

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | synaptonemal complex organization (GO:0070193) | 9.73126688 |
| 2 | chromosome organization involved in meiosis (GO:0070192) | 9.58033209 |
| 3 | synapsis (GO:0007129) | 9.13216031 |
| 4 | meiosis I (GO:0007127) | 8.88407743 |
| 5 | negative regulation of retinoic acid receptor signaling pathway (GO:0048387) | 8.38145601 |
| 6 | male meiosis (GO:0007140) | 7.96024799 |
| 7 | DNA methylation involved in gamete generation (GO:0043046) | 7.67630784 |
| 8 | regulation of retinoic acid receptor signaling pathway (GO:0048385) | 7.34964596 |
| 9 | regulation of histone H3-K9 methylation (GO:0051570) | 7.24873026 |
| 10 | meiotic nuclear division (GO:0007126) | 7.14377978 |
| 11 | positive regulation of meiosis (GO:0045836) | 6.77049585 |
| 12 | DNA synthesis involved in DNA repair (GO:0000731) | 6.61878885 |
| 13 | positive regulation of meiotic cell cycle (GO:0051446) | 6.37639514 |
| 14 | regulation of acrosome reaction (GO:0060046) | 6.28274485 |
| 15 | regulation of meiosis I (GO:0060631) | 6.25070499 |
| 16 | meiotic cell cycle process (GO:1903046) | 6.15296812 |
| 17 | multicellular organism reproduction (GO:0032504) | 5.98346838 |
| 18 | histone H3-K36 demethylation (GO:0070544) | 5.67185704 |
| 19 | meiotic cell cycle (GO:0051321) | 5.41303419 |
| 20 | positive regulation of uterine smooth muscle contraction (GO:0070474) | 5.20099231 |
| 21 | oocyte development (GO:0048599) | 5.16464683 |
| 22 | histone lysine demethylation (GO:0070076) | 5.09627718 |
| 23 | sister chromatid cohesion (GO:0007062) | 5.01286909 |
| 24 | histone demethylation (GO:0016577) | 4.86234028 |
| 25 | gene silencing by RNA (GO:0031047) | 4.86132354 |
| 26 | cell wall macromolecule metabolic process (GO:0044036) | 4.67312828 |
| 27 | regulation of female receptivity (GO:0045924) | 4.57513868 |
| 28 | regulation of meiotic cell cycle (GO:0051445) | 4.57453124 |
| 29 | reciprocal meiotic recombination (GO:0007131) | 4.54685199 |
| 30 | reciprocal DNA recombination (GO:0035825) | 4.54685199 |
| 31 | positive regulation of histone H3-K4 methylation (GO:0051571) | 4.46006821 |
| 32 | regulation of meiosis (GO:0040020) | 4.40701041 |
| 33 | protein demethylation (GO:0006482) | 4.39604689 |
| 34 | protein dealkylation (GO:0008214) | 4.39604689 |
| 35 | regulation of female gonad development (GO:2000194) | 4.25675443 |
| 36 | regulation of uterine smooth muscle contraction (GO:0070472) | 4.13130870 |
| 37 | fertilization (GO:0009566) | 4.10700515 |
| 38 | meiotic chromosome segregation (GO:0045132) | 4.08413690 |
| 39 | reproduction (GO:0000003) | 3.88970985 |
| 40 | DNA alkylation (GO:0006305) | 3.88910094 |
| 41 | DNA methylation (GO:0006306) | 3.88910094 |
| 42 | binding of sperm to zona pellucida (GO:0007339) | 3.87840024 |
| 43 | female mating behavior (GO:0060180) | 3.83755458 |
| 44 | positive regulation of chemokine secretion (GO:0090197) | 3.80196217 |
| 45 | regulation of exit from mitosis (GO:0007096) | 3.76946267 |
| 46 | gonadal mesoderm development (GO:0007506) | 3.75220993 |
| 47 | glycine transport (GO:0015816) | 3.74942758 |
| 48 | sperm-egg recognition (GO:0035036) | 3.69754803 |
| 49 | single fertilization (GO:0007338) | 3.69121447 |
| 50 | positive regulation of histone methylation (GO:0031062) | 3.67573991 |
| 51 | N-terminal protein amino acid acetylation (GO:0006474) | 3.66662819 |
| 52 | female gamete generation (GO:0007292) | 3.60872853 |
| 53 | sex differentiation (GO:0007548) | 3.53369093 |
| 54 | glucosamine-containing compound catabolic process (GO:1901072) | 3.50456065 |
| 55 | resolution of meiotic recombination intermediates (GO:0000712) | 3.50444667 |
| 56 | gene silencing (GO:0016458) | 3.50266320 |
| 57 | DNA replication-dependent nucleosome organization (GO:0034723) | 3.44726919 |
| 58 | DNA replication-dependent nucleosome assembly (GO:0006335) | 3.44726919 |
| 59 | protein kinase C signaling (GO:0070528) | 3.44669846 |
| 60 | regulation of DNA endoreduplication (GO:0032875) | 3.41965959 |
| 61 | regulation of DNA methylation (GO:0044030) | 3.36366985 |
| 62 | regulation of chemokine secretion (GO:0090196) | 3.35431692 |
| 63 | mitotic chromosome condensation (GO:0007076) | 3.35020860 |
| 64 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.33464649 |
| 65 | regulation of transcription from RNA polymerase I promoter (GO:0006356) | 3.33178577 |
| 66 | regulation of cytokine production involved in inflammatory response (GO:1900015) | 3.32937839 |
| 67 | regulation of RIG-I signaling pathway (GO:0039535) | 3.28999903 |
| 68 | phosphorelay signal transduction system (GO:0000160) | 3.28924295 |
| 69 | attachment of spindle microtubules to kinetochore (GO:0008608) | 3.27734337 |
| 70 | hyperosmotic salinity response (GO:0042538) | 3.25723165 |
| 71 | negative regulation of digestive system process (GO:0060457) | 3.24697129 |
| 72 | embryonic body morphogenesis (GO:0010172) | 3.24234323 |
| 73 | positive regulation of catecholamine secretion (GO:0033605) | 3.21432495 |
| 74 | aggressive behavior (GO:0002118) | 3.16227929 |
| 75 | negative regulation of reproductive process (GO:2000242) | 3.16057394 |
| 76 | negative regulation of gene silencing (GO:0060969) | 3.11870930 |
| 77 | proteasome assembly (GO:0043248) | 3.09257946 |
| 78 | translesion synthesis (GO:0019985) | 3.06540602 |
| 79 | interkinetic nuclear migration (GO:0022027) | 3.06481856 |
| 80 | centriole replication (GO:0007099) | 3.04069934 |
| 81 | negative regulation of histone methylation (GO:0031061) | 3.03537369 |
| 82 | production of molecular mediator involved in inflammatory response (GO:0002532) | 3.03483323 |
| 83 | cell-cell recognition (GO:0009988) | 3.02437657 |
| 84 | positive regulation of digestive system process (GO:0060456) | 3.00839464 |
| 85 | phospholipase C-activating dopamine receptor signaling pathway (GO:0060158) | 3.00575893 |
| 86 | reproductive system development (GO:0061458) | 2.99070417 |
| 87 | positive regulation of prostaglandin secretion (GO:0032308) | 2.93199783 |
| 88 | epithelial cilium movement (GO:0003351) | 2.90421618 |
| 89 | spermatid development (GO:0007286) | 2.90177017 |
| 90 | regulation of histone methylation (GO:0031060) | 2.82950848 |
| 91 | microtubule severing (GO:0051013) | 2.81056672 |
| 92 | regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531) | 2.79821989 |
| 93 | DNA methylation or demethylation (GO:0044728) | 2.79629560 |
| 94 | sperm capacitation (GO:0048240) | 2.73665771 |
| 95 | nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289) | 2.72593641 |
| 96 | chromosome organization (GO:0051276) | 2.71420793 |
| 97 | histone H3-K9 demethylation (GO:0033169) | 11.4125587 |
| 98 | male meiosis I (GO:0007141) | 10.9902129 |
| 99 | synaptonemal complex assembly (GO:0007130) | 10.2937718 |
| 100 | piRNA metabolic process (GO:0034587) | 10.2498284 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 8.05869753 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.43357829 |
| 3 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 3.38255347 |
| 4 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.83704237 |
| 5 | E2F7_22180533_ChIP-Seq_HELA_Human | 2.69951436 |
| 6 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.58948849 |
| 7 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.58641144 |
| 8 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.22131033 |
| 9 | VDR_22108803_ChIP-Seq_LS180_Human | 2.21194727 |
| 10 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 2.20639007 |
| 11 | EZH2_22144423_ChIP-Seq_EOC_Human | 10.3821488 |
| 12 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.99661689 |
| 13 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.99109704 |
| 14 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.97911393 |
| 15 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.96931479 |
| 16 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.90519797 |
| 17 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.87186362 |
| 18 | TCF4_23295773_ChIP-Seq_U87_Human | 1.72255536 |
| 19 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.69978395 |
| 20 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.65151537 |
| 21 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 1.63126651 |
| 22 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 1.63126651 |
| 23 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 1.63126651 |
| 24 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.58933125 |
| 25 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.58722747 |
| 26 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.56565236 |
| 27 | AR_25329375_ChIP-Seq_VCAP_Human | 1.56537444 |
| 28 | STAT3_23295773_ChIP-Seq_U87_Human | 1.55010187 |
| 29 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.52549518 |
| 30 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.44156576 |
| 31 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.43974299 |
| 32 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.41750409 |
| 33 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.40992747 |
| 34 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.40753348 |
| 35 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.39799517 |
| 36 | NCOR_22424771_ChIP-Seq_293T_Human | 1.38050077 |
| 37 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.37312101 |
| 38 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.36765958 |
| 39 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.36640273 |
| 40 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.34174729 |
| 41 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.32475508 |
| 42 | GATA3_26560356_Chip-Seq_TH1_Human | 1.32210148 |
| 43 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.29058747 |
| 44 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.25573413 |
| 45 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.24539685 |
| 46 | CBP_21632823_ChIP-Seq_H3396_Human | 1.22506614 |
| 47 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.21333529 |
| 48 | RXR_22108803_ChIP-Seq_LS180_Human | 1.20324994 |
| 49 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.18556938 |
| 50 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.16486002 |
| 51 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.13337861 |
| 52 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.11925434 |
| 53 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.11460666 |
| 54 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.11157256 |
| 55 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.10209809 |
| 56 | TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.08592961 |
| 57 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.06544965 |
| 58 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.05082626 |
| 59 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.04249178 |
| 60 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.03179038 |
| 61 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.02012392 |
| 62 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.01917935 |
| 63 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.01917935 |
| 64 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.01647994 |
| 65 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.01459445 |
| 66 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.01289233 |
| 67 | KLF4_19829295_ChIP-Seq_ESCs_Human | 1.01096546 |
| 68 | P300_19829295_ChIP-Seq_ESCs_Human | 1.00857605 |
| 69 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.00390070 |
| 70 | ERA_21632823_ChIP-Seq_H3396_Human | 1.00262309 |
| 71 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.99528223 |
| 72 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 0.97794924 |
| 73 | AR_20517297_ChIP-Seq_VCAP_Human | 0.97516509 |
| 74 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 0.97287136 |
| 75 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 0.97188472 |
| 76 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.96274720 |
| 77 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 0.96048359 |
| 78 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 0.91525417 |
| 79 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 0.91209896 |
| 80 | NANOG_20526341_ChIP-Seq_ESCs_Human | 0.90603201 |
| 81 | HOXB7_26014856_ChIP-Seq_BT474_Human | 0.89306444 |
| 82 | OCT4_19829295_ChIP-Seq_ESCs_Human | 0.88209375 |
| 83 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 0.87731976 |
| 84 | TRIM28_17542650_ChIP-ChIP_NTERA2_Human | 0.87252502 |
| 85 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 0.87188025 |
| 86 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 0.86828142 |
| 87 | OCT4_20526341_ChIP-Seq_ESCs_Human | 0.83777008 |
| 88 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 0.83575899 |
| 89 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 0.82981329 |
| 90 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 0.82705089 |
| 91 | TAF15_26573619_Chip-Seq_HEK293_Human | 0.82231249 |
| 92 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 0.81890224 |
| 93 | FOXM1_26456572_ChIP-Seq_MCF-7_Human | 0.81329102 |
| 94 | BCL6_27268052_Chip-Seq_Bcells_Human | 0.80361204 |
| 95 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 0.79944806 |
| 96 | CDX2_22108803_ChIP-Seq_LS180_Human | 0.77815727 |
| 97 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 0.77636226 |
| 98 | GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.77583766 |
| 99 | SMAD3_21741376_ChIP-Seq_HESCs_Human | 0.77391177 |
| 100 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 0.77272940 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008877_abnormal_DNA_methylation | 6.19562576 |
| 2 | MP0006292_abnormal_olfactory_placode | 4.69971279 |
| 3 | MP0009379_abnormal_foot_pigmentation | 4.38293245 |
| 4 | MP0000678_abnormal_parathyroid_gland | 3.79005480 |
| 5 | MP0002160_abnormal_reproductive_system | 3.66474947 |
| 6 | MP0002210_abnormal_sex_determination | 3.61832529 |
| 7 | MP0001929_abnormal_gametogenesis | 3.54722209 |
| 8 | MP0003693_abnormal_embryo_hatching | 3.16146869 |
| 9 | MP0008058_abnormal_DNA_repair | 2.93804519 |
| 10 | MP0000427_abnormal_hair_cycle | 2.83113521 |
| 11 | MP0003718_maternal_effect | 2.83104265 |
| 12 | MP0003698_abnormal_male_reproductive | 2.53877397 |
| 13 | MP0000653_abnormal_sex_gland | 2.45916659 |
| 14 | MP0001145_abnormal_male_reproductive | 2.40989401 |
| 15 | MP0003950_abnormal_plasma_membrane | 2.36678061 |
| 16 | MP0005410_abnormal_fertilization | 2.23072546 |
| 17 | MP0003699_abnormal_female_reproductive | 2.22996894 |
| 18 | MP0008057_abnormal_DNA_replication | 2.19939635 |
| 19 | MP0005389_reproductive_system_phenotype | 2.17702920 |
| 20 | MP0003646_muscle_fatigue | 1.98726569 |
| 21 | MP0003136_yellow_coat_color | 1.93910997 |
| 22 | MP0008789_abnormal_olfactory_epithelium | 1.87849620 |
| 23 | MP0003890_abnormal_embryonic-extraembry | 1.86997945 |
| 24 | MP0002161_abnormal_fertility/fecundity | 1.84790449 |
| 25 | MP0005646_abnormal_pituitary_gland | 1.83951073 |
| 26 | MP0003283_abnormal_digestive_organ | 1.80820123 |
| 27 | MP0002638_abnormal_pupillary_reflex | 1.78925574 |
| 28 | MP0001664_abnormal_digestion | 1.72914106 |
| 29 | MP0001502_abnormal_circadian_rhythm | 1.71303434 |
| 30 | MP0001119_abnormal_female_reproductive | 1.70789391 |
| 31 | MP0003119_abnormal_digestive_system | 1.69191800 |
| 32 | MP0003879_abnormal_hair_cell | 1.60059873 |
| 33 | MP0005394_taste/olfaction_phenotype | 1.59922169 |
| 34 | MP0005499_abnormal_olfactory_system | 1.59922169 |
| 35 | MP0010094_abnormal_chromosome_stability | 1.57605414 |
| 36 | MP0008995_early_reproductive_senescence | 1.55574754 |
| 37 | MP0001764_abnormal_homeostasis | 1.48307185 |
| 38 | MP0004043_abnormal_pH_regulation | 1.43895258 |
| 39 | MP0003111_abnormal_nucleus_morphology | 1.39421281 |
| 40 | MP0009840_abnormal_foam_cell | 1.38950955 |
| 41 | MP0003077_abnormal_cell_cycle | 1.38133497 |
| 42 | MP0006276_abnormal_autonomic_nervous | 1.34851343 |
| 43 | MP0005551_abnormal_eye_electrophysiolog | 1.32996638 |
| 44 | MP0003936_abnormal_reproductive_system | 1.29399442 |
| 45 | MP0004142_abnormal_muscle_tone | 1.29372770 |
| 46 | MP0005409_darkened_coat_color | 1.28509950 |
| 47 | MP0000372_irregular_coat_pigmentation | 1.28050023 |
| 48 | MP0000015_abnormal_ear_pigmentation | 1.27725814 |
| 49 | MP0005360_urolithiasis | 1.21982217 |
| 50 | MP0000049_abnormal_middle_ear | 1.18813443 |
| 51 | MP0000631_abnormal_neuroendocrine_gland | 1.16831028 |
| 52 | MP0001666_abnormal_nutrient_absorption | 1.13571643 |
| 53 | MP0010307_abnormal_tumor_latency | 1.13352090 |
| 54 | MP0010030_abnormal_orbit_morphology | 1.12925966 |
| 55 | MP0005174_abnormal_tail_pigmentation | 1.09494873 |
| 56 | MP0000569_abnormal_digit_pigmentation | 1.09302071 |
| 57 | MP0002095_abnormal_skin_pigmentation | 1.06384170 |
| 58 | MP0003866_abnormal_defecation | 1.03419625 |
| 59 | MP0005647_abnormal_sex_gland | 1.01525622 |
| 60 | MP0000470_abnormal_stomach_morphology | 1.01508049 |
| 61 | MP0001730_embryonic_growth_arrest | 0.94918575 |
| 62 | MP0001986_abnormal_taste_sensitivity | 0.84109487 |
| 63 | MP0003786_premature_aging | 0.80949032 |
| 64 | MP0000383_abnormal_hair_follicle | 0.80041246 |
| 65 | MP0005253_abnormal_eye_physiology | 0.78711608 |
| 66 | MP0002249_abnormal_larynx_morphology | 0.78704885 |
| 67 | MP0002234_abnormal_pharynx_morphology | 0.76514465 |
| 68 | MP0005395_other_phenotype | 0.74564635 |
| 69 | MP0002138_abnormal_hepatobiliary_system | 0.73357296 |
| 70 | MP0002272_abnormal_nervous_system | 0.72200943 |
| 71 | MP0002277_abnormal_respiratory_mucosa | 0.72009390 |
| 72 | MP0002127_abnormal_cardiovascular_syste | 0.71523484 |
| 73 | MP0003959_abnormal_lean_body | 0.70731299 |
| 74 | MP0000350_abnormal_cell_proliferation | 0.68591031 |
| 75 | MP0001324_abnormal_eye_pigmentation | 0.67916702 |
| 76 | MP0003121_genomic_imprinting | 0.67284794 |
| 77 | MP0005645_abnormal_hypothalamus_physiol | 0.65622257 |
| 78 | MP0000647_abnormal_sebaceous_gland | 0.65019066 |
| 79 | MP0002084_abnormal_developmental_patter | 0.61483550 |
| 80 | MP0003938_abnormal_ear_development | 0.61130594 |
| 81 | MP0003937_abnormal_limbs/digits/tail_de | 0.60059062 |
| 82 | MP0010678_abnormal_skin_adnexa | 0.59167038 |
| 83 | MP0004019_abnormal_vitamin_homeostasis | 0.58507369 |
| 84 | MP0003183_abnormal_peptide_metabolism | 0.56195986 |
| 85 | MP0003868_abnormal_feces_composition | 0.55899646 |
| 86 | MP0005220_abnormal_exocrine_pancreas | 0.55756486 |
| 87 | MP0005076_abnormal_cell_differentiation | 0.52694591 |
| 88 | MP0001963_abnormal_hearing_physiology | 0.52091567 |
| 89 | MP0000566_synostosis | 0.51579168 |
| 90 | MP0002139_abnormal_hepatobiliary_system | 0.51314630 |
| 91 | MP0002067_abnormal_sensory_capabilities | 0.49610246 |
| 92 | MP0003943_abnormal_hepatobiliary_system | 0.48555968 |
| 93 | MP0002751_abnormal_autonomic_nervous | 0.47897476 |
| 94 | MP0002163_abnormal_gland_morphology | 0.47576914 |
| 95 | MP0002229_neurodegeneration | 0.47108123 |
| 96 | MP0002184_abnormal_innervation | 0.46472344 |
| 97 | MP0002233_abnormal_nose_morphology | 0.46411259 |
| 98 | MP0002085_abnormal_embryonic_tissue | 0.45812359 |
| 99 | MP0001765_abnormal_ion_homeostasis | 0.44262161 |
| 100 | MP0003935_abnormal_craniofacial_develop | 0.43945295 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Premature ovarian failure (HP:0008209) | 4.67977724 |
| 2 | Abnormality of abdominal situs (HP:0011620) | 4.29095622 |
| 3 | Abdominal situs inversus (HP:0003363) | 4.29095622 |
| 4 | Male infertility (HP:0003251) | 4.28937571 |
| 5 | Oligodactyly (hands) (HP:0001180) | 4.08707566 |
| 6 | Primitive reflexes (palmomental, snout, glabellar) (HP:0002476) | 4.04918759 |
| 7 | Azoospermia (HP:0000027) | 4.01309164 |
| 8 | Median cleft lip (HP:0000161) | 3.93708246 |
| 9 | Impulsivity (HP:0100710) | 3.91444366 |
| 10 | Facial hemangioma (HP:0000329) | 3.52944014 |
| 11 | Lip pit (HP:0100267) | 3.42383786 |
| 12 | Attenuation of retinal blood vessels (HP:0007843) | 3.37667092 |
| 13 | Congenital sensorineural hearing impairment (HP:0008527) | 3.30679266 |
| 14 | Ectopic kidney (HP:0000086) | 3.29869573 |
| 15 | Abnormality of DNA repair (HP:0003254) | 3.28631480 |
| 16 | Spontaneous abortion (HP:0005268) | 3.24957615 |
| 17 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 3.10420380 |
| 18 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 3.10420380 |
| 19 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 3.09724749 |
| 20 | Hyperphosphatemia (HP:0002905) | 3.05701403 |
| 21 | Horizontal nystagmus (HP:0000666) | 3.02618251 |
| 22 | Anhidrosis (HP:0000970) | 2.99336408 |
| 23 | Tubulointerstitial nephritis (HP:0001970) | 2.92068581 |
| 24 | Gonadotropin excess (HP:0000837) | 2.92047107 |
| 25 | Abnormal ciliary motility (HP:0012262) | 2.90327615 |
| 26 | Shoulder girdle muscle weakness (HP:0003547) | 2.88222796 |
| 27 | Chromsome breakage (HP:0040012) | 2.87962606 |
| 28 | Osteomalacia (HP:0002749) | 2.82765737 |
| 29 | Supernumerary spleens (HP:0009799) | 2.79742657 |
| 30 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 2.79412926 |
| 31 | Abnormal spermatogenesis (HP:0008669) | 2.72433571 |
| 32 | Abnormality of the dental pulp (HP:0006479) | 2.72049224 |
| 33 | Short tibia (HP:0005736) | 2.67811714 |
| 34 | Oligodactyly (HP:0012165) | 2.67711605 |
| 35 | Hypophosphatemic rickets (HP:0004912) | 2.61989422 |
| 36 | Infertility (HP:0000789) | 2.58496213 |
| 37 | Anterior segment dysgenesis (HP:0007700) | 2.58119819 |
| 38 | Poikiloderma (HP:0001029) | 2.57119969 |
| 39 | Maternal diabetes (HP:0009800) | 2.51617100 |
| 40 | Hypoplastic iliac wings (HP:0002866) | 2.38402397 |
| 41 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.35453987 |
| 42 | Microglossia (HP:0000171) | 2.35197523 |
| 43 | Abnormality of the corticospinal tract (HP:0002492) | 2.34037744 |
| 44 | Impaired vibration sensation in the lower limbs (HP:0002166) | 2.31647850 |
| 45 | Decreased circulating renin level (HP:0003351) | 2.31150600 |
| 46 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 2.29872284 |
| 47 | Abnormal number of incisors (HP:0011064) | 2.28140619 |
| 48 | Preaxial hand polydactyly (HP:0001177) | 2.27498978 |
| 49 | Small intestinal stenosis (HP:0012848) | 2.24088448 |
| 50 | Duodenal stenosis (HP:0100867) | 2.24088448 |
| 51 | Pili torti (HP:0003777) | 2.22225223 |
| 52 | Facial cleft (HP:0002006) | 2.21944350 |
| 53 | Entropion (HP:0000621) | 2.17384779 |
| 54 | Hyperkalemia (HP:0002153) | 2.15632880 |
| 55 | Aplasia/Hypoplasia of the sternum (HP:0006714) | 2.13510226 |
| 56 | Microretrognathia (HP:0000308) | 2.11213167 |
| 57 | Dry hair (HP:0011359) | 2.11188912 |
| 58 | Bundle branch block (HP:0011710) | 2.09398902 |
| 59 | Neurofibrillary tangles (HP:0002185) | 2.07589882 |
| 60 | Rhinitis (HP:0012384) | 2.07323229 |
| 61 | Fair hair (HP:0002286) | 2.05982879 |
| 62 | Nephroblastoma (Wilms tumor) (HP:0002667) | 2.01914082 |
| 63 | Absent/shortened dynein arms (HP:0200106) | 2.01213020 |
| 64 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 2.01213020 |
| 65 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.01102578 |
| 66 | Absent thumb (HP:0009777) | 1.99520887 |
| 67 | Hyperactive renin-angiotensin system (HP:0000841) | 1.98164079 |
| 68 | Abnormality of calcium-phosphate metabolism (HP:0100530) | 1.97964638 |
| 69 | Abnormality of the nasal septum (HP:0000419) | 1.97376776 |
| 70 | Loss of speech (HP:0002371) | 1.94987417 |
| 71 | 11 pairs of ribs (HP:0000878) | 1.93146121 |
| 72 | Truncal obesity (HP:0001956) | 1.93045801 |
| 73 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.92249020 |
| 74 | Hypoplasia of the fovea (HP:0007750) | 1.92249020 |
| 75 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 1.91329604 |
| 76 | Tetany (HP:0001281) | 1.90958051 |
| 77 | Papillary thyroid carcinoma (HP:0002895) | 1.90034375 |
| 78 | Oligodontia (HP:0000677) | 1.89798288 |
| 79 | Abnormality of chromosome stability (HP:0003220) | 1.88727193 |
| 80 | Pancreatic fibrosis (HP:0100732) | 1.87398518 |
| 81 | Urinary bladder sphincter dysfunction (HP:0002839) | 1.87203970 |
| 82 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 1.87009107 |
| 83 | Embryonal renal neoplasm (HP:0011794) | 1.85393771 |
| 84 | Abnormality of dentin (HP:0010299) | 1.83914628 |
| 85 | Abnormal pancreas size (HP:0012094) | 1.83388461 |
| 86 | Dysdiadochokinesis (HP:0002075) | 1.82599793 |
| 87 | Abnormality of the renal collecting system (HP:0004742) | 1.81908732 |
| 88 | Rimmed vacuoles (HP:0003805) | 1.79465600 |
| 89 | Capillary hemangiomas (HP:0005306) | 1.79430470 |
| 90 | Abnormality of the preputium (HP:0100587) | 1.78398239 |
| 91 | Gaze-evoked nystagmus (HP:0000640) | 1.78097546 |
| 92 | Wrist flexion contracture (HP:0001239) | 1.76814998 |
| 93 | Abnormal respiratory motile cilium morphology (HP:0005938) | 1.76400597 |
| 94 | Abnormal respiratory epithelium morphology (HP:0012253) | 1.76400597 |
| 95 | Abnormality of the duodenum (HP:0002246) | 1.75623965 |
| 96 | Abnormality of midbrain morphology (HP:0002418) | 1.75136122 |
| 97 | Molar tooth sign on MRI (HP:0002419) | 1.75136122 |
| 98 | Genetic anticipation (HP:0003743) | 1.74951845 |
| 99 | Meckel diverticulum (HP:0002245) | 1.74488016 |
| 100 | Urinary urgency (HP:0000012) | 1.73660013 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | CDK19 | 6.23909339 |
| 2 | PNCK | 4.95934679 |
| 3 | MET | 4.29913510 |
| 4 | STK16 | 2.95015938 |
| 5 | MAP3K9 | 2.70216528 |
| 6 | CDK12 | 2.48770060 |
| 7 | CSF1R | 2.28458457 |
| 8 | TAOK3 | 2.16387116 |
| 9 | AURKA | 2.07421453 |
| 10 | NEK6 | 2.00557870 |
| 11 | MELK | 2.00443664 |
| 12 | TTK | 1.86945051 |
| 13 | PTK2B | 1.82027313 |
| 14 | CAMK1G | 1.80157887 |
| 15 | PLK4 | 1.78483100 |
| 16 | OXSR1 | 1.73663244 |
| 17 | TESK2 | 1.71646995 |
| 18 | ARAF | 1.65240692 |
| 19 | TNIK | 1.64905429 |
| 20 | WNK1 | 1.64229513 |
| 21 | ZAK | 1.54698401 |
| 22 | FGR | 1.52420451 |
| 23 | SIK2 | 1.41847897 |
| 24 | PLK1 | 1.39587051 |
| 25 | MST1R | 1.38959590 |
| 26 | WNK4 | 1.38213429 |
| 27 | PASK | 1.33323076 |
| 28 | BMX | 1.32019468 |
| 29 | TLK1 | 1.31268120 |
| 30 | RET | 1.29917033 |
| 31 | STK24 | 1.27251885 |
| 32 | PRKCI | 1.26402449 |
| 33 | BMPR1B | 1.22857425 |
| 34 | MAP3K5 | 1.21089383 |
| 35 | MARK3 | 1.19491682 |
| 36 | VRK1 | 1.18913234 |
| 37 | CHEK2 | 1.16354600 |
| 38 | MAPKAPK3 | 1.15520192 |
| 39 | NEK2 | 1.08664223 |
| 40 | CDK7 | 1.08205841 |
| 41 | PLK2 | 1.07634010 |
| 42 | NUAK1 | 0.94668726 |
| 43 | TRIM28 | 0.94509621 |
| 44 | ACVR1B | 0.93820165 |
| 45 | LIMK1 | 0.92889186 |
| 46 | TAOK2 | 0.92707202 |
| 47 | ATR | 0.92053723 |
| 48 | MAP3K13 | 0.84408111 |
| 49 | PDK1 | 0.84376907 |
| 50 | ADRBK1 | 0.84283025 |
| 51 | CHEK1 | 0.83036311 |
| 52 | BRAF | 0.81845048 |
| 53 | PIK3CG | 0.81591011 |
| 54 | BUB1 | 0.81091213 |
| 55 | TYRO3 | 0.80766017 |
| 56 | STK39 | 0.77505623 |
| 57 | SRPK1 | 0.75209788 |
| 58 | PTK2 | 0.74790217 |
| 59 | NLK | 0.74336899 |
| 60 | MAP3K12 | 0.72977281 |
| 61 | NEK9 | 0.72958883 |
| 62 | MAPK13 | 0.69733458 |
| 63 | NTRK3 | 0.68222970 |
| 64 | PRPF4B | 0.66124768 |
| 65 | PDK2 | 0.65421403 |
| 66 | EPHA4 | 0.59924349 |
| 67 | MAPK11 | 0.57478086 |
| 68 | NEK1 | 0.56975346 |
| 69 | NME1 | 0.55114715 |
| 70 | CSNK1E | 0.53818206 |
| 71 | RAF1 | 0.53321769 |
| 72 | MAP4K1 | 0.52775424 |
| 73 | TNK2 | 0.51271437 |
| 74 | CAMK1 | 0.51049441 |
| 75 | STK38L | 0.50884186 |
| 76 | RPS6KB1 | 0.50301690 |
| 77 | AURKB | 0.49059240 |
| 78 | MOS | 0.48651794 |
| 79 | CDK2 | 0.48630076 |
| 80 | ATM | 0.48611329 |
| 81 | MAP3K3 | 0.46756332 |
| 82 | PIM1 | 0.45937665 |
| 83 | PDPK1 | 0.44902140 |
| 84 | PBK | 0.43875233 |
| 85 | CDC7 | 0.43727788 |
| 86 | CDK8 | 0.43247006 |
| 87 | PDGFRB | 0.41874763 |
| 88 | TEC | 0.41496899 |
| 89 | LATS2 | 0.39794536 |
| 90 | PKN1 | 0.37102983 |
| 91 | EGFR | 0.36458451 |
| 92 | STK3 | 0.35931550 |
| 93 | MARK2 | 0.35012611 |
| 94 | CDK11A | 0.33632335 |
| 95 | GRK1 | 0.31723449 |
| 96 | CDK1 | 0.30578981 |
| 97 | IGF1R | 0.30057381 |
| 98 | MAP2K3 | 0.29743652 |
| 99 | PRKG1 | 0.29514409 |
| 100 | CDK9 | 0.29405534 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 4.11572664 |
| 2 | Phototransduction_Homo sapiens_hsa04744 | 3.72060601 |
| 3 | Basal transcription factors_Homo sapiens_hsa03022 | 3.65826885 |
| 4 | Mismatch repair_Homo sapiens_hsa03430 | 3.50124050 |
| 5 | Homologous recombination_Homo sapiens_hsa03440 | 3.47596565 |
| 6 | Oocyte meiosis_Homo sapiens_hsa04114 | 3.29782087 |
| 7 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 3.20595824 |
| 8 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.75978634 |
| 9 | Cell cycle_Homo sapiens_hsa04110 | 2.72310879 |
| 10 | DNA replication_Homo sapiens_hsa03030 | 2.35884727 |
| 11 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.28433033 |
| 12 | Nucleotide excision repair_Homo sapiens_hsa03420 | 2.23834340 |
| 13 | RNA transport_Homo sapiens_hsa03013 | 2.22719871 |
| 14 | Olfactory transduction_Homo sapiens_hsa04740 | 2.04130850 |
| 15 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.97346176 |
| 16 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 1.95027020 |
| 17 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.92671996 |
| 18 | Base excision repair_Homo sapiens_hsa03410 | 1.92175411 |
| 19 | RNA degradation_Homo sapiens_hsa03018 | 1.87760101 |
| 20 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.56294161 |
| 21 | Taste transduction_Homo sapiens_hsa04742 | 1.49619744 |
| 22 | RNA polymerase_Homo sapiens_hsa03020 | 1.45950629 |
| 23 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.42861606 |
| 24 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.29721210 |
| 25 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.29585511 |
| 26 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.28422306 |
| 27 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.23935425 |
| 28 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.19934684 |
| 29 | Bile secretion_Homo sapiens_hsa04976 | 1.16483489 |
| 30 | Circadian rhythm_Homo sapiens_hsa04710 | 1.13388913 |
| 31 | Retinol metabolism_Homo sapiens_hsa00830 | 1.12145435 |
| 32 | Ribosome_Homo sapiens_hsa03010 | 1.11136711 |
| 33 | ABC transporters_Homo sapiens_hsa02010 | 1.09552943 |
| 34 | Purine metabolism_Homo sapiens_hsa00230 | 0.99157368 |
| 35 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.94684208 |
| 36 | Nicotine addiction_Homo sapiens_hsa05033 | 0.94575889 |
| 37 | Morphine addiction_Homo sapiens_hsa05032 | 0.92099182 |
| 38 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.91906329 |
| 39 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.86886276 |
| 40 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.86161244 |
| 41 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.84097128 |
| 42 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.81691650 |
| 43 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.79407053 |
| 44 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.77433590 |
| 45 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.73755409 |
| 46 | Circadian entrainment_Homo sapiens_hsa04713 | 0.71734894 |
| 47 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.64358558 |
| 48 | Insulin secretion_Homo sapiens_hsa04911 | 0.64335170 |
| 49 | GABAergic synapse_Homo sapiens_hsa04727 | 0.63914341 |
| 50 | Lysine degradation_Homo sapiens_hsa00310 | 0.63514535 |
| 51 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.63132161 |
| 52 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.62112558 |
| 53 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.60803247 |
| 54 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.59055355 |
| 55 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.53460717 |
| 56 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.51215421 |
| 57 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.49494609 |
| 58 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.48608328 |
| 59 | Alcoholism_Homo sapiens_hsa05034 | 0.47019263 |
| 60 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.46737652 |
| 61 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.42319433 |
| 62 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.41299658 |
| 63 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.41277296 |
| 64 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.40308476 |
| 65 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.39786286 |
| 66 | HTLV-I infection_Homo sapiens_hsa05166 | 0.39378186 |
| 67 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.39091835 |
| 68 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.38456962 |
| 69 | Gap junction_Homo sapiens_hsa04540 | 0.38181511 |
| 70 | Huntingtons disease_Homo sapiens_hsa05016 | 0.36151271 |
| 71 | Cocaine addiction_Homo sapiens_hsa05030 | 0.35639046 |
| 72 | Adherens junction_Homo sapiens_hsa04520 | 0.34309810 |
| 73 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.33951075 |
| 74 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.32664188 |
| 75 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.29777757 |
| 76 | Salivary secretion_Homo sapiens_hsa04970 | 0.29692442 |
| 77 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.29537657 |
| 78 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.29483786 |
| 79 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.29063527 |
| 80 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.28914198 |
| 81 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.28456025 |
| 82 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.28010216 |
| 83 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.26443242 |
| 84 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.25321007 |
| 85 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.24876518 |
| 86 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.23630055 |
| 87 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.22713154 |
| 88 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.22310060 |
| 89 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.21876124 |
| 90 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.21693775 |
| 91 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.20592363 |
| 92 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.20347905 |
| 93 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.20101169 |
| 94 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.19964931 |
| 95 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.19429322 |
| 96 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.19378392 |
| 97 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.18934220 |
| 98 | Spliceosome_Homo sapiens_hsa03040 | 0.18453368 |
| 99 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.17342038 |
| 100 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.17140716 |

