

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | male meiosis I (GO:0007141) | 9.98573155 |
| 2 | chromosome organization involved in meiosis (GO:0070192) | 8.75087150 |
| 3 | male meiosis (GO:0007140) | 8.71439223 |
| 4 | DNA methylation involved in gamete generation (GO:0043046) | 8.55175866 |
| 5 | acrosome reaction (GO:0007340) | 8.24462491 |
| 6 | sperm motility (GO:0030317) | 8.18255411 |
| 7 | meiosis I (GO:0007127) | 7.87567528 |
| 8 | synaptonemal complex assembly (GO:0007130) | 7.75562533 |
| 9 | meiotic nuclear division (GO:0007126) | 7.41947405 |
| 10 | chromosome condensation (GO:0030261) | 7.24373609 |
| 11 | DNA packaging (GO:0006323) | 7.23347512 |
| 12 | synaptonemal complex organization (GO:0070193) | 6.99518402 |
| 13 | fusion of sperm to egg plasma membrane (GO:0007342) | 6.82227162 |
| 14 | histone H3-K9 demethylation (GO:0033169) | 6.64563305 |
| 15 | spermatid development (GO:0007286) | 6.62898984 |
| 16 | binding of sperm to zona pellucida (GO:0007339) | 6.52505231 |
| 17 | sister chromatid cohesion (GO:0007062) | 6.31853663 |
| 18 | sperm-egg recognition (GO:0035036) | 6.29498077 |
| 19 | positive regulation of meiosis (GO:0045836) | 6.20808514 |
| 20 | negative regulation of inclusion body assembly (GO:0090084) | 6.18437436 |
| 21 | single strand break repair (GO:0000012) | 6.04066294 |
| 22 | DNA synthesis involved in DNA repair (GO:0000731) | 5.88335046 |
| 23 | positive regulation of meiotic cell cycle (GO:0051446) | 5.82003629 |
| 24 | meiotic cell cycle process (GO:1903046) | 5.75109482 |
| 25 | spermatogenesis (GO:0007283) | 5.62767229 |
| 26 | protein targeting to Golgi (GO:0000042) | 5.62232884 |
| 27 | male gamete generation (GO:0048232) | 5.61212859 |
| 28 | microtubule severing (GO:0051013) | 5.52275806 |
| 29 | establishment of protein localization to Golgi (GO:0072600) | 5.44651504 |
| 30 | protein polyglutamylation (GO:0018095) | 5.43078552 |
| 31 | microtubule depolymerization (GO:0007019) | 5.29681514 |
| 32 | gamete generation (GO:0007276) | 5.27396916 |
| 33 | sperm capacitation (GO:0048240) | 5.25802062 |
| 34 | plasma membrane fusion (GO:0045026) | 5.12598148 |
| 35 | rRNA methylation (GO:0031167) | 5.12256257 |
| 36 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.10156905 |
| 37 | germ cell development (GO:0007281) | 5.08632082 |
| 38 | cell-cell recognition (GO:0009988) | 5.08000284 |
| 39 | negative regulation of meiosis (GO:0045835) | 4.95834721 |
| 40 | regulation of centriole replication (GO:0046599) | 4.95476313 |
| 41 | meiotic chromosome segregation (GO:0045132) | 4.93118746 |
| 42 | spermatid nucleus differentiation (GO:0007289) | 4.86202861 |
| 43 | histone H3-K36 demethylation (GO:0070544) | 4.85362639 |
| 44 | multicellular organism reproduction (GO:0032504) | 4.82627296 |
| 45 | centriole replication (GO:0007099) | 4.71208762 |
| 46 | sex differentiation (GO:0007548) | 4.65703510 |
| 47 | microtubule polymerization or depolymerization (GO:0031109) | 4.56715710 |
| 48 | fertilization (GO:0009566) | 4.55053143 |
| 49 | rRNA modification (GO:0000154) | 4.49847481 |
| 50 | oogenesis (GO:0048477) | 4.42214440 |
| 51 | reproduction (GO:0000003) | 4.41707469 |
| 52 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.34704583 |
| 53 | protein localization to Golgi apparatus (GO:0034067) | 4.33550538 |
| 54 | regulation of cilium movement (GO:0003352) | 4.32704209 |
| 55 | response to pheromone (GO:0019236) | 4.29855537 |
| 56 | centriole assembly (GO:0098534) | 4.24727751 |
| 57 | calcium ion-dependent exocytosis (GO:0017156) | 4.23194495 |
| 58 | regulation of histone H3-K9 methylation (GO:0051570) | 4.22041247 |
| 59 | axonemal dynein complex assembly (GO:0070286) | 4.18306368 |
| 60 | multicellular organismal reproductive process (GO:0048609) | 4.17761272 |
| 61 | reciprocal DNA recombination (GO:0035825) | 4.12440489 |
| 62 | reciprocal meiotic recombination (GO:0007131) | 4.12440489 |
| 63 | negative regulation of gene silencing (GO:0060969) | 4.11384101 |
| 64 | male sex determination (GO:0030238) | 4.10289252 |
| 65 | female gamete generation (GO:0007292) | 4.01284959 |
| 66 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.98861945 |
| 67 | regulation of inclusion body assembly (GO:0090083) | 3.96770442 |
| 68 | sexual reproduction (GO:0019953) | 3.95803735 |
| 69 | resolution of meiotic recombination intermediates (GO:0000712) | 3.90168646 |
| 70 | regulation of microtubule-based movement (GO:0060632) | 3.84588681 |
| 71 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 3.82013694 |
| 72 | nuclear pore complex assembly (GO:0051292) | 3.81457906 |
| 73 | nucleus organization (GO:0006997) | 3.79980693 |
| 74 | mitotic sister chromatid cohesion (GO:0007064) | 3.75201184 |
| 75 | motile cilium assembly (GO:0044458) | 3.74315801 |
| 76 | seminiferous tubule development (GO:0072520) | 3.73999247 |
| 77 | single fertilization (GO:0007338) | 3.70070255 |
| 78 | gene silencing by RNA (GO:0031047) | 3.60229154 |
| 79 | regulation of meiotic cell cycle (GO:0051445) | 3.54460619 |
| 80 | phosphatidylethanolamine metabolic process (GO:0046337) | 3.53574569 |
| 81 | embryonic body morphogenesis (GO:0010172) | 3.52231680 |
| 82 | microtubule nucleation (GO:0007020) | 3.48257002 |
| 83 | DNA methylation (GO:0006306) | 3.44275404 |
| 84 | DNA alkylation (GO:0006305) | 3.44275404 |
| 85 | negative regulation of meiotic cell cycle (GO:0051447) | 3.38657224 |
| 86 | positive regulation of male gonad development (GO:2000020) | 3.38235906 |
| 87 | regulation of meiosis (GO:0040020) | 3.31147372 |
| 88 | oocyte development (GO:0048599) | 3.29484399 |
| 89 | gene silencing (GO:0016458) | 3.28003036 |
| 90 | histone exchange (GO:0043486) | 3.21745390 |
| 91 | response to acidic pH (GO:0010447) | 3.19021516 |
| 92 | epithelial cilium movement (GO:0003351) | 3.18927652 |
| 93 | Sertoli cell development (GO:0060009) | 3.14230623 |
| 94 | RNA destabilization (GO:0050779) | 3.08558083 |
| 95 | histone lysine demethylation (GO:0070076) | 3.08526149 |
| 96 | positive regulation of Rab GTPase activity (GO:0032851) | 3.05882948 |
| 97 | regulation of Rab GTPase activity (GO:0032313) | 3.05882948 |
| 98 | regulation of meiosis I (GO:0060631) | 10.9460866 |
| 99 | piRNA metabolic process (GO:0034587) | 10.5405796 |
| 100 | synapsis (GO:0007129) | 10.0678894 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 7.20587176 |
| 2 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 3.51222557 |
| 3 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.97417022 |
| 4 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.75761264 |
| 5 | ERA_21632823_ChIP-Seq_H3396_Human | 2.41552298 |
| 6 | FUS_26573619_Chip-Seq_HEK293_Human | 2.38004733 |
| 7 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.29793308 |
| 8 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.25501883 |
| 9 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.17103608 |
| 10 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.14282519 |
| 11 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.14282519 |
| 12 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 2.09640715 |
| 13 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 2.06086827 |
| 14 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.04310725 |
| 15 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.95523220 |
| 16 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.95523220 |
| 17 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.94994736 |
| 18 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.90319258 |
| 19 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.82896076 |
| 20 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.80961899 |
| 21 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.78495027 |
| 22 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.74025304 |
| 23 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.73226087 |
| 24 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.71441808 |
| 25 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.71396999 |
| 26 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.70903349 |
| 27 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.67390517 |
| 28 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.65424763 |
| 29 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.64340167 |
| 30 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.64115520 |
| 31 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.63107891 |
| 32 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.62752439 |
| 33 | P68_20966046_ChIP-Seq_HELA_Human | 1.62059109 |
| 34 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.57325818 |
| 35 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.56769654 |
| 36 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.54387513 |
| 37 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.53938315 |
| 38 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.51814038 |
| 39 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.50345802 |
| 40 | * MYC_19829295_ChIP-Seq_ESCs_Human | 1.50253349 |
| 41 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.50210129 |
| 42 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.47793115 |
| 43 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.46074789 |
| 44 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.43596438 |
| 45 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.40364264 |
| 46 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.38312356 |
| 47 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.37305344 |
| 48 | P300_27268052_Chip-Seq_Bcells_Human | 1.35735420 |
| 49 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.35402544 |
| 50 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.34686775 |
| 51 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.33792545 |
| 52 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.33641789 |
| 53 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.31444478 |
| 54 | AR_25329375_ChIP-Seq_VCAP_Human | 1.29634849 |
| 55 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.29143255 |
| 56 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.27297199 |
| 57 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.25559494 |
| 58 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.24998532 |
| 59 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.24540747 |
| 60 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.23736335 |
| 61 | P300_19829295_ChIP-Seq_ESCs_Human | 1.23125848 |
| 62 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.22524855 |
| 63 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.21845484 |
| 64 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.21527782 |
| 65 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.20973601 |
| 66 | * FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.20833247 |
| 67 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.20579318 |
| 68 | GATA3_26560356_Chip-Seq_TH1_Human | 1.15395856 |
| 69 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.14711588 |
| 70 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.14489927 |
| 71 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.13829427 |
| 72 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.13529682 |
| 73 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.12845332 |
| 74 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.11848970 |
| 75 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 1.11476081 |
| 76 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.10551996 |
| 77 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.10213030 |
| 78 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 1.08495661 |
| 79 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.08490776 |
| 80 | STAT3_23295773_ChIP-Seq_U87_Human | 1.08209017 |
| 81 | NFYB_21822215_ChIP-Seq_K562_Human | 1.07759379 |
| 82 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.07548896 |
| 83 | TBL1_22424771_ChIP-Seq_293T_Human | 1.07256316 |
| 84 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.07101595 |
| 85 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.06608123 |
| 86 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.06521587 |
| 87 | OCT4_19829295_ChIP-Seq_ESCs_Human | 1.05720057 |
| 88 | BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human | 1.04763780 |
| 89 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.04513128 |
| 90 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.03225633 |
| 91 | E2F7_22180533_ChIP-Seq_HELA_Human | 1.02957998 |
| 92 | SOX11_22085726_ChIP-Seq_ESNs_Mouse | 1.02861304 |
| 93 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.02414004 |
| 94 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.02091441 |
| 95 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.00024340 |
| 96 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 0.99089946 |
| 97 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 0.99089946 |
| 98 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.98492252 |
| 99 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 0.97837468 |
| 100 | KLF4_19829295_ChIP-Seq_ESCs_Human | 0.97683069 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 8.66765167 |
| 2 | MP0008877_abnormal_DNA_methylation | 7.06666203 |
| 3 | MP0001929_abnormal_gametogenesis | 5.04185174 |
| 4 | MP0003698_abnormal_male_reproductive | 4.93605739 |
| 5 | MP0002210_abnormal_sex_determination | 4.29600677 |
| 6 | MP0001145_abnormal_male_reproductive | 3.26444082 |
| 7 | MP0005377_hearing/vestibular/ear_phenot | 3.10290032 |
| 8 | MP0003878_abnormal_ear_physiology | 3.10290032 |
| 9 | MP0000653_abnormal_sex_gland | 3.00599062 |
| 10 | MP0002161_abnormal_fertility/fecundity | 2.67412517 |
| 11 | MP0000678_abnormal_parathyroid_gland | 2.65839505 |
| 12 | MP0005670_abnormal_white_adipose | 2.64173926 |
| 13 | MP0001348_abnormal_lacrimal_gland | 2.55803141 |
| 14 | MP0003646_muscle_fatigue | 2.40988184 |
| 15 | MP0002160_abnormal_reproductive_system | 2.33187754 |
| 16 | MP0008058_abnormal_DNA_repair | 1.94191127 |
| 17 | MP0000015_abnormal_ear_pigmentation | 1.80548354 |
| 18 | MP0002254_reproductive_system_inflammat | 1.75217431 |
| 19 | MP0008004_abnormal_stomach_pH | 1.68263664 |
| 20 | MP0000569_abnormal_digit_pigmentation | 1.67365338 |
| 21 | MP0008995_early_reproductive_senescence | 1.60379666 |
| 22 | MP0005310_abnormal_salivary_gland | 1.53957665 |
| 23 | MP0003718_maternal_effect | 1.53029442 |
| 24 | MP0005389_reproductive_system_phenotype | 1.48311260 |
| 25 | MP0005174_abnormal_tail_pigmentation | 1.47750865 |
| 26 | MP0005409_darkened_coat_color | 1.41899344 |
| 27 | MP0001119_abnormal_female_reproductive | 1.36529030 |
| 28 | MP0000383_abnormal_hair_follicle | 1.30789227 |
| 29 | MP0003693_abnormal_embryo_hatching | 1.27751618 |
| 30 | MP0005666_abnormal_adipose_tissue | 1.25695247 |
| 31 | MP0000427_abnormal_hair_cycle | 1.20590406 |
| 32 | MP0003011_delayed_dark_adaptation | 1.18264061 |
| 33 | MP0003936_abnormal_reproductive_system | 1.16636749 |
| 34 | MP0004742_abnormal_vestibular_system | 1.15028570 |
| 35 | MP0001486_abnormal_startle_reflex | 1.11386442 |
| 36 | MP0003699_abnormal_female_reproductive | 1.09983998 |
| 37 | MP0003077_abnormal_cell_cycle | 1.08092146 |
| 38 | MP0002249_abnormal_larynx_morphology | 1.06469700 |
| 39 | MP0008789_abnormal_olfactory_epithelium | 1.05382135 |
| 40 | MP0004233_abnormal_muscle_weight | 1.00828017 |
| 41 | MP0006276_abnormal_autonomic_nervous | 1.00458026 |
| 42 | MP0003119_abnormal_digestive_system | 0.97283318 |
| 43 | MP0005423_abnormal_somatic_nervous | 0.95972081 |
| 44 | MP0001984_abnormal_olfaction | 0.94161650 |
| 45 | MP0002282_abnormal_trachea_morphology | 0.93917620 |
| 46 | MP0001485_abnormal_pinna_reflex | 0.93053283 |
| 47 | MP0002132_abnormal_respiratory_system | 0.92427599 |
| 48 | MP0002184_abnormal_innervation | 0.91162764 |
| 49 | MP0005167_abnormal_blood-brain_barrier | 0.90921089 |
| 50 | MP0005379_endocrine/exocrine_gland_phen | 0.88988868 |
| 51 | MP0005645_abnormal_hypothalamus_physiol | 0.87006627 |
| 52 | MP0002653_abnormal_ependyma_morphology | 0.86920071 |
| 53 | MP0005499_abnormal_olfactory_system | 0.86611651 |
| 54 | MP0005394_taste/olfaction_phenotype | 0.86611651 |
| 55 | MP0005551_abnormal_eye_electrophysiolog | 0.75185056 |
| 56 | MP0008007_abnormal_cellular_replicative | 0.74192632 |
| 57 | MP0009053_abnormal_anal_canal | 0.70807908 |
| 58 | MP0005375_adipose_tissue_phenotype | 0.70561693 |
| 59 | MP0005451_abnormal_body_composition | 0.69187851 |
| 60 | MP0001963_abnormal_hearing_physiology | 0.68966916 |
| 61 | MP0009115_abnormal_fat_cell | 0.67387754 |
| 62 | MP0000955_abnormal_spinal_cord | 0.66734263 |
| 63 | MP0001968_abnormal_touch/_nociception | 0.66691705 |
| 64 | MP0006035_abnormal_mitochondrial_morpho | 0.66116320 |
| 65 | MP0003879_abnormal_hair_cell | 0.64627778 |
| 66 | MP0002229_neurodegeneration | 0.64533872 |
| 67 | MP0005647_abnormal_sex_gland | 0.64511920 |
| 68 | MP0010678_abnormal_skin_adnexa | 0.63727846 |
| 69 | MP0002735_abnormal_chemical_nociception | 0.62604167 |
| 70 | MP0002971_abnormal_brown_adipose | 0.61734096 |
| 71 | MP0002067_abnormal_sensory_capabilities | 0.61195001 |
| 72 | MP0001919_abnormal_reproductive_system | 0.60731859 |
| 73 | MP0008057_abnormal_DNA_replication | 0.59320108 |
| 74 | MP0002127_abnormal_cardiovascular_syste | 0.59061015 |
| 75 | MP0002095_abnormal_skin_pigmentation | 0.57657987 |
| 76 | MP0010386_abnormal_urinary_bladder | 0.53386957 |
| 77 | MP0002138_abnormal_hepatobiliary_system | 0.53364617 |
| 78 | MP0005253_abnormal_eye_physiology | 0.53342008 |
| 79 | MP0010094_abnormal_chromosome_stability | 0.53260535 |
| 80 | MP0001765_abnormal_ion_homeostasis | 0.50336047 |
| 81 | MP0000026_abnormal_inner_ear | 0.48916129 |
| 82 | MP0001661_extended_life_span | 0.47230135 |
| 83 | MP0000470_abnormal_stomach_morphology | 0.46425252 |
| 84 | MP0006292_abnormal_olfactory_placode | 0.45315856 |
| 85 | MP0000681_abnormal_thyroid_gland | 0.43623639 |
| 86 | MP0003861_abnormal_nervous_system | 0.43303561 |
| 87 | MP0004811_abnormal_neuron_physiology | 0.42772588 |
| 88 | MP0002882_abnormal_neuron_morphology | 0.41613737 |
| 89 | MP0004264_abnormal_extraembryonic_tissu | 0.40975779 |
| 90 | MP0002084_abnormal_developmental_patter | 0.40472454 |
| 91 | MP0005535_abnormal_body_temperature | 0.39608114 |
| 92 | MP0005058_abnormal_lysosome_morphology | 0.39561638 |
| 93 | MP0003943_abnormal_hepatobiliary_system | 0.39521992 |
| 94 | MP0004019_abnormal_vitamin_homeostasis | 0.38499704 |
| 95 | MP0003172_abnormal_lysosome_physiology | 0.38241392 |
| 96 | MP0010307_abnormal_tumor_latency | 0.38142195 |
| 97 | MP0009046_muscle_twitch | 0.37515646 |
| 98 | MP0001188_hyperpigmentation | 0.37003565 |
| 99 | MP0002932_abnormal_joint_morphology | 0.36629037 |
| 100 | MP0004036_abnormal_muscle_relaxation | 0.36402376 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Tubulointerstitial nephritis (HP:0001970) | 5.33034865 |
| 2 | Severe visual impairment (HP:0001141) | 5.17718041 |
| 3 | Osteomalacia (HP:0002749) | 4.42149713 |
| 4 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 4.33566700 |
| 5 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 4.33566700 |
| 6 | Neonatal short-limb short stature (HP:0008921) | 4.24099100 |
| 7 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 4.01396761 |
| 8 | Absent/shortened dynein arms (HP:0200106) | 4.01396761 |
| 9 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.74734656 |
| 10 | Horizontal nystagmus (HP:0000666) | 3.67845775 |
| 11 | Oligodactyly (hands) (HP:0001180) | 3.66783100 |
| 12 | Upper motor neuron abnormality (HP:0002127) | 3.62518729 |
| 13 | Chronic hepatic failure (HP:0100626) | 3.61351931 |
| 14 | Abnormality of macular pigmentation (HP:0008002) | 3.61296870 |
| 15 | Abnormality of the lower motor neuron (HP:0002366) | 3.59097999 |
| 16 | Abnormality of the corticospinal tract (HP:0002492) | 3.58039098 |
| 17 | Volvulus (HP:0002580) | 3.50751287 |
| 18 | Resting tremor (HP:0002322) | 3.50193581 |
| 19 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.42454958 |
| 20 | Amyotrophic lateral sclerosis (HP:0007354) | 3.37791775 |
| 21 | Azoospermia (HP:0000027) | 3.34219810 |
| 22 | Infertility (HP:0000789) | 3.30044147 |
| 23 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.25554103 |
| 24 | Nephronophthisis (HP:0000090) | 3.22644390 |
| 25 | Abnormal ciliary motility (HP:0012262) | 3.14281922 |
| 26 | Rimmed vacuoles (HP:0003805) | 3.12952446 |
| 27 | Shoulder girdle muscle weakness (HP:0003547) | 3.11835300 |
| 28 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.10383357 |
| 29 | Truncal obesity (HP:0001956) | 3.08311937 |
| 30 | Natal tooth (HP:0000695) | 3.07833769 |
| 31 | Hyperkalemia (HP:0002153) | 3.00440926 |
| 32 | Asymmetric septal hypertrophy (HP:0001670) | 2.99874124 |
| 33 | Impaired vibration sensation in the lower limbs (HP:0002166) | 2.99217770 |
| 34 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.96797229 |
| 35 | Abnormal spermatogenesis (HP:0008669) | 2.91487723 |
| 36 | Gonadotropin excess (HP:0000837) | 2.86319994 |
| 37 | Stage 5 chronic kidney disease (HP:0003774) | 2.85111646 |
| 38 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 2.81766812 |
| 39 | Abnormality of the renal medulla (HP:0100957) | 2.79854682 |
| 40 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.77324957 |
| 41 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.77324957 |
| 42 | Attenuation of retinal blood vessels (HP:0007843) | 2.76174167 |
| 43 | Male infertility (HP:0003251) | 2.71633691 |
| 44 | Tubulointerstitial abnormality (HP:0001969) | 2.68484315 |
| 45 | Nasal polyposis (HP:0100582) | 2.64345730 |
| 46 | Menstrual irregularities (HP:0000858) | 2.61747763 |
| 47 | Facial cleft (HP:0002006) | 2.59797178 |
| 48 | Bell-shaped thorax (HP:0001591) | 2.52621119 |
| 49 | Scotoma (HP:0000575) | 2.49568845 |
| 50 | Sensory axonal neuropathy (HP:0003390) | 2.42510287 |
| 51 | Synostosis of carpal bones (HP:0005048) | 2.38879498 |
| 52 | Intellectual disability, moderate (HP:0002342) | 2.35989576 |
| 53 | Oligodactyly (HP:0012165) | 2.31164107 |
| 54 | Tubular atrophy (HP:0000092) | 2.29244608 |
| 55 | Type I transferrin isoform profile (HP:0003642) | 2.26984344 |
| 56 | Amelogenesis imperfecta (HP:0000705) | 2.26372112 |
| 57 | Progressive sensorineural hearing impairment (HP:0000408) | 2.20975649 |
| 58 | Cone-rod dystrophy (HP:0000548) | 2.20261623 |
| 59 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.18016306 |
| 60 | Supernumerary spleens (HP:0009799) | 2.16755216 |
| 61 | Impulsivity (HP:0100710) | 2.13407715 |
| 62 | Abnormality of the nasal mucosa (HP:0000433) | 2.11137960 |
| 63 | Enlarged epiphyses (HP:0010580) | 2.10141273 |
| 64 | Abnormality of dental color (HP:0011073) | 2.05940509 |
| 65 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 2.05043603 |
| 66 | Abnormal protein N-linked glycosylation (HP:0012347) | 2.05043603 |
| 67 | Abnormal protein glycosylation (HP:0012346) | 2.05043603 |
| 68 | Abnormal glycosylation (HP:0012345) | 2.05043603 |
| 69 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 2.02454873 |
| 70 | Duodenal stenosis (HP:0100867) | 2.02050578 |
| 71 | Small intestinal stenosis (HP:0012848) | 2.02050578 |
| 72 | Spontaneous abortion (HP:0005268) | 2.01704404 |
| 73 | Impaired vibratory sensation (HP:0002495) | 1.98407294 |
| 74 | Hyperuricemia (HP:0002149) | 1.95125117 |
| 75 | Increased purine levels (HP:0004368) | 1.95125117 |
| 76 | Atelectasis (HP:0100750) | 1.95020211 |
| 77 | Hand muscle atrophy (HP:0009130) | 1.94307559 |
| 78 | Short nail (HP:0001799) | 1.93708870 |
| 79 | Atrophy/Degeneration involving motor neurons (HP:0007373) | 1.92470094 |
| 80 | Complete atrioventricular canal defect (HP:0001674) | 1.92129981 |
| 81 | Postural instability (HP:0002172) | 1.91254225 |
| 82 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.90953275 |
| 83 | Abnormality of renal excretion (HP:0011036) | 1.89443713 |
| 84 | Occipital encephalocele (HP:0002085) | 1.88738363 |
| 85 | Abnormality of DNA repair (HP:0003254) | 1.88351182 |
| 86 | Urinary bladder sphincter dysfunction (HP:0002839) | 1.88140318 |
| 87 | Ectopic kidney (HP:0000086) | 1.88108334 |
| 88 | Facial hemangioma (HP:0000329) | 1.87642160 |
| 89 | Polydipsia (HP:0001959) | 1.87499604 |
| 90 | Abnormal drinking behavior (HP:0030082) | 1.87499604 |
| 91 | Progressive cerebellar ataxia (HP:0002073) | 1.86588846 |
| 92 | Congenital malformation of the right heart (HP:0011723) | 1.85713121 |
| 93 | Double outlet right ventricle (HP:0001719) | 1.85713121 |
| 94 | Abnormality of the epiphyses of the phalanges of the hand (HP:0005920) | 1.85001743 |
| 95 | Urinary urgency (HP:0000012) | 1.84915296 |
| 96 | Rhinitis (HP:0012384) | 1.83651814 |
| 97 | Abnormal urine output (HP:0012590) | 1.81165064 |
| 98 | Male pseudohermaphroditism (HP:0000037) | 1.74711282 |
| 99 | Chronic bronchitis (HP:0004469) | 1.74124094 |
| 100 | Buphthalmos (HP:0000557) | 1.73155401 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PNCK | 9.79526294 |
| 2 | PLK4 | 6.37620921 |
| 3 | CAMK1G | 4.12404912 |
| 4 | CDK19 | 3.53627725 |
| 5 | MET | 3.33359596 |
| 6 | INSRR | 2.69657230 |
| 7 | PTK2B | 2.58102133 |
| 8 | PLK2 | 2.50855206 |
| 9 | TESK1 | 2.16827753 |
| 10 | BMX | 1.94606276 |
| 11 | PDK2 | 1.84766244 |
| 12 | BRD4 | 1.82997952 |
| 13 | STK38 | 1.63876833 |
| 14 | FGR | 1.54912250 |
| 15 | MST1R | 1.54110208 |
| 16 | CSF1R | 1.47859503 |
| 17 | OXSR1 | 1.32044719 |
| 18 | DDR2 | 1.31436675 |
| 19 | STK38L | 1.30872717 |
| 20 | PDPK1 | 1.27519369 |
| 21 | PDK1 | 1.25431867 |
| 22 | PINK1 | 1.25239219 |
| 23 | WNK1 | 1.15028231 |
| 24 | MAP4K2 | 1.10298043 |
| 25 | TYRO3 | 1.07749393 |
| 26 | MAP3K11 | 1.06673482 |
| 27 | PIK3CG | 1.03626679 |
| 28 | BRAF | 1.02635782 |
| 29 | LATS1 | 0.94634697 |
| 30 | PDGFRB | 0.89878768 |
| 31 | ACVR1B | 0.85494054 |
| 32 | MINK1 | 0.83339779 |
| 33 | NEK6 | 0.81647129 |
| 34 | MAP2K2 | 0.76862546 |
| 35 | BMPR1B | 0.73712977 |
| 36 | CHEK1 | 0.71612660 |
| 37 | CAMK1 | 0.71379573 |
| 38 | MAP3K10 | 0.69050415 |
| 39 | PLK1 | 0.68768656 |
| 40 | CDK7 | 0.66034876 |
| 41 | MARK3 | 0.63536055 |
| 42 | RET | 0.63186839 |
| 43 | CDK4 | 0.62570303 |
| 44 | TLK1 | 0.59002770 |
| 45 | MAP3K9 | 0.56894282 |
| 46 | PASK | 0.55221256 |
| 47 | PRKD3 | 0.53210643 |
| 48 | ZAK | 0.52826567 |
| 49 | MAP3K4 | 0.52385156 |
| 50 | SGK1 | 0.51342154 |
| 51 | MAP3K2 | 0.51044661 |
| 52 | CDK3 | 0.49742892 |
| 53 | NTRK3 | 0.48195622 |
| 54 | RPS6KA1 | 0.46879684 |
| 55 | MAPK15 | 0.45490702 |
| 56 | DYRK1B | 0.45301561 |
| 57 | RPS6KA2 | 0.44971894 |
| 58 | PRKG1 | 0.42154510 |
| 59 | CDK1 | 0.38728331 |
| 60 | ATR | 0.35516995 |
| 61 | CDK2 | 0.35417748 |
| 62 | BRSK1 | 0.34852006 |
| 63 | WEE1 | 0.33591516 |
| 64 | MAPK1 | 0.32184273 |
| 65 | ATM | 0.31647956 |
| 66 | ROCK1 | 0.30640895 |
| 67 | MTOR | 0.30474952 |
| 68 | AURKA | 0.30387950 |
| 69 | YES1 | 0.29412847 |
| 70 | RPS6KA6 | 0.29079344 |
| 71 | EGFR | 0.28982645 |
| 72 | KSR2 | 0.27334426 |
| 73 | RPS6KL1 | 0.26376204 |
| 74 | RPS6KC1 | 0.26376204 |
| 75 | GSK3B | 0.25404120 |
| 76 | TNK2 | 0.25395011 |
| 77 | TTK | 0.24682286 |
| 78 | DYRK2 | 0.24088989 |
| 79 | MAP3K13 | 0.23288602 |
| 80 | CSNK1E | 0.22977787 |
| 81 | DYRK3 | 0.22705703 |
| 82 | CASK | 0.22242936 |
| 83 | ARAF | 0.21169072 |
| 84 | CDK11A | 0.19880894 |
| 85 | AKT2 | 0.19373545 |
| 86 | STK11 | 0.19177440 |
| 87 | MAPK14 | 0.18711881 |
| 88 | LATS2 | 0.18565635 |
| 89 | CDK9 | 0.18358125 |
| 90 | PRKCI | 0.18035318 |
| 91 | CDK12 | 0.17426246 |
| 92 | RPS6KB1 | 0.16317574 |
| 93 | MAP3K1 | 0.16167841 |
| 94 | TIE1 | 0.15648574 |
| 95 | NEK2 | 0.15630629 |
| 96 | CDK5 | 0.12177176 |
| 97 | STK16 | 0.11981407 |
| 98 | PRKCZ | 0.11763046 |
| 99 | PRKCG | 0.11671839 |
| 100 | CDK6 | 0.11447055 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.64682005 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.46027430 |
| 3 | RNA transport_Homo sapiens_hsa03013 | 4.27975386 |
| 4 | Homologous recombination_Homo sapiens_hsa03440 | 3.71037879 |
| 5 | Olfactory transduction_Homo sapiens_hsa04740 | 3.45714878 |
| 6 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 3.16528759 |
| 7 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.85390345 |
| 8 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.64526674 |
| 9 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 2.42146566 |
| 10 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 2.37893458 |
| 11 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 2.37232228 |
| 12 | Base excision repair_Homo sapiens_hsa03410 | 2.06583420 |
| 13 | Sulfur relay system_Homo sapiens_hsa04122 | 2.03887003 |
| 14 | DNA replication_Homo sapiens_hsa03030 | 1.92907408 |
| 15 | Mismatch repair_Homo sapiens_hsa03430 | 1.92854897 |
| 16 | Cell cycle_Homo sapiens_hsa04110 | 1.88600567 |
| 17 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.73132484 |
| 18 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.70374450 |
| 19 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.64464393 |
| 20 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.62459313 |
| 21 | RNA degradation_Homo sapiens_hsa03018 | 1.58186805 |
| 22 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.52134800 |
| 23 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.51888160 |
| 24 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.48640328 |
| 25 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.36710941 |
| 26 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.36348928 |
| 27 | Basal transcription factors_Homo sapiens_hsa03022 | 1.32156545 |
| 28 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.29465878 |
| 29 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.09835078 |
| 30 | Taste transduction_Homo sapiens_hsa04742 | 1.07849365 |
| 31 | ErbB signaling pathway_Homo sapiens_hsa04012 | 1.07179587 |
| 32 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.05587728 |
| 33 | Allograft rejection_Homo sapiens_hsa05330 | 1.04045500 |
| 34 | Viral myocarditis_Homo sapiens_hsa05416 | 1.02056784 |
| 35 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.95771977 |
| 36 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.94643236 |
| 37 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.90570490 |
| 38 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.89566913 |
| 39 | Endocytosis_Homo sapiens_hsa04144 | 0.88253533 |
| 40 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.88023834 |
| 41 | Lysine degradation_Homo sapiens_hsa00310 | 0.87762124 |
| 42 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.87381716 |
| 43 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.84095206 |
| 44 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.83420167 |
| 45 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.82389072 |
| 46 | Phototransduction_Homo sapiens_hsa04744 | 0.80987945 |
| 47 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.80708021 |
| 48 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.79957953 |
| 49 | Huntingtons disease_Homo sapiens_hsa05016 | 0.79831298 |
| 50 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.78805515 |
| 51 | ABC transporters_Homo sapiens_hsa02010 | 0.78649394 |
| 52 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.77770012 |
| 53 | Influenza A_Homo sapiens_hsa05164 | 0.77611677 |
| 54 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.66259281 |
| 55 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.65341493 |
| 56 | Retinol metabolism_Homo sapiens_hsa00830 | 0.64502381 |
| 57 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.61507303 |
| 58 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.59893230 |
| 59 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.58983925 |
| 60 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.58953785 |
| 61 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.56841320 |
| 62 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.54319772 |
| 63 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.52973085 |
| 64 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.47511219 |
| 65 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.46187451 |
| 66 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.45986400 |
| 67 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.45615267 |
| 68 | Legionellosis_Homo sapiens_hsa05134 | 0.45401387 |
| 69 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.44036344 |
| 70 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.43747264 |
| 71 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.41478813 |
| 72 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.40891910 |
| 73 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.40184959 |
| 74 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.37697933 |
| 75 | Purine metabolism_Homo sapiens_hsa00230 | 0.36642760 |
| 76 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.36090523 |
| 77 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.35270516 |
| 78 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.33131259 |
| 79 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.31866117 |
| 80 | Gap junction_Homo sapiens_hsa04540 | 0.28466426 |
| 81 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.27898605 |
| 82 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.24226963 |
| 83 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.21554097 |
| 84 | Melanoma_Homo sapiens_hsa05218 | 0.21219633 |
| 85 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.19804145 |
| 86 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.18385714 |
| 87 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.17102076 |
| 88 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.14431922 |
| 89 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.14057447 |
| 90 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.13140525 |
| 91 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.12628061 |
| 92 | Spliceosome_Homo sapiens_hsa03040 | 0.12402437 |
| 93 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.12230325 |
| 94 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.12082435 |
| 95 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.11828500 |
| 96 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.10781828 |
| 97 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.10692301 |
| 98 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.10575852 |
| 99 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.09595001 |
| 100 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.09388024 |

