

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.25257762 |
| 2 | DNA packaging (GO:0006323) | 8.81904432 |
| 3 | rRNA methylation (GO:0031167) | 8.75737107 |
| 4 | single strand break repair (GO:0000012) | 8.48017096 |
| 5 | microtubule depolymerization (GO:0007019) | 8.20600090 |
| 6 | sperm capacitation (GO:0048240) | 7.73817759 |
| 7 | plasma membrane fusion (GO:0045026) | 7.66145205 |
| 8 | spermatid development (GO:0007286) | 7.59949124 |
| 9 | rRNA modification (GO:0000154) | 7.59243891 |
| 10 | microtubule polymerization or depolymerization (GO:0031109) | 7.04513261 |
| 11 | sperm-egg recognition (GO:0035036) | 6.99051328 |
| 12 | protein targeting to Golgi (GO:0000042) | 6.91677156 |
| 13 | centriole replication (GO:0007099) | 6.72538243 |
| 14 | protein polyglutamylation (GO:0018095) | 6.72525304 |
| 15 | binding of sperm to zona pellucida (GO:0007339) | 6.71062677 |
| 16 | establishment of protein localization to Golgi (GO:0072600) | 6.58954290 |
| 17 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.34744513 |
| 18 | spermatid nucleus differentiation (GO:0007289) | 6.19933442 |
| 19 | response to pheromone (GO:0019236) | 6.09840974 |
| 20 | spermatogenesis (GO:0007283) | 6.07243878 |
| 21 | male gamete generation (GO:0048232) | 6.05339140 |
| 22 | multicellular organism reproduction (GO:0032504) | 6.01003167 |
| 23 | centriole assembly (GO:0098534) | 5.70432894 |
| 24 | regulation of centriole replication (GO:0046599) | 5.69162126 |
| 25 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.68062921 |
| 26 | cell-cell recognition (GO:0009988) | 5.66080856 |
| 27 | gamete generation (GO:0007276) | 5.59918314 |
| 28 | axonemal dynein complex assembly (GO:0070286) | 5.56376035 |
| 29 | reproduction (GO:0000003) | 5.55226115 |
| 30 | microtubule severing (GO:0051013) | 5.34342053 |
| 31 | calcium ion-dependent exocytosis (GO:0017156) | 5.25561214 |
| 32 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.24998422 |
| 33 | sexual reproduction (GO:0019953) | 5.13786560 |
| 34 | negative regulation of inclusion body assembly (GO:0090084) | 4.97165954 |
| 35 | protein localization to Golgi apparatus (GO:0034067) | 4.94026481 |
| 36 | regulation of cilium movement (GO:0003352) | 4.64477188 |
| 37 | motile cilium assembly (GO:0044458) | 4.59933976 |
| 38 | single fertilization (GO:0007338) | 4.59622229 |
| 39 | polyamine biosynthetic process (GO:0006596) | 4.54212505 |
| 40 | germ cell development (GO:0007281) | 4.47473512 |
| 41 | multicellular organismal reproductive process (GO:0048609) | 4.44753143 |
| 42 | cell wall macromolecule catabolic process (GO:0016998) | 4.34860633 |
| 43 | multicellular organismal movement (GO:0050879) | 4.29361746 |
| 44 | musculoskeletal movement (GO:0050881) | 4.29361746 |
| 45 | seminiferous tubule development (GO:0072520) | 4.22216100 |
| 46 | nuclear pore complex assembly (GO:0051292) | 4.20104472 |
| 47 | glomerular visceral epithelial cell development (GO:0072015) | 4.20005317 |
| 48 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.14976310 |
| 49 | RNA destabilization (GO:0050779) | 4.14357052 |
| 50 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.14277621 |
| 51 | chromatin silencing (GO:0006342) | 4.05442883 |
| 52 | cellular ketone body metabolic process (GO:0046950) | 4.00589729 |
| 53 | cell wall macromolecule metabolic process (GO:0044036) | 3.99135563 |
| 54 | nucleus organization (GO:0006997) | 3.92446559 |
| 55 | glomerular epithelial cell development (GO:0072310) | 3.90875194 |
| 56 | regulation of inclusion body assembly (GO:0090083) | 3.89514702 |
| 57 | fertilization (GO:0009566) | 3.87996156 |
| 58 | epithelial cilium movement (GO:0003351) | 3.85213427 |
| 59 | regulation of Rab GTPase activity (GO:0032313) | 3.77604513 |
| 60 | positive regulation of Rab GTPase activity (GO:0032851) | 3.77604513 |
| 61 | glycerol ether metabolic process (GO:0006662) | 3.69855822 |
| 62 | histone exchange (GO:0043486) | 3.59775732 |
| 63 | ketone body metabolic process (GO:1902224) | 3.50613589 |
| 64 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.41818589 |
| 65 | ether metabolic process (GO:0018904) | 3.37904707 |
| 66 | organic cation transport (GO:0015695) | 3.34723773 |
| 67 | response to acidic pH (GO:0010447) | 3.31328631 |
| 68 | nuclear pore organization (GO:0006999) | 3.26942981 |
| 69 | cilium movement (GO:0003341) | 3.25406992 |
| 70 | pore complex assembly (GO:0046931) | 3.24257527 |
| 71 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.22186338 |
| 72 | microtubule nucleation (GO:0007020) | 3.21849988 |
| 73 | DNA conformation change (GO:0071103) | 3.19348182 |
| 74 | RNA methylation (GO:0001510) | 3.16146037 |
| 75 | homeostasis of number of cells within a tissue (GO:0048873) | 3.13537710 |
| 76 | tRNA methylation (GO:0030488) | 3.11820624 |
| 77 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.98460094 |
| 78 | regulation of centrosome duplication (GO:0010824) | 2.95630460 |
| 79 | L-alpha-amino acid transmembrane transport (GO:1902475) | 2.92963720 |
| 80 | mitochondrial fission (GO:0000266) | 2.91084298 |
| 81 | centrosome duplication (GO:0051298) | 2.87973049 |
| 82 | regulation of microtubule-based movement (GO:0060632) | 2.87576544 |
| 83 | cellular biogenic amine biosynthetic process (GO:0042401) | 2.86746695 |
| 84 | cerebral cortex neuron differentiation (GO:0021895) | 2.79933165 |
| 85 | chaperone-mediated protein complex assembly (GO:0051131) | 2.78182291 |
| 86 | protein depolymerization (GO:0051261) | 2.76047008 |
| 87 | regulation of chromosome segregation (GO:0051983) | 2.74611439 |
| 88 | resolution of meiotic recombination intermediates (GO:0000712) | 2.74167293 |
| 89 | histone mRNA catabolic process (GO:0071044) | 2.72772412 |
| 90 | mitotic G1 DNA damage checkpoint (GO:0031571) | 2.71681693 |
| 91 | regulation of guanylate cyclase activity (GO:0031282) | 2.68606550 |
| 92 | cellular response to pH (GO:0071467) | 2.67492072 |
| 93 | multicellular organismal development (GO:0007275) | 2.65759705 |
| 94 | amine biosynthetic process (GO:0009309) | 2.65683262 |
| 95 | cell recognition (GO:0008037) | 2.61382433 |
| 96 | protein K48-linked deubiquitination (GO:0071108) | 2.61357937 |
| 97 | RNA localization (GO:0006403) | 2.60382734 |
| 98 | sperm motility (GO:0030317) | 11.0647977 |
| 99 | acrosome reaction (GO:0007340) | 10.3982308 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.2316468 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 6.27889726 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.34968695 |
| 3 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 3.91763925 |
| 4 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.48326940 |
| 5 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.32294455 |
| 6 | FUS_26573619_Chip-Seq_HEK293_Human | 2.54015909 |
| 7 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.52105366 |
| 8 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.52105366 |
| 9 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.50615207 |
| 10 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.50615207 |
| 11 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.38753735 |
| 12 | E2F7_22180533_ChIP-Seq_HELA_Human | 2.04661710 |
| 13 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 2.02194749 |
| 14 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.99720257 |
| 15 | * CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.99549098 |
| 16 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.96418303 |
| 17 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.93756457 |
| 18 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.92084963 |
| 19 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.84951963 |
| 20 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.83269577 |
| 21 | ERA_21632823_ChIP-Seq_H3396_Human | 1.77772919 |
| 22 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.77619912 |
| 23 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.76845454 |
| 24 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.76075278 |
| 25 | * SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.74364771 |
| 26 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.74190990 |
| 27 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.72149168 |
| 28 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.71956171 |
| 29 | P300_19829295_ChIP-Seq_ESCs_Human | 1.71455005 |
| 30 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.70628339 |
| 31 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.70500126 |
| 32 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.68422888 |
| 33 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.66958123 |
| 34 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.66242889 |
| 35 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.65684411 |
| 36 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.65408985 |
| 37 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.64463666 |
| 38 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.64438814 |
| 39 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.63977761 |
| 40 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.62355103 |
| 41 | * CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.55558319 |
| 42 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.55266490 |
| 43 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.51720357 |
| 44 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.51076866 |
| 45 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 1.49404247 |
| 46 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.45010229 |
| 47 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.43759483 |
| 48 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.43759483 |
| 49 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.43135081 |
| 50 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.42252848 |
| 51 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.41530065 |
| 52 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.41521513 |
| 53 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.40386607 |
| 54 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.39354696 |
| 55 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.39159145 |
| 56 | NFYB_21822215_ChIP-Seq_K562_Human | 1.38637515 |
| 57 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.33622041 |
| 58 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.32887632 |
| 59 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.30725991 |
| 60 | TBL1_22424771_ChIP-Seq_293T_Human | 1.28290575 |
| 61 | AR_25329375_ChIP-Seq_VCAP_Human | 1.27697298 |
| 62 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.26765435 |
| 63 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.26108668 |
| 64 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.25140442 |
| 65 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.25013007 |
| 66 | VDR_22108803_ChIP-Seq_LS180_Human | 1.23532411 |
| 67 | NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human | 1.21733200 |
| 68 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.21698427 |
| 69 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.21489688 |
| 70 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.21369966 |
| 71 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.21034985 |
| 72 | * SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.20648263 |
| 73 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.19848338 |
| 74 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.19834336 |
| 75 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.19240840 |
| 76 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.19025970 |
| 77 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.17209513 |
| 78 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.16988992 |
| 79 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.15389212 |
| 80 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.14796849 |
| 81 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.13335729 |
| 82 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.11343682 |
| 83 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.10805554 |
| 84 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.10755778 |
| 85 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.10529544 |
| 86 | CBP_21632823_ChIP-Seq_H3396_Human | 1.10125026 |
| 87 | NFYA_21822215_ChIP-Seq_K562_Human | 1.10096446 |
| 88 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.08738328 |
| 89 | P300_27268052_Chip-Seq_Bcells_Human | 1.07694538 |
| 90 | * FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.06546550 |
| 91 | * E2F1_20622854_ChIP-Seq_HELA_Human | 1.06491272 |
| 92 | KDM2B_26808549_Chip-Seq_REH_Human | 1.04720270 |
| 93 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.04094415 |
| 94 | VDR_24787735_ChIP-Seq_THP-1_Human | 1.03409824 |
| 95 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.02999949 |
| 96 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.02896217 |
| 97 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.02723178 |
| 98 | * BCOR_27268052_Chip-Seq_Bcells_Human | 1.02152656 |
| 99 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.01756815 |
| 100 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.01654627 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005670_abnormal_white_adipose | 5.14085162 |
| 2 | MP0002822_catalepsy | 5.02092387 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 4.64237205 |
| 4 | MP0003878_abnormal_ear_physiology | 4.64237205 |
| 5 | MP0003698_abnormal_male_reproductive | 3.69744244 |
| 6 | MP0002653_abnormal_ependyma_morphology | 3.58758870 |
| 7 | MP0001929_abnormal_gametogenesis | 3.44781637 |
| 8 | MP0003718_maternal_effect | 3.43167905 |
| 9 | MP0003011_delayed_dark_adaptation | 3.19385156 |
| 10 | MP0003941_abnormal_skin_development | 2.75559956 |
| 11 | MP0002161_abnormal_fertility/fecundity | 2.09216453 |
| 12 | MP0001485_abnormal_pinna_reflex | 2.01034849 |
| 13 | MP0005410_abnormal_fertilization | 10.2888412 |
| 14 | MP0003646_muscle_fatigue | 1.92289485 |
| 15 | MP0009840_abnormal_foam_cell | 1.81006059 |
| 16 | MP0009697_abnormal_copulation | 1.78288360 |
| 17 | MP0001348_abnormal_lacrimal_gland | 1.73952420 |
| 18 | MP0003077_abnormal_cell_cycle | 1.69614793 |
| 19 | MP0002132_abnormal_respiratory_system | 1.65655958 |
| 20 | MP0002210_abnormal_sex_determination | 1.65250326 |
| 21 | MP0005310_abnormal_salivary_gland | 1.57158566 |
| 22 | MP0010307_abnormal_tumor_latency | 1.54411706 |
| 23 | MP0000678_abnormal_parathyroid_gland | 1.52119727 |
| 24 | MP0004957_abnormal_blastocyst_morpholog | 1.49258103 |
| 25 | MP0005379_endocrine/exocrine_gland_phen | 1.48163410 |
| 26 | MP0002735_abnormal_chemical_nociception | 1.42769201 |
| 27 | MP0005451_abnormal_body_composition | 1.39248290 |
| 28 | MP0001145_abnormal_male_reproductive | 1.36274512 |
| 29 | MP0004233_abnormal_muscle_weight | 1.33991442 |
| 30 | MP0005395_other_phenotype | 1.30965893 |
| 31 | MP0002282_abnormal_trachea_morphology | 1.29290326 |
| 32 | MP0003693_abnormal_embryo_hatching | 1.28143645 |
| 33 | MP0008877_abnormal_DNA_methylation | 1.27883779 |
| 34 | MP0005248_abnormal_Harderian_gland | 1.25102418 |
| 35 | MP0000653_abnormal_sex_gland | 1.21108032 |
| 36 | MP0004742_abnormal_vestibular_system | 1.08872594 |
| 37 | MP0009115_abnormal_fat_cell | 1.06970081 |
| 38 | MP0001963_abnormal_hearing_physiology | 1.04188518 |
| 39 | MP0010094_abnormal_chromosome_stability | 1.02324061 |
| 40 | MP0003172_abnormal_lysosome_physiology | 0.99680584 |
| 41 | MP0001486_abnormal_startle_reflex | 0.99461395 |
| 42 | MP0002229_neurodegeneration | 0.96951388 |
| 43 | MP0002269_muscular_atrophy | 0.96260168 |
| 44 | MP0005666_abnormal_adipose_tissue | 0.95096379 |
| 45 | MP0005167_abnormal_blood-brain_barrier | 0.94889029 |
| 46 | MP0002090_abnormal_vision | 0.94148026 |
| 47 | MP0003879_abnormal_hair_cell | 0.91521442 |
| 48 | MP0005253_abnormal_eye_physiology | 0.90600027 |
| 49 | MP0001968_abnormal_touch/_nociception | 0.87913069 |
| 50 | MP0003828_pulmonary_edema | 0.85795843 |
| 51 | MP0004510_myositis | 0.84372145 |
| 52 | MP0002127_abnormal_cardiovascular_syste | 0.82234088 |
| 53 | MP0008007_abnormal_cellular_replicative | 0.80155775 |
| 54 | MP0000534_abnormal_ureter_morphology | 0.79792809 |
| 55 | MP0005083_abnormal_biliary_tract | 0.76445426 |
| 56 | MP0000026_abnormal_inner_ear | 0.76405120 |
| 57 | MP0005551_abnormal_eye_electrophysiolog | 0.73308114 |
| 58 | MP0009053_abnormal_anal_canal | 0.73209146 |
| 59 | MP0002736_abnormal_nociception_after | 0.68685182 |
| 60 | MP0008569_lethality_at_weaning | 0.63456123 |
| 61 | MP0000516_abnormal_urinary_system | 0.62366809 |
| 62 | MP0005367_renal/urinary_system_phenotyp | 0.62366809 |
| 63 | MP0002138_abnormal_hepatobiliary_system | 0.59986704 |
| 64 | MP0006292_abnormal_olfactory_placode | 0.59596945 |
| 65 | MP0003137_abnormal_impulse_conducting | 0.58749501 |
| 66 | MP0009278_abnormal_bone_marrow | 0.56357712 |
| 67 | MP0002249_abnormal_larynx_morphology | 0.55782069 |
| 68 | MP0001984_abnormal_olfaction | 0.55546145 |
| 69 | MP0004019_abnormal_vitamin_homeostasis | 0.53443647 |
| 70 | MP0003632_abnormal_nervous_system | 0.52979539 |
| 71 | MP0005332_abnormal_amino_acid | 0.51781430 |
| 72 | MP0000604_amyloidosis | 0.51682395 |
| 73 | MP0005058_abnormal_lysosome_morphology | 0.50301215 |
| 74 | MP0005408_hypopigmentation | 0.50107075 |
| 75 | MP0008961_abnormal_basal_metabolism | 0.49706072 |
| 76 | MP0003111_abnormal_nucleus_morphology | 0.48984123 |
| 77 | MP0005164_abnormal_response_to | 0.48512441 |
| 78 | MP0008770_decreased_survivor_rate | 0.48496121 |
| 79 | MP0001666_abnormal_nutrient_absorption | 0.47782088 |
| 80 | MP0000955_abnormal_spinal_cord | 0.47435859 |
| 81 | MP0000313_abnormal_cell_death | 0.47350397 |
| 82 | MP0001293_anophthalmia | 0.46085161 |
| 83 | MP0001545_abnormal_hematopoietic_system | 0.45957382 |
| 84 | MP0005397_hematopoietic_system_phenotyp | 0.45957382 |
| 85 | MP0002102_abnormal_ear_morphology | 0.45904363 |
| 86 | MP0001765_abnormal_ion_homeostasis | 0.45272469 |
| 87 | MP0009765_abnormal_xenobiotic_induced | 0.45044711 |
| 88 | MP0002254_reproductive_system_inflammat | 0.44813428 |
| 89 | MP0005391_vision/eye_phenotype | 0.43923518 |
| 90 | MP0003631_nervous_system_phenotype | 0.41340835 |
| 91 | MP0002067_abnormal_sensory_capabilities | 0.40200905 |
| 92 | MP0005595_abnormal_vascular_smooth | 0.40097821 |
| 93 | MP0002733_abnormal_thermal_nociception | 0.39950443 |
| 94 | MP0008057_abnormal_DNA_replication | 0.39701845 |
| 95 | MP0004085_abnormal_heartbeat | 0.39664968 |
| 96 | MP0008058_abnormal_DNA_repair | 0.38784162 |
| 97 | MP0002234_abnormal_pharynx_morphology | 0.37360405 |
| 98 | MP0001286_abnormal_eye_development | 0.37331406 |
| 99 | MP0008932_abnormal_embryonic_tissue | 0.37233500 |
| 100 | MP0000343_altered_response_to | 0.37034467 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Chronic hepatic failure (HP:0100626) | 7.03477211 |
| 2 | Severe visual impairment (HP:0001141) | 6.74788247 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.58506415 |
| 4 | Absent/shortened dynein arms (HP:0200106) | 5.58506415 |
| 5 | Tubulointerstitial nephritis (HP:0001970) | 5.35486707 |
| 6 | Asymmetric septal hypertrophy (HP:0001670) | 4.86661524 |
| 7 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.20496741 |
| 8 | Attenuation of retinal blood vessels (HP:0007843) | 4.09057460 |
| 9 | Cone-rod dystrophy (HP:0000548) | 4.08899485 |
| 10 | Abnormal ciliary motility (HP:0012262) | 4.06564473 |
| 11 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.95007722 |
| 12 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.93605952 |
| 13 | Abnormality of macular pigmentation (HP:0008002) | 3.87648354 |
| 14 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.85258105 |
| 15 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.70666531 |
| 16 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.70666531 |
| 17 | Hyperkalemia (HP:0002153) | 3.62433804 |
| 18 | Resting tremor (HP:0002322) | 3.60666211 |
| 19 | Male infertility (HP:0003251) | 3.56649379 |
| 20 | Progressive sensorineural hearing impairment (HP:0000408) | 3.53260487 |
| 21 | Nasal polyposis (HP:0100582) | 3.52537198 |
| 22 | Hypoalphalipoproteinemia (HP:0003233) | 3.50257561 |
| 23 | Impulsivity (HP:0100710) | 3.49591269 |
| 24 | Abnormal spermatogenesis (HP:0008669) | 3.25765977 |
| 25 | Agnosia (HP:0010524) | 3.21096096 |
| 26 | Rhabdomyosarcoma (HP:0002859) | 3.20439829 |
| 27 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 3.11951879 |
| 28 | Azoospermia (HP:0000027) | 3.08148916 |
| 29 | Abnormality of the nasal mucosa (HP:0000433) | 3.06084941 |
| 30 | Infertility (HP:0000789) | 3.05600550 |
| 31 | Hypoplasia of the thymus (HP:0000778) | 2.85889761 |
| 32 | Renal Fanconi syndrome (HP:0001994) | 2.74091486 |
| 33 | Subcapsular cataract (HP:0000523) | 2.72974449 |
| 34 | Duodenal stenosis (HP:0100867) | 2.66776099 |
| 35 | Small intestinal stenosis (HP:0012848) | 2.66776099 |
| 36 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.63634268 |
| 37 | Neoplasm of striated muscle (HP:0009728) | 2.63546310 |
| 38 | Multiple enchondromatosis (HP:0005701) | 2.61594878 |
| 39 | Chronic bronchitis (HP:0004469) | 2.61589300 |
| 40 | Renovascular hypertension (HP:0100817) | 2.61215541 |
| 41 | Progressive hearing impairment (HP:0001730) | 2.60658544 |
| 42 | Portal hypertension (HP:0001409) | 2.60622723 |
| 43 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.54788420 |
| 44 | Potter facies (HP:0002009) | 2.54558557 |
| 45 | Facial shape deformation (HP:0011334) | 2.54558557 |
| 46 | Menstrual irregularities (HP:0000858) | 2.54028712 |
| 47 | Tubulointerstitial abnormality (HP:0001969) | 2.52600246 |
| 48 | Abnormality of dental color (HP:0011073) | 2.44371267 |
| 49 | Rhinitis (HP:0012384) | 2.40441003 |
| 50 | Enlarged epiphyses (HP:0010580) | 2.38532732 |
| 51 | Nephronophthisis (HP:0000090) | 2.37926304 |
| 52 | Generalized aminoaciduria (HP:0002909) | 2.37780536 |
| 53 | Abnormality of the hepatic vasculature (HP:0006707) | 2.37758462 |
| 54 | Stage 5 chronic kidney disease (HP:0003774) | 2.37062818 |
| 55 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.30713790 |
| 56 | Absent epiphyses (HP:0010577) | 2.30713790 |
| 57 | Truncal obesity (HP:0001956) | 2.28003011 |
| 58 | Ependymoma (HP:0002888) | 2.24773119 |
| 59 | Postural instability (HP:0002172) | 2.22786417 |
| 60 | Abnormal urine output (HP:0012590) | 2.21601584 |
| 61 | Focal segmental glomerulosclerosis (HP:0000097) | 2.17903203 |
| 62 | Sloping forehead (HP:0000340) | 2.16928823 |
| 63 | Abnormality of the ileum (HP:0001549) | 2.15724116 |
| 64 | Polydipsia (HP:0001959) | 2.15008763 |
| 65 | Abnormal drinking behavior (HP:0030082) | 2.15008763 |
| 66 | Hypoplastic ischia (HP:0003175) | 2.14554819 |
| 67 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.12422551 |
| 68 | Upper limb muscle weakness (HP:0003484) | 2.10747811 |
| 69 | Meckel diverticulum (HP:0002245) | 2.09075536 |
| 70 | Progressive cerebellar ataxia (HP:0002073) | 2.08381671 |
| 71 | Amelogenesis imperfecta (HP:0000705) | 2.08346688 |
| 72 | Unilateral renal agenesis (HP:0000122) | 2.08205288 |
| 73 | Abnormality of the duodenum (HP:0002246) | 2.06958623 |
| 74 | Birth length less than 3rd percentile (HP:0003561) | 2.02320709 |
| 75 | Abnormality of the ischium (HP:0003174) | 2.02078282 |
| 76 | Abnormality of the parathyroid morphology (HP:0011766) | 2.01775652 |
| 77 | Pendular nystagmus (HP:0012043) | 2.00826249 |
| 78 | Increased purine levels (HP:0004368) | 2.00396919 |
| 79 | Hyperuricemia (HP:0002149) | 2.00396919 |
| 80 | Abnormality of renal excretion (HP:0011036) | 1.97037516 |
| 81 | Decreased central vision (HP:0007663) | 1.93952730 |
| 82 | Bell-shaped thorax (HP:0001591) | 1.93184572 |
| 83 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.91146323 |
| 84 | Flattened epiphyses (HP:0003071) | 1.90829396 |
| 85 | Hypergonadotropic hypogonadism (HP:0000815) | 1.89398488 |
| 86 | Abnormality of the renal medulla (HP:0100957) | 1.89292174 |
| 87 | Sensory axonal neuropathy (HP:0003390) | 1.88323561 |
| 88 | Recurrent pneumonia (HP:0006532) | 1.87922009 |
| 89 | Hypolipoproteinemia (HP:0010981) | 1.86163278 |
| 90 | Polyuria (HP:0000103) | 1.85911942 |
| 91 | Hypophosphatemic rickets (HP:0004912) | 1.85471414 |
| 92 | Abnormality of renal resorption (HP:0011038) | 1.85246699 |
| 93 | Poor head control (HP:0002421) | 1.81750465 |
| 94 | Abnormality of potassium homeostasis (HP:0011042) | 1.79728976 |
| 95 | Osteomalacia (HP:0002749) | 1.76802393 |
| 96 | Abnormality of sulfur amino acid metabolism (HP:0004339) | 1.73975598 |
| 97 | Glomerulosclerosis (HP:0000096) | 1.73391110 |
| 98 | Recurrent corneal erosions (HP:0000495) | 1.73339673 |
| 99 | Nasal speech (HP:0001611) | 1.72376942 |
| 100 | Abnormality of the costochondral junction (HP:0000919) | 1.68974503 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.90573741 |
| 2 | BRD4 | 4.25355453 |
| 3 | TESK1 | 3.73156225 |
| 4 | INSRR | 3.71878046 |
| 5 | DDR2 | 3.12626078 |
| 6 | PLK2 | 3.07510112 |
| 7 | PNCK | 2.66858936 |
| 8 | TTK | 2.62518250 |
| 9 | STK38L | 2.60446403 |
| 10 | STK38 | 2.01310184 |
| 11 | MST1R | 2.01253053 |
| 12 | PBK | 1.98665557 |
| 13 | CAMK1G | 1.97533104 |
| 14 | CCNB1 | 1.91607576 |
| 15 | MAP4K2 | 1.91123580 |
| 16 | ACVR1B | 1.74634900 |
| 17 | TNIK | 1.63874282 |
| 18 | BMPR1B | 1.52707650 |
| 19 | MST4 | 1.51446490 |
| 20 | WNK1 | 1.48832937 |
| 21 | EIF2AK3 | 1.48020660 |
| 22 | BUB1 | 1.39387221 |
| 23 | NEK6 | 1.37714926 |
| 24 | CDK12 | 1.36666667 |
| 25 | CDK7 | 1.29916994 |
| 26 | PIK3CG | 1.28036081 |
| 27 | MAPK15 | 1.17208447 |
| 28 | BRSK2 | 1.12993359 |
| 29 | PLK1 | 1.03031726 |
| 30 | ZAK | 1.01962926 |
| 31 | ERBB4 | 1.00658152 |
| 32 | NME1 | 0.97939090 |
| 33 | STK39 | 0.90494936 |
| 34 | BRAF | 0.89132233 |
| 35 | DYRK1B | 0.88313323 |
| 36 | MAP3K9 | 0.88077558 |
| 37 | PDPK1 | 0.87842795 |
| 38 | NUAK1 | 0.86351729 |
| 39 | CAMK1D | 0.86348152 |
| 40 | PDK1 | 0.85754789 |
| 41 | TYRO3 | 0.82864336 |
| 42 | SRPK1 | 0.82365483 |
| 43 | MAP3K13 | 0.78773753 |
| 44 | PTK2B | 0.75788842 |
| 45 | MKNK2 | 0.74744686 |
| 46 | TIE1 | 0.73749189 |
| 47 | PLK3 | 0.69260431 |
| 48 | CDC7 | 0.69219280 |
| 49 | STK16 | 0.67223307 |
| 50 | DYRK3 | 0.66528426 |
| 51 | MET | 0.66069472 |
| 52 | MUSK | 0.64292762 |
| 53 | BRSK1 | 0.64195359 |
| 54 | MAP3K8 | 0.60871505 |
| 55 | PRKG2 | 0.60046554 |
| 56 | PRKD3 | 0.58998645 |
| 57 | WEE1 | 0.53555307 |
| 58 | CDK1 | 0.51702212 |
| 59 | ERBB3 | 0.51607825 |
| 60 | CDK3 | 0.51092628 |
| 61 | OXSR1 | 0.50484490 |
| 62 | TAF1 | 0.46786480 |
| 63 | RPS6KA1 | 0.46496404 |
| 64 | CHEK2 | 0.46290624 |
| 65 | PRKAA2 | 0.45100278 |
| 66 | CHEK1 | 0.44117975 |
| 67 | WNK3 | 0.43856579 |
| 68 | TGFBR1 | 0.43278034 |
| 69 | LATS2 | 0.42583402 |
| 70 | WNK4 | 0.39548024 |
| 71 | PINK1 | 0.38065402 |
| 72 | CDK2 | 0.37615778 |
| 73 | PRKCG | 0.36021212 |
| 74 | VRK2 | 0.35673851 |
| 75 | KSR2 | 0.34729100 |
| 76 | GSK3B | 0.33766209 |
| 77 | VRK1 | 0.33241352 |
| 78 | RPS6KA2 | 0.32090664 |
| 79 | PRKG1 | 0.30942639 |
| 80 | ABL2 | 0.28028331 |
| 81 | FGFR1 | 0.27891562 |
| 82 | BLK | 0.27760939 |
| 83 | NME2 | 0.27652440 |
| 84 | BMPR2 | 0.27423470 |
| 85 | TSSK6 | 0.26331662 |
| 86 | NEK2 | 0.26311962 |
| 87 | MKNK1 | 0.24982581 |
| 88 | CDK9 | 0.24411886 |
| 89 | MAPK1 | 0.24306853 |
| 90 | ROCK1 | 0.23224517 |
| 91 | SGK1 | 0.22657344 |
| 92 | TRIM28 | 0.22626992 |
| 93 | NEK1 | 0.21886737 |
| 94 | PIM2 | 0.21165204 |
| 95 | PAK4 | 0.20897861 |
| 96 | MAPK14 | 0.20642596 |
| 97 | PRKACB | 0.20184029 |
| 98 | STK3 | 0.19311430 |
| 99 | MTOR | 0.18984152 |
| 100 | CAMK1 | 0.17397662 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.18483923 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.46019839 |
| 3 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 4.21667942 |
| 4 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 3.00199322 |
| 5 | RNA transport_Homo sapiens_hsa03013 | 2.93164380 |
| 6 | Olfactory transduction_Homo sapiens_hsa04740 | 2.53154560 |
| 7 | Mismatch repair_Homo sapiens_hsa03430 | 2.41505652 |
| 8 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 2.24879545 |
| 9 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.12831802 |
| 10 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 2.10347542 |
| 11 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.04396238 |
| 12 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.95755553 |
| 13 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.77033444 |
| 14 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.74810148 |
| 15 | Proteasome_Homo sapiens_hsa03050 | 1.71436955 |
| 16 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.49847500 |
| 17 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.46937234 |
| 18 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.46498997 |
| 19 | DNA replication_Homo sapiens_hsa03030 | 1.45411482 |
| 20 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.42682832 |
| 21 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.41240056 |
| 22 | Base excision repair_Homo sapiens_hsa03410 | 1.41085790 |
| 23 | Taste transduction_Homo sapiens_hsa04742 | 1.36917481 |
| 24 | Cell cycle_Homo sapiens_hsa04110 | 1.34230019 |
| 25 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.33665038 |
| 26 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.32005304 |
| 27 | RNA polymerase_Homo sapiens_hsa03020 | 1.29149416 |
| 28 | Basal transcription factors_Homo sapiens_hsa03022 | 1.29001629 |
| 29 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.22878237 |
| 30 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.20897154 |
| 31 | Lysosome_Homo sapiens_hsa04142 | 1.18911691 |
| 32 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.16901358 |
| 33 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.09912745 |
| 34 | Huntingtons disease_Homo sapiens_hsa05016 | 1.09795800 |
| 35 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.02607294 |
| 36 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.97111658 |
| 37 | Carbon metabolism_Homo sapiens_hsa01200 | 0.96860132 |
| 38 | Sulfur relay system_Homo sapiens_hsa04122 | 0.96812764 |
| 39 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.95624423 |
| 40 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.94231557 |
| 41 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.92937624 |
| 42 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.91027077 |
| 43 | Purine metabolism_Homo sapiens_hsa00230 | 0.84702735 |
| 44 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.84523822 |
| 45 | Homologous recombination_Homo sapiens_hsa03440 | 0.84371526 |
| 46 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.82304118 |
| 47 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.80573378 |
| 48 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.80273166 |
| 49 | Galactose metabolism_Homo sapiens_hsa00052 | 0.76943799 |
| 50 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.76641183 |
| 51 | Allograft rejection_Homo sapiens_hsa05330 | 0.74672151 |
| 52 | Influenza A_Homo sapiens_hsa05164 | 0.72507923 |
| 53 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.70639604 |
| 54 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.70093820 |
| 55 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.70082921 |
| 56 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.68440871 |
| 57 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.67506653 |
| 58 | Other glycan degradation_Homo sapiens_hsa00511 | 0.63544964 |
| 59 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.62410755 |
| 60 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.60273957 |
| 61 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.59124836 |
| 62 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.58207356 |
| 63 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.57573000 |
| 64 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.54593209 |
| 65 | Retinol metabolism_Homo sapiens_hsa00830 | 0.54526496 |
| 66 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.53687607 |
| 67 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.52646683 |
| 68 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.52021908 |
| 69 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.51395849 |
| 70 | Metabolic pathways_Homo sapiens_hsa01100 | 0.51363109 |
| 71 | Viral myocarditis_Homo sapiens_hsa05416 | 0.49943116 |
| 72 | RNA degradation_Homo sapiens_hsa03018 | 0.49156856 |
| 73 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.49105260 |
| 74 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.49062797 |
| 75 | Mineral absorption_Homo sapiens_hsa04978 | 0.47945193 |
| 76 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.45533946 |
| 77 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.44145696 |
| 78 | Adherens junction_Homo sapiens_hsa04520 | 0.43798565 |
| 79 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.42625326 |
| 80 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.41554597 |
| 81 | Endocytosis_Homo sapiens_hsa04144 | 0.39684054 |
| 82 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.39065362 |
| 83 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.37727332 |
| 84 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.37338981 |
| 85 | Spliceosome_Homo sapiens_hsa03040 | 0.36913149 |
| 86 | Phototransduction_Homo sapiens_hsa04744 | 0.36637117 |
| 87 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.34462299 |
| 88 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.34419918 |
| 89 | Phagosome_Homo sapiens_hsa04145 | 0.30791760 |
| 90 | Legionellosis_Homo sapiens_hsa05134 | 0.29785250 |
| 91 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.27453375 |
| 92 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.26947089 |
| 93 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.26821136 |
| 94 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.25848803 |
| 95 | Tight junction_Homo sapiens_hsa04530 | 0.24650941 |
| 96 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.23606249 |
| 97 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.22536461 |
| 98 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.22428742 |
| 99 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.21985880 |
| 100 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.17612425 |

