

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | male meiosis (GO:0007140) | 9.31755943 |
| 2 | regulation of meiosis I (GO:0060631) | 9.31354413 |
| 3 | meiotic nuclear division (GO:0007126) | 8.26537983 |
| 4 | chromosome organization involved in meiosis (GO:0070192) | 7.85930308 |
| 5 | meiotic chromosome segregation (GO:0045132) | 6.63914130 |
| 6 | male meiosis I (GO:0007141) | 6.58146636 |
| 7 | oogenesis (GO:0048477) | 6.12163819 |
| 8 | gene silencing by RNA (GO:0031047) | 6.11147947 |
| 9 | reciprocal meiotic recombination (GO:0007131) | 5.95148878 |
| 10 | reciprocal DNA recombination (GO:0035825) | 5.95148878 |
| 11 | positive regulation of meiosis (GO:0045836) | 5.93755895 |
| 12 | DNA alkylation (GO:0006305) | 5.91491156 |
| 13 | DNA methylation (GO:0006306) | 5.91491156 |
| 14 | meiotic cell cycle process (GO:1903046) | 5.64221782 |
| 15 | regulation of meiotic cell cycle (GO:0051445) | 5.51866107 |
| 16 | meiosis I (GO:0007127) | 5.51713685 |
| 17 | positive regulation of meiotic cell cycle (GO:0051446) | 5.49890974 |
| 18 | negative regulation of meiosis (GO:0045835) | 5.17001894 |
| 19 | nuclear pore complex assembly (GO:0051292) | 5.14857205 |
| 20 | mitotic sister chromatid cohesion (GO:0007064) | 5.13179628 |
| 21 | nuclear pore organization (GO:0006999) | 5.12683316 |
| 22 | kinetochore organization (GO:0051383) | 4.93654681 |
| 23 | kinetochore assembly (GO:0051382) | 4.91946539 |
| 24 | attachment of spindle microtubules to kinetochore (GO:0008608) | 4.88415516 |
| 25 | sister chromatid cohesion (GO:0007062) | 4.83147273 |
| 26 | DNA replication checkpoint (GO:0000076) | 4.80893332 |
| 27 | negative regulation of meiotic cell cycle (GO:0051447) | 4.78690942 |
| 28 | heterochromatin organization (GO:0070828) | 4.71870622 |
| 29 | positive regulation of translational initiation (GO:0045948) | 4.71333142 |
| 30 | germ cell migration (GO:0008354) | 4.62759670 |
| 31 | resolution of meiotic recombination intermediates (GO:0000712) | 4.55214707 |
| 32 | DNA methylation or demethylation (GO:0044728) | 4.52693554 |
| 33 | regulation of double-strand break repair via homologous recombination (GO:0010569) | 4.51121089 |
| 34 | ribosomal small subunit assembly (GO:0000028) | 4.47014284 |
| 35 | female gamete generation (GO:0007292) | 4.40027277 |
| 36 | meiotic cell cycle (GO:0051321) | 4.35049613 |
| 37 | oocyte maturation (GO:0001556) | 4.32689108 |
| 38 | gene silencing (GO:0016458) | 4.32370991 |
| 39 | folic acid transport (GO:0015884) | 4.26177244 |
| 40 | ncRNA 3-end processing (GO:0043628) | 4.24027219 |
| 41 | DNA synthesis involved in DNA repair (GO:0000731) | 4.22333933 |
| 42 | proteasome assembly (GO:0043248) | 4.15763621 |
| 43 | oocyte development (GO:0048599) | 4.10116172 |
| 44 | negative regulation of gene silencing (GO:0060969) | 4.08188439 |
| 45 | pore complex assembly (GO:0046931) | 3.92972528 |
| 46 | somatic hypermutation of immunoglobulin genes (GO:0016446) | 3.89940882 |
| 47 | somatic diversification of immune receptors via somatic mutation (GO:0002566) | 3.89940882 |
| 48 | regulation of DNA endoreduplication (GO:0032875) | 3.85877216 |
| 49 | histone H4-K12 acetylation (GO:0043983) | 3.85387231 |
| 50 | negative regulation of G2/M transition of mitotic cell cycle (GO:0010972) | 3.80743867 |
| 51 | synapsis (GO:0007129) | 3.77953951 |
| 52 | mitotic chromosome condensation (GO:0007076) | 3.75780887 |
| 53 | regulation of meiosis (GO:0040020) | 3.74345843 |
| 54 | metaphase plate congression (GO:0051310) | 3.73131676 |
| 55 | regulation of double-strand break repair (GO:2000779) | 3.72976987 |
| 56 | regulation of Wnt signaling pathway involved in heart development (GO:0003307) | 3.69525008 |
| 57 | DNA modification (GO:0006304) | 3.67258221 |
| 58 | germ cell development (GO:0007281) | 3.63810164 |
| 59 | mitotic spindle assembly checkpoint (GO:0007094) | 3.61207083 |
| 60 | nucleotide transmembrane transport (GO:1901679) | 3.60089830 |
| 61 | negative regulation of chromosome segregation (GO:0051985) | 3.59155585 |
| 62 | formation of translation preinitiation complex (GO:0001731) | 3.58944574 |
| 63 | CENP-A containing nucleosome assembly (GO:0034080) | 3.58457014 |
| 64 | mitotic metaphase plate congression (GO:0007080) | 3.57789617 |
| 65 | spindle assembly checkpoint (GO:0071173) | 3.56312021 |
| 66 | chromatin remodeling at centromere (GO:0031055) | 3.56240859 |
| 67 | mitotic spindle checkpoint (GO:0071174) | 3.55657663 |
| 68 | negative regulation of mitotic metaphase/anaphase transition (GO:0045841) | 3.55270989 |
| 69 | negative regulation of sister chromatid segregation (GO:0033046) | 3.55270989 |
| 70 | negative regulation of mitotic sister chromatid separation (GO:2000816) | 3.55270989 |
| 71 | negative regulation of mitotic sister chromatid segregation (GO:0033048) | 3.55270989 |
| 72 | DNA replication-dependent nucleosome organization (GO:0034723) | 3.53173833 |
| 73 | DNA replication-dependent nucleosome assembly (GO:0006335) | 3.53173833 |
| 74 | DNA catabolic process, exonucleolytic (GO:0000738) | 3.52542369 |
| 75 | regulation of chromosome segregation (GO:0051983) | 3.46270023 |
| 76 | melanin biosynthetic process (GO:0042438) | 3.42978911 |
| 77 | negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100) | 3.42899516 |
| 78 | embryonic foregut morphogenesis (GO:0048617) | 3.38612903 |
| 79 | negative regulation of cell cycle G2/M phase transition (GO:1902750) | 3.38593048 |
| 80 | fusion of sperm to egg plasma membrane (GO:0007342) | 3.38357683 |
| 81 | N-terminal protein amino acid acetylation (GO:0006474) | 3.36424375 |
| 82 | spermatid development (GO:0007286) | 3.35226322 |
| 83 | regulation of mitotic metaphase/anaphase transition (GO:0030071) | 3.33823030 |
| 84 | protein K6-linked ubiquitination (GO:0085020) | 3.33362750 |
| 85 | chromosome organization (GO:0051276) | 3.33180329 |
| 86 | regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266) | 3.32935410 |
| 87 | regulation of mitotic spindle checkpoint (GO:1903504) | 3.32935410 |
| 88 | positive regulation of male gonad development (GO:2000020) | 3.32443907 |
| 89 | spindle checkpoint (GO:0031577) | 3.29737590 |
| 90 | negative regulation of nuclear division (GO:0051784) | 3.28250322 |
| 91 | regulation of sister chromatid segregation (GO:0033045) | 3.25825360 |
| 92 | regulation of mitotic sister chromatid separation (GO:0010965) | 3.25825360 |
| 93 | regulation of mitotic sister chromatid segregation (GO:0033047) | 3.25825360 |
| 94 | regulation of metaphase/anaphase transition of cell cycle (GO:1902099) | 3.24750709 |
| 95 | telomere maintenance via telomerase (GO:0007004) | 3.23130646 |
| 96 | microtubule depolymerization (GO:0007019) | 3.21994838 |
| 97 | DNA unwinding involved in DNA replication (GO:0006268) | 3.19491187 |
| 98 | inner cell mass cell proliferation (GO:0001833) | 3.19377835 |
| 99 | lymphangiogenesis (GO:0001946) | 3.18736995 |
| 100 | snRNA processing (GO:0016180) | 3.18118516 |
| 101 | mRNA export from nucleus (GO:0006406) | 3.14253542 |
| 102 | male sex determination (GO:0030238) | 3.13549434 |
| 103 | histone exchange (GO:0043486) | 3.13438008 |
| 104 | pre-miRNA processing (GO:0031054) | 3.12857537 |
| 105 | regulation of centriole replication (GO:0046599) | 3.10781218 |
| 106 | nuclear division (GO:0000280) | 3.10455297 |
| 107 | male gamete generation (GO:0048232) | 3.10381622 |
| 108 | DNA replication-independent nucleosome assembly (GO:0006336) | 3.10106215 |
| 109 | DNA replication-independent nucleosome organization (GO:0034724) | 3.10106215 |
| 110 | spermatogenesis (GO:0007283) | 3.10004476 |
| 111 | sex differentiation (GO:0007548) | 3.07841596 |
| 112 | regulation of posttranscriptional gene silencing (GO:0060147) | 3.06484155 |
| 113 | regulation of gene silencing by miRNA (GO:0060964) | 3.06484155 |
| 114 | regulation of gene silencing by RNA (GO:0060966) | 3.06484155 |
| 115 | acrosome reaction (GO:0007340) | 3.05056774 |
| 116 | binding of sperm to zona pellucida (GO:0007339) | 3.03992843 |
| 117 | RNA export from nucleus (GO:0006405) | 3.03546117 |
| 118 | melanin metabolic process (GO:0006582) | 3.01893534 |
| 119 | snRNA metabolic process (GO:0016073) | 3.00214630 |
| 120 | positive regulation of catenin import into nucleus (GO:0035413) | 2.98851952 |
| 121 | negative regulation of calcium ion-dependent exocytosis (GO:0045955) | 2.98110938 |
| 122 | regulation of histone H3-K9 methylation (GO:0051570) | 2.97396246 |
| 123 | regulation of translational initiation (GO:0006446) | 2.93582564 |
| 124 | negative regulation of potassium ion transmembrane transporter activity (GO:1901017) | 2.89139014 |
| 125 | blastocyst development (GO:0001824) | 2.85331699 |
| 126 | embryonic body morphogenesis (GO:0010172) | 2.82051294 |
| 127 | protein maturation by protein folding (GO:0022417) | 2.76891319 |
| 128 | negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518) | 2.70309641 |
| 129 | negative regulation of potassium ion transmembrane transport (GO:1901380) | 2.69805780 |
| 130 | mesenchyme development (GO:0060485) | 2.66553623 |
| 131 | telomere maintenance via semi-conservative replication (GO:0032201) | 2.66256106 |
| 132 | seminiferous tubule development (GO:0072520) | 2.65712020 |
| 133 | negative regulation of cell division (GO:0051782) | 2.64147828 |
| 134 | intra-S DNA damage checkpoint (GO:0031573) | 2.62633356 |
| 135 | plasma membrane fusion (GO:0045026) | 2.61202173 |
| 136 | piRNA metabolic process (GO:0034587) | 14.8544025 |
| 137 | gonadal mesoderm development (GO:0007506) | 14.2881831 |
| 138 | DNA methylation involved in gamete generation (GO:0043046) | 12.1646277 |
| 139 | synaptonemal complex assembly (GO:0007130) | 11.3572581 |
| 140 | synaptonemal complex organization (GO:0070193) | 10.3801872 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E2F7_22180533_ChIP-Seq_HELA_Human | 8.89051585 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 6.87097271 |
| 3 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 5.86181252 |
| 4 | IGF1R_20145208_ChIP-Seq_DFB_Human | 4.71073371 |
| 5 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 4.55239196 |
| 6 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 3.93299707 |
| 7 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 3.85139170 |
| 8 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 3.45756466 |
| 9 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 3.30747824 |
| 10 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 3.11765377 |
| 11 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 2.77503701 |
| 12 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 2.73799222 |
| 13 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.71689519 |
| 14 | AR_21909140_ChIP-Seq_LNCAP_Human | 2.65896205 |
| 15 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 2.57239597 |
| 16 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.39868296 |
| 17 | RNF2_27304074_Chip-Seq_NSC_Mouse | 2.34675411 |
| 18 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 2.26541535 |
| 19 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 2.26541535 |
| 20 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 2.26541535 |
| 21 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.15946078 |
| 22 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 2.15049134 |
| 23 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.10887747 |
| 24 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.10624005 |
| 25 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 2.04633319 |
| 26 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.96855763 |
| 27 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.94368028 |
| 28 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.94035694 |
| 29 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.93030125 |
| 30 | VDR_22108803_ChIP-Seq_LS180_Human | 1.89285031 |
| 31 | * HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 1.85718518 |
| 32 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.78277418 |
| 33 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.69737871 |
| 34 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.68413273 |
| 35 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.60283913 |
| 36 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.57787456 |
| 37 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 1.57516251 |
| 38 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.53736376 |
| 39 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.49850503 |
| 40 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 1.46504627 |
| 41 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.42194081 |
| 42 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.41047524 |
| 43 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.39005247 |
| 44 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.37889045 |
| 45 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 1.37600994 |
| 46 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.35088569 |
| 47 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.34878774 |
| 48 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.34235030 |
| 49 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.32334636 |
| 50 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.30244373 |
| 51 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.27429597 |
| 52 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.27351357 |
| 53 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 1.25383752 |
| 54 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.23823830 |
| 55 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.23170718 |
| 56 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.18316953 |
| 57 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 1.18043644 |
| 58 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.17774589 |
| 59 | VDR_23849224_ChIP-Seq_CD4+_Human | 1.14824984 |
| 60 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.13794060 |
| 61 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.09895402 |
| 62 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.05976651 |
| 63 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.05144040 |
| 64 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 1.04275227 |
| 65 | RCOR2_21632747_ChIP-Seq_MESCs_Mouse | 1.03394819 |
| 66 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.03314246 |
| 67 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.03284767 |
| 68 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.03120418 |
| 69 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 1.02833050 |
| 70 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.02464520 |
| 71 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.01941120 |
| 72 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.00186330 |
| 73 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 0.99821461 |
| 74 | TAF15_26573619_Chip-Seq_HEK293_Human | 0.97349827 |
| 75 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 0.96823024 |
| 76 | GATA3_20176728_ChIP-ChIP_TSCs_Mouse | 0.95946792 |
| 77 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 0.95759175 |
| 78 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 0.95758955 |
| 79 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 0.95624347 |
| 80 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 0.94882401 |
| 81 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 0.94720261 |
| 82 | HTT_18923047_ChIP-ChIP_STHdh_Human | 0.94613830 |
| 83 | EWS_26573619_Chip-Seq_HEK293_Human | 0.93370639 |
| 84 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 0.93170581 |
| 85 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 0.92392872 |
| 86 | CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse | 0.91728291 |
| 87 | IRF1_19129219_ChIP-ChIP_H3396_Human | 0.89477493 |
| 88 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.88828717 |
| 89 | * CBX2_27304074_Chip-Seq_ESCs_Mouse | 0.88748073 |
| 90 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 0.87106585 |
| 91 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 0.86391588 |
| 92 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 0.85224484 |
| 93 | REST_19997604_ChIP-ChIP_NEURONS_Mouse | 0.85008381 |
| 94 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 0.84346396 |
| 95 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 0.84213237 |
| 96 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 0.83850515 |
| 97 | TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse | 0.83492162 |
| 98 | FUS_26573619_Chip-Seq_HEK293_Human | 0.83017700 |
| 99 | TTF2_22483619_ChIP-Seq_HELA_Human | 0.82742628 |
| 100 | TRIM28_19339689_ChIP-ChIP_MESCs_Mouse | 0.82280656 |
| 101 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 0.81725573 |
| 102 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 0.81710314 |
| 103 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 0.81064669 |
| 104 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 0.81032881 |
| 105 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 0.80127377 |
| 106 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 0.79466470 |
| 107 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 0.79366323 |
| 108 | GATA3_26560356_Chip-Seq_TH1_Human | 0.78815873 |
| 109 | BCAT_22108803_ChIP-Seq_LS180_Human | 0.78807505 |
| 110 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 0.78340379 |
| 111 | NANOG_16518401_ChIP-PET_MESCs_Mouse | 0.78253778 |
| 112 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 0.78212002 |
| 113 | ELK1_19687146_ChIP-ChIP_HELA_Human | 0.77705149 |
| 114 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 0.72541844 |
| 115 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 0.72472778 |
| 116 | FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human | 0.72042445 |
| 117 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 0.69867447 |
| 118 | TFEB_21752829_ChIP-Seq_HELA_Human | 0.69507116 |
| 119 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 0.69432765 |
| 120 | ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 0.66625517 |
| 121 | ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 0.65602619 |
| 122 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 0.64056529 |
| 123 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 0.63259959 |
| 124 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 0.62593277 |
| 125 | TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 0.60327725 |
| 126 | CIITA_25753668_ChIP-Seq_RAJI_Human | 0.60218897 |
| 127 | DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 0.59923427 |
| 128 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 0.59398499 |
| 129 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 0.58633831 |
| 130 | NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse | 0.58469806 |
| 131 | TBX5_21415370_ChIP-Seq_HL-1_Mouse | 0.58409322 |
| 132 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 0.58104546 |
| 133 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 0.57831441 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008877_abnormal_DNA_methylation | 9.99487666 |
| 2 | MP0008995_early_reproductive_senescence | 6.72366323 |
| 3 | MP0010368_abnormal_lymphatic_system | 5.82400439 |
| 4 | MP0003786_premature_aging | 4.25451214 |
| 5 | MP0002210_abnormal_sex_determination | 4.24354564 |
| 6 | MP0010094_abnormal_chromosome_stability | 4.07279796 |
| 7 | MP0001929_abnormal_gametogenesis | 3.44875119 |
| 8 | MP0008058_abnormal_DNA_repair | 3.42550550 |
| 9 | MP0001145_abnormal_male_reproductive | 3.37342083 |
| 10 | MP0003123_paternal_imprinting | 3.13543198 |
| 11 | MP0008260_abnormal_autophagy | 3.13321096 |
| 12 | MP0004147_increased_porphyrin_level | 3.03656305 |
| 13 | MP0000653_abnormal_sex_gland | 3.02059775 |
| 14 | MP0003111_abnormal_nucleus_morphology | 2.83480696 |
| 15 | MP0001188_hyperpigmentation | 2.82824231 |
| 16 | MP0003698_abnormal_male_reproductive | 2.82595736 |
| 17 | MP0005171_absent_coat_pigmentation | 2.58006097 |
| 18 | MP0005174_abnormal_tail_pigmentation | 2.55854176 |
| 19 | MP0000372_irregular_coat_pigmentation | 2.37093527 |
| 20 | MP0003693_abnormal_embryo_hatching | 2.36427789 |
| 21 | MP0004957_abnormal_blastocyst_morpholog | 2.32006679 |
| 22 | MP0003077_abnormal_cell_cycle | 2.29326555 |
| 23 | MP0003806_abnormal_nucleotide_metabolis | 2.27475761 |
| 24 | MP0003646_muscle_fatigue | 2.20344579 |
| 25 | MP0001879_abnormal_lymphatic_vessel | 2.10079748 |
| 26 | MP0008057_abnormal_DNA_replication | 2.02790757 |
| 27 | MP0003183_abnormal_peptide_metabolism | 2.00926111 |
| 28 | MP0008932_abnormal_embryonic_tissue | 1.73543090 |
| 29 | MP0003186_abnormal_redox_activity | 1.73250183 |
| 30 | MP0002161_abnormal_fertility/fecundity | 1.58824940 |
| 31 | MP0005623_abnormal_meninges_morphology | 1.57177070 |
| 32 | MP0004808_abnormal_hematopoietic_stem | 1.55959492 |
| 33 | MP0001119_abnormal_female_reproductive | 1.54466905 |
| 34 | MP0003121_genomic_imprinting | 1.51911415 |
| 35 | MP0001730_embryonic_growth_arrest | 1.50184903 |
| 36 | MP0005377_hearing/vestibular/ear_phenot | 1.44477528 |
| 37 | MP0003878_abnormal_ear_physiology | 1.44477528 |
| 38 | MP0000462_abnormal_digestive_system | 1.43399272 |
| 39 | MP0005409_darkened_coat_color | 1.42603699 |
| 40 | MP0001177_atelectasis | 1.39925545 |
| 41 | MP0005075_abnormal_melanosome_morpholog | 1.39550429 |
| 42 | MP0000678_abnormal_parathyroid_gland | 1.37622614 |
| 43 | MP0003890_abnormal_embryonic-extraembry | 1.36768858 |
| 44 | MP0005058_abnormal_lysosome_morphology | 1.36750823 |
| 45 | MP0002102_abnormal_ear_morphology | 1.36371416 |
| 46 | MP0010352_gastrointestinal_tract_polyps | 1.35584600 |
| 47 | MP0010307_abnormal_tumor_latency | 1.34961056 |
| 48 | MP0008007_abnormal_cellular_replicative | 1.31343637 |
| 49 | MP0005408_hypopigmentation | 1.28985467 |
| 50 | MP0000350_abnormal_cell_proliferation | 1.27752234 |
| 51 | MP0005410_abnormal_fertilization | 1.22173571 |
| 52 | MP0006035_abnormal_mitochondrial_morpho | 1.20431129 |
| 53 | MP0001293_anophthalmia | 1.20106755 |
| 54 | MP0002877_abnormal_melanocyte_morpholog | 1.17670870 |
| 55 | MP0005076_abnormal_cell_differentiation | 1.10236571 |
| 56 | MP0003787_abnormal_imprinting | 1.09101903 |
| 57 | MP0004215_abnormal_myocardial_fiber | 1.06643262 |
| 58 | MP0000358_abnormal_cell_content/ | 1.06377160 |
| 59 | MP0003943_abnormal_hepatobiliary_system | 1.05552673 |
| 60 | MP0004197_abnormal_fetal_growth/weight/ | 1.05412305 |
| 61 | MP0003699_abnormal_female_reproductive | 1.04311071 |
| 62 | MP0009379_abnormal_foot_pigmentation | 1.03569049 |
| 63 | MP0000015_abnormal_ear_pigmentation | 0.99264195 |
| 64 | MP0009250_abnormal_appendicular_skeleto | 0.98137271 |
| 65 | MP0002085_abnormal_embryonic_tissue | 0.97762269 |
| 66 | MP0003959_abnormal_lean_body | 0.96738873 |
| 67 | MP0002084_abnormal_developmental_patter | 0.96208645 |
| 68 | MP0002009_preneoplasia | 0.93012006 |
| 69 | MP0002095_abnormal_skin_pigmentation | 0.92379136 |
| 70 | MP0005670_abnormal_white_adipose | 0.92120660 |
| 71 | MP0001697_abnormal_embryo_size | 0.91017342 |
| 72 | MP0005330_cardiomyopathy | 0.90546023 |
| 73 | MP0010234_abnormal_vibrissa_follicle | 0.88756545 |
| 74 | MP0001661_extended_life_span | 0.87797175 |
| 75 | MP0002075_abnormal_coat/hair_pigmentati | 0.86924820 |
| 76 | MP0004233_abnormal_muscle_weight | 0.86910541 |
| 77 | MP0005380_embryogenesis_phenotype | 0.86183269 |
| 78 | MP0001672_abnormal_embryogenesis/_devel | 0.86183269 |
| 79 | MP0002160_abnormal_reproductive_system | 0.83988503 |
| 80 | MP0000427_abnormal_hair_cycle | 0.82375265 |
| 81 | MP0000371_diluted_coat_color | 0.82000030 |
| 82 | MP0003937_abnormal_limbs/digits/tail_de | 0.81156191 |
| 83 | MP0009672_abnormal_birth_weight | 0.80279755 |
| 84 | MP0001986_abnormal_taste_sensitivity | 0.79438795 |
| 85 | MP0003984_embryonic_growth_retardation | 0.78897948 |
| 86 | MP0002080_prenatal_lethality | 0.78611565 |
| 87 | MP0001764_abnormal_homeostasis | 0.78281243 |
| 88 | MP0003705_abnormal_hypodermis_morpholog | 0.77593837 |
| 89 | MP0002019_abnormal_tumor_incidence | 0.77518537 |
| 90 | MP0003880_abnormal_central_pattern | 0.73705891 |
| 91 | MP0002088_abnormal_embryonic_growth/wei | 0.71882359 |
| 92 | MP0004885_abnormal_endolymph | 0.71753956 |
| 93 | MP0000313_abnormal_cell_death | 0.70775722 |
| 94 | MP0002233_abnormal_nose_morphology | 0.70676353 |
| 95 | MP0002163_abnormal_gland_morphology | 0.68103118 |
| 96 | MP0009703_decreased_birth_body | 0.67903986 |
| 97 | MP0002735_abnormal_chemical_nociception | 0.67498124 |
| 98 | MP0003567_abnormal_fetal_cardiomyocyte | 0.67102583 |
| 99 | MP0002092_abnormal_eye_morphology | 0.66160019 |
| 100 | MP0005647_abnormal_sex_gland | 0.66086859 |
| 101 | MP0002089_abnormal_postnatal_growth/wei | 0.65907171 |
| 102 | MP0002086_abnormal_extraembryonic_tissu | 0.63838800 |
| 103 | MP0005360_urolithiasis | 0.61968005 |
| 104 | MP0000569_abnormal_digit_pigmentation | 0.61531698 |
| 105 | MP0001186_pigmentation_phenotype | 0.60783939 |
| 106 | MP0002796_impaired_skin_barrier | 0.59315357 |
| 107 | MP0003941_abnormal_skin_development | 0.58982732 |
| 108 | MP0005248_abnormal_Harderian_gland | 0.58607429 |
| 109 | MP0003566_abnormal_cell_adhesion | 0.57902062 |
| 110 | MP0000751_myopathy | 0.57751050 |
| 111 | MP0003936_abnormal_reproductive_system | 0.57731942 |
| 112 | MP0004782_abnormal_surfactant_physiolog | 0.57271944 |
| 113 | MP0003136_yellow_coat_color | 0.56288918 |
| 114 | MP0003315_abnormal_perineum_morphology | 0.54206944 |
| 115 | MP0003718_maternal_effect | 0.53743267 |
| 116 | MP0010678_abnormal_skin_adnexa | 0.53257838 |
| 117 | MP0002269_muscular_atrophy | 0.51918570 |
| 118 | MP0008004_abnormal_stomach_pH | 0.51701981 |
| 119 | MP0003119_abnormal_digestive_system | 0.51329864 |
| 120 | MP0000579_abnormal_nail_morphology | 0.49919248 |
| 121 | MP0005645_abnormal_hypothalamus_physiol | 0.49634365 |
| 122 | MP0002837_dystrophic_cardiac_calcinosis | 0.48839360 |
| 123 | MP0002184_abnormal_innervation | 0.48318712 |
| 124 | MP0006138_congestive_heart_failure | 0.47156501 |
| 125 | MP0002938_white_spotting | 0.46777858 |
| 126 | MP0001191_abnormal_skin_condition | 0.45603550 |
| 127 | MP0003861_abnormal_nervous_system | 0.45578650 |
| 128 | MP0003115_abnormal_respiratory_system | 0.45090186 |
| 129 | MP0002114_abnormal_axial_skeleton | 0.45008695 |
| 130 | MP0008789_abnormal_olfactory_epithelium | 0.44715512 |
| 131 | MP0001529_abnormal_vocalization | 0.43964826 |
| 132 | MP0005621_abnormal_cell_physiology | 0.43682570 |
| 133 | MP0000467_abnormal_esophagus_morphology | 0.43011576 |
| 134 | MP0002697_abnormal_eye_size | 0.42473085 |
| 135 | MP0006292_abnormal_olfactory_placode | 0.42245588 |
| 136 | MP0000377_abnormal_hair_follicle | 0.41563690 |
| 137 | MP0009697_abnormal_copulation | 0.41070976 |
| 138 | MP0000432_abnormal_head_morphology | 0.41067641 |
| 139 | MP0005389_reproductive_system_phenotype | 0.40892240 |
| 140 | MP0005257_abnormal_intraocular_pressure | 0.40036358 |
| 141 | MP0003935_abnormal_craniofacial_develop | 0.39413338 |
| 142 | MP0001915_intracranial_hemorrhage | 0.39229418 |
| 143 | MP0000534_abnormal_ureter_morphology | 0.38994421 |
| 144 | MP0003755_abnormal_palate_morphology | 0.38648682 |
| 145 | MP0010030_abnormal_orbit_morphology | 0.37634989 |
| 146 | MP0005384_cellular_phenotype | 0.37473298 |
| 147 | MP0000490_abnormal_crypts_of | 0.37425239 |
| 148 | MP0002249_abnormal_larynx_morphology | 0.37016750 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal spermatogenesis (HP:0008669) | 9.54242638 |
| 2 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 5.34306634 |
| 3 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 5.34306634 |
| 4 | Chromsome breakage (HP:0040012) | 4.96940797 |
| 5 | Osteomalacia (HP:0002749) | 4.94815757 |
| 6 | Abnormality of the corticospinal tract (HP:0002492) | 4.61186098 |
| 7 | Abnormality of the costochondral junction (HP:0000919) | 4.60009278 |
| 8 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 4.50978231 |
| 9 | Scotoma (HP:0000575) | 4.43606328 |
| 10 | Papillary thyroid carcinoma (HP:0002895) | 4.30690196 |
| 11 | Gonadotropin excess (HP:0000837) | 4.19990985 |
| 12 | Horizontal nystagmus (HP:0000666) | 4.17484741 |
| 13 | Delayed epiphyseal ossification (HP:0002663) | 4.08349026 |
| 14 | Hyperglycinuria (HP:0003108) | 3.86698738 |
| 15 | Facial hemangioma (HP:0000329) | 3.82927710 |
| 16 | Abnormality of the lower motor neuron (HP:0002366) | 3.61548163 |
| 17 | Tubulointerstitial nephritis (HP:0001970) | 3.37820437 |
| 18 | Cutaneous melanoma (HP:0012056) | 3.30154813 |
| 19 | 11 pairs of ribs (HP:0000878) | 3.27381342 |
| 20 | Agnosia (HP:0010524) | 3.19722406 |
| 21 | Abnormality of DNA repair (HP:0003254) | 3.15316030 |
| 22 | Hyperglycinemia (HP:0002154) | 3.06521096 |
| 23 | Abnormality of the labia minora (HP:0012880) | 3.04382054 |
| 24 | Abnormality of chromosome stability (HP:0003220) | 3.03931979 |
| 25 | Capillary hemangiomas (HP:0005306) | 3.01619468 |
| 26 | Ankle contracture (HP:0006466) | 3.01524597 |
| 27 | Ectopic kidney (HP:0000086) | 2.98684763 |
| 28 | Impulsivity (HP:0100710) | 2.88998373 |
| 29 | Broad distal phalanx of finger (HP:0009836) | 2.87733369 |
| 30 | Abnormality of the aortic arch (HP:0012303) | 2.85308895 |
| 31 | Spontaneous abortion (HP:0005268) | 2.81903390 |
| 32 | Thin bony cortex (HP:0002753) | 2.77722902 |
| 33 | Thyroid carcinoma (HP:0002890) | 2.77508541 |
| 34 | Abnormality of the renal collecting system (HP:0004742) | 2.75290084 |
| 35 | Absent thumb (HP:0009777) | 2.73631432 |
| 36 | Microglossia (HP:0000171) | 2.70503343 |
| 37 | Abnormality of glycine metabolism (HP:0010895) | 2.68976402 |
| 38 | Abnormality of serine family amino acid metabolism (HP:0010894) | 2.68976402 |
| 39 | Rhabdomyosarcoma (HP:0002859) | 2.68049951 |
| 40 | Reticulocytopenia (HP:0001896) | 2.64642093 |
| 41 | Carpal bone hypoplasia (HP:0001498) | 2.58619700 |
| 42 | Heterotopia (HP:0002282) | 2.55767749 |
| 43 | Gonadal dysgenesis (HP:0000133) | 2.53341476 |
| 44 | Colon cancer (HP:0003003) | 2.50250793 |
| 45 | Meckel diverticulum (HP:0002245) | 2.50176388 |
| 46 | Rickets (HP:0002748) | 2.48244755 |
| 47 | Abnormality of the phalanges of the hallux (HP:0010057) | 2.46387362 |
| 48 | Oligodactyly (HP:0012165) | 2.46290156 |
| 49 | Abnormal lung lobation (HP:0002101) | 2.44194188 |
| 50 | Increased nuchal translucency (HP:0010880) | 2.42969641 |
| 51 | Enlarged epiphyses (HP:0010580) | 2.41741355 |
| 52 | Septate vagina (HP:0001153) | 2.41424359 |
| 53 | Impaired vibration sensation in the lower limbs (HP:0002166) | 2.41158267 |
| 54 | Supernumerary spleens (HP:0009799) | 2.38532614 |
| 55 | Hypopigmentation of the fundus (HP:0007894) | 2.34347174 |
| 56 | Ependymoma (HP:0002888) | 2.34044751 |
| 57 | Widely patent fontanelles and sutures (HP:0004492) | 2.32841349 |
| 58 | Urinary urgency (HP:0000012) | 2.31942493 |
| 59 | Upper motor neuron abnormality (HP:0002127) | 2.31486004 |
| 60 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.30799069 |
| 61 | Facial cleft (HP:0002006) | 2.29495837 |
| 62 | Shoulder girdle muscle weakness (HP:0003547) | 2.28863017 |
| 63 | Abnormality of the ileum (HP:0001549) | 2.28057966 |
| 64 | Fibular hypoplasia (HP:0003038) | 2.24457409 |
| 65 | Selective tooth agenesis (HP:0001592) | 2.22148503 |
| 66 | Atrophy/Degeneration involving motor neurons (HP:0007373) | 2.21701427 |
| 67 | Pelvic girdle muscle weakness (HP:0003749) | 2.21097681 |
| 68 | Abnormality of the carotid arteries (HP:0005344) | 2.20067317 |
| 69 | Short thumb (HP:0009778) | 2.19877314 |
| 70 | Renovascular hypertension (HP:0100817) | 2.19635628 |
| 71 | Abnormality of the preputium (HP:0100587) | 2.19611742 |
| 72 | Squamous cell carcinoma (HP:0002860) | 2.18961895 |
| 73 | Rectal fistula (HP:0100590) | 2.17523549 |
| 74 | Rectovaginal fistula (HP:0000143) | 2.17523549 |
| 75 | Absent radius (HP:0003974) | 2.17003430 |
| 76 | Vertebral arch anomaly (HP:0008438) | 2.16748209 |
| 77 | Basal cell carcinoma (HP:0002671) | 2.15160605 |
| 78 | Shawl scrotum (HP:0000049) | 2.14776906 |
| 79 | Hand muscle atrophy (HP:0009130) | 2.13610518 |
| 80 | Wide cranial sutures (HP:0010537) | 2.13522789 |
| 81 | Prominent supraorbital ridges (HP:0000336) | 2.13345030 |
| 82 | Aplasia/Hypoplasia of the spleen (HP:0010451) | 2.12611651 |
| 83 | Aplasia/Hypoplasia involving the carpal bones (HP:0006502) | 2.12508422 |
| 84 | Duplicated collecting system (HP:0000081) | 2.11716685 |
| 85 | Aplasia/Hypoplasia of the macula (HP:0008059) | 2.09262093 |
| 86 | Aplasia involving forearm bones (HP:0009822) | 2.08629547 |
| 87 | Absent forearm bone (HP:0003953) | 2.08629547 |
| 88 | Neoplasm of striated muscle (HP:0009728) | 2.07844110 |
| 89 | Duodenal stenosis (HP:0100867) | 2.07699946 |
| 90 | Small intestinal stenosis (HP:0012848) | 2.07699946 |
| 91 | Esophageal neoplasm (HP:0100751) | 2.07433398 |
| 92 | Neoplasm of head and neck (HP:0012288) | 2.07433398 |
| 93 | Metaphyseal irregularity (HP:0003025) | 2.07277768 |
| 94 | Hypokinesia (HP:0002375) | 2.06719750 |
| 95 | Cafe-au-lait spot (HP:0000957) | 2.05629005 |
| 96 | Medulloblastoma (HP:0002885) | 2.05212429 |
| 97 | Breast hypoplasia (HP:0003187) | 2.03899878 |
| 98 | Retinal dysplasia (HP:0007973) | 2.03505772 |
| 99 | Abnormality of the astrocytes (HP:0100707) | 2.03007846 |
| 100 | Astrocytoma (HP:0009592) | 2.03007846 |
| 101 | Freckling (HP:0001480) | 2.02371590 |
| 102 | Birth length less than 3rd percentile (HP:0003561) | 2.00698805 |
| 103 | Azoospermia (HP:0000027) | 11.4171356 |
| 104 | Microvesicular hepatic steatosis (HP:0001414) | 1.99947667 |
| 105 | Urethral obstruction (HP:0000796) | 1.97904140 |
| 106 | Uterine leiomyosarcoma (HP:0002891) | 1.97848216 |
| 107 | Leiomyosarcoma (HP:0100243) | 1.97848216 |
| 108 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 1.97334526 |
| 109 | Short 4th metacarpal (HP:0010044) | 1.97334526 |
| 110 | Amyotrophic lateral sclerosis (HP:0007354) | 1.97173081 |
| 111 | Proximal placement of thumb (HP:0009623) | 1.96579070 |
| 112 | Sandal gap (HP:0001852) | 1.95944065 |
| 113 | Limb-girdle muscle weakness (HP:0003325) | 1.94711963 |
| 114 | Metaphyseal cupping (HP:0003021) | 1.94092105 |
| 115 | Tongue fasciculations (HP:0001308) | 1.94088817 |
| 116 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 1.93976718 |
| 117 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.93976718 |
| 118 | Abnormal protein glycosylation (HP:0012346) | 1.93976718 |
| 119 | Abnormal glycosylation (HP:0012345) | 1.93976718 |
| 120 | Anteriorly placed anus (HP:0001545) | 1.93947024 |
| 121 | Abnormal biliary tract morphology (HP:0012440) | 1.93832447 |
| 122 | Hypoplasia of the uterus (HP:0000013) | 1.92862655 |
| 123 | Rimmed vacuoles (HP:0003805) | 1.91960592 |
| 124 | Broad palm (HP:0001169) | 1.91942259 |
| 125 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.90154802 |
| 126 | Volvulus (HP:0002580) | 1.88040499 |
| 127 | Male infertility (HP:0003251) | 1.86836378 |
| 128 | Flat occiput (HP:0005469) | 1.84735161 |
| 129 | Biliary tract neoplasm (HP:0100574) | 1.84398267 |
| 130 | Glioma (HP:0009733) | 1.83533803 |
| 131 | Neoplasm of the oral cavity (HP:0100649) | 1.83064540 |
| 132 | Duplication of thumb phalanx (HP:0009942) | 1.82733210 |
| 133 | Spinal muscular atrophy (HP:0007269) | 1.82071173 |
| 134 | Hypergonadotropic hypogonadism (HP:0000815) | 1.82027716 |
| 135 | Missing ribs (HP:0000921) | 1.81877316 |
| 136 | Urinary bladder sphincter dysfunction (HP:0002839) | 1.81689147 |
| 137 | Progressive external ophthalmoplegia (HP:0000590) | 1.81486661 |
| 138 | Overlapping toe (HP:0001845) | 1.81151064 |
| 139 | Aplasia/Hypoplasia affecting the retina (HP:0008061) | 1.80817448 |
| 140 | Deviation of the thumb (HP:0009603) | 1.80685281 |
| 141 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 1.80162233 |
| 142 | Neoplasm of the colon (HP:0100273) | 1.79725858 |
| 143 | Redundant skin (HP:0001582) | 1.79256911 |
| 144 | Abnormality of chromosome segregation (HP:0002916) | 1.78656925 |
| 145 | Short tibia (HP:0005736) | 1.78481830 |
| 146 | Abnormality of the musculature of the pelvis (HP:0001469) | 1.78338299 |
| 147 | Abnormality of the hip-girdle musculature (HP:0001445) | 1.78338299 |
| 148 | Muscle fibrillation (HP:0010546) | 1.77093561 |
| 149 | Neoplasm of the rectum (HP:0100743) | 1.76842826 |
| 150 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.75738478 |
| 151 | Horseshoe kidney (HP:0000085) | 1.74903174 |
| 152 | Abnormality of the duodenum (HP:0002246) | 1.74722735 |
| 153 | Beaking of vertebral bodies (HP:0004568) | 1.74003837 |
| 154 | Patellar aplasia (HP:0006443) | 1.73830406 |
| 155 | Spastic paraplegia (HP:0001258) | 1.73735050 |
| 156 | Truncal obesity (HP:0001956) | 1.73482800 |
| 157 | Poor coordination (HP:0002370) | 1.73435163 |
| 158 | Central scotoma (HP:0000603) | 1.72756566 |
| 159 | White forelock (HP:0002211) | 1.71220486 |
| 160 | Premature graying of hair (HP:0002216) | 1.69739191 |
| 161 | Male pseudohermaphroditism (HP:0000037) | 1.69698286 |
| 162 | Supernumerary ribs (HP:0005815) | 1.69605366 |
| 163 | Aplasia/Hypoplasia involving the musculature (HP:0001460) | 1.69565629 |
| 164 | Cortical dysplasia (HP:0002539) | 1.69204395 |
| 165 | Asplenia (HP:0001746) | 1.68869081 |
| 166 | Hyperacusis (HP:0010780) | 1.68543042 |
| 167 | Type I transferrin isoform profile (HP:0003642) | 1.68318975 |
| 168 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 1.66786014 |
| 169 | Wrist flexion contracture (HP:0001239) | 1.66148642 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PNCK | 6.68547972 |
| 2 | ACVR1B | 6.03457507 |
| 3 | CDK19 | 6.00148863 |
| 4 | CDK12 | 5.65802562 |
| 5 | CDC7 | 5.43432876 |
| 6 | STK38L | 3.61827581 |
| 7 | STK24 | 3.29474940 |
| 8 | CASK | 3.04121775 |
| 9 | STK39 | 2.96974101 |
| 10 | WNK4 | 2.93167480 |
| 11 | WEE1 | 2.64928076 |
| 12 | NEK2 | 2.39494552 |
| 13 | KSR2 | 2.14187528 |
| 14 | PLK4 | 2.04360916 |
| 15 | PLK1 | 1.95286243 |
| 16 | PBK | 1.95191531 |
| 17 | EPHA4 | 1.87798504 |
| 18 | NEK1 | 1.80393016 |
| 19 | TTK | 1.76769000 |
| 20 | BRD4 | 1.73199790 |
| 21 | MST1R | 1.73162233 |
| 22 | TAF1 | 1.72477712 |
| 23 | PDK4 | 1.68640727 |
| 24 | PDK3 | 1.68640727 |
| 25 | MATK | 1.67123860 |
| 26 | WNK1 | 1.57585058 |
| 27 | ATR | 1.57439835 |
| 28 | STK16 | 1.54697687 |
| 29 | NTRK3 | 1.52134497 |
| 30 | PASK | 1.52033125 |
| 31 | BRSK2 | 1.51823473 |
| 32 | CHEK1 | 1.51546375 |
| 33 | MKNK2 | 1.51185969 |
| 34 | STK3 | 1.46747574 |
| 35 | MARK3 | 1.45586926 |
| 36 | CHEK2 | 1.40986501 |
| 37 | CDK4 | 1.38176394 |
| 38 | MET | 1.34054887 |
| 39 | CDK7 | 1.32759348 |
| 40 | MELK | 1.24426479 |
| 41 | KIT | 1.21866454 |
| 42 | ATM | 1.21155437 |
| 43 | NEK9 | 1.21149301 |
| 44 | BRSK1 | 1.20573957 |
| 45 | MAP3K4 | 1.20088083 |
| 46 | BRAF | 1.18514336 |
| 47 | MKNK1 | 1.13332570 |
| 48 | CAMK1G | 1.10693295 |
| 49 | EIF2AK3 | 1.09018634 |
| 50 | AURKB | 1.04645212 |
| 51 | PLK3 | 1.02166838 |
| 52 | RAF1 | 1.01794608 |
| 53 | BUB1 | 0.99341276 |
| 54 | GRK7 | 0.99329811 |
| 55 | TYRO3 | 0.98198903 |
| 56 | CSNK1A1L | 0.96925633 |
| 57 | EEF2K | 0.95579349 |
| 58 | TRIM28 | 0.92994655 |
| 59 | PLK2 | 0.89876595 |
| 60 | IRAK3 | 0.85870700 |
| 61 | PKN2 | 0.84989090 |
| 62 | IRAK1 | 0.81197180 |
| 63 | CDK2 | 0.80977796 |
| 64 | MAPK11 | 0.80252659 |
| 65 | CAMK1D | 0.77934905 |
| 66 | CSNK1G3 | 0.77126095 |
| 67 | ICK | 0.76978681 |
| 68 | CDC42BPA | 0.76036971 |
| 69 | SCYL2 | 0.73996886 |
| 70 | CDK1 | 0.73573247 |
| 71 | STK4 | 0.73059709 |
| 72 | PDK2 | 0.72767377 |
| 73 | CSNK1G1 | 0.70859077 |
| 74 | MAP3K1 | 0.68120319 |
| 75 | MAP3K6 | 0.67660640 |
| 76 | NEK6 | 0.66310299 |
| 77 | CSNK1G2 | 0.64090345 |
| 78 | KSR1 | 0.63909478 |
| 79 | BCR | 0.63154609 |
| 80 | TSSK6 | 0.62659346 |
| 81 | ZAK | 0.62560515 |
| 82 | MTOR | 0.60957011 |
| 83 | RPS6KB1 | 0.59069965 |
| 84 | YES1 | 0.57451737 |
| 85 | RIPK1 | 0.54486445 |
| 86 | CLK1 | 0.54253370 |
| 87 | CDK8 | 0.52735752 |
| 88 | AURKA | 0.51668300 |
| 89 | RPS6KB2 | 0.51198419 |
| 90 | PRKDC | 0.50231743 |
| 91 | MAP3K2 | 0.49134190 |
| 92 | BMPR1B | 0.48404090 |
| 93 | RET | 0.48399053 |
| 94 | CDK9 | 0.48295272 |
| 95 | BMX | 0.47802387 |
| 96 | CSNK1D | 0.46430553 |
| 97 | CSNK2A2 | 0.46368780 |
| 98 | CCNB1 | 0.45684336 |
| 99 | SRPK1 | 0.45511889 |
| 100 | GSK3B | 0.44626103 |
| 101 | ALK | 0.44502495 |
| 102 | CSNK1E | 0.42712972 |
| 103 | VRK1 | 0.42640937 |
| 104 | PIM1 | 0.40402132 |
| 105 | PRKD3 | 0.38698438 |
| 106 | STK38 | 0.38087496 |
| 107 | CDK11A | 0.36775883 |
| 108 | LMTK2 | 0.36574654 |
| 109 | CSF1R | 0.36474299 |
| 110 | FLT3 | 0.35888126 |
| 111 | PTK2B | 0.34173580 |
| 112 | MAP3K8 | 0.33633590 |
| 113 | ERBB4 | 0.33419492 |
| 114 | DYRK3 | 0.32667686 |
| 115 | PRKD2 | 0.32131521 |
| 116 | CSNK2A1 | 0.31310926 |
| 117 | CDK6 | 0.31197744 |
| 118 | BCKDK | 0.31182504 |
| 119 | MAP3K3 | 0.30649069 |
| 120 | SGK1 | 0.30150203 |
| 121 | ABL2 | 0.29224314 |
| 122 | MAPK10 | 0.28178533 |
| 123 | TGFBR1 | 0.28014329 |
| 124 | MAPK8 | 0.27903978 |
| 125 | MAPK14 | 0.25405836 |
| 126 | EGFR | 0.24991041 |
| 127 | PDGFRB | 0.24982007 |
| 128 | MAP3K7 | 0.24834133 |
| 129 | PDGFRA | 0.24113040 |
| 130 | RPS6KA1 | 0.22947494 |
| 131 | IGF1R | 0.22619375 |
| 132 | MAP3K10 | 0.22423733 |
| 133 | WNK3 | 0.22196593 |
| 134 | CDK3 | 0.21794932 |
| 135 | MAPKAPK3 | 0.21748980 |
| 136 | PHKG1 | 0.21213691 |
| 137 | PHKG2 | 0.21213691 |
| 138 | PTK6 | 0.20987591 |
| 139 | MAP2K1 | 0.20669974 |
| 140 | PAK4 | 0.20172651 |
| 141 | CDK14 | 0.20081100 |
| 142 | PRKCI | 0.19896013 |
| 143 | LIMK1 | 0.19622098 |
| 144 | PRKCQ | 0.19556981 |
| 145 | AKT1 | 0.19297830 |
| 146 | OXSR1 | 0.18777891 |
| 147 | PTK2 | 0.17898924 |
| 148 | STK11 | 0.16897402 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 5.78291141 |
| 2 | Basal transcription factors_Homo sapiens_hsa03022 | 4.99052315 |
| 3 | Homologous recombination_Homo sapiens_hsa03440 | 4.21387359 |
| 4 | DNA replication_Homo sapiens_hsa03030 | 3.76595597 |
| 5 | Mismatch repair_Homo sapiens_hsa03430 | 3.47145427 |
| 6 | Cell cycle_Homo sapiens_hsa04110 | 3.35062523 |
| 7 | RNA transport_Homo sapiens_hsa03013 | 3.21130107 |
| 8 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 3.13225194 |
| 9 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 3.01660946 |
| 10 | RNA polymerase_Homo sapiens_hsa03020 | 2.68949055 |
| 11 | Nucleotide excision repair_Homo sapiens_hsa03420 | 2.65817544 |
| 12 | Folate biosynthesis_Homo sapiens_hsa00790 | 2.55885557 |
| 13 | Non-homologous end-joining_Homo sapiens_hsa03450 | 2.48779759 |
| 14 | Regulation of autophagy_Homo sapiens_hsa04140 | 2.45172202 |
| 15 | Spliceosome_Homo sapiens_hsa03040 | 2.40376328 |
| 16 | One carbon pool by folate_Homo sapiens_hsa00670 | 2.31660560 |
| 17 | Proteasome_Homo sapiens_hsa03050 | 2.29787559 |
| 18 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.24039235 |
| 19 | Ribosome_Homo sapiens_hsa03010 | 2.19113842 |
| 20 | Fatty acid elongation_Homo sapiens_hsa00062 | 2.11459223 |
| 21 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.07120308 |
| 22 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.84987742 |
| 23 | Base excision repair_Homo sapiens_hsa03410 | 1.82924323 |
| 24 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.77316497 |
| 25 | RNA degradation_Homo sapiens_hsa03018 | 1.76230972 |
| 26 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.57530427 |
| 27 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.49446056 |
| 28 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.42843999 |
| 29 | Herpes simplex infection_Homo sapiens_hsa05168 | 1.34598074 |
| 30 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.29802069 |
| 31 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.25384450 |
| 32 | Protein export_Homo sapiens_hsa03060 | 1.16223123 |
| 33 | Lysine degradation_Homo sapiens_hsa00310 | 1.16216353 |
| 34 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 1.14793086 |
| 35 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.12900059 |
| 36 | Purine metabolism_Homo sapiens_hsa00230 | 1.11927681 |
| 37 | Thyroid cancer_Homo sapiens_hsa05216 | 1.11753251 |
| 38 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.08879876 |
| 39 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.06600367 |
| 40 | Sulfur relay system_Homo sapiens_hsa04122 | 1.00173935 |
| 41 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.99412662 |
| 42 | HTLV-I infection_Homo sapiens_hsa05166 | 0.92174107 |
| 43 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.91974148 |
| 44 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.88466974 |
| 45 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.86900147 |
| 46 | ABC transporters_Homo sapiens_hsa02010 | 0.82071704 |
| 47 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.81226287 |
| 48 | Huntingtons disease_Homo sapiens_hsa05016 | 0.77722553 |
| 49 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.76643670 |
| 50 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.75220550 |
| 51 | Adherens junction_Homo sapiens_hsa04520 | 0.74590505 |
| 52 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.73035000 |
| 53 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.67800225 |
| 54 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.64439317 |
| 55 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.64217676 |
| 56 | Tight junction_Homo sapiens_hsa04530 | 0.64192344 |
| 57 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.62740743 |
| 58 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.61924527 |
| 59 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.58875475 |
| 60 | Influenza A_Homo sapiens_hsa05164 | 0.58592853 |
| 61 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.56966268 |
| 62 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.54770059 |
| 63 | Shigellosis_Homo sapiens_hsa05131 | 0.52071166 |
| 64 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.49958553 |
| 65 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.49174440 |
| 66 | Circadian rhythm_Homo sapiens_hsa04710 | 0.49039213 |
| 67 | Carbon metabolism_Homo sapiens_hsa01200 | 0.43904966 |
| 68 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.43799337 |
| 69 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.43268354 |
| 70 | Pathways in cancer_Homo sapiens_hsa05200 | 0.42779640 |
| 71 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.40223666 |
| 72 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.37945406 |
| 73 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.36477843 |
| 74 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.34987330 |
| 75 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.34779137 |
| 76 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.34177688 |
| 77 | Lysosome_Homo sapiens_hsa04142 | 0.31950007 |
| 78 | Colorectal cancer_Homo sapiens_hsa05210 | 0.31320463 |
| 79 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.30759541 |
| 80 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.30438980 |
| 81 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.29779176 |
| 82 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.28618420 |
| 83 | Legionellosis_Homo sapiens_hsa05134 | 0.27550837 |
| 84 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.26256270 |
| 85 | Prion diseases_Homo sapiens_hsa05020 | 0.25822307 |
| 86 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.25312146 |
| 87 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.25245880 |
| 88 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.24964469 |
| 89 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.23779220 |
| 90 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.23604932 |
| 91 | Prostate cancer_Homo sapiens_hsa05215 | 0.22302097 |
| 92 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.21902793 |
| 93 | Melanogenesis_Homo sapiens_hsa04916 | 0.21590822 |
| 94 | Retinol metabolism_Homo sapiens_hsa00830 | 0.20951636 |
| 95 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.20454189 |
| 96 | Melanoma_Homo sapiens_hsa05218 | 0.20380131 |
| 97 | Alcoholism_Homo sapiens_hsa05034 | 0.19114791 |
| 98 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.18261089 |
| 99 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.16140298 |
| 100 | Focal adhesion_Homo sapiens_hsa04510 | 0.15791833 |
| 101 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.15198118 |
| 102 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.14827829 |
| 103 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.13301051 |
| 104 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.12373434 |
| 105 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.12038606 |
| 106 | Axon guidance_Homo sapiens_hsa04360 | 0.09809160 |
| 107 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.09056318 |
| 108 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.08529851 |
| 109 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.08442238 |
| 110 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.08390013 |
| 111 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.07839226 |
| 112 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.07575692 |
| 113 | Parkinsons disease_Homo sapiens_hsa05012 | 0.07193763 |
| 114 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.06455966 |
| 115 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.05975854 |
| 116 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.05783450 |
| 117 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.05753491 |
| 118 | Gap junction_Homo sapiens_hsa04540 | 0.05663151 |
| 119 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.04876471 |
| 120 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.04759090 |
| 121 | Glioma_Homo sapiens_hsa05214 | 0.04572154 |
| 122 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.04120412 |
| 123 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.03518356 |
| 124 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.03436582 |
| 125 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.03410952 |
| 126 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.02883388 |
| 127 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.02778229 |
| 128 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.02503347 |
| 129 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.02357325 |
| 130 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.02157054 |
| 131 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.00765434 |
| 132 | Metabolic pathways_Homo sapiens_hsa01100 | -0.0264957 |
| 133 | Endocytosis_Homo sapiens_hsa04144 | -0.0182073 |
| 134 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | -0.0113098 |
| 135 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | -0.0112023 |
| 136 | Pyruvate metabolism_Homo sapiens_hsa00620 | -0.0047191 |

