

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | negative regulation of erythrocyte differentiation (GO:0045647) | 5.28792618 |
| 2 | DNA unwinding involved in DNA replication (GO:0006268) | 4.57160297 |
| 3 | heterochromatin organization (GO:0070828) | 4.38513887 |
| 4 | negative regulation of mRNA splicing, via spliceosome (GO:0048025) | 4.36258986 |
| 5 | regulation of mammary gland epithelial cell proliferation (GO:0033599) | 4.34669175 |
| 6 | protein localization to kinetochore (GO:0034501) | 4.22394016 |
| 7 | regulation of translational fidelity (GO:0006450) | 4.18682148 |
| 8 | pre-miRNA processing (GO:0031054) | 4.01031198 |
| 9 | formation of translation preinitiation complex (GO:0001731) | 3.93855368 |
| 10 | negative regulation of RNA splicing (GO:0033119) | 3.84532668 |
| 11 | mitotic sister chromatid segregation (GO:0000070) | 3.82907417 |
| 12 | dosage compensation (GO:0007549) | 3.72655810 |
| 13 | negative regulation of mRNA processing (GO:0050686) | 3.70583766 |
| 14 | folic acid-containing compound biosynthetic process (GO:0009396) | 3.69278467 |
| 15 | regulation of NFAT protein import into nucleus (GO:0051532) | 3.67353861 |
| 16 | DNA strand elongation involved in DNA replication (GO:0006271) | 3.66447169 |
| 17 | intracellular estrogen receptor signaling pathway (GO:0030520) | 3.64885377 |
| 18 | mitotic nuclear envelope disassembly (GO:0007077) | 3.55800166 |
| 19 | negative regulation of cell size (GO:0045792) | 3.52773330 |
| 20 | histone H4-K12 acetylation (GO:0043983) | 3.50965565 |
| 21 | peptidyl-arginine omega-N-methylation (GO:0035247) | 3.50417947 |
| 22 | protein localization to chromosome, centromeric region (GO:0071459) | 3.46416862 |
| 23 | establishment of apical/basal cell polarity (GO:0035089) | 3.45646906 |
| 24 | sister chromatid segregation (GO:0000819) | 3.45000981 |
| 25 | maternal placenta development (GO:0001893) | 3.44106690 |
| 26 | DNA strand elongation (GO:0022616) | 3.43356065 |
| 27 | negative regulation of mRNA metabolic process (GO:1903312) | 3.37936849 |
| 28 | regulation of posttranscriptional gene silencing (GO:0060147) | 3.37092326 |
| 29 | regulation of gene silencing by miRNA (GO:0060964) | 3.37092326 |
| 30 | regulation of gene silencing by RNA (GO:0060966) | 3.37092326 |
| 31 | 3-UTR-mediated mRNA stabilization (GO:0070935) | 3.36626468 |
| 32 | telomere maintenance via semi-conservative replication (GO:0032201) | 3.34677040 |
| 33 | mRNA stabilization (GO:0048255) | 3.34264303 |
| 34 | RNA stabilization (GO:0043489) | 3.34264303 |
| 35 | DNA duplex unwinding (GO:0032508) | 3.33416041 |
| 36 | modulation by virus of host process (GO:0019054) | 3.33202266 |
| 37 | DNA replication initiation (GO:0006270) | 3.33188128 |
| 38 | DNA geometric change (GO:0032392) | 3.29610438 |
| 39 | regulation of early endosome to late endosome transport (GO:2000641) | 3.28716127 |
| 40 | lymph vessel development (GO:0001945) | 3.28182812 |
| 41 | nuclear envelope disassembly (GO:0051081) | 3.27988828 |
| 42 | membrane disassembly (GO:0030397) | 3.27988828 |
| 43 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 3.27635438 |
| 44 | trophectodermal cell differentiation (GO:0001829) | 3.25131621 |
| 45 | DNA deamination (GO:0045006) | 3.24468822 |
| 46 | spliceosomal tri-snRNP complex assembly (GO:0000244) | 3.24098969 |
| 47 | DNA replication-dependent nucleosome assembly (GO:0006335) | 3.23351256 |
| 48 | DNA replication-dependent nucleosome organization (GO:0034723) | 3.23351256 |
| 49 | thymic T cell selection (GO:0045061) | 3.21937490 |
| 50 | apoptotic process involved in morphogenesis (GO:0060561) | 3.21707918 |
| 51 | chromatin assembly (GO:0031497) | 3.17115400 |
| 52 | IMP biosynthetic process (GO:0006188) | 3.15040457 |
| 53 | regulation of histone H3-K27 methylation (GO:0061085) | 3.14122660 |
| 54 | viral transcription (GO:0019083) | 3.12704038 |
| 55 | negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471) | 3.12195021 |
| 56 | mitotic G1 DNA damage checkpoint (GO:0031571) | 3.11134992 |
| 57 | positive regulation of type I interferon-mediated signaling pathway (GO:0060340) | 3.08223318 |
| 58 | nuclear pore organization (GO:0006999) | 3.07292989 |
| 59 | proline biosynthetic process (GO:0006561) | 3.06368944 |
| 60 | regulation of RNA export from nucleus (GO:0046831) | 3.06038065 |
| 61 | modulation by symbiont of host cellular process (GO:0044068) | 3.04880711 |
| 62 | histone arginine methylation (GO:0034969) | 3.04508684 |
| 63 | protein retention in ER lumen (GO:0006621) | 3.04383351 |
| 64 | regulation of protein heterodimerization activity (GO:0043497) | 3.01146953 |
| 65 | nuclear pore complex assembly (GO:0051292) | 3.00910964 |
| 66 | positive thymic T cell selection (GO:0045059) | 3.00249549 |
| 67 | activation of Rac GTPase activity (GO:0032863) | 2.99816259 |
| 68 | translational termination (GO:0006415) | 2.98279933 |
| 69 | regulation of translational termination (GO:0006449) | 2.98202969 |
| 70 | adherens junction assembly (GO:0034333) | 2.95598161 |
| 71 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 2.95253404 |
| 72 | peptidyl-arginine methylation (GO:0018216) | 2.94784779 |
| 73 | peptidyl-arginine N-methylation (GO:0035246) | 2.94784779 |
| 74 | positive regulation of histone deacetylation (GO:0031065) | 2.92141767 |
| 75 | mannose metabolic process (GO:0006013) | 2.91867427 |
| 76 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184) | 2.88478437 |
| 77 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 2.88092705 |
| 78 | activation of MAPKKK activity (GO:0000185) | 2.88085976 |
| 79 | DNA replication checkpoint (GO:0000076) | 2.87737797 |
| 80 | nucleosome disassembly (GO:0006337) | 2.87643747 |
| 81 | protein-DNA complex disassembly (GO:0032986) | 2.87643747 |
| 82 | regulation of chromatin binding (GO:0035561) | 2.86962249 |
| 83 | COPI coating of Golgi vesicle (GO:0048205) | 2.85978354 |
| 84 | Golgi transport vesicle coating (GO:0048200) | 2.85978354 |
| 85 | translational initiation (GO:0006413) | 2.85189040 |
| 86 | positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling | 2.83155660 |
| 87 | NIK/NF-kappaB signaling (GO:0038061) | 2.82079196 |
| 88 | translational elongation (GO:0006414) | 2.79931072 |
| 89 | ribosome biogenesis (GO:0042254) | 2.79712845 |
| 90 | negative regulation of histone methylation (GO:0031061) | 2.79711369 |
| 91 | termination of RNA polymerase II transcription (GO:0006369) | 2.78279389 |
| 92 | negative regulation of myotube differentiation (GO:0010832) | 2.78059482 |
| 93 | nuclear envelope organization (GO:0006998) | 2.77467655 |
| 94 | base-excision repair (GO:0006284) | 2.77440918 |
| 95 | establishment or maintenance of monopolar cell polarity (GO:0061339) | 2.77425274 |
| 96 | establishment of monopolar cell polarity (GO:0061162) | 2.77425274 |
| 97 | regulation of nucleobase-containing compound transport (GO:0032239) | 2.77424192 |
| 98 | apoptotic process involved in development (GO:1902742) | 2.76604131 |
| 99 | negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665) | 2.76138282 |
| 100 | mitochondrial DNA metabolic process (GO:0032042) | 2.76032879 |
| 101 | DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla | 2.73634796 |
| 102 | histone H4 deacetylation (GO:0070933) | 2.73415112 |
| 103 | embryonic process involved in female pregnancy (GO:0060136) | 2.72634895 |
| 104 | antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885) | 2.72520696 |
| 105 | antigen processing and presentation of endogenous peptide antigen (GO:0002483) | 2.72346886 |
| 106 | ribosomal small subunit biogenesis (GO:0042274) | 2.71705304 |
| 107 | positive regulation of SMAD protein import into nucleus (GO:0060391) | 2.71584064 |
| 108 | mitotic G1/S transition checkpoint (GO:0044819) | 2.71143639 |
| 109 | regulation of apoptotic process involved in morphogenesis (GO:1902337) | 2.70349238 |
| 110 | telomere maintenance via recombination (GO:0000722) | 2.69975148 |
| 111 | * RNA splicing, via transesterification reactions with bulged adenosine as nucleophile (GO:0000377) | 2.69361200 |
| 112 | * mRNA splicing, via spliceosome (GO:0000398) | 2.69361200 |
| 113 | maturation of SSU-rRNA (GO:0030490) | 2.68789180 |
| 114 | * RNA splicing, via transesterification reactions (GO:0000375) | 2.68753848 |
| 115 | negative regulation of viral release from host cell (GO:1902187) | 2.66949478 |
| 116 | IMP metabolic process (GO:0046040) | 2.66041820 |
| 117 | snRNA metabolic process (GO:0016073) | 2.65506200 |
| 118 | focal adhesion assembly (GO:0048041) | 2.64833963 |
| 119 | cell-substrate adherens junction assembly (GO:0007045) | 2.64833963 |
| 120 | pentose-phosphate shunt (GO:0006098) | 2.64640853 |
| 121 | glucocorticoid receptor signaling pathway (GO:0042921) | 2.63817687 |
| 122 | chromosome condensation (GO:0030261) | 2.63510775 |
| 123 | regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083) | 2.63025607 |
| 124 | nuclear envelope reassembly (GO:0031468) | 2.62380893 |
| 125 | mitotic nuclear envelope reassembly (GO:0007084) | 2.62380893 |
| 126 | transcription from mitochondrial promoter (GO:0006390) | 2.61908776 |
| 127 | positive regulation of chromosome segregation (GO:0051984) | 2.61649853 |
| 128 | nucleotide-excision repair, DNA gap filling (GO:0006297) | 2.61580117 |
| 129 | somatic diversification of immune receptors via somatic mutation (GO:0002566) | 2.60882757 |
| 130 | somatic hypermutation of immunoglobulin genes (GO:0016446) | 2.60882757 |
| 131 | mRNA cleavage (GO:0006379) | 2.60623845 |
| 132 | histone H3 deacetylation (GO:0070932) | 2.60477069 |
| 133 | positive regulation of gene expression, epigenetic (GO:0045815) | 2.60269348 |
| 134 | antigen processing and presentation via MHC class Ib (GO:0002475) | 2.60178904 |
| 135 | Peyers patch development (GO:0048541) | 2.60036233 |
| 136 | mucosal-associated lymphoid tissue development (GO:0048537) | 2.60036233 |
| 137 | mitotic recombination (GO:0006312) | 2.57738916 |
| 138 | regulation of monocyte differentiation (GO:0045655) | 2.57364091 |
| 139 | cellular response to virus (GO:0098586) | 2.56974250 |
| 140 | maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005) | 2.56856007 |
| 141 | cellular hyperosmotic response (GO:0071474) | 2.56211129 |
| 142 | DNA conformation change (GO:0071103) | 2.56141509 |
| 143 | regulation of stem cell maintenance (GO:2000036) | 2.55435503 |
| 144 | telomere maintenance via telomere lengthening (GO:0010833) | 2.55405986 |
| 145 | regulation of glucose import in response to insulin stimulus (GO:2001273) | 2.55146266 |
| 146 | antigen processing and presentation of endogenous antigen (GO:0019883) | 2.54296197 |
| 147 | negative regulation of DNA-templated transcription, elongation (GO:0032785) | 2.53835355 |
| 148 | positive regulation of protein deacetylation (GO:0090312) | 2.53666938 |
| 149 | mRNA transport (GO:0051028) | 2.53239440 |
| 150 | DNA damage response, signal transduction resulting in transcription (GO:0042772) | 2.52181262 |
| 151 | mitotic chromosome condensation (GO:0007076) | 2.51936741 |
| 152 | response to muramyl dipeptide (GO:0032495) | 2.51618810 |
| 153 | poly(A)+ mRNA export from nucleus (GO:0016973) | 2.51489383 |
| 154 | retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) | 2.50597512 |
| 155 | regulation of integrin activation (GO:0033623) | 2.50376322 |
| 156 | negative regulation of striated muscle cell differentiation (GO:0051154) | 2.50248889 |
| 157 | response to laminar fluid shear stress (GO:0034616) | 2.46040333 |
| 158 | positive regulation of myotube differentiation (GO:0010831) | 2.45971754 |
| 159 | regulation of ARF GTPase activity (GO:0032312) | 2.44179976 |
| 160 | cellular response to interleukin-4 (GO:0071353) | 2.42710432 |
| 161 | regulation of type I interferon-mediated signaling pathway (GO:0060338) | 2.40589348 |
| 162 | regulation of mRNA stability (GO:0043488) | 2.36817984 |
| 163 | cell-cell junction maintenance (GO:0045217) | 2.36686542 |
| 164 | modulation by virus of host morphology or physiology (GO:0019048) | 2.36348308 |
| 165 | protein export from nucleus (GO:0006611) | 2.34176517 |
| 166 | regulation of RNA stability (GO:0043487) | 2.34017033 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E2F7_22180533_ChIP-Seq_HELA_Human | 6.17169109 |
| 2 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 3.68134757 |
| 3 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 3.43712914 |
| 4 | MYC_22102868_ChIP-Seq_BL_Human | 3.40615894 |
| 5 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 2.94952729 |
| 6 | VDR_21846776_ChIP-Seq_THP-1_Human | 2.46254645 |
| 7 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 2.39815986 |
| 8 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 2.33878527 |
| 9 | * MYC_19079543_ChIP-ChIP_MESCs_Mouse | 2.33008630 |
| 10 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.32865076 |
| 11 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 2.26846278 |
| 12 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.20157552 |
| 13 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.99926192 |
| 14 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.96625732 |
| 15 | * MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.94090195 |
| 16 | * MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.89795857 |
| 17 | SMAD1_18555785_ChIP-Seq_MESCs_Mouse | 1.87365121 |
| 18 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.85670306 |
| 19 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.84348849 |
| 20 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 1.78987757 |
| 21 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.75755440 |
| 22 | TCF7_22412390_ChIP-Seq_EML_Mouse | 1.73574362 |
| 23 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 1.69490653 |
| 24 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.69053921 |
| 25 | KDM2B_26808549_Chip-Seq_K562_Human | 1.65672817 |
| 26 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.64849132 |
| 27 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.64209973 |
| 28 | KDM2B_26808549_Chip-Seq_DND41_Human | 1.62544926 |
| 29 | KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 1.60269648 |
| 30 | CIITA_25753668_ChIP-Seq_RAJI_Human | 1.57606594 |
| 31 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.56522042 |
| 32 | KDM2B_26808549_Chip-Seq_JURKAT_Human | 1.55354584 |
| 33 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.55286752 |
| 34 | * CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.54885670 |
| 35 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.54140789 |
| 36 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 1.53866403 |
| 37 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 1.53866403 |
| 38 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 1.53866403 |
| 39 | CTCF_27219007_Chip-Seq_ERYTHROID_Human | 1.53622435 |
| 40 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.50901675 |
| 41 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 1.50778732 |
| 42 | KDM2B_26808549_Chip-Seq_HPB-ALL_Human | 1.47915839 |
| 43 | KDM2B_26808549_Chip-Seq_SUP-B15_Human | 1.47409454 |
| 44 | * TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.46574779 |
| 45 | EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 1.46143440 |
| 46 | * KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.46128253 |
| 47 | MAF_26560356_Chip-Seq_TH1_Human | 1.45383538 |
| 48 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 1.44565171 |
| 49 | UTX_26944678_Chip-Seq_JUKART_Human | 1.43839920 |
| 50 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 1.42760275 |
| 51 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.42393811 |
| 52 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.39398312 |
| 53 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 1.38447324 |
| 54 | * NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.37077007 |
| 55 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.36128177 |
| 56 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.35714541 |
| 57 | CREB1_26743006_Chip-Seq_LNCaP_Human | 1.34452243 |
| 58 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.34201391 |
| 59 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.34072679 |
| 60 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.33346950 |
| 61 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.33004196 |
| 62 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.32071932 |
| 63 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 1.31405126 |
| 64 | ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 1.30517181 |
| 65 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 1.29550101 |
| 66 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 1.27886172 |
| 67 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.26405905 |
| 68 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.25586482 |
| 69 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.25122604 |
| 70 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.23704568 |
| 71 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.22892439 |
| 72 | * ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.19947595 |
| 73 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 1.19782028 |
| 74 | RACK7_27058665_Chip-Seq_MCF-7_Human | 1.18560224 |
| 75 | MAF_26560356_Chip-Seq_TH2_Human | 1.18395463 |
| 76 | * BCOR_27268052_Chip-Seq_Bcells_Human | 1.18110311 |
| 77 | * BCL6_27268052_Chip-Seq_Bcells_Human | 1.17125068 |
| 78 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 1.16100604 |
| 79 | * MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.15764931 |
| 80 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.15554210 |
| 81 | * E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.15481179 |
| 82 | RUNX1_20887958_ChIP-Seq_HPC-7_Mouse | 1.15033478 |
| 83 | NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 1.14742309 |
| 84 | TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse | 1.13874911 |
| 85 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.13651019 |
| 86 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 1.13424817 |
| 87 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 1.13126708 |
| 88 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.12946381 |
| 89 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.12911476 |
| 90 | VDR_24763502_ChIP-Seq_THP-1_Human | 1.12874956 |
| 91 | SCL_19346495_ChIP-Seq_HPC-7_Human | 1.11554751 |
| 92 | NANOG_21062744_ChIP-ChIP_HESCs_Human | 1.11529048 |
| 93 | ATF3_27146783_Chip-Seq_COLON_Human | 1.11457633 |
| 94 | * NCOR1_26117541_ChIP-Seq_K562_Human | 1.10948016 |
| 95 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 1.10773067 |
| 96 | E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human | 1.10666932 |
| 97 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.09943902 |
| 98 | ZFP281_27345836_Chip-Seq_ESCs_Mouse | 1.09915868 |
| 99 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 1.09658745 |
| 100 | CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.09423638 |
| 101 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.09412540 |
| 102 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.08653949 |
| 103 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.08641867 |
| 104 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.08498368 |
| 105 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 1.08467160 |
| 106 | TFEB_21752829_ChIP-Seq_HELA_Human | 1.08442622 |
| 107 | SREBP2_21459322_ChIP-Seq_LIVER_Mouse | 1.08048889 |
| 108 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 1.07981425 |
| 109 | MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human | 1.07399270 |
| 110 | TCF3_18692474_ChIP-Seq_MEFs_Mouse | 1.07059418 |
| 111 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.06785290 |
| 112 | ZIC3_20872845_ChIP-ChIP_MESCs_Mouse | 1.06410321 |
| 113 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.06320780 |
| 114 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.05776098 |
| 115 | P68_20966046_ChIP-Seq_HELA_Human | 1.04993675 |
| 116 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.04617440 |
| 117 | CTCF_26484167_Chip-Seq_Bcells_Mouse | 1.03954520 |
| 118 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 1.03893173 |
| 119 | RUNX1_22412390_ChIP-Seq_EML_Mouse | 1.03631420 |
| 120 | PU.1_20513432_ChIP-Seq_Bcells_Mouse | 1.02899631 |
| 121 | SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 1.02462619 |
| 122 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.02398770 |
| 123 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.02082635 |
| 124 | SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.01997511 |
| 125 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.01744172 |
| 126 | * SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.01667620 |
| 127 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.01246598 |
| 128 | PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse | 1.01225996 |
| 129 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.01173571 |
| 130 | CTCF_21964334_Chip-Seq_Bcells_Human | 1.01042382 |
| 131 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.00474615 |
| 132 | VDR_23849224_ChIP-Seq_CD4+_Human | 1.00463417 |
| 133 | * GATA1_22383799_ChIP-Seq_G1ME_Mouse | 0.99781859 |
| 134 | MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 0.99649714 |
| 135 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 0.98745139 |
| 136 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 0.97957357 |
| 137 | BRD4_27068464_Chip-Seq_AML-cells_Mouse | 0.97342099 |
| 138 | NACC1_18358816_ChIP-ChIP_MESCs_Mouse | 0.96301192 |
| 139 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 0.96042956 |
| 140 | MYB_26560356_Chip-Seq_TH1_Human | 0.95837536 |
| 141 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 0.95809843 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003111_abnormal_nucleus_morphology | 3.17971899 |
| 2 | MP0008057_abnormal_DNA_replication | 3.12807520 |
| 3 | MP0004957_abnormal_blastocyst_morpholog | 3.03114767 |
| 4 | MP0010352_gastrointestinal_tract_polyps | 3.02811180 |
| 5 | MP0003693_abnormal_embryo_hatching | 2.79218791 |
| 6 | MP0010094_abnormal_chromosome_stability | 2.74214270 |
| 7 | MP0003705_abnormal_hypodermis_morpholog | 2.73848496 |
| 8 | MP0009278_abnormal_bone_marrow | 2.65370358 |
| 9 | MP0003077_abnormal_cell_cycle | 2.61342563 |
| 10 | MP0005451_abnormal_body_composition | 2.57239210 |
| 11 | MP0005076_abnormal_cell_differentiation | 2.57013892 |
| 12 | MP0004858_abnormal_nervous_system | 2.56065738 |
| 13 | MP0010030_abnormal_orbit_morphology | 2.50554389 |
| 14 | MP0002396_abnormal_hematopoietic_system | 2.35620354 |
| 15 | MP0002653_abnormal_ependyma_morphology | 2.09871236 |
| 16 | MP0000350_abnormal_cell_proliferation | 2.06855814 |
| 17 | MP0001730_embryonic_growth_arrest | 2.05895761 |
| 18 | MP0005058_abnormal_lysosome_morphology | 2.00463568 |
| 19 | MP0005623_abnormal_meninges_morphology | 2.00043705 |
| 20 | MP0005397_hematopoietic_system_phenotyp | 1.99631442 |
| 21 | MP0001545_abnormal_hematopoietic_system | 1.99631442 |
| 22 | MP0000490_abnormal_crypts_of | 1.83702175 |
| 23 | MP0010307_abnormal_tumor_latency | 1.82457922 |
| 24 | MP0001672_abnormal_embryogenesis/_devel | 1.79462348 |
| 25 | MP0005380_embryogenesis_phenotype | 1.79462348 |
| 26 | MP0004197_abnormal_fetal_growth/weight/ | 1.78658529 |
| 27 | MP0001697_abnormal_embryo_size | 1.73518824 |
| 28 | MP0003984_embryonic_growth_retardation | 1.70772414 |
| 29 | MP0008260_abnormal_autophagy | 1.68640657 |
| 30 | MP0002085_abnormal_embryonic_tissue | 1.68553135 |
| 31 | MP0002086_abnormal_extraembryonic_tissu | 1.68153585 |
| 32 | MP0002088_abnormal_embryonic_growth/wei | 1.68042520 |
| 33 | MP0002084_abnormal_developmental_patter | 1.67083740 |
| 34 | MP0008007_abnormal_cellular_replicative | 1.60393764 |
| 35 | MP0005666_abnormal_adipose_tissue | 1.56316802 |
| 36 | MP0002080_prenatal_lethality | 1.54657508 |
| 37 | MP0008932_abnormal_embryonic_tissue | 1.53087920 |
| 38 | MP0004808_abnormal_hematopoietic_stem | 1.52464522 |
| 39 | MP0000685_abnormal_immune_system | 1.49064165 |
| 40 | MP0009333_abnormal_splenocyte_physiolog | 1.46588870 |
| 41 | MP0008058_abnormal_DNA_repair | 1.45176893 |
| 42 | MP0000703_abnormal_thymus_morphology | 1.44513609 |
| 43 | MP0003172_abnormal_lysosome_physiology | 1.42699486 |
| 44 | MP0001873_stomach_inflammation | 1.41204613 |
| 45 | MP0001849_ear_inflammation | 1.40342870 |
| 46 | MP0005023_abnormal_wound_healing | 1.38330421 |
| 47 | MP0003566_abnormal_cell_adhesion | 1.37176964 |
| 48 | MP0002398_abnormal_bone_marrow | 1.36979471 |
| 49 | MP0005375_adipose_tissue_phenotype | 1.36512278 |
| 50 | MP0003763_abnormal_thymus_physiology | 1.35865434 |
| 51 | MP0000313_abnormal_cell_death | 1.35625180 |
| 52 | MP0002019_abnormal_tumor_incidence | 1.34976150 |
| 53 | MP0000003_abnormal_adipose_tissue | 1.32643599 |
| 54 | MP0003303_peritoneal_inflammation | 1.30459296 |
| 55 | MP0000681_abnormal_thyroid_gland | 1.30376386 |
| 56 | MP0002722_abnormal_immune_system | 1.29588036 |
| 57 | MP0001346_abnormal_lacrimal_gland | 1.28088077 |
| 58 | MP0004233_abnormal_muscle_weight | 1.27409420 |
| 59 | MP0001293_anophthalmia | 1.26606928 |
| 60 | MP0005409_darkened_coat_color | 1.26243888 |
| 61 | MP0003119_abnormal_digestive_system | 1.25961871 |
| 62 | MP0003786_premature_aging | 1.25515616 |
| 63 | MP0003300_gastrointestinal_ulcer | 1.25473459 |
| 64 | MP0003890_abnormal_embryonic-extraembry | 1.25458462 |
| 65 | MP0003123_paternal_imprinting | 1.24486171 |
| 66 | MP0002089_abnormal_postnatal_growth/wei | 1.22862457 |
| 67 | MP0000689_abnormal_spleen_morphology | 1.22109257 |
| 68 | MP0000537_abnormal_urethra_morphology | 1.18517818 |
| 69 | MP0004133_heterotaxia | 1.16152180 |
| 70 | MP0005670_abnormal_white_adipose | 1.16013853 |
| 71 | MP0002796_impaired_skin_barrier | 1.15359729 |
| 72 | MP0008961_abnormal_basal_metabolism | 1.13385598 |
| 73 | MP0002405_respiratory_system_inflammati | 1.11470995 |
| 74 | MP0000733_abnormal_muscle_development | 1.11071603 |
| 75 | MP0003091_abnormal_cell_migration | 1.07540114 |
| 76 | MP0008770_decreased_survivor_rate | 1.03437764 |
| 77 | MP0001915_intracranial_hemorrhage | 1.02569384 |
| 78 | MP0003283_abnormal_digestive_organ | 1.02419643 |
| 79 | MP0002429_abnormal_blood_cell | 1.00219700 |
| 80 | MP0003567_abnormal_fetal_cardiomyocyte | 0.97810649 |
| 81 | MP0002925_abnormal_cardiovascular_devel | 0.97041613 |
| 82 | MP0002932_abnormal_joint_morphology | 0.95291624 |
| 83 | MP0000858_altered_metastatic_potential | 0.94809590 |
| 84 | MP0004264_abnormal_extraembryonic_tissu | 0.94533181 |
| 85 | MP0005000_abnormal_immune_tolerance | 0.94527134 |
| 86 | MP0009931_abnormal_skin_appearance | 0.92943709 |
| 87 | MP0000750_abnormal_muscle_regeneration | 0.92211610 |
| 88 | MP0002420_abnormal_adaptive_immunity | 0.92190675 |
| 89 | MP0009840_abnormal_foam_cell | 0.91931069 |
| 90 | MP0002092_abnormal_eye_morphology | 0.91756037 |
| 91 | MP0009053_abnormal_anal_canal | 0.91329564 |
| 92 | MP0001819_abnormal_immune_cell | 0.90962119 |
| 93 | MP0005025_abnormal_response_to | 0.90439278 |
| 94 | MP0000428_abnormal_craniofacial_morphol | 0.90355971 |
| 95 | MP0000716_abnormal_immune_system | 0.89137961 |
| 96 | MP0002132_abnormal_respiratory_system | 0.88611691 |
| 97 | MP0002111_abnormal_tail_morphology | 0.86594997 |
| 98 | MP0002269_muscular_atrophy | 0.84926741 |
| 99 | MP0001800_abnormal_humoral_immune | 0.84514635 |
| 100 | MP0000477_abnormal_intestine_morphology | 0.84248869 |
| 101 | MP0001835_abnormal_antigen_presentation | 0.84187014 |
| 102 | MP0002970_abnormal_white_adipose | 0.82800273 |
| 103 | MP0002249_abnormal_larynx_morphology | 0.81686746 |
| 104 | MP0003453_abnormal_keratinocyte_physiol | 0.81423975 |
| 105 | MP0002723_abnormal_immune_serum | 0.81366826 |
| 106 | MP0003279_aneurysm | 0.80621174 |
| 107 | MP0005387_immune_system_phenotype | 0.80592627 |
| 108 | MP0001790_abnormal_immune_system | 0.80592627 |
| 109 | MP0000759_abnormal_skeletal_muscle | 0.80249624 |
| 110 | MP0009703_decreased_birth_body | 0.79407591 |
| 111 | MP0000266_abnormal_heart_morphology | 0.79331740 |
| 112 | MP0000678_abnormal_parathyroid_gland | 0.78754327 |
| 113 | MP0005464_abnormal_platelet_physiology | 0.78591337 |
| 114 | MP0002877_abnormal_melanocyte_morpholog | 0.78484682 |
| 115 | MP0004510_myositis | 0.78477720 |
| 116 | MP0001348_abnormal_lacrimal_gland | 0.77130599 |
| 117 | MP0010630_abnormal_cardiac_muscle | 0.76958347 |
| 118 | MP0005075_abnormal_melanosome_morpholog | 0.75950527 |
| 119 | MP0003115_abnormal_respiratory_system | 0.75920782 |
| 120 | MP0002452_abnormal_antigen_presenting | 0.75670963 |
| 121 | MP0004381_abnormal_hair_follicle | 0.75415201 |
| 122 | MP0009672_abnormal_birth_weight | 0.75348508 |
| 123 | MP0005621_abnormal_cell_physiology | 0.73942677 |
| 124 | MP0003942_abnormal_urinary_system | 0.73757564 |
| 125 | MP0006082_CNS_inflammation | 0.73322352 |
| 126 | MP0002697_abnormal_eye_size | 0.72780703 |
| 127 | MP0003448_altered_tumor_morphology | 0.72176709 |
| 128 | MP0003436_decreased_susceptibility_to | 0.71315345 |
| 129 | MP0004185_abnormal_adipocyte_glucose | 0.71050135 |
| 130 | MP0005501_abnormal_skin_physiology | 0.70711892 |
| 131 | MP0003121_genomic_imprinting | 0.70424600 |
| 132 | MP0000358_abnormal_cell_content/ | 0.69456972 |
| 133 | MP0004947_skin_inflammation | 0.69143471 |
| 134 | MP0005384_cellular_phenotype | 0.68858128 |
| 135 | MP0010155_abnormal_intestine_physiology | 0.68099857 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Ependymoma (HP:0002888) | 3.65770420 |
| 2 | Selective tooth agenesis (HP:0001592) | 3.50380007 |
| 3 | Hyperacusis (HP:0010780) | 3.08970245 |
| 4 | Rib fusion (HP:0000902) | 3.06514029 |
| 5 | Obstructive sleep apnea (HP:0002870) | 3.05171057 |
| 6 | Broad face (HP:0000283) | 2.95687897 |
| 7 | Basal cell carcinoma (HP:0002671) | 2.92943946 |
| 8 | Disproportionate tall stature (HP:0001519) | 2.89875372 |
| 9 | Long palpebral fissure (HP:0000637) | 2.86040429 |
| 10 | Increased density of long bones (HP:0006392) | 2.76101864 |
| 11 | Ulnar bowing (HP:0003031) | 2.74639619 |
| 12 | Broad distal phalanx of finger (HP:0009836) | 2.73963475 |
| 13 | Renal duplication (HP:0000075) | 2.70456436 |
| 14 | Truncus arteriosus (HP:0001660) | 2.70013475 |
| 15 | Astrocytoma (HP:0009592) | 2.65715285 |
| 16 | Abnormality of the astrocytes (HP:0100707) | 2.65715285 |
| 17 | Abnormality of the lower motor neuron (HP:0002366) | 2.59414376 |
| 18 | Cellulitis (HP:0100658) | 2.55031027 |
| 19 | Abnormal number of incisors (HP:0011064) | 2.54395270 |
| 20 | Abnormality of cells of the erythroid lineage (HP:0012130) | 2.52976080 |
| 21 | Hypertensive crisis (HP:0100735) | 2.52881654 |
| 22 | Abnormal number of erythroid precursors (HP:0012131) | 2.52315870 |
| 23 | Degeneration of anterior horn cells (HP:0002398) | 2.48809282 |
| 24 | Abnormality of the anterior horn cell (HP:0006802) | 2.48809282 |
| 25 | Deep palmar crease (HP:0006191) | 2.43049890 |
| 26 | Trismus (HP:0000211) | 2.42908297 |
| 27 | Broad palm (HP:0001169) | 2.41740553 |
| 28 | Stridor (HP:0010307) | 2.37794371 |
| 29 | Cerebral aneurysm (HP:0004944) | 2.37042321 |
| 30 | Short 5th finger (HP:0009237) | 2.37030707 |
| 31 | Distal lower limb amyotrophy (HP:0008944) | 2.36183727 |
| 32 | Hyperthyroidism (HP:0000836) | 2.35226596 |
| 33 | Skin tags (HP:0010609) | 2.35118173 |
| 34 | Neoplasm of striated muscle (HP:0009728) | 2.33772105 |
| 35 | Cholecystitis (HP:0001082) | 2.32135225 |
| 36 | Abnormal gallbladder physiology (HP:0012438) | 2.32135225 |
| 37 | Patellar aplasia (HP:0006443) | 2.30676713 |
| 38 | Increased nuchal translucency (HP:0010880) | 2.30500711 |
| 39 | Abnormality of the aortic arch (HP:0012303) | 2.29763478 |
| 40 | Pseudobulbar signs (HP:0002200) | 2.28268437 |
| 41 | Multiple enchondromatosis (HP:0005701) | 2.28055769 |
| 42 | Preauricular skin tag (HP:0000384) | 2.24448818 |
| 43 | Abnormality of the Achilles tendon (HP:0005109) | 2.20830961 |
| 44 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 2.20561769 |
| 45 | Short 4th metacarpal (HP:0010044) | 2.20561769 |
| 46 | Medulloblastoma (HP:0002885) | 2.17985876 |
| 47 | Protrusio acetabuli (HP:0003179) | 2.17539577 |
| 48 | Hypochromic anemia (HP:0001931) | 2.17305342 |
| 49 | Increased IgE level (HP:0003212) | 2.16908760 |
| 50 | Annular pancreas (HP:0001734) | 2.16730681 |
| 51 | Spinal muscular atrophy (HP:0007269) | 2.15489978 |
| 52 | Reticulocytosis (HP:0001923) | 2.14802942 |
| 53 | Patellar dislocation (HP:0002999) | 2.14219512 |
| 54 | Myopathic facies (HP:0002058) | 2.13970337 |
| 55 | Atrophy/Degeneration involving motor neurons (HP:0007373) | 2.13193896 |
| 56 | Centrally nucleated skeletal muscle fibers (HP:0003687) | 2.12312289 |
| 57 | Aplasia/Hypoplasia of the 5th finger (HP:0006262) | 2.12119287 |
| 58 | Biconcave vertebral bodies (HP:0004586) | 2.11891943 |
| 59 | Emphysema (HP:0002097) | 2.10976589 |
| 60 | Abnormality of reticulocytes (HP:0004312) | 2.10799076 |
| 61 | Aplasia/Hypoplasia of the patella (HP:0006498) | 2.10324281 |
| 62 | Rhabdomyosarcoma (HP:0002859) | 2.09615258 |
| 63 | Obstructive lung disease (HP:0006536) | 2.09494314 |
| 64 | Chronic obstructive pulmonary disease (HP:0006510) | 2.09494314 |
| 65 | Aplasia/hypoplasia of the humerus (HP:0006507) | 2.09265718 |
| 66 | Breast hypoplasia (HP:0003187) | 2.09109360 |
| 67 | Hand muscle atrophy (HP:0009130) | 2.08147406 |
| 68 | Pointed chin (HP:0000307) | 2.08068943 |
| 69 | Metaphyseal cupping (HP:0003021) | 2.06735869 |
| 70 | Abnormality of the distal phalanx of the thumb (HP:0009617) | 2.05752802 |
| 71 | Intestinal fistula (HP:0100819) | 2.05729360 |
| 72 | Genu recurvatum (HP:0002816) | 2.05317158 |
| 73 | Abnormality of the thoracic spine (HP:0100711) | 2.05280614 |
| 74 | Short humerus (HP:0005792) | 2.04808699 |
| 75 | Bowel incontinence (HP:0002607) | 2.04564734 |
| 76 | Seborrheic dermatitis (HP:0001051) | 2.04196904 |
| 77 | Reticulocytopenia (HP:0001896) | 2.03681094 |
| 78 | Increased connective tissue (HP:0009025) | 2.03077701 |
| 79 | Upper limb amyotrophy (HP:0009129) | 2.01981249 |
| 80 | Distal upper limb amyotrophy (HP:0007149) | 2.01981249 |
| 81 | Abnormality of the phalanges of the hallux (HP:0010057) | 2.01200286 |
| 82 | Thin ribs (HP:0000883) | 2.00082537 |
| 83 | Absent thumb (HP:0009777) | 1.99959265 |
| 84 | Poikiloderma (HP:0001029) | 1.99318563 |
| 85 | Vertebral fusion (HP:0002948) | 1.99096694 |
| 86 | Deviation of the thumb (HP:0009603) | 1.97190487 |
| 87 | Urethral obstruction (HP:0000796) | 1.97101177 |
| 88 | Proximal placement of thumb (HP:0009623) | 1.96926387 |
| 89 | Adenoma sebaceum (HP:0009720) | 1.96795738 |
| 90 | Angiofibromas (HP:0010615) | 1.96795738 |
| 91 | Facial hemangioma (HP:0000329) | 1.96405691 |
| 92 | Abnormality of the columella (HP:0009929) | 1.95981844 |
| 93 | Missing ribs (HP:0000921) | 1.95729284 |
| 94 | Nasal polyposis (HP:0100582) | 1.95582662 |
| 95 | Neoplasm of the oral cavity (HP:0100649) | 1.95103717 |
| 96 | Prominent nose (HP:0000448) | 1.94959829 |
| 97 | Atelectasis (HP:0100750) | 1.94586554 |
| 98 | Eczematoid dermatitis (HP:0000976) | 1.94387812 |
| 99 | Aplasia/Hypoplasia involving the carpal bones (HP:0006502) | 1.93882193 |
| 100 | Gastrointestinal inflammation (HP:0004386) | 1.92681191 |
| 101 | Glioma (HP:0009733) | 1.92523993 |
| 102 | Abnormal large intestine physiology (HP:0012700) | 1.92470510 |
| 103 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 1.91897077 |
| 104 | Gastrointestinal stroma tumor (HP:0100723) | 1.91318934 |
| 105 | Abnormality of the fingertips (HP:0001211) | 1.91007768 |
| 106 | Pustule (HP:0200039) | 1.90733380 |
| 107 | Easy fatigability (HP:0003388) | 1.89788062 |
| 108 | Colitis (HP:0002583) | 1.89240314 |
| 109 | Dysmetric saccades (HP:0000641) | 1.87774895 |
| 110 | High pitched voice (HP:0001620) | 1.86947440 |
| 111 | Absent radius (HP:0003974) | 1.86880280 |
| 112 | Muscle fibrillation (HP:0010546) | 1.85536896 |
| 113 | Unilateral renal agenesis (HP:0000122) | 1.84647231 |
| 114 | Thin bony cortex (HP:0002753) | 1.84472129 |
| 115 | Squamous cell carcinoma (HP:0002860) | 1.84361811 |
| 116 | Dislocated radial head (HP:0003083) | 1.84069509 |
| 117 | Segmental peripheral demyelination/remyelination (HP:0003481) | 1.83132276 |
| 118 | Carpal bone hypoplasia (HP:0001498) | 1.82759617 |
| 119 | Trigonocephaly (HP:0000243) | 1.82348919 |
| 120 | Insomnia (HP:0100785) | 1.81426187 |
| 121 | Polygenic inheritance (HP:0010982) | 1.80234035 |
| 122 | Tongue fasciculations (HP:0001308) | 1.80043065 |
| 123 | Rectal prolapse (HP:0002035) | 1.79217398 |
| 124 | Rectal fistula (HP:0100590) | 1.79147008 |
| 125 | Rectovaginal fistula (HP:0000143) | 1.79147008 |
| 126 | Premature skin wrinkling (HP:0100678) | 1.78660274 |
| 127 | Atresia of the external auditory canal (HP:0000413) | 1.78541386 |
| 128 | Turricephaly (HP:0000262) | 1.78477753 |
| 129 | Thoracic kyphosis (HP:0002942) | 1.76478778 |
| 130 | Progressive muscle weakness (HP:0003323) | 1.76426910 |
| 131 | Broad thumb (HP:0011304) | 1.76133284 |
| 132 | Cafe-au-lait spot (HP:0000957) | 1.75690044 |
| 133 | Bowing of the arm (HP:0006488) | 1.75485727 |
| 134 | Bowed forearm bones (HP:0003956) | 1.75485727 |
| 135 | Hemorrhage of the eye (HP:0011885) | 1.74055381 |
| 136 | Aplasia/Hypoplasia of the thymus (HP:0010515) | 1.73987734 |
| 137 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.73618507 |
| 138 | Abnormality of the nasal mucosa (HP:0000433) | 1.73184701 |
| 139 | Aplasia involving forearm bones (HP:0009822) | 1.72174786 |
| 140 | Absent forearm bone (HP:0003953) | 1.72174786 |
| 141 | Long eyelashes (HP:0000527) | 1.72152753 |
| 142 | Abnormal neuron morphology (HP:0012757) | 1.71538805 |
| 143 | Abnormality of the motor neurons (HP:0002450) | 1.71538805 |
| 144 | Overlapping toe (HP:0001845) | 1.70387438 |
| 145 | Hypercortisolism (HP:0001578) | 1.70008664 |
| 146 | Abnormality of the radial head (HP:0003995) | 1.69451016 |
| 147 | Polycythemia (HP:0001901) | 1.69362193 |
| 148 | Shallow orbits (HP:0000586) | 1.68628123 |
| 149 | Pallor (HP:0000980) | 1.68400554 |
| 150 | Nonimmune hydrops fetalis (HP:0001790) | 1.67846557 |
| 151 | Vertebral compression fractures (HP:0002953) | 1.67177553 |
| 152 | Mitral regurgitation (HP:0001653) | 1.64127400 |
| 153 | Fragile skin (HP:0001030) | 1.64082614 |
| 154 | Flat acetabular roof (HP:0003180) | 1.63814932 |
| 155 | Vaginal fistula (HP:0004320) | 1.62634117 |
| 156 | Abnormality of the 4th metacarpal (HP:0010012) | 1.62574677 |
| 157 | IgM deficiency (HP:0002850) | 1.62453248 |
| 158 | Petechiae (HP:0000967) | 1.62381171 |
| 159 | J-shaped sella turcica (HP:0002680) | 1.62130433 |
| 160 | Abnormality of the labia minora (HP:0012880) | 1.61725136 |
| 161 | Congenital hip dislocation (HP:0001374) | 1.61651146 |
| 162 | Achilles tendon contracture (HP:0001771) | 1.61577864 |
| 163 | Vertebral hypoplasia (HP:0008417) | 1.61314614 |
| 164 | Aplasia/Hypoplasia of the vertebrae (HP:0008515) | 1.61314614 |
| 165 | Heterotopia (HP:0002282) | 1.61030675 |
| 166 | Premature rupture of membranes (HP:0001788) | 1.60919826 |
| 167 | Mesangial abnormality (HP:0001966) | 1.60742823 |
| 168 | Self-mutilation (HP:0000742) | 1.60572480 |
| 169 | Ankle contracture (HP:0006466) | 1.60281730 |
| 170 | Ragged-red muscle fibers (HP:0003200) | 1.59837729 |
| 171 | Lower limb amyotrophy (HP:0007210) | 1.59508483 |
| 172 | High anterior hairline (HP:0009890) | 1.57007059 |
| 173 | Increased variability in muscle fiber diameter (HP:0003557) | 1.56994011 |
| 174 | Abnormality of the calcaneus (HP:0008364) | 1.56936629 |
| 175 | Gastrointestinal dysmotility (HP:0002579) | 1.56178006 |
| 176 | Abnormality of the distal phalanges of the toes (HP:0010182) | 1.53139033 |
| 177 | Elfin facies (HP:0004428) | 1.52747002 |
| 178 | Flared metaphyses (HP:0003015) | 1.52452808 |
| 179 | Hypoparathyroidism (HP:0000829) | 1.51650912 |
| 180 | Germ cell neoplasia (HP:0100728) | 1.51436037 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | CDK12 | 4.34450115 |
| 2 | SMG1 | 4.11784594 |
| 3 | MAP3K10 | 3.94450402 |
| 4 | EEF2K | 3.54287498 |
| 5 | PRPF4B | 3.34900938 |
| 6 | TRIB3 | 3.24873771 |
| 7 | ICK | 3.03147059 |
| 8 | ERN1 | 2.79066721 |
| 9 | PKN2 | 2.44594448 |
| 10 | MAP4K1 | 2.37509719 |
| 11 | CDC7 | 2.24872369 |
| 12 | IRAK3 | 2.09195969 |
| 13 | NEK2 | 1.96927027 |
| 14 | TESK2 | 1.83351001 |
| 15 | STK10 | 1.81093875 |
| 16 | CDK7 | 1.80313625 |
| 17 | GRK6 | 1.76654920 |
| 18 | MAP3K11 | 1.72815442 |
| 19 | BMX | 1.66722149 |
| 20 | BUB1 | 1.54141759 |
| 21 | RPS6KB2 | 1.51486057 |
| 22 | PAK4 | 1.43306443 |
| 23 | CDK4 | 1.42625358 |
| 24 | FGFR4 | 1.38422342 |
| 25 | ALK | 1.34612920 |
| 26 | TYRO3 | 1.30433075 |
| 27 | MAP3K13 | 1.29706291 |
| 28 | MTOR | 1.28970947 |
| 29 | LRRK2 | 1.27389159 |
| 30 | TTK | 1.26960170 |
| 31 | WEE1 | 1.17932297 |
| 32 | SIK1 | 1.15307366 |
| 33 | NEK1 | 1.14887197 |
| 34 | TAOK1 | 1.12963339 |
| 35 | PDGFRA | 1.12422728 |
| 36 | PIM2 | 1.12135882 |
| 37 | RIPK4 | 1.10859610 |
| 38 | MATK | 1.09060422 |
| 39 | PRKD3 | 1.09040100 |
| 40 | TTN | 1.07259480 |
| 41 | BRD4 | 1.05493448 |
| 42 | TNK2 | 1.04846901 |
| 43 | MAP3K8 | 1.04101586 |
| 44 | BRAF | 1.04077130 |
| 45 | PIM1 | 1.03370313 |
| 46 | DDR2 | 1.00865308 |
| 47 | SIK3 | 1.00439552 |
| 48 | IRAK4 | 0.99753399 |
| 49 | KSR2 | 0.98414491 |
| 50 | SCYL2 | 0.98218841 |
| 51 | RPS6KA4 | 0.97508846 |
| 52 | PLK1 | 0.97385332 |
| 53 | CDK6 | 0.96331462 |
| 54 | ARAF | 0.96083337 |
| 55 | KDR | 0.92913526 |
| 56 | ATR | 0.92682250 |
| 57 | DYRK3 | 0.91593055 |
| 58 | CHEK2 | 0.90902736 |
| 59 | PASK | 0.90528845 |
| 60 | MAP3K1 | 0.90345019 |
| 61 | CHEK1 | 0.89996535 |
| 62 | PTK6 | 0.88021108 |
| 63 | DYRK1B | 0.87327724 |
| 64 | CSF1R | 0.86262367 |
| 65 | CDC42BPA | 0.85669058 |
| 66 | SIK2 | 0.85411951 |
| 67 | ZAP70 | 0.83681584 |
| 68 | VRK2 | 0.81936972 |
| 69 | CSK | 0.80490470 |
| 70 | RPS6KA2 | 0.77159846 |
| 71 | CDK2 | 0.74804343 |
| 72 | AURKB | 0.73791647 |
| 73 | MAPK11 | 0.73027141 |
| 74 | PAK2 | 0.72928462 |
| 75 | MAPKAPK3 | 0.72209494 |
| 76 | IRAK2 | 0.71199158 |
| 77 | AKT2 | 0.71171231 |
| 78 | TSSK6 | 0.70771302 |
| 79 | CAMK1D | 0.70092913 |
| 80 | EPHA2 | 0.69166570 |
| 81 | STK4 | 0.69122544 |
| 82 | MAP2K3 | 0.68677446 |
| 83 | LATS2 | 0.68147348 |
| 84 | PRKD2 | 0.67093312 |
| 85 | PDPK1 | 0.66872027 |
| 86 | UHMK1 | 0.66776890 |
| 87 | TBK1 | 0.66220923 |
| 88 | RIPK1 | 0.65989503 |
| 89 | BTK | 0.65488860 |
| 90 | CDK9 | 0.65394751 |
| 91 | AURKA | 0.65166315 |
| 92 | RPS6KA1 | 0.64864062 |
| 93 | TESK1 | 0.64296790 |
| 94 | EPHB1 | 0.63290915 |
| 95 | FLT3 | 0.62808850 |
| 96 | CHUK | 0.61888546 |
| 97 | RPS6KL1 | 0.61662112 |
| 98 | RPS6KC1 | 0.61662112 |
| 99 | HIPK2 | 0.60246806 |
| 100 | PAK1 | 0.59032062 |
| 101 | RPS6KA6 | 0.58150002 |
| 102 | NME2 | 0.57094611 |
| 103 | MAP3K14 | 0.56262322 |
| 104 | BLK | 0.55485259 |
| 105 | CAMKK1 | 0.53406315 |
| 106 | ILK | 0.52305262 |
| 107 | MAPKAPK2 | 0.52083791 |
| 108 | MAP3K7 | 0.50885262 |
| 109 | MAP3K6 | 0.50837174 |
| 110 | TAOK2 | 0.50237004 |
| 111 | ATM | 0.49780677 |
| 112 | BRSK1 | 0.49319619 |
| 113 | DAPK1 | 0.48030291 |
| 114 | MAP3K3 | 0.47522202 |
| 115 | TGFBR1 | 0.46754717 |
| 116 | JAK3 | 0.43945103 |
| 117 | PTK2 | 0.43904769 |
| 118 | MAPK12 | 0.43627806 |
| 119 | PDK1 | 0.42575022 |
| 120 | PRKG2 | 0.42303016 |
| 121 | CDK1 | 0.41910103 |
| 122 | EIF2AK1 | 0.40661271 |
| 123 | TGFBR2 | 0.40191502 |
| 124 | HCK | 0.38966466 |
| 125 | MAPK1 | 0.38348417 |
| 126 | MARK2 | 0.38028683 |
| 127 | MOS | 0.37812475 |
| 128 | TYK2 | 0.35942266 |
| 129 | CLK1 | 0.34625944 |
| 130 | FES | 0.34503930 |
| 131 | MAP2K2 | 0.34328530 |
| 132 | CDK11A | 0.33848049 |
| 133 | STK3 | 0.32520467 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | DNA replication_Homo sapiens_hsa03030 | 3.99913643 |
| 2 | Mismatch repair_Homo sapiens_hsa03430 | 3.28209511 |
| 3 | Base excision repair_Homo sapiens_hsa03410 | 3.02830396 |
| 4 | * Spliceosome_Homo sapiens_hsa03040 | 2.84598914 |
| 5 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.56643073 |
| 6 | RNA transport_Homo sapiens_hsa03013 | 2.56092561 |
| 7 | One carbon pool by folate_Homo sapiens_hsa00670 | 2.31368439 |
| 8 | Cell cycle_Homo sapiens_hsa04110 | 2.23461127 |
| 9 | Ribosome_Homo sapiens_hsa03010 | 2.19989962 |
| 10 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 2.09346867 |
| 11 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.91481598 |
| 12 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.83946292 |
| 13 | Other glycan degradation_Homo sapiens_hsa00511 | 1.83857204 |
| 14 | Notch signaling pathway_Homo sapiens_hsa04330 | 1.80992474 |
| 15 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.80226899 |
| 16 | Homologous recombination_Homo sapiens_hsa03440 | 1.71119563 |
| 17 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 1.69230418 |
| 18 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.47026837 |
| 19 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 1.46248951 |
| 20 | Bladder cancer_Homo sapiens_hsa05219 | 1.43831882 |
| 21 | Primary immunodeficiency_Homo sapiens_hsa05340 | 1.40944327 |
| 22 | mTOR signaling pathway_Homo sapiens_hsa04150 | 1.34249007 |
| 23 | HTLV-I infection_Homo sapiens_hsa05166 | 1.30535913 |
| 24 | Sulfur relay system_Homo sapiens_hsa04122 | 1.27359840 |
| 25 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 1.23074895 |
| 26 | Viral carcinogenesis_Homo sapiens_hsa05203 | 1.18903312 |
| 27 | Lysine degradation_Homo sapiens_hsa00310 | 1.18225053 |
| 28 | Prion diseases_Homo sapiens_hsa05020 | 1.17186356 |
| 29 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.15703671 |
| 30 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 1.15694169 |
| 31 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.15421204 |
| 32 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.15319651 |
| 33 | Basal cell carcinoma_Homo sapiens_hsa05217 | 1.15292638 |
| 34 | RNA degradation_Homo sapiens_hsa03018 | 1.14989942 |
| 35 | Herpes simplex infection_Homo sapiens_hsa05168 | 1.14235541 |
| 36 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.12386477 |
| 37 | Thyroid cancer_Homo sapiens_hsa05216 | 1.10111900 |
| 38 | Colorectal cancer_Homo sapiens_hsa05210 | 1.09729530 |
| 39 | Shigellosis_Homo sapiens_hsa05131 | 1.09672592 |
| 40 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 1.08848343 |
| 41 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 1.07834556 |
| 42 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 1.07613122 |
| 43 | ErbB signaling pathway_Homo sapiens_hsa04012 | 1.07575692 |
| 44 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.06370969 |
| 45 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 1.05989944 |
| 46 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.02394445 |
| 47 | Hippo signaling pathway_Homo sapiens_hsa04390 | 1.02348747 |
| 48 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 1.01766968 |
| 49 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 1.01030005 |
| 50 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.99372088 |
| 51 | Apoptosis_Homo sapiens_hsa04210 | 0.97338732 |
| 52 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.95288501 |
| 53 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.94925147 |
| 54 | Adherens junction_Homo sapiens_hsa04520 | 0.94786994 |
| 55 | RNA polymerase_Homo sapiens_hsa03020 | 0.93678167 |
| 56 | Viral myocarditis_Homo sapiens_hsa05416 | 0.93474591 |
| 57 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.92243912 |
| 58 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.92231267 |
| 59 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.91441621 |
| 60 | Hepatitis B_Homo sapiens_hsa05161 | 0.91296037 |
| 61 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.87167055 |
| 62 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.86261138 |
| 63 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.85452674 |
| 64 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.85038709 |
| 65 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.83158966 |
| 66 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.82492729 |
| 67 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.81468993 |
| 68 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.78481158 |
| 69 | Measles_Homo sapiens_hsa05162 | 0.77980644 |
| 70 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.75533135 |
| 71 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.75473198 |
| 72 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.73718169 |
| 73 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.73433338 |
| 74 | Legionellosis_Homo sapiens_hsa05134 | 0.72704634 |
| 75 | Hepatitis C_Homo sapiens_hsa05160 | 0.72600615 |
| 76 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.71649459 |
| 77 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.71637317 |
| 78 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.71311366 |
| 79 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.71189720 |
| 80 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.70550447 |
| 81 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.70342263 |
| 82 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.70272610 |
| 83 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.68754844 |
| 84 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.68449708 |
| 85 | Endocytosis_Homo sapiens_hsa04144 | 0.68180429 |
| 86 | Endometrial cancer_Homo sapiens_hsa05213 | 0.68022852 |
| 87 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.67614420 |
| 88 | Leishmaniasis_Homo sapiens_hsa05140 | 0.67326339 |
| 89 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.67294123 |
| 90 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.66367810 |
| 91 | Pathways in cancer_Homo sapiens_hsa05200 | 0.65717881 |
| 92 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.65489095 |
| 93 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.65452914 |
| 94 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.65032631 |
| 95 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.64648411 |
| 96 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.64492078 |
| 97 | Galactose metabolism_Homo sapiens_hsa00052 | 0.63750749 |
| 98 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.61707968 |
| 99 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.60481842 |
| 100 | Salmonella infection_Homo sapiens_hsa05132 | 0.59284282 |
| 101 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.57736738 |
| 102 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.57294293 |
| 103 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.57181446 |
| 104 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.56988176 |
| 105 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.56726601 |
| 106 | Tuberculosis_Homo sapiens_hsa05152 | 0.55708915 |
| 107 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.54939386 |
| 108 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.53102461 |
| 109 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.53078411 |
| 110 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.52886319 |
| 111 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.51951773 |
| 112 | Focal adhesion_Homo sapiens_hsa04510 | 0.51486450 |
| 113 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.50865879 |
| 114 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.50746671 |
| 115 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.48996184 |
| 116 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.48578740 |
| 117 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.48257504 |
| 118 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.47729476 |
| 119 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.47238073 |
| 120 | Glioma_Homo sapiens_hsa05214 | 0.45601959 |
| 121 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.44904113 |
| 122 | Osteoclast differentiation_Homo sapiens_hsa04380 | 0.44453931 |
| 123 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 0.43308980 |
| 124 | Prostate cancer_Homo sapiens_hsa05215 | 0.43202713 |
| 125 | Influenza A_Homo sapiens_hsa05164 | 0.42512895 |
| 126 | Carbon metabolism_Homo sapiens_hsa01200 | 0.42429358 |
| 127 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.42153492 |
| 128 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.41369576 |
| 129 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.41323701 |

