

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | piRNA metabolic process (GO:0034587) | 5.95270119 |
| 2 | fusion of sperm to egg plasma membrane (GO:0007342) | 4.67664689 |
| 3 | central nervous system myelination (GO:0022010) | 4.58264684 |
| 4 | axon ensheathment in central nervous system (GO:0032291) | 4.58264684 |
| 5 | male meiosis (GO:0007140) | 4.46592368 |
| 6 | protein neddylation (GO:0045116) | 4.45278385 |
| 7 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.42239285 |
| 8 | DNA methylation involved in gamete generation (GO:0043046) | 4.39526265 |
| 9 | synaptonemal complex organization (GO:0070193) | 4.36194619 |
| 10 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 4.13027032 |
| 11 | synaptonemal complex assembly (GO:0007130) | 4.11009505 |
| 12 | fatty acid elongation (GO:0030497) | 4.03284420 |
| 13 | sperm-egg recognition (GO:0035036) | 3.91557947 |
| 14 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 3.90676951 |
| 15 | proteasome assembly (GO:0043248) | 3.89976121 |
| 16 | binding of sperm to zona pellucida (GO:0007339) | 3.89702469 |
| 17 | DNA deamination (GO:0045006) | 3.89457522 |
| 18 | respiratory chain complex IV assembly (GO:0008535) | 3.87588776 |
| 19 | termination of RNA polymerase III transcription (GO:0006386) | 3.85150506 |
| 20 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 3.85150506 |
| 21 | male meiosis I (GO:0007141) | 3.80287205 |
| 22 | cullin deneddylation (GO:0010388) | 3.75851862 |
| 23 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 3.74350677 |
| 24 | negative regulation of ligase activity (GO:0051352) | 3.74350677 |
| 25 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 3.72730482 |
| 26 | axonemal dynein complex assembly (GO:0070286) | 3.64344579 |
| 27 | regulation of mitochondrial translation (GO:0070129) | 3.63753387 |
| 28 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 3.63409210 |
| 29 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 3.63043958 |
| 30 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 3.62201801 |
| 31 | sperm motility (GO:0030317) | 3.59772316 |
| 32 | ATP synthesis coupled proton transport (GO:0015986) | 3.58055530 |
| 33 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 3.58055530 |
| 34 | intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 3.57460088 |
| 35 | signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 3.57460088 |
| 36 | organelle disassembly (GO:1903008) | 3.57233454 |
| 37 | GTP biosynthetic process (GO:0006183) | 3.56119492 |
| 38 | regulation of cellular amino acid metabolic process (GO:0006521) | 3.55910550 |
| 39 | signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 3.54439890 |
| 40 | signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 3.54439890 |
| 41 | signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 3.54439890 |
| 42 | acrosome reaction (GO:0007340) | 3.51706015 |
| 43 | ribonucleoprotein complex disassembly (GO:0032988) | 3.50653482 |
| 44 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 3.49269938 |
| 45 | 7-methylguanosine mRNA capping (GO:0006370) | 3.46401583 |
| 46 | meiosis I (GO:0007127) | 3.46185597 |
| 47 | protein deneddylation (GO:0000338) | 3.45715405 |
| 48 | protein-cofactor linkage (GO:0018065) | 3.45593349 |
| 49 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 3.43496030 |
| 50 | NADH dehydrogenase complex assembly (GO:0010257) | 3.43425488 |
| 51 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 3.43425488 |
| 52 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 3.43425488 |
| 53 | signal transduction involved in DNA integrity checkpoint (GO:0072401) | 3.42602531 |
| 54 | signal transduction involved in DNA damage checkpoint (GO:0072422) | 3.42602531 |
| 55 | chaperone-mediated protein transport (GO:0072321) | 3.40834770 |
| 56 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 3.40724922 |
| 57 | 7-methylguanosine RNA capping (GO:0009452) | 3.40251005 |
| 58 | RNA capping (GO:0036260) | 3.40251005 |
| 59 | signal transduction involved in cell cycle checkpoint (GO:0072395) | 3.39642494 |
| 60 | DNA damage response, detection of DNA damage (GO:0042769) | 3.37220223 |
| 61 | cytochrome complex assembly (GO:0017004) | 3.36248123 |
| 62 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 3.35643183 |
| 63 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 3.35643183 |
| 64 | cell-cell recognition (GO:0009988) | 3.35634907 |
| 65 | pseudouridine synthesis (GO:0001522) | 3.35273527 |
| 66 | multicellular organism reproduction (GO:0032504) | 3.33706826 |
| 67 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 3.33618753 |
| 68 | meiotic nuclear division (GO:0007126) | 3.33486331 |
| 69 | ribosomal small subunit biogenesis (GO:0042274) | 3.32505177 |
| 70 | spermatid development (GO:0007286) | 3.26125848 |
| 71 | chromosome organization involved in meiosis (GO:0070192) | 3.24737564 |
| 72 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO: | 3.22254112 |
| 73 | epithelial cilium movement (GO:0003351) | 3.21264084 |
| 74 | L-methionine salvage (GO:0071267) | 3.19024645 |
| 75 | L-methionine biosynthetic process (GO:0071265) | 3.19024645 |
| 76 | amino acid salvage (GO:0043102) | 3.19024645 |
| 77 | guanosine-containing compound biosynthetic process (GO:1901070) | 3.18360214 |
| 78 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 3.17011913 |
| 79 | UTP biosynthetic process (GO:0006228) | 3.16975076 |
| 80 | behavioral response to nicotine (GO:0035095) | 3.15656055 |
| 81 | protein complex biogenesis (GO:0070271) | 3.14937296 |
| 82 | plasma membrane fusion (GO:0045026) | 3.13970265 |
| 83 | ribosomal small subunit assembly (GO:0000028) | 3.13910973 |
| 84 | positive regulation of mitochondrial fission (GO:0090141) | 3.13837440 |
| 85 | positive regulation of ligase activity (GO:0051351) | 3.13595594 |
| 86 | peptidyl-histidine modification (GO:0018202) | 3.08929864 |
| 87 | microtubule polymerization or depolymerization (GO:0031109) | 3.06094786 |
| 88 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 3.03407994 |
| 89 | regulation of cilium movement (GO:0003352) | 3.02231303 |
| 90 | histone exchange (GO:0043486) | 3.01801954 |
| 91 | base-excision repair, AP site formation (GO:0006285) | 3.01771975 |
| 92 | establishment of integrated proviral latency (GO:0075713) | 3.01578281 |
| 93 | regulation of ubiquitin-protein transferase activity (GO:0051438) | 2.99303758 |
| 94 | regulation of ligase activity (GO:0051340) | 2.97238400 |
| 95 | mitochondrial respiratory chain complex assembly (GO:0033108) | 2.95248059 |
| 96 | blastocyst development (GO:0001824) | 2.95182590 |
| 97 | protein K6-linked ubiquitination (GO:0085020) | 2.95175879 |
| 98 | antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590) | 2.95094424 |
| 99 | CENP-A containing nucleosome assembly (GO:0034080) | 2.94694021 |
| 100 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.92987844 |
| 101 | protein targeting to mitochondrion (GO:0006626) | 2.91174029 |
| 102 | respiratory electron transport chain (GO:0022904) | 2.90328191 |
| 103 | electron transport chain (GO:0022900) | 2.89027072 |
| 104 | spliceosomal snRNP assembly (GO:0000387) | 2.88649843 |
| 105 | chromatin remodeling at centromere (GO:0031055) | 2.88551416 |
| 106 | maturation of SSU-rRNA (GO:0030490) | 2.88495716 |
| 107 | establishment of protein localization to mitochondrion (GO:0072655) | 2.87659529 |
| 108 | acrosome assembly (GO:0001675) | 2.87325305 |
| 109 | DNA strand elongation involved in DNA replication (GO:0006271) | 2.86982206 |
| 110 | protein localization to mitochondrion (GO:0070585) | 2.86818567 |
| 111 | GPI anchor biosynthetic process (GO:0006506) | 2.86712306 |
| 112 | cotranslational protein targeting to membrane (GO:0006613) | 2.86521525 |
| 113 | viral transcription (GO:0019083) | 2.85274971 |
| 114 | telomere maintenance via semi-conservative replication (GO:0032201) | 2.84671859 |
| 115 | tRNA processing (GO:0008033) | 2.84647306 |
| 116 | water-soluble vitamin biosynthetic process (GO:0042364) | 2.84351741 |
| 117 | DNA damage response, signal transduction by p53 class mediator (GO:0030330) | 2.84165423 |
| 118 | negative regulation of transcription regulatory region DNA binding (GO:2000678) | 2.83372452 |
| 119 | regulation of sarcomere organization (GO:0060297) | 2.83313491 |
| 120 | transcription-coupled nucleotide-excision repair (GO:0006283) | 2.83186085 |
| 121 | CTP metabolic process (GO:0046036) | 2.82827498 |
| 122 | CTP biosynthetic process (GO:0006241) | 2.82827498 |
| 123 | mannosylation (GO:0097502) | 2.82604710 |
| 124 | rRNA modification (GO:0000154) | 2.82500433 |
| 125 | preassembly of GPI anchor in ER membrane (GO:0016254) | 2.78773732 |
| 126 | replication fork processing (GO:0031297) | 2.74712461 |
| 127 | pyrimidine deoxyribonucleotide catabolic process (GO:0009223) | 2.73612236 |
| 128 | ubiquinone biosynthetic process (GO:0006744) | 2.65456352 |
| 129 | somatic diversification of immune receptors via somatic mutation (GO:0002566) | 2.63487018 |
| 130 | somatic hypermutation of immunoglobulin genes (GO:0016446) | 2.63487018 |
| 131 | tRNA metabolic process (GO:0006399) | 2.62721971 |
| 132 | ubiquinone metabolic process (GO:0006743) | 2.58956485 |
| 133 | iron-sulfur cluster assembly (GO:0016226) | 2.58686097 |
| 134 | metallo-sulfur cluster assembly (GO:0031163) | 2.58686097 |
| 135 | regulation of nuclear cell cycle DNA replication (GO:0033262) | 2.58485589 |
| 136 | histone H2A acetylation (GO:0043968) | 2.58457548 |
| 137 | DNA double-strand break processing (GO:0000729) | 2.58423776 |
| 138 | postreplication repair (GO:0006301) | 2.57036469 |
| 139 | cornea development in camera-type eye (GO:0061303) | 2.57024510 |
| 140 | platelet dense granule organization (GO:0060155) | 2.56455554 |
| 141 | L-serine metabolic process (GO:0006563) | 2.55397111 |
| 142 | regulation of mitotic spindle checkpoint (GO:1903504) | 2.52847133 |
| 143 | regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266) | 2.52847133 |
| 144 | inner mitochondrial membrane organization (GO:0007007) | 2.50193185 |
| 145 | establishment of viral latency (GO:0019043) | 2.49874547 |
| 146 | intracellular protein transmembrane import (GO:0044743) | 2.49070856 |
| 147 | hydrogen ion transmembrane transport (GO:1902600) | 2.47205587 |
| 148 | DNA catabolic process, exonucleolytic (GO:0000738) | 2.47158706 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 5.16971406 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.25256125 |
| 3 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 4.21854781 |
| 4 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 4.17233034 |
| 5 | * JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 3.92691819 |
| 6 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 3.90135967 |
| 7 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 3.71514551 |
| 8 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 3.42952792 |
| 9 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 3.42395606 |
| 10 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 3.40898352 |
| 11 | ZNF274_21170338_ChIP-Seq_K562_Hela | 3.28303110 |
| 12 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 3.14655218 |
| 13 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 3.11899713 |
| 14 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 2.95861761 |
| 15 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 2.94460891 |
| 16 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.88211859 |
| 17 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 2.74286978 |
| 18 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 2.67796105 |
| 19 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 2.66535197 |
| 20 | VDR_23849224_ChIP-Seq_CD4+_Human | 2.56510577 |
| 21 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 2.52588262 |
| 22 | E2F7_22180533_ChIP-Seq_HELA_Human | 2.51434761 |
| 23 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 2.28528933 |
| 24 | DCP1A_22483619_ChIP-Seq_HELA_Human | 2.24336607 |
| 25 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 2.22280885 |
| 26 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 2.18917684 |
| 27 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 2.11644922 |
| 28 | FOXP3_21729870_ChIP-Seq_TREG_Human | 2.10445733 |
| 29 | XRN2_22483619_ChIP-Seq_HELA_Human | 2.09097394 |
| 30 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 2.03334630 |
| 31 | * E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.96288506 |
| 32 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.94090630 |
| 33 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.89846727 |
| 34 | * GABP_19822575_ChIP-Seq_HepG2_Human | 1.89541781 |
| 35 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.86093975 |
| 36 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.83735839 |
| 37 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.82458204 |
| 38 | * NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.79917013 |
| 39 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.79224535 |
| 40 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.74083768 |
| 41 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.73146853 |
| 42 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.65048394 |
| 43 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.64260960 |
| 44 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.57060085 |
| 45 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.56061641 |
| 46 | EWS_26573619_Chip-Seq_HEK293_Human | 1.52027097 |
| 47 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.51643674 |
| 48 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 1.50915210 |
| 49 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.46022826 |
| 50 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.45985293 |
| 51 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.45862182 |
| 52 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.42664074 |
| 53 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.41952222 |
| 54 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.41857276 |
| 55 | FUS_26573619_Chip-Seq_HEK293_Human | 1.35284518 |
| 56 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.34689590 |
| 57 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.33652529 |
| 58 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.30542521 |
| 59 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.26942386 |
| 60 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.25807420 |
| 61 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.25406740 |
| 62 | SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 1.22757556 |
| 63 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.22375935 |
| 64 | ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 1.21201704 |
| 65 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.20553646 |
| 66 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.19667969 |
| 67 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.19386751 |
| 68 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.19284137 |
| 69 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.19163891 |
| 70 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.18205325 |
| 71 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.17793252 |
| 72 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.15790054 |
| 73 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.15601366 |
| 74 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 1.15486386 |
| 75 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.15475127 |
| 76 | CIITA_25753668_ChIP-Seq_RAJI_Human | 1.13060779 |
| 77 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.12975695 |
| 78 | P300_19829295_ChIP-Seq_ESCs_Human | 1.12731935 |
| 79 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.12576584 |
| 80 | * CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.12179891 |
| 81 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.11900487 |
| 82 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.11601660 |
| 83 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.09605153 |
| 84 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.08929268 |
| 85 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.08684192 |
| 86 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.08378039 |
| 87 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 1.07447039 |
| 88 | * E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 1.05369682 |
| 89 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 1.03018835 |
| 90 | TBX5_21415370_ChIP-Seq_HL-1_Mouse | 1.00394703 |
| 91 | SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.00064549 |
| 92 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 0.97880034 |
| 93 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 0.97331612 |
| 94 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 0.96449776 |
| 95 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 0.96169498 |
| 96 | * KDM5A_27292631_Chip-Seq_BREAST_Human | 0.95454752 |
| 97 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 0.95403574 |
| 98 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 0.91158310 |
| 99 | TAF15_26573619_Chip-Seq_HEK293_Human | 0.90373828 |
| 100 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 0.90266039 |
| 101 | MYC_18940864_ChIP-ChIP_HL60_Human | 0.87773744 |
| 102 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 0.86423549 |
| 103 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 0.86014208 |
| 104 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 0.86014208 |
| 105 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 0.86014208 |
| 106 | NCOR_22424771_ChIP-Seq_293T_Human | 0.84893857 |
| 107 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.83426435 |
| 108 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 0.82017453 |
| 109 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 0.81009105 |
| 110 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 0.81009105 |
| 111 | STAT1_20625510_ChIP-Seq_HELA_Human | 0.80724652 |
| 112 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 0.80438078 |
| 113 | ER_23166858_ChIP-Seq_MCF-7_Human | 0.80399367 |
| 114 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 0.80339161 |
| 115 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.79652897 |
| 116 | VDR_22108803_ChIP-Seq_LS180_Human | 0.78234166 |
| 117 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 0.77751435 |
| 118 | CBP_20019798_ChIP-Seq_JUKART_Human | 0.77664379 |
| 119 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 0.77664379 |
| 120 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 0.77394948 |
| 121 | * FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.76941025 |
| 122 | CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human | 0.75862433 |
| 123 | TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse | 0.75721434 |
| 124 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 0.75138965 |
| 125 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 0.74380385 |
| 126 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 0.73395353 |
| 127 | CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 0.73337104 |
| 128 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 0.73225013 |
| 129 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 0.72681047 |
| 130 | SPI1_23547873_ChIP-Seq_NB4_Human | 0.72600333 |
| 131 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 0.72085476 |
| 132 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 0.71684335 |
| 133 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 0.71124669 |
| 134 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 0.70810872 |
| 135 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 0.70804518 |
| 136 | NANOG_20526341_ChIP-Seq_ESCs_Human | 0.70616078 |
| 137 | CTCF_26484167_Chip-Seq_Bcells_Mouse | 0.70321641 |
| 138 | * KLF4_18555785_ChIP-Seq_MESCs_Mouse | 0.68545207 |
| 139 | GFI1B_20887958_ChIP-Seq_HPC-7_Mouse | 0.68166009 |
| 140 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 0.68116023 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 5.95110389 |
| 2 | MP0008877_abnormal_DNA_methylation | 4.27006174 |
| 3 | MP0006292_abnormal_olfactory_placode | 3.28769774 |
| 4 | MP0008057_abnormal_DNA_replication | 2.97265853 |
| 5 | MP0003693_abnormal_embryo_hatching | 2.89477100 |
| 6 | MP0001929_abnormal_gametogenesis | 2.79808202 |
| 7 | MP0001986_abnormal_taste_sensitivity | 2.74181983 |
| 8 | MP0003698_abnormal_male_reproductive | 2.67229487 |
| 9 | MP0008058_abnormal_DNA_repair | 2.54140536 |
| 10 | MP0002210_abnormal_sex_determination | 2.51527161 |
| 11 | MP0010094_abnormal_chromosome_stability | 2.50960833 |
| 12 | MP0001529_abnormal_vocalization | 2.41067830 |
| 13 | MP0004147_increased_porphyrin_level | 2.38212909 |
| 14 | MP0000920_abnormal_myelination | 2.35660769 |
| 15 | MP0008932_abnormal_embryonic_tissue | 2.31009383 |
| 16 | MP0003806_abnormal_nucleotide_metabolis | 2.29658266 |
| 17 | MP0003950_abnormal_plasma_membrane | 2.29032596 |
| 18 | MP0005394_taste/olfaction_phenotype | 2.23817697 |
| 19 | MP0005499_abnormal_olfactory_system | 2.23817697 |
| 20 | MP0001905_abnormal_dopamine_level | 2.22858065 |
| 21 | MP0008260_abnormal_autophagy | 2.15390719 |
| 22 | MP0000372_irregular_coat_pigmentation | 2.09307107 |
| 23 | MP0001145_abnormal_male_reproductive | 2.08283354 |
| 24 | MP0004957_abnormal_blastocyst_morpholog | 2.05998695 |
| 25 | MP0003077_abnormal_cell_cycle | 2.04846644 |
| 26 | MP0008007_abnormal_cellular_replicative | 2.03880361 |
| 27 | MP0003787_abnormal_imprinting | 2.01212046 |
| 28 | MP0003786_premature_aging | 1.97390546 |
| 29 | MP0002736_abnormal_nociception_after | 1.87055217 |
| 30 | MP0003011_delayed_dark_adaptation | 1.83849436 |
| 31 | MP0004133_heterotaxia | 1.83056443 |
| 32 | MP0000653_abnormal_sex_gland | 1.77075795 |
| 33 | MP0002160_abnormal_reproductive_system | 1.77005075 |
| 34 | MP0002837_dystrophic_cardiac_calcinosis | 1.76731176 |
| 35 | MP0006036_abnormal_mitochondrial_physio | 1.74156221 |
| 36 | MP0003111_abnormal_nucleus_morphology | 1.72870150 |
| 37 | MP0010030_abnormal_orbit_morphology | 1.69233130 |
| 38 | MP0003121_genomic_imprinting | 1.67352036 |
| 39 | MP0003186_abnormal_redox_activity | 1.66058974 |
| 40 | MP0001968_abnormal_touch/_nociception | 1.63873088 |
| 41 | MP0009046_muscle_twitch | 1.52420244 |
| 42 | MP0003656_abnormal_erythrocyte_physiolo | 1.52009117 |
| 43 | MP0000749_muscle_degeneration | 1.42388948 |
| 44 | MP0002161_abnormal_fertility/fecundity | 1.41987588 |
| 45 | MP0000049_abnormal_middle_ear | 1.41166528 |
| 46 | MP0000631_abnormal_neuroendocrine_gland | 1.34916936 |
| 47 | MP0002938_white_spotting | 1.34884496 |
| 48 | MP0003880_abnormal_central_pattern | 1.30715946 |
| 49 | MP0001984_abnormal_olfaction | 1.30086057 |
| 50 | MP0003122_maternal_imprinting | 1.29436086 |
| 51 | MP0003195_calcinosis | 1.27134062 |
| 52 | MP0002234_abnormal_pharynx_morphology | 1.26220799 |
| 53 | MP0000566_synostosis | 1.25005956 |
| 54 | MP0002735_abnormal_chemical_nociception | 1.21661235 |
| 55 | MP0009379_abnormal_foot_pigmentation | 1.21352336 |
| 56 | MP0003567_abnormal_fetal_cardiomyocyte | 1.20024060 |
| 57 | MP0002638_abnormal_pupillary_reflex | 1.18676868 |
| 58 | MP0008995_early_reproductive_senescence | 1.17993957 |
| 59 | MP0003937_abnormal_limbs/digits/tail_de | 1.17965569 |
| 60 | MP0008872_abnormal_physiological_respon | 1.17435883 |
| 61 | MP0003136_yellow_coat_color | 1.15927284 |
| 62 | MP0003646_muscle_fatigue | 1.15793616 |
| 63 | MP0003718_maternal_effect | 1.14093393 |
| 64 | MP0009333_abnormal_splenocyte_physiolog | 1.14093102 |
| 65 | MP0002751_abnormal_autonomic_nervous | 1.13741437 |
| 66 | MP0004134_abnormal_chest_morphology | 1.12979289 |
| 67 | MP0005646_abnormal_pituitary_gland | 1.12844199 |
| 68 | MP0003119_abnormal_digestive_system | 1.12291570 |
| 69 | MP0002132_abnormal_respiratory_system | 1.09087510 |
| 70 | MP0002653_abnormal_ependyma_morphology | 1.08290619 |
| 71 | MP0004036_abnormal_muscle_relaxation | 1.08110488 |
| 72 | MP0005171_absent_coat_pigmentation | 1.07783339 |
| 73 | MP0008875_abnormal_xenobiotic_pharmacok | 1.05953127 |
| 74 | MP0001485_abnormal_pinna_reflex | 1.05083760 |
| 75 | MP0001661_extended_life_span | 1.02881965 |
| 76 | MP0003938_abnormal_ear_development | 1.02830420 |
| 77 | MP0005084_abnormal_gallbladder_morpholo | 1.02016062 |
| 78 | MP0004270_analgesia | 1.01977431 |
| 79 | MP0001727_abnormal_embryo_implantation | 1.00754765 |
| 80 | MP0004142_abnormal_muscle_tone | 1.00552061 |
| 81 | MP0006035_abnormal_mitochondrial_morpho | 0.99550186 |
| 82 | MP0000778_abnormal_nervous_system | 0.99174123 |
| 83 | MP0002233_abnormal_nose_morphology | 0.98843521 |
| 84 | MP0000516_abnormal_urinary_system | 0.98736785 |
| 85 | MP0005367_renal/urinary_system_phenotyp | 0.98736785 |
| 86 | MP0001730_embryonic_growth_arrest | 0.97831258 |
| 87 | MP0005075_abnormal_melanosome_morpholog | 0.97583490 |
| 88 | MP0005391_vision/eye_phenotype | 0.96835093 |
| 89 | MP0001486_abnormal_startle_reflex | 0.92740745 |
| 90 | MP0002822_catalepsy | 0.92523617 |
| 91 | MP0009745_abnormal_behavioral_response | 0.91377813 |
| 92 | MP0006276_abnormal_autonomic_nervous | 0.90947004 |
| 93 | MP0003315_abnormal_perineum_morphology | 0.89885404 |
| 94 | MP0005671_abnormal_response_to | 0.88136716 |
| 95 | MP0002090_abnormal_vision | 0.86895169 |
| 96 | MP0000026_abnormal_inner_ear | 0.85107135 |
| 97 | MP0001286_abnormal_eye_development | 0.84629220 |
| 98 | MP0002229_neurodegeneration | 0.83660577 |
| 99 | MP0002557_abnormal_social/conspecific_i | 0.83032789 |
| 100 | MP0005645_abnormal_hypothalamus_physiol | 0.82809184 |
| 101 | MP0005389_reproductive_system_phenotype | 0.82210959 |
| 102 | MP0004145_abnormal_muscle_electrophysio | 0.81212933 |
| 103 | MP0002396_abnormal_hematopoietic_system | 0.81112093 |
| 104 | MP0000358_abnormal_cell_content/ | 0.80841524 |
| 105 | MP0006072_abnormal_retinal_apoptosis | 0.80540850 |
| 106 | MP0005253_abnormal_eye_physiology | 0.80329613 |
| 107 | MP0002282_abnormal_trachea_morphology | 0.80138536 |
| 108 | MP0002734_abnormal_mechanical_nocicepti | 0.78253871 |
| 109 | MP0001764_abnormal_homeostasis | 0.78124384 |
| 110 | MP0003890_abnormal_embryonic-extraembry | 0.77870801 |
| 111 | MP0001293_anophthalmia | 0.77670571 |
| 112 | MP0003634_abnormal_glial_cell | 0.77437808 |
| 113 | MP0004924_abnormal_behavior | 0.76555077 |
| 114 | MP0005386_behavior/neurological_phenoty | 0.76555077 |
| 115 | MP0002277_abnormal_respiratory_mucosa | 0.75323470 |
| 116 | MP0003755_abnormal_palate_morphology | 0.75074189 |
| 117 | MP0005195_abnormal_posterior_eye | 0.75016769 |
| 118 | MP0001919_abnormal_reproductive_system | 0.74228866 |
| 119 | MP0005408_hypopigmentation | 0.73344892 |
| 120 | * MP0000313_abnormal_cell_death | 0.73058473 |
| 121 | MP0004084_abnormal_cardiac_muscle | 0.69607080 |
| 122 | MP0001970_abnormal_pain_threshold | 0.66545467 |
| 123 | MP0002163_abnormal_gland_morphology | 0.66200946 |
| 124 | MP0000747_muscle_weakness | 0.66107124 |
| 125 | MP0005551_abnormal_eye_electrophysiolog | 0.65849198 |
| 126 | MP0005409_darkened_coat_color | 0.65727557 |
| 127 | MP0004043_abnormal_pH_regulation | 0.64827022 |
| 128 | MP0005330_cardiomyopathy | 0.64615643 |
| 129 | MP0002272_abnormal_nervous_system | 0.64488706 |
| 130 | MP0003221_abnormal_cardiomyocyte_apopto | 0.61987334 |
| 131 | MP0004742_abnormal_vestibular_system | 0.61467510 |
| 132 | MP0002102_abnormal_ear_morphology | 0.61462382 |
| 133 | MP0002752_abnormal_somatic_nervous | 0.60858152 |
| 134 | MP0008789_abnormal_olfactory_epithelium | 0.60170564 |
| 135 | MP0000647_abnormal_sebaceous_gland | 0.59525678 |
| 136 | MP0000751_myopathy | 0.58731350 |
| 137 | MP0009840_abnormal_foam_cell | 0.58365900 |
| 138 | MP0009697_abnormal_copulation | 0.58234889 |
| 139 | MP0002095_abnormal_skin_pigmentation | 0.57953028 |
| 140 | MP0003329_amyloid_beta_deposits | 0.57560497 |
| 141 | MP0001542_abnormal_bone_strength | 0.56118245 |
| 142 | MP0001697_abnormal_embryo_size | 0.55187329 |
| 143 | MP0004215_abnormal_myocardial_fiber | 0.53991285 |
| 144 | MP0003763_abnormal_thymus_physiology | 0.53348078 |
| 145 | MP0003632_abnormal_nervous_system | 0.52469806 |
| 146 | MP0003137_abnormal_impulse_conducting | 0.51406488 |
| 147 | MP0003878_abnormal_ear_physiology | 0.51389541 |
| 148 | MP0005377_hearing/vestibular/ear_phenot | 0.51389541 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Acute necrotizing encephalopathy (HP:0006965) | 4.53878985 |
| 2 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.52803142 |
| 3 | Abnormality of glycolysis (HP:0004366) | 4.24044960 |
| 4 | Increased serum pyruvate (HP:0003542) | 4.24044960 |
| 5 | Cerebral hypomyelination (HP:0006808) | 4.15340145 |
| 6 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 4.07822802 |
| 7 | Absent/shortened dynein arms (HP:0200106) | 4.07822802 |
| 8 | Mitochondrial inheritance (HP:0001427) | 4.04519120 |
| 9 | Abnormal mitochondria in muscle tissue (HP:0008316) | 3.97761904 |
| 10 | Hepatocellular necrosis (HP:0001404) | 3.89099374 |
| 11 | Acute encephalopathy (HP:0006846) | 3.60125988 |
| 12 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.52523388 |
| 13 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.52523388 |
| 14 | Hepatic necrosis (HP:0002605) | 3.49523038 |
| 15 | Progressive macrocephaly (HP:0004481) | 3.48521178 |
| 16 | Increased CSF lactate (HP:0002490) | 3.48146335 |
| 17 | Increased hepatocellular lipid droplets (HP:0006565) | 3.29834332 |
| 18 | 3-Methylglutaconic aciduria (HP:0003535) | 3.21160668 |
| 19 | Abnormality of cells of the erythroid lineage (HP:0012130) | 3.16741086 |
| 20 | Abnormal number of erythroid precursors (HP:0012131) | 3.12171895 |
| 21 | True hermaphroditism (HP:0010459) | 3.07147860 |
| 22 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.04774228 |
| 23 | Lipid accumulation in hepatocytes (HP:0006561) | 3.03175146 |
| 24 | Gonadotropin excess (HP:0000837) | 2.97450045 |
| 25 | Hypothermia (HP:0002045) | 2.90239956 |
| 26 | Renal Fanconi syndrome (HP:0001994) | 2.87794847 |
| 27 | Leukodystrophy (HP:0002415) | 2.86234654 |
| 28 | Rhinitis (HP:0012384) | 2.74073864 |
| 29 | Increased serum lactate (HP:0002151) | 2.70150349 |
| 30 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 2.68285081 |
| 31 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 2.68285081 |
| 32 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 2.65686649 |
| 33 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 2.64537019 |
| 34 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 2.63902653 |
| 35 | Renal cortical cysts (HP:0000803) | 2.62043371 |
| 36 | Reticulocytopenia (HP:0001896) | 2.55896060 |
| 37 | Respiratory failure (HP:0002878) | 2.54568600 |
| 38 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 2.54344077 |
| 39 | Congenital primary aphakia (HP:0007707) | 2.50442444 |
| 40 | Gait imbalance (HP:0002141) | 2.50157732 |
| 41 | Poor suck (HP:0002033) | 2.47237594 |
| 42 | Degeneration of anterior horn cells (HP:0002398) | 2.45226592 |
| 43 | Abnormality of the anterior horn cell (HP:0006802) | 2.45226592 |
| 44 | Lactic acidosis (HP:0003128) | 2.45062650 |
| 45 | Nephrogenic diabetes insipidus (HP:0009806) | 2.43212084 |
| 46 | Exercise intolerance (HP:0003546) | 2.42986650 |
| 47 | Abnormality of the labia minora (HP:0012880) | 2.42496220 |
| 48 | Abnormal ciliary motility (HP:0012262) | 2.40677443 |
| 49 | Abnormal spermatogenesis (HP:0008669) | 2.39320284 |
| 50 | CNS hypomyelination (HP:0003429) | 2.39065727 |
| 51 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 2.38951186 |
| 52 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 2.38951186 |
| 53 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.38494215 |
| 54 | Absent epiphyses (HP:0010577) | 2.38494215 |
| 55 | Exertional dyspnea (HP:0002875) | 2.37575944 |
| 56 | Abnormality of alanine metabolism (HP:0010916) | 2.36958516 |
| 57 | Hyperalaninemia (HP:0003348) | 2.36958516 |
| 58 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 2.36958516 |
| 59 | Sclerocornea (HP:0000647) | 2.35247795 |
| 60 | Optic disc pallor (HP:0000543) | 2.30520879 |
| 61 | Colon cancer (HP:0003003) | 2.27590885 |
| 62 | Abnormality of the renal cortex (HP:0011035) | 2.26666305 |
| 63 | Neuroendocrine neoplasm (HP:0100634) | 2.26342880 |
| 64 | Parakeratosis (HP:0001036) | 2.25797662 |
| 65 | Chronic bronchitis (HP:0004469) | 2.25497097 |
| 66 | Increased intramyocellular lipid droplets (HP:0012240) | 2.24376968 |
| 67 | Cerebral edema (HP:0002181) | 2.22954237 |
| 68 | Abnormality of renal resorption (HP:0011038) | 2.22072187 |
| 69 | Type I transferrin isoform profile (HP:0003642) | 2.21677624 |
| 70 | Congenital stationary night blindness (HP:0007642) | 2.21452229 |
| 71 | Respiratory difficulties (HP:0002880) | 2.17489386 |
| 72 | Type 2 muscle fiber atrophy (HP:0003554) | 2.17077879 |
| 73 | Hyperglycinemia (HP:0002154) | 2.16389144 |
| 74 | Abnormality of the renal medulla (HP:0100957) | 2.15805513 |
| 75 | Pendular nystagmus (HP:0012043) | 2.15315251 |
| 76 | Retinal dysplasia (HP:0007973) | 2.15102940 |
| 77 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 2.14939819 |
| 78 | Medial flaring of the eyebrow (HP:0010747) | 2.14008859 |
| 79 | Irregular epiphyses (HP:0010582) | 2.12929161 |
| 80 | Nephronophthisis (HP:0000090) | 2.12471003 |
| 81 | Hyperventilation (HP:0002883) | 2.11057756 |
| 82 | Attenuation of retinal blood vessels (HP:0007843) | 2.10584188 |
| 83 | Duplicated collecting system (HP:0000081) | 2.09826633 |
| 84 | Pheochromocytoma (HP:0002666) | 2.09290550 |
| 85 | Optic nerve hypoplasia (HP:0000609) | 2.08800345 |
| 86 | Calf muscle hypertrophy (HP:0008981) | 2.08742246 |
| 87 | Pancytopenia (HP:0001876) | 2.08285716 |
| 88 | Concave nail (HP:0001598) | 2.07880682 |
| 89 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.07051197 |
| 90 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.06984717 |
| 91 | Abnormal biliary tract physiology (HP:0012439) | 2.04819716 |
| 92 | Bile duct proliferation (HP:0001408) | 2.04819716 |
| 93 | Increased muscle lipid content (HP:0009058) | 2.03611858 |
| 94 | Genital tract atresia (HP:0001827) | 2.02784818 |
| 95 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 2.02277091 |
| 96 | Birth length less than 3rd percentile (HP:0003561) | 2.01916956 |
| 97 | Macrocytic anemia (HP:0001972) | 2.01002569 |
| 98 | Postnatal microcephaly (HP:0005484) | 2.00612406 |
| 99 | Carpal bone hypoplasia (HP:0001498) | 2.00591487 |
| 100 | Aplastic anemia (HP:0001915) | 2.00287261 |
| 101 | Emotional lability (HP:0000712) | 1.99570620 |
| 102 | Vaginal atresia (HP:0000148) | 1.99221958 |
| 103 | Autoamputation (HP:0001218) | 1.97492818 |
| 104 | Anencephaly (HP:0002323) | 1.95284838 |
| 105 | Type II lissencephaly (HP:0007260) | 1.95081442 |
| 106 | Abnormality of the renal collecting system (HP:0004742) | 1.91836903 |
| 107 | Methylmalonic acidemia (HP:0002912) | 1.89179971 |
| 108 | Methylmalonic aciduria (HP:0012120) | 1.88231489 |
| 109 | Lethargy (HP:0001254) | 1.88016414 |
| 110 | Impulsivity (HP:0100710) | 1.87959382 |
| 111 | Secondary amenorrhea (HP:0000869) | 1.87766123 |
| 112 | Exercise-induced muscle cramps (HP:0003710) | 1.86677549 |
| 113 | Short tibia (HP:0005736) | 1.85466031 |
| 114 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.84601894 |
| 115 | Rough bone trabeculation (HP:0100670) | 1.84454901 |
| 116 | CNS demyelination (HP:0007305) | 1.83351951 |
| 117 | Hypoplasia of the fovea (HP:0007750) | 1.82584324 |
| 118 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.82584324 |
| 119 | Muscle fiber splitting (HP:0003555) | 1.82529717 |
| 120 | Muscle fiber atrophy (HP:0100295) | 1.81973238 |
| 121 | Segmental peripheral demyelination/remyelination (HP:0003481) | 1.81594944 |
| 122 | Microvesicular hepatic steatosis (HP:0001414) | 1.81352517 |
| 123 | Pancreatic fibrosis (HP:0100732) | 1.81078513 |
| 124 | Absent septum pellucidum (HP:0001331) | 1.80221065 |
| 125 | Intestinal atresia (HP:0011100) | 1.79801934 |
| 126 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 1.79494254 |
| 127 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.79494254 |
| 128 | Abnormal protein glycosylation (HP:0012346) | 1.79494254 |
| 129 | Abnormal glycosylation (HP:0012345) | 1.79494254 |
| 130 | Molar tooth sign on MRI (HP:0002419) | 1.79415285 |
| 131 | Abnormality of midbrain morphology (HP:0002418) | 1.79415285 |
| 132 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.77159934 |
| 133 | Meckel diverticulum (HP:0002245) | 1.76845705 |
| 134 | Tubulointerstitial nephritis (HP:0001970) | 1.76548454 |
| 135 | X-linked dominant inheritance (HP:0001423) | 1.76545169 |
| 136 | Hepatosplenomegaly (HP:0001433) | 1.76408610 |
| 137 | Breast hypoplasia (HP:0003187) | 1.76286275 |
| 138 | Abnormality of the ileum (HP:0001549) | 1.74836266 |
| 139 | Tubular atrophy (HP:0000092) | 1.74514453 |
| 140 | Muscle hypertrophy of the lower extremities (HP:0008968) | 1.74306917 |
| 141 | Infertility (HP:0000789) | 1.74235361 |
| 142 | Azoospermia (HP:0000027) | 1.74057084 |
| 143 | Hyperglycinuria (HP:0003108) | 1.73290263 |
| 144 | Abnormality of the septum pellucidum (HP:0007375) | 1.73004127 |
| 145 | Male pseudohermaphroditism (HP:0000037) | 1.72902096 |
| 146 | Congenital ichthyosiform erythroderma (HP:0007431) | 1.71995625 |
| 147 | Poor coordination (HP:0002370) | 1.71012864 |
| 148 | Abnormality of serine family amino acid metabolism (HP:0010894) | 1.70438040 |
| 149 | Abnormality of glycine metabolism (HP:0010895) | 1.70438040 |
| 150 | 11 pairs of ribs (HP:0000878) | 1.69971264 |
| 151 | Abolished electroretinogram (ERG) (HP:0000550) | 1.69789372 |
| 152 | Inability to walk (HP:0002540) | 1.69758739 |
| 153 | Preaxial hand polydactyly (HP:0001177) | 1.69612578 |
| 154 | Aplasia/hypoplasia of the uterus (HP:0008684) | 1.69149064 |
| 155 | Pancreatic cysts (HP:0001737) | 1.68842872 |
| 156 | Upper limb muscle weakness (HP:0003484) | 1.67535945 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BUB1 | 4.30558431 |
| 2 | STK39 | 3.69207659 |
| 3 | PDK4 | 3.68664539 |
| 4 | PDK3 | 3.68664539 |
| 5 | VRK2 | 3.49322282 |
| 6 | STK16 | 3.36483263 |
| 7 | PBK | 2.71096133 |
| 8 | EIF2AK1 | 2.61187501 |
| 9 | WEE1 | 2.56504782 |
| 10 | TESK1 | 2.42126020 |
| 11 | MAP4K2 | 2.37704286 |
| 12 | WNK3 | 2.31015027 |
| 13 | PDK2 | 2.29035480 |
| 14 | TESK2 | 2.27502056 |
| 15 | TRIM28 | 2.21596759 |
| 16 | NME2 | 2.17699327 |
| 17 | LIMK1 | 2.13208171 |
| 18 | NUAK1 | 2.12135938 |
| 19 | WNK4 | 2.08052309 |
| 20 | MAP3K4 | 1.96046664 |
| 21 | CDK8 | 1.89004939 |
| 22 | BRSK2 | 1.84471283 |
| 23 | SRPK1 | 1.78825844 |
| 24 | MAPKAPK5 | 1.78521862 |
| 25 | FRK | 1.76660119 |
| 26 | EIF2AK3 | 1.68283684 |
| 27 | MAP2K7 | 1.67435612 |
| 28 | VRK1 | 1.66758948 |
| 29 | PNCK | 1.57609990 |
| 30 | MST4 | 1.57155427 |
| 31 | CDC7 | 1.50034412 |
| 32 | CASK | 1.50000871 |
| 33 | OXSR1 | 1.46788037 |
| 34 | NEK1 | 1.36743809 |
| 35 | PIM2 | 1.32942714 |
| 36 | PLK4 | 1.31148048 |
| 37 | TLK1 | 1.28550087 |
| 38 | GRK1 | 1.27957264 |
| 39 | BCR | 1.27587422 |
| 40 | DYRK3 | 1.26797253 |
| 41 | CDK19 | 1.24859439 |
| 42 | CSNK1G3 | 1.22246387 |
| 43 | BMPR1B | 1.22093921 |
| 44 | MKNK1 | 1.20246824 |
| 45 | DYRK2 | 1.19508611 |
| 46 | MUSK | 1.16783087 |
| 47 | CCNB1 | 1.10911477 |
| 48 | EPHA4 | 1.07382647 |
| 49 | TAF1 | 1.07036556 |
| 50 | TSSK6 | 1.03780638 |
| 51 | MARK1 | 1.03717010 |
| 52 | PLK2 | 0.97221892 |
| 53 | BCKDK | 0.95685884 |
| 54 | ARAF | 0.95534290 |
| 55 | RPS6KA5 | 0.94863498 |
| 56 | NEK2 | 0.94146437 |
| 57 | ACVR1B | 0.93419001 |
| 58 | EPHB1 | 0.90692258 |
| 59 | PASK | 0.89662403 |
| 60 | INSRR | 0.88601135 |
| 61 | BRAF | 0.85479336 |
| 62 | PLK1 | 0.84910214 |
| 63 | TNIK | 0.82373781 |
| 64 | OBSCN | 0.82228982 |
| 65 | ERBB3 | 0.80819592 |
| 66 | GRK7 | 0.80531433 |
| 67 | STK38L | 0.80300510 |
| 68 | CSNK1G1 | 0.79645370 |
| 69 | PRKCG | 0.77432493 |
| 70 | MYLK | 0.76668978 |
| 71 | ERBB4 | 0.75570423 |
| 72 | BRSK1 | 0.75567379 |
| 73 | WNK1 | 0.73952541 |
| 74 | PKN1 | 0.73706063 |
| 75 | NTRK1 | 0.73201815 |
| 76 | ADRBK2 | 0.72225134 |
| 77 | YES1 | 0.71698333 |
| 78 | AURKA | 0.71666622 |
| 79 | CSNK1A1L | 0.70322448 |
| 80 | PINK1 | 0.67260923 |
| 81 | EIF2AK2 | 0.66309936 |
| 82 | ATR | 0.65663028 |
| 83 | NME1 | 0.64361268 |
| 84 | PRKCE | 0.63779313 |
| 85 | PAK3 | 0.62719909 |
| 86 | MAP3K12 | 0.61740187 |
| 87 | PAK1 | 0.61012922 |
| 88 | KDR | 0.60754642 |
| 89 | EPHB2 | 0.60260181 |
| 90 | TTK | 0.60065384 |
| 91 | PRPF4B | 0.59646461 |
| 92 | PAK6 | 0.59576849 |
| 93 | BLK | 0.58246098 |
| 94 | TEC | 0.57760224 |
| 95 | MET | 0.56372097 |
| 96 | PRKCI | 0.56258401 |
| 97 | UHMK1 | 0.55993228 |
| 98 | PLK3 | 0.53729111 |
| 99 | CSNK2A1 | 0.52657875 |
| 100 | CHEK2 | 0.52570354 |
| 101 | CSNK1A1 | 0.52126738 |
| 102 | MKNK2 | 0.51679123 |
| 103 | DAPK1 | 0.49985809 |
| 104 | MINK1 | 0.49972232 |
| 105 | AURKB | 0.49807570 |
| 106 | MAPK15 | 0.47781307 |
| 107 | TGFBR1 | 0.46517183 |
| 108 | CSNK2A2 | 0.46073263 |
| 109 | STK4 | 0.45579099 |
| 110 | CSNK1G2 | 0.45162219 |
| 111 | ICK | 0.44753964 |
| 112 | IRAK1 | 0.44400515 |
| 113 | ZAK | 0.44228400 |
| 114 | CLK1 | 0.43981574 |
| 115 | ATM | 0.42311761 |
| 116 | MAPK13 | 0.41202477 |
| 117 | CDK7 | 0.40846170 |
| 118 | CAMK2B | 0.40823691 |
| 119 | PTK2B | 0.40653821 |
| 120 | CHEK1 | 0.40284207 |
| 121 | CSNK1D | 0.40106705 |
| 122 | PHKG2 | 0.40022972 |
| 123 | PHKG1 | 0.40022972 |
| 124 | TIE1 | 0.40020046 |
| 125 | PRKACB | 0.39510333 |
| 126 | CAMK2A | 0.38914155 |
| 127 | DAPK3 | 0.36940078 |
| 128 | FLT3 | 0.36630433 |
| 129 | DYRK1B | 0.36034629 |
| 130 | ADRBK1 | 0.35919522 |
| 131 | CAMK2G | 0.34772032 |
| 132 | NEK6 | 0.34261403 |
| 133 | CAMK2D | 0.33838520 |
| 134 | ILK | 0.32996527 |
| 135 | NLK | 0.32401124 |
| 136 | ROCK2 | 0.32130030 |
| 137 | MAP2K2 | 0.31032292 |
| 138 | MATK | 0.27994568 |
| 139 | IRAK2 | 0.27717242 |
| 140 | RPS6KB2 | 0.26855863 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Proteasome_Homo sapiens_hsa03050 | 4.51691466 |
| 2 | RNA polymerase_Homo sapiens_hsa03020 | 3.51753103 |
| 3 | Ribosome_Homo sapiens_hsa03010 | 3.35701468 |
| 4 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 3.12563960 |
| 5 | Parkinsons disease_Homo sapiens_hsa05012 | 2.95298741 |
| 6 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 2.93939612 |
| 7 | DNA replication_Homo sapiens_hsa03030 | 2.85732443 |
| 8 | Protein export_Homo sapiens_hsa03060 | 2.81841255 |
| 9 | Fatty acid elongation_Homo sapiens_hsa00062 | 2.66078966 |
| 10 | Mismatch repair_Homo sapiens_hsa03430 | 2.56005600 |
| 11 | Homologous recombination_Homo sapiens_hsa03440 | 2.41484846 |
| 12 | Basal transcription factors_Homo sapiens_hsa03022 | 2.40895087 |
| 13 | Huntingtons disease_Homo sapiens_hsa05016 | 2.38363037 |
| 14 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.29242951 |
| 15 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 2.19036017 |
| 16 | Spliceosome_Homo sapiens_hsa03040 | 2.14668571 |
| 17 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 2.04201692 |
| 18 | Nucleotide excision repair_Homo sapiens_hsa03420 | 2.02268377 |
| 19 | Alzheimers disease_Homo sapiens_hsa05010 | 1.89470087 |
| 20 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.87349755 |
| 21 | RNA transport_Homo sapiens_hsa03013 | 1.81351278 |
| 22 | Base excision repair_Homo sapiens_hsa03410 | 1.79089266 |
| 23 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.76583875 |
| 24 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.60864584 |
| 25 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.59299034 |
| 26 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.55141489 |
| 27 | Purine metabolism_Homo sapiens_hsa00230 | 1.49396554 |
| 28 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.39154590 |
| 29 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.31719301 |
| 30 | RNA degradation_Homo sapiens_hsa03018 | 1.29784065 |
| 31 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.27458055 |
| 32 | Cell cycle_Homo sapiens_hsa04110 | 1.27200068 |
| 33 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.25504352 |
| 34 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.23779461 |
| 35 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.23663573 |
| 36 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.20995040 |
| 37 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.19681813 |
| 38 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.19219984 |
| 39 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.18572539 |
| 40 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 1.13467165 |
| 41 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.13267340 |
| 42 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.12363733 |
| 43 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.11896180 |
| 44 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.10024162 |
| 45 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.03165190 |
| 46 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.01944814 |
| 47 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 1.01911553 |
| 48 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.95127996 |
| 49 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.93984987 |
| 50 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.91936571 |
| 51 | Sulfur relay system_Homo sapiens_hsa04122 | 0.91875475 |
| 52 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.91115618 |
| 53 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.87459921 |
| 54 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.86744231 |
| 55 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.84936819 |
| 56 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.81825590 |
| 57 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.81772583 |
| 58 | Metabolic pathways_Homo sapiens_hsa01100 | 0.80231374 |
| 59 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.79826544 |
| 60 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.75481034 |
| 61 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.75167065 |
| 62 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.73251810 |
| 63 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.71451343 |
| 64 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.71059458 |
| 65 | Nicotine addiction_Homo sapiens_hsa05033 | 0.67648767 |
| 66 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.65753909 |
| 67 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.63170089 |
| 68 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.63122659 |
| 69 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.62411282 |
| 70 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.59197716 |
| 71 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.55545696 |
| 72 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.55542779 |
| 73 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.52587983 |
| 74 | Carbon metabolism_Homo sapiens_hsa01200 | 0.52271559 |
| 75 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.51310490 |
| 76 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.50894536 |
| 77 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.50575939 |
| 78 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.49752063 |
| 79 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.48079140 |
| 80 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.47795290 |
| 81 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.47746094 |
| 82 | Allograft rejection_Homo sapiens_hsa05330 | 0.47561296 |
| 83 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.43473763 |
| 84 | Taste transduction_Homo sapiens_hsa04742 | 0.43067227 |
| 85 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.42794469 |
| 86 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.41106826 |
| 87 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.40537421 |
| 88 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.40232038 |
| 89 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.39713723 |
| 90 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.37680081 |
| 91 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.37430008 |
| 92 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.37122406 |
| 93 | Peroxisome_Homo sapiens_hsa04146 | 0.36969067 |
| 94 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.36840932 |
| 95 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.36503327 |
| 96 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.36331265 |
| 97 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.35210755 |
| 98 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.34356721 |
| 99 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.33092829 |
| 100 | Asthma_Homo sapiens_hsa05310 | 0.32950104 |
| 101 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.32132115 |
| 102 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.31732276 |
| 103 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.31628340 |
| 104 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.31146548 |
| 105 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.30592025 |
| 106 | Histidine metabolism_Homo sapiens_hsa00340 | 0.30541040 |
| 107 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.30491680 |
| 108 | Legionellosis_Homo sapiens_hsa05134 | 0.29032078 |
| 109 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.25844882 |
| 110 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.24540775 |
| 111 | Alcoholism_Homo sapiens_hsa05034 | 0.21705670 |
| 112 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.20955767 |
| 113 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.20584302 |
| 114 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.20418898 |
| 115 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.20218204 |
| 116 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.17867320 |
| 117 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.16232743 |
| 118 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.15862023 |
| 119 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.15666315 |
| 120 | Other glycan degradation_Homo sapiens_hsa00511 | 0.13208078 |
| 121 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.12435373 |
| 122 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.11729168 |
| 123 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.11687167 |
| 124 | Phagosome_Homo sapiens_hsa04145 | 0.10872578 |
| 125 | Retinol metabolism_Homo sapiens_hsa00830 | 0.07996860 |
| 126 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.06287793 |
| 127 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.05859789 |
| 128 | Phototransduction_Homo sapiens_hsa04744 | 0.04911092 |
| 129 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.04337764 |

