

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 5.38585589 |
| 2 | SRP-dependent cotranslational protein targeting to membrane (GO:0006614) | 5.08819152 |
| 3 | cotranslational protein targeting to membrane (GO:0006613) | 5.08816300 |
| 4 | signal peptide processing (GO:0006465) | 5.03742471 |
| 5 | protein targeting to ER (GO:0045047) | 5.02705433 |
| 6 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 5.01594858 |
| 7 | GDP-mannose metabolic process (GO:0019673) | 4.94239977 |
| 8 | behavioral response to nicotine (GO:0035095) | 4.88945990 |
| 9 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 4.85841356 |
| 10 | ATP synthesis coupled proton transport (GO:0015986) | 4.85841356 |
| 11 | protein localization to endoplasmic reticulum (GO:0070972) | 4.83828346 |
| 12 | establishment of protein localization to endoplasmic reticulum (GO:0072599) | 4.79727896 |
| 13 | respiratory chain complex IV assembly (GO:0008535) | 4.71449822 |
| 14 | protein complex biogenesis (GO:0070271) | 4.65125432 |
| 15 | viral transcription (GO:0019083) | 4.57643518 |
| 16 | respiratory electron transport chain (GO:0022904) | 4.51627924 |
| 17 | ribosomal small subunit biogenesis (GO:0042274) | 4.48923333 |
| 18 | electron transport chain (GO:0022900) | 4.44253697 |
| 19 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 4.37716818 |
| 20 | translational termination (GO:0006415) | 4.37525403 |
| 21 | GTP biosynthetic process (GO:0006183) | 4.37177327 |
| 22 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 4.36215024 |
| 23 | NADH dehydrogenase complex assembly (GO:0010257) | 4.36215024 |
| 24 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 4.36215024 |
| 25 | epithelial cilium movement (GO:0003351) | 4.34766991 |
| 26 | mannosylation (GO:0097502) | 4.13408409 |
| 27 | mitochondrial respiratory chain complex assembly (GO:0033108) | 4.09047395 |
| 28 | ribosomal small subunit assembly (GO:0000028) | 4.04985196 |
| 29 | cytochrome complex assembly (GO:0017004) | 4.01555617 |
| 30 | chaperone-mediated protein transport (GO:0072321) | 4.01043262 |
| 31 | platelet dense granule organization (GO:0060155) | 3.99016083 |
| 32 | response to pheromone (GO:0019236) | 3.97692341 |
| 33 | axoneme assembly (GO:0035082) | 3.90258730 |
| 34 | cilium movement (GO:0003341) | 3.90134984 |
| 35 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 3.84806235 |
| 36 | GPI anchor biosynthetic process (GO:0006506) | 3.82504803 |
| 37 | DNA deamination (GO:0045006) | 3.77849816 |
| 38 | proteasome assembly (GO:0043248) | 3.72796519 |
| 39 | positive regulation of cellular amine metabolic process (GO:0033240) | 3.68801936 |
| 40 | regulation of cilium movement (GO:0003352) | 3.68615488 |
| 41 | fucose catabolic process (GO:0019317) | 3.64934220 |
| 42 | L-fucose metabolic process (GO:0042354) | 3.64934220 |
| 43 | L-fucose catabolic process (GO:0042355) | 3.64934220 |
| 44 | protein neddylation (GO:0045116) | 3.63744911 |
| 45 | presynaptic membrane assembly (GO:0097105) | 3.61623932 |
| 46 | nonmotile primary cilium assembly (GO:0035058) | 3.61151591 |
| 47 | guanosine-containing compound biosynthetic process (GO:1901070) | 3.59042727 |
| 48 | protein maturation by protein folding (GO:0022417) | 3.56808517 |
| 49 | cellular ketone body metabolic process (GO:0046950) | 3.49382060 |
| 50 | axonemal dynein complex assembly (GO:0070286) | 3.49031603 |
| 51 | viral life cycle (GO:0019058) | 3.46174695 |
| 52 | protein-cofactor linkage (GO:0018065) | 3.46071556 |
| 53 | translational elongation (GO:0006414) | 3.45814142 |
| 54 | dolichol-linked oligosaccharide biosynthetic process (GO:0006488) | 3.45082170 |
| 55 | UTP biosynthetic process (GO:0006228) | 3.44753833 |
| 56 | GPI anchor metabolic process (GO:0006505) | 3.39849738 |
| 57 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.37752023 |
| 58 | water-soluble vitamin biosynthetic process (GO:0042364) | 3.37012057 |
| 59 | cellular protein complex disassembly (GO:0043624) | 3.35494057 |
| 60 | ubiquinone biosynthetic process (GO:0006744) | 3.35067424 |
| 61 | termination of RNA polymerase III transcription (GO:0006386) | 3.33353925 |
| 62 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 3.33353925 |
| 63 | translation (GO:0006412) | 3.33290039 |
| 64 | protein targeting to membrane (GO:0006612) | 3.29343198 |
| 65 | detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) | 3.26740290 |
| 66 | ketone body metabolic process (GO:1902224) | 3.17543074 |
| 67 | regulation of oxidative phosphorylation (GO:0002082) | 3.14668523 |
| 68 | regulation of metalloenzyme activity (GO:0048552) | 3.14504062 |
| 69 | C-terminal protein lipidation (GO:0006501) | 3.11048885 |
| 70 | presynaptic membrane organization (GO:0097090) | 3.10693118 |
| 71 | cilium morphogenesis (GO:0060271) | 3.08717919 |
| 72 | nucleoside diphosphate catabolic process (GO:0009134) | 3.07108048 |
| 73 | postsynaptic membrane organization (GO:0001941) | 3.06311562 |
| 74 | UTP metabolic process (GO:0046051) | 3.06260627 |
| 75 | ubiquinone metabolic process (GO:0006743) | 3.04878006 |
| 76 | negative regulation of telomere maintenance (GO:0032205) | 3.03907453 |
| 77 | CTP biosynthetic process (GO:0006241) | 3.03000074 |
| 78 | CTP metabolic process (GO:0046036) | 3.03000074 |
| 79 | regulation of mitochondrial translation (GO:0070129) | 3.02184267 |
| 80 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.01281932 |
| 81 | indole-containing compound catabolic process (GO:0042436) | 3.01186499 |
| 82 | indolalkylamine catabolic process (GO:0046218) | 3.01186499 |
| 83 | tryptophan catabolic process (GO:0006569) | 3.01186499 |
| 84 | magnesium ion transport (GO:0015693) | 2.98501881 |
| 85 | deoxyribonucleoside diphosphate metabolic process (GO:0009186) | 2.93996582 |
| 86 | protein polyglutamylation (GO:0018095) | 2.93251301 |
| 87 | sphingoid metabolic process (GO:0046519) | 2.92132803 |
| 88 | C-terminal protein amino acid modification (GO:0018410) | 2.90193304 |
| 89 | axon ensheathment in central nervous system (GO:0032291) | 2.89902441 |
| 90 | central nervous system myelination (GO:0022010) | 2.89902441 |
| 91 | translational initiation (GO:0006413) | 2.89847630 |
| 92 | hydrogen ion transmembrane transport (GO:1902600) | 2.88795862 |
| 93 | * cilium organization (GO:0044782) | 2.87618428 |
| 94 | ribosomal large subunit biogenesis (GO:0042273) | 2.85379351 |
| 95 | regulation of pigment cell differentiation (GO:0050932) | 2.85209404 |
| 96 | regulation of type B pancreatic cell apoptotic process (GO:2000674) | 2.84885126 |
| 97 | * protein localization to cilium (GO:0061512) | 2.84511139 |
| 98 | * intraciliary transport (GO:0042073) | 2.83839487 |
| 99 | purine ribonucleoside triphosphate biosynthetic process (GO:0009206) | 2.83689875 |
| 100 | GMP metabolic process (GO:0046037) | 2.83015719 |
| 101 | nucleotide transmembrane transport (GO:1901679) | 2.82507111 |
| 102 | negative regulation of transcription by competitive promoter binding (GO:0010944) | 2.81579689 |
| 103 | purine nucleoside triphosphate biosynthetic process (GO:0009145) | 2.80976781 |
| 104 | indolalkylamine metabolic process (GO:0006586) | 2.80871700 |
| 105 | intracellular protein transmembrane import (GO:0044743) | 2.80034886 |
| 106 | cellular biogenic amine catabolic process (GO:0042402) | 2.79113195 |
| 107 | amine catabolic process (GO:0009310) | 2.79113195 |
| 108 | quinone biosynthetic process (GO:1901663) | 2.78272516 |
| 109 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184) | 2.77604355 |
| 110 | regulation of hexokinase activity (GO:1903299) | 2.77564885 |
| 111 | regulation of glucokinase activity (GO:0033131) | 2.77564885 |
| 112 | * cilium assembly (GO:0042384) | 2.75813678 |
| 113 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 2.75448219 |
| 114 | fatty acid elongation (GO:0030497) | 2.74328565 |
| 115 | preassembly of GPI anchor in ER membrane (GO:0016254) | 2.72293286 |
| 116 | aldehyde catabolic process (GO:0046185) | 2.70333285 |
| 117 | peptidyl-histidine modification (GO:0018202) | 2.70191166 |
| 118 | neural tube formation (GO:0001841) | 2.70167355 |
| 119 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 2.69712035 |
| 120 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 2.69712035 |
| 121 | proton transport (GO:0015992) | 2.68429073 |
| 122 | regulation of microtubule-based movement (GO:0060632) | 2.68226049 |
| 123 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 2.67672164 |
| 124 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 2.66830792 |
| 125 | protein complex disassembly (GO:0043241) | 2.66371063 |
| 126 | long-chain fatty acid biosynthetic process (GO:0042759) | 2.65627865 |
| 127 | dopamine transport (GO:0015872) | 2.62506309 |
| 128 | response to redox state (GO:0051775) | 2.61197483 |
| 129 | hydrogen transport (GO:0006818) | 2.60536908 |
| 130 | ATP biosynthetic process (GO:0006754) | 2.59789618 |
| 131 | detection of light stimulus involved in sensory perception (GO:0050962) | 2.59249673 |
| 132 | detection of light stimulus involved in visual perception (GO:0050908) | 2.59249673 |
| 133 | kynurenine metabolic process (GO:0070189) | 2.59109636 |
| 134 | piRNA metabolic process (GO:0034587) | 2.57890604 |
| 135 | macromolecular complex disassembly (GO:0032984) | 2.57671674 |
| 136 | negative regulation of transcription regulatory region DNA binding (GO:2000678) | 2.57370607 |
| 137 | fucosylation (GO:0036065) | 2.55624129 |
| 138 | metallo-sulfur cluster assembly (GO:0031163) | 2.54208782 |
| 139 | iron-sulfur cluster assembly (GO:0016226) | 2.54208782 |
| 140 | sperm motility (GO:0030317) | 2.53676375 |
| 141 | regulation of cellular amino acid metabolic process (GO:0006521) | 2.53103351 |
| 142 | neuronal action potential propagation (GO:0019227) | 2.52364813 |
| 143 | protein targeting to mitochondrion (GO:0006626) | 2.51293752 |
| 144 | organelle disassembly (GO:1903008) | 2.48307416 |
| 145 | tryptophan metabolic process (GO:0006568) | 2.47635943 |
| 146 | maturation of SSU-rRNA (GO:0030490) | 2.47274730 |
| 147 | fucose metabolic process (GO:0006004) | 2.47071109 |
| 148 | multicellular organism reproduction (GO:0032504) | 2.47047888 |
| 149 | base-excision repair, AP site formation (GO:0006285) | 2.46341467 |
| 150 | glandular epithelial cell differentiation (GO:0002067) | 2.45310811 |
| 151 | negative regulation of execution phase of apoptosis (GO:1900118) | 2.45056013 |
| 152 | pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209) | 2.44167995 |
| 153 | protein targeting (GO:0006605) | 2.44114838 |
| 154 | nucleoside diphosphate metabolic process (GO:0009132) | 2.43898588 |
| 155 | establishment of protein localization to membrane (GO:0090150) | 2.43002074 |
| 156 | gamma-aminobutyric acid transport (GO:0015812) | 2.42522159 |
| 157 | glucosamine-containing compound catabolic process (GO:1901072) | 2.41897708 |
| 158 | ribonucleoside triphosphate biosynthetic process (GO:0009201) | 2.41135821 |
| 159 | cellular response to interferon-beta (GO:0035458) | 2.39213299 |
| 160 | centriole replication (GO:0007099) | 2.39132436 |
| 161 | rRNA modification (GO:0000154) | 2.38897902 |
| 162 | kidney morphogenesis (GO:0060993) | 2.38245242 |
| 163 | regulation of neurotransmitter uptake (GO:0051580) | 2.37755603 |
| 164 | anterograde synaptic vesicle transport (GO:0048490) | 2.35021811 |
| 165 | indole-containing compound metabolic process (GO:0042430) | 2.34896904 |
| 166 | negative regulation of T cell differentiation in thymus (GO:0033085) | 2.34518085 |
| 167 | nephron tubule morphogenesis (GO:0072078) | 2.33645249 |
| 168 | nephron epithelium morphogenesis (GO:0072088) | 2.33645249 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 5.56250557 |
| 2 | ZNF274_21170338_ChIP-Seq_K562_Hela | 3.86538208 |
| 3 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 3.86182362 |
| 4 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 3.58196387 |
| 5 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 3.54082885 |
| 6 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.25696016 |
| 7 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 3.00922244 |
| 8 | * JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 2.76414008 |
| 9 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.70403948 |
| 10 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.64638315 |
| 11 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 2.49934030 |
| 12 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 2.46213304 |
| 13 | * EST1_17652178_ChIP-ChIP_JURKAT_Human | 2.43820445 |
| 14 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 2.33316298 |
| 15 | EWS_26573619_Chip-Seq_HEK293_Human | 2.15626279 |
| 16 | * ETS1_20019798_ChIP-Seq_JURKAT_Human | 2.13080042 |
| 17 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 2.06145400 |
| 18 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 2.03357619 |
| 19 | VDR_22108803_ChIP-Seq_LS180_Human | 1.93990987 |
| 20 | * HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.90280182 |
| 21 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.89203806 |
| 22 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.86022426 |
| 23 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.79526206 |
| 24 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.77867176 |
| 25 | * EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.77268878 |
| 26 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 1.69268171 |
| 27 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.67820144 |
| 28 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.67133611 |
| 29 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 1.67125808 |
| 30 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.66588050 |
| 31 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.64011004 |
| 32 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.62613757 |
| 33 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.58450480 |
| 34 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.56633891 |
| 35 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.56566834 |
| 36 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.55922982 |
| 37 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.50581975 |
| 38 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.50062631 |
| 39 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.50023231 |
| 40 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.49514493 |
| 41 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.49514493 |
| 42 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.49391248 |
| 43 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.47930392 |
| 44 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.46574587 |
| 45 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.46574083 |
| 46 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 1.44016781 |
| 47 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.42721696 |
| 48 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.42721696 |
| 49 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.39189561 |
| 50 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.38731868 |
| 51 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.38298467 |
| 52 | * VDR_23849224_ChIP-Seq_CD4+_Human | 1.35727101 |
| 53 | AR_25329375_ChIP-Seq_VCAP_Human | 1.35428430 |
| 54 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.35325976 |
| 55 | LYL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.34911925 |
| 56 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.31888790 |
| 57 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.30522112 |
| 58 | PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse | 1.28222765 |
| 59 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.25967825 |
| 60 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.24901475 |
| 61 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.24765806 |
| 62 | NCOR_22424771_ChIP-Seq_293T_Human | 1.22560489 |
| 63 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.21452362 |
| 64 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.21373083 |
| 65 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.21162268 |
| 66 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.20273995 |
| 67 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.19741832 |
| 68 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.18630194 |
| 69 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.18253405 |
| 70 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.17902966 |
| 71 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.17641227 |
| 72 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.17358113 |
| 73 | * NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.16825127 |
| 74 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.16404981 |
| 75 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 1.16347820 |
| 76 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.16207534 |
| 77 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.15673569 |
| 78 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.15450045 |
| 79 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.14944574 |
| 80 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 1.14480241 |
| 81 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.14365827 |
| 82 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.13920766 |
| 83 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.13501984 |
| 84 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.13480696 |
| 85 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.13228351 |
| 86 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.13065027 |
| 87 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.12605687 |
| 88 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.12554697 |
| 89 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.12342788 |
| 90 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.12025967 |
| 91 | * THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.10903271 |
| 92 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.10687996 |
| 93 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.09977303 |
| 94 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.09596735 |
| 95 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.09378873 |
| 96 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.08996226 |
| 97 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.08528451 |
| 98 | STAT3_23295773_ChIP-Seq_U87_Human | 1.08476506 |
| 99 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.07602822 |
| 100 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.07602822 |
| 101 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.07173528 |
| 102 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.06228126 |
| 103 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.06112803 |
| 104 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.05831573 |
| 105 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.05789086 |
| 106 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.05548668 |
| 107 | P300_19829295_ChIP-Seq_ESCs_Human | 1.05460730 |
| 108 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.05003269 |
| 109 | * CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.04525205 |
| 110 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.04350261 |
| 111 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 1.03843698 |
| 112 | * PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.03489699 |
| 113 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.02905066 |
| 114 | TCF4_23295773_ChIP-Seq_U87_Human | 1.02612048 |
| 115 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.02473791 |
| 116 | ERA_21632823_ChIP-Seq_H3396_Human | 1.02052666 |
| 117 | FUS_26573619_Chip-Seq_HEK293_Human | 1.01982447 |
| 118 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 1.01457464 |
| 119 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.01422557 |
| 120 | * MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.01041155 |
| 121 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 0.99715457 |
| 122 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 0.99521693 |
| 123 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 0.99389681 |
| 124 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 0.99134556 |
| 125 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 0.99005220 |
| 126 | AR_20517297_ChIP-Seq_VCAP_Human | 0.98495955 |
| 127 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 0.98485399 |
| 128 | TAF2_19829295_ChIP-Seq_ESCs_Human | 0.98221019 |
| 129 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.97873230 |
| 130 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 0.97867878 |
| 131 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 0.97402472 |
| 132 | P300_18555785_Chip-Seq_ESCs_Mouse | 0.96746296 |
| 133 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 0.96615484 |
| 134 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 0.95519674 |
| 135 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 0.95461659 |
| 136 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 0.95375504 |
| 137 | SMAD1_18555785_Chip-Seq_ESCs_Mouse | 0.95197720 |
| 138 | NANOG_20526341_ChIP-Seq_ESCs_Human | 0.95090158 |
| 139 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 0.93662014 |
| 140 | HTT_18923047_ChIP-ChIP_STHdh_Human | 0.93554492 |
| 141 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 0.92110169 |
| 142 | * FOXP3_21729870_ChIP-Seq_TREG_Human | 0.91922392 |
| 143 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 0.90681182 |
| 144 | ZFX_18555785_Chip-Seq_ESCs_Mouse | 0.90290790 |
| 145 | * SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.90235486 |
| 146 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 0.90225578 |
| 147 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 0.89612527 |
| 148 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 0.89359240 |
| 149 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 0.89106557 |
| 150 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 0.87953713 |
| 151 | STAT1_20625510_ChIP-Seq_HELA_Human | 0.87368585 |
| 152 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 0.86059893 |
| 153 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.86012494 |
| 154 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.86012494 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0009379_abnormal_foot_pigmentation | 5.40463871 |
| 2 | MP0003136_yellow_coat_color | 3.61873384 |
| 3 | MP0003880_abnormal_central_pattern | 3.47215381 |
| 4 | MP0001188_hyperpigmentation | 3.28195636 |
| 5 | MP0005409_darkened_coat_color | 2.98773668 |
| 6 | MP0004381_abnormal_hair_follicle | 2.68206587 |
| 7 | MP0002876_abnormal_thyroid_physiology | 2.65983914 |
| 8 | MP0001986_abnormal_taste_sensitivity | 2.54696818 |
| 9 | MP0005379_endocrine/exocrine_gland_phen | 2.53881983 |
| 10 | MP0010386_abnormal_urinary_bladder | 2.52632847 |
| 11 | MP0008875_abnormal_xenobiotic_pharmacok | 2.47198123 |
| 12 | MP0006292_abnormal_olfactory_placode | 2.45433274 |
| 13 | MP0002638_abnormal_pupillary_reflex | 2.11478985 |
| 14 | MP0008872_abnormal_physiological_respon | 2.02562741 |
| 15 | MP0002163_abnormal_gland_morphology | 2.01633702 |
| 16 | MP0005084_abnormal_gallbladder_morpholo | 2.01215583 |
| 17 | MP0006276_abnormal_autonomic_nervous | 1.99530447 |
| 18 | MP0000372_irregular_coat_pigmentation | 1.89592230 |
| 19 | MP0009046_muscle_twitch | 1.85499182 |
| 20 | MP0005220_abnormal_exocrine_pancreas | 1.84302320 |
| 21 | MP0001529_abnormal_vocalization | 1.84165713 |
| 22 | MP0000681_abnormal_thyroid_gland | 1.79759918 |
| 23 | MP0001905_abnormal_dopamine_level | 1.79020196 |
| 24 | MP0008877_abnormal_DNA_methylation | 1.78004516 |
| 25 | MP0005253_abnormal_eye_physiology | 1.71776687 |
| 26 | MP0004133_heterotaxia | 1.71557946 |
| 27 | MP0002693_abnormal_pancreas_physiology | 1.69791844 |
| 28 | MP0002653_abnormal_ependyma_morphology | 1.69768470 |
| 29 | MP0004043_abnormal_pH_regulation | 1.69646751 |
| 30 | MP0005174_abnormal_tail_pigmentation | 1.65384919 |
| 31 | MP0004885_abnormal_endolymph | 1.61061327 |
| 32 | MP0004147_increased_porphyrin_level | 1.60615789 |
| 33 | MP0003724_increased_susceptibility_to | 1.59924912 |
| 34 | MP0003868_abnormal_feces_composition | 1.57515323 |
| 35 | MP0008995_early_reproductive_senescence | 1.52629933 |
| 36 | MP0000613_abnormal_salivary_gland | 1.48294030 |
| 37 | MP0001664_abnormal_digestion | 1.47703954 |
| 38 | MP0001968_abnormal_touch/_nociception | 1.46420331 |
| 39 | MP0002837_dystrophic_cardiac_calcinosis | 1.46133975 |
| 40 | MP0001944_abnormal_pancreas_morphology | 1.45925266 |
| 41 | MP0008260_abnormal_autophagy | 1.43070149 |
| 42 | MP0002938_white_spotting | 1.42909047 |
| 43 | MP0003183_abnormal_peptide_metabolism | 1.42437297 |
| 44 | MP0004142_abnormal_muscle_tone | 1.40358379 |
| 45 | MP0005075_abnormal_melanosome_morpholog | 1.40185116 |
| 46 | MP0000015_abnormal_ear_pigmentation | 1.40118738 |
| 47 | MP0003195_calcinosis | 1.37526691 |
| 48 | MP0002736_abnormal_nociception_after | 1.35640128 |
| 49 | MP0000427_abnormal_hair_cycle | 1.34236877 |
| 50 | MP0002272_abnormal_nervous_system | 1.34131836 |
| 51 | MP0002277_abnormal_respiratory_mucosa | 1.33485554 |
| 52 | MP0001486_abnormal_startle_reflex | 1.32500329 |
| 53 | MP0003879_abnormal_hair_cell | 1.32293221 |
| 54 | MP0002735_abnormal_chemical_nociception | 1.31295933 |
| 55 | MP0000631_abnormal_neuroendocrine_gland | 1.29606228 |
| 56 | MP0005636_abnormal_mineral_homeostasis | 1.29220034 |
| 57 | MP0002132_abnormal_respiratory_system | 1.25907448 |
| 58 | MP0006072_abnormal_retinal_apoptosis | 1.25679320 |
| 59 | MP0004270_analgesia | 1.24671295 |
| 60 | MP0002572_abnormal_emotion/affect_behav | 1.23006616 |
| 61 | MP0000569_abnormal_digit_pigmentation | 1.21096883 |
| 62 | MP0005646_abnormal_pituitary_gland | 1.19802402 |
| 63 | MP0002282_abnormal_trachea_morphology | 1.19607465 |
| 64 | MP0002928_abnormal_bile_duct | 1.18412504 |
| 65 | MP0008004_abnormal_stomach_pH | 1.17803170 |
| 66 | MP0002734_abnormal_mechanical_nocicepti | 1.16360346 |
| 67 | MP0005551_abnormal_eye_electrophysiolog | 1.14728412 |
| 68 | MP0000566_synostosis | 1.13439899 |
| 69 | MP0003787_abnormal_imprinting | 1.13021222 |
| 70 | MP0005389_reproductive_system_phenotype | 1.11210633 |
| 71 | MP0001666_abnormal_nutrient_absorption | 1.10994227 |
| 72 | MP0005377_hearing/vestibular/ear_phenot | 1.10892121 |
| 73 | MP0003878_abnormal_ear_physiology | 1.10892121 |
| 74 | MP0002095_abnormal_skin_pigmentation | 1.10666530 |
| 75 | MP0005171_absent_coat_pigmentation | 1.10243535 |
| 76 | MP0000678_abnormal_parathyroid_gland | 1.09297293 |
| 77 | MP0006036_abnormal_mitochondrial_physio | 1.08961261 |
| 78 | MP0001324_abnormal_eye_pigmentation | 1.07808444 |
| 79 | MP0002751_abnormal_autonomic_nervous | 1.06991632 |
| 80 | MP0001970_abnormal_pain_threshold | 1.06462619 |
| 81 | MP0003806_abnormal_nucleotide_metabolis | 1.04347682 |
| 82 | MP0003646_muscle_fatigue | 1.03947191 |
| 83 | MP0003252_abnormal_bile_duct | 0.99731640 |
| 84 | MP0002009_preneoplasia | 0.99386991 |
| 85 | MP0003011_delayed_dark_adaptation | 0.98524056 |
| 86 | MP0004782_abnormal_surfactant_physiolog | 0.98277658 |
| 87 | MP0005451_abnormal_body_composition | 0.97483247 |
| 88 | MP0005332_abnormal_amino_acid | 0.95609719 |
| 89 | MP0002177_abnormal_outer_ear | 0.94527534 |
| 90 | MP0003186_abnormal_redox_activity | 0.94513463 |
| 91 | MP0005408_hypopigmentation | 0.94475699 |
| 92 | MP0003122_maternal_imprinting | 0.94273232 |
| 93 | MP0005085_abnormal_gallbladder_physiolo | 0.93438904 |
| 94 | MP0008058_abnormal_DNA_repair | 0.93333075 |
| 95 | MP0004924_abnormal_behavior | 0.93175567 |
| 96 | MP0005386_behavior/neurological_phenoty | 0.93175567 |
| 97 | MP0001765_abnormal_ion_homeostasis | 0.92989764 |
| 98 | MP0001542_abnormal_bone_strength | 0.91329312 |
| 99 | MP0000230_abnormal_systemic_arterial | 0.90824365 |
| 100 | MP0005423_abnormal_somatic_nervous | 0.90413096 |
| 101 | MP0008789_abnormal_olfactory_epithelium | 0.90235543 |
| 102 | MP0003283_abnormal_digestive_organ | 0.90215003 |
| 103 | MP0005195_abnormal_posterior_eye | 0.89345891 |
| 104 | MP0000516_abnormal_urinary_system | 0.88929555 |
| 105 | MP0005367_renal/urinary_system_phenotyp | 0.88929555 |
| 106 | MP0004145_abnormal_muscle_electrophysio | 0.88831184 |
| 107 | MP0000049_abnormal_middle_ear | 0.88806020 |
| 108 | MP0010329_abnormal_lipoprotein_level | 0.88024323 |
| 109 | MP0000026_abnormal_inner_ear | 0.87051038 |
| 110 | MP0008775_abnormal_heart_ventricle | 0.86768048 |
| 111 | MP0000538_abnormal_urinary_bladder | 0.86422284 |
| 112 | MP0002148_abnormal_hypersensitivity_rea | 0.85764908 |
| 113 | MP0002067_abnormal_sensory_capabilities | 0.85737683 |
| 114 | MP0003718_maternal_effect | 0.84301941 |
| 115 | MP0003959_abnormal_lean_body | 0.84301439 |
| 116 | MP0005365_abnormal_bile_salt | 0.83247701 |
| 117 | MP0003698_abnormal_male_reproductive | 0.83177772 |
| 118 | MP0001502_abnormal_circadian_rhythm | 0.82961961 |
| 119 | MP0001756_abnormal_urination | 0.82864799 |
| 120 | MP0000920_abnormal_myelination | 0.81920790 |
| 121 | MP0002229_neurodegeneration | 0.80979207 |
| 122 | MP0002160_abnormal_reproductive_system | 0.80255969 |
| 123 | MP0009745_abnormal_behavioral_response | 0.79286974 |
| 124 | MP0005083_abnormal_biliary_tract | 0.78558677 |
| 125 | MP0002102_abnormal_ear_morphology | 0.78493754 |
| 126 | MP0001963_abnormal_hearing_physiology | 0.76670966 |
| 127 | MP0001501_abnormal_sleep_pattern | 0.76003027 |
| 128 | MP0001485_abnormal_pinna_reflex | 0.75938019 |
| 129 | MP0004742_abnormal_vestibular_system | 0.75766564 |
| 130 | MP0005645_abnormal_hypothalamus_physiol | 0.75292577 |
| 131 | MP0002064_seizures | 0.74994940 |
| 132 | MP0001764_abnormal_homeostasis | 0.74937892 |
| 133 | MP0000013_abnormal_adipose_tissue | 0.74593107 |
| 134 | MP0002139_abnormal_hepatobiliary_system | 0.74476085 |
| 135 | MP0002184_abnormal_innervation | 0.74072778 |
| 136 | MP0005381_digestive/alimentary_phenotyp | 0.73904214 |
| 137 | MP0000462_abnormal_digestive_system | 0.73216552 |
| 138 | MP0005410_abnormal_fertilization | 0.72473244 |
| 139 | MP0009250_abnormal_appendicular_skeleto | 0.72252859 |
| 140 | MP0002733_abnormal_thermal_nociception | 0.72133984 |
| 141 | MP0002557_abnormal_social/conspecific_i | 0.72072200 |
| 142 | MP0001984_abnormal_olfaction | 0.70350118 |
| 143 | MP0003315_abnormal_perineum_morphology | 0.69478199 |
| 144 | MP0001663_abnormal_digestive_system | 0.69127862 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Type I transferrin isoform profile (HP:0003642) | 5.12154268 |
| 2 | Acute necrotizing encephalopathy (HP:0006965) | 4.81549050 |
| 3 | Reduced antithrombin III activity (HP:0001976) | 4.69011792 |
| 4 | Mitochondrial inheritance (HP:0001427) | 4.67780774 |
| 5 | Increased hepatocellular lipid droplets (HP:0006565) | 4.52098023 |
| 6 | Hypothermia (HP:0002045) | 4.46238729 |
| 7 | Renal Fanconi syndrome (HP:0001994) | 4.42720303 |
| 8 | Hepatocellular necrosis (HP:0001404) | 4.34750479 |
| 9 | Abnormality of midbrain morphology (HP:0002418) | 4.28192131 |
| 10 | Molar tooth sign on MRI (HP:0002419) | 4.28192131 |
| 11 | Abnormal mitochondria in muscle tissue (HP:0008316) | 4.26888502 |
| 12 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 4.08741634 |
| 13 | Lipid accumulation in hepatocytes (HP:0006561) | 4.07168677 |
| 14 | Abnormal protein glycosylation (HP:0012346) | 4.00933176 |
| 15 | Abnormal glycosylation (HP:0012345) | 4.00933176 |
| 16 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 4.00933176 |
| 17 | Abnormal protein N-linked glycosylation (HP:0012347) | 4.00933176 |
| 18 | Progressive macrocephaly (HP:0004481) | 3.98887642 |
| 19 | 3-Methylglutaconic aciduria (HP:0003535) | 3.96723493 |
| 20 | Acute encephalopathy (HP:0006846) | 3.95313557 |
| 21 | Nephronophthisis (HP:0000090) | 3.93380362 |
| 22 | Hepatic necrosis (HP:0002605) | 3.89141692 |
| 23 | Increased CSF lactate (HP:0002490) | 3.76706121 |
| 24 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 3.74616470 |
| 25 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 3.60637228 |
| 26 | Congenital stationary night blindness (HP:0007642) | 3.51519492 |
| 27 | Abnormality of cells of the erythroid lineage (HP:0012130) | 3.50300772 |
| 28 | Abnormality of the renal medulla (HP:0100957) | 3.34457979 |
| 29 | Increased intramyocellular lipid droplets (HP:0012240) | 3.33780748 |
| 30 | Abnormal number of erythroid precursors (HP:0012131) | 3.28851617 |
| 31 | Abnormality of renal resorption (HP:0011038) | 3.20269214 |
| 32 | Exertional dyspnea (HP:0002875) | 3.19239207 |
| 33 | Abnormality of the renal cortex (HP:0011035) | 3.02483943 |
| 34 | Optic disc pallor (HP:0000543) | 2.96015482 |
| 35 | Cystic liver disease (HP:0006706) | 2.93056861 |
| 36 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 2.88029477 |
| 37 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 2.88029477 |
| 38 | Chronic hepatic failure (HP:0100626) | 2.83611784 |
| 39 | Increased muscle lipid content (HP:0009058) | 2.77502721 |
| 40 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 2.70344057 |
| 41 | Tubular atrophy (HP:0000092) | 2.69411786 |
| 42 | Congenital ichthyosiform erythroderma (HP:0007431) | 2.66038757 |
| 43 | Exercise intolerance (HP:0003546) | 2.62790066 |
| 44 | Respiratory difficulties (HP:0002880) | 2.61117663 |
| 45 | Thyroid-stimulating hormone excess (HP:0002925) | 2.60270255 |
| 46 | Cerebral edema (HP:0002181) | 2.58499921 |
| 47 | Macrocytic anemia (HP:0001972) | 2.56567742 |
| 48 | Prolonged partial thromboplastin time (HP:0003645) | 2.53436386 |
| 49 | Respiratory failure (HP:0002878) | 2.50314121 |
| 50 | Sclerocornea (HP:0000647) | 2.49815409 |
| 51 | True hermaphroditism (HP:0010459) | 2.48799704 |
| 52 | Aplasia/hypoplasia of the uterus (HP:0008684) | 2.47519566 |
| 53 | Increased serum lactate (HP:0002151) | 2.47073803 |
| 54 | Lactic acidosis (HP:0003128) | 2.46212065 |
| 55 | Hyperphosphaturia (HP:0003109) | 2.42191561 |
| 56 | Abnormal ciliary motility (HP:0012262) | 2.39458270 |
| 57 | Congenital, generalized hypertrichosis (HP:0004540) | 2.35966876 |
| 58 | Abnormal drinking behavior (HP:0030082) | 2.35571024 |
| 59 | Polydipsia (HP:0001959) | 2.35571024 |
| 60 | Abnormality of urine glucose concentration (HP:0011016) | 2.33206604 |
| 61 | Glycosuria (HP:0003076) | 2.33206604 |
| 62 | Concave nail (HP:0001598) | 2.32922772 |
| 63 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.32544183 |
| 64 | Male pseudohermaphroditism (HP:0000037) | 2.31417713 |
| 65 | Abnormality of alanine metabolism (HP:0010916) | 2.31037706 |
| 66 | Hyperalaninemia (HP:0003348) | 2.31037706 |
| 67 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 2.31037706 |
| 68 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 2.27951899 |
| 69 | Pancreatic cysts (HP:0001737) | 2.27058702 |
| 70 | Anencephaly (HP:0002323) | 2.26488830 |
| 71 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.25790275 |
| 72 | Medial flaring of the eyebrow (HP:0010747) | 2.24174409 |
| 73 | Methylmalonic acidemia (HP:0002912) | 2.22559107 |
| 74 | Microvesicular hepatic steatosis (HP:0001414) | 2.20726068 |
| 75 | Genital tract atresia (HP:0001827) | 2.20670289 |
| 76 | Severe visual impairment (HP:0001141) | 2.20641334 |
| 77 | Abolished electroretinogram (ERG) (HP:0000550) | 2.20570013 |
| 78 | Vaginal atresia (HP:0000148) | 2.19892629 |
| 79 | Nonprogressive disorder (HP:0003680) | 2.19419430 |
| 80 | Congenital hepatic fibrosis (HP:0002612) | 2.19349080 |
| 81 | Split foot (HP:0001839) | 2.16363882 |
| 82 | Decreased central vision (HP:0007663) | 2.16086216 |
| 83 | Parakeratosis (HP:0001036) | 2.16007983 |
| 84 | Increased corneal curvature (HP:0100692) | 2.15400381 |
| 85 | Keratoconus (HP:0000563) | 2.15400381 |
| 86 | Renal cortical cysts (HP:0000803) | 2.15121471 |
| 87 | Cortical visual impairment (HP:0100704) | 2.14449567 |
| 88 | Abnormality of secondary sexual hair (HP:0009888) | 2.12453861 |
| 89 | Abnormality of the axillary hair (HP:0100134) | 2.12453861 |
| 90 | Occipital encephalocele (HP:0002085) | 2.12083707 |
| 91 | Reticulocytopenia (HP:0001896) | 2.11668487 |
| 92 | Pancreatic fibrosis (HP:0100732) | 2.11629986 |
| 93 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.11337464 |
| 94 | Abnormality of magnesium homeostasis (HP:0004921) | 2.10690526 |
| 95 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.10121897 |
| 96 | Abnormal biliary tract physiology (HP:0012439) | 2.09538857 |
| 97 | Bile duct proliferation (HP:0001408) | 2.09538857 |
| 98 | Stomach cancer (HP:0012126) | 2.07162310 |
| 99 | Vacuolated lymphocytes (HP:0001922) | 2.04931710 |
| 100 | Abnormal pupillary function (HP:0007686) | 2.02926515 |
| 101 | Cerebellar dysplasia (HP:0007033) | 2.01999485 |
| 102 | Inability to walk (HP:0002540) | 2.01931827 |
| 103 | Hyperventilation (HP:0002883) | 2.01538980 |
| 104 | Pendular nystagmus (HP:0012043) | 2.01235820 |
| 105 | Abnormal urine phosphate concentration (HP:0012599) | 2.00568425 |
| 106 | Postaxial foot polydactyly (HP:0001830) | 2.00547340 |
| 107 | Methylmalonic aciduria (HP:0012120) | 2.00200002 |
| 108 | Abnormal respiratory epithelium morphology (HP:0012253) | 1.98529430 |
| 109 | Abnormal respiratory motile cilium morphology (HP:0005938) | 1.98529430 |
| 110 | Leukodystrophy (HP:0002415) | 1.98215769 |
| 111 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.96207964 |
| 112 | Furrowed tongue (HP:0000221) | 1.94673643 |
| 113 | Pallor (HP:0000980) | 1.94589610 |
| 114 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 1.93833363 |
| 115 | Progressive inability to walk (HP:0002505) | 1.93571483 |
| 116 | Large for gestational age (HP:0001520) | 1.91130603 |
| 117 | Retinal dysplasia (HP:0007973) | 1.90546337 |
| 118 | Polyuria (HP:0000103) | 1.90434065 |
| 119 | Conjugated hyperbilirubinemia (HP:0002908) | 1.89054144 |
| 120 | Hemiparesis (HP:0001269) | 1.88766074 |
| 121 | Patchy hypopigmentation of hair (HP:0011365) | 1.87985956 |
| 122 | Congenital sensorineural hearing impairment (HP:0008527) | 1.87323553 |
| 123 | Sensory axonal neuropathy (HP:0003390) | 1.87255636 |
| 124 | Renal tubular dysfunction (HP:0000124) | 1.85857072 |
| 125 | Poor coordination (HP:0002370) | 1.85233594 |
| 126 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 1.84447684 |
| 127 | Rhinitis (HP:0012384) | 1.83632080 |
| 128 | Flat occiput (HP:0005469) | 1.83499707 |
| 129 | Postaxial hand polydactyly (HP:0001162) | 1.81763288 |
| 130 | Attenuation of retinal blood vessels (HP:0007843) | 1.76576373 |
| 131 | Nephrogenic diabetes insipidus (HP:0009806) | 1.76225229 |
| 132 | Hypoplasia of the uterus (HP:0000013) | 1.75954446 |
| 133 | Lissencephaly (HP:0001339) | 1.75633267 |
| 134 | Congenital primary aphakia (HP:0007707) | 1.75253327 |
| 135 | Progressive cerebellar ataxia (HP:0002073) | 1.74832236 |
| 136 | Limb dystonia (HP:0002451) | 1.72722013 |
| 137 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 1.71192154 |
| 138 | Absent/shortened dynein arms (HP:0200106) | 1.71192154 |
| 139 | Short tibia (HP:0005736) | 1.70933329 |
| 140 | Optic nerve hypoplasia (HP:0000609) | 1.70171060 |
| 141 | Tubulointerstitial abnormality (HP:0001969) | 1.70049769 |
| 142 | Gait imbalance (HP:0002141) | 1.69065923 |
| 143 | Hypomagnesemia (HP:0002917) | 1.66624676 |
| 144 | Aplastic anemia (HP:0001915) | 1.64474253 |
| 145 | Type II lissencephaly (HP:0007260) | 1.62616682 |
| 146 | Lethargy (HP:0001254) | 1.61612974 |
| 147 | Poor suck (HP:0002033) | 1.60008969 |
| 148 | Chronic bronchitis (HP:0004469) | 1.59667694 |
| 149 | X-linked dominant inheritance (HP:0001423) | 1.57820338 |
| 150 | Abnormality of calcium-phosphate metabolism (HP:0100530) | 1.56525889 |
| 151 | Type 2 muscle fiber atrophy (HP:0003554) | 1.54979827 |
| 152 | CNS demyelination (HP:0007305) | 1.54003639 |
| 153 | Emotional lability (HP:0000712) | 1.53341201 |
| 154 | Decreased circulating renin level (HP:0003351) | 1.52913099 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TNIK | 4.76120573 |
| 2 | CASK | 3.75142411 |
| 3 | STK16 | 3.56354602 |
| 4 | NME2 | 3.37472637 |
| 5 | MUSK | 3.27904930 |
| 6 | EIF2AK3 | 3.18613324 |
| 7 | MAP4K2 | 3.11636219 |
| 8 | TLK1 | 2.36441467 |
| 9 | ZAK | 2.33179045 |
| 10 | WNK3 | 2.28984815 |
| 11 | PINK1 | 2.05759433 |
| 12 | NLK | 2.00872835 |
| 13 | MAP3K12 | 1.99088160 |
| 14 | MST4 | 1.95790277 |
| 15 | NME1 | 1.92204210 |
| 16 | VRK2 | 1.91002154 |
| 17 | STK39 | 1.80172317 |
| 18 | MKNK2 | 1.79893699 |
| 19 | CDK19 | 1.77505864 |
| 20 | IRAK3 | 1.77084581 |
| 21 | MAPK15 | 1.75337995 |
| 22 | ACVR1B | 1.66240122 |
| 23 | PNCK | 1.64272523 |
| 24 | BMPR1B | 1.60586919 |
| 25 | VRK1 | 1.56704280 |
| 26 | MAP2K7 | 1.52698143 |
| 27 | BCKDK | 1.44480966 |
| 28 | CAMKK2 | 1.41415469 |
| 29 | PIM2 | 1.39419185 |
| 30 | SRPK1 | 1.37169974 |
| 31 | IRAK4 | 1.35904427 |
| 32 | MAP3K4 | 1.34746387 |
| 33 | TRIM28 | 1.33637390 |
| 34 | IRAK1 | 1.33614599 |
| 35 | INSRR | 1.33388369 |
| 36 | TAOK3 | 1.27725376 |
| 37 | ADRBK2 | 1.25967340 |
| 38 | BRSK2 | 1.24358535 |
| 39 | TEC | 1.20761356 |
| 40 | GRK7 | 1.20745533 |
| 41 | OXSR1 | 1.20469667 |
| 42 | PAK3 | 1.19638632 |
| 43 | MYLK | 1.17937756 |
| 44 | WNK4 | 1.17504002 |
| 45 | BMPR2 | 1.14756319 |
| 46 | MAPKAPK5 | 1.14548037 |
| 47 | PTK2B | 1.12982240 |
| 48 | IRAK2 | 1.11094520 |
| 49 | ARAF | 1.11090256 |
| 50 | BRAF | 1.07295608 |
| 51 | PIK3CG | 1.04654283 |
| 52 | DYRK2 | 1.03283969 |
| 53 | GRK5 | 1.03033517 |
| 54 | TIE1 | 1.02510454 |
| 55 | PRKCG | 1.01007832 |
| 56 | PBK | 0.99447988 |
| 57 | PLK2 | 0.96626320 |
| 58 | CAMK2B | 0.95009019 |
| 59 | DAPK2 | 0.91332246 |
| 60 | ERBB3 | 0.89956200 |
| 61 | MKNK1 | 0.88613042 |
| 62 | TGFBR1 | 0.86635178 |
| 63 | EIF2AK2 | 0.83204309 |
| 64 | FES | 0.81288185 |
| 65 | MARK1 | 0.81056233 |
| 66 | CAMK2D | 0.80969665 |
| 67 | CSNK1G3 | 0.80766207 |
| 68 | PASK | 0.79829775 |
| 69 | EPHA3 | 0.78513394 |
| 70 | HIPK2 | 0.76614246 |
| 71 | YES1 | 0.76174024 |
| 72 | CSNK1G1 | 0.75881096 |
| 73 | MAPK13 | 0.75618420 |
| 74 | MAP2K2 | 0.72289250 |
| 75 | EIF2AK1 | 0.72022029 |
| 76 | NEK6 | 0.71031834 |
| 77 | IKBKB | 0.70241418 |
| 78 | CDK3 | 0.69075589 |
| 79 | BUB1 | 0.67669219 |
| 80 | UHMK1 | 0.66174138 |
| 81 | CAMK1 | 0.64893254 |
| 82 | STK38L | 0.64751477 |
| 83 | PDK2 | 0.63979809 |
| 84 | PIK3CA | 0.63180185 |
| 85 | BLK | 0.62734107 |
| 86 | FRK | 0.60825879 |
| 87 | CDK8 | 0.60045676 |
| 88 | AKT3 | 0.59543014 |
| 89 | BCR | 0.59125305 |
| 90 | KIT | 0.59044291 |
| 91 | RIPK4 | 0.58914191 |
| 92 | MAPKAPK3 | 0.58859754 |
| 93 | CAMK2A | 0.56734706 |
| 94 | GRK1 | 0.55719044 |
| 95 | PLK4 | 0.53551130 |
| 96 | CAMK2G | 0.53514265 |
| 97 | DYRK1A | 0.52505134 |
| 98 | TXK | 0.52183449 |
| 99 | PLK3 | 0.52141728 |
| 100 | DYRK3 | 0.49019862 |
| 101 | PRKCE | 0.47422684 |
| 102 | PRPF4B | 0.47251843 |
| 103 | SYK | 0.46610645 |
| 104 | CSNK1G2 | 0.46216657 |
| 105 | PRKG2 | 0.46134759 |
| 106 | CLK1 | 0.45062170 |
| 107 | NUAK1 | 0.44389668 |
| 108 | WEE1 | 0.44334589 |
| 109 | PRKD2 | 0.44298146 |
| 110 | ADRBK1 | 0.44266536 |
| 111 | PHKG1 | 0.43475275 |
| 112 | PHKG2 | 0.43475275 |
| 113 | RPS6KA5 | 0.42879791 |
| 114 | FLT3 | 0.42468410 |
| 115 | PRKCQ | 0.41748493 |
| 116 | EPHA4 | 0.41655382 |
| 117 | LYN | 0.41285120 |
| 118 | PRKCI | 0.41267028 |
| 119 | MAP3K2 | 0.40882359 |
| 120 | CSNK1A1L | 0.40522273 |
| 121 | PRKACA | 0.40257882 |
| 122 | ABL2 | 0.38289168 |
| 123 | NTRK3 | 0.37600199 |
| 124 | DAPK3 | 0.37152749 |
| 125 | MAP3K3 | 0.37104950 |
| 126 | CSNK2A1 | 0.37067205 |
| 127 | PRKCA | 0.36936927 |
| 128 | LIMK1 | 0.36115926 |
| 129 | MAPK4 | 0.35900036 |
| 130 | CSNK1A1 | 0.35579866 |
| 131 | FER | 0.35543385 |
| 132 | MAP3K11 | 0.35118022 |
| 133 | BTK | 0.34942859 |
| 134 | PKN1 | 0.34797061 |
| 135 | CCNB1 | 0.33137440 |
| 136 | IKBKE | 0.32750679 |
| 137 | MAP2K6 | 0.30353211 |
| 138 | MINK1 | 0.29575721 |
| 139 | ITK | 0.28783068 |
| 140 | FGFR2 | 0.28290980 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Protein export_Homo sapiens_hsa03060 | 5.79675087 |
| 2 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 4.51128568 |
| 3 | Ribosome_Homo sapiens_hsa03010 | 4.31383240 |
| 4 | Parkinsons disease_Homo sapiens_hsa05012 | 3.48647458 |
| 5 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.98751343 |
| 6 | Alzheimers disease_Homo sapiens_hsa05010 | 2.84420377 |
| 7 | Huntingtons disease_Homo sapiens_hsa05016 | 2.52330409 |
| 8 | Proteasome_Homo sapiens_hsa03050 | 2.36128887 |
| 9 | RNA polymerase_Homo sapiens_hsa03020 | 2.20477644 |
| 10 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 2.17924250 |
| 11 | Sulfur metabolism_Homo sapiens_hsa00920 | 2.12181222 |
| 12 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.99490250 |
| 13 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.90404155 |
| 14 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.82350431 |
| 15 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 1.74303963 |
| 16 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.69672964 |
| 17 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.68533176 |
| 18 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.64993300 |
| 19 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.64731321 |
| 20 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 1.62376486 |
| 21 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.61939190 |
| 22 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.57105161 |
| 23 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.49162202 |
| 24 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 1.49035390 |
| 25 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.48696603 |
| 26 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 1.46021387 |
| 27 | Other glycan degradation_Homo sapiens_hsa00511 | 1.38893641 |
| 28 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.38286095 |
| 29 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.37377982 |
| 30 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.35796828 |
| 31 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.33259377 |
| 32 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 1.30906782 |
| 33 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.25994244 |
| 34 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.25770552 |
| 35 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.25044898 |
| 36 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.19399983 |
| 37 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.17867846 |
| 38 | Phototransduction_Homo sapiens_hsa04744 | 1.17745060 |
| 39 | Pancreatic secretion_Homo sapiens_hsa04972 | 1.17471548 |
| 40 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 1.12442828 |
| 41 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.12346680 |
| 42 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.10806239 |
| 43 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.10293499 |
| 44 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 1.07990301 |
| 45 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.06936605 |
| 46 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.05404739 |
| 47 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.03622429 |
| 48 | Basal transcription factors_Homo sapiens_hsa03022 | 1.00887482 |
| 49 | Homologous recombination_Homo sapiens_hsa03440 | 0.98302347 |
| 50 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.97687132 |
| 51 | Purine metabolism_Homo sapiens_hsa00230 | 0.96179650 |
| 52 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.95638941 |
| 53 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.94680651 |
| 54 | Sulfur relay system_Homo sapiens_hsa04122 | 0.93682152 |
| 55 | Metabolic pathways_Homo sapiens_hsa01100 | 0.93065219 |
| 56 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.91864337 |
| 57 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.89417576 |
| 58 | Histidine metabolism_Homo sapiens_hsa00340 | 0.88171170 |
| 59 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.88130398 |
| 60 | Olfactory transduction_Homo sapiens_hsa04740 | 0.85472108 |
| 61 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.85145904 |
| 62 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.73419341 |
| 63 | Taste transduction_Homo sapiens_hsa04742 | 0.73316136 |
| 64 | Nicotine addiction_Homo sapiens_hsa05033 | 0.69369936 |
| 65 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.69369538 |
| 66 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.66341632 |
| 67 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.65914712 |
| 68 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.64287033 |
| 69 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.64196858 |
| 70 | Mineral absorption_Homo sapiens_hsa04978 | 0.64105974 |
| 71 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.63355481 |
| 72 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.62182344 |
| 73 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.60909548 |
| 74 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.55238618 |
| 75 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.54603110 |
| 76 | Insulin secretion_Homo sapiens_hsa04911 | 0.53863723 |
| 77 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.52672394 |
| 78 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.49862735 |
| 79 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.49143345 |
| 80 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.48160199 |
| 81 | ABC transporters_Homo sapiens_hsa02010 | 0.47457393 |
| 82 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.47240428 |
| 83 | Circadian rhythm_Homo sapiens_hsa04710 | 0.46827651 |
| 84 | Cocaine addiction_Homo sapiens_hsa05030 | 0.46611200 |
| 85 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.45861448 |
| 86 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.45252467 |
| 87 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.45165653 |
| 88 | Retinol metabolism_Homo sapiens_hsa00830 | 0.44308550 |
| 89 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.44175480 |
| 90 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.43822243 |
| 91 | Spliceosome_Homo sapiens_hsa03040 | 0.43632057 |
| 92 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.43428611 |
| 93 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.42887372 |
| 94 | Peroxisome_Homo sapiens_hsa04146 | 0.42328040 |
| 95 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.40499907 |
| 96 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.40353109 |
| 97 | Salivary secretion_Homo sapiens_hsa04970 | 0.39523442 |
| 98 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.38559281 |
| 99 | DNA replication_Homo sapiens_hsa03030 | 0.36191336 |
| 100 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.33022657 |
| 101 | Long-term depression_Homo sapiens_hsa04730 | 0.31675557 |
| 102 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.30007859 |
| 103 | Phagosome_Homo sapiens_hsa04145 | 0.29675472 |
| 104 | GABAergic synapse_Homo sapiens_hsa04727 | 0.29361681 |
| 105 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.29273712 |
| 106 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.29002458 |
| 107 | RNA degradation_Homo sapiens_hsa03018 | 0.28309861 |
| 108 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.27918335 |
| 109 | Thyroid cancer_Homo sapiens_hsa05216 | 0.27722147 |
| 110 | Asthma_Homo sapiens_hsa05310 | 0.27171341 |
| 111 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.25553312 |
| 112 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.25474904 |
| 113 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.24810339 |
| 114 | Alcoholism_Homo sapiens_hsa05034 | 0.24340323 |
| 115 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.23972837 |
| 116 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.23568372 |
| 117 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.22304650 |
| 118 | Morphine addiction_Homo sapiens_hsa05032 | 0.21380267 |
| 119 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.21327682 |
| 120 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.19509123 |
| 121 | Circadian entrainment_Homo sapiens_hsa04713 | 0.18795940 |
| 122 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.17358343 |
| 123 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.16532554 |
| 124 | Allograft rejection_Homo sapiens_hsa05330 | 0.16285285 |
| 125 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.14676538 |

