

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ribosomal small subunit biogenesis (GO:0042274) | 5.50450390 |
| 2 | proteasome assembly (GO:0043248) | 5.20269669 |
| 3 | viral transcription (GO:0019083) | 5.14428355 |
| 4 | translational termination (GO:0006415) | 5.03550703 |
| 5 | ribosomal large subunit biogenesis (GO:0042273) | 4.96010936 |
| 6 | termination of RNA polymerase III transcription (GO:0006386) | 4.81268404 |
| 7 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 4.81268404 |
| 8 | cotranslational protein targeting to membrane (GO:0006613) | 4.80511804 |
| 9 | SRP-dependent cotranslational protein targeting to membrane (GO:0006614) | 4.79949388 |
| 10 | GTP biosynthetic process (GO:0006183) | 4.76684131 |
| 11 | protein targeting to ER (GO:0045047) | 4.73879777 |
| 12 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 4.57975089 |
| 13 | protein neddylation (GO:0045116) | 4.51304357 |
| 14 | protein localization to endoplasmic reticulum (GO:0070972) | 4.49858371 |
| 15 | establishment of protein localization to endoplasmic reticulum (GO:0072599) | 4.49280755 |
| 16 | cullin deneddylation (GO:0010388) | 4.40752742 |
| 17 | maturation of SSU-rRNA (GO:0030490) | 4.21534736 |
| 18 | cellular protein complex disassembly (GO:0043624) | 4.13464394 |
| 19 | protein complex biogenesis (GO:0070271) | 4.11661086 |
| 20 | translational elongation (GO:0006414) | 4.10330817 |
| 21 | protein deneddylation (GO:0000338) | 4.03650600 |
| 22 | 7-methylguanosine mRNA capping (GO:0006370) | 4.02386675 |
| 23 | viral life cycle (GO:0019058) | 4.01534413 |
| 24 | 7-methylguanosine RNA capping (GO:0009452) | 3.99974766 |
| 25 | RNA capping (GO:0036260) | 3.99974766 |
| 26 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 3.97756766 |
| 27 | NADH dehydrogenase complex assembly (GO:0010257) | 3.97756766 |
| 28 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 3.97756766 |
| 29 | UTP biosynthetic process (GO:0006228) | 3.91023276 |
| 30 | translation (GO:0006412) | 3.86117486 |
| 31 | chaperone-mediated protein transport (GO:0072321) | 3.84079029 |
| 32 | DNA deamination (GO:0045006) | 3.80988479 |
| 33 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 3.79783791 |
| 34 | oxidative phosphorylation (GO:0006119) | 3.76817602 |
| 35 | ATP synthesis coupled proton transport (GO:0015986) | 3.76331121 |
| 36 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 3.76331121 |
| 37 | translational initiation (GO:0006413) | 3.75060484 |
| 38 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 3.74577101 |
| 39 | respiratory electron transport chain (GO:0022904) | 3.68900389 |
| 40 | guanosine-containing compound biosynthetic process (GO:1901070) | 3.67428800 |
| 41 | ribonucleoprotein complex biogenesis (GO:0022613) | 3.67001970 |
| 42 | water-soluble vitamin biosynthetic process (GO:0042364) | 3.64634619 |
| 43 | mitochondrial respiratory chain complex assembly (GO:0033108) | 3.64197589 |
| 44 | ribosomal small subunit assembly (GO:0000028) | 3.62977807 |
| 45 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 3.62285226 |
| 46 | hydrogen ion transmembrane transport (GO:1902600) | 3.62182127 |
| 47 | protein localization to mitochondrion (GO:0070585) | 3.60397222 |
| 48 | electron transport chain (GO:0022900) | 3.59300209 |
| 49 | protein-cofactor linkage (GO:0018065) | 3.58545535 |
| 50 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184) | 3.58290076 |
| 51 | DNA damage response, detection of DNA damage (GO:0042769) | 3.54637288 |
| 52 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 3.53613018 |
| 53 | cellular component biogenesis (GO:0044085) | 3.51678892 |
| 54 | purine nucleoside triphosphate biosynthetic process (GO:0009145) | 3.51504961 |
| 55 | signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 3.50234522 |
| 56 | signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 3.50234522 |
| 57 | signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 3.50234522 |
| 58 | rRNA modification (GO:0000154) | 3.49525126 |
| 59 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 3.49156251 |
| 60 | signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 3.48214515 |
| 61 | intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 3.48214515 |
| 62 | purine ribonucleoside triphosphate biosynthetic process (GO:0009206) | 3.46786195 |
| 63 | ATP biosynthetic process (GO:0006754) | 3.46496168 |
| 64 | short-term memory (GO:0007614) | 3.45290004 |
| 65 | spliceosomal snRNP assembly (GO:0000387) | 3.44895867 |
| 66 | deoxyribonucleoside diphosphate metabolic process (GO:0009186) | 3.43465941 |
| 67 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 3.41579515 |
| 68 | regulation of mitochondrial translation (GO:0070129) | 3.36350186 |
| 69 | spliceosomal complex assembly (GO:0000245) | 3.36036652 |
| 70 | protein complex disassembly (GO:0043241) | 3.35008573 |
| 71 | signal transduction involved in DNA damage checkpoint (GO:0072422) | 3.34581854 |
| 72 | signal transduction involved in DNA integrity checkpoint (GO:0072401) | 3.34581854 |
| 73 | proton transport (GO:0015992) | 3.31128680 |
| 74 | signal transduction involved in cell cycle checkpoint (GO:0072395) | 3.30533113 |
| 75 | deoxyribonucleotide biosynthetic process (GO:0009263) | 3.29516480 |
| 76 | positive regulation of ligase activity (GO:0051351) | 3.27422430 |
| 77 | CTP metabolic process (GO:0046036) | 3.26464768 |
| 78 | CTP biosynthetic process (GO:0006241) | 3.26464768 |
| 79 | macromolecular complex disassembly (GO:0032984) | 3.24906749 |
| 80 | hydrogen transport (GO:0006818) | 3.24844947 |
| 81 | pseudouridine synthesis (GO:0001522) | 3.22915626 |
| 82 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 3.20203806 |
| 83 | peptidyl-histidine modification (GO:0018202) | 3.15630914 |
| 84 | pyrimidine deoxyribonucleotide catabolic process (GO:0009223) | 3.15031201 |
| 85 | respiratory chain complex IV assembly (GO:0008535) | 3.14932325 |
| 86 | mitochondrial transport (GO:0006839) | 3.13514490 |
| 87 | rRNA processing (GO:0006364) | 3.12850496 |
| 88 | UTP metabolic process (GO:0046051) | 3.12511912 |
| 89 | CENP-A containing nucleosome assembly (GO:0034080) | 3.11761052 |
| 90 | maturation of 5.8S rRNA (GO:0000460) | 3.11456626 |
| 91 | transcription elongation from RNA polymerase I promoter (GO:0006362) | 3.10985474 |
| 92 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.09051329 |
| 93 | protein targeting to membrane (GO:0006612) | 3.07432860 |
| 94 | termination of RNA polymerase I transcription (GO:0006363) | 3.04760570 |
| 95 | protein targeting to mitochondrion (GO:0006626) | 3.03693807 |
| 96 | ribonucleoside triphosphate biosynthetic process (GO:0009201) | 3.03370243 |
| 97 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 3.02802788 |
| 98 | transcription elongation from RNA polymerase II promoter (GO:0006368) | 3.02409510 |
| 99 | rRNA metabolic process (GO:0016072) | 3.01787047 |
| 100 | pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148) | 3.01091566 |
| 101 | transcription-coupled nucleotide-excision repair (GO:0006283) | 3.00098924 |
| 102 | chromatin remodeling at centromere (GO:0031055) | 2.98829129 |
| 103 | cytochrome complex assembly (GO:0017004) | 2.97536693 |
| 104 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 2.97452280 |
| 105 | pyrimidine deoxyribonucleotide metabolic process (GO:0009219) | 2.96309839 |
| 106 | deoxyribonucleoside triphosphate metabolic process (GO:0009200) | 2.95941416 |
| 107 | regulation of ubiquitin-protein transferase activity (GO:0051438) | 2.95824155 |
| 108 | transcription from RNA polymerase I promoter (GO:0006360) | 2.95298244 |
| 109 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO: | 2.93961293 |
| 110 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 2.93815821 |
| 111 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 2.93815821 |
| 112 | regulation of cellular amine metabolic process (GO:0033238) | 2.93024356 |
| 113 | deoxyribonucleoside monophosphate metabolic process (GO:0009162) | 2.92977281 |
| 114 | DNA replication checkpoint (GO:0000076) | 2.92739103 |
| 115 | negative regulation of ligase activity (GO:0051352) | 2.92370696 |
| 116 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 2.92370696 |
| 117 | inner mitochondrial membrane organization (GO:0007007) | 2.91890724 |
| 118 | L-methionine salvage (GO:0071267) | 2.90555033 |
| 119 | L-methionine biosynthetic process (GO:0071265) | 2.90555033 |
| 120 | amino acid salvage (GO:0043102) | 2.90555033 |
| 121 | iron-sulfur cluster assembly (GO:0016226) | 2.89976299 |
| 122 | metallo-sulfur cluster assembly (GO:0031163) | 2.89976299 |
| 123 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 2.89129095 |
| 124 | intracellular protein transmembrane import (GO:0044743) | 2.88979832 |
| 125 | regulation of cellular amino acid metabolic process (GO:0006521) | 2.88819259 |
| 126 | establishment of protein localization to mitochondrion (GO:0072655) | 2.88484878 |
| 127 | regulation of ligase activity (GO:0051340) | 2.85922118 |
| 128 | DNA-templated transcription, elongation (GO:0006354) | 2.85637704 |
| 129 | 2-deoxyribonucleotide biosynthetic process (GO:0009265) | 2.85436372 |
| 130 | deoxyribose phosphate biosynthetic process (GO:0046385) | 2.85436372 |
| 131 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 2.84344834 |
| 132 | nucleoside triphosphate biosynthetic process (GO:0009142) | 2.84189041 |
| 133 | aerobic respiration (GO:0009060) | 2.82855266 |
| 134 | mannosylation (GO:0097502) | 2.81272045 |
| 135 | rRNA methylation (GO:0031167) | 2.80678503 |
| 136 | signal peptide processing (GO:0006465) | 2.79602047 |
| 137 | kinetochore assembly (GO:0051382) | 2.78457960 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 4.84831754 |
| 2 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 4.14180016 |
| 3 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.06566299 |
| 4 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 3.65248887 |
| 5 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 3.58205052 |
| 6 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 3.49607937 |
| 7 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 3.38855919 |
| 8 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 3.23906267 |
| 9 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 3.19292033 |
| 10 | * HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 3.11029600 |
| 11 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 3.04014200 |
| 12 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.82694408 |
| 13 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 2.81873808 |
| 14 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.75092720 |
| 15 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 2.68039991 |
| 16 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.59526146 |
| 17 | VDR_23849224_ChIP-Seq_CD4+_Human | 2.28067341 |
| 18 | ELK1_19687146_ChIP-ChIP_HELA_Human | 2.25592750 |
| 19 | DCP1A_22483619_ChIP-Seq_HELA_Human | 2.20944450 |
| 20 | * MYC_18358816_ChIP-ChIP_MESCs_Mouse | 2.14990226 |
| 21 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 2.08394185 |
| 22 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 2.00950687 |
| 23 | * MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.99918361 |
| 24 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.91570342 |
| 25 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.91412969 |
| 26 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.90373857 |
| 27 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.88012062 |
| 28 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.87614046 |
| 29 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 1.86660565 |
| 30 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.86460527 |
| 31 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.80050326 |
| 32 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.79593543 |
| 33 | VDR_22108803_ChIP-Seq_LS180_Human | 1.79477148 |
| 34 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.74653491 |
| 35 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.73735441 |
| 36 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.73707479 |
| 37 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.72531839 |
| 38 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.68828786 |
| 39 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.67886353 |
| 40 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.67537329 |
| 41 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.65869502 |
| 42 | * FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.60474199 |
| 43 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 1.59942962 |
| 44 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.55196014 |
| 45 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.54133247 |
| 46 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.51238175 |
| 47 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.48525710 |
| 48 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.43819712 |
| 49 | * EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.43508529 |
| 50 | E2F7_22180533_ChIP-Seq_HELA_Human | 1.43286511 |
| 51 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.42064916 |
| 52 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.40612770 |
| 53 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.40169384 |
| 54 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.34500605 |
| 55 | * GABP_19822575_ChIP-Seq_HepG2_Human | 1.33289511 |
| 56 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 1.31929129 |
| 57 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.31381796 |
| 58 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.31053284 |
| 59 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.30614859 |
| 60 | FUS_26573619_Chip-Seq_HEK293_Human | 1.29105796 |
| 61 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.27463709 |
| 62 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.27153501 |
| 63 | ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 1.26221380 |
| 64 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.25563877 |
| 65 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.24507767 |
| 66 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.22188620 |
| 67 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 1.21149376 |
| 68 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.20876657 |
| 69 | * PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.20449465 |
| 70 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 1.18942019 |
| 71 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 1.18942019 |
| 72 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 1.18942019 |
| 73 | HTT_18923047_ChIP-ChIP_STHdh_Human | 1.16392144 |
| 74 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.12723494 |
| 75 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.12626157 |
| 76 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.11606438 |
| 77 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.09209077 |
| 78 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 1.08503774 |
| 79 | EWS_26573619_Chip-Seq_HEK293_Human | 1.08056633 |
| 80 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.07669618 |
| 81 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.06510452 |
| 82 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 1.06133785 |
| 83 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.03449068 |
| 84 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 1.02058913 |
| 85 | * CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human | 1.02058441 |
| 86 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.01847776 |
| 87 | KDM5A_27292631_Chip-Seq_BREAST_Human | 0.99558358 |
| 88 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 0.99442371 |
| 89 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 0.98719069 |
| 90 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 0.97802020 |
| 91 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 0.95532682 |
| 92 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 0.94455575 |
| 93 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 0.92964259 |
| 94 | PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse | 0.91874845 |
| 95 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 0.91397385 |
| 96 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 0.91208976 |
| 97 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 0.89879812 |
| 98 | IGF1R_20145208_ChIP-Seq_DFB_Human | 0.89447249 |
| 99 | IRF1_19129219_ChIP-ChIP_H3396_Human | 0.89382371 |
| 100 | * FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 0.89037398 |
| 101 | RNF2_27304074_Chip-Seq_NSC_Mouse | 0.88259822 |
| 102 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 0.88080650 |
| 103 | * MYCN_18555785_ChIP-Seq_MESCs_Mouse | 0.87162108 |
| 104 | P53_22387025_ChIP-Seq_ESCs_Mouse | 0.86684979 |
| 105 | P300_19829295_ChIP-Seq_ESCs_Human | 0.86577707 |
| 106 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 0.85031749 |
| 107 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 0.85031749 |
| 108 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 0.85031683 |
| 109 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 0.84845494 |
| 110 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 0.84261432 |
| 111 | P300_18555785_Chip-Seq_ESCs_Mouse | 0.83849497 |
| 112 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 0.83152472 |
| 113 | AR_20517297_ChIP-Seq_VCAP_Human | 0.83103727 |
| 114 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 0.82897368 |
| 115 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 0.82420932 |
| 116 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 0.82138169 |
| 117 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 0.81975774 |
| 118 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 0.81881002 |
| 119 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.81787670 |
| 120 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.81787670 |
| 121 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 0.81386256 |
| 122 | FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.80078842 |
| 123 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 0.79479218 |
| 124 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 0.78679786 |
| 125 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 0.78516711 |
| 126 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 0.77557708 |
| 127 | * SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 0.77349210 |
| 128 | * SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.76780210 |
| 129 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 0.76720151 |
| 130 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 0.76717562 |
| 131 | JUN_21703547_ChIP-Seq_K562_Human | 0.76242368 |
| 132 | * ELF5_23300383_ChIP-Seq_T47D_Human | 0.75896141 |
| 133 | NCOR_22424771_ChIP-Seq_293T_Human | 0.75779651 |
| 134 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 0.75755001 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0009379_abnormal_foot_pigmentation | 6.88953051 |
| 2 | MP0001986_abnormal_taste_sensitivity | 4.09520345 |
| 3 | MP0001188_hyperpigmentation | 3.75321993 |
| 4 | MP0003136_yellow_coat_color | 3.66420613 |
| 5 | MP0006036_abnormal_mitochondrial_physio | 3.09001267 |
| 6 | MP0003806_abnormal_nucleotide_metabolis | 3.07596801 |
| 7 | MP0006292_abnormal_olfactory_placode | 3.07219823 |
| 8 | MP0003880_abnormal_central_pattern | 2.63767845 |
| 9 | MP0003011_delayed_dark_adaptation | 2.36705242 |
| 10 | MP0002837_dystrophic_cardiac_calcinosis | 2.36470412 |
| 11 | MP0003941_abnormal_skin_development | 2.30660416 |
| 12 | MP0003693_abnormal_embryo_hatching | 2.17716754 |
| 13 | MP0003787_abnormal_imprinting | 2.15904788 |
| 14 | MP0008932_abnormal_embryonic_tissue | 2.14399590 |
| 15 | MP0006276_abnormal_autonomic_nervous | 2.13879923 |
| 16 | MP0005423_abnormal_somatic_nervous | 2.13695046 |
| 17 | MP0008875_abnormal_xenobiotic_pharmacok | 2.09518349 |
| 18 | MP0003724_increased_susceptibility_to | 2.07325464 |
| 19 | MP0000566_synostosis | 2.02075320 |
| 20 | MP0005409_darkened_coat_color | 2.01814240 |
| 21 | MP0000372_irregular_coat_pigmentation | 1.98400466 |
| 22 | MP0006035_abnormal_mitochondrial_morpho | 1.94528062 |
| 23 | MP0002277_abnormal_respiratory_mucosa | 1.88909907 |
| 24 | MP0004147_increased_porphyrin_level | 1.84706996 |
| 25 | MP0002163_abnormal_gland_morphology | 1.78019659 |
| 26 | MP0001529_abnormal_vocalization | 1.77546202 |
| 27 | MP0001968_abnormal_touch/_nociception | 1.74238880 |
| 28 | MP0008058_abnormal_DNA_repair | 1.65031915 |
| 29 | MP0002638_abnormal_pupillary_reflex | 1.63513991 |
| 30 | MP0004142_abnormal_muscle_tone | 1.63135189 |
| 31 | MP0008872_abnormal_physiological_respon | 1.62235964 |
| 32 | MP0004957_abnormal_blastocyst_morpholog | 1.61095851 |
| 33 | MP0001764_abnormal_homeostasis | 1.59585027 |
| 34 | MP0001905_abnormal_dopamine_level | 1.57312703 |
| 35 | MP0002736_abnormal_nociception_after | 1.55159616 |
| 36 | MP0008789_abnormal_olfactory_epithelium | 1.54204507 |
| 37 | MP0003786_premature_aging | 1.52271018 |
| 38 | MP0002160_abnormal_reproductive_system | 1.51538811 |
| 39 | MP0003718_maternal_effect | 1.50861724 |
| 40 | MP0008877_abnormal_DNA_methylation | 1.45824830 |
| 41 | MP0002751_abnormal_autonomic_nervous | 1.40806626 |
| 42 | MP0005171_absent_coat_pigmentation | 1.39951017 |
| 43 | MP0005379_endocrine/exocrine_gland_phen | 1.35822525 |
| 44 | MP0009250_abnormal_appendicular_skeleto | 1.35816994 |
| 45 | MP0000049_abnormal_middle_ear | 1.35011500 |
| 46 | MP0001542_abnormal_bone_strength | 1.33942785 |
| 47 | MP0002132_abnormal_respiratory_system | 1.32404043 |
| 48 | MP0002734_abnormal_mechanical_nocicepti | 1.30197135 |
| 49 | MP0004381_abnormal_hair_follicle | 1.28804013 |
| 50 | MP0006072_abnormal_retinal_apoptosis | 1.28795182 |
| 51 | MP0003195_calcinosis | 1.28666481 |
| 52 | MP0000015_abnormal_ear_pigmentation | 1.26429518 |
| 53 | MP0003938_abnormal_ear_development | 1.24999231 |
| 54 | MP0002102_abnormal_ear_morphology | 1.22674082 |
| 55 | MP0002653_abnormal_ependyma_morphology | 1.22621223 |
| 56 | MP0002177_abnormal_outer_ear | 1.22199454 |
| 57 | MP0001919_abnormal_reproductive_system | 1.21903197 |
| 58 | MP0003121_genomic_imprinting | 1.20849425 |
| 59 | MP0008007_abnormal_cellular_replicative | 1.19886763 |
| 60 | MP0002735_abnormal_chemical_nociception | 1.19447291 |
| 61 | MP0005075_abnormal_melanosome_morpholog | 1.19303618 |
| 62 | MP0004215_abnormal_myocardial_fiber | 1.18986550 |
| 63 | MP0008057_abnormal_DNA_replication | 1.18658840 |
| 64 | MP0005636_abnormal_mineral_homeostasis | 1.18268904 |
| 65 | MP0003646_muscle_fatigue | 1.16340340 |
| 66 | MP0005389_reproductive_system_phenotype | 1.15795294 |
| 67 | MP0010386_abnormal_urinary_bladder | 1.15322749 |
| 68 | MP0005394_taste/olfaction_phenotype | 1.15288068 |
| 69 | MP0005499_abnormal_olfactory_system | 1.15288068 |
| 70 | MP0005332_abnormal_amino_acid | 1.14947105 |
| 71 | MP0005671_abnormal_response_to | 1.12779993 |
| 72 | MP0008260_abnormal_autophagy | 1.11773613 |
| 73 | MP0009697_abnormal_copulation | 1.11689660 |
| 74 | MP0005410_abnormal_fertilization | 1.11062118 |
| 75 | MP0003315_abnormal_perineum_morphology | 1.10408281 |
| 76 | MP0002938_white_spotting | 1.09625602 |
| 77 | MP0000631_abnormal_neuroendocrine_gland | 1.09083538 |
| 78 | MP0008995_early_reproductive_senescence | 1.08066545 |
| 79 | MP0004742_abnormal_vestibular_system | 1.07886197 |
| 80 | MP0000681_abnormal_thyroid_gland | 1.05624101 |
| 81 | MP0005084_abnormal_gallbladder_morpholo | 1.04681957 |
| 82 | MP0002909_abnormal_adrenal_gland | 1.01158121 |
| 83 | MP0000358_abnormal_cell_content/ | 0.99961369 |
| 84 | MP0002876_abnormal_thyroid_physiology | 0.99768461 |
| 85 | MP0002095_abnormal_skin_pigmentation | 0.99565740 |
| 86 | MP0008004_abnormal_stomach_pH | 0.98778522 |
| 87 | MP0005646_abnormal_pituitary_gland | 0.97451670 |
| 88 | MP0002090_abnormal_vision | 0.97294953 |
| 89 | MP0001984_abnormal_olfaction | 0.95405066 |
| 90 | MP0002210_abnormal_sex_determination | 0.95232321 |
| 91 | MP0010094_abnormal_chromosome_stability | 0.94679725 |
| 92 | MP0005645_abnormal_hypothalamus_physiol | 0.93436223 |
| 93 | MP0001853_heart_inflammation | 0.92507446 |
| 94 | MP0002272_abnormal_nervous_system | 0.92482532 |
| 95 | MP0004145_abnormal_muscle_electrophysio | 0.92320745 |
| 96 | MP0003111_abnormal_nucleus_morphology | 0.91785261 |
| 97 | MP0001970_abnormal_pain_threshold | 0.91697603 |
| 98 | MP0000678_abnormal_parathyroid_gland | 0.91088844 |
| 99 | MP0005408_hypopigmentation | 0.89746182 |
| 100 | MP0001485_abnormal_pinna_reflex | 0.88923599 |
| 101 | MP0010030_abnormal_orbit_morphology | 0.87476004 |
| 102 | MP0000762_abnormal_tongue_morphology | 0.86964417 |
| 103 | MP0000026_abnormal_inner_ear | 0.85209476 |
| 104 | MP0002693_abnormal_pancreas_physiology | 0.85112424 |
| 105 | MP0003755_abnormal_palate_morphology | 0.84923031 |
| 106 | MP0003077_abnormal_cell_cycle | 0.82988104 |
| 107 | MP0004133_heterotaxia | 0.82454092 |
| 108 | MP0009745_abnormal_behavioral_response | 0.82348634 |
| 109 | MP0003137_abnormal_impulse_conducting | 0.82231222 |
| 110 | MP0000613_abnormal_salivary_gland | 0.81880251 |
| 111 | MP0002229_neurodegeneration | 0.81671449 |
| 112 | MP0002064_seizures | 0.80906176 |
| 113 | MP0001502_abnormal_circadian_rhythm | 0.80867104 |
| 114 | MP0001346_abnormal_lacrimal_gland | 0.80525931 |
| 115 | MP0003123_paternal_imprinting | 0.79501247 |
| 116 | MP0005551_abnormal_eye_electrophysiolog | 0.76690228 |
| 117 | MP0000778_abnormal_nervous_system | 0.76420043 |
| 118 | MP0005257_abnormal_intraocular_pressure | 0.76283558 |
| 119 | MP0009780_abnormal_chondrocyte_physiolo | 0.76158835 |
| 120 | MP0002067_abnormal_sensory_capabilities | 0.75206403 |
| 121 | MP0001727_abnormal_embryo_implantation | 0.74589890 |
| 122 | MP0001501_abnormal_sleep_pattern | 0.74024695 |
| 123 | MP0003186_abnormal_redox_activity | 0.73835194 |
| 124 | MP0008873_increased_physiological_sensi | 0.73325706 |
| 125 | MP0002148_abnormal_hypersensitivity_rea | 0.72701347 |
| 126 | MP0002752_abnormal_somatic_nervous | 0.72565090 |
| 127 | MP0005253_abnormal_eye_physiology | 0.71915382 |
| 128 | MP0003937_abnormal_limbs/digits/tail_de | 0.71375263 |
| 129 | MP0004019_abnormal_vitamin_homeostasis | 0.70908727 |
| 130 | MP0004043_abnormal_pH_regulation | 0.70620386 |
| 131 | MP0001486_abnormal_startle_reflex | 0.70143636 |
| 132 | MP0001881_abnormal_mammary_gland | 0.69836705 |
| 133 | MP0002572_abnormal_emotion/affect_behav | 0.69380406 |
| 134 | MP0002822_catalepsy | 0.69031801 |
| 135 | MP0003828_pulmonary_edema | 0.68251780 |
| 136 | MP0001145_abnormal_male_reproductive | 0.65660102 |
| 137 | MP0009046_muscle_twitch | 0.65653890 |
| 138 | MP0004270_analgesia | 0.65547252 |
| 139 | MP0000653_abnormal_sex_gland | 0.65414630 |
| 140 | MP0002557_abnormal_social/conspecific_i | 0.64107321 |
| 141 | MP0001963_abnormal_hearing_physiology | 0.63958077 |
| 142 | MP0001929_abnormal_gametogenesis | 0.63434702 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Acute necrotizing encephalopathy (HP:0006965) | 4.96327702 |
| 2 | Mitochondrial inheritance (HP:0001427) | 4.44792465 |
| 3 | Abnormal mitochondria in muscle tissue (HP:0008316) | 4.37856166 |
| 4 | Progressive macrocephaly (HP:0004481) | 4.15556083 |
| 5 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 4.00332736 |
| 6 | Hepatocellular necrosis (HP:0001404) | 3.98802051 |
| 7 | Acute encephalopathy (HP:0006846) | 3.79622031 |
| 8 | Increased CSF lactate (HP:0002490) | 3.75545297 |
| 9 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 3.75541384 |
| 10 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 3.35632929 |
| 11 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 3.35632929 |
| 12 | Macrocytic anemia (HP:0001972) | 3.33092544 |
| 13 | Increased hepatocellular lipid droplets (HP:0006565) | 3.31215610 |
| 14 | Hepatic necrosis (HP:0002605) | 3.20398219 |
| 15 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 3.17910838 |
| 16 | Reticulocytopenia (HP:0001896) | 3.11552890 |
| 17 | Renal Fanconi syndrome (HP:0001994) | 3.10768201 |
| 18 | Abnormality of cells of the erythroid lineage (HP:0012130) | 3.10342197 |
| 19 | Progressive external ophthalmoplegia (HP:0000590) | 3.06769984 |
| 20 | Abnormal hemoglobin (HP:0011902) | 3.04563742 |
| 21 | Breast hypoplasia (HP:0003187) | 3.02931024 |
| 22 | Optic disc pallor (HP:0000543) | 3.02475828 |
| 23 | 3-Methylglutaconic aciduria (HP:0003535) | 2.94718419 |
| 24 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 2.91412894 |
| 25 | Abnormal number of erythroid precursors (HP:0012131) | 2.90450077 |
| 26 | Exercise intolerance (HP:0003546) | 2.89548919 |
| 27 | Concave nail (HP:0001598) | 2.87913152 |
| 28 | Hypothermia (HP:0002045) | 2.82392995 |
| 29 | Respiratory failure (HP:0002878) | 2.79650977 |
| 30 | Increased serum lactate (HP:0002151) | 2.72322644 |
| 31 | Microvesicular hepatic steatosis (HP:0001414) | 2.66831732 |
| 32 | Lipid accumulation in hepatocytes (HP:0006561) | 2.66791347 |
| 33 | Methylmalonic acidemia (HP:0002912) | 2.65667985 |
| 34 | Medial flaring of the eyebrow (HP:0010747) | 2.63288321 |
| 35 | Lethargy (HP:0001254) | 2.60837816 |
| 36 | Aplastic anemia (HP:0001915) | 2.59591686 |
| 37 | Abnormality of the renal collecting system (HP:0004742) | 2.57051462 |
| 38 | Exertional dyspnea (HP:0002875) | 2.54925568 |
| 39 | Pallor (HP:0000980) | 2.52806613 |
| 40 | Methylmalonic aciduria (HP:0012120) | 2.44930282 |
| 41 | Increased intramyocellular lipid droplets (HP:0012240) | 2.43047757 |
| 42 | Pancreatic fibrosis (HP:0100732) | 2.42536280 |
| 43 | True hermaphroditism (HP:0010459) | 2.41084136 |
| 44 | Molar tooth sign on MRI (HP:0002419) | 2.41038501 |
| 45 | Abnormality of midbrain morphology (HP:0002418) | 2.41038501 |
| 46 | Abnormal pupillary function (HP:0007686) | 2.39734291 |
| 47 | Congenital sensorineural hearing impairment (HP:0008527) | 2.39192562 |
| 48 | Abnormal hair whorl (HP:0010721) | 2.39068977 |
| 49 | Aplasia/hypoplasia of the uterus (HP:0008684) | 2.36100142 |
| 50 | Type I transferrin isoform profile (HP:0003642) | 2.35325696 |
| 51 | Parakeratosis (HP:0001036) | 2.35287837 |
| 52 | Duplicated collecting system (HP:0000081) | 2.35167176 |
| 53 | Birth length less than 3rd percentile (HP:0003561) | 2.34011041 |
| 54 | Abnormality of urine glucose concentration (HP:0011016) | 2.30677466 |
| 55 | Glycosuria (HP:0003076) | 2.30677466 |
| 56 | Congenital primary aphakia (HP:0007707) | 2.29588957 |
| 57 | Pancreatic cysts (HP:0001737) | 2.29334564 |
| 58 | Abnormality of the anterior horn cell (HP:0006802) | 2.27593666 |
| 59 | Degeneration of anterior horn cells (HP:0002398) | 2.27593666 |
| 60 | Abnormality of alanine metabolism (HP:0010916) | 2.26647037 |
| 61 | Hyperalaninemia (HP:0003348) | 2.26647037 |
| 62 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 2.26647037 |
| 63 | Lactic acidosis (HP:0003128) | 2.25273235 |
| 64 | Gait imbalance (HP:0002141) | 2.24343512 |
| 65 | Generalized aminoaciduria (HP:0002909) | 2.22860550 |
| 66 | Dicarboxylic aciduria (HP:0003215) | 2.22829112 |
| 67 | Abnormality of dicarboxylic acid metabolism (HP:0010995) | 2.22829112 |
| 68 | Abnormality of renal resorption (HP:0011038) | 2.21901560 |
| 69 | Congenital, generalized hypertrichosis (HP:0004540) | 2.21112557 |
| 70 | Hyperglycinemia (HP:0002154) | 2.21090684 |
| 71 | Cerebral edema (HP:0002181) | 2.18795248 |
| 72 | CNS demyelination (HP:0007305) | 2.17256773 |
| 73 | Triphalangeal thumb (HP:0001199) | 2.15918524 |
| 74 | Nephrogenic diabetes insipidus (HP:0009806) | 2.12617508 |
| 75 | Cerebral hypomyelination (HP:0006808) | 2.06218304 |
| 76 | Abnormality of dental color (HP:0011073) | 2.03623836 |
| 77 | Hypoglycemic coma (HP:0001325) | 2.03482782 |
| 78 | Testicular atrophy (HP:0000029) | 2.03087630 |
| 79 | Rough bone trabeculation (HP:0100670) | 2.01408765 |
| 80 | Leukodystrophy (HP:0002415) | 2.00767601 |
| 81 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.00656001 |
| 82 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.00656001 |
| 83 | Pancytopenia (HP:0001876) | 1.98364041 |
| 84 | X-linked dominant inheritance (HP:0001423) | 1.97946119 |
| 85 | Adrenal hypoplasia (HP:0000835) | 1.97773950 |
| 86 | Abnormal glycosylation (HP:0012345) | 1.95793066 |
| 87 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 1.95793066 |
| 88 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.95793066 |
| 89 | Abnormal protein glycosylation (HP:0012346) | 1.95793066 |
| 90 | Conical tooth (HP:0000698) | 1.94934311 |
| 91 | Emotional lability (HP:0000712) | 1.94791260 |
| 92 | Myokymia (HP:0002411) | 1.94023079 |
| 93 | Nasolacrimal duct obstruction (HP:0000579) | 1.93196556 |
| 94 | Abnormality of glycolysis (HP:0004366) | 1.92433076 |
| 95 | Increased serum pyruvate (HP:0003542) | 1.92433076 |
| 96 | Supernumerary spleens (HP:0009799) | 1.91773293 |
| 97 | Broad-based gait (HP:0002136) | 1.91514480 |
| 98 | Palpitations (HP:0001962) | 1.89450536 |
| 99 | Respiratory difficulties (HP:0002880) | 1.89368731 |
| 100 | Abnormal ciliary motility (HP:0012262) | 1.89251312 |
| 101 | Abolished electroretinogram (ERG) (HP:0000550) | 1.88879405 |
| 102 | Progressive microcephaly (HP:0000253) | 1.87935421 |
| 103 | Renal cortical cysts (HP:0000803) | 1.85964296 |
| 104 | Submucous cleft hard palate (HP:0000176) | 1.82901154 |
| 105 | Nephronophthisis (HP:0000090) | 1.81727346 |
| 106 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 1.80165632 |
| 107 | Secondary amenorrhea (HP:0000869) | 1.80150636 |
| 108 | Abnormality of serum amino acid levels (HP:0003112) | 1.79278934 |
| 109 | Hyperglycinuria (HP:0003108) | 1.78635491 |
| 110 | Abnormality of placental membranes (HP:0011409) | 1.78529579 |
| 111 | Amniotic constriction ring (HP:0009775) | 1.78529579 |
| 112 | Multiple enchondromatosis (HP:0005701) | 1.76931897 |
| 113 | Abnormal rod and cone electroretinograms (HP:0008323) | 1.75788706 |
| 114 | Sensory axonal neuropathy (HP:0003390) | 1.75514636 |
| 115 | Abnormality of the labia minora (HP:0012880) | 1.75383168 |
| 116 | Septo-optic dysplasia (HP:0100842) | 1.74940921 |
| 117 | IgG deficiency (HP:0004315) | 1.74777345 |
| 118 | Sleep apnea (HP:0010535) | 1.74534471 |
| 119 | Abnormal respiratory motile cilium physiology (HP:0012261) | 1.74345061 |
| 120 | Vaginal atresia (HP:0000148) | 1.74087933 |
| 121 | Genital tract atresia (HP:0001827) | 1.72672727 |
| 122 | Horseshoe kidney (HP:0000085) | 1.72091594 |
| 123 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.72072220 |
| 124 | Atrophy/Degeneration involving motor neurons (HP:0007373) | 1.71825152 |
| 125 | Anencephaly (HP:0002323) | 1.71761228 |
| 126 | Increased muscle lipid content (HP:0009058) | 1.71361843 |
| 127 | Poor suck (HP:0002033) | 1.70756028 |
| 128 | Abnormality of glycine metabolism (HP:0010895) | 1.70523923 |
| 129 | Abnormality of serine family amino acid metabolism (HP:0010894) | 1.70523923 |
| 130 | Congenital ichthyosiform erythroderma (HP:0007431) | 1.69799848 |
| 131 | Depressed nasal ridge (HP:0000457) | 1.67391852 |
| 132 | Sclerocornea (HP:0000647) | 1.67253853 |
| 133 | CNS hypomyelination (HP:0003429) | 1.67162910 |
| 134 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 1.67125742 |
| 135 | Attenuation of retinal blood vessels (HP:0007843) | 1.66950051 |
| 136 | Opisthotonus (HP:0002179) | 1.66368924 |
| 137 | Cleft eyelid (HP:0000625) | 1.66122685 |
| 138 | Hyperphosphaturia (HP:0003109) | 1.65225526 |
| 139 | Metabolic acidosis (HP:0001942) | 1.64806214 |
| 140 | Optic nerve hypoplasia (HP:0000609) | 1.64804735 |
| 141 | Aganglionic megacolon (HP:0002251) | 1.64225575 |
| 142 | Abnormality of the preputium (HP:0100587) | 1.64145572 |
| 143 | Preaxial hand polydactyly (HP:0001177) | 1.63831651 |
| 144 | Congenital stationary night blindness (HP:0007642) | 1.63508152 |
| 145 | Hyperinsulinemic hypoglycemia (HP:0000825) | 1.63409020 |
| 146 | Limb dystonia (HP:0002451) | 1.63308393 |
| 147 | Abnormality of the axillary hair (HP:0100134) | 1.61042678 |
| 148 | Abnormality of secondary sexual hair (HP:0009888) | 1.61042678 |
| 149 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.60562135 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | CASK | 4.14664368 |
| 2 | VRK2 | 3.63718500 |
| 3 | TLK1 | 3.57710423 |
| 4 | EIF2AK1 | 3.50671052 |
| 5 | STK16 | 2.98606318 |
| 6 | BUB1 | 2.88903578 |
| 7 | MKNK2 | 2.59061210 |
| 8 | NME2 | 2.57733105 |
| 9 | IRAK3 | 2.41862020 |
| 10 | BCKDK | 2.26300010 |
| 11 | SRPK1 | 2.21478791 |
| 12 | MAP4K2 | 2.14622549 |
| 13 | EIF2AK3 | 2.07573014 |
| 14 | MKNK1 | 1.94492559 |
| 15 | TESK2 | 1.90135276 |
| 16 | NME1 | 1.86732491 |
| 17 | MST4 | 1.81981746 |
| 18 | VRK1 | 1.80894326 |
| 19 | PBK | 1.79603904 |
| 20 | NEK1 | 1.68276247 |
| 21 | WEE1 | 1.65812875 |
| 22 | MAP3K12 | 1.64155208 |
| 23 | PIM2 | 1.61935093 |
| 24 | BMPR1B | 1.60629201 |
| 25 | TRIM28 | 1.59411236 |
| 26 | MAP2K7 | 1.58045584 |
| 27 | TNIK | 1.50072592 |
| 28 | IRAK4 | 1.49088541 |
| 29 | CDK19 | 1.46652490 |
| 30 | IRAK2 | 1.43079982 |
| 31 | FES | 1.41020346 |
| 32 | PLK4 | 1.39336672 |
| 33 | CDK8 | 1.36902728 |
| 34 | IRAK1 | 1.35024109 |
| 35 | WNK3 | 1.33643938 |
| 36 | PDK2 | 1.26063354 |
| 37 | BRAF | 1.25052089 |
| 38 | AKT3 | 1.24600824 |
| 39 | ZAK | 1.19419008 |
| 40 | KDR | 1.18616662 |
| 41 | ERBB3 | 1.18478602 |
| 42 | LIMK1 | 1.16993472 |
| 43 | EIF2AK2 | 1.12265403 |
| 44 | CSNK1G2 | 1.10467815 |
| 45 | PHKG1 | 1.05271826 |
| 46 | PHKG2 | 1.05271826 |
| 47 | CSNK1G1 | 1.03957896 |
| 48 | SCYL2 | 1.03638485 |
| 49 | DAPK1 | 1.00595713 |
| 50 | DYRK2 | 1.00060071 |
| 51 | AURKA | 0.98446076 |
| 52 | STK39 | 0.98299447 |
| 53 | PRPF4B | 0.95921290 |
| 54 | NEK9 | 0.92732539 |
| 55 | ARAF | 0.92386408 |
| 56 | FRK | 0.91160348 |
| 57 | BMPR2 | 0.90617843 |
| 58 | MAPKAPK5 | 0.90183630 |
| 59 | BCR | 0.86856826 |
| 60 | CSNK1A1L | 0.86586001 |
| 61 | PINK1 | 0.85619954 |
| 62 | TSSK6 | 0.84856154 |
| 63 | OXSR1 | 0.83795395 |
| 64 | PLK3 | 0.83435967 |
| 65 | PLK2 | 0.82829610 |
| 66 | DYRK3 | 0.81445546 |
| 67 | CDK3 | 0.80890452 |
| 68 | GRK7 | 0.79048793 |
| 69 | ADRBK2 | 0.78726521 |
| 70 | YES1 | 0.78693968 |
| 71 | PLK1 | 0.78571285 |
| 72 | MUSK | 0.78037180 |
| 73 | MAPKAPK3 | 0.76240519 |
| 74 | NEK6 | 0.75481038 |
| 75 | GRK5 | 0.74155378 |
| 76 | CLK1 | 0.73543893 |
| 77 | NLK | 0.71550321 |
| 78 | CCNB1 | 0.71076655 |
| 79 | CAMK2B | 0.70985451 |
| 80 | CAMK2D | 0.68036192 |
| 81 | INSRR | 0.67842156 |
| 82 | TEC | 0.65905208 |
| 83 | ADRBK1 | 0.64566634 |
| 84 | BLK | 0.63310885 |
| 85 | PAK3 | 0.61872462 |
| 86 | FER | 0.60676646 |
| 87 | TESK1 | 0.60294332 |
| 88 | ABL2 | 0.59988012 |
| 89 | MINK1 | 0.58990650 |
| 90 | CSNK2A1 | 0.58517501 |
| 91 | MAPK13 | 0.56097841 |
| 92 | CAMK2A | 0.54705664 |
| 93 | STK38L | 0.54336614 |
| 94 | RPS6KA5 | 0.54022155 |
| 95 | MARK1 | 0.53414145 |
| 96 | OBSCN | 0.53287853 |
| 97 | WNK4 | 0.51555883 |
| 98 | CDC7 | 0.51549597 |
| 99 | PNCK | 0.50969454 |
| 100 | MAP2K6 | 0.50827874 |
| 101 | ILK | 0.50512355 |
| 102 | ACVR1B | 0.50068838 |
| 103 | TAF1 | 0.49654541 |
| 104 | MAPK15 | 0.49354110 |
| 105 | MYLK | 0.48052659 |
| 106 | AURKB | 0.47785364 |
| 107 | BRSK1 | 0.47600646 |
| 108 | CSNK2A2 | 0.47394055 |
| 109 | PRKCE | 0.47361286 |
| 110 | CAMK2G | 0.46835087 |
| 111 | PRKCI | 0.45308081 |
| 112 | TAOK3 | 0.43097906 |
| 113 | IKBKB | 0.43086687 |
| 114 | ATR | 0.42938562 |
| 115 | BRSK2 | 0.42765251 |
| 116 | TTK | 0.42648205 |
| 117 | CSNK1A1 | 0.42297828 |
| 118 | NUAK1 | 0.42182491 |
| 119 | DAPK3 | 0.42151170 |
| 120 | CDK14 | 0.40362088 |
| 121 | CHEK2 | 0.40169575 |
| 122 | PRKCG | 0.39644363 |
| 123 | RPS6KA4 | 0.39314421 |
| 124 | DYRK1A | 0.36587703 |
| 125 | TXK | 0.36456888 |
| 126 | MAP3K4 | 0.35486303 |
| 127 | CDK7 | 0.35294381 |
| 128 | TIE1 | 0.34459531 |
| 129 | CDK9 | 0.33767760 |
| 130 | CSNK1G3 | 0.33090539 |
| 131 | UHMK1 | 0.32918167 |
| 132 | GRK1 | 0.29939644 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Ribosome_Homo sapiens_hsa03010 | 5.27547648 |
| 2 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 4.09786520 |
| 3 | RNA polymerase_Homo sapiens_hsa03020 | 4.02469294 |
| 4 | Protein export_Homo sapiens_hsa03060 | 3.75727087 |
| 5 | Proteasome_Homo sapiens_hsa03050 | 3.49288536 |
| 6 | Parkinsons disease_Homo sapiens_hsa05012 | 3.27895963 |
| 7 | Huntingtons disease_Homo sapiens_hsa05016 | 2.68512318 |
| 8 | Homologous recombination_Homo sapiens_hsa03440 | 2.42030504 |
| 9 | Alzheimers disease_Homo sapiens_hsa05010 | 2.36149515 |
| 10 | DNA replication_Homo sapiens_hsa03030 | 2.35124560 |
| 11 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 2.34861805 |
| 12 | Basal transcription factors_Homo sapiens_hsa03022 | 2.34447251 |
| 13 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.26608426 |
| 14 | Spliceosome_Homo sapiens_hsa03040 | 2.21226161 |
| 15 | Mismatch repair_Homo sapiens_hsa03430 | 2.18839837 |
| 16 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.07667472 |
| 17 | Nucleotide excision repair_Homo sapiens_hsa03420 | 2.03659132 |
| 18 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.88676547 |
| 19 | Phototransduction_Homo sapiens_hsa04744 | 1.61817316 |
| 20 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.61265711 |
| 21 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 1.51700479 |
| 22 | Purine metabolism_Homo sapiens_hsa00230 | 1.48170106 |
| 23 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.46401564 |
| 24 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.44735036 |
| 25 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.41449825 |
| 26 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.35927071 |
| 27 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.30094857 |
| 28 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 1.28511617 |
| 29 | Base excision repair_Homo sapiens_hsa03410 | 1.27977732 |
| 30 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.24962917 |
| 31 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.21430686 |
| 32 | * RNA transport_Homo sapiens_hsa03013 | 1.20272186 |
| 33 | Cell cycle_Homo sapiens_hsa04110 | 1.08217759 |
| 34 | RNA degradation_Homo sapiens_hsa03018 | 1.07545602 |
| 35 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.06284788 |
| 36 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.06251371 |
| 37 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.04073876 |
| 38 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.03427507 |
| 39 | Peroxisome_Homo sapiens_hsa04146 | 0.97455675 |
| 40 | Sulfur relay system_Homo sapiens_hsa04122 | 0.95507367 |
| 41 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.92700816 |
| 42 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.89234264 |
| 43 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.89128901 |
| 44 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.87315783 |
| 45 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.86679960 |
| 46 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.86576944 |
| 47 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.84723732 |
| 48 | Nicotine addiction_Homo sapiens_hsa05033 | 0.80904397 |
| 49 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.79389078 |
| 50 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.78987482 |
| 51 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.77839337 |
| 52 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.75814764 |
| 53 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.75576825 |
| 54 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.75351851 |
| 55 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.75247075 |
| 56 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.73447532 |
| 57 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.68021171 |
| 58 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.64999498 |
| 59 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.64494153 |
| 60 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.64408836 |
| 61 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.63795206 |
| 62 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.62160665 |
| 63 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.62114553 |
| 64 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.61870829 |
| 65 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.61759532 |
| 66 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.61561163 |
| 67 | Metabolic pathways_Homo sapiens_hsa01100 | 0.61476034 |
| 68 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.60755689 |
| 69 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.59862291 |
| 70 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.58316058 |
| 71 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.57486849 |
| 72 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.57275541 |
| 73 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.57136356 |
| 74 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.56179635 |
| 75 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.54739464 |
| 76 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.54039619 |
| 77 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.54002555 |
| 78 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.53989583 |
| 79 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.53248483 |
| 80 | Carbon metabolism_Homo sapiens_hsa01200 | 0.51937946 |
| 81 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.50854201 |
| 82 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.49697783 |
| 83 | Phagosome_Homo sapiens_hsa04145 | 0.49356398 |
| 84 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.49009554 |
| 85 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.47564714 |
| 86 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.46724521 |
| 87 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.45188274 |
| 88 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.43748276 |
| 89 | Long-term depression_Homo sapiens_hsa04730 | 0.43334072 |
| 90 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.43027231 |
| 91 | Other glycan degradation_Homo sapiens_hsa00511 | 0.41839320 |
| 92 | Taste transduction_Homo sapiens_hsa04742 | 0.41612223 |
| 93 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.38693494 |
| 94 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.38692119 |
| 95 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.38510165 |
| 96 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.38435103 |
| 97 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.38193797 |
| 98 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.35529666 |
| 99 | Melanoma_Homo sapiens_hsa05218 | 0.34912371 |
| 100 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.34282883 |
| 101 | Alcoholism_Homo sapiens_hsa05034 | 0.32540152 |
| 102 | * mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.31389778 |
| 103 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.31365715 |
| 104 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.31303315 |
| 105 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.26028167 |
| 106 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.25981884 |
| 107 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.25847237 |
| 108 | Mineral absorption_Homo sapiens_hsa04978 | 0.25741321 |
| 109 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.25359357 |
| 110 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.24364566 |
| 111 | Asthma_Homo sapiens_hsa05310 | 0.22382672 |
| 112 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.22020060 |
| 113 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.21208101 |
| 114 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.20651600 |
| 115 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.20278983 |
| 116 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.18311849 |
| 117 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.16041967 |
| 118 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.15708599 |
| 119 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.15425582 |
| 120 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.15053909 |
| 121 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.15006229 |
| 122 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.14569895 |
| 123 | Morphine addiction_Homo sapiens_hsa05032 | 0.14014471 |
| 124 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.12723768 |
| 125 | GABAergic synapse_Homo sapiens_hsa04727 | 0.12186753 |
| 126 | Allograft rejection_Homo sapiens_hsa05330 | 0.12098466 |
| 127 | Retinol metabolism_Homo sapiens_hsa00830 | 0.11585579 |
| 128 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.11449139 |
| 129 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.09949729 |
| 130 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.09066628 |
| 131 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.08207924 |
| 132 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.07174441 |

