

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | regulation of meiosis I (GO:0060631) | 9.37305264 |
| 2 | synaptonemal complex assembly (GO:0007130) | 8.71988507 |
| 3 | male meiosis (GO:0007140) | 8.05106734 |
| 4 | synaptonemal complex organization (GO:0070193) | 8.01303820 |
| 5 | meiotic nuclear division (GO:0007126) | 6.79054864 |
| 6 | chromosome organization involved in meiosis (GO:0070192) | 6.37692642 |
| 7 | male meiosis I (GO:0007141) | 6.14401778 |
| 8 | gene silencing by RNA (GO:0031047) | 5.66427004 |
| 9 | meiotic chromosome segregation (GO:0045132) | 5.61078891 |
| 10 | positive regulation of meiosis (GO:0045836) | 5.50331377 |
| 11 | DNA methylation (GO:0006306) | 5.46459464 |
| 12 | DNA alkylation (GO:0006305) | 5.46459464 |
| 13 | attachment of spindle microtubules to kinetochore (GO:0008608) | 5.35016602 |
| 14 | meiosis I (GO:0007127) | 5.29128428 |
| 15 | negative regulation of meiosis (GO:0045835) | 5.26356003 |
| 16 | positive regulation of meiotic cell cycle (GO:0051446) | 5.19967377 |
| 17 | nuclear pore complex assembly (GO:0051292) | 5.18534936 |
| 18 | oogenesis (GO:0048477) | 5.06395782 |
| 19 | nuclear pore organization (GO:0006999) | 5.04027217 |
| 20 | meiotic cell cycle process (GO:1903046) | 5.00359608 |
| 21 | mitotic chromosome condensation (GO:0007076) | 4.89562129 |
| 22 | reciprocal DNA recombination (GO:0035825) | 4.74333224 |
| 23 | reciprocal meiotic recombination (GO:0007131) | 4.74333224 |
| 24 | female gamete generation (GO:0007292) | 4.64538877 |
| 25 | sister chromatid cohesion (GO:0007062) | 4.52407909 |
| 26 | DNA synthesis involved in DNA repair (GO:0000731) | 4.48304788 |
| 27 | oocyte maturation (GO:0001556) | 4.35553378 |
| 28 | oocyte development (GO:0048599) | 4.27291894 |
| 29 | regulation of meiosis (GO:0040020) | 4.24477386 |
| 30 | kinetochore organization (GO:0051383) | 4.24127993 |
| 31 | DNA methylation or demethylation (GO:0044728) | 4.24125240 |
| 32 | gene silencing (GO:0016458) | 4.21219869 |
| 33 | heterochromatin organization (GO:0070828) | 4.16490196 |
| 34 | DNA strand elongation involved in DNA replication (GO:0006271) | 4.06893921 |
| 35 | meiotic cell cycle (GO:0051321) | 4.05869855 |
| 36 | DNA replication-dependent nucleosome assembly (GO:0006335) | 4.03232096 |
| 37 | DNA replication-dependent nucleosome organization (GO:0034723) | 4.03232096 |
| 38 | mitotic metaphase plate congression (GO:0007080) | 4.01231684 |
| 39 | DNA replication checkpoint (GO:0000076) | 4.01179010 |
| 40 | kinetochore assembly (GO:0051382) | 3.99698834 |
| 41 | metaphase plate congression (GO:0051310) | 3.96465791 |
| 42 | telomere maintenance via semi-conservative replication (GO:0032201) | 3.95671225 |
| 43 | somatic hypermutation of immunoglobulin genes (GO:0016446) | 3.92150766 |
| 44 | somatic diversification of immune receptors via somatic mutation (GO:0002566) | 3.92150766 |
| 45 | DNA strand elongation (GO:0022616) | 3.88888928 |
| 46 | sister chromatid segregation (GO:0000819) | 3.84191096 |
| 47 | regulation of histone H3-K9 methylation (GO:0051570) | 3.79257252 |
| 48 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.78612007 |
| 49 | mitotic sister chromatid cohesion (GO:0007064) | 3.78309129 |
| 50 | resolution of meiotic recombination intermediates (GO:0000712) | 3.76511573 |
| 51 | positive regulation of translational initiation (GO:0045948) | 3.74466540 |
| 52 | pore complex assembly (GO:0046931) | 3.74166538 |
| 53 | chromatin remodeling at centromere (GO:0031055) | 3.72612683 |
| 54 | protein localization to kinetochore (GO:0034501) | 3.67491835 |
| 55 | DNA unwinding involved in DNA replication (GO:0006268) | 3.64444645 |
| 56 | synapsis (GO:0007129) | 3.62672861 |
| 57 | inner cell mass cell proliferation (GO:0001833) | 3.59571024 |
| 58 | mitotic spindle assembly checkpoint (GO:0007094) | 3.56896350 |
| 59 | spindle checkpoint (GO:0031577) | 3.55288187 |
| 60 | spindle assembly checkpoint (GO:0071173) | 3.54637507 |
| 61 | protein K6-linked ubiquitination (GO:0085020) | 3.53772222 |
| 62 | DNA modification (GO:0006304) | 3.52851230 |
| 63 | regulation of double-strand break repair via homologous recombination (GO:0010569) | 3.52649442 |
| 64 | DNA replication initiation (GO:0006270) | 3.52044939 |
| 65 | mitotic nuclear envelope disassembly (GO:0007077) | 3.52035941 |
| 66 | negative regulation of chromosome segregation (GO:0051985) | 3.50645934 |
| 67 | mitotic spindle checkpoint (GO:0071174) | 3.49772800 |
| 68 | regulation of chromosome segregation (GO:0051983) | 3.49327088 |
| 69 | DNA replication-independent nucleosome organization (GO:0034724) | 3.46693169 |
| 70 | DNA replication-independent nucleosome assembly (GO:0006336) | 3.46693169 |
| 71 | negative regulation of mitotic sister chromatid separation (GO:2000816) | 3.46543955 |
| 72 | negative regulation of mitotic sister chromatid segregation (GO:0033048) | 3.46543955 |
| 73 | negative regulation of mitotic metaphase/anaphase transition (GO:0045841) | 3.46543955 |
| 74 | negative regulation of sister chromatid segregation (GO:0033046) | 3.46543955 |
| 75 | DNA double-strand break processing (GO:0000729) | 3.46364454 |
| 76 | DNA ligation (GO:0006266) | 3.45844877 |
| 77 | regulation of DNA endoreduplication (GO:0032875) | 3.45603591 |
| 78 | protein localization to chromosome (GO:0034502) | 3.45272925 |
| 79 | negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100) | 3.43963093 |
| 80 | histone exchange (GO:0043486) | 3.43432069 |
| 81 | positive regulation of male gonad development (GO:2000020) | 3.42281664 |
| 82 | regulation of meiotic cell cycle (GO:0051445) | 3.41003825 |
| 83 | replication fork processing (GO:0031297) | 3.39969409 |
| 84 | sex differentiation (GO:0007548) | 3.39924540 |
| 85 | mitotic recombination (GO:0006312) | 3.39320360 |
| 86 | regulation of mitotic metaphase/anaphase transition (GO:0030071) | 3.38882405 |
| 87 | telomere maintenance via recombination (GO:0000722) | 3.38736453 |
| 88 | negative regulation of DNA-dependent DNA replication (GO:2000104) | 3.37672659 |
| 89 | regulation of metaphase/anaphase transition of cell cycle (GO:1902099) | 3.37062228 |
| 90 | protein localization to chromosome, centromeric region (GO:0071459) | 3.36711027 |
| 91 | regulation of attachment of spindle microtubules to kinetochore (GO:0051988) | 3.35735742 |
| 92 | regulation of sister chromatid segregation (GO:0033045) | 3.34417725 |
| 93 | regulation of mitotic sister chromatid separation (GO:0010965) | 3.34417725 |
| 94 | regulation of mitotic sister chromatid segregation (GO:0033047) | 3.34417725 |
| 95 | nuclear envelope disassembly (GO:0051081) | 3.34222803 |
| 96 | membrane disassembly (GO:0030397) | 3.34222803 |
| 97 | negative regulation of retinoic acid receptor signaling pathway (GO:0048387) | 3.31914194 |
| 98 | nucleotide-excision repair, DNA gap filling (GO:0006297) | 3.30606861 |
| 99 | negative regulation of meiotic cell cycle (GO:0051447) | 3.30583260 |
| 100 | chromosome segregation (GO:0007059) | 3.26920557 |
| 101 | negative regulation of nuclear division (GO:0051784) | 3.26851894 |
| 102 | chromosome organization (GO:0051276) | 3.24336454 |
| 103 | mitotic sister chromatid segregation (GO:0000070) | 3.24095398 |
| 104 | double-strand break repair via nonhomologous end joining (GO:0006303) | 3.23663635 |
| 105 | non-recombinational repair (GO:0000726) | 3.23663635 |
| 106 | regulation of double-strand break repair (GO:2000779) | 3.23296101 |
| 107 | establishment of integrated proviral latency (GO:0075713) | 3.23149290 |
| 108 | CENP-A containing nucleosome assembly (GO:0034080) | 3.22953420 |
| 109 | histone H2A acetylation (GO:0043968) | 3.19346092 |
| 110 | proteasome assembly (GO:0043248) | 3.16766843 |
| 111 | histone H3-K9 methylation (GO:0051567) | 3.15715425 |
| 112 | histone H4-K12 acetylation (GO:0043983) | 3.15708415 |
| 113 | chromatin assembly or disassembly (GO:0006333) | 3.14450468 |
| 114 | purine nucleobase biosynthetic process (GO:0009113) | 3.14273618 |
| 115 | regulation of centriole replication (GO:0046599) | 3.14268164 |
| 116 | regulation of sister chromatid cohesion (GO:0007063) | 3.13898171 |
| 117 | DNA packaging (GO:0006323) | 3.13592328 |
| 118 | positive regulation of mitotic sister chromatid separation (GO:1901970) | 3.12506640 |
| 119 | positive regulation of mitotic metaphase/anaphase transition (GO:0045842) | 3.12506640 |
| 120 | positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101) | 3.12506640 |
| 121 | DNA topological change (GO:0006265) | 3.06189766 |
| 122 | nucleobase biosynthetic process (GO:0046112) | 3.01423209 |
| 123 | DNA damage response, detection of DNA damage (GO:0042769) | 2.96189215 |
| 124 | DNA catabolic process, exonucleolytic (GO:0000738) | 2.95000683 |
| 125 | maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005) | 2.92880671 |
| 126 | IMP biosynthetic process (GO:0006188) | 2.91424365 |
| 127 | regulation of nuclear cell cycle DNA replication (GO:0033262) | 2.91319262 |
| 128 | negative regulation of DNA recombination (GO:0045910) | 2.90850026 |
| 129 | regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266) | 2.90157004 |
| 130 | regulation of mitotic spindle checkpoint (GO:1903504) | 2.90157004 |
| 131 | mismatch repair (GO:0006298) | 2.89147940 |
| 132 | telomere maintenance via telomere lengthening (GO:0010833) | 2.88434350 |
| 133 | ribosome assembly (GO:0042255) | 2.87185482 |
| 134 | ATP-dependent chromatin remodeling (GO:0043044) | 2.86142133 |
| 135 | formation of translation preinitiation complex (GO:0001731) | 2.84159705 |
| 136 | DNA strand renaturation (GO:0000733) | 2.83514239 |
| 137 | isotype switching (GO:0045190) | 2.76179631 |
| 138 | somatic recombination of immunoglobulin genes involved in immune response (GO:0002204) | 2.76179631 |
| 139 | somatic diversification of immunoglobulins involved in immune response (GO:0002208) | 2.76179631 |
| 140 | piRNA metabolic process (GO:0034587) | 12.6051625 |
| 141 | DNA methylation involved in gamete generation (GO:0043046) | 10.0723071 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 5.68371847 |
| 2 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 4.65477867 |
| 3 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 4.25599050 |
| 4 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 3.98475372 |
| 5 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 3.51735308 |
| 6 | AR_21909140_ChIP-Seq_LNCAP_Human | 3.35481963 |
| 7 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.03522440 |
| 8 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 2.93403176 |
| 9 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 2.91563187 |
| 10 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 2.88552055 |
| 11 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 2.78809095 |
| 12 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 2.57375562 |
| 13 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.39372579 |
| 14 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 2.34940343 |
| 15 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 2.33477380 |
| 16 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 2.22291140 |
| 17 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.15843350 |
| 18 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 2.15820312 |
| 19 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 2.15820312 |
| 20 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 2.15820312 |
| 21 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 2.11389735 |
| 22 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 2.00742985 |
| 23 | E2F7_22180533_ChIP-Seq_HELA_Human | 10.0694708 |
| 24 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.97303651 |
| 25 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.95544700 |
| 26 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.94557958 |
| 27 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.92005557 |
| 28 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.85526487 |
| 29 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.83193099 |
| 30 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.79335727 |
| 31 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 1.78645077 |
| 32 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 1.68660141 |
| 33 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.68226643 |
| 34 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.64213832 |
| 35 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.64112693 |
| 36 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.60815106 |
| 37 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.56672569 |
| 38 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.52273626 |
| 39 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.51245303 |
| 40 | VDR_22108803_ChIP-Seq_LS180_Human | 1.50799138 |
| 41 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.50118860 |
| 42 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.47188093 |
| 43 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 1.45350864 |
| 44 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.42026926 |
| 45 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.41676258 |
| 46 | * RNF2_27304074_Chip-Seq_NSC_Mouse | 1.40802527 |
| 47 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.38908058 |
| 48 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.38139887 |
| 49 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.37516438 |
| 50 | * ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.37487130 |
| 51 | * PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.36336352 |
| 52 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 1.35553304 |
| 53 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 1.29960976 |
| 54 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.27207903 |
| 55 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 1.26049534 |
| 56 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.25627953 |
| 57 | VDR_23849224_ChIP-Seq_CD4+_Human | 1.25402839 |
| 58 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 1.25298838 |
| 59 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.24760474 |
| 60 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 1.24272650 |
| 61 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 1.24264397 |
| 62 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.23756770 |
| 63 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.23462164 |
| 64 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.19484030 |
| 65 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.16548016 |
| 66 | CIITA_25753668_ChIP-Seq_RAJI_Human | 1.15775928 |
| 67 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 1.15155128 |
| 68 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.14919237 |
| 69 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.13937698 |
| 70 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 1.13836826 |
| 71 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.12086496 |
| 72 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 1.10389166 |
| 73 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.10165073 |
| 74 | CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.07739852 |
| 75 | FUS_26573619_Chip-Seq_HEK293_Human | 1.06245434 |
| 76 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.04168415 |
| 77 | SALL4_18804426_ChIP-ChIP_MESCs_Mouse | 1.02054015 |
| 78 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.01135972 |
| 79 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.00203481 |
| 80 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 0.97178960 |
| 81 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 0.96978467 |
| 82 | * E2F1_18555785_ChIP-Seq_MESCs_Mouse | 0.96857940 |
| 83 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 0.95877122 |
| 84 | ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 0.94999912 |
| 85 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.93733405 |
| 86 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 0.92356389 |
| 87 | NANOG_21062744_ChIP-ChIP_HESCs_Human | 0.92216755 |
| 88 | EWS_26573619_Chip-Seq_HEK293_Human | 0.92044541 |
| 89 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 0.91759425 |
| 90 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 0.91110481 |
| 91 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 0.90557530 |
| 92 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 0.88776635 |
| 93 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 0.88375193 |
| 94 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 0.87974729 |
| 95 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 0.87771183 |
| 96 | FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human | 0.87058480 |
| 97 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 0.85703479 |
| 98 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 0.85243156 |
| 99 | TP53_22573176_ChIP-Seq_HFKS_Human | 0.84283534 |
| 100 | TFEB_21752829_ChIP-Seq_HELA_Human | 0.83773698 |
| 101 | P300_19829295_ChIP-Seq_ESCs_Human | 0.83246315 |
| 102 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 0.82474953 |
| 103 | ELK1_19687146_ChIP-ChIP_HELA_Human | 0.81833959 |
| 104 | * SOX2_19030024_ChIP-ChIP_MESCs_Mouse | 0.81804404 |
| 105 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 0.81348420 |
| 106 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 0.81028780 |
| 107 | * FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 0.80766680 |
| 108 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 0.80240529 |
| 109 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 0.80092575 |
| 110 | TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 0.80059541 |
| 111 | CHD1_26751641_Chip-Seq_LNCaP_Human | 0.79597309 |
| 112 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 0.77783969 |
| 113 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 0.77651486 |
| 114 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 0.77626157 |
| 115 | DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 0.75536778 |
| 116 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 0.75226270 |
| 117 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 0.75137925 |
| 118 | * NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 0.74826495 |
| 119 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 0.74312283 |
| 120 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 0.74298699 |
| 121 | MYC_22102868_ChIP-Seq_BL_Human | 0.73211517 |
| 122 | LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.71104039 |
| 123 | TRIM28_19339689_ChIP-ChIP_MESCs_Mouse | 0.70400862 |
| 124 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 0.70375719 |
| 125 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 0.70204296 |
| 126 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 0.69903102 |
| 127 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 0.68629644 |
| 128 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 0.68249841 |
| 129 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 0.67265489 |
| 130 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 0.67066695 |
| 131 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.66808184 |
| 132 | CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 0.65886992 |
| 133 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 0.64920023 |
| 134 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 0.63844065 |
| 135 | RCOR2_21632747_ChIP-Seq_MESCs_Mouse | 0.61772147 |
| 136 | REST_19997604_ChIP-ChIP_NEURONS_Mouse | 0.61625948 |
| 137 | ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 0.61604550 |
| 138 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 0.61440000 |
| 139 | TBX5_21415370_ChIP-Seq_HL-1_Mouse | 0.58382432 |
| 140 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 0.57793578 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008877_abnormal_DNA_methylation | 9.46291332 |
| 2 | MP0008995_early_reproductive_senescence | 4.52922221 |
| 3 | MP0010094_abnormal_chromosome_stability | 4.16432051 |
| 4 | MP0002210_abnormal_sex_determination | 3.91686682 |
| 5 | MP0008057_abnormal_DNA_replication | 3.51194023 |
| 6 | MP0001929_abnormal_gametogenesis | 3.34738980 |
| 7 | MP0003111_abnormal_nucleus_morphology | 3.23411758 |
| 8 | MP0008058_abnormal_DNA_repair | 3.23261655 |
| 9 | MP0003786_premature_aging | 3.16606954 |
| 10 | MP0001145_abnormal_male_reproductive | 3.11805013 |
| 11 | MP0003123_paternal_imprinting | 3.10912503 |
| 12 | MP0003693_abnormal_embryo_hatching | 3.06019319 |
| 13 | MP0000653_abnormal_sex_gland | 2.94924075 |
| 14 | MP0003077_abnormal_cell_cycle | 2.89179377 |
| 15 | MP0004957_abnormal_blastocyst_morpholog | 2.74153455 |
| 16 | MP0003698_abnormal_male_reproductive | 2.49347882 |
| 17 | MP0003121_genomic_imprinting | 2.29838104 |
| 18 | MP0008007_abnormal_cellular_replicative | 2.23099490 |
| 19 | MP0009697_abnormal_copulation | 1.95569668 |
| 20 | MP0003787_abnormal_imprinting | 1.91641650 |
| 21 | MP0001119_abnormal_female_reproductive | 1.88973083 |
| 22 | MP0001730_embryonic_growth_arrest | 1.86689442 |
| 23 | MP0008932_abnormal_embryonic_tissue | 1.70897072 |
| 24 | MP0001529_abnormal_vocalization | 1.67935789 |
| 25 | MP0000350_abnormal_cell_proliferation | 1.66106820 |
| 26 | MP0004147_increased_porphyrin_level | 1.63991881 |
| 27 | MP0002161_abnormal_fertility/fecundity | 1.63098563 |
| 28 | MP0010307_abnormal_tumor_latency | 1.61757028 |
| 29 | MP0003136_yellow_coat_color | 1.57168604 |
| 30 | MP0002234_abnormal_pharynx_morphology | 1.53762378 |
| 31 | MP0002938_white_spotting | 1.51380913 |
| 32 | MP0003890_abnormal_embryonic-extraembry | 1.50013861 |
| 33 | MP0008789_abnormal_olfactory_epithelium | 1.48121777 |
| 34 | MP0003718_maternal_effect | 1.47293859 |
| 35 | MP0003699_abnormal_female_reproductive | 1.44523095 |
| 36 | MP0002085_abnormal_embryonic_tissue | 1.37695456 |
| 37 | MP0005451_abnormal_body_composition | 1.36236460 |
| 38 | MP0002084_abnormal_developmental_patter | 1.36041174 |
| 39 | MP0006072_abnormal_retinal_apoptosis | 1.34427594 |
| 40 | MP0001672_abnormal_embryogenesis/_devel | 1.31374645 |
| 41 | MP0005380_embryogenesis_phenotype | 1.31374645 |
| 42 | MP0005076_abnormal_cell_differentiation | 1.29140523 |
| 43 | MP0001697_abnormal_embryo_size | 1.28827842 |
| 44 | MP0003315_abnormal_perineum_morphology | 1.27441294 |
| 45 | MP0010352_gastrointestinal_tract_polyps | 1.27282582 |
| 46 | MP0002102_abnormal_ear_morphology | 1.26522575 |
| 47 | MP0006035_abnormal_mitochondrial_morpho | 1.26055491 |
| 48 | MP0001188_hyperpigmentation | 1.25992447 |
| 49 | MP0004808_abnormal_hematopoietic_stem | 1.25692962 |
| 50 | MP0005394_taste/olfaction_phenotype | 1.25152916 |
| 51 | MP0005499_abnormal_olfactory_system | 1.25152916 |
| 52 | MP0003880_abnormal_central_pattern | 1.21638618 |
| 53 | MP0000049_abnormal_middle_ear | 1.19074921 |
| 54 | MP0003937_abnormal_limbs/digits/tail_de | 1.18014451 |
| 55 | MP0003984_embryonic_growth_retardation | 1.16179581 |
| 56 | MP0002822_catalepsy | 1.15842610 |
| 57 | MP0000647_abnormal_sebaceous_gland | 1.14538246 |
| 58 | MP0002160_abnormal_reproductive_system | 1.14350678 |
| 59 | MP0004133_heterotaxia | 1.13058191 |
| 60 | MP0004197_abnormal_fetal_growth/weight/ | 1.11781330 |
| 61 | MP0000631_abnormal_neuroendocrine_gland | 1.11301454 |
| 62 | MP0001286_abnormal_eye_development | 1.11115939 |
| 63 | MP0002088_abnormal_embryonic_growth/wei | 1.10633408 |
| 64 | MP0005377_hearing/vestibular/ear_phenot | 1.04006192 |
| 65 | MP0003878_abnormal_ear_physiology | 1.04006192 |
| 66 | MP0002086_abnormal_extraembryonic_tissu | 1.03897942 |
| 67 | MP0001915_intracranial_hemorrhage | 1.01887192 |
| 68 | MP0002080_prenatal_lethality | 0.98259235 |
| 69 | MP0002653_abnormal_ependyma_morphology | 0.97025838 |
| 70 | MP0000313_abnormal_cell_death | 0.95652887 |
| 71 | MP0006276_abnormal_autonomic_nervous | 0.92895395 |
| 72 | MP0005647_abnormal_sex_gland | 0.92778720 |
| 73 | MP0009672_abnormal_birth_weight | 0.90915107 |
| 74 | MP0005187_abnormal_penis_morphology | 0.90707302 |
| 75 | MP0002751_abnormal_autonomic_nervous | 0.89899183 |
| 76 | MP0002396_abnormal_hematopoietic_system | 0.89606939 |
| 77 | MP0003646_muscle_fatigue | 0.89568405 |
| 78 | MP0003936_abnormal_reproductive_system | 0.88855909 |
| 79 | MP0002019_abnormal_tumor_incidence | 0.88806816 |
| 80 | MP0005253_abnormal_eye_physiology | 0.87313797 |
| 81 | MP0000569_abnormal_digit_pigmentation | 0.85906689 |
| 82 | MP0003122_maternal_imprinting | 0.84342355 |
| 83 | MP0003943_abnormal_hepatobiliary_system | 0.83510850 |
| 84 | MP0005410_abnormal_fertilization | 0.81839004 |
| 85 | MP0005391_vision/eye_phenotype | 0.80922863 |
| 86 | MP0002111_abnormal_tail_morphology | 0.80557721 |
| 87 | MP0000427_abnormal_hair_cycle | 0.79058491 |
| 88 | MP0003385_abnormal_body_wall | 0.76577645 |
| 89 | MP0006292_abnormal_olfactory_placode | 0.76470917 |
| 90 | MP0005389_reproductive_system_phenotype | 0.75647627 |
| 91 | MP0003567_abnormal_fetal_cardiomyocyte | 0.74912872 |
| 92 | MP0003283_abnormal_digestive_organ | 0.74805185 |
| 93 | MP0005670_abnormal_white_adipose | 0.71746017 |
| 94 | MP0002009_preneoplasia | 0.71729066 |
| 95 | MP0005645_abnormal_hypothalamus_physiol | 0.71266879 |
| 96 | MP0005623_abnormal_meninges_morphology | 0.70725878 |
| 97 | MP0000358_abnormal_cell_content/ | 0.70346210 |
| 98 | MP0010030_abnormal_orbit_morphology | 0.70188075 |
| 99 | MP0003938_abnormal_ear_development | 0.69969929 |
| 100 | MP0000778_abnormal_nervous_system | 0.67635157 |
| 101 | MP0001984_abnormal_olfaction | 0.66879967 |
| 102 | MP0004185_abnormal_adipocyte_glucose | 0.66605818 |
| 103 | MP0006036_abnormal_mitochondrial_physio | 0.66422781 |
| 104 | MP0003861_abnormal_nervous_system | 0.64737899 |
| 105 | MP0000432_abnormal_head_morphology | 0.64649299 |
| 106 | MP0003705_abnormal_hypodermis_morpholog | 0.64603704 |
| 107 | MP0000537_abnormal_urethra_morphology | 0.63660707 |
| 108 | MP0009703_decreased_birth_body | 0.63576183 |
| 109 | MP0003115_abnormal_respiratory_system | 0.63532180 |
| 110 | MP0001293_anophthalmia | 0.63487326 |
| 111 | MP0003119_abnormal_digestive_system | 0.63380365 |
| 112 | MP0008961_abnormal_basal_metabolism | 0.62794921 |
| 113 | MP0002249_abnormal_larynx_morphology | 0.62510508 |
| 114 | MP0002163_abnormal_gland_morphology | 0.62213379 |
| 115 | MP0003755_abnormal_palate_morphology | 0.61309382 |
| 116 | MP0005395_other_phenotype | 0.61186523 |
| 117 | MP0001764_abnormal_homeostasis | 0.60974865 |
| 118 | MP0000383_abnormal_hair_follicle | 0.59636721 |
| 119 | MP0005408_hypopigmentation | 0.59188254 |
| 120 | MP0005621_abnormal_cell_physiology | 0.58943881 |
| 121 | MP0003221_abnormal_cardiomyocyte_apopto | 0.58691741 |
| 122 | MP0003935_abnormal_craniofacial_develop | 0.58481515 |
| 123 | MP0002697_abnormal_eye_size | 0.56750822 |
| 124 | MP0000428_abnormal_craniofacial_morphol | 0.56073332 |
| 125 | MP0003941_abnormal_skin_development | 0.55553396 |
| 126 | MP0000490_abnormal_crypts_of | 0.55222748 |
| 127 | MP0001545_abnormal_hematopoietic_system | 0.54323820 |
| 128 | MP0005397_hematopoietic_system_phenotyp | 0.54323820 |
| 129 | MP0002233_abnormal_nose_morphology | 0.53713094 |
| 130 | MP0001849_ear_inflammation | 0.53083383 |
| 131 | MP0010678_abnormal_skin_adnexa | 0.52326713 |
| 132 | MP0004233_abnormal_muscle_weight | 0.51282392 |
| 133 | MP0005384_cellular_phenotype | 0.51097526 |
| 134 | MP0002092_abnormal_eye_morphology | 0.48807734 |
| 135 | MP0002114_abnormal_axial_skeleton | 0.45598873 |
| 136 | MP0010234_abnormal_vibrissa_follicle | 0.45088005 |
| 137 | MP0002116_abnormal_craniofacial_bone | 0.43507120 |
| 138 | MP0002925_abnormal_cardiovascular_devel | 0.43236451 |
| 139 | MP0009278_abnormal_bone_marrow | 0.41988689 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Azoospermia (HP:0000027) | 7.67066245 |
| 2 | Abnormal spermatogenesis (HP:0008669) | 6.71845146 |
| 3 | Chromsome breakage (HP:0040012) | 5.53899726 |
| 4 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 5.14098939 |
| 5 | Papillary thyroid carcinoma (HP:0002895) | 4.34569634 |
| 6 | Gonadotropin excess (HP:0000837) | 4.17332986 |
| 7 | Facial hemangioma (HP:0000329) | 4.02977181 |
| 8 | Abnormality of the lower motor neuron (HP:0002366) | 3.47013857 |
| 9 | Medulloblastoma (HP:0002885) | 3.41867100 |
| 10 | 11 pairs of ribs (HP:0000878) | 3.40976801 |
| 11 | Male infertility (HP:0003251) | 3.36556386 |
| 12 | Abnormality of chromosome stability (HP:0003220) | 3.31832550 |
| 13 | Abnormality of the labia minora (HP:0012880) | 3.28046257 |
| 14 | Abnormality of the fingertips (HP:0001211) | 3.03266990 |
| 15 | Ectopic kidney (HP:0000086) | 3.02729871 |
| 16 | Meckel diverticulum (HP:0002245) | 2.96204491 |
| 17 | Capillary hemangiomas (HP:0005306) | 2.89898241 |
| 18 | Rhabdomyosarcoma (HP:0002859) | 2.78900816 |
| 19 | Shawl scrotum (HP:0000049) | 2.78774273 |
| 20 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.77138428 |
| 21 | Abnormality of the ileum (HP:0001549) | 2.76176188 |
| 22 | Ankle contracture (HP:0006466) | 2.76016201 |
| 23 | Thyroid carcinoma (HP:0002890) | 2.75764802 |
| 24 | Volvulus (HP:0002580) | 2.73594181 |
| 25 | Ependymoma (HP:0002888) | 2.70230017 |
| 26 | Carpal bone hypoplasia (HP:0001498) | 2.64085001 |
| 27 | Reticulocytopenia (HP:0001896) | 2.64062070 |
| 28 | Supernumerary spleens (HP:0009799) | 2.63005712 |
| 29 | Selective tooth agenesis (HP:0001592) | 2.62248302 |
| 30 | Cortical dysplasia (HP:0002539) | 2.60713318 |
| 31 | Impulsivity (HP:0100710) | 2.57946568 |
| 32 | Patellar aplasia (HP:0006443) | 2.57574489 |
| 33 | Colon cancer (HP:0003003) | 2.54082049 |
| 34 | Abnormality of the preputium (HP:0100587) | 2.52100211 |
| 35 | Triphalangeal thumb (HP:0001199) | 2.47648916 |
| 36 | Sandal gap (HP:0001852) | 2.44797429 |
| 37 | Absent thumb (HP:0009777) | 2.43893776 |
| 38 | Neoplasm of striated muscle (HP:0009728) | 2.41805347 |
| 39 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 2.41259232 |
| 40 | Short 4th metacarpal (HP:0010044) | 2.41259232 |
| 41 | Astrocytoma (HP:0009592) | 2.38966129 |
| 42 | Abnormality of the astrocytes (HP:0100707) | 2.38966129 |
| 43 | Increased nuchal translucency (HP:0010880) | 2.37290401 |
| 44 | Abnormality of cochlea (HP:0000375) | 2.36614566 |
| 45 | Nephroblastoma (Wilms tumor) (HP:0002667) | 2.36614430 |
| 46 | Absent radius (HP:0003974) | 2.36443798 |
| 47 | Short thumb (HP:0009778) | 2.36271497 |
| 48 | Small intestinal stenosis (HP:0012848) | 2.35469137 |
| 49 | Duodenal stenosis (HP:0100867) | 2.35469137 |
| 50 | Abnormality of the carotid arteries (HP:0005344) | 2.34359050 |
| 51 | Metaphyseal cupping (HP:0003021) | 2.32528982 |
| 52 | Aplasia/Hypoplasia of the patella (HP:0006498) | 2.32229606 |
| 53 | Abnormality of chromosome segregation (HP:0002916) | 2.31706091 |
| 54 | Oligodactyly (HP:0012165) | 2.29811897 |
| 55 | Neoplasm of the oral cavity (HP:0100649) | 2.29471327 |
| 56 | Male pseudohermaphroditism (HP:0000037) | 2.28313880 |
| 57 | Abnormality of the renal collecting system (HP:0004742) | 2.27102764 |
| 58 | Long eyelashes (HP:0000527) | 2.26057885 |
| 59 | Aplasia involving forearm bones (HP:0009822) | 2.21495152 |
| 60 | Absent forearm bone (HP:0003953) | 2.21495152 |
| 61 | Intestinal atresia (HP:0011100) | 2.19789087 |
| 62 | Birth length less than 3rd percentile (HP:0003561) | 2.19033070 |
| 63 | Truncal obesity (HP:0001956) | 2.18361532 |
| 64 | Abnormal lung lobation (HP:0002101) | 2.17208696 |
| 65 | Embryonal renal neoplasm (HP:0011794) | 2.16429746 |
| 66 | Cafe-au-lait spot (HP:0000957) | 2.16033686 |
| 67 | Missing ribs (HP:0000921) | 2.15246292 |
| 68 | Shoulder girdle muscle weakness (HP:0003547) | 2.13592495 |
| 69 | Medial flaring of the eyebrow (HP:0010747) | 2.11677542 |
| 70 | Heterotopia (HP:0002282) | 2.10217113 |
| 71 | Aplasia/Hypoplasia involving the carpal bones (HP:0006502) | 2.09921008 |
| 72 | Aplasia/Hypoplasia of the sternum (HP:0006714) | 2.09087561 |
| 73 | Breast hypoplasia (HP:0003187) | 2.08731147 |
| 74 | Prominent nose (HP:0000448) | 2.08593423 |
| 75 | Abnormality of the phalanges of the hallux (HP:0010057) | 2.05534761 |
| 76 | Glioma (HP:0009733) | 2.04994050 |
| 77 | Increased hepatocellular lipid droplets (HP:0006565) | 2.02067521 |
| 78 | Fibular hypoplasia (HP:0003038) | 2.01218585 |
| 79 | Premature ovarian failure (HP:0008209) | 1.99199898 |
| 80 | Duplicated collecting system (HP:0000081) | 1.98850671 |
| 81 | Proximal placement of thumb (HP:0009623) | 1.98747864 |
| 82 | Methylmalonic acidemia (HP:0002912) | 1.98017455 |
| 83 | Pancreatic fibrosis (HP:0100732) | 1.97282953 |
| 84 | Amyotrophic lateral sclerosis (HP:0007354) | 1.95200952 |
| 85 | Broad palm (HP:0001169) | 1.94761565 |
| 86 | Horseshoe kidney (HP:0000085) | 1.94472247 |
| 87 | Myelodysplasia (HP:0002863) | 1.93736688 |
| 88 | Pelvic girdle muscle weakness (HP:0003749) | 1.93716272 |
| 89 | Preaxial hand polydactyly (HP:0001177) | 1.93348316 |
| 90 | Microvesicular hepatic steatosis (HP:0001414) | 1.92852607 |
| 91 | Sloping forehead (HP:0000340) | 1.92760469 |
| 92 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 1.91696211 |
| 93 | Cerebral edema (HP:0002181) | 1.91284317 |
| 94 | Nephronophthisis (HP:0000090) | 1.90222461 |
| 95 | Deviation of the thumb (HP:0009603) | 1.89387489 |
| 96 | Homocystinuria (HP:0002156) | 1.88436174 |
| 97 | Abnormality of homocysteine metabolism (HP:0010919) | 1.88436174 |
| 98 | Pancreatic cysts (HP:0001737) | 1.87660660 |
| 99 | Basal cell carcinoma (HP:0002671) | 1.87259731 |
| 100 | Acute necrotizing encephalopathy (HP:0006965) | 1.86711179 |
| 101 | Acute encephalopathy (HP:0006846) | 1.85751747 |
| 102 | Neoplasm of the colon (HP:0100273) | 1.85469535 |
| 103 | Primary amenorrhea (HP:0000786) | 1.85448132 |
| 104 | Clubbing of toes (HP:0100760) | 1.85372000 |
| 105 | Oligodactyly (hands) (HP:0001180) | 1.85355115 |
| 106 | Upper motor neuron abnormality (HP:0002127) | 1.83049858 |
| 107 | Lipid accumulation in hepatocytes (HP:0006561) | 1.82985654 |
| 108 | Microglossia (HP:0000171) | 1.82138618 |
| 109 | Wrist flexion contracture (HP:0001239) | 1.81131678 |
| 110 | Hyperglycinemia (HP:0002154) | 1.80528742 |
| 111 | Short tibia (HP:0005736) | 1.80379775 |
| 112 | Abnormality of the duodenum (HP:0002246) | 1.79948094 |
| 113 | Gonadal dysgenesis (HP:0000133) | 1.79845050 |
| 114 | Abnormality of DNA repair (HP:0003254) | 1.79098288 |
| 115 | Urethral obstruction (HP:0000796) | 1.78984318 |
| 116 | Abnormal number of incisors (HP:0011064) | 1.78723977 |
| 117 | Abnormality of the aortic arch (HP:0012303) | 1.78312329 |
| 118 | Congenital primary aphakia (HP:0007707) | 1.78046200 |
| 119 | Renovascular hypertension (HP:0100817) | 1.76300979 |
| 120 | Tubulointerstitial nephritis (HP:0001970) | 1.76145432 |
| 121 | Supernumerary ribs (HP:0005815) | 1.74865807 |
| 122 | Abnormal mitochondria in muscle tissue (HP:0008316) | 1.74760712 |
| 123 | Low anterior hairline (HP:0000294) | 1.73882196 |
| 124 | Bilateral microphthalmos (HP:0007633) | 1.73857347 |
| 125 | Relative macrocephaly (HP:0004482) | 1.73606669 |
| 126 | Blepharitis (HP:0000498) | 1.72978999 |
| 127 | Molar tooth sign on MRI (HP:0002419) | 1.72819610 |
| 128 | Abnormality of midbrain morphology (HP:0002418) | 1.72819610 |
| 129 | Acute myeloid leukemia (HP:0004808) | 1.72735698 |
| 130 | Abnormality of methionine metabolism (HP:0010901) | 1.72224395 |
| 131 | Hypoplastic iliac wings (HP:0002866) | 1.71370721 |
| 132 | Morphological abnormality of the inner ear (HP:0011390) | 1.71240465 |
| 133 | Facial cleft (HP:0002006) | 1.70309760 |
| 134 | Increased CSF lactate (HP:0002490) | 1.70033342 |
| 135 | Gastrointestinal atresia (HP:0002589) | 1.69518944 |
| 136 | Sclerocornea (HP:0000647) | 1.69434556 |
| 137 | Bifid tongue (HP:0010297) | 1.69320946 |
| 138 | True hermaphroditism (HP:0010459) | 1.68526209 |
| 139 | Poor coordination (HP:0002370) | 1.68169577 |
| 140 | Astigmatism (HP:0000483) | 1.67290804 |
| 141 | Nephrogenic diabetes insipidus (HP:0009806) | 1.64836461 |
| 142 | Abnormality of alanine metabolism (HP:0010916) | 1.63021159 |
| 143 | Hyperalaninemia (HP:0003348) | 1.63021159 |
| 144 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 1.63021159 |
| 145 | Postaxial foot polydactyly (HP:0001830) | 1.62884468 |
| 146 | Gait imbalance (HP:0002141) | 1.62531950 |
| 147 | Abnormality of the pons (HP:0007361) | 1.61176892 |
| 148 | Embryonal neoplasm (HP:0002898) | 1.58592709 |
| 149 | Rectovaginal fistula (HP:0000143) | 1.58322991 |
| 150 | Rectal fistula (HP:0100590) | 1.58322991 |
| 151 | Genital tract atresia (HP:0001827) | 1.57855514 |
| 152 | Vaginal atresia (HP:0000148) | 1.55330738 |
| 153 | Aganglionic megacolon (HP:0002251) | 1.54016306 |
| 154 | Dandy-Walker malformation (HP:0001305) | 1.52970241 |
| 155 | Multicystic kidney dysplasia (HP:0000003) | 1.52937031 |
| 156 | Drooling (HP:0002307) | 1.52882369 |
| 157 | Abnormality of serum amino acid levels (HP:0003112) | 1.52607702 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | CDK12 | 5.69829753 |
| 2 | CDC7 | 5.66378867 |
| 3 | ACVR1B | 5.50208079 |
| 4 | MKNK2 | 3.54964881 |
| 5 | BCKDK | 3.14036888 |
| 6 | PNCK | 3.09827473 |
| 7 | TSSK6 | 2.79644680 |
| 8 | NEK2 | 2.68059282 |
| 9 | WEE1 | 2.63253188 |
| 10 | TTK | 2.52250465 |
| 11 | PLK4 | 2.43521616 |
| 12 | ZAK | 2.42178343 |
| 13 | MKNK1 | 2.26501347 |
| 14 | STK38L | 2.25847141 |
| 15 | BRD4 | 2.08605489 |
| 16 | NUAK1 | 2.05011731 |
| 17 | TRIM28 | 2.01521881 |
| 18 | PLK1 | 2.01322051 |
| 19 | EIF2AK3 | 1.99787027 |
| 20 | MAP3K6 | 1.85229045 |
| 21 | BRSK2 | 1.78502281 |
| 22 | MAP3K4 | 1.76920920 |
| 23 | LATS1 | 1.71646878 |
| 24 | PRKD3 | 1.66189652 |
| 25 | CHEK2 | 1.65675571 |
| 26 | ATR | 1.63310672 |
| 27 | STK3 | 1.62171114 |
| 28 | CHEK1 | 1.59891884 |
| 29 | CDK7 | 1.51634418 |
| 30 | TAF1 | 1.46379314 |
| 31 | EEF2K | 1.44158433 |
| 32 | CDK9 | 1.43688009 |
| 33 | VRK2 | 1.40879298 |
| 34 | ATM | 1.39739726 |
| 35 | SRPK1 | 1.37766690 |
| 36 | EIF2AK1 | 1.36523547 |
| 37 | MELK | 1.33087033 |
| 38 | CDK19 | 1.28366866 |
| 39 | STK16 | 1.25816676 |
| 40 | CDK8 | 1.22485155 |
| 41 | LATS2 | 1.21934652 |
| 42 | BRSK1 | 1.20674922 |
| 43 | TYRO3 | 1.19881674 |
| 44 | AURKB | 1.18216907 |
| 45 | MAP4K2 | 1.18177949 |
| 46 | STK24 | 1.12467663 |
| 47 | CDK4 | 1.10548939 |
| 48 | PDK4 | 1.07817401 |
| 49 | PDK3 | 1.07817401 |
| 50 | BUB1 | 1.02423426 |
| 51 | PLK3 | 0.96628219 |
| 52 | DYRK3 | 0.93344942 |
| 53 | SCYL2 | 0.92164567 |
| 54 | * CDK2 | 0.88956746 |
| 55 | RPS6KA4 | 0.88813446 |
| 56 | KSR1 | 0.88527411 |
| 57 | CAMK1D | 0.87851644 |
| 58 | DYRK2 | 0.85496426 |
| 59 | NME1 | 0.84034066 |
| 60 | NEK1 | 0.83366114 |
| 61 | * CDK1 | 0.79955728 |
| 62 | ERBB3 | 0.79290794 |
| 63 | MTOR | 0.79124624 |
| 64 | TNIK | 0.78612562 |
| 65 | WNK4 | 0.77007615 |
| 66 | FRK | 0.75470512 |
| 67 | FLT3 | 0.74518281 |
| 68 | EIF2AK2 | 0.72323953 |
| 69 | ERBB4 | 0.71540862 |
| 70 | TGFBR1 | 0.71174642 |
| 71 | STK4 | 0.70393815 |
| 72 | RPS6KB2 | 0.70051720 |
| 73 | PKN2 | 0.69595498 |
| 74 | KSR2 | 0.69304690 |
| 75 | BRAF | 0.68451503 |
| 76 | MET | 0.67166865 |
| 77 | CSNK1G3 | 0.66431528 |
| 78 | PBK | 0.64588530 |
| 79 | PLK2 | 0.63962895 |
| 80 | BMPR1B | 0.62504675 |
| 81 | AURKA | 0.61517998 |
| 82 | CSNK1G2 | 0.60129617 |
| 83 | RIPK1 | 0.59552510 |
| 84 | ICK | 0.59351965 |
| 85 | RET | 0.59020542 |
| 86 | TAOK1 | 0.56754668 |
| 87 | VRK1 | 0.55838627 |
| 88 | EPHA4 | 0.53099147 |
| 89 | MAP3K10 | 0.52756275 |
| 90 | CSNK2A1 | 0.52555936 |
| 91 | GRK1 | 0.52333187 |
| 92 | INSRR | 0.52332299 |
| 93 | MAP2K7 | 0.51616856 |
| 94 | MAP3K9 | 0.51087861 |
| 95 | MAPKAPK3 | 0.50897260 |
| 96 | CASK | 0.50495869 |
| 97 | PRKDC | 0.47027706 |
| 98 | CSNK1D | 0.46973692 |
| 99 | RPS6KA5 | 0.46198776 |
| 100 | MAP2K4 | 0.45915602 |
| 101 | FGFR1 | 0.45356928 |
| 102 | OXSR1 | 0.45140171 |
| 103 | ADRBK2 | 0.44894821 |
| 104 | MAPK14 | 0.44443148 |
| 105 | * GSK3B | 0.44386817 |
| 106 | MUSK | 0.43426330 |
| 107 | RAF1 | 0.42111611 |
| 108 | MAP3K8 | 0.41759583 |
| 109 | MINK1 | 0.41130524 |
| 110 | STK10 | 0.41113649 |
| 111 | WNK3 | 0.40800328 |
| 112 | CSNK1E | 0.40742160 |
| 113 | PRKCG | 0.40511184 |
| 114 | MAPK11 | 0.36619031 |
| 115 | PASK | 0.36265306 |
| 116 | CSNK1G1 | 0.35812058 |
| 117 | CSNK1A1L | 0.35767665 |
| 118 | CHUK | 0.34404544 |
| 119 | CDK3 | 0.33812939 |
| 120 | WNK1 | 0.33373219 |
| 121 | PINK1 | 0.33224363 |
| 122 | CSNK2A2 | 0.33162336 |
| 123 | CDC42BPA | 0.32781971 |
| 124 | CLK1 | 0.32420868 |
| 125 | ALK | 0.32277611 |
| 126 | AKT1 | 0.31845552 |
| 127 | MAPKAPK5 | 0.31581100 |
| 128 | MAPK13 | 0.29732708 |
| 129 | MAPK10 | 0.29389986 |
| 130 | MAPK1 | 0.29256874 |
| 131 | DYRK1A | 0.29219621 |
| 132 | MARK3 | 0.28742935 |
| 133 | CCNB1 | 0.28569559 |
| 134 | RPS6KB1 | 0.26788914 |
| 135 | PDK2 | 0.24131725 |
| 136 | NLK | 0.22712625 |
| 137 | PDGFRB | 0.21873303 |
| 138 | CAMK1G | 0.21746298 |
| 139 | BCR | 0.21648749 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 4.61447830 |
| 2 | Basal transcription factors_Homo sapiens_hsa03022 | 4.53968252 |
| 3 | Cell cycle_Homo sapiens_hsa04110 | 3.74058837 |
| 4 | Mismatch repair_Homo sapiens_hsa03430 | 3.65257723 |
| 5 | DNA replication_Homo sapiens_hsa03030 | 3.63574683 |
| 6 | Homologous recombination_Homo sapiens_hsa03440 | 3.52838900 |
| 7 | RNA transport_Homo sapiens_hsa03013 | 3.32047317 |
| 8 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 3.01894662 |
| 9 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 2.74690444 |
| 10 | RNA polymerase_Homo sapiens_hsa03020 | 2.73526081 |
| 11 | Nucleotide excision repair_Homo sapiens_hsa03420 | 2.70352388 |
| 12 | Spliceosome_Homo sapiens_hsa03040 | 2.58322773 |
| 13 | RNA degradation_Homo sapiens_hsa03018 | 2.58146080 |
| 14 | Base excision repair_Homo sapiens_hsa03410 | 2.41108193 |
| 15 | Non-homologous end-joining_Homo sapiens_hsa03450 | 2.37030832 |
| 16 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 2.05257762 |
| 17 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.00458975 |
| 18 | Ribosome_Homo sapiens_hsa03010 | 1.95991119 |
| 19 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.87295218 |
| 20 | Protein export_Homo sapiens_hsa03060 | 1.84144043 |
| 21 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.79874145 |
| 22 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.70852520 |
| 23 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.66045528 |
| 24 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.59946066 |
| 25 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.58954468 |
| 26 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.51455251 |
| 27 | Lysine degradation_Homo sapiens_hsa00310 | 1.50125127 |
| 28 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.49403912 |
| 29 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 1.45567053 |
| 30 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.43992560 |
| 31 | Parkinsons disease_Homo sapiens_hsa05012 | 1.43332826 |
| 32 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.42845972 |
| 33 | Herpes simplex infection_Homo sapiens_hsa05168 | 1.39905537 |
| 34 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.37678808 |
| 35 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.33460998 |
| 36 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.31027205 |
| 37 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.26633911 |
| 38 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.25559000 |
| 39 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.23938573 |
| 40 | Thyroid cancer_Homo sapiens_hsa05216 | 1.23126139 |
| 41 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.19834746 |
| 42 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.14817395 |
| 43 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 1.12239155 |
| 44 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.12133894 |
| 45 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 1.06322167 |
| 46 | Sulfur relay system_Homo sapiens_hsa04122 | 1.04830577 |
| 47 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 1.02898947 |
| 48 | Adherens junction_Homo sapiens_hsa04520 | 0.97186630 |
| 49 | HTLV-I infection_Homo sapiens_hsa05166 | 0.97028793 |
| 50 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.96567024 |
| 51 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.96041352 |
| 52 | Purine metabolism_Homo sapiens_hsa00230 | 0.92119189 |
| 53 | Proteasome_Homo sapiens_hsa03050 | 0.91020166 |
| 54 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.88817917 |
| 55 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.88790447 |
| 56 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.88737647 |
| 57 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.87045384 |
| 58 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.86674313 |
| 59 | Circadian rhythm_Homo sapiens_hsa04710 | 0.84254074 |
| 60 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.82823076 |
| 61 | Colorectal cancer_Homo sapiens_hsa05210 | 0.82102280 |
| 62 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.80132453 |
| 63 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.78603467 |
| 64 | Carbon metabolism_Homo sapiens_hsa01200 | 0.73993495 |
| 65 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.72716268 |
| 66 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.72460189 |
| 67 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.72139849 |
| 68 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.68669063 |
| 69 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.67101888 |
| 70 | Phototransduction_Homo sapiens_hsa04744 | 0.64249378 |
| 71 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.62869095 |
| 72 | Influenza A_Homo sapiens_hsa05164 | 0.61789597 |
| 73 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.61603114 |
| 74 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.61410719 |
| 75 | Metabolic pathways_Homo sapiens_hsa01100 | 0.60843264 |
| 76 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.60543917 |
| 77 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.60421048 |
| 78 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.59251167 |
| 79 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.57423191 |
| 80 | Peroxisome_Homo sapiens_hsa04146 | 0.55897736 |
| 81 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.54929861 |
| 82 | Pathways in cancer_Homo sapiens_hsa05200 | 0.51344133 |
| 83 | Alzheimers disease_Homo sapiens_hsa05010 | 0.50885497 |
| 84 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.50455953 |
| 85 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.50361380 |
| 86 | Prostate cancer_Homo sapiens_hsa05215 | 0.48511894 |
| 87 | Tight junction_Homo sapiens_hsa04530 | 0.47668631 |
| 88 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.46915698 |
| 89 | Olfactory transduction_Homo sapiens_hsa04740 | 0.44494994 |
| 90 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.43535842 |
| 91 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.40341536 |
| 92 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.39400818 |
| 93 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.38904497 |
| 94 | Nicotine addiction_Homo sapiens_hsa05033 | 0.37549917 |
| 95 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.37274582 |
| 96 | Endometrial cancer_Homo sapiens_hsa05213 | 0.37101906 |
| 97 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.36736860 |
| 98 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.35996795 |
| 99 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.35726103 |
| 100 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.33706869 |
| 101 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.33392672 |
| 102 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.33046499 |
| 103 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.32623951 |
| 104 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.31959626 |
| 105 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.30959155 |
| 106 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.28956283 |
| 107 | Hepatitis B_Homo sapiens_hsa05161 | 0.28947267 |
| 108 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.28516630 |
| 109 | Retinol metabolism_Homo sapiens_hsa00830 | 0.28341020 |
| 110 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.28071449 |
| 111 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.27568028 |
| 112 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.26551573 |
| 113 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.26527164 |
| 114 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.26016727 |
| 115 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.25574325 |
| 116 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.25534647 |
| 117 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.24942696 |
| 118 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.24490596 |
| 119 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.24297784 |
| 120 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.22317964 |
| 121 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.22247391 |
| 122 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.21612274 |
| 123 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.21103109 |
| 124 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.20950871 |
| 125 | Taste transduction_Homo sapiens_hsa04742 | 0.20430413 |
| 126 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.19167700 |
| 127 | Focal adhesion_Homo sapiens_hsa04510 | 0.18697342 |
| 128 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.18697000 |
| 129 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.18130835 |
| 130 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.17933398 |
| 131 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.17844088 |
| 132 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.16836339 |
| 133 | Melanoma_Homo sapiens_hsa05218 | 0.16063967 |
| 134 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.15188360 |
| 135 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.14531719 |
| 136 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.13348758 |
| 137 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.13137415 |
| 138 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.12729201 |
| 139 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.12363576 |
| 140 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.11764072 |
| 141 | Glioma_Homo sapiens_hsa05214 | 0.11698933 |
| 142 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.11411479 |
| 143 | Huntingtons disease_Homo sapiens_hsa05016 | 0.10789333 |
| 144 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.10735359 |
| 145 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.10392165 |
| 146 | Alcoholism_Homo sapiens_hsa05034 | 0.10160329 |
| 147 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.09596876 |
| 148 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.08932710 |
| 149 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.08804431 |
| 150 | Shigellosis_Homo sapiens_hsa05131 | 0.08682733 |
| 151 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.08134546 |
| 152 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.08030067 |
| 153 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.07589201 |
| 154 | Apoptosis_Homo sapiens_hsa04210 | 0.07538837 |
| 155 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.06840621 |

