

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | synapsis (GO:0007129) | 7.92307563 |
| 2 | sperm motility (GO:0030317) | 7.55818598 |
| 3 | male meiosis I (GO:0007141) | 7.39594420 |
| 4 | acrosome reaction (GO:0007340) | 7.38442156 |
| 5 | male meiosis (GO:0007140) | 7.22231234 |
| 6 | chromosome organization involved in meiosis (GO:0070192) | 7.10371613 |
| 7 | piRNA metabolic process (GO:0034587) | 7.03566789 |
| 8 | fusion of sperm to egg plasma membrane (GO:0007342) | 6.82911194 |
| 9 | meiosis I (GO:0007127) | 6.48767672 |
| 10 | synaptonemal complex assembly (GO:0007130) | 6.28473623 |
| 11 | spermatid development (GO:0007286) | 6.11282965 |
| 12 | microtubule depolymerization (GO:0007019) | 6.04038487 |
| 13 | DNA packaging (GO:0006323) | 5.94248458 |
| 14 | DNA methylation involved in gamete generation (GO:0043046) | 5.91993646 |
| 15 | sperm-egg recognition (GO:0035036) | 5.90838801 |
| 16 | sperm capacitation (GO:0048240) | 5.73233015 |
| 17 | binding of sperm to zona pellucida (GO:0007339) | 5.70853756 |
| 18 | meiotic nuclear division (GO:0007126) | 5.65357180 |
| 19 | synaptonemal complex organization (GO:0070193) | 5.61943991 |
| 20 | chromosome condensation (GO:0030261) | 5.61212849 |
| 21 | rRNA methylation (GO:0031167) | 5.36976373 |
| 22 | single strand break repair (GO:0000012) | 5.33062748 |
| 23 | microtubule polymerization or depolymerization (GO:0031109) | 5.28791902 |
| 24 | multicellular organism reproduction (GO:0032504) | 5.28648183 |
| 25 | protein targeting to Golgi (GO:0000042) | 5.12474610 |
| 26 | plasma membrane fusion (GO:0045026) | 5.10935180 |
| 27 | regulation of meiosis I (GO:0060631) | 5.08018512 |
| 28 | establishment of protein localization to Golgi (GO:0072600) | 4.93100539 |
| 29 | spermatogenesis (GO:0007283) | 4.87442401 |
| 30 | male gamete generation (GO:0048232) | 4.86970842 |
| 31 | meiotic cell cycle process (GO:1903046) | 4.86146941 |
| 32 | centriole replication (GO:0007099) | 4.81687456 |
| 33 | cell-cell recognition (GO:0009988) | 4.80640545 |
| 34 | axonemal dynein complex assembly (GO:0070286) | 4.68867231 |
| 35 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 4.64372912 |
| 36 | gamete generation (GO:0007276) | 4.62969360 |
| 37 | response to pheromone (GO:0019236) | 4.61495579 |
| 38 | reproduction (GO:0000003) | 4.50702211 |
| 39 | regulation of centriole replication (GO:0046599) | 4.49306884 |
| 40 | rRNA modification (GO:0000154) | 4.36849743 |
| 41 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.32459805 |
| 42 | DNA synthesis involved in DNA repair (GO:0000731) | 4.28285678 |
| 43 | protein polyglutamylation (GO:0018095) | 4.27630259 |
| 44 | spermatid nucleus differentiation (GO:0007289) | 4.27139132 |
| 45 | epithelial cilium movement (GO:0003351) | 4.26631449 |
| 46 | sister chromatid cohesion (GO:0007062) | 4.13169244 |
| 47 | genitalia morphogenesis (GO:0035112) | 4.09899051 |
| 48 | resolution of meiotic recombination intermediates (GO:0000712) | 4.08801248 |
| 49 | centriole assembly (GO:0098534) | 4.02604110 |
| 50 | histone exchange (GO:0043486) | 4.01450057 |
| 51 | fertilization (GO:0009566) | 4.00173160 |
| 52 | cellular ketone body metabolic process (GO:0046950) | 3.94737578 |
| 53 | single fertilization (GO:0007338) | 3.81100605 |
| 54 | meiotic chromosome segregation (GO:0045132) | 3.79538583 |
| 55 | regulation of cilium movement (GO:0003352) | 3.78406405 |
| 56 | germ cell development (GO:0007281) | 3.76233316 |
| 57 | protein localization to Golgi apparatus (GO:0034067) | 3.73486023 |
| 58 | positive regulation of meiosis (GO:0045836) | 3.70869590 |
| 59 | negative regulation of inclusion body assembly (GO:0090084) | 3.65432170 |
| 60 | multicellular organismal reproductive process (GO:0048609) | 3.64609128 |
| 61 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.63485995 |
| 62 | calcium ion-dependent exocytosis (GO:0017156) | 3.59640285 |
| 63 | positive regulation of meiotic cell cycle (GO:0051446) | 3.49283976 |
| 64 | cilium movement (GO:0003341) | 3.47170623 |
| 65 | ketone body metabolic process (GO:1902224) | 3.45831284 |
| 66 | coenzyme catabolic process (GO:0009109) | 3.45530992 |
| 67 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 3.44842046 |
| 68 | somite rostral/caudal axis specification (GO:0032525) | 3.35836500 |
| 69 | reciprocal DNA recombination (GO:0035825) | 3.25366028 |
| 70 | reciprocal meiotic recombination (GO:0007131) | 3.25366028 |
| 71 | phosphatidylethanolamine metabolic process (GO:0046337) | 3.14705837 |
| 72 | histone H3-K9 demethylation (GO:0033169) | 3.13365229 |
| 73 | seminiferous tubule development (GO:0072520) | 3.09584578 |
| 74 | sexual reproduction (GO:0019953) | 3.07696660 |
| 75 | regulation of mesoderm development (GO:2000380) | 3.04660666 |
| 76 | regulation of double-strand break repair via homologous recombination (GO:0010569) | 3.01642213 |
| 77 | motile cilium assembly (GO:0044458) | 3.00133599 |
| 78 | cell wall macromolecule catabolic process (GO:0016998) | 2.98613066 |
| 79 | nucleus organization (GO:0006997) | 2.98327888 |
| 80 | RNA destabilization (GO:0050779) | 2.95009778 |
| 81 | intraciliary transport (GO:0042073) | 2.94185494 |
| 82 | cell wall macromolecule metabolic process (GO:0044036) | 2.87855112 |
| 83 | regulation of microtubule-based movement (GO:0060632) | 2.85482964 |
| 84 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.81998159 |
| 85 | mitotic sister chromatid cohesion (GO:0007064) | 2.79265360 |
| 86 | embryonic foregut morphogenesis (GO:0048617) | 2.78345137 |
| 87 | polyamine biosynthetic process (GO:0006596) | 2.76731539 |
| 88 | regulation of transcription involved in cell fate commitment (GO:0060850) | 2.75911311 |
| 89 | negative regulation of gene silencing (GO:0060969) | 2.75882527 |
| 90 | organic cation transport (GO:0015695) | 2.73657707 |
| 91 | proteasome assembly (GO:0043248) | 2.72484860 |
| 92 | microtubule severing (GO:0051013) | 2.72383131 |
| 93 | female gamete generation (GO:0007292) | 2.71855750 |
| 94 | cerebral cortex neuron differentiation (GO:0021895) | 2.71284546 |
| 95 | nuclear pore complex assembly (GO:0051292) | 2.66049157 |
| 96 | reproductive system development (GO:0061458) | 2.62782306 |
| 97 | gene silencing by RNA (GO:0031047) | 2.57821187 |
| 98 | regulation of centrosome duplication (GO:0010824) | 2.56549697 |
| 99 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.54892270 |
| 100 | positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968) | 2.54125745 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.87810545 |
| 2 | FUS_26573619_Chip-Seq_HEK293_Human | 3.66595711 |
| 3 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.85287061 |
| 4 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.75034210 |
| 5 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 2.74450547 |
| 6 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.70700550 |
| 7 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.70700550 |
| 8 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.56653535 |
| 9 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.53619094 |
| 10 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.43799681 |
| 11 | VDR_22108803_ChIP-Seq_LS180_Human | 2.42296597 |
| 12 | * POU3F2_20337985_ChIP-ChIP_501MEL_Human | 2.23535312 |
| 13 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.20268400 |
| 14 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.20150522 |
| 15 | P300_19829295_ChIP-Seq_ESCs_Human | 2.17243238 |
| 16 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.14422442 |
| 17 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.10009116 |
| 18 | * UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 2.01695175 |
| 19 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.98718317 |
| 20 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.97482414 |
| 21 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.96190631 |
| 22 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.94007386 |
| 23 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.94007386 |
| 24 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.82701217 |
| 25 | EWS_26573619_Chip-Seq_HEK293_Human | 1.82395123 |
| 26 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.79653731 |
| 27 | AR_25329375_ChIP-Seq_VCAP_Human | 1.79192757 |
| 28 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.76116435 |
| 29 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.72067792 |
| 30 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.68584586 |
| 31 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.64254890 |
| 32 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.59204701 |
| 33 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.57327290 |
| 34 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.49933698 |
| 35 | * NANOG_19829295_ChIP-Seq_ESCs_Human | 1.47070416 |
| 36 | * SOX2_19829295_ChIP-Seq_ESCs_Human | 1.47070416 |
| 37 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.43714674 |
| 38 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.42743579 |
| 39 | * RUNX2_22187159_ChIP-Seq_PCA_Human | 1.38413280 |
| 40 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.37593069 |
| 41 | * STAT3_23295773_ChIP-Seq_U87_Human | 1.35683786 |
| 42 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.35284554 |
| 43 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.34189432 |
| 44 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.34142856 |
| 45 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.33936109 |
| 46 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.33226300 |
| 47 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.32346205 |
| 48 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.30620089 |
| 49 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.30417435 |
| 50 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.30032632 |
| 51 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.28977989 |
| 52 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.28958462 |
| 53 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.28793668 |
| 54 | * AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.28316276 |
| 55 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.27955133 |
| 56 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.27630837 |
| 57 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.27298418 |
| 58 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.27211891 |
| 59 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.25893824 |
| 60 | CDX2_22108803_ChIP-Seq_LS180_Human | 1.24252542 |
| 61 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.23669572 |
| 62 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.23335954 |
| 63 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.23335954 |
| 64 | TCF4_23295773_ChIP-Seq_U87_Human | 1.22231787 |
| 65 | NFYB_21822215_ChIP-Seq_K562_Human | 1.22011277 |
| 66 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.21578820 |
| 67 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.18784811 |
| 68 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 1.18752344 |
| 69 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.17499627 |
| 70 | ERA_21632823_ChIP-Seq_H3396_Human | 1.17355165 |
| 71 | TBL1_22424771_ChIP-Seq_293T_Human | 1.16820173 |
| 72 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.16650297 |
| 73 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.16470154 |
| 74 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.16044598 |
| 75 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.11856564 |
| 76 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.11371092 |
| 77 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.11086448 |
| 78 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.10593458 |
| 79 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.10583660 |
| 80 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.10029709 |
| 81 | NFYA_21822215_ChIP-Seq_K562_Human | 1.09640592 |
| 82 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.09436311 |
| 83 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.08413980 |
| 84 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.08403344 |
| 85 | GATA3_26560356_Chip-Seq_TH1_Human | 1.07759005 |
| 86 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.06542089 |
| 87 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.06367081 |
| 88 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.06042315 |
| 89 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.05635415 |
| 90 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.04761957 |
| 91 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.04363649 |
| 92 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.03708710 |
| 93 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.03038626 |
| 94 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.02979975 |
| 95 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 1.02741815 |
| 96 | * EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.02637412 |
| 97 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.02144248 |
| 98 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.02137305 |
| 99 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.00849405 |
| 100 | TP53_22573176_ChIP-Seq_HFKS_Human | 0.99568425 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 6.94999994 |
| 2 | MP0008877_abnormal_DNA_methylation | 4.12906331 |
| 3 | MP0003698_abnormal_male_reproductive | 3.75785109 |
| 4 | MP0001929_abnormal_gametogenesis | 3.73977640 |
| 5 | MP0002210_abnormal_sex_determination | 2.87783518 |
| 6 | MP0009379_abnormal_foot_pigmentation | 2.73027137 |
| 7 | MP0010030_abnormal_orbit_morphology | 2.57221881 |
| 8 | MP0005377_hearing/vestibular/ear_phenot | 2.47159572 |
| 9 | MP0003878_abnormal_ear_physiology | 2.47159572 |
| 10 | MP0001145_abnormal_male_reproductive | 2.33246729 |
| 11 | MP0003119_abnormal_digestive_system | 2.31258789 |
| 12 | MP0008058_abnormal_DNA_repair | 2.29509692 |
| 13 | MP0008789_abnormal_olfactory_epithelium | 2.28785000 |
| 14 | MP0006054_spinal_hemorrhage | 2.28123544 |
| 15 | MP0009053_abnormal_anal_canal | 2.26568961 |
| 16 | MP0000653_abnormal_sex_gland | 2.21413416 |
| 17 | MP0003718_maternal_effect | 2.19488184 |
| 18 | MP0002161_abnormal_fertility/fecundity | 2.09929236 |
| 19 | MP0006292_abnormal_olfactory_placode | 2.09368182 |
| 20 | MP0002282_abnormal_trachea_morphology | 2.00624987 |
| 21 | MP0003136_yellow_coat_color | 1.94490557 |
| 22 | MP0003880_abnormal_central_pattern | 1.86660318 |
| 23 | MP0005394_taste/olfaction_phenotype | 1.85891509 |
| 24 | MP0005499_abnormal_olfactory_system | 1.85891509 |
| 25 | MP0000372_irregular_coat_pigmentation | 1.84170986 |
| 26 | MP0002234_abnormal_pharynx_morphology | 1.78588678 |
| 27 | MP0003890_abnormal_embryonic-extraembry | 1.72922723 |
| 28 | MP0009697_abnormal_copulation | 1.72332541 |
| 29 | MP0000579_abnormal_nail_morphology | 1.68596700 |
| 30 | MP0008995_early_reproductive_senescence | 1.66696747 |
| 31 | MP0005423_abnormal_somatic_nervous | 1.65116429 |
| 32 | MP0000566_synostosis | 1.58798749 |
| 33 | MP0001485_abnormal_pinna_reflex | 1.57864515 |
| 34 | MP0004957_abnormal_blastocyst_morpholog | 1.53876351 |
| 35 | MP0008004_abnormal_stomach_pH | 1.51361197 |
| 36 | MP0000383_abnormal_hair_follicle | 1.46791659 |
| 37 | MP0003937_abnormal_limbs/digits/tail_de | 1.44673540 |
| 38 | MP0005551_abnormal_eye_electrophysiolog | 1.43518929 |
| 39 | MP0002233_abnormal_nose_morphology | 1.43338206 |
| 40 | MP0003385_abnormal_body_wall | 1.42434189 |
| 41 | MP0002160_abnormal_reproductive_system | 1.37305952 |
| 42 | MP0003011_delayed_dark_adaptation | 1.31369860 |
| 43 | MP0005084_abnormal_gallbladder_morpholo | 1.29153210 |
| 44 | MP0002254_reproductive_system_inflammat | 1.26566484 |
| 45 | MP0001293_anophthalmia | 1.25998069 |
| 46 | MP0010678_abnormal_skin_adnexa | 1.19793149 |
| 47 | MP0005253_abnormal_eye_physiology | 1.17747091 |
| 48 | MP0002132_abnormal_respiratory_system | 1.17435775 |
| 49 | MP0001879_abnormal_lymphatic_vessel | 1.15602641 |
| 50 | MP0001119_abnormal_female_reproductive | 1.08118539 |
| 51 | MP0009250_abnormal_appendicular_skeleto | 1.06828363 |
| 52 | MP0001286_abnormal_eye_development | 1.05473590 |
| 53 | MP0002249_abnormal_larynx_morphology | 1.05179413 |
| 54 | MP0001984_abnormal_olfaction | 1.01511962 |
| 55 | MP0002736_abnormal_nociception_after | 0.99510139 |
| 56 | MP0000049_abnormal_middle_ear | 0.98902550 |
| 57 | MP0002102_abnormal_ear_morphology | 0.96671410 |
| 58 | MP0003646_muscle_fatigue | 0.91519407 |
| 59 | MP0003077_abnormal_cell_cycle | 0.88558718 |
| 60 | MP0002109_abnormal_limb_morphology | 0.87799505 |
| 61 | MP0003936_abnormal_reproductive_system | 0.87527337 |
| 62 | MP0003115_abnormal_respiratory_system | 0.87326375 |
| 63 | MP0005167_abnormal_blood-brain_barrier | 0.86986421 |
| 64 | MP0001486_abnormal_startle_reflex | 0.86914202 |
| 65 | MP0000462_abnormal_digestive_system | 0.86791629 |
| 66 | MP0006072_abnormal_retinal_apoptosis | 0.86755891 |
| 67 | MP0003699_abnormal_female_reproductive | 0.86717676 |
| 68 | MP0001348_abnormal_lacrimal_gland | 0.86279546 |
| 69 | MP0000026_abnormal_inner_ear | 0.85716851 |
| 70 | MP0001666_abnormal_nutrient_absorption | 0.85551430 |
| 71 | MP0001346_abnormal_lacrimal_gland | 0.84992115 |
| 72 | MP0002084_abnormal_developmental_patter | 0.84629822 |
| 73 | MP0005389_reproductive_system_phenotype | 0.83397279 |
| 74 | MP0001529_abnormal_vocalization | 0.82788230 |
| 75 | MP0005391_vision/eye_phenotype | 0.82712450 |
| 76 | MP0002938_white_spotting | 0.82698531 |
| 77 | MP0003935_abnormal_craniofacial_develop | 0.79891402 |
| 78 | MP0008961_abnormal_basal_metabolism | 0.79594356 |
| 79 | MP0000762_abnormal_tongue_morphology | 0.79199172 |
| 80 | MP0001963_abnormal_hearing_physiology | 0.79103235 |
| 81 | MP0001968_abnormal_touch/_nociception | 0.78978386 |
| 82 | MP0002085_abnormal_embryonic_tissue | 0.78328761 |
| 83 | MP0005248_abnormal_Harderian_gland | 0.77363847 |
| 84 | MP0005670_abnormal_white_adipose | 0.76045408 |
| 85 | MP0002928_abnormal_bile_duct | 0.73812443 |
| 86 | MP0002697_abnormal_eye_size | 0.72787708 |
| 87 | MP0004133_heterotaxia | 0.70696773 |
| 88 | MP0003938_abnormal_ear_development | 0.69562981 |
| 89 | MP0010094_abnormal_chromosome_stability | 0.67411639 |
| 90 | MP0003693_abnormal_embryo_hatching | 0.66271247 |
| 91 | MP0003941_abnormal_skin_development | 0.65944511 |
| 92 | MP0000955_abnormal_spinal_cord | 0.64260010 |
| 93 | MP0003755_abnormal_palate_morphology | 0.64092386 |
| 94 | MP0000631_abnormal_neuroendocrine_gland | 0.60816391 |
| 95 | MP0003861_abnormal_nervous_system | 0.60254678 |
| 96 | MP0005379_endocrine/exocrine_gland_phen | 0.58352612 |
| 97 | MP0001299_abnormal_eye_distance/ | 0.58338608 |
| 98 | MP0000427_abnormal_hair_cycle | 0.57718293 |
| 99 | MP0000432_abnormal_head_morphology | 0.56756638 |
| 100 | MP0000647_abnormal_sebaceous_gland | 0.56199370 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 4.43317563 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 4.43317563 |
| 3 | Tubulointerstitial nephritis (HP:0001970) | 4.38854656 |
| 4 | Severe visual impairment (HP:0001141) | 4.06842486 |
| 5 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.87475344 |
| 6 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.67539994 |
| 7 | Gonadotropin excess (HP:0000837) | 3.60012939 |
| 8 | Nephronophthisis (HP:0000090) | 3.53717224 |
| 9 | Abnormal ciliary motility (HP:0012262) | 3.33975845 |
| 10 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.29503667 |
| 11 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.29503667 |
| 12 | Azoospermia (HP:0000027) | 3.21297939 |
| 13 | Abnormality of the renal medulla (HP:0100957) | 3.19968569 |
| 14 | Attenuation of retinal blood vessels (HP:0007843) | 3.09400820 |
| 15 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.08552138 |
| 16 | Volvulus (HP:0002580) | 3.05712583 |
| 17 | Hyperkalemia (HP:0002153) | 3.02062973 |
| 18 | Rhinitis (HP:0012384) | 3.01191745 |
| 19 | Abnormal spermatogenesis (HP:0008669) | 2.95036816 |
| 20 | Chronic hepatic failure (HP:0100626) | 2.89766738 |
| 21 | Cerebellar dysplasia (HP:0007033) | 2.80939319 |
| 22 | Optic nerve hypoplasia (HP:0000609) | 2.76660940 |
| 23 | Bell-shaped thorax (HP:0001591) | 2.74681756 |
| 24 | Esophageal atresia (HP:0002032) | 2.64417569 |
| 25 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.61448493 |
| 26 | Hypoplastic ischia (HP:0003175) | 2.52943349 |
| 27 | Abnormality of the ischium (HP:0003174) | 2.48136751 |
| 28 | Abnormality of the labia minora (HP:0012880) | 2.45893199 |
| 29 | 3-Methylglutaconic aciduria (HP:0003535) | 2.44848489 |
| 30 | Type I transferrin isoform profile (HP:0003642) | 2.38324624 |
| 31 | Infertility (HP:0000789) | 2.34582848 |
| 32 | Abnormality of macular pigmentation (HP:0008002) | 2.34131736 |
| 33 | Stage 5 chronic kidney disease (HP:0003774) | 2.31601429 |
| 34 | Spontaneous abortion (HP:0005268) | 2.30284853 |
| 35 | Atonic seizures (HP:0010819) | 2.27690510 |
| 36 | Resting tremor (HP:0002322) | 2.26288637 |
| 37 | Anterior segment dysgenesis (HP:0007700) | 2.23871611 |
| 38 | Gastrointestinal atresia (HP:0002589) | 2.23427539 |
| 39 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.20112161 |
| 40 | Abnormal urine output (HP:0012590) | 2.19483593 |
| 41 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.18430035 |
| 42 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.16598077 |
| 43 | Molar tooth sign on MRI (HP:0002419) | 2.10237940 |
| 44 | Abnormality of midbrain morphology (HP:0002418) | 2.10237940 |
| 45 | Occipital encephalocele (HP:0002085) | 2.08298918 |
| 46 | Polyuria (HP:0000103) | 2.08167838 |
| 47 | Tubulointerstitial abnormality (HP:0001969) | 2.06626593 |
| 48 | Potter facies (HP:0002009) | 2.03874427 |
| 49 | Facial shape deformation (HP:0011334) | 2.03874427 |
| 50 | Retinal atrophy (HP:0001105) | 2.03446073 |
| 51 | Duodenal stenosis (HP:0100867) | 2.03398126 |
| 52 | Small intestinal stenosis (HP:0012848) | 2.03398126 |
| 53 | Sensory axonal neuropathy (HP:0003390) | 2.03051448 |
| 54 | Type II lissencephaly (HP:0007260) | 2.01698362 |
| 55 | Increased density of long bones (HP:0006392) | 1.98843170 |
| 56 | Renal dysplasia (HP:0000110) | 1.98813347 |
| 57 | Meckel diverticulum (HP:0002245) | 1.98544804 |
| 58 | Abnormality of the duodenum (HP:0002246) | 1.97642402 |
| 59 | Chronic bronchitis (HP:0004469) | 1.97112349 |
| 60 | Abnormality of chromosome stability (HP:0003220) | 1.96684318 |
| 61 | Abnormality of the renal cortex (HP:0011035) | 1.94281197 |
| 62 | Abnormality of the ileum (HP:0001549) | 1.93644681 |
| 63 | Median cleft lip (HP:0000161) | 1.90837969 |
| 64 | Polydipsia (HP:0001959) | 1.90350820 |
| 65 | Abnormal drinking behavior (HP:0030082) | 1.90350820 |
| 66 | Abnormality of DNA repair (HP:0003254) | 1.89027485 |
| 67 | Popliteal pterygium (HP:0009756) | 1.88704548 |
| 68 | Abnormal protein glycosylation (HP:0012346) | 1.87323361 |
| 69 | Abnormal glycosylation (HP:0012345) | 1.87323361 |
| 70 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 1.87323361 |
| 71 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.87323361 |
| 72 | Genital tract atresia (HP:0001827) | 1.84051639 |
| 73 | Vaginal atresia (HP:0000148) | 1.81498465 |
| 74 | Generalized aminoaciduria (HP:0002909) | 1.81222228 |
| 75 | Abnormal rod and cone electroretinograms (HP:0008323) | 1.80905520 |
| 76 | Abnormality of the parietal bone (HP:0002696) | 1.80230906 |
| 77 | Abnormality of renal excretion (HP:0011036) | 1.77943646 |
| 78 | Small hand (HP:0200055) | 1.75799913 |
| 79 | Intellectual disability, moderate (HP:0002342) | 1.75222095 |
| 80 | Abnormality of the phalanges of the 2nd finger (HP:0009541) | 1.75027340 |
| 81 | Horizontal nystagmus (HP:0000666) | 1.73217466 |
| 82 | Abnormality of chloride homeostasis (HP:0011422) | 1.72633525 |
| 83 | Septo-optic dysplasia (HP:0100842) | 1.70357435 |
| 84 | Anophthalmia (HP:0000528) | 1.69992564 |
| 85 | Hypoplastic labia majora (HP:0000059) | 1.69748861 |
| 86 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.69600698 |
| 87 | Abnormality of cochlea (HP:0000375) | 1.68237708 |
| 88 | Pendular nystagmus (HP:0012043) | 1.67454094 |
| 89 | Male infertility (HP:0003251) | 1.66202262 |
| 90 | Triphalangeal thumb (HP:0001199) | 1.65996634 |
| 91 | Maternal diabetes (HP:0009800) | 1.65803293 |
| 92 | Bilateral microphthalmos (HP:0007633) | 1.65313228 |
| 93 | Absent septum pellucidum (HP:0001331) | 1.63781661 |
| 94 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 1.63206639 |
| 95 | Abnormality of alanine metabolism (HP:0010916) | 1.63206639 |
| 96 | Hyperalaninemia (HP:0003348) | 1.63206639 |
| 97 | Hypomagnesemia (HP:0002917) | 1.61297060 |
| 98 | Hypothermia (HP:0002045) | 1.60471682 |
| 99 | Congenital malformation of the right heart (HP:0011723) | 1.59382696 |
| 100 | Double outlet right ventricle (HP:0001719) | 1.59382696 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PNCK | 5.99007591 |
| 2 | PLK4 | 5.92405001 |
| 3 | PLK2 | 2.93157339 |
| 4 | FGFR2 | 2.91330177 |
| 5 | BRD4 | 2.40269702 |
| 6 | STK38L | 2.34946801 |
| 7 | BMPR1B | 2.34609456 |
| 8 | CAMK1G | 2.29705282 |
| 9 | CDK19 | 2.17937621 |
| 10 | ZAK | 2.14953042 |
| 11 | MST4 | 2.02959385 |
| 12 | MET | 1.99599008 |
| 13 | MAP4K2 | 1.89173782 |
| 14 | NUAK1 | 1.81899870 |
| 15 | INSRR | 1.72850975 |
| 16 | DDR2 | 1.72797741 |
| 17 | TNIK | 1.67946189 |
| 18 | WNK3 | 1.63796427 |
| 19 | WNK4 | 1.57380949 |
| 20 | OXSR1 | 1.57328905 |
| 21 | DYRK3 | 1.55041901 |
| 22 | MAP3K4 | 1.52480522 |
| 23 | MAP2K2 | 1.44706142 |
| 24 | TAF1 | 1.41986295 |
| 25 | TTK | 1.41852987 |
| 26 | PTK2B | 1.41313761 |
| 27 | CASK | 1.38949405 |
| 28 | MAPK15 | 1.30892186 |
| 29 | STK38 | 1.30154586 |
| 30 | MST1R | 1.28802241 |
| 31 | MKNK2 | 1.27778823 |
| 32 | STK39 | 1.25760600 |
| 33 | TXK | 1.20178449 |
| 34 | FRK | 1.17692529 |
| 35 | TESK1 | 1.16527393 |
| 36 | BRSK2 | 1.15674646 |
| 37 | TYRO3 | 1.15574104 |
| 38 | TRIM28 | 1.13324942 |
| 39 | PDK2 | 1.07359758 |
| 40 | VRK2 | 1.07083477 |
| 41 | BUB1 | 1.04851191 |
| 42 | MAP2K7 | 1.03161765 |
| 43 | EPHA4 | 0.99440002 |
| 44 | ERBB4 | 0.99089207 |
| 45 | VRK1 | 0.98110291 |
| 46 | PLK1 | 0.97904295 |
| 47 | STK16 | 0.96819631 |
| 48 | FGFR1 | 0.95825861 |
| 49 | PBK | 0.92335808 |
| 50 | AKT3 | 0.88143072 |
| 51 | FGR | 0.81935327 |
| 52 | NEK1 | 0.81130990 |
| 53 | PASK | 0.79002495 |
| 54 | PLK3 | 0.76130048 |
| 55 | MAP3K9 | 0.74496534 |
| 56 | CDC7 | 0.74246861 |
| 57 | NLK | 0.73188808 |
| 58 | TGFBR1 | 0.72298328 |
| 59 | MAP3K6 | 0.71444034 |
| 60 | WNK1 | 0.68298589 |
| 61 | TLK1 | 0.67231253 |
| 62 | PINK1 | 0.66244965 |
| 63 | RET | 0.64638731 |
| 64 | NEK2 | 0.64516772 |
| 65 | STK10 | 0.62412193 |
| 66 | MKNK1 | 0.60002522 |
| 67 | NEK6 | 0.54825929 |
| 68 | WEE1 | 0.53535211 |
| 69 | CHEK1 | 0.52404380 |
| 70 | PIK3CG | 0.50498166 |
| 71 | CAMK1 | 0.47344333 |
| 72 | PRKG1 | 0.45402270 |
| 73 | SGK1 | 0.44690321 |
| 74 | BMX | 0.44372776 |
| 75 | MAP2K1 | 0.43704633 |
| 76 | MAP2K4 | 0.41951429 |
| 77 | GRK1 | 0.41405461 |
| 78 | ACVR1B | 0.40875861 |
| 79 | BRSK1 | 0.39554584 |
| 80 | PRKACB | 0.38073128 |
| 81 | ATR | 0.35398858 |
| 82 | ROCK1 | 0.34707602 |
| 83 | EIF2AK3 | 0.34693239 |
| 84 | CDK3 | 0.34107681 |
| 85 | PRKCE | 0.30403785 |
| 86 | PDK1 | 0.29957219 |
| 87 | MAPK13 | 0.29658229 |
| 88 | CDK7 | 0.27157062 |
| 89 | FLT3 | 0.26464825 |
| 90 | SRPK1 | 0.25810383 |
| 91 | CDK2 | 0.25250895 |
| 92 | ADRBK1 | 0.24789679 |
| 93 | EGFR | 0.23694343 |
| 94 | RPS6KA4 | 0.23604639 |
| 95 | DYRK1A | 0.22175040 |
| 96 | CSF1R | 0.21610982 |
| 97 | CDK1 | 0.21442259 |
| 98 | ATM | 0.21014714 |
| 99 | PDGFRB | 0.20757183 |
| 100 | PRKD3 | 0.20153224 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.94114135 |
| 2 | Basal transcription factors_Homo sapiens_hsa03022 | 3.46546540 |
| 3 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.04179916 |
| 4 | Olfactory transduction_Homo sapiens_hsa04740 | 3.02950717 |
| 5 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.56883115 |
| 6 | RNA transport_Homo sapiens_hsa03013 | 2.55573962 |
| 7 | Proteasome_Homo sapiens_hsa03050 | 2.35099984 |
| 8 | Homologous recombination_Homo sapiens_hsa03440 | 2.13713982 |
| 9 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.09307675 |
| 10 | Parkinsons disease_Homo sapiens_hsa05012 | 1.90684973 |
| 11 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.88246403 |
| 12 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.87852624 |
| 13 | Huntingtons disease_Homo sapiens_hsa05016 | 1.87030413 |
| 14 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.81190623 |
| 15 | RNA degradation_Homo sapiens_hsa03018 | 1.75127031 |
| 16 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.66002539 |
| 17 | Phototransduction_Homo sapiens_hsa04744 | 1.61790481 |
| 18 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.61124324 |
| 19 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.60446652 |
| 20 | ABC transporters_Homo sapiens_hsa02010 | 1.54815312 |
| 21 | Retinol metabolism_Homo sapiens_hsa00830 | 1.43954220 |
| 22 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.41172222 |
| 23 | Mismatch repair_Homo sapiens_hsa03430 | 1.40097365 |
| 24 | RNA polymerase_Homo sapiens_hsa03020 | 1.40023078 |
| 25 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.38283485 |
| 26 | Protein export_Homo sapiens_hsa03060 | 1.37437297 |
| 27 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.35697209 |
| 28 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.35057263 |
| 29 | Ribosome_Homo sapiens_hsa03010 | 1.30318390 |
| 30 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.28451130 |
| 31 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.28043240 |
| 32 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.24742698 |
| 33 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.23756136 |
| 34 | Basal cell carcinoma_Homo sapiens_hsa05217 | 1.23025791 |
| 35 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.16717385 |
| 36 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.12421677 |
| 37 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.12362814 |
| 38 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.09721163 |
| 39 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.08264496 |
| 40 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.04735663 |
| 41 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.03523297 |
| 42 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.03152766 |
| 43 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.01566158 |
| 44 | Wnt signaling pathway_Homo sapiens_hsa04310 | 1.00734319 |
| 45 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.99994570 |
| 46 | Tight junction_Homo sapiens_hsa04530 | 0.99164872 |
| 47 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.97954668 |
| 48 | Cell cycle_Homo sapiens_hsa04110 | 0.97685647 |
| 49 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.96633822 |
| 50 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.90348899 |
| 51 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.89549774 |
| 52 | Alzheimers disease_Homo sapiens_hsa05010 | 0.88525146 |
| 53 | Taste transduction_Homo sapiens_hsa04742 | 0.88090773 |
| 54 | Peroxisome_Homo sapiens_hsa04146 | 0.87343860 |
| 55 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.85775518 |
| 56 | Purine metabolism_Homo sapiens_hsa00230 | 0.85362956 |
| 57 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.84189889 |
| 58 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.82942149 |
| 59 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.82831724 |
| 60 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.82080559 |
| 61 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.81350971 |
| 62 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.79559917 |
| 63 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.77346628 |
| 64 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.76974691 |
| 65 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.75614261 |
| 66 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.75453153 |
| 67 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.72727731 |
| 68 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.71309261 |
| 69 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.69797349 |
| 70 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.69446066 |
| 71 | Lysine degradation_Homo sapiens_hsa00310 | 0.68372700 |
| 72 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.67144618 |
| 73 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.66119744 |
| 74 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.65229187 |
| 75 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.60930015 |
| 76 | Nicotine addiction_Homo sapiens_hsa05033 | 0.58895376 |
| 77 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.58043222 |
| 78 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.57691948 |
| 79 | Legionellosis_Homo sapiens_hsa05134 | 0.57084687 |
| 80 | Metabolic pathways_Homo sapiens_hsa01100 | 0.56496179 |
| 81 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.53301590 |
| 82 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.52380955 |
| 83 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.50689616 |
| 84 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.50335828 |
| 85 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.45560329 |
| 86 | Adherens junction_Homo sapiens_hsa04520 | 0.45452399 |
| 87 | Spliceosome_Homo sapiens_hsa03040 | 0.44558211 |
| 88 | Histidine metabolism_Homo sapiens_hsa00340 | 0.42880089 |
| 89 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.42800935 |
| 90 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.42626348 |
| 91 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.41719856 |
| 92 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.41203612 |
| 93 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.40502232 |
| 94 | Base excision repair_Homo sapiens_hsa03410 | 0.40321466 |
| 95 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.39397016 |
| 96 | Bile secretion_Homo sapiens_hsa04976 | 0.36922198 |
| 97 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.35971321 |
| 98 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.34614674 |
| 99 | DNA replication_Homo sapiens_hsa03030 | 0.32750235 |
| 100 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.30230315 |

