elongation involved in DNA replication (GO:0006271) | 2.78591200 |
| 123 | regulation of DNA endoreduplication (GO:0032875) | 2.78340143 |
| 124 | chromosome segregation (GO:0007059) | 2.77929049 |
| 125 | mitotic recombination (GO:0006312) | 2.76125888 |
| 126 | prenylation (GO:0097354) | 2.75681150 |
| 127 | protein prenylation (GO:0018342) | 2.75681150 |
| 128 | mitotic G2 DNA damage checkpoint (GO:0007095) | 2.73917916 |
| 129 | cell morphogenesis involved in neuron differentiation (GO:0048667) | 2.73732796 |
| 130 | regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083) | 2.73461297 |
| 131 | meiotic chromosome segregation (GO:0045132) | 2.73344513 |
| 132 | negative regulation of cell cycle G2/M phase transition (GO:1902750) | 2.72636070 |
| 133 | DNA synthesis involved in DNA repair (GO:0000731) | 2.72354802 |
| 134 | microtubule depolymerization (GO:0007019) | 2.71744032 |
| 135 | histone phosphorylation (GO:0016572) | 2.71680497 |
| 136 | mitotic G2/M transition checkpoint (GO:0044818) | 2.69841441 |
| 137 | cytokinesis (GO:0000910) | 2.66230840 |
| 138 | mitotic cytokinesis (GO:0000281) | 2.65690388 |
| 139 | positive regulation of cytokinesis (GO:0032467) | 2.65159564 |
| 140 | chromosome organization (GO:0051276) | 2.64437780 |
| 141 | DNA replication checkpoint (GO:0000076) | 2.63745602 |
| 142 | mitotic nuclear division (GO:0007067) | 2.63459819 |
| 143 | mitotic cell cycle (GO:0000278) | 2.62288800 |
| 144 | regulation of exit from mitosis (GO:0007096) | 2.61047388 |
| 145 | regulation of rhodopsin mediated signaling pathway (GO:0022400) | 10.1962707 |
| 146 | rhodopsin mediated signaling pathway (GO:0016056) | 10.1461200 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * FOXM1_23109430_ChIP-Seq_U2OS_Human | 8.90759930 |
| 2 | E2F7_22180533_ChIP-Seq_HELA_Human | 8.29046993 |
| 3 | * FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 4.80571182 |
| 4 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 4.76486336 |
| 5 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 4.49412730 |
| 6 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 4.28825099 |
| 7 | AR_21909140_ChIP-Seq_LNCAP_Human | 4.01087103 |
| 8 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 3.23421593 |
| 9 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 2.62340016 |
| 10 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 2.30153473 |
| 11 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 2.21058698 |
| 12 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 2.15951791 |
| 13 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.09256663 |
| 14 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 2.06779180 |
| 15 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 2.05266542 |
| 16 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 2.04567378 |
| 17 | * NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.95570614 |
| 18 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.93785046 |
| 19 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.92270507 |
| 20 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.89290773 |
| 21 | * KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.88071047 |
| 22 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.87042722 |
| 23 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.86109360 |
| 24 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.82552830 |
| 25 | GATA1_22025678_ChIP-Seq_K562_Human | 1.71092758 |
| 26 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.68980794 |
| 27 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.64969731 |
| 28 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.63054453 |
| 29 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.61384789 |
| 30 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.60703716 |
| 31 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.59013478 |
| 32 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.56028823 |
| 33 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.55290125 |
| 34 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 1.46802327 |
| 35 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.41718440 |
| 36 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.38722667 |
| 37 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.38722667 |
| 38 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.36629702 |
| 39 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 1.36327757 |
| 40 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.34794298 |
| 41 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.28386575 |
| 42 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 1.27336959 |
| 43 | * TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 1.27125824 |
| 44 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.26920845 |
| 45 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 1.26637873 |
| 46 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 1.25862880 |
| 47 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 1.23606255 |
| 48 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.21729613 |
| 49 | * E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 1.18287416 |
| 50 | * FOXM1_26456572_ChIP-Seq_MCF-7_Human | 1.17669043 |
| 51 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.17425940 |
| 52 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 1.17373795 |
| 53 | BRD4_25478319_ChIP-Seq_HGPS_Human | 1.16117080 |
| 54 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.16045074 |
| 55 | CTNNB1_20460455_ChIP-Seq_HCT116_Human | 1.15810116 |
| 56 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 1.15776629 |
| 57 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.13242612 |
| 58 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.12091709 |
| 59 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 1.11806832 |
| 60 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.11596777 |
| 61 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.11327904 |
| 62 | CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 1.10802232 |
| 63 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 1.10714176 |
| 64 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.06834613 |
| 65 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.06153017 |
| 66 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.04203092 |
| 67 | VDR_23849224_ChIP-Seq_CD4+_Human | 1.03028716 |
| 68 | * SOX2_19030024_ChIP-ChIP_MESCs_Mouse | 1.02301270 |
| 69 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.01668821 |
| 70 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.00923655 |
| 71 | EOMES_20176728_ChIP-ChIP_TSCs_Mouse | 1.00557487 |
| 72 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.98705835 |
| 73 | FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.97513729 |
| 74 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 0.97369226 |
| 75 | CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse | 0.96751322 |
| 76 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 0.95220252 |
| 77 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.94709397 |
| 78 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 0.94287215 |
| 79 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 0.94137211 |
| 80 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 0.92676112 |
| 81 | * TRIM28_19339689_ChIP-ChIP_MESCs_Mouse | 0.92666075 |
| 82 | FUS_26573619_Chip-Seq_HEK293_Human | 0.92660171 |
| 83 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 0.91947068 |
| 84 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 0.91782229 |
| 85 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.90543877 |
| 86 | NKX2-5_21415370_ChIP-Seq_HL-1_Mouse | 0.90506479 |
| 87 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 0.89982919 |
| 88 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 0.89910413 |
| 89 | * CHD1_26751641_Chip-Seq_LNCaP_Human | 0.89526381 |
| 90 | * POU3F2_20337985_ChIP-ChIP_501MEL_Human | 0.88422272 |
| 91 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 0.88026086 |
| 92 | DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 0.87758693 |
| 93 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 0.86366972 |
| 94 | GATA6_25053715_ChIP-Seq_YYC3_Human | 0.86245186 |
| 95 | * UBF1/2_26484160_Chip-Seq_HMECs_Human | 0.85992674 |
| 96 | GABP_19822575_ChIP-Seq_HepG2_Human | 0.85943901 |
| 97 | GATA4_21415370_ChIP-Seq_HL-1_Mouse | 0.83336458 |
| 98 | VDR_22108803_ChIP-Seq_LS180_Human | 0.83010797 |
| 99 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 0.82986358 |
| 100 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 0.82654891 |
| 101 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 0.82443316 |
| 102 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 0.82296618 |
| 103 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 0.81996338 |
| 104 | SMAD1_18555785_ChIP-Seq_MESCs_Mouse | 0.80755808 |
| 105 | ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 0.80585546 |
| 106 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 0.79305343 |
| 107 | FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human | 0.78932224 |
| 108 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 0.78671578 |
| 109 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 0.78562277 |
| 110 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 0.78105347 |
| 111 | SALL4_18804426_ChIP-ChIP_MESCs_Mouse | 0.77588448 |
| 112 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 0.76831624 |
| 113 | FOXA1_26743006_Chip-Seq_LNCaP-abl_Human | 0.76146539 |
| 114 | * SOX17_20123909_ChIP-Seq_XEN_Mouse | 0.75253534 |
| 115 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 0.75245437 |
| 116 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 0.75244135 |
| 117 | * SOX9_24532713_ChIP-Seq_HFSC_Mouse | 0.74632484 |
| 118 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 0.74537407 |
| 119 | * RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 0.74513272 |
| 120 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 0.74208408 |
| 121 | * KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.74179982 |
| 122 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 0.73801640 |
| 123 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 0.72320175 |
| 124 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 0.72119161 |
| 125 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 0.71818919 |
| 126 | TP53_16413492_ChIP-PET_HCT116_Human | 0.71583095 |
| 127 | * KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.71160512 |
| 128 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 0.70930774 |
| 129 | CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human | 0.70572779 |
| 130 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 0.70003361 |
| 131 | CLOCK_20551151_ChIP-Seq_293T_Human | 0.69748875 |
| 132 | TCF3_18692474_ChIP-Seq_MEFs_Mouse | 0.69675370 |
| 133 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 0.69170443 |
| 134 | EWS_26573619_Chip-Seq_HEK293_Human | 0.68428148 |
| 135 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.68066619 |
| 136 | ATF3_27146783_Chip-Seq_COLON_Human | 0.67967493 |
| 137 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 0.67545473 |
| 138 | * KLF4_18555785_ChIP-Seq_MESCs_Mouse | 0.67336037 |
| 139 | * FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 0.66839011 |
| 140 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 0.63460259 |
| 141 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 0.63230154 |
| 142 | * NANOG_21062744_ChIP-ChIP_HESCs_Human | 0.63095569 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003011_delayed_dark_adaptation | 6.48070785 |
| 2 | MP0005551_abnormal_eye_electrophysiolog | 6.10482041 |
| 3 | MP0005253_abnormal_eye_physiology | 4.12741656 |
| 4 | MP0006072_abnormal_retinal_apoptosis | 3.90340159 |
| 5 | MP0003950_abnormal_plasma_membrane | 3.86284028 |
| 6 | MP0010030_abnormal_orbit_morphology | 2.86457100 |
| 7 | MP0005195_abnormal_posterior_eye | 2.67651565 |
| 8 | MP0002877_abnormal_melanocyte_morpholog | 2.62669978 |
| 9 | MP0005391_vision/eye_phenotype | 2.52699608 |
| 10 | MP0003111_abnormal_nucleus_morphology | 2.40764579 |
| 11 | MP0001324_abnormal_eye_pigmentation | 2.32776451 |
| 12 | MP0003705_abnormal_hypodermis_morpholog | 2.25992664 |
| 13 | MP0010234_abnormal_vibrissa_follicle | 2.17382559 |
| 14 | MP0009697_abnormal_copulation | 1.94033189 |
| 15 | MP0008438_abnormal_cutaneous_collagen | 1.87992714 |
| 16 | MP0003077_abnormal_cell_cycle | 1.87552941 |
| 17 | MP0010094_abnormal_chromosome_stability | 1.87513980 |
| 18 | MP0002009_preneoplasia | 1.83106682 |
| 19 | MP0003693_abnormal_embryo_hatching | 1.78495757 |
| 20 | MP0010678_abnormal_skin_adnexa | 1.77830824 |
| 21 | MP0000383_abnormal_hair_follicle | 1.77504490 |
| 22 | MP0004957_abnormal_blastocyst_morpholog | 1.71146499 |
| 23 | MP0000647_abnormal_sebaceous_gland | 1.68511953 |
| 24 | MP0005275_abnormal_skin_tensile | 1.65907471 |
| 25 | MP0002090_abnormal_vision | 1.65014657 |
| 26 | MP0000537_abnormal_urethra_morphology | 1.59198569 |
| 27 | MP0008789_abnormal_olfactory_epithelium | 1.59060151 |
| 28 | MP0002396_abnormal_hematopoietic_system | 1.54926940 |
| 29 | MP0005409_darkened_coat_color | 1.41819893 |
| 30 | MP0008007_abnormal_cellular_replicative | 1.40491239 |
| 31 | MP0009053_abnormal_anal_canal | 1.38314222 |
| 32 | MP0004185_abnormal_adipocyte_glucose | 1.37774687 |
| 33 | MP0000566_synostosis | 1.37198024 |
| 34 | MP0000377_abnormal_hair_follicle | 1.34424976 |
| 35 | MP0005501_abnormal_skin_physiology | 1.34293987 |
| 36 | MP0008932_abnormal_embryonic_tissue | 1.33317182 |
| 37 | MP0000569_abnormal_digit_pigmentation | 1.33063292 |
| 38 | MP0003937_abnormal_limbs/digits/tail_de | 1.31930274 |
| 39 | MP0008058_abnormal_DNA_repair | 1.29546865 |
| 40 | MP0002282_abnormal_trachea_morphology | 1.27636891 |
| 41 | MP0003566_abnormal_cell_adhesion | 1.27105808 |
| 42 | MP0006054_spinal_hemorrhage | 1.25821953 |
| 43 | MP0001730_embryonic_growth_arrest | 1.24473410 |
| 44 | MP0000762_abnormal_tongue_morphology | 1.23036932 |
| 45 | MP0004808_abnormal_hematopoietic_stem | 1.22165651 |
| 46 | MP0009384_cardiac_valve_regurgitation | 1.21804011 |
| 47 | MP0003984_embryonic_growth_retardation | 1.21322901 |
| 48 | MP0000462_abnormal_digestive_system | 1.20155661 |
| 49 | MP0008057_abnormal_DNA_replication | 1.19460297 |
| 50 | MP0002098_abnormal_vibrissa_morphology | 1.18896158 |
| 51 | MP0002796_impaired_skin_barrier | 1.18737602 |
| 52 | MP0000579_abnormal_nail_morphology | 1.17811029 |
| 53 | MP0001243_abnormal_dermal_layer | 1.16465187 |
| 54 | MP0003656_abnormal_erythrocyte_physiolo | 1.15396192 |
| 55 | MP0002088_abnormal_embryonic_growth/wei | 1.14718645 |
| 56 | MP0000350_abnormal_cell_proliferation | 1.13116370 |
| 57 | MP0002086_abnormal_extraembryonic_tissu | 1.12283708 |
| 58 | MP0005394_taste/olfaction_phenotype | 1.11456645 |
| 59 | MP0005499_abnormal_olfactory_system | 1.11456645 |
| 60 | MP0001299_abnormal_eye_distance/ | 1.10939808 |
| 61 | MP0001293_anophthalmia | 1.10854323 |
| 62 | MP0001286_abnormal_eye_development | 1.09713516 |
| 63 | MP0002638_abnormal_pupillary_reflex | 1.09522785 |
| 64 | MP0009250_abnormal_appendicular_skeleto | 1.08782001 |
| 65 | MP0000428_abnormal_craniofacial_morphol | 1.07360079 |
| 66 | MP0000749_muscle_degeneration | 1.06668125 |
| 67 | MP0000427_abnormal_hair_cycle | 1.06506300 |
| 68 | MP0010352_gastrointestinal_tract_polyps | 1.06374629 |
| 69 | MP0000467_abnormal_esophagus_morphology | 1.05013399 |
| 70 | MP0002752_abnormal_somatic_nervous | 1.04225880 |
| 71 | MP0005360_urolithiasis | 1.03747161 |
| 72 | MP0003786_premature_aging | 1.03447730 |
| 73 | MP0002697_abnormal_eye_size | 1.03014734 |
| 74 | MP0002229_neurodegeneration | 1.00627280 |
| 75 | MP0002060_abnormal_skin_morphology | 1.00370923 |
| 76 | MP0010307_abnormal_tumor_latency | 0.99441407 |
| 77 | MP0002092_abnormal_eye_morphology | 0.99023159 |
| 78 | MP0005187_abnormal_penis_morphology | 0.97645090 |
| 79 | * MP0005621_abnormal_cell_physiology | 0.96749106 |
| 80 | MP0005503_abnormal_tendon_morphology | 0.96426054 |
| 81 | MP0003123_paternal_imprinting | 0.95393622 |
| 82 | MP0002234_abnormal_pharynx_morphology | 0.94962398 |
| 83 | MP0004147_increased_porphyrin_level | 0.94943914 |
| 84 | MP0001764_abnormal_homeostasis | 0.94214830 |
| 85 | MP0003755_abnormal_palate_morphology | 0.94103857 |
| 86 | MP0003453_abnormal_keratinocyte_physiol | 0.93682177 |
| 87 | MP0001346_abnormal_lacrimal_gland | 0.92803784 |
| 88 | MP0002233_abnormal_nose_morphology | 0.92414871 |
| 89 | MP0000013_abnormal_adipose_tissue | 0.92263250 |
| 90 | MP0000003_abnormal_adipose_tissue | 0.92135918 |
| 91 | MP0002269_muscular_atrophy | 0.91567488 |
| 92 | MP0005171_absent_coat_pigmentation | 0.91223440 |
| 93 | MP0004233_abnormal_muscle_weight | 0.91110014 |
| 94 | MP0003385_abnormal_body_wall | 0.90528644 |
| 95 | MP0000049_abnormal_middle_ear | 0.89615101 |
| 96 | MP0005197_abnormal_uvea_morphology | 0.89037049 |
| 97 | MP0004197_abnormal_fetal_growth/weight/ | 0.87874553 |
| 98 | MP0001216_abnormal_epidermal_layer | 0.86371216 |
| 99 | MP0004264_abnormal_extraembryonic_tissu | 0.86349231 |
| 100 | MP0003890_abnormal_embryonic-extraembry | 0.85755118 |
| 101 | MP0002085_abnormal_embryonic_tissue | 0.85470606 |
| 102 | MP0000313_abnormal_cell_death | 0.85231093 |
| 103 | MP0003718_maternal_effect | 0.85006837 |
| 104 | MP0005023_abnormal_wound_healing | 0.82967053 |
| 105 | MP0003935_abnormal_craniofacial_develop | 0.82451336 |
| 106 | * MP0005076_abnormal_cell_differentiation | 0.81711640 |
| 107 | MP0004134_abnormal_chest_morphology | 0.80913835 |
| 108 | MP0003941_abnormal_skin_development | 0.80622911 |
| 109 | MP0003115_abnormal_respiratory_system | 0.80306870 |
| 110 | MP0002102_abnormal_ear_morphology | 0.79874657 |
| 111 | MP0000627_abnormal_mammary_gland | 0.79691805 |
| 112 | MP0001849_ear_inflammation | 0.78738030 |
| 113 | MP0001697_abnormal_embryo_size | 0.78595462 |
| 114 | MP0000733_abnormal_muscle_development | 0.78205907 |
| 115 | MP0002095_abnormal_skin_pigmentation | 0.77340840 |
| 116 | MP0001191_abnormal_skin_condition | 0.76809442 |
| 117 | * MP0005384_cellular_phenotype | 0.76360528 |
| 118 | MP0009931_abnormal_skin_appearance | 0.75689742 |
| 119 | MP0010771_integument_phenotype | 0.74992349 |
| 120 | MP0002114_abnormal_axial_skeleton | 0.74639675 |
| 121 | MP0002111_abnormal_tail_morphology | 0.74361218 |
| 122 | MP0009780_abnormal_chondrocyte_physiolo | 0.73335096 |
| 123 | MP0003943_abnormal_hepatobiliary_system | 0.72925180 |
| 124 | MP0002084_abnormal_developmental_patter | 0.71664673 |
| 125 | MP0001340_abnormal_eyelid_morphology | 0.69384322 |
| 126 | MP0001348_abnormal_lacrimal_gland | 0.68912865 |
| 127 | MP0003806_abnormal_nucleotide_metabolis | 0.68480341 |
| 128 | MP0003315_abnormal_perineum_morphology | 0.68230058 |
| 129 | MP0000759_abnormal_skeletal_muscle | 0.67717738 |
| 130 | MP0004381_abnormal_hair_follicle | 0.67304034 |
| 131 | MP0000432_abnormal_head_morphology | 0.66811358 |
| 132 | MP0002932_abnormal_joint_morphology | 0.65593966 |
| 133 | MP0005380_embryogenesis_phenotype | 0.64673492 |
| 134 | MP0001672_abnormal_embryogenesis/_devel | 0.64673492 |
| 135 | MP0002080_prenatal_lethality | 0.64268594 |
| 136 | MP0002249_abnormal_larynx_morphology | 0.64038433 |
| 137 | MP0001915_intracranial_hemorrhage | 0.63968924 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Bony spicule pigmentary retinopathy (HP:0007737) | 8.37503415 |
| 2 | Chorioretinal atrophy (HP:0000533) | 7.33701114 |
| 3 | Pigmentary retinal degeneration (HP:0001146) | 6.90255256 |
| 4 | Abnormal rod and cone electroretinograms (HP:0008323) | 6.75551419 |
| 5 | Pendular nystagmus (HP:0012043) | 6.11318308 |
| 6 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 6.01057412 |
| 7 | Attenuation of retinal blood vessels (HP:0007843) | 5.25287932 |
| 8 | Abnormality of macular pigmentation (HP:0008002) | 5.00530186 |
| 9 | Increased corneal curvature (HP:0100692) | 4.84765986 |
| 10 | Keratoconus (HP:0000563) | 4.84765986 |
| 11 | Dyschromatopsia (HP:0007641) | 4.84055887 |
| 12 | Central scotoma (HP:0000603) | 4.83483420 |
| 13 | Vitreoretinal degeneration (HP:0000655) | 4.74943486 |
| 14 | Scotoma (HP:0000575) | 4.59594932 |
| 15 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 4.42121397 |
| 16 | Chromsome breakage (HP:0040012) | 4.30758654 |
| 17 | Type II diabetes mellitus (HP:0005978) | 4.15403489 |
| 18 | Photophobia (HP:0000613) | 3.98305883 |
| 19 | Decreased central vision (HP:0007663) | 3.89717388 |
| 20 | Abolished electroretinogram (ERG) (HP:0000550) | 3.77830770 |
| 21 | Cone-rod dystrophy (HP:0000548) | 3.67686172 |
| 22 | Retinitis pigmentosa (HP:0000510) | 3.27810828 |
| 23 | Deep philtrum (HP:0002002) | 3.23408029 |
| 24 | Severe visual impairment (HP:0001141) | 3.21014089 |
| 25 | Macular degeneration (HP:0000608) | 3.07326234 |
| 26 | Abnormal auditory evoked potentials (HP:0006958) | 3.02241778 |
| 27 | Choroideremia (HP:0001139) | 2.88612823 |
| 28 | Ankyloglossia (HP:0010296) | 2.83280993 |
| 29 | Missing ribs (HP:0000921) | 2.58482343 |
| 30 | Posterior subcapsular cataract (HP:0007787) | 2.58206467 |
| 31 | 11 pairs of ribs (HP:0000878) | 2.53406015 |
| 32 | Cystic hygroma (HP:0000476) | 2.48242406 |
| 33 | Poikiloderma (HP:0001029) | 2.44698125 |
| 34 | Sandal gap (HP:0001852) | 2.38573969 |
| 35 | Premature rupture of membranes (HP:0001788) | 2.36323909 |
| 36 | Nephroblastoma (Wilms tumor) (HP:0002667) | 2.36019093 |
| 37 | Abnormality of chromosome stability (HP:0003220) | 2.33541229 |
| 38 | Termporal pattern (HP:0011008) | 2.27139744 |
| 39 | Insidious onset (HP:0003587) | 2.27139744 |
| 40 | Abnormality of the preputium (HP:0100587) | 2.24957804 |
| 41 | Cortical dysplasia (HP:0002539) | 2.20355983 |
| 42 | Embryonal renal neoplasm (HP:0011794) | 2.19725260 |
| 43 | Abnormality of oral frenula (HP:0000190) | 2.19275508 |
| 44 | Microglossia (HP:0000171) | 2.18924043 |
| 45 | Decreased number of large peripheral myelinated nerve fibers (HP:0003387) | 2.17015931 |
| 46 | Entropion (HP:0000621) | 2.13927319 |
| 47 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 2.13578097 |
| 48 | Osteolytic defects of the hand bones (HP:0009699) | 2.13578097 |
| 49 | Constricted visual fields (HP:0001133) | 2.12206601 |
| 50 | Abnormality of the calcaneus (HP:0008364) | 2.12174100 |
| 51 | Short nail (HP:0001799) | 2.07255004 |
| 52 | Duplicated collecting system (HP:0000081) | 2.04421887 |
| 53 | Long clavicles (HP:0000890) | 2.02010651 |
| 54 | Small epiphyses (HP:0010585) | 2.01272163 |
| 55 | Decreased lacrimation (HP:0000633) | 2.01252701 |
| 56 | Broad distal phalanx of finger (HP:0009836) | 2.00140593 |
| 57 | Congenital stationary night blindness (HP:0007642) | 12.7940023 |
| 58 | Abnormality of chromosome segregation (HP:0002916) | 1.99949746 |
| 59 | Volvulus (HP:0002580) | 1.99009932 |
| 60 | Vertebral arch anomaly (HP:0008438) | 1.98463619 |
| 61 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.97634311 |
| 62 | Myelodysplasia (HP:0002863) | 1.96512512 |
| 63 | Insomnia (HP:0100785) | 1.94567536 |
| 64 | Papillary thyroid carcinoma (HP:0002895) | 1.94372045 |
| 65 | Hypopigmentation of the fundus (HP:0007894) | 1.93342215 |
| 66 | Right ventricular cardiomyopathy (HP:0011663) | 1.93160042 |
| 67 | Poikilocytosis (HP:0004447) | 1.92363430 |
| 68 | * Heterotopia (HP:0002282) | 1.91661002 |
| 69 | Abnormality of the proximal phalanges of the hand (HP:0009834) | 1.90539030 |
| 70 | Soft skin (HP:0000977) | 1.88223097 |
| 71 | Protrusio acetabuli (HP:0003179) | 1.87609378 |
| 72 | Medulloblastoma (HP:0002885) | 1.86243997 |
| 73 | Cafe-au-lait spot (HP:0000957) | 1.85241037 |
| 74 | Autoamputation (HP:0001218) | 1.82977799 |
| 75 | Duplication of thumb phalanx (HP:0009942) | 1.82403550 |
| 76 | Hyperacusis (HP:0010780) | 1.82001786 |
| 77 | Milia (HP:0001056) | 1.80900773 |
| 78 | Abnormality of the carotid arteries (HP:0005344) | 1.80283972 |
| 79 | Urethral obstruction (HP:0000796) | 1.79433664 |
| 80 | Increased nuchal translucency (HP:0010880) | 1.79214604 |
| 81 | Congenital sensorineural hearing impairment (HP:0008527) | 1.78743658 |
| 82 | Abnormality of the duodenum (HP:0002246) | 1.78010857 |
| 83 | Ankle contracture (HP:0006466) | 1.75933962 |
| 84 | Wide nasal bridge (HP:0000431) | 1.75173611 |
| 85 | Embryonal neoplasm (HP:0002898) | 1.74866745 |
| 86 | Asymmetry of the thorax (HP:0001555) | 1.74424659 |
| 87 | Ependymoma (HP:0002888) | 1.73656251 |
| 88 | Abnormality of the distal phalanx of the thumb (HP:0009617) | 1.73132246 |
| 89 | Natal tooth (HP:0000695) | 1.72943524 |
| 90 | Uterine leiomyosarcoma (HP:0002891) | 1.72434670 |
| 91 | Leiomyosarcoma (HP:0100243) | 1.72434670 |
| 92 | Relative macrocephaly (HP:0004482) | 1.72178452 |
| 93 | Neonatal short-limb short stature (HP:0008921) | 1.71317784 |
| 94 | Acute myeloid leukemia (HP:0004808) | 1.71079806 |
| 95 | Optic disc pallor (HP:0000543) | 1.70882830 |
| 96 | Ectopic kidney (HP:0000086) | 1.69620575 |
| 97 | Breech presentation (HP:0001623) | 1.69466281 |
| 98 | Proximal placement of thumb (HP:0009623) | 1.68963295 |
| 99 | Facial hemangioma (HP:0000329) | 1.68879947 |
| 100 | Increased connective tissue (HP:0009025) | 1.67815462 |
| 101 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 1.67309799 |
| 102 | Abnormality of the renal collecting system (HP:0004742) | 1.66925251 |
| 103 | Rhabdomyosarcoma (HP:0002859) | 1.65268182 |
| 104 | Overlapping toe (HP:0001845) | 1.64853853 |
| 105 | Deviation of the thumb (HP:0009603) | 1.63699146 |
| 106 | Abnormality of the phalanges of the hallux (HP:0010057) | 1.62693743 |
| 107 | Bowel incontinence (HP:0002607) | 1.61576292 |
| 108 | Abnormality of nail color (HP:0100643) | 1.61458311 |
| 109 | Coronal craniosynostosis (HP:0004440) | 1.60825321 |
| 110 | Sloping forehead (HP:0000340) | 1.60757510 |
| 111 | Meckel diverticulum (HP:0002245) | 1.59550524 |
| 112 | Irregular epiphyses (HP:0010582) | 1.59065247 |
| 113 | Flat capital femoral epiphysis (HP:0003370) | 1.58906005 |
| 114 | Abnormality of the epiphyses of the hand (HP:0005924) | 1.58694626 |
| 115 | Absent radius (HP:0003974) | 1.58675674 |
| 116 | Alopecia of scalp (HP:0002293) | 1.58524808 |
| 117 | Spinal cord lesions (HP:0100561) | 1.58243919 |
| 118 | Syringomyelia (HP:0003396) | 1.58243919 |
| 119 | Abnormality involving the epiphyses of the upper limbs (HP:0003839) | 1.57493278 |
| 120 | Sparse scalp hair (HP:0002209) | 1.54833919 |
| 121 | Narrow face (HP:0000275) | 1.53644021 |
| 122 | Selective tooth agenesis (HP:0001592) | 1.52815646 |
| 123 | Flared metaphyses (HP:0003015) | 1.52414853 |
| 124 | Flattened epiphyses (HP:0003071) | 1.52174554 |
| 125 | Dysmetric saccades (HP:0000641) | 1.51529947 |
| 126 | Plantar hyperkeratosis (HP:0007556) | 1.51103418 |
| 127 | Elbow flexion contracture (HP:0002987) | 1.50607088 |
| 128 | Cupped ribs (HP:0000887) | 1.50401603 |
| 129 | Prominent nose (HP:0000448) | 1.50009291 |
| 130 | Abnormality of DNA repair (HP:0003254) | 1.49541653 |
| 131 | Obsessive-compulsive behavior (HP:0000722) | 1.49478345 |
| 132 | Abnormal large intestine physiology (HP:0012700) | 1.49418518 |
| 133 | Subcapsular cataract (HP:0000523) | 1.49384178 |
| 134 | Pili torti (HP:0003777) | 1.49204629 |
| 135 | Abnormality of the ileum (HP:0001549) | 1.48139334 |
| 136 | Freckling (HP:0001480) | 1.48077920 |
| 137 | Biliary tract neoplasm (HP:0100574) | 1.47978264 |
| 138 | High anterior hairline (HP:0009890) | 1.47248331 |
| 139 | Cholecystitis (HP:0001082) | 1.47136146 |
| 140 | Abnormal gallbladder physiology (HP:0012438) | 1.47136146 |
| 141 | Ulnar bowing (HP:0003031) | 1.46719725 |
| 142 | Aortic dissection (HP:0002647) | 1.46327280 |
| 143 | Abnormality of the astrocytes (HP:0100707) | 1.45825703 |
| 144 | Astrocytoma (HP:0009592) | 1.45825703 |
| 145 | Short 4th metacarpal (HP:0010044) | 1.45535305 |
| 146 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 1.45535305 |
| 147 | Large earlobe (HP:0009748) | 1.45253633 |
| 148 | Abnormality of abdominal situs (HP:0011620) | 1.44467654 |
| 149 | Abdominal situs inversus (HP:0003363) | 1.44467654 |
| 150 | Oligodactyly (HP:0012165) | 1.44307125 |
| 151 | Esophageal atresia (HP:0002032) | 1.43427892 |
| 152 | Ileus (HP:0002595) | 1.43209360 |
| 153 | Vertebral clefting (HP:0008428) | 1.41246510 |
| 154 | Acanthocytosis (HP:0001927) | 1.39326702 |
| 155 | Absent epiphyses (HP:0010577) | 1.38121707 |
| 156 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.38121707 |
| 157 | Megalencephaly (HP:0001355) | 1.38108131 |
| 158 | Delayed epiphyseal ossification (HP:0002663) | 1.37239287 |
| 159 | Aortic aneurysm (HP:0004942) | 1.37167141 |
| 160 | Shallow orbits (HP:0000586) | 1.36838921 |
| 161 | Epiphyseal dysplasia (HP:0002656) | 1.36623062 |
| 162 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 1.35667375 |
| 163 | Severe Myopia (HP:0011003) | 1.33974286 |
| 164 | Malignant gastrointestinal tract tumors (HP:0006749) | 1.32015649 |
| 165 | Gastrointestinal carcinoma (HP:0002672) | 1.32015649 |
| 166 | Fragile skin (HP:0001030) | 1.31993675 |
| 167 | Hereditary nonpolyposis colorectal carcinoma (HP:0006716) | 1.30721009 |
| 168 | Atrophic scars (HP:0001075) | 1.30489422 |
| 169 | Abnormal sex determination (HP:0012244) | 1.29476611 |
| 170 | Sex reversal (HP:0012245) | 1.29476611 |
| 171 | Blepharitis (HP:0000498) | 1.27366524 |
| 172 | Astigmatism (HP:0000483) | 1.27007977 |
| 173 | Congenital primary aphakia (HP:0007707) | 1.25988312 |
| 174 | Abnormal vertebral ossification (HP:0100569) | 1.25903183 |
| 175 | Abnormality of the 2nd finger (HP:0004100) | 1.25032046 |
| 176 | Abnormal lung lobation (HP:0002101) | 1.22885280 |
| 177 | Short 5th finger (HP:0009237) | 1.22156335 |
| 178 | Atresia of the external auditory canal (HP:0000413) | 1.21815007 |
| 179 | Short middle phalanx of the 5th finger (HP:0004220) | 1.21213503 |
| 180 | Glioma (HP:0009733) | 1.20075332 |
| 181 | Duodenal stenosis (HP:0100867) | 1.20001326 |
| 182 | Small intestinal stenosis (HP:0012848) | 1.20001326 |
| 183 | Hypoplastic pelvis (HP:0008839) | 1.19657556 |
| 184 | Onycholysis (HP:0001806) | 1.19299831 |
| 185 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.18922027 |
| 186 | Metaphyseal cupping (HP:0003021) | 1.18696076 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BUB1 | 4.91420775 |
| 2 | CDC7 | 3.35937441 |
| 3 | NEK2 | 3.25145236 |
| 4 | NEK1 | 2.81301614 |
| 5 | TTK | 2.72869478 |
| 6 | WEE1 | 2.66238738 |
| 7 | GRK1 | 2.62222470 |
| 8 | EIF2AK1 | 2.59528296 |
| 9 | TLK1 | 2.32860062 |
| 10 | BRSK1 | 2.24171653 |
| 11 | RPS6KA4 | 2.14923747 |
| 12 | BRSK2 | 2.10853338 |
| 13 | STK38L | 2.02213893 |
| 14 | PLK1 | 1.75073900 |
| 15 | AURKB | 1.73883407 |
| 16 | DDR2 | 1.71306607 |
| 17 | ERBB2 | 1.70787371 |
| 18 | MKNK1 | 1.67944394 |
| 19 | PKN2 | 1.61435259 |
| 20 | CHEK2 | 1.61316720 |
| 21 | EPHA3 | 1.57219714 |
| 22 | LATS1 | 1.46867780 |
| 23 | NEK9 | 1.45107273 |
| 24 | TESK2 | 1.44447126 |
| 25 | STK10 | 1.42225487 |
| 26 | PLK3 | 1.35219454 |
| 27 | AURKA | 1.32494611 |
| 28 | STK4 | 1.29988612 |
| 29 | MAP3K6 | 1.29836298 |
| 30 | ERBB4 | 1.29596795 |
| 31 | RPS6KB2 | 1.29537814 |
| 32 | MAP3K10 | 1.28389182 |
| 33 | EPHB2 | 1.27404314 |
| 34 | ACVR1B | 1.25613544 |
| 35 | NME1 | 1.25077596 |
| 36 | MET | 1.24345568 |
| 37 | CCNB1 | 1.24271200 |
| 38 | PDGFRA | 1.19836253 |
| 39 | ATR | 1.19674030 |
| 40 | STK3 | 1.18178787 |
| 41 | MELK | 1.15168089 |
| 42 | EIF2AK3 | 1.14909634 |
| 43 | SRPK1 | 1.13986991 |
| 44 | CDK12 | 1.11193208 |
| 45 | MAP3K8 | 1.08897238 |
| 46 | CDK8 | 1.06900267 |
| 47 | RPS6KA5 | 1.02148450 |
| 48 | BCR | 1.01568239 |
| 49 | CHEK1 | 1.01512978 |
| 50 | MKNK2 | 0.98703960 |
| 51 | KSR1 | 0.98613182 |
| 52 | LIMK1 | 0.96623296 |
| 53 | CDK7 | 0.95765020 |
| 54 | ICK | 0.95316862 |
| 55 | ZAK | 0.93295002 |
| 56 | CDK6 | 0.92867866 |
| 57 | NEK6 | 0.91305116 |
| 58 | PNCK | 0.90551479 |
| 59 | * PBK | 0.89910858 |
| 60 | BRAF | 0.89376365 |
| 61 | CDK4 | 0.88599425 |
| 62 | IRAK2 | 0.85194087 |
| 63 | PAK4 | 0.84933474 |
| 64 | LATS2 | 0.84408664 |
| 65 | ATM | 0.83650178 |
| 66 | PLK4 | 0.83472780 |
| 67 | CDK3 | 0.78700142 |
| 68 | FGFR1 | 0.77141919 |
| 69 | RAF1 | 0.75724383 |
| 70 | DYRK1B | 0.74786209 |
| 71 | TESK1 | 0.72680362 |
| 72 | KSR2 | 0.72482558 |
| 73 | DYRK3 | 0.71810044 |
| 74 | MAPK11 | 0.71298955 |
| 75 | NUAK1 | 0.70398791 |
| 76 | PAK1 | 0.68520212 |
| 77 | UHMK1 | 0.68518451 |
| 78 | WNK1 | 0.67792303 |
| 79 | CDK1 | 0.66927880 |
| 80 | PTK2 | 0.64846739 |
| 81 | SIK1 | 0.64474543 |
| 82 | RET | 0.63989477 |
| 83 | TRIB3 | 0.63741492 |
| 84 | FGFR2 | 0.63477057 |
| 85 | PAK6 | 0.63432290 |
| 86 | FER | 0.62756445 |
| 87 | TAF1 | 0.62700830 |
| 88 | FLT3 | 0.62567049 |
| 89 | EPHA2 | 0.61186766 |
| 90 | CSNK1D | 0.60634410 |
| 91 | PDK2 | 0.60453454 |
| 92 | PAK2 | 0.60304712 |
| 93 | NTRK1 | 0.59796743 |
| 94 | EIF2AK2 | 0.59453636 |
| 95 | MAP3K2 | 0.58814397 |
| 96 | STK39 | 0.58637681 |
| 97 | PTK6 | 0.58299744 |
| 98 | SMG1 | 0.57388469 |
| 99 | EEF2K | 0.56586434 |
| 100 | MAPKAPK5 | 0.55876685 |
| 101 | MST1R | 0.55732958 |
| 102 | CDK14 | 0.54699431 |
| 103 | BRD4 | 0.54183942 |
| 104 | CDK2 | 0.53672334 |
| 105 | CLK1 | 0.52419057 |
| 106 | MAPK10 | 0.50835286 |
| 107 | SCYL2 | 0.48506168 |
| 108 | CDK15 | 0.48423667 |
| 109 | EPHB1 | 0.48329324 |
| 110 | PRKD3 | 0.48172658 |
| 111 | MAPKAPK2 | 0.48147698 |
| 112 | ADRBK1 | 0.46791039 |
| 113 | CDK18 | 0.46601751 |
| 114 | AKT3 | 0.45787238 |
| 115 | RPS6KB1 | 0.44619031 |
| 116 | TSSK6 | 0.44295077 |
| 117 | MTOR | 0.44221772 |
| 118 | PDGFRB | 0.44112427 |
| 119 | MST4 | 0.43001856 |
| 120 | VRK1 | 0.42713560 |
| 121 | TGFBR1 | 0.42201694 |
| 122 | CDK11A | 0.42170955 |
| 123 | TTN | 0.40570932 |
| 124 | AKT2 | 0.39745589 |
| 125 | MAP3K11 | 0.39145739 |
| 126 | CAMK1D | 0.38496672 |
| 127 | YES1 | 0.37254626 |
| 128 | LRRK2 | 0.37015078 |
| 129 | PASK | 0.37009468 |
| 130 | NME2 | 0.36944815 |
| 131 | CDK9 | 0.35913480 |
| 132 | PRKDC | 0.35763240 |
| 133 | ERBB3 | 0.35725346 |
| 134 | MUSK | 0.35517634 |
| 135 | TRPM7 | 0.34621130 |
| 136 | DMPK | 0.33512683 |
| 137 | MAPK14 | 0.33138637 |
| 138 | MAP2K1 | 0.32412884 |
| 139 | BMX | 0.32156975 |
| 140 | LMTK2 | 0.31713267 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | DNA replication_Homo sapiens_hsa03030 | 2.65980479 |
| 2 | Cell cycle_Homo sapiens_hsa04110 | 2.47984013 |
| 3 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 2.28290782 |
| 4 | Mismatch repair_Homo sapiens_hsa03430 | 2.23733474 |
| 5 | Phototransduction_Homo sapiens_hsa04744 | 11.9332958 |
| 6 | Spliceosome_Homo sapiens_hsa03040 | 1.93682664 |
| 7 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.73129871 |
| 8 | Retinol metabolism_Homo sapiens_hsa00830 | 1.57007189 |
| 9 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 1.54303024 |
| 10 | Base excision repair_Homo sapiens_hsa03410 | 1.54100243 |
| 11 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.50770294 |
| 12 | Glioma_Homo sapiens_hsa05214 | 1.47128204 |
| 13 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.44999025 |
| 14 | RNA transport_Homo sapiens_hsa03013 | 1.44940264 |
| 15 | Thyroid cancer_Homo sapiens_hsa05216 | 1.43631664 |
| 16 | Alcoholism_Homo sapiens_hsa05034 | 1.39197103 |
| 17 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.32651295 |
| 18 | Endometrial cancer_Homo sapiens_hsa05213 | 1.32078377 |
| 19 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.28284856 |
| 20 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.28100067 |
| 21 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.27897841 |
| 22 | ECM-receptor interaction_Homo sapiens_hsa04512 | 1.27723015 |
| 23 | ErbB signaling pathway_Homo sapiens_hsa04012 | 1.24370235 |
| 24 | Homologous recombination_Homo sapiens_hsa03440 | 1.20523939 |
| 25 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.19494126 |
| 26 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 1.18640210 |
| 27 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 1.18617608 |
| 28 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.12800248 |
| 29 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.08597448 |
| 30 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.07915020 |
| 31 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 1.05236398 |
| 32 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.05047196 |
| 33 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.04866989 |
| 34 | Basal cell carcinoma_Homo sapiens_hsa05217 | 1.04439320 |
| 35 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.03416723 |
| 36 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.03052080 |
| 37 | Renal cell carcinoma_Homo sapiens_hsa05211 | 1.01027946 |
| 38 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.00071706 |
| 39 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.98832095 |
| 40 | Ribosome_Homo sapiens_hsa03010 | 0.97720983 |
| 41 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.97289946 |
| 42 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.94940157 |
| 43 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.91629271 |
| 44 | Proteasome_Homo sapiens_hsa03050 | 0.91319314 |
| 45 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.91150027 |
| 46 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.90115406 |
| 47 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.89105875 |
| 48 | Gap junction_Homo sapiens_hsa04540 | 0.88710315 |
| 49 | RNA degradation_Homo sapiens_hsa03018 | 0.88029754 |
| 50 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.87850060 |
| 51 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.85630995 |
| 52 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.84494899 |
| 53 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.84305501 |
| 54 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.83946873 |
| 55 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.82266323 |
| 56 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.81137300 |
| 57 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.79896264 |
| 58 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.77814050 |
| 59 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.76087980 |
| 60 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.75208516 |
| 61 | Basal transcription factors_Homo sapiens_hsa03022 | 0.74974079 |
| 62 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.74696182 |
| 63 | Bladder cancer_Homo sapiens_hsa05219 | 0.73262352 |
| 64 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.72782366 |
| 65 | Purine metabolism_Homo sapiens_hsa00230 | 0.71770562 |
| 66 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.68134982 |
| 67 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.65956557 |
| 68 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.65019008 |
| 69 | Circadian rhythm_Homo sapiens_hsa04710 | 0.64799989 |
| 70 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.64607780 |
| 71 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.64564232 |
| 72 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.64530607 |
| 73 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.63937135 |
| 74 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.63495480 |
| 75 | Long-term depression_Homo sapiens_hsa04730 | 0.61755387 |
| 76 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.60084364 |
| 77 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.59639808 |
| 78 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.59432649 |
| 79 | Long-term potentiation_Homo sapiens_hsa04720 | 0.59373528 |
| 80 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.58568542 |
| 81 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.58073036 |
| 82 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.57725816 |
| 83 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.57614966 |
| 84 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.56658049 |
| 85 | Melanogenesis_Homo sapiens_hsa04916 | 0.54144943 |
| 86 | Tight junction_Homo sapiens_hsa04530 | 0.53764690 |
| 87 | HTLV-I infection_Homo sapiens_hsa05166 | 0.52264511 |
| 88 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.50535885 |
| 89 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.50330498 |
| 90 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.50015731 |
| 91 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.49739405 |
| 92 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.49084451 |
| 93 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.48780726 |
| 94 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.47669586 |
| 95 | Histidine metabolism_Homo sapiens_hsa00340 | 0.47272622 |
| 96 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.47098821 |
| 97 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.46880056 |
| 98 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.46424410 |
| 99 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.46276846 |
| 100 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.44753742 |
| 101 | Colorectal cancer_Homo sapiens_hsa05210 | 0.44063050 |
| 102 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.43034801 |
| 103 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.42078492 |
| 104 | Lysine degradation_Homo sapiens_hsa00310 | 0.41852646 |
| 105 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.41807449 |
| 106 | ABC transporters_Homo sapiens_hsa02010 | 0.41591166 |
| 107 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.41540712 |
| 108 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.40957446 |
| 109 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.40250877 |
| 110 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.40154548 |
| 111 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.39936544 |
| 112 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.39754871 |
| 113 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.39148679 |
| 114 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.37831778 |
| 115 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.37338165 |
| 116 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.36896937 |
| 117 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.36852822 |
| 118 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.36227510 |
| 119 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.34925921 |
| 120 | Malaria_Homo sapiens_hsa05144 | 0.34878266 |
| 121 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.34507218 |
| 122 | Mineral absorption_Homo sapiens_hsa04978 | 0.34189075 |
| 123 | RNA polymerase_Homo sapiens_hsa03020 | 0.30785819 |
| 124 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.30684623 |
| 125 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.29566196 |
| 126 | Carbon metabolism_Homo sapiens_hsa01200 | 0.29174739 |
| 127 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.28795084 |
| 128 | Adherens junction_Homo sapiens_hsa04520 | 0.26279628 |
| 129 | Hepatitis B_Homo sapiens_hsa05161 | 0.25520724 |
| 130 | Pathways in cancer_Homo sapiens_hsa05200 | 0.25055058 |
| 131 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.24623542 |
| 132 | Focal adhesion_Homo sapiens_hsa04510 | 0.24471832 |
| 133 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.24343299 |
| 134 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.23449190 |
| 135 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.22702542 |
| 136 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.22021915 |
| 137 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.21302088 |
| 138 | Prostate cancer_Homo sapiens_hsa05215 | 0.20778381 |
| 139 | Melanoma_Homo sapiens_hsa05218 | 0.18722727 |
| 140 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.18275846 |
| 141 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.17729382 |
| 142 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.17347000 |

