

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 6.55863500 |
| 2 | single strand break repair (GO:0000012) | 5.83490032 |
| 3 | protein targeting to Golgi (GO:0000042) | 5.80502962 |
| 4 | establishment of protein localization to Golgi (GO:0072600) | 5.77468157 |
| 5 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.66237539 |
| 6 | acrosome reaction (GO:0007340) | 5.65120546 |
| 7 | fusion of sperm to egg plasma membrane (GO:0007342) | 5.43280278 |
| 8 | chromosome condensation (GO:0030261) | 5.35269638 |
| 9 | response to pheromone (GO:0019236) | 5.34058254 |
| 10 | DNA packaging (GO:0006323) | 5.33801722 |
| 11 | spermatid development (GO:0007286) | 5.33163450 |
| 12 | sperm capacitation (GO:0048240) | 5.07609414 |
| 13 | seminiferous tubule development (GO:0072520) | 4.92427327 |
| 14 | regulation of cilium movement (GO:0003352) | 4.82294338 |
| 15 | multicellular organism reproduction (GO:0032504) | 4.78355599 |
| 16 | positive regulation of Rab GTPase activity (GO:0032851) | 4.74073790 |
| 17 | regulation of Rab GTPase activity (GO:0032313) | 4.74073790 |
| 18 | RNA destabilization (GO:0050779) | 4.58939419 |
| 19 | reproduction (GO:0000003) | 4.53235596 |
| 20 | sexual reproduction (GO:0019953) | 4.48934594 |
| 21 | response to peptidoglycan (GO:0032494) | 4.44288460 |
| 22 | cell wall macromolecule catabolic process (GO:0016998) | 4.23422201 |
| 23 | microtubule depolymerization (GO:0007019) | 4.20524473 |
| 24 | regulation of ARF GTPase activity (GO:0032312) | 4.19195924 |
| 25 | regulation of T-helper 2 cell differentiation (GO:0045628) | 4.16455966 |
| 26 | regulation of G0 to G1 transition (GO:0070316) | 4.06960204 |
| 27 | cell wall macromolecule metabolic process (GO:0044036) | 4.03290589 |
| 28 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 4.00410616 |
| 29 | centriole replication (GO:0007099) | 3.90733672 |
| 30 | protein localization to Golgi apparatus (GO:0034067) | 3.90215922 |
| 31 | plasma membrane fusion (GO:0045026) | 3.88857884 |
| 32 | protein polyglutamylation (GO:0018095) | 3.87954064 |
| 33 | spermatid nucleus differentiation (GO:0007289) | 3.87710599 |
| 34 | phosphatidylethanolamine metabolic process (GO:0046337) | 3.85403738 |
| 35 | histone lysine demethylation (GO:0070076) | 3.84651660 |
| 36 | histone demethylation (GO:0016577) | 3.83750353 |
| 37 | sperm-egg recognition (GO:0035036) | 3.82985155 |
| 38 | regulation of microtubule-based movement (GO:0060632) | 3.82875436 |
| 39 | brain morphogenesis (GO:0048854) | 3.82335066 |
| 40 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.73204030 |
| 41 | dendritic spine organization (GO:0097061) | 3.66468243 |
| 42 | left/right pattern formation (GO:0060972) | 3.66427482 |
| 43 | spermatogenesis (GO:0007283) | 3.65230987 |
| 44 | centriole assembly (GO:0098534) | 3.64137893 |
| 45 | auditory behavior (GO:0031223) | 3.63737602 |
| 46 | male gamete generation (GO:0048232) | 3.62764249 |
| 47 | axonemal dynein complex assembly (GO:0070286) | 3.61931729 |
| 48 | maintenance of gastrointestinal epithelium (GO:0030277) | 3.59803795 |
| 49 | chromatin silencing (GO:0006342) | 3.49806976 |
| 50 | calcium ion-dependent exocytosis (GO:0017156) | 3.44864430 |
| 51 | histone H3-K9 demethylation (GO:0033169) | 3.41538955 |
| 52 | regulation of female gonad development (GO:2000194) | 3.41308439 |
| 53 | protein dealkylation (GO:0008214) | 3.40187099 |
| 54 | protein demethylation (GO:0006482) | 3.40187099 |
| 55 | immunoglobulin mediated immune response (GO:0016064) | 3.39027951 |
| 56 | cell-cell recognition (GO:0009988) | 3.38960465 |
| 57 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.38947435 |
| 58 | peptide catabolic process (GO:0043171) | 3.34840293 |
| 59 | lipid translocation (GO:0034204) | 3.30869797 |
| 60 | phospholipid translocation (GO:0045332) | 3.30869797 |
| 61 | gamete generation (GO:0007276) | 3.29485581 |
| 62 | microtubule polymerization or depolymerization (GO:0031109) | 3.28639312 |
| 63 | microtubule severing (GO:0051013) | 3.26923807 |
| 64 | dendritic spine morphogenesis (GO:0060997) | 3.25673447 |
| 65 | mitochondrion transport along microtubule (GO:0047497) | 3.21945453 |
| 66 | establishment of mitochondrion localization, microtubule-mediated (GO:0034643) | 3.21945453 |
| 67 | mechanosensory behavior (GO:0007638) | 3.19239246 |
| 68 | germ cell development (GO:0007281) | 3.17715907 |
| 69 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.11430872 |
| 70 | single fertilization (GO:0007338) | 3.11276545 |
| 71 | binding of sperm to zona pellucida (GO:0007339) | 3.11111211 |
| 72 | negative regulation of granulocyte differentiation (GO:0030853) | 3.08902649 |
| 73 | response to auditory stimulus (GO:0010996) | 3.07358292 |
| 74 | neurotransmitter-gated ion channel clustering (GO:0072578) | 3.03571805 |
| 75 | thrombin receptor signaling pathway (GO:0070493) | 3.03165038 |
| 76 | epithelial cilium movement (GO:0003351) | 3.02476725 |
| 77 | response to vitamin A (GO:0033189) | 2.97942478 |
| 78 | positive regulation of type 2 immune response (GO:0002830) | 2.93727887 |
| 79 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 2.93027269 |
| 80 | coronary vasculature morphogenesis (GO:0060977) | 2.90940237 |
| 81 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.89575980 |
| 82 | positive regulation of T-helper cell differentiation (GO:0045624) | 2.86159552 |
| 83 | positive regulation of protein sumoylation (GO:0033235) | 2.85144916 |
| 84 | cellular extravasation (GO:0045123) | 2.84006434 |
| 85 | epithelial cell fate commitment (GO:0072148) | 2.82956696 |
| 86 | cell volume homeostasis (GO:0006884) | 2.80061337 |
| 87 | negative regulation of gene expression, epigenetic (GO:0045814) | 2.76370632 |
| 88 | positive regulation of excitatory postsynaptic membrane potential (GO:2000463) | 2.74294397 |
| 89 | regulation of myeloid leukocyte mediated immunity (GO:0002886) | 2.74129217 |
| 90 | L-fucose catabolic process (GO:0042355) | 2.71356276 |
| 91 | fucose catabolic process (GO:0019317) | 2.71356276 |
| 92 | L-fucose metabolic process (GO:0042354) | 2.71356276 |
| 93 | cranial nerve morphogenesis (GO:0021602) | 2.70277063 |
| 94 | protein-DNA complex disassembly (GO:0032986) | 2.69000391 |
| 95 | nucleosome disassembly (GO:0006337) | 2.69000391 |
| 96 | poly(A)+ mRNA export from nucleus (GO:0016973) | 2.66948399 |
| 97 | multicellular organismal reproductive process (GO:0048609) | 2.63573987 |
| 98 | detection of light stimulus involved in sensory perception (GO:0050962) | 2.63006904 |
| 99 | detection of light stimulus involved in visual perception (GO:0050908) | 2.63006904 |
| 100 | B cell mediated immunity (GO:0019724) | 2.59971847 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.35724758 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.04743911 |
| 3 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 2.81202022 |
| 4 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.55898047 |
| 5 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 2.43346373 |
| 6 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.37397728 |
| 7 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 2.37187529 |
| 8 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 2.35497690 |
| 9 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 2.20438940 |
| 10 | BCL6_27268052_Chip-Seq_Bcells_Human | 2.08976548 |
| 11 | P68_20966046_ChIP-Seq_HELA_Human | 2.06537824 |
| 12 | E2F1_20622854_ChIP-Seq_HELA_Human | 2.03393199 |
| 13 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.01873928 |
| 14 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 2.01175021 |
| 15 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.98150455 |
| 16 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.97565513 |
| 17 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.93768742 |
| 18 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.92876372 |
| 19 | VDR_21846776_ChIP-Seq_THP-1_Human | 1.90265954 |
| 20 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.90101801 |
| 21 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.87741443 |
| 22 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.83485085 |
| 23 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.83217142 |
| 24 | SCL_19346495_ChIP-Seq_HPC-7_Human | 1.80044864 |
| 25 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.77924524 |
| 26 | VDR_24763502_ChIP-Seq_THP-1_Human | 1.73307609 |
| 27 | VDR_24787735_ChIP-Seq_THP-1_Human | 1.71287702 |
| 28 | ERA_21632823_ChIP-Seq_H3396_Human | 1.70700290 |
| 29 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.68046483 |
| 30 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.67334916 |
| 31 | KDM2B_26808549_Chip-Seq_SUP-B15_Human | 1.62492872 |
| 32 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.62166368 |
| 33 | VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human | 1.61264526 |
| 34 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.60385366 |
| 35 | P300_27268052_Chip-Seq_Bcells_Human | 1.59021087 |
| 36 | E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human | 1.56023437 |
| 37 | GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.55782224 |
| 38 | MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 1.54311664 |
| 39 | SPI1_23127762_ChIP-Seq_K562_Human | 1.50675336 |
| 40 | NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human | 1.50107835 |
| 41 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.49024244 |
| 42 | OCT4_19829295_ChIP-Seq_ESCs_Human | 1.48198726 |
| 43 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.45862543 |
| 44 | GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.44850071 |
| 45 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.42820850 |
| 46 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.42291363 |
| 47 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.42291363 |
| 48 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.41982796 |
| 49 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.38387820 |
| 50 | GATA1_19941827_ChIP-Seq_MEL_Mouse | 1.37311148 |
| 51 | KDM2B_26808549_Chip-Seq_DND41_Human | 1.35726880 |
| 52 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.33331276 |
| 53 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.32281020 |
| 54 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.32140058 |
| 55 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.31637986 |
| 56 | SA1_27219007_Chip-Seq_Bcells_Human | 1.31245688 |
| 57 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.30976104 |
| 58 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.29311603 |
| 59 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.27954958 |
| 60 | RUNX1_20887958_ChIP-Seq_HPC-7_Mouse | 1.26994407 |
| 61 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.26711886 |
| 62 | TCF7_22412390_ChIP-Seq_EML_Mouse | 1.25651671 |
| 63 | MAF_26560356_Chip-Seq_TH2_Human | 1.24638567 |
| 64 | GATA3_27048872_Chip-Seq_THYMUS_Human | 1.23608602 |
| 65 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.22456518 |
| 66 | MAF_26560356_Chip-Seq_TH1_Human | 1.17918271 |
| 67 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.17128313 |
| 68 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.17119386 |
| 69 | KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 1.14390318 |
| 70 | GATA1_19941826_ChIP-Seq_K562_Human | 1.12762998 |
| 71 | KDM2B_26808549_Chip-Seq_JURKAT_Human | 1.12409292 |
| 72 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.10411580 |
| 73 | TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse | 1.09773375 |
| 74 | MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human | 1.09563494 |
| 75 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.08969250 |
| 76 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.08969250 |
| 77 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.08570240 |
| 78 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.07630823 |
| 79 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.07619946 |
| 80 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.06821796 |
| 81 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 1.05113033 |
| 82 | STAT1_20625510_ChIP-Seq_HELA_Human | 1.02946041 |
| 83 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.02418289 |
| 84 | MEIS1_20887958_ChIP-Seq_HPC-7_Mouse | 1.01812933 |
| 85 | IRF8_27001747_Chip-Seq_BMDM_Mouse | 1.01493452 |
| 86 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.01234672 |
| 87 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.00714980 |
| 88 | BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human | 1.00511782 |
| 89 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.00326980 |
| 90 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 0.96190664 |
| 91 | GATA3_26560356_Chip-Seq_TH1_Human | 0.96113598 |
| 92 | SMRT_27268052_Chip-Seq_Bcells_Human | 0.95631417 |
| 93 | CTCF_27219007_Chip-Seq_ERYTHROID_Human | 0.95409147 |
| 94 | LMO2_20887958_ChIP-Seq_HPC-7_Mouse | 0.95163399 |
| 95 | P53_21459846_ChIP-Seq_SAOS-2_Human | 0.94881842 |
| 96 | MYB_26560356_Chip-Seq_TH2_Human | 0.94756814 |
| 97 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.94636837 |
| 98 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.94054212 |
| 99 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 0.93378081 |
| 100 | MYB_26560356_Chip-Seq_TH1_Human | 0.93163113 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 7.17255278 |
| 2 | MP0009278_abnormal_bone_marrow | 3.69582653 |
| 3 | MP0000465_gastrointestinal_hemorrhage | 3.59659243 |
| 4 | MP0005451_abnormal_body_composition | 3.09702258 |
| 5 | MP0003172_abnormal_lysosome_physiology | 2.91736837 |
| 6 | MP0003698_abnormal_male_reproductive | 2.78607602 |
| 7 | MP0001929_abnormal_gametogenesis | 2.61527800 |
| 8 | MP0003436_decreased_susceptibility_to | 2.45896450 |
| 9 | MP0005377_hearing/vestibular/ear_phenot | 2.45626407 |
| 10 | MP0003878_abnormal_ear_physiology | 2.45626407 |
| 11 | MP0001835_abnormal_antigen_presentation | 2.38961159 |
| 12 | MP0001348_abnormal_lacrimal_gland | 2.37155833 |
| 13 | MP0001545_abnormal_hematopoietic_system | 2.18487826 |
| 14 | MP0005397_hematopoietic_system_phenotyp | 2.18487826 |
| 15 | MP0003718_maternal_effect | 2.03428453 |
| 16 | MP0005670_abnormal_white_adipose | 1.96109301 |
| 17 | MP0003123_paternal_imprinting | 1.94415403 |
| 18 | MP0009764_decreased_sensitivity_to | 1.82631737 |
| 19 | MP0001485_abnormal_pinna_reflex | 1.70656598 |
| 20 | MP0004043_abnormal_pH_regulation | 1.70392861 |
| 21 | MP0003879_abnormal_hair_cell | 1.67252025 |
| 22 | MP0003091_abnormal_cell_migration | 1.62635611 |
| 23 | MP0005464_abnormal_platelet_physiology | 1.60572658 |
| 24 | MP0009840_abnormal_foam_cell | 1.60103710 |
| 25 | MP0003283_abnormal_digestive_organ | 1.57545523 |
| 26 | MP0000678_abnormal_parathyroid_gland | 1.57440512 |
| 27 | MP0004084_abnormal_cardiac_muscle | 1.55879663 |
| 28 | MP0001765_abnormal_ion_homeostasis | 1.54816802 |
| 29 | MP0002161_abnormal_fertility/fecundity | 1.54378298 |
| 30 | MP0009115_abnormal_fat_cell | 1.54102683 |
| 31 | MP0002822_catalepsy | 1.53377052 |
| 32 | MP0001986_abnormal_taste_sensitivity | 1.50954689 |
| 33 | MP0002127_abnormal_cardiovascular_syste | 1.50365083 |
| 34 | MP0006292_abnormal_olfactory_placode | 1.47858877 |
| 35 | MP0004133_heterotaxia | 1.46808124 |
| 36 | MP0009697_abnormal_copulation | 1.45729268 |
| 37 | MP0005058_abnormal_lysosome_morphology | 1.40301461 |
| 38 | MP0008995_early_reproductive_senescence | 1.36290370 |
| 39 | MP0002132_abnormal_respiratory_system | 1.35144137 |
| 40 | MP0005647_abnormal_sex_gland | 1.33169789 |
| 41 | MP0002928_abnormal_bile_duct | 1.31847668 |
| 42 | MP0002148_abnormal_hypersensitivity_rea | 1.28402599 |
| 43 | MP0009785_altered_susceptibility_to | 1.25939121 |
| 44 | MP0000681_abnormal_thyroid_gland | 1.24578365 |
| 45 | MP0002419_abnormal_innate_immunity | 1.20745588 |
| 46 | MP0002733_abnormal_thermal_nociception | 1.20135001 |
| 47 | MP0005025_abnormal_response_to | 1.19862799 |
| 48 | MP0002210_abnormal_sex_determination | 1.15810182 |
| 49 | MP0005076_abnormal_cell_differentiation | 1.15049389 |
| 50 | MP0003329_amyloid_beta_deposits | 1.11545071 |
| 51 | MP0008004_abnormal_stomach_pH | 1.08120532 |
| 52 | MP0000604_amyloidosis | 1.05053875 |
| 53 | MP0002009_preneoplasia | 1.04505596 |
| 54 | MP0004808_abnormal_hematopoietic_stem | 1.01324947 |
| 55 | MP0005084_abnormal_gallbladder_morpholo | 0.97943801 |
| 56 | MP0003121_genomic_imprinting | 0.97544143 |
| 57 | MP0008007_abnormal_cellular_replicative | 0.96166905 |
| 58 | MP0004036_abnormal_muscle_relaxation | 0.94766417 |
| 59 | MP0010155_abnormal_intestine_physiology | 0.93718465 |
| 60 | MP0005394_taste/olfaction_phenotype | 0.92880057 |
| 61 | MP0005499_abnormal_olfactory_system | 0.92880057 |
| 62 | MP0005167_abnormal_blood-brain_barrier | 0.92654304 |
| 63 | MP0001145_abnormal_male_reproductive | 0.91423432 |
| 64 | MP0004782_abnormal_surfactant_physiolog | 0.90027196 |
| 65 | MP0005000_abnormal_immune_tolerance | 0.87934996 |
| 66 | MP0000653_abnormal_sex_gland | 0.87496397 |
| 67 | MP0002166_altered_tumor_susceptibility | 0.87429102 |
| 68 | MP0003075_altered_response_to | 0.86850895 |
| 69 | MP0005535_abnormal_body_temperature | 0.85111023 |
| 70 | MP0002452_abnormal_antigen_presenting | 0.84648283 |
| 71 | MP0001963_abnormal_hearing_physiology | 0.81203788 |
| 72 | MP0002723_abnormal_immune_serum | 0.81201904 |
| 73 | MP0008469_abnormal_protein_level | 0.78712261 |
| 74 | MP0005395_other_phenotype | 0.77831450 |
| 75 | MP0001501_abnormal_sleep_pattern | 0.75262093 |
| 76 | MP0001800_abnormal_humoral_immune | 0.74581591 |
| 77 | MP0003787_abnormal_imprinting | 0.73807837 |
| 78 | MP0003943_abnormal_hepatobiliary_system | 0.73619875 |
| 79 | MP0001666_abnormal_nutrient_absorption | 0.72034459 |
| 80 | MP0003866_abnormal_defecation | 0.71194311 |
| 81 | MP0002420_abnormal_adaptive_immunity | 0.70570291 |
| 82 | MP0003646_muscle_fatigue | 0.68989015 |
| 83 | MP0000470_abnormal_stomach_morphology | 0.68933226 |
| 84 | MP0003699_abnormal_female_reproductive | 0.67445500 |
| 85 | MP0001819_abnormal_immune_cell | 0.67303194 |
| 86 | MP0002722_abnormal_immune_system | 0.65723052 |
| 87 | MP0005379_endocrine/exocrine_gland_phen | 0.63945738 |
| 88 | MP0005220_abnormal_exocrine_pancreas | 0.63798560 |
| 89 | MP0001529_abnormal_vocalization | 0.63755439 |
| 90 | MP0008789_abnormal_olfactory_epithelium | 0.63422524 |
| 91 | MP0000313_abnormal_cell_death | 0.63209047 |
| 92 | MP0002398_abnormal_bone_marrow | 0.63185326 |
| 93 | MP0001533_abnormal_skeleton_physiology | 0.63018812 |
| 94 | MP0008961_abnormal_basal_metabolism | 0.62974006 |
| 95 | MP0002229_neurodegeneration | 0.62462449 |
| 96 | MP0010307_abnormal_tumor_latency | 0.60963583 |
| 97 | MP0001790_abnormal_immune_system | 0.60873266 |
| 98 | MP0005387_immune_system_phenotype | 0.60873266 |
| 99 | MP0005621_abnormal_cell_physiology | 0.58106226 |
| 100 | MP0003828_pulmonary_edema | 0.57857642 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Tubulointerstitial nephritis (HP:0001970) | 6.42462833 |
| 2 | Hyperkalemia (HP:0002153) | 4.98963222 |
| 3 | Severe visual impairment (HP:0001141) | 4.50116059 |
| 4 | Enlarged epiphyses (HP:0010580) | 3.99195376 |
| 5 | Male infertility (HP:0003251) | 3.71337737 |
| 6 | Protruding tongue (HP:0010808) | 3.64029003 |
| 7 | Impulsivity (HP:0100710) | 3.61260657 |
| 8 | Clumsiness (HP:0002312) | 3.19097421 |
| 9 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.18914268 |
| 10 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.12936931 |
| 11 | Absent speech (HP:0001344) | 3.12759387 |
| 12 | Attenuation of retinal blood vessels (HP:0007843) | 2.99555906 |
| 13 | Widely spaced teeth (HP:0000687) | 2.98649948 |
| 14 | Thin bony cortex (HP:0002753) | 2.90091364 |
| 15 | Cone-rod dystrophy (HP:0000548) | 2.89070955 |
| 16 | Palpebral edema (HP:0100540) | 2.82166375 |
| 17 | Elevated erythrocyte sedimentation rate (HP:0003565) | 2.79362819 |
| 18 | Hypophosphatemic rickets (HP:0004912) | 2.76186940 |
| 19 | Tubulointerstitial abnormality (HP:0001969) | 2.72511998 |
| 20 | Flat occiput (HP:0005469) | 2.67341836 |
| 21 | Truncal obesity (HP:0001956) | 2.58877229 |
| 22 | Asymmetric septal hypertrophy (HP:0001670) | 2.57474899 |
| 23 | Abnormality of the columella (HP:0009929) | 2.56917027 |
| 24 | Abnormality of the fingertips (HP:0001211) | 2.52400946 |
| 25 | Delayed CNS myelination (HP:0002188) | 2.46599266 |
| 26 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.41749641 |
| 27 | Pili torti (HP:0003777) | 2.41464521 |
| 28 | Stomatitis (HP:0010280) | 2.38818039 |
| 29 | Intestinal fistula (HP:0100819) | 2.38363528 |
| 30 | Abnormality of the costochondral junction (HP:0000919) | 2.37631484 |
| 31 | Stereotypic behavior (HP:0000733) | 2.36766116 |
| 32 | Abnormality of DNA repair (HP:0003254) | 2.33773705 |
| 33 | Increased cerebral lipofuscin (HP:0011813) | 2.30281718 |
| 34 | Delayed epiphyseal ossification (HP:0002663) | 2.29495466 |
| 35 | Intellectual disability, severe (HP:0010864) | 2.28125268 |
| 36 | Abnormality of macrophages (HP:0004311) | 2.26138080 |
| 37 | Increased neuronal autofluorescent lipopigment (HP:0002074) | 2.24084120 |
| 38 | Widely patent fontanelles and sutures (HP:0004492) | 2.21980426 |
| 39 | Gingival bleeding (HP:0000225) | 2.20200495 |
| 40 | Polycystic kidney dysplasia (HP:0000113) | 2.19960444 |
| 41 | Broad face (HP:0000283) | 2.19872291 |
| 42 | Abnormality of the periventricular white matter (HP:0002518) | 2.19357266 |
| 43 | Abnormality of the renal medulla (HP:0100957) | 2.18102153 |
| 44 | Prolonged bleeding time (HP:0003010) | 2.17994048 |
| 45 | Heterotopia (HP:0002282) | 2.17017766 |
| 46 | Retinal dysplasia (HP:0007973) | 2.16581412 |
| 47 | Intellectual disability, progressive (HP:0006887) | 2.12431413 |
| 48 | Primitive reflexes (palmomental, snout, glabellar) (HP:0002476) | 2.12171269 |
| 49 | Infertility (HP:0000789) | 2.11365012 |
| 50 | Thoracic kyphosis (HP:0002942) | 2.10789922 |
| 51 | Abnormality of the parathyroid morphology (HP:0011766) | 2.10508934 |
| 52 | Cellulitis (HP:0100658) | 2.06454141 |
| 53 | Gastrointestinal infarctions (HP:0005244) | 2.04224696 |
| 54 | Rectal fistula (HP:0100590) | 2.03942949 |
| 55 | Rectovaginal fistula (HP:0000143) | 2.03942949 |
| 56 | Hypoplastic ischia (HP:0003175) | 2.02847273 |
| 57 | Vacuolated lymphocytes (HP:0001922) | 2.02710214 |
| 58 | Periorbital edema (HP:0100539) | 2.02385461 |
| 59 | Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204) | 2.02313455 |
| 60 | Colitis (HP:0002583) | 2.02302492 |
| 61 | Myositis (HP:0100614) | 2.01952843 |
| 62 | Excessive salivation (HP:0003781) | 1.99169662 |
| 63 | Absent/shortened dynein arms (HP:0200106) | 1.98877249 |
| 64 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 1.98877249 |
| 65 | Drooling (HP:0002307) | 1.98678192 |
| 66 | Increased mean platelet volume (HP:0011877) | 1.95305827 |
| 67 | Facial edema (HP:0000282) | 1.93015259 |
| 68 | Progressive hearing impairment (HP:0001730) | 1.92927501 |
| 69 | Epiphyseal dysplasia (HP:0002656) | 1.90347547 |
| 70 | Abnormal ciliary motility (HP:0012262) | 1.89274310 |
| 71 | Intellectual disability, moderate (HP:0002342) | 1.88315237 |
| 72 | Long eyelashes (HP:0000527) | 1.87613872 |
| 73 | Abnormal platelet volume (HP:0011876) | 1.87360059 |
| 74 | Macroglossia (HP:0000158) | 1.85441658 |
| 75 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 1.84717911 |
| 76 | Facial shape deformation (HP:0011334) | 1.84421983 |
| 77 | Potter facies (HP:0002009) | 1.84421983 |
| 78 | Prolonged neonatal jaundice (HP:0006579) | 1.84412845 |
| 79 | Cortical visual impairment (HP:0100704) | 1.84067481 |
| 80 | Episodic fever (HP:0001954) | 1.83975624 |
| 81 | Abnormality of the aortic arch (HP:0012303) | 1.83702976 |
| 82 | Stage 5 chronic kidney disease (HP:0003774) | 1.83420273 |
| 83 | Chronic hepatic failure (HP:0100626) | 1.82517780 |
| 84 | Clubbing of toes (HP:0100760) | 1.82346761 |
| 85 | Polygenic inheritance (HP:0010982) | 1.81946893 |
| 86 | Abnormality of dental color (HP:0011073) | 1.81150137 |
| 87 | Broad-based gait (HP:0002136) | 1.79691034 |
| 88 | Recurrent cutaneous fungal infections (HP:0011370) | 1.79628674 |
| 89 | Chronic mucocutaneous candidiasis (HP:0002728) | 1.79628674 |
| 90 | Septate vagina (HP:0001153) | 1.78742639 |
| 91 | Abnormal hair laboratory examination (HP:0003328) | 1.78435843 |
| 92 | Bell-shaped thorax (HP:0001591) | 1.78311467 |
| 93 | Inappropriate behavior (HP:0000719) | 1.77834230 |
| 94 | Abnormality of potassium homeostasis (HP:0011042) | 1.77289867 |
| 95 | Anterior segment dysgenesis (HP:0007700) | 1.76608342 |
| 96 | Protuberant abdomen (HP:0001538) | 1.76117273 |
| 97 | Congenital hepatic fibrosis (HP:0002612) | 1.75691476 |
| 98 | Type II lissencephaly (HP:0007260) | 1.75282913 |
| 99 | Optic neuritis (HP:0100653) | 1.73500402 |
| 100 | Retrobulbar optic neuritis (HP:0100654) | 1.73500402 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | WNK4 | 4.56806373 |
| 2 | MST1R | 3.88105816 |
| 3 | PLK4 | 3.17426787 |
| 4 | CDK12 | 3.04918079 |
| 5 | DDR2 | 3.04266768 |
| 6 | WNK1 | 2.69698105 |
| 7 | TESK1 | 2.25954226 |
| 8 | NEK2 | 2.25452355 |
| 9 | PRKD3 | 2.09784961 |
| 10 | MET | 2.06515760 |
| 11 | MAP3K11 | 2.04316969 |
| 12 | MAP3K13 | 1.98754601 |
| 13 | FLT3 | 1.89050628 |
| 14 | FRK | 1.87756623 |
| 15 | CAMK1G | 1.82393227 |
| 16 | SIK2 | 1.79399478 |
| 17 | MARK2 | 1.77974996 |
| 18 | MAPK15 | 1.69961753 |
| 19 | BLK | 1.56905046 |
| 20 | KIT | 1.51720498 |
| 21 | BRD4 | 1.47659415 |
| 22 | PTK2B | 1.41478883 |
| 23 | STK38 | 1.40802293 |
| 24 | PDPK1 | 1.24465984 |
| 25 | PIK3CG | 1.17851149 |
| 26 | RPS6KA2 | 1.16694072 |
| 27 | CASK | 1.13510913 |
| 28 | MARK1 | 1.12725996 |
| 29 | CAMK1D | 1.12588964 |
| 30 | PNCK | 1.11033286 |
| 31 | PDK1 | 1.10573614 |
| 32 | INSRR | 1.09411066 |
| 33 | ERN1 | 1.05783228 |
| 34 | CSF1R | 1.03960764 |
| 35 | NME1 | 1.02294663 |
| 36 | CLK1 | 1.00053941 |
| 37 | CDK7 | 0.95542339 |
| 38 | MTOR | 0.94716466 |
| 39 | TAOK3 | 0.94159207 |
| 40 | PINK1 | 0.93464604 |
| 41 | RPS6KA4 | 0.92734143 |
| 42 | CHUK | 0.92502287 |
| 43 | MAP3K7 | 0.92408240 |
| 44 | CDK3 | 0.92139949 |
| 45 | IRAK3 | 0.90927092 |
| 46 | ADRBK2 | 0.88278680 |
| 47 | TBK1 | 0.82184180 |
| 48 | EEF2K | 0.77017605 |
| 49 | DYRK1B | 0.76677697 |
| 50 | MAP3K8 | 0.75941160 |
| 51 | MAP3K14 | 0.75659331 |
| 52 | RPS6KC1 | 0.75284884 |
| 53 | RPS6KL1 | 0.75284884 |
| 54 | MAPK11 | 0.74523246 |
| 55 | CDK4 | 0.74523061 |
| 56 | SYK | 0.72047794 |
| 57 | PRKAA2 | 0.69852134 |
| 58 | PRKAA1 | 0.68435989 |
| 59 | RPS6KA6 | 0.67615403 |
| 60 | PRKG2 | 0.66692062 |
| 61 | PRKG1 | 0.64988845 |
| 62 | MAPK1 | 0.62220387 |
| 63 | IKBKB | 0.60542338 |
| 64 | BRAF | 0.58789485 |
| 65 | CDK2 | 0.56923858 |
| 66 | STK38L | 0.56459881 |
| 67 | RIPK4 | 0.56313200 |
| 68 | PRPF4B | 0.55166063 |
| 69 | UHMK1 | 0.54067683 |
| 70 | MAP4K1 | 0.53436206 |
| 71 | PHKG2 | 0.52892198 |
| 72 | PHKG1 | 0.52892198 |
| 73 | CAMKK2 | 0.51681683 |
| 74 | SGK1 | 0.51197988 |
| 75 | CCNB1 | 0.50936168 |
| 76 | KDR | 0.50914755 |
| 77 | CDK8 | 0.50025608 |
| 78 | JAK3 | 0.48667030 |
| 79 | ICK | 0.45621938 |
| 80 | RPS6KA1 | 0.45485329 |
| 81 | ZAP70 | 0.43842921 |
| 82 | ERBB2 | 0.43797049 |
| 83 | RIPK1 | 0.43525406 |
| 84 | PRKCZ | 0.42951438 |
| 85 | MAPK13 | 0.41182038 |
| 86 | PLK2 | 0.41098810 |
| 87 | MAP3K1 | 0.40930312 |
| 88 | GSK3B | 0.40782663 |
| 89 | TESK2 | 0.39945814 |
| 90 | BTK | 0.39937537 |
| 91 | CAMK1 | 0.39721361 |
| 92 | CDK1 | 0.38535533 |
| 93 | MAPK8 | 0.38303119 |
| 94 | LYN | 0.37840422 |
| 95 | MAP4K2 | 0.37609981 |
| 96 | IRAK2 | 0.37312112 |
| 97 | TEC | 0.37069476 |
| 98 | PRKCQ | 0.36884156 |
| 99 | MAP2K6 | 0.36353913 |
| 100 | MAPK10 | 0.36060115 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.23910825 |
| 2 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 2.91483747 |
| 3 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.27949970 |
| 4 | Other glycan degradation_Homo sapiens_hsa00511 | 2.06799977 |
| 5 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 2.05236700 |
| 6 | Allograft rejection_Homo sapiens_hsa05330 | 1.91242037 |
| 7 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.79502145 |
| 8 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.74710604 |
| 9 | Olfactory transduction_Homo sapiens_hsa04740 | 1.74122482 |
| 10 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.72129413 |
| 11 | Leishmaniasis_Homo sapiens_hsa05140 | 1.71219555 |
| 12 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.69538258 |
| 13 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 1.67536464 |
| 14 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.62156081 |
| 15 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.56779141 |
| 16 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.56275218 |
| 17 | Asthma_Homo sapiens_hsa05310 | 1.51561215 |
| 18 | Influenza A_Homo sapiens_hsa05164 | 1.45653608 |
| 19 | mTOR signaling pathway_Homo sapiens_hsa04150 | 1.43813074 |
| 20 | Platelet activation_Homo sapiens_hsa04611 | 1.41641824 |
| 21 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.40199609 |
| 22 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 1.38734601 |
| 23 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 1.36483450 |
| 24 | Osteoclast differentiation_Homo sapiens_hsa04380 | 1.27456374 |
| 25 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.25048103 |
| 26 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.24900160 |
| 27 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 1.21830201 |
| 28 | Salivary secretion_Homo sapiens_hsa04970 | 1.19116939 |
| 29 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 1.17463873 |
| 30 | Viral myocarditis_Homo sapiens_hsa05416 | 1.16654874 |
| 31 | African trypanosomiasis_Homo sapiens_hsa05143 | 1.15913643 |
| 32 | Notch signaling pathway_Homo sapiens_hsa04330 | 1.14878229 |
| 33 | Tuberculosis_Homo sapiens_hsa05152 | 1.14358980 |
| 34 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 1.13484372 |
| 35 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 1.09940283 |
| 36 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.09778395 |
| 37 | Herpes simplex infection_Homo sapiens_hsa05168 | 1.06915011 |
| 38 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.06719279 |
| 39 | Legionellosis_Homo sapiens_hsa05134 | 1.06643878 |
| 40 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 1.05969095 |
| 41 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 1.04308576 |
| 42 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.04268799 |
| 43 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 1.03620260 |
| 44 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 1.02799404 |
| 45 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.00959135 |
| 46 | Toxoplasmosis_Homo sapiens_hsa05145 | 1.00631133 |
| 47 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.97571985 |
| 48 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.96334419 |
| 49 | Insulin resistance_Homo sapiens_hsa04931 | 0.95858265 |
| 50 | ABC transporters_Homo sapiens_hsa02010 | 0.95013115 |
| 51 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.89803849 |
| 52 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.89656538 |
| 53 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.87682820 |
| 54 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.86974954 |
| 55 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.84671264 |
| 56 | Lysosome_Homo sapiens_hsa04142 | 0.82488919 |
| 57 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.80499623 |
| 58 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.79926221 |
| 59 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.77905943 |
| 60 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.77737165 |
| 61 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.77571414 |
| 62 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.71747165 |
| 63 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.70831411 |
| 64 | Lysine degradation_Homo sapiens_hsa00310 | 0.67669018 |
| 65 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.67589254 |
| 66 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.67476854 |
| 67 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.66744395 |
| 68 | Amoebiasis_Homo sapiens_hsa05146 | 0.66608691 |
| 69 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.66431451 |
| 70 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.65264474 |
| 71 | Pertussis_Homo sapiens_hsa05133 | 0.65225724 |
| 72 | Measles_Homo sapiens_hsa05162 | 0.64240402 |
| 73 | Hepatitis B_Homo sapiens_hsa05161 | 0.63323168 |
| 74 | Malaria_Homo sapiens_hsa05144 | 0.62522198 |
| 75 | Phototransduction_Homo sapiens_hsa04744 | 0.61782995 |
| 76 | Endocytosis_Homo sapiens_hsa04144 | 0.61314438 |
| 77 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.61073833 |
| 78 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.58614088 |
| 79 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.58007616 |
| 80 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.56146677 |
| 81 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.54109132 |
| 82 | Taste transduction_Homo sapiens_hsa04742 | 0.54065826 |
| 83 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.52630883 |
| 84 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.52276130 |
| 85 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.50644391 |
| 86 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.50310260 |
| 87 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.49681055 |
| 88 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.47032072 |
| 89 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.45805110 |
| 90 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.44925158 |
| 91 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.44682803 |
| 92 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.44630610 |
| 93 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.42421132 |
| 94 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.42418685 |
| 95 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.42084241 |
| 96 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.41724010 |
| 97 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.41136521 |
| 98 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.40973581 |
| 99 | Insulin secretion_Homo sapiens_hsa04911 | 0.40564260 |
| 100 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.38928457 |

