

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ribosomal small subunit assembly (GO:0000028) | 6.35272761 |
| 2 | SRP-dependent cotranslational protein targeting to membrane (GO:0006614) | 5.71868364 |
| 3 | cotranslational protein targeting to membrane (GO:0006613) | 5.61882083 |
| 4 | protein targeting to ER (GO:0045047) | 5.58823759 |
| 5 | viral transcription (GO:0019083) | 5.51867022 |
| 6 | translational termination (GO:0006415) | 5.34468557 |
| 7 | protein localization to endoplasmic reticulum (GO:0070972) | 5.32726230 |
| 8 | establishment of protein localization to endoplasmic reticulum (GO:0072599) | 5.29061178 |
| 9 | ribosomal small subunit biogenesis (GO:0042274) | 5.02683195 |
| 10 | chaperone-mediated protein transport (GO:0072321) | 4.97856528 |
| 11 | translational elongation (GO:0006414) | 4.69470521 |
| 12 | signal peptide processing (GO:0006465) | 4.65595104 |
| 13 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 4.53355975 |
| 14 | DNA deamination (GO:0045006) | 4.47621834 |
| 15 | mitochondrial respiratory chain complex assembly (GO:0033108) | 4.37513489 |
| 16 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 4.32598428 |
| 17 | respiratory electron transport chain (GO:0022904) | 4.22779212 |
| 18 | electron transport chain (GO:0022900) | 4.20050566 |
| 19 | viral life cycle (GO:0019058) | 4.18858877 |
| 20 | COPI coating of Golgi vesicle (GO:0048205) | 4.13267985 |
| 21 | Golgi transport vesicle coating (GO:0048200) | 4.13267985 |
| 22 | cellular protein complex disassembly (GO:0043624) | 3.98859949 |
| 23 | translational initiation (GO:0006413) | 3.98840105 |
| 24 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184) | 3.98200250 |
| 25 | cytochrome complex assembly (GO:0017004) | 3.93088051 |
| 26 | pseudouridine synthesis (GO:0001522) | 3.90424810 |
| 27 | translation (GO:0006412) | 3.90372146 |
| 28 | protein deneddylation (GO:0000338) | 3.89737518 |
| 29 | maturation of SSU-rRNA (GO:0030490) | 3.88624047 |
| 30 | water-soluble vitamin biosynthetic process (GO:0042364) | 3.79615418 |
| 31 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 3.79176135 |
| 32 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 3.73820830 |
| 33 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 3.73820830 |
| 34 | protein retention in ER lumen (GO:0006621) | 3.68689017 |
| 35 | protein targeting to membrane (GO:0006612) | 3.65966280 |
| 36 | mannosylation (GO:0097502) | 3.64775221 |
| 37 | proteasome assembly (GO:0043248) | 3.64322136 |
| 38 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221) | 3.59666063 |
| 39 | L-phenylalanine metabolic process (GO:0006558) | 3.59666063 |
| 40 | rRNA modification (GO:0000154) | 3.48668345 |
| 41 | protein neddylation (GO:0045116) | 3.46473645 |
| 42 | protein targeting to mitochondrion (GO:0006626) | 3.46074642 |
| 43 | formation of translation preinitiation complex (GO:0001731) | 3.45909478 |
| 44 | L-phenylalanine catabolic process (GO:0006559) | 3.43524507 |
| 45 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222) | 3.43524507 |
| 46 | aldehyde catabolic process (GO:0046185) | 3.42851932 |
| 47 | protein complex disassembly (GO:0043241) | 3.42449885 |
| 48 | peptidyl-histidine modification (GO:0018202) | 3.41549462 |
| 49 | ribosomal large subunit biogenesis (GO:0042273) | 3.36195542 |
| 50 | pteridine-containing compound biosynthetic process (GO:0042559) | 3.34021770 |
| 51 | pyrimidine deoxyribonucleotide catabolic process (GO:0009223) | 3.29497558 |
| 52 | establishment of protein localization to mitochondrion (GO:0072655) | 3.25443554 |
| 53 | macromolecular complex disassembly (GO:0032984) | 3.23883463 |
| 54 | protein-cofactor linkage (GO:0018065) | 3.21274718 |
| 55 | purine nucleoside triphosphate biosynthetic process (GO:0009145) | 3.16209045 |
| 56 | deoxyribonucleoside monophosphate metabolic process (GO:0009162) | 3.15471097 |
| 57 | purine ribonucleoside triphosphate biosynthetic process (GO:0009206) | 3.15371050 |
| 58 | proline biosynthetic process (GO:0006561) | 3.14384011 |
| 59 | protein localization to mitochondrion (GO:0070585) | 3.12297412 |
| 60 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 3.10576809 |
| 61 | ATP biosynthetic process (GO:0006754) | 3.09729410 |
| 62 | tRNA processing (GO:0008033) | 3.09182428 |
| 63 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 3.08787113 |
| 64 | nucleoside transmembrane transport (GO:1901642) | 3.02496956 |
| 65 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 3.01837696 |
| 66 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO: | 3.00610138 |
| 67 | base-excision repair, AP site formation (GO:0006285) | 3.00340114 |
| 68 | maturation of 5.8S rRNA (GO:0000460) | 2.97826770 |
| 69 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 2.93724431 |
| 70 | nuclear-transcribed mRNA catabolic process (GO:0000956) | 2.93027438 |
| 71 | hydrogen ion transmembrane transport (GO:1902600) | 2.92587519 |
| 72 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 2.91421664 |
| 73 | ATP synthesis coupled proton transport (GO:0015986) | 2.91421664 |
| 74 | protein maturation by protein folding (GO:0022417) | 2.90689646 |
| 75 | UTP biosynthetic process (GO:0006228) | 2.90379578 |
| 76 | ribonucleoside triphosphate biosynthetic process (GO:0009201) | 2.89928999 |
| 77 | branched-chain amino acid catabolic process (GO:0009083) | 2.88995227 |
| 78 | tRNA metabolic process (GO:0006399) | 2.88101399 |
| 79 | dolichol-linked oligosaccharide biosynthetic process (GO:0006488) | 2.87587973 |
| 80 | platelet dense granule organization (GO:0060155) | 2.86683156 |
| 81 | behavioral response to nicotine (GO:0035095) | 2.84802139 |
| 82 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 2.84534000 |
| 83 | glyoxylate metabolic process (GO:0046487) | 2.83856412 |
| 84 | antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590) | 2.82902799 |
| 85 | mitochondrial transport (GO:0006839) | 2.81710261 |
| 86 | ubiquinone biosynthetic process (GO:0006744) | 2.81637778 |
| 87 | GDP-mannose metabolic process (GO:0019673) | 2.81382488 |
| 88 | preassembly of GPI anchor in ER membrane (GO:0016254) | 2.81351633 |
| 89 | rRNA processing (GO:0006364) | 2.80098717 |
| 90 | cellular ketone body metabolic process (GO:0046950) | 2.79790594 |
| 91 | serine family amino acid biosynthetic process (GO:0009070) | 2.79678259 |
| 92 | regulation of cellular amine metabolic process (GO:0033238) | 2.79395382 |
| 93 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 2.79342709 |
| 94 | UTP metabolic process (GO:0046051) | 2.78509258 |
| 95 | folic acid-containing compound biosynthetic process (GO:0009396) | 2.77978954 |
| 96 | pyrimidine nucleoside triphosphate metabolic process (GO:0009147) | 2.77895330 |
| 97 | mRNA catabolic process (GO:0006402) | 2.76091610 |
| 98 | oxidative phosphorylation (GO:0006119) | 2.75959271 |
| 99 | CTP metabolic process (GO:0046036) | 2.75894516 |
| 100 | CTP biosynthetic process (GO:0006241) | 2.75894516 |
| 101 | ribonucleoprotein complex biogenesis (GO:0022613) | 2.74325704 |
| 102 | regulation of cellular amino acid metabolic process (GO:0006521) | 2.73835094 |
| 103 | rRNA metabolic process (GO:0016072) | 2.73780259 |
| 104 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 2.73434762 |
| 105 | proline metabolic process (GO:0006560) | 2.69447847 |
| 106 | amino acid salvage (GO:0043102) | 2.69310109 |
| 107 | L-methionine salvage (GO:0071267) | 2.69310109 |
| 108 | L-methionine biosynthetic process (GO:0071265) | 2.69310109 |
| 109 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 2.65756567 |
| 110 | nucleoside salvage (GO:0043174) | 2.65053448 |
| 111 | sulfur amino acid catabolic process (GO:0000098) | 2.64725199 |
| 112 | establishment of integrated proviral latency (GO:0075713) | 2.63890511 |
| 113 | aromatic amino acid family catabolic process (GO:0009074) | 2.60308838 |
| 114 | signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 2.59041223 |
| 115 | intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 2.59041223 |
| 116 | COPII vesicle coating (GO:0048208) | 2.58758555 |
| 117 | glycine metabolic process (GO:0006544) | 2.57427072 |
| 118 | respiratory chain complex IV assembly (GO:0008535) | 2.57407802 |
| 119 | negative regulation of ligase activity (GO:0051352) | 2.56892585 |
| 120 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 2.56892585 |
| 121 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 2.56444603 |
| 122 | signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 2.56182768 |
| 123 | signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 2.56182768 |
| 124 | signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 2.56182768 |
| 125 | antigen processing and presentation of peptide antigen via MHC class I (GO:0002474) | 2.56126103 |
| 126 | RNA catabolic process (GO:0006401) | 2.54617675 |
| 127 | tetrahydrofolate metabolic process (GO:0046653) | 2.54156893 |
| 128 | exocrine pancreas development (GO:0031017) | 2.50446385 |
| 129 | cellular component biogenesis (GO:0044085) | 2.49840996 |
| 130 | establishment of protein localization to membrane (GO:0090150) | 2.49594458 |
| 131 | protein targeting (GO:0006605) | 2.49131042 |
| 132 | GTP biosynthetic process (GO:0006183) | 2.49016150 |
| 133 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 2.47985332 |
| 134 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 2.47985332 |
| 135 | NADH dehydrogenase complex assembly (GO:0010257) | 2.47985332 |
| 136 | metallo-sulfur cluster assembly (GO:0031163) | 2.47633961 |
| 137 | iron-sulfur cluster assembly (GO:0016226) | 2.47633961 |
| 138 | signal transduction involved in DNA damage checkpoint (GO:0072422) | 2.46900563 |
| 139 | signal transduction involved in DNA integrity checkpoint (GO:0072401) | 2.46900563 |
| 140 | intestinal cholesterol absorption (GO:0030299) | 2.46117060 |
| 141 | L-serine metabolic process (GO:0006563) | 2.45637038 |
| 142 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 2.45489721 |
| 143 | protein complex biogenesis (GO:0070271) | 2.43933022 |
| 144 | regulation of mitochondrial translation (GO:0070129) | 2.43729901 |
| 145 | signal transduction involved in cell cycle checkpoint (GO:0072395) | 2.43025271 |
| 146 | nucleobase-containing small molecule interconversion (GO:0015949) | 2.42118953 |
| 147 | cullin deneddylation (GO:0010388) | 2.42116792 |
| 148 | termination of RNA polymerase III transcription (GO:0006386) | 2.41965061 |
| 149 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 2.41965061 |
| 150 | guanosine-containing compound biosynthetic process (GO:1901070) | 2.40193757 |
| 151 | response to interferon-beta (GO:0035456) | 2.38624393 |
| 152 | sulfur amino acid biosynthetic process (GO:0000097) | 2.37691428 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 4.00382202 |
| 2 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 3.94674783 |
| 3 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 3.70727007 |
| 4 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.67809357 |
| 5 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 3.66830236 |
| 6 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 3.47767823 |
| 7 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 3.33190465 |
| 8 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 3.28009507 |
| 9 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 2.97895019 |
| 10 | * ETS1_20019798_ChIP-Seq_JURKAT_Human | 2.95518152 |
| 11 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 2.92421011 |
| 12 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 2.85077520 |
| 13 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 2.83045882 |
| 14 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 2.67443995 |
| 15 | E2F7_22180533_ChIP-Seq_HELA_Human | 2.66324577 |
| 16 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.53760778 |
| 17 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 2.45792326 |
| 18 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 2.38704858 |
| 19 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 2.37958993 |
| 20 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 2.32021550 |
| 21 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.30607236 |
| 22 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 2.25556129 |
| 23 | DCP1A_22483619_ChIP-Seq_HELA_Human | 2.22303195 |
| 24 | * XRN2_22483619_ChIP-Seq_HELA_Human | 2.21820709 |
| 25 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 2.18270090 |
| 26 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 2.18161017 |
| 27 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 2.17915021 |
| 28 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 2.17866414 |
| 29 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 2.12208741 |
| 30 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.09163510 |
| 31 | VDR_23849224_ChIP-Seq_CD4+_Human | 2.06045366 |
| 32 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 2.05341901 |
| 33 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 2.01944610 |
| 34 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.99780244 |
| 35 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.95533756 |
| 36 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.89055038 |
| 37 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.86885955 |
| 38 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 1.86415027 |
| 39 | * CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.82836338 |
| 40 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.75330613 |
| 41 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.75314348 |
| 42 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.73010054 |
| 43 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.71868249 |
| 44 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.71161031 |
| 45 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.67179577 |
| 46 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.67003768 |
| 47 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.65922226 |
| 48 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.65842452 |
| 49 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.65042261 |
| 50 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.63742573 |
| 51 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.61781501 |
| 52 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.54687846 |
| 53 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.49150089 |
| 54 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.46913194 |
| 55 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.40689742 |
| 56 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.39337040 |
| 57 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.38318272 |
| 58 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.30583212 |
| 59 | SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.29824617 |
| 60 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.29374444 |
| 61 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.27541714 |
| 62 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.26214350 |
| 63 | LXR_22158963_ChIP-Seq_LIVER_Mouse | 1.25603934 |
| 64 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.25334698 |
| 65 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.23919674 |
| 66 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.21900480 |
| 67 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.21396254 |
| 68 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.18175700 |
| 69 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.17868179 |
| 70 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.15408031 |
| 71 | VDR_22108803_ChIP-Seq_LS180_Human | 1.15204510 |
| 72 | CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human | 1.11459352 |
| 73 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 1.11431044 |
| 74 | CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 1.11270703 |
| 75 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.11057196 |
| 76 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.10456916 |
| 77 | * TFEB_21752829_ChIP-Seq_HELA_Human | 1.09324532 |
| 78 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 1.08759524 |
| 79 | FOXP1_21924763_ChIP-Seq_HESCs_Human | 1.07825046 |
| 80 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.06506010 |
| 81 | PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse | 1.06409107 |
| 82 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 1.04403367 |
| 83 | GFI1B_20887958_ChIP-Seq_HPC-7_Mouse | 1.04075330 |
| 84 | STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 1.03605094 |
| 85 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 1.02896667 |
| 86 | * FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.01551266 |
| 87 | * FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.01551266 |
| 88 | * AR_20517297_ChIP-Seq_VCAP_Human | 1.01105903 |
| 89 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.00179195 |
| 90 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 1.00153029 |
| 91 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 0.99827562 |
| 92 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 0.99522990 |
| 93 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 0.99227478 |
| 94 | SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 0.97802511 |
| 95 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 0.96672145 |
| 96 | ERA_21632823_ChIP-Seq_H3396_Human | 0.96429713 |
| 97 | CIITA_25753668_ChIP-Seq_RAJI_Human | 0.96022025 |
| 98 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 0.93420973 |
| 99 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 0.92889871 |
| 100 | * SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.92773531 |
| 101 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 0.92754895 |
| 102 | SOX2_18692474_ChIP-Seq_MEFs_Mouse | 0.92701671 |
| 103 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 0.92666693 |
| 104 | AR_21909140_ChIP-Seq_LNCAP_Human | 0.91823392 |
| 105 | * E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 0.91582844 |
| 106 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 0.91341165 |
| 107 | * GATA3_21878914_ChIP-Seq_MCF-7_Human | 0.90590740 |
| 108 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 0.90037796 |
| 109 | ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 0.88944207 |
| 110 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 0.88805558 |
| 111 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 0.88700895 |
| 112 | * NCOR_22424771_ChIP-Seq_293T_Human | 0.87365743 |
| 113 | OCT4_18692474_ChIP-Seq_MEFs_Mouse | 0.87340843 |
| 114 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 0.86850827 |
| 115 | IRF1_19129219_ChIP-ChIP_H3396_Human | 0.86276153 |
| 116 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 0.85708288 |
| 117 | SPI1_23547873_ChIP-Seq_NB4_Human | 0.85267148 |
| 118 | EWS_26573619_Chip-Seq_HEK293_Human | 0.85242735 |
| 119 | TBX5_21415370_ChIP-Seq_HL-1_Mouse | 0.84660381 |
| 120 | TAF2_19829295_ChIP-Seq_ESCs_Human | 0.84646146 |
| 121 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 0.84293435 |
| 122 | * KDM5A_27292631_Chip-Seq_BREAST_Human | 0.84278934 |
| 123 | MYC_18940864_ChIP-ChIP_HL60_Human | 0.84140331 |
| 124 | P53_21459846_ChIP-Seq_SAOS-2_Human | 0.82622012 |
| 125 | IGF1R_20145208_ChIP-Seq_DFB_Human | 0.81734435 |
| 126 | HTT_18923047_ChIP-ChIP_STHdh_Human | 0.81007361 |
| 127 | HOXB7_26014856_ChIP-Seq_BT474_Human | 0.79738540 |
| 128 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 0.79569421 |
| 129 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 0.79508970 |
| 130 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 0.79484989 |
| 131 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 0.78951435 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0002139_abnormal_hepatobiliary_system | 4.21805317 |
| 2 | MP0003806_abnormal_nucleotide_metabolis | 3.93719941 |
| 3 | MP0005365_abnormal_bile_salt | 3.42360983 |
| 4 | MP0005085_abnormal_gallbladder_physiolo | 3.03954365 |
| 5 | MP0005360_urolithiasis | 3.02272153 |
| 6 | MP0005083_abnormal_biliary_tract | 2.92192567 |
| 7 | MP0003186_abnormal_redox_activity | 2.85376787 |
| 8 | MP0003195_calcinosis | 2.76882941 |
| 9 | MP0005220_abnormal_exocrine_pancreas | 2.52820958 |
| 10 | MP0001666_abnormal_nutrient_absorption | 2.51555691 |
| 11 | MP0009379_abnormal_foot_pigmentation | 2.46800733 |
| 12 | MP0002876_abnormal_thyroid_physiology | 2.38693057 |
| 13 | MP0006292_abnormal_olfactory_placode | 2.38056510 |
| 14 | MP0000372_irregular_coat_pigmentation | 2.36102896 |
| 15 | MP0008875_abnormal_xenobiotic_pharmacok | 2.30787344 |
| 16 | MP0002163_abnormal_gland_morphology | 2.28613525 |
| 17 | MP0002102_abnormal_ear_morphology | 2.27831328 |
| 18 | MP0002837_dystrophic_cardiac_calcinosis | 2.17283047 |
| 19 | MP0002653_abnormal_ependyma_morphology | 2.11582363 |
| 20 | MP0003693_abnormal_embryo_hatching | 2.07745375 |
| 21 | MP0008438_abnormal_cutaneous_collagen | 2.03464942 |
| 22 | MP0003718_maternal_effect | 2.03314482 |
| 23 | MP0006054_spinal_hemorrhage | 2.02655846 |
| 24 | MP0004147_increased_porphyrin_level | 2.02141454 |
| 25 | MP0005084_abnormal_gallbladder_morpholo | 1.93822548 |
| 26 | MP0005551_abnormal_eye_electrophysiolog | 1.90370593 |
| 27 | MP0006072_abnormal_retinal_apoptosis | 1.87774771 |
| 28 | MP0002160_abnormal_reproductive_system | 1.85334577 |
| 29 | MP0008877_abnormal_DNA_methylation | 1.83127547 |
| 30 | MP0002736_abnormal_nociception_after | 1.82909578 |
| 31 | MP0003786_premature_aging | 1.80996858 |
| 32 | MP0008789_abnormal_olfactory_epithelium | 1.80609843 |
| 33 | MP0005332_abnormal_amino_acid | 1.80424467 |
| 34 | MP0001529_abnormal_vocalization | 1.75563360 |
| 35 | MP0005408_hypopigmentation | 1.75051749 |
| 36 | MP0001968_abnormal_touch/_nociception | 1.69578875 |
| 37 | MP0001905_abnormal_dopamine_level | 1.67022267 |
| 38 | MP0009840_abnormal_foam_cell | 1.66228186 |
| 39 | MP0001764_abnormal_homeostasis | 1.65681082 |
| 40 | MP0004957_abnormal_blastocyst_morpholog | 1.63482819 |
| 41 | MP0005503_abnormal_tendon_morphology | 1.60913387 |
| 42 | MP0010030_abnormal_orbit_morphology | 1.56535912 |
| 43 | MP0003011_delayed_dark_adaptation | 1.54253432 |
| 44 | MP0008872_abnormal_physiological_respon | 1.54209802 |
| 45 | MP0003252_abnormal_bile_duct | 1.52831934 |
| 46 | MP0005645_abnormal_hypothalamus_physiol | 1.52301651 |
| 47 | MP0010094_abnormal_chromosome_stability | 1.51111617 |
| 48 | MP0005646_abnormal_pituitary_gland | 1.48538062 |
| 49 | MP0003868_abnormal_feces_composition | 1.47557571 |
| 50 | MP0009643_abnormal_urine_homeostasis | 1.45452377 |
| 51 | MP0005389_reproductive_system_phenotype | 1.45274160 |
| 52 | MP0002938_white_spotting | 1.44494870 |
| 53 | MP0006035_abnormal_mitochondrial_morpho | 1.43199166 |
| 54 | MP0005253_abnormal_eye_physiology | 1.40819245 |
| 55 | MP0000678_abnormal_parathyroid_gland | 1.37352207 |
| 56 | MP0009046_muscle_twitch | 1.35726940 |
| 57 | MP0010329_abnormal_lipoprotein_level | 1.35178778 |
| 58 | MP0003787_abnormal_imprinting | 1.30343901 |
| 59 | MP0003122_maternal_imprinting | 1.30053764 |
| 60 | MP0005319_abnormal_enzyme/_coenzyme | 1.28078338 |
| 61 | MP0001984_abnormal_olfaction | 1.27346542 |
| 62 | MP0005499_abnormal_olfactory_system | 1.27279734 |
| 63 | MP0005394_taste/olfaction_phenotype | 1.27279734 |
| 64 | MP0009697_abnormal_copulation | 1.24140178 |
| 65 | MP0004142_abnormal_muscle_tone | 1.21409179 |
| 66 | MP0005410_abnormal_fertilization | 1.20482756 |
| 67 | MP0004019_abnormal_vitamin_homeostasis | 1.19764170 |
| 68 | MP0001944_abnormal_pancreas_morphology | 1.19522664 |
| 69 | MP0005636_abnormal_mineral_homeostasis | 1.19109576 |
| 70 | MP0003111_abnormal_nucleus_morphology | 1.12361489 |
| 71 | MP0005058_abnormal_lysosome_morphology | 1.10295770 |
| 72 | MP0003121_genomic_imprinting | 1.08665147 |
| 73 | MP0000613_abnormal_salivary_gland | 1.07716923 |
| 74 | MP0006036_abnormal_mitochondrial_physio | 1.05795407 |
| 75 | MP0002132_abnormal_respiratory_system | 1.05570562 |
| 76 | MP0002693_abnormal_pancreas_physiology | 1.05544142 |
| 77 | MP0000598_abnormal_liver_morphology | 1.05375591 |
| 78 | MP0008007_abnormal_cellular_replicative | 1.05105725 |
| 79 | MP0003191_abnormal_cellular_cholesterol | 1.04743209 |
| 80 | MP0003123_paternal_imprinting | 1.04309850 |
| 81 | MP0004782_abnormal_surfactant_physiolog | 1.03166334 |
| 82 | MP0002638_abnormal_pupillary_reflex | 1.02234217 |
| 83 | MP0000609_abnormal_liver_physiology | 1.02071878 |
| 84 | MP0006276_abnormal_autonomic_nervous | 1.01709533 |
| 85 | MP0002254_reproductive_system_inflammat | 0.99583932 |
| 86 | MP0008058_abnormal_DNA_repair | 0.99108338 |
| 87 | MP0005379_endocrine/exocrine_gland_phen | 0.98469365 |
| 88 | MP0000049_abnormal_middle_ear | 0.96724208 |
| 89 | MP0002138_abnormal_hepatobiliary_system | 0.93566386 |
| 90 | MP0000490_abnormal_crypts_of | 0.93506968 |
| 91 | MP0008469_abnormal_protein_level | 0.93130224 |
| 92 | MP0001986_abnormal_taste_sensitivity | 0.91390551 |
| 93 | MP0003724_increased_susceptibility_to | 0.91227400 |
| 94 | MP0008932_abnormal_embryonic_tissue | 0.90805594 |
| 95 | MP0004133_heterotaxia | 0.90559565 |
| 96 | MP0001919_abnormal_reproductive_system | 0.90364726 |
| 97 | MP0002210_abnormal_sex_determination | 0.89531770 |
| 98 | MP0001929_abnormal_gametogenesis | 0.89287644 |
| 99 | MP0000681_abnormal_thyroid_gland | 0.88033774 |
| 100 | MP0001542_abnormal_bone_strength | 0.86264524 |
| 101 | MP0003077_abnormal_cell_cycle | 0.85417626 |
| 102 | MP0003942_abnormal_urinary_system | 0.84713013 |
| 103 | MP0008995_early_reproductive_senescence | 0.83709804 |
| 104 | MP0003436_decreased_susceptibility_to | 0.82692638 |
| 105 | MP0002234_abnormal_pharynx_morphology | 0.82680157 |
| 106 | MP0002095_abnormal_skin_pigmentation | 0.81636695 |
| 107 | MP0010386_abnormal_urinary_bladder | 0.81495560 |
| 108 | MP0001756_abnormal_urination | 0.81280672 |
| 109 | MP0000631_abnormal_neuroendocrine_gland | 0.80853534 |
| 110 | MP0001485_abnormal_pinna_reflex | 0.80273460 |
| 111 | MP0001853_heart_inflammation | 0.80269533 |
| 112 | MP0005023_abnormal_wound_healing | 0.80203765 |
| 113 | MP0000653_abnormal_sex_gland | 0.79789071 |
| 114 | MP0005376_homeostasis/metabolism_phenot | 0.79227856 |
| 115 | MP0004264_abnormal_extraembryonic_tissu | 0.79174821 |
| 116 | MP0005275_abnormal_skin_tensile | 0.79138646 |
| 117 | MP0003137_abnormal_impulse_conducting | 0.78674044 |
| 118 | MP0002295_abnormal_pulmonary_circulatio | 0.78572296 |
| 119 | MP0003959_abnormal_lean_body | 0.78041300 |
| 120 | MP0001145_abnormal_male_reproductive | 0.77938965 |
| 121 | MP0000858_altered_metastatic_potential | 0.77906767 |
| 122 | MP0000163_abnormal_cartilage_morphology | 0.77269515 |
| 123 | MP0002909_abnormal_adrenal_gland | 0.77017321 |
| 124 | MP0000647_abnormal_sebaceous_gland | 0.76996125 |
| 125 | MP0010368_abnormal_lymphatic_system | 0.76689211 |
| 126 | MP0002118_abnormal_lipid_homeostasis | 0.75348690 |
| 127 | MP0003136_yellow_coat_color | 0.75321452 |
| 128 | MP0002090_abnormal_vision | 0.74845384 |
| 129 | MP0009745_abnormal_behavioral_response | 0.74114468 |
| 130 | MP0003279_aneurysm | 0.74108001 |
| 131 | MP0003698_abnormal_male_reproductive | 0.74045031 |
| 132 | MP0004043_abnormal_pH_regulation | 0.73576180 |
| 133 | MP0001293_anophthalmia | 0.73355884 |
| 134 | MP0005075_abnormal_melanosome_morpholog | 0.72580771 |
| 135 | MP0003878_abnormal_ear_physiology | 0.72189533 |
| 136 | MP0005377_hearing/vestibular/ear_phenot | 0.72189533 |
| 137 | MP0005195_abnormal_posterior_eye | 0.71797596 |
| 138 | MP0003638_abnormal_response/metabolism_ | 0.71022820 |
| 139 | MP0009053_abnormal_anal_canal | 0.70251305 |
| 140 | MP0000358_abnormal_cell_content/ | 0.68859069 |
| 141 | MP0002282_abnormal_trachea_morphology | 0.68629403 |
| 142 | MP0001270_distended_abdomen | 0.68076761 |
| 143 | MP0005508_abnormal_skeleton_morphology | 0.66808667 |
| 144 | MP0000538_abnormal_urinary_bladder | 0.66597694 |
| 145 | MP0009642_abnormal_blood_homeostasis | 0.65836834 |
| 146 | MP0009763_increased_sensitivity_to | 0.65039792 |
| 147 | MP0005584_abnormal_enzyme/coenzyme_acti | 0.64606922 |
| 148 | MP0001243_abnormal_dermal_layer | 0.64305189 |
| 149 | MP0003119_abnormal_digestive_system | 0.62872061 |
| 150 | MP0009384_cardiac_valve_regurgitation | 0.62805534 |
| 151 | MP0002060_abnormal_skin_morphology | 0.62454422 |
| 152 | MP0001835_abnormal_antigen_presentation | 0.62447521 |
| 153 | MP0009765_abnormal_xenobiotic_induced | 0.61931928 |
| 154 | MP0005390_skeleton_phenotype | 0.61924460 |
| 155 | MP0005164_abnormal_response_to | 0.61909788 |
| 156 | MP0001533_abnormal_skeleton_physiology | 0.61822391 |
| 157 | MP0009333_abnormal_splenocyte_physiolog | 0.61286556 |
| 158 | MP0002135_abnormal_kidney_morphology | 0.61243054 |
| 159 | MP0009785_altered_susceptibility_to | 0.60816797 |
| 160 | MP0004272_abnormal_basement_membrane | 0.60457232 |
| 161 | MP0003795_abnormal_bone_structure | 0.59870715 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 4.73521252 |
| 2 | Abnormality of cells of the erythroid lineage (HP:0012130) | 4.07086441 |
| 3 | Abnormal number of erythroid precursors (HP:0012131) | 3.84458854 |
| 4 | Reticulocytopenia (HP:0001896) | 3.70246271 |
| 5 | Abnormality of the intrinsic pathway (HP:0010989) | 3.36683347 |
| 6 | Hepatic necrosis (HP:0002605) | 3.29125581 |
| 7 | Hypoglycemic coma (HP:0001325) | 3.26652666 |
| 8 | Prolonged partial thromboplastin time (HP:0003645) | 3.25440695 |
| 9 | Type I transferrin isoform profile (HP:0003642) | 3.20380397 |
| 10 | Abnormality of monocarboxylic acid metabolism (HP:0010996) | 3.20112208 |
| 11 | Macrocytic anemia (HP:0001972) | 3.14024122 |
| 12 | Abnormality of alanine metabolism (HP:0010916) | 3.03550260 |
| 13 | Hyperalaninemia (HP:0003348) | 3.03550260 |
| 14 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 3.03550260 |
| 15 | Intrahepatic cholestasis (HP:0001406) | 2.99668081 |
| 16 | Reduced antithrombin III activity (HP:0001976) | 2.96830571 |
| 17 | Pancreatic cysts (HP:0001737) | 2.96501590 |
| 18 | Hepatocellular necrosis (HP:0001404) | 2.96349423 |
| 19 | Mitochondrial inheritance (HP:0001427) | 2.94625897 |
| 20 | Lipid accumulation in hepatocytes (HP:0006561) | 2.92072136 |
| 21 | Acute encephalopathy (HP:0006846) | 2.87931401 |
| 22 | Acute necrotizing encephalopathy (HP:0006965) | 2.83023736 |
| 23 | Abnormality of midbrain morphology (HP:0002418) | 2.82537155 |
| 24 | Molar tooth sign on MRI (HP:0002419) | 2.82537155 |
| 25 | Generalized aminoaciduria (HP:0002909) | 2.82529760 |
| 26 | Hypobetalipoproteinemia (HP:0003563) | 2.81906263 |
| 27 | Pancreatic fibrosis (HP:0100732) | 2.75870711 |
| 28 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 2.75718414 |
| 29 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 2.75718414 |
| 30 | Renal Fanconi syndrome (HP:0001994) | 2.73733172 |
| 31 | Aplastic anemia (HP:0001915) | 2.73094790 |
| 32 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.70249131 |
| 33 | Increased hepatocellular lipid droplets (HP:0006565) | 2.69459309 |
| 34 | Respiratory failure (HP:0002878) | 2.67311155 |
| 35 | Abnormality of long-chain fatty-acid metabolism (HP:0010964) | 2.67018102 |
| 36 | Abnormal mitochondria in muscle tissue (HP:0008316) | 2.65146034 |
| 37 | Beaking of vertebral bodies (HP:0004568) | 2.61873470 |
| 38 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 2.58836227 |
| 39 | Abnormal protein N-linked glycosylation (HP:0012347) | 2.58836227 |
| 40 | Abnormal protein glycosylation (HP:0012346) | 2.58836227 |
| 41 | Abnormal glycosylation (HP:0012345) | 2.58836227 |
| 42 | Fat malabsorption (HP:0002630) | 2.58700385 |
| 43 | Abnormality of the common coagulation pathway (HP:0010990) | 2.58241099 |
| 44 | Methylmalonic aciduria (HP:0012120) | 2.56768631 |
| 45 | Abnormal hemoglobin (HP:0011902) | 2.56049551 |
| 46 | Increased CSF lactate (HP:0002490) | 2.54996928 |
| 47 | Vacuolated lymphocytes (HP:0001922) | 2.53897159 |
| 48 | Pallor (HP:0000980) | 2.52987312 |
| 49 | Delayed CNS myelination (HP:0002188) | 2.50324380 |
| 50 | Optic disc pallor (HP:0000543) | 2.50311226 |
| 51 | Cerebral edema (HP:0002181) | 2.49180021 |
| 52 | Abnormality of urine glucose concentration (HP:0011016) | 2.48576940 |
| 53 | Glycosuria (HP:0003076) | 2.48576940 |
| 54 | Late onset (HP:0003584) | 2.47064657 |
| 55 | Increased intramyocellular lipid droplets (HP:0012240) | 2.45078696 |
| 56 | Opisthotonus (HP:0002179) | 2.45044466 |
| 57 | Increased muscle lipid content (HP:0009058) | 2.43904516 |
| 58 | Hypoglycemic seizures (HP:0002173) | 2.42032347 |
| 59 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 2.40262206 |
| 60 | Poor head control (HP:0002421) | 2.39370983 |
| 61 | Steatorrhea (HP:0002570) | 2.37139057 |
| 62 | Abnormality of fatty-acid metabolism (HP:0004359) | 2.36960697 |
| 63 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 2.32589307 |
| 64 | Medial flaring of the eyebrow (HP:0010747) | 2.31978127 |
| 65 | Microretrognathia (HP:0000308) | 2.31908869 |
| 66 | Increased serum pyruvate (HP:0003542) | 2.29573782 |
| 67 | True hermaphroditism (HP:0010459) | 2.29561626 |
| 68 | Abnormality of serum amino acid levels (HP:0003112) | 2.28235490 |
| 69 | Multiple enchondromatosis (HP:0005701) | 2.26290289 |
| 70 | CNS demyelination (HP:0007305) | 2.24921242 |
| 71 | Abnormal tarsal ossification (HP:0008369) | 2.22479859 |
| 72 | Ketosis (HP:0001946) | 2.22033488 |
| 73 | Increased serum lactate (HP:0002151) | 2.21959942 |
| 74 | Ketoacidosis (HP:0001993) | 2.21327826 |
| 75 | Redundant skin (HP:0001582) | 2.20096597 |
| 76 | Biconcave vertebral bodies (HP:0004586) | 2.19331893 |
| 77 | Symptomatic seizures (HP:0011145) | 2.18272454 |
| 78 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 2.18029703 |
| 79 | Type II lissencephaly (HP:0007260) | 2.18005044 |
| 80 | Methylmalonic acidemia (HP:0002912) | 2.17398385 |
| 81 | Lethargy (HP:0001254) | 2.16608279 |
| 82 | Abnormality of dicarboxylic acid metabolism (HP:0010995) | 2.16416248 |
| 83 | Dicarboxylic aciduria (HP:0003215) | 2.16416248 |
| 84 | Hyperphosphaturia (HP:0003109) | 2.16167321 |
| 85 | Oral leukoplakia (HP:0002745) | 2.15943598 |
| 86 | Exertional dyspnea (HP:0002875) | 2.15312905 |
| 87 | Abnormal cartilage morphology (HP:0002763) | 2.15287225 |
| 88 | Bile duct proliferation (HP:0001408) | 2.10786417 |
| 89 | Abnormal biliary tract physiology (HP:0012439) | 2.10786417 |
| 90 | Lactic acidosis (HP:0003128) | 2.10416003 |
| 91 | Leukodystrophy (HP:0002415) | 2.10333481 |
| 92 | Thrombocytosis (HP:0001894) | 2.08158561 |
| 93 | Abnormality of glycolysis (HP:0004366) | 2.06986036 |
| 94 | Abnormality of pyrimidine metabolism (HP:0004353) | 2.06684112 |
| 95 | Nausea (HP:0002018) | 2.06513594 |
| 96 | Abnormality of serine family amino acid metabolism (HP:0010894) | 2.06194422 |
| 97 | Abnormality of glycine metabolism (HP:0010895) | 2.06194422 |
| 98 | Congenital stationary night blindness (HP:0007642) | 2.03101880 |
| 99 | Hyperglycinemia (HP:0002154) | 2.02536995 |
| 100 | Abnormality of the anterior horn cell (HP:0006802) | 2.01994631 |
| 101 | Degeneration of anterior horn cells (HP:0002398) | 2.01994631 |
| 102 | Progressive macrocephaly (HP:0004481) | 2.01971741 |
| 103 | Cerebral hypomyelination (HP:0006808) | 2.01586833 |
| 104 | 11 pairs of ribs (HP:0000878) | 2.00519228 |
| 105 | Deep venous thrombosis (HP:0002625) | 2.00124994 |
| 106 | Hyperammonemia (HP:0001987) | 1.99963433 |
| 107 | Conjugated hyperbilirubinemia (HP:0002908) | 1.98449985 |
| 108 | Nephronophthisis (HP:0000090) | 1.98374277 |
| 109 | Sclerocornea (HP:0000647) | 1.97624461 |
| 110 | Vertebral compression fractures (HP:0002953) | 1.95702187 |
| 111 | Aplasia/hypoplasia of the uterus (HP:0008684) | 1.94079519 |
| 112 | Xanthomatosis (HP:0000991) | 1.93317002 |
| 113 | Testicular atrophy (HP:0000029) | 1.90206320 |
| 114 | Abolished electroretinogram (ERG) (HP:0000550) | 1.90179349 |
| 115 | Abnormality of methionine metabolism (HP:0010901) | 1.89683210 |
| 116 | Pendular nystagmus (HP:0012043) | 1.89521153 |
| 117 | Hyperbilirubinemia (HP:0002904) | 1.88967961 |
| 118 | Exercise intolerance (HP:0003546) | 1.87069080 |
| 119 | Congenital primary aphakia (HP:0007707) | 1.86604235 |
| 120 | Microvesicular hepatic steatosis (HP:0001414) | 1.86476198 |
| 121 | Abnormal pancreas size (HP:0012094) | 1.85791416 |
| 122 | Protrusio acetabuli (HP:0003179) | 1.85661995 |
| 123 | Abnormality of the labia minora (HP:0012880) | 1.84995764 |
| 124 | Trismus (HP:0000211) | 1.84654745 |
| 125 | Colon cancer (HP:0003003) | 1.83247321 |
| 126 | Abnormality of renal resorption (HP:0011038) | 1.83044790 |
| 127 | Hyperinsulinemic hypoglycemia (HP:0000825) | 1.82677574 |
| 128 | Abnormality of the renal cortex (HP:0011035) | 1.81902349 |
| 129 | Proximal tubulopathy (HP:0000114) | 1.79291746 |
| 130 | Rough bone trabeculation (HP:0100670) | 1.79180310 |
| 131 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 1.78368503 |
| 132 | 3-Methylglutaconic aciduria (HP:0003535) | 1.78215799 |
| 133 | Brushfield spots (HP:0001088) | 1.77459124 |
| 134 | Hyperglycinuria (HP:0003108) | 1.77425782 |
| 135 | Gait imbalance (HP:0002141) | 1.77206340 |
| 136 | Pancytopenia (HP:0001876) | 1.77163460 |
| 137 | Absent thumb (HP:0009777) | 1.76986502 |
| 138 | Renal cortical cysts (HP:0000803) | 1.76459506 |
| 139 | Abnormality of endocrine pancreas physiology (HP:0012093) | 1.75770885 |
| 140 | Large for gestational age (HP:0001520) | 1.72958745 |
| 141 | Blindness (HP:0000618) | 1.72946223 |
| 142 | Respiratory difficulties (HP:0002880) | 1.71952566 |
| 143 | X-linked dominant inheritance (HP:0001423) | 1.69778377 |
| 144 | Emotional lability (HP:0000712) | 1.68821823 |
| 145 | Adrenal hypoplasia (HP:0000835) | 1.67268456 |
| 146 | Retinal dysplasia (HP:0007973) | 1.66672163 |
| 147 | Nephrogenic diabetes insipidus (HP:0009806) | 1.66296920 |
| 148 | Progressive microcephaly (HP:0000253) | 1.66237592 |
| 149 | Severe muscular hypotonia (HP:0006829) | 1.66126265 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BCKDK | 4.37509940 |
| 2 | NME2 | 3.93772748 |
| 3 | STK16 | 3.79907573 |
| 4 | VRK2 | 3.31616600 |
| 5 | PASK | 3.05333534 |
| 6 | EIF2AK3 | 2.89190802 |
| 7 | MAP4K2 | 2.79955723 |
| 8 | BUB1 | 2.70208943 |
| 9 | ERN1 | 2.66419607 |
| 10 | FLT3 | 2.17013407 |
| 11 | ADRBK2 | 2.16242298 |
| 12 | VRK1 | 2.10260077 |
| 13 | PIM2 | 2.06435238 |
| 14 | PDK2 | 2.04312745 |
| 15 | NUAK1 | 1.99640048 |
| 16 | BRSK2 | 1.89524622 |
| 17 | TGFBR1 | 1.89417403 |
| 18 | EIF2AK1 | 1.89373319 |
| 19 | WEE1 | 1.89070196 |
| 20 | PBK | 1.67223971 |
| 21 | CSNK1G3 | 1.62809828 |
| 22 | KDR | 1.60733839 |
| 23 | PIK3CG | 1.59529365 |
| 24 | SRPK1 | 1.58908700 |
| 25 | CDK8 | 1.58228602 |
| 26 | TLK1 | 1.56083851 |
| 27 | IRAK3 | 1.50375643 |
| 28 | MAPK15 | 1.44976279 |
| 29 | CSNK1G1 | 1.42795896 |
| 30 | RPS6KB2 | 1.40535320 |
| 31 | IRAK4 | 1.38805444 |
| 32 | NEK1 | 1.36800509 |
| 33 | PINK1 | 1.36595338 |
| 34 | SCYL2 | 1.34558013 |
| 35 | TAOK3 | 1.33993238 |
| 36 | TESK2 | 1.31633999 |
| 37 | RPS6KA4 | 1.29422888 |
| 38 | TESK1 | 1.26426460 |
| 39 | PAK4 | 1.21579791 |
| 40 | CSNK1A1L | 1.21513664 |
| 41 | NME1 | 1.20586869 |
| 42 | CSNK1G2 | 1.19409492 |
| 43 | EPHA2 | 1.19006558 |
| 44 | ABL2 | 1.17917248 |
| 45 | MAP3K3 | 1.13491622 |
| 46 | DYRK3 | 1.09289931 |
| 47 | ACVR1B | 1.03783376 |
| 48 | MAP3K12 | 1.02880795 |
| 49 | INSRR | 1.02457983 |
| 50 | MAP3K11 | 1.01625100 |
| 51 | IRAK1 | 1.00652488 |
| 52 | MYLK | 1.00172230 |
| 53 | LRRK2 | 1.00147861 |
| 54 | MST4 | 0.99008884 |
| 55 | MAP2K2 | 0.98394679 |
| 56 | PLK3 | 0.96919908 |
| 57 | CDK7 | 0.96241734 |
| 58 | NLK | 0.96122046 |
| 59 | DAPK1 | 0.95400114 |
| 60 | MAP2K7 | 0.94789561 |
| 61 | CDK19 | 0.94410743 |
| 62 | TRIM28 | 0.94289555 |
| 63 | TEC | 0.93185596 |
| 64 | BMPR1B | 0.92025975 |
| 65 | OXSR1 | 0.90377977 |
| 66 | MAPKAPK3 | 0.89724121 |
| 67 | PLK4 | 0.89391164 |
| 68 | BTK | 0.88381958 |
| 69 | PHKG1 | 0.88370384 |
| 70 | PHKG2 | 0.88370384 |
| 71 | AURKB | 0.86435124 |
| 72 | MAP2K3 | 0.85217038 |
| 73 | PIK3CA | 0.81180008 |
| 74 | TBK1 | 0.80027154 |
| 75 | MST1R | 0.79960576 |
| 76 | ZAP70 | 0.78525706 |
| 77 | IRAK2 | 0.77332819 |
| 78 | CHEK2 | 0.77009897 |
| 79 | TYK2 | 0.76413705 |
| 80 | LIMK1 | 0.73305369 |
| 81 | SIK1 | 0.73293495 |
| 82 | EPHB2 | 0.72297438 |
| 83 | BRAF | 0.72214680 |
| 84 | CSNK2A1 | 0.71707609 |
| 85 | STK39 | 0.71054633 |
| 86 | DYRK2 | 0.70689259 |
| 87 | MET | 0.70604443 |
| 88 | AURKA | 0.68908239 |
| 89 | NEK9 | 0.67782811 |
| 90 | PLK2 | 0.67037685 |
| 91 | PRKG2 | 0.66734286 |
| 92 | MAPKAPK5 | 0.66465902 |
| 93 | PRKCG | 0.65605388 |
| 94 | PAK3 | 0.65123294 |
| 95 | PLK1 | 0.64700312 |
| 96 | CSNK1A1 | 0.64178480 |
| 97 | DYRK1B | 0.63642821 |
| 98 | TXK | 0.63597278 |
| 99 | TSSK6 | 0.61771711 |
| 100 | KIT | 0.61489373 |
| 101 | ILK | 0.61108020 |
| 102 | PRKCI | 0.60042485 |
| 103 | ZAK | 0.59068859 |
| 104 | MAP2K6 | 0.58989412 |
| 105 | MKNK1 | 0.57630750 |
| 106 | CSNK2A2 | 0.57252435 |
| 107 | ARAF | 0.56421353 |
| 108 | TTK | 0.56009509 |
| 109 | YES1 | 0.55765904 |
| 110 | WNK3 | 0.55663624 |
| 111 | TAOK2 | 0.54528212 |
| 112 | IKBKB | 0.54340427 |
| 113 | ADRBK1 | 0.53748942 |
| 114 | RPS6KA5 | 0.51350031 |
| 115 | BRSK1 | 0.51136245 |
| 116 | DAPK3 | 0.51109295 |
| 117 | PRKCE | 0.50011164 |
| 118 | CDC7 | 0.48150837 |
| 119 | BLK | 0.46653762 |
| 120 | CAMK2D | 0.46201079 |
| 121 | ATR | 0.46119535 |
| 122 | MAP3K8 | 0.45718639 |
| 123 | EIF2AK2 | 0.43369543 |
| 124 | PTK6 | 0.42617968 |
| 125 | MKNK2 | 0.41592094 |
| 126 | ATM | 0.40264006 |
| 127 | ERBB3 | 0.39587249 |
| 128 | WNK4 | 0.38401836 |
| 129 | CSNK1E | 0.38153691 |
| 130 | FRK | 0.37149516 |
| 131 | PAK2 | 0.36582568 |
| 132 | MUSK | 0.36105314 |
| 133 | PAK1 | 0.35985082 |
| 134 | PIM1 | 0.35953116 |
| 135 | TGFBR2 | 0.35273102 |
| 136 | LYN | 0.34986172 |
| 137 | JAK3 | 0.34234286 |
| 138 | PRKACA | 0.34169510 |
| 139 | CAMK2G | 0.33548959 |
| 140 | TNIK | 0.33443754 |
| 141 | AKT2 | 0.33332102 |
| 142 | FER | 0.33289264 |
| 143 | TIE1 | 0.32420913 |
| 144 | MAP3K4 | 0.32278334 |
| 145 | GRK1 | 0.30986345 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Ribosome_Homo sapiens_hsa03010 | 4.16247550 |
| 2 | Protein export_Homo sapiens_hsa03060 | 4.09767946 |
| 3 | Proteasome_Homo sapiens_hsa03050 | 2.88532071 |
| 4 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.58921506 |
| 5 | Folate biosynthesis_Homo sapiens_hsa00790 | 2.37526972 |
| 6 | DNA replication_Homo sapiens_hsa03030 | 2.12076057 |
| 7 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 2.07792539 |
| 8 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 2.06676428 |
| 9 | RNA polymerase_Homo sapiens_hsa03020 | 1.95245960 |
| 10 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.90909627 |
| 11 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 1.85710805 |
| 12 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 1.84457678 |
| 13 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.83277019 |
| 14 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.82045800 |
| 15 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.80439318 |
| 16 | Mismatch repair_Homo sapiens_hsa03430 | 1.73398806 |
| 17 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.73337802 |
| 18 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.66303934 |
| 19 | Parkinsons disease_Homo sapiens_hsa05012 | 1.52768424 |
| 20 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.48431588 |
| 21 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.47759788 |
| 22 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.47257932 |
| 23 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.45349563 |
| 24 | Spliceosome_Homo sapiens_hsa03040 | 1.45111065 |
| 25 | Base excision repair_Homo sapiens_hsa03410 | 1.43563556 |
| 26 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.39847831 |
| 27 | Sulfur relay system_Homo sapiens_hsa04122 | 1.39786318 |
| 28 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 1.38327291 |
| 29 | Peroxisome_Homo sapiens_hsa04146 | 1.38125143 |
| 30 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 1.37937544 |
| 31 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.34994150 |
| 32 | Homologous recombination_Homo sapiens_hsa03440 | 1.33244416 |
| 33 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.30949192 |
| 34 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.30715658 |
| 35 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.27207816 |
| 36 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.25116388 |
| 37 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.24686480 |
| 38 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.24118642 |
| 39 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 1.22811324 |
| 40 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.15207112 |
| 41 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.14484283 |
| 42 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.14141140 |
| 43 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.13627771 |
| 44 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.11080432 |
| 45 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.09413076 |
| 46 | Histidine metabolism_Homo sapiens_hsa00340 | 1.09191737 |
| 47 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.08929715 |
| 48 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.08257808 |
| 49 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 1.06870980 |
| 50 | Huntingtons disease_Homo sapiens_hsa05016 | 1.04661391 |
| 51 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.04484230 |
| 52 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.03916483 |
| 53 | Other glycan degradation_Homo sapiens_hsa00511 | 1.03469211 |
| 54 | Retinol metabolism_Homo sapiens_hsa00830 | 1.01039460 |
| 55 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 1.00048862 |
| 56 | Phototransduction_Homo sapiens_hsa04744 | 0.97638117 |
| 57 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.96499971 |
| 58 | Galactose metabolism_Homo sapiens_hsa00052 | 0.95970357 |
| 59 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.95111300 |
| 60 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.95082950 |
| 61 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.94494965 |
| 62 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.94343431 |
| 63 | Alzheimers disease_Homo sapiens_hsa05010 | 0.92135054 |
| 64 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.91727887 |
| 65 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.91688885 |
| 66 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.90572647 |
| 67 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.86462198 |
| 68 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.83456314 |
| 69 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.83446459 |
| 70 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.83424467 |
| 71 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.83132804 |
| 72 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.82792705 |
| 73 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.82268181 |
| 74 | Metabolic pathways_Homo sapiens_hsa01100 | 0.78440625 |
| 75 | RNA transport_Homo sapiens_hsa03013 | 0.78380669 |
| 76 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.78312072 |
| 77 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.78168817 |
| 78 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.74585821 |
| 79 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.74143112 |
| 80 | Carbon metabolism_Homo sapiens_hsa01200 | 0.72881900 |
| 81 | Purine metabolism_Homo sapiens_hsa00230 | 0.70585639 |
| 82 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.69559739 |
| 83 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.69196534 |
| 84 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.67143565 |
| 85 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.65765868 |
| 86 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.65231242 |
| 87 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.64547661 |
| 88 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.63019424 |
| 89 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.62779391 |
| 90 | RNA degradation_Homo sapiens_hsa03018 | 0.61015580 |
| 91 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.60263924 |
| 92 | Legionellosis_Homo sapiens_hsa05134 | 0.58837341 |
| 93 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.57129588 |
| 94 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.56153351 |
| 95 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.54908680 |
| 96 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.53323159 |
| 97 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.52619076 |
| 98 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.51861975 |
| 99 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.50957527 |
| 100 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.50498744 |
| 101 | Basal transcription factors_Homo sapiens_hsa03022 | 0.50017576 |
| 102 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.48227176 |
| 103 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.47085885 |
| 104 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.46800879 |
| 105 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.45707416 |
| 106 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.45591862 |
| 107 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.41589485 |
| 108 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.40244854 |
| 109 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.39880674 |
| 110 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.39079291 |
| 111 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.38241458 |
| 112 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.37766673 |
| 113 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.36740139 |
| 114 | Cell cycle_Homo sapiens_hsa04110 | 0.35737566 |
| 115 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.33765233 |
| 116 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 0.33615780 |
| 117 | Mineral absorption_Homo sapiens_hsa04978 | 0.31607094 |

