

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 7.92965196 |
| 2 | acrosome reaction (GO:0007340) | 7.49271623 |
| 3 | microtubule depolymerization (GO:0007019) | 7.18396238 |
| 4 | fusion of sperm to egg plasma membrane (GO:0007342) | 6.98720695 |
| 5 | centriole replication (GO:0007099) | 6.68395403 |
| 6 | protein polyglutamylation (GO:0018095) | 6.09560786 |
| 7 | microtubule polymerization or depolymerization (GO:0031109) | 6.02718441 |
| 8 | protein targeting to Golgi (GO:0000042) | 5.74317485 |
| 9 | establishment of protein localization to Golgi (GO:0072600) | 5.65991295 |
| 10 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.52801267 |
| 11 | rRNA methylation (GO:0031167) | 5.44929572 |
| 12 | spermatid development (GO:0007286) | 5.44367465 |
| 13 | multicellular organism reproduction (GO:0032504) | 5.39255287 |
| 14 | centriole assembly (GO:0098534) | 5.26290013 |
| 15 | regulation of centriole replication (GO:0046599) | 5.23270745 |
| 16 | plasma membrane fusion (GO:0045026) | 5.17731097 |
| 17 | protein neddylation (GO:0045116) | 5.17508304 |
| 18 | chromosome condensation (GO:0030261) | 5.08206830 |
| 19 | sperm-egg recognition (GO:0035036) | 5.04794280 |
| 20 | DNA packaging (GO:0006323) | 5.02701392 |
| 21 | rRNA modification (GO:0000154) | 4.96717154 |
| 22 | response to pheromone (GO:0019236) | 4.95509774 |
| 23 | regulation of cilium movement (GO:0003352) | 4.89742506 |
| 24 | male meiosis (GO:0007140) | 4.68697050 |
| 25 | spermatid nucleus differentiation (GO:0007289) | 4.50757898 |
| 26 | seminiferous tubule development (GO:0072520) | 4.46027548 |
| 27 | epithelial cilium movement (GO:0003351) | 4.44187811 |
| 28 | protein localization to Golgi apparatus (GO:0034067) | 4.43429354 |
| 29 | piRNA metabolic process (GO:0034587) | 4.41303972 |
| 30 | spermatogenesis (GO:0007283) | 4.39658045 |
| 31 | male gamete generation (GO:0048232) | 4.38781357 |
| 32 | single strand break repair (GO:0000012) | 4.16317037 |
| 33 | binding of sperm to zona pellucida (GO:0007339) | 4.12297547 |
| 34 | gamete generation (GO:0007276) | 4.08931532 |
| 35 | cell-cell recognition (GO:0009988) | 4.07556145 |
| 36 | synapsis (GO:0007129) | 4.06947304 |
| 37 | sperm capacitation (GO:0048240) | 4.04028154 |
| 38 | reproduction (GO:0000003) | 4.03383712 |
| 39 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.02569711 |
| 40 | axonemal dynein complex assembly (GO:0070286) | 3.97012288 |
| 41 | histone exchange (GO:0043486) | 3.95227806 |
| 42 | regulation of meiosis I (GO:0060631) | 3.92771888 |
| 43 | calcium ion-dependent exocytosis (GO:0017156) | 3.89675668 |
| 44 | male meiosis I (GO:0007141) | 3.89564826 |
| 45 | DNA methylation involved in gamete generation (GO:0043046) | 3.82238805 |
| 46 | meiosis I (GO:0007127) | 3.74169602 |
| 47 | single fertilization (GO:0007338) | 3.70384625 |
| 48 | cilium movement (GO:0003341) | 3.65613769 |
| 49 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.63654112 |
| 50 | resolution of meiotic recombination intermediates (GO:0000712) | 3.37509375 |
| 51 | chromosome organization involved in meiosis (GO:0070192) | 3.36319211 |
| 52 | fertilization (GO:0009566) | 3.35426608 |
| 53 | microtubule nucleation (GO:0007020) | 3.31478542 |
| 54 | motile cilium assembly (GO:0044458) | 3.29279241 |
| 55 | cellular biogenic amine biosynthetic process (GO:0042401) | 3.29064658 |
| 56 | thrombin receptor signaling pathway (GO:0070493) | 3.23247142 |
| 57 | germ cell development (GO:0007281) | 3.21551647 |
| 58 | meiotic nuclear division (GO:0007126) | 3.19640096 |
| 59 | multicellular organismal reproductive process (GO:0048609) | 3.17743655 |
| 60 | behavioral response to nicotine (GO:0035095) | 3.17489439 |
| 61 | axoneme assembly (GO:0035082) | 3.17401014 |
| 62 | double-strand break repair via homologous recombination (GO:0000724) | 3.16243594 |
| 63 | microtubule severing (GO:0051013) | 3.14740682 |
| 64 | recombinational repair (GO:0000725) | 3.14639828 |
| 65 | amine biosynthetic process (GO:0009309) | 3.14232148 |
| 66 | chromatin remodeling at centromere (GO:0031055) | 3.11522514 |
| 67 | meiotic chromosome segregation (GO:0045132) | 3.11499293 |
| 68 | DNA double-strand break processing (GO:0000729) | 3.07565103 |
| 69 | indolalkylamine metabolic process (GO:0006586) | 3.05749630 |
| 70 | CENP-A containing nucleosome assembly (GO:0034080) | 3.03562510 |
| 71 | regulation of microtubule-based movement (GO:0060632) | 2.95876713 |
| 72 | regulation of centrosome duplication (GO:0010824) | 2.95759532 |
| 73 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 2.93533489 |
| 74 | polyamine biosynthetic process (GO:0006596) | 2.91774320 |
| 75 | reciprocal DNA recombination (GO:0035825) | 2.90684549 |
| 76 | reciprocal meiotic recombination (GO:0007131) | 2.90684549 |
| 77 | negative regulation of heart rate (GO:0010459) | 2.88217057 |
| 78 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 2.85653387 |
| 79 | centrosome organization (GO:0051297) | 2.85250655 |
| 80 | meiotic cell cycle process (GO:1903046) | 2.85038203 |
| 81 | negative regulation of response to food (GO:0032096) | 2.82202059 |
| 82 | negative regulation of appetite (GO:0032099) | 2.82202059 |
| 83 | centrosome duplication (GO:0051298) | 2.80127423 |
| 84 | ventricular system development (GO:0021591) | 2.78672467 |
| 85 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.73136433 |
| 86 | detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) | 2.69084030 |
| 87 | phosphatidylethanolamine metabolic process (GO:0046337) | 2.68247744 |
| 88 | cilium organization (GO:0044782) | 2.66596519 |
| 89 | regulation of centrosome cycle (GO:0046605) | 2.64554914 |
| 90 | microtubule organizing center organization (GO:0031023) | 2.63640721 |
| 91 | cilium assembly (GO:0042384) | 2.61645951 |
| 92 | glycerol ether metabolic process (GO:0006662) | 2.59876899 |
| 93 | somite development (GO:0061053) | 2.53433222 |
| 94 | positive regulation of Rab GTPase activity (GO:0032851) | 2.50710352 |
| 95 | regulation of Rab GTPase activity (GO:0032313) | 2.50710352 |
| 96 | replication fork processing (GO:0031297) | 2.45720944 |
| 97 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 2.45683805 |
| 98 | NADH dehydrogenase complex assembly (GO:0010257) | 2.45683805 |
| 99 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 2.45683805 |
| 100 | synaptonemal complex assembly (GO:0007130) | 2.43602720 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.33822452 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.22685282 |
| 3 | VDR_22108803_ChIP-Seq_LS180_Human | 2.93323479 |
| 4 | FUS_26573619_Chip-Seq_HEK293_Human | 2.92224822 |
| 5 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.85224115 |
| 6 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.60651744 |
| 7 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.43723928 |
| 8 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.36175038 |
| 9 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.35360319 |
| 10 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.34494990 |
| 11 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.25145618 |
| 12 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.23536580 |
| 13 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.23536580 |
| 14 | P300_19829295_ChIP-Seq_ESCs_Human | 2.15983701 |
| 15 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.15723382 |
| 16 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 2.15207818 |
| 17 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 2.14452309 |
| 18 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 2.08049784 |
| 19 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.02604541 |
| 20 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.01122887 |
| 21 | EWS_26573619_Chip-Seq_HEK293_Human | 1.90850151 |
| 22 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.85354345 |
| 23 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.85005772 |
| 24 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.85005772 |
| 25 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.77567918 |
| 26 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.67409091 |
| 27 | AR_25329375_ChIP-Seq_VCAP_Human | 1.63367118 |
| 28 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.61460781 |
| 29 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.57927156 |
| 30 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.56581597 |
| 31 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.50249801 |
| 32 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.50249801 |
| 33 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.47088333 |
| 34 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.45685227 |
| 35 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.45479538 |
| 36 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.45318607 |
| 37 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.45241831 |
| 38 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.44743986 |
| 39 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.44257146 |
| 40 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.43103568 |
| 41 | STAT3_23295773_ChIP-Seq_U87_Human | 1.42073601 |
| 42 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.34213193 |
| 43 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.30247539 |
| 44 | NFYB_21822215_ChIP-Seq_K562_Human | 1.30082003 |
| 45 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.28637231 |
| 46 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.27590484 |
| 47 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.27421292 |
| 48 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.26827197 |
| 49 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.26190858 |
| 50 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.26129117 |
| 51 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.25423575 |
| 52 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.25199611 |
| 53 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.23838801 |
| 54 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.23202479 |
| 55 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.23202479 |
| 56 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.22671931 |
| 57 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.22393952 |
| 58 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.22004197 |
| 59 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.21792344 |
| 60 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.21755138 |
| 61 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.21536434 |
| 62 | TBL1_22424771_ChIP-Seq_293T_Human | 1.21147773 |
| 63 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.20630256 |
| 64 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.20463377 |
| 65 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.19631328 |
| 66 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.19489079 |
| 67 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.18890369 |
| 68 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.18702588 |
| 69 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.17794394 |
| 70 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.17633797 |
| 71 | TCF4_23295773_ChIP-Seq_U87_Human | 1.16771207 |
| 72 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.16299053 |
| 73 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.14457552 |
| 74 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.13081013 |
| 75 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.12351505 |
| 76 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.12251482 |
| 77 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.11887799 |
| 78 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.11295259 |
| 79 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.10980191 |
| 80 | NFYA_21822215_ChIP-Seq_K562_Human | 1.10173486 |
| 81 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.09699388 |
| 82 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.09155842 |
| 83 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 1.08517369 |
| 84 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.08422390 |
| 85 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.08311204 |
| 86 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.08304462 |
| 87 | ERA_21632823_ChIP-Seq_H3396_Human | 1.06673417 |
| 88 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.06214982 |
| 89 | NCOR_22424771_ChIP-Seq_293T_Human | 1.06145586 |
| 90 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.05949064 |
| 91 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.05548181 |
| 92 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.04999792 |
| 93 | HTT_18923047_ChIP-ChIP_STHdh_Human | 1.04347045 |
| 94 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.03629535 |
| 95 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.02912813 |
| 96 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.01471283 |
| 97 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.01175349 |
| 98 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.01147971 |
| 99 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.00371107 |
| 100 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.00093143 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 6.45650059 |
| 2 | MP0003878_abnormal_ear_physiology | 3.26355839 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 3.26355839 |
| 4 | MP0003698_abnormal_male_reproductive | 2.96953711 |
| 5 | MP0001929_abnormal_gametogenesis | 2.79413313 |
| 6 | MP0005171_absent_coat_pigmentation | 2.75912714 |
| 7 | MP0003136_yellow_coat_color | 2.64999637 |
| 8 | MP0005670_abnormal_white_adipose | 2.63042888 |
| 9 | MP0006292_abnormal_olfactory_placode | 2.60520681 |
| 10 | MP0008877_abnormal_DNA_methylation | 2.49838686 |
| 11 | MP0003718_maternal_effect | 2.34649714 |
| 12 | MP0002102_abnormal_ear_morphology | 2.20021881 |
| 13 | MP0001485_abnormal_pinna_reflex | 2.10394528 |
| 14 | MP0003646_muscle_fatigue | 2.01435607 |
| 15 | MP0002210_abnormal_sex_determination | 1.96948428 |
| 16 | MP0009697_abnormal_copulation | 1.91620839 |
| 17 | MP0005551_abnormal_eye_electrophysiolog | 1.79210346 |
| 18 | MP0000372_irregular_coat_pigmentation | 1.78177854 |
| 19 | MP0005464_abnormal_platelet_physiology | 1.72175612 |
| 20 | MP0010094_abnormal_chromosome_stability | 1.71559970 |
| 21 | MP0008872_abnormal_physiological_respon | 1.67405114 |
| 22 | MP0002234_abnormal_pharynx_morphology | 1.67393937 |
| 23 | MP0008004_abnormal_stomach_pH | 1.65805614 |
| 24 | MP0005253_abnormal_eye_physiology | 1.64987098 |
| 25 | MP0001486_abnormal_startle_reflex | 1.62891023 |
| 26 | MP0001145_abnormal_male_reproductive | 1.56722834 |
| 27 | MP0005167_abnormal_blood-brain_barrier | 1.52938816 |
| 28 | MP0000653_abnormal_sex_gland | 1.52874104 |
| 29 | MP0008058_abnormal_DNA_repair | 1.52442995 |
| 30 | MP0002095_abnormal_skin_pigmentation | 1.51969172 |
| 31 | MP0002161_abnormal_fertility/fecundity | 1.51929064 |
| 32 | MP0005646_abnormal_pituitary_gland | 1.47318771 |
| 33 | MP0002653_abnormal_ependyma_morphology | 1.39704964 |
| 34 | MP0002938_white_spotting | 1.39640146 |
| 35 | MP0006276_abnormal_autonomic_nervous | 1.39359903 |
| 36 | MP0000015_abnormal_ear_pigmentation | 1.36173806 |
| 37 | MP0001293_anophthalmia | 1.31246520 |
| 38 | MP0002736_abnormal_nociception_after | 1.31136948 |
| 39 | MP0003195_calcinosis | 1.30177397 |
| 40 | MP0005083_abnormal_biliary_tract | 1.28985640 |
| 41 | MP0001529_abnormal_vocalization | 1.27437483 |
| 42 | MP0005084_abnormal_gallbladder_morpholo | 1.25403365 |
| 43 | MP0000230_abnormal_systemic_arterial | 1.23928938 |
| 44 | MP0008789_abnormal_olfactory_epithelium | 1.23573555 |
| 45 | MP0001968_abnormal_touch/_nociception | 1.23003087 |
| 46 | MP0003077_abnormal_cell_cycle | 1.22384915 |
| 47 | MP0000026_abnormal_inner_ear | 1.21269101 |
| 48 | MP0001984_abnormal_olfaction | 1.20338332 |
| 49 | MP0005379_endocrine/exocrine_gland_phen | 1.19164921 |
| 50 | MP0009053_abnormal_anal_canal | 1.19078051 |
| 51 | MP0004742_abnormal_vestibular_system | 1.16764251 |
| 52 | MP0005174_abnormal_tail_pigmentation | 1.16023063 |
| 53 | MP0002282_abnormal_trachea_morphology | 1.14744736 |
| 54 | MP0005499_abnormal_olfactory_system | 1.10507547 |
| 55 | MP0005394_taste/olfaction_phenotype | 1.10507547 |
| 56 | MP0001963_abnormal_hearing_physiology | 1.10340848 |
| 57 | MP0001905_abnormal_dopamine_level | 1.07997517 |
| 58 | MP0000631_abnormal_neuroendocrine_gland | 1.07869632 |
| 59 | MP0003011_delayed_dark_adaptation | 1.07121955 |
| 60 | MP0000049_abnormal_middle_ear | 1.02924165 |
| 61 | MP0004084_abnormal_cardiac_muscle | 1.01256702 |
| 62 | MP0003693_abnormal_embryo_hatching | 0.99031945 |
| 63 | MP0004142_abnormal_muscle_tone | 0.97746872 |
| 64 | MP0002160_abnormal_reproductive_system | 0.95104511 |
| 65 | MP0000569_abnormal_digit_pigmentation | 0.94956622 |
| 66 | MP0003880_abnormal_central_pattern | 0.94279610 |
| 67 | MP0005075_abnormal_melanosome_morpholog | 0.93312505 |
| 68 | MP0005645_abnormal_hypothalamus_physiol | 0.88721160 |
| 69 | MP0003119_abnormal_digestive_system | 0.87965064 |
| 70 | MP0001324_abnormal_eye_pigmentation | 0.85792406 |
| 71 | MP0009745_abnormal_behavioral_response | 0.85765037 |
| 72 | MP0002735_abnormal_chemical_nociception | 0.84582168 |
| 73 | MP0006072_abnormal_retinal_apoptosis | 0.84171047 |
| 74 | MP0005391_vision/eye_phenotype | 0.83350659 |
| 75 | MP0002163_abnormal_gland_morphology | 0.83078813 |
| 76 | MP0001879_abnormal_lymphatic_vessel | 0.82870110 |
| 77 | MP0002638_abnormal_pupillary_reflex | 0.81955293 |
| 78 | MP0000566_synostosis | 0.81904596 |
| 79 | MP0004957_abnormal_blastocyst_morpholog | 0.81903469 |
| 80 | MP0004215_abnormal_myocardial_fiber | 0.81517941 |
| 81 | MP0002132_abnormal_respiratory_system | 0.80338013 |
| 82 | MP0005310_abnormal_salivary_gland | 0.78081167 |
| 83 | MP0002557_abnormal_social/conspecific_i | 0.77327793 |
| 84 | MP0002272_abnormal_nervous_system | 0.75389712 |
| 85 | MP0002067_abnormal_sensory_capabilities | 0.73623008 |
| 86 | MP0003111_abnormal_nucleus_morphology | 0.73235962 |
| 87 | MP0005187_abnormal_penis_morphology | 0.72366756 |
| 88 | MP0005389_reproductive_system_phenotype | 0.72164272 |
| 89 | MP0002233_abnormal_nose_morphology | 0.71946381 |
| 90 | MP0003638_abnormal_response/metabolism_ | 0.70911316 |
| 91 | MP0001119_abnormal_female_reproductive | 0.70899502 |
| 92 | MP0005408_hypopigmentation | 0.69697568 |
| 93 | MP0008995_early_reproductive_senescence | 0.66697337 |
| 94 | MP0005195_abnormal_posterior_eye | 0.65817224 |
| 95 | MP0004484_altered_response_of | 0.65553921 |
| 96 | MP0001286_abnormal_eye_development | 0.64169940 |
| 97 | MP0002572_abnormal_emotion/affect_behav | 0.61915623 |
| 98 | MP0004085_abnormal_heartbeat | 0.61826941 |
| 99 | MP0008057_abnormal_DNA_replication | 0.61522610 |
| 100 | MP0008932_abnormal_embryonic_tissue | 0.61403348 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 4.51372834 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 4.51372834 |
| 3 | Chronic hepatic failure (HP:0100626) | 4.10184446 |
| 4 | Abnormal ciliary motility (HP:0012262) | 3.61796127 |
| 5 | Tubulointerstitial nephritis (HP:0001970) | 3.60986178 |
| 6 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.27538339 |
| 7 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.27538339 |
| 8 | Severe visual impairment (HP:0001141) | 3.24961828 |
| 9 | Nephronophthisis (HP:0000090) | 3.19508294 |
| 10 | Attenuation of retinal blood vessels (HP:0007843) | 3.18991213 |
| 11 | Pancreatic cysts (HP:0001737) | 3.16204673 |
| 12 | Type II lissencephaly (HP:0007260) | 3.12296915 |
| 13 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.05757524 |
| 14 | 3-Methylglutaconic aciduria (HP:0003535) | 3.02856040 |
| 15 | Decreased central vision (HP:0007663) | 3.02781253 |
| 16 | Pancreatic fibrosis (HP:0100732) | 3.02184712 |
| 17 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.95903468 |
| 18 | Abnormality of midbrain morphology (HP:0002418) | 2.80450577 |
| 19 | Molar tooth sign on MRI (HP:0002419) | 2.80450577 |
| 20 | True hermaphroditism (HP:0010459) | 2.80146289 |
| 21 | Abnormality of the renal medulla (HP:0100957) | 2.75920676 |
| 22 | Pendular nystagmus (HP:0012043) | 2.73524543 |
| 23 | Abnormality of macular pigmentation (HP:0008002) | 2.69803734 |
| 24 | Optic nerve hypoplasia (HP:0000609) | 2.65833941 |
| 25 | Renal Fanconi syndrome (HP:0001994) | 2.64137881 |
| 26 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.63128023 |
| 27 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.61055363 |
| 28 | Prolonged bleeding time (HP:0003010) | 2.57863512 |
| 29 | Abnormality of the ileum (HP:0001549) | 2.56837972 |
| 30 | Meckel diverticulum (HP:0002245) | 2.52165718 |
| 31 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.49453801 |
| 32 | Polydipsia (HP:0001959) | 2.46778237 |
| 33 | Abnormal drinking behavior (HP:0030082) | 2.46778237 |
| 34 | Duodenal stenosis (HP:0100867) | 2.42998226 |
| 35 | Small intestinal stenosis (HP:0012848) | 2.42998226 |
| 36 | Impulsivity (HP:0100710) | 2.35736708 |
| 37 | Polyuria (HP:0000103) | 2.35204092 |
| 38 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.30530210 |
| 39 | Abnormality of lateral ventricle (HP:0030047) | 2.29373280 |
| 40 | Congenital stationary night blindness (HP:0007642) | 2.28812191 |
| 41 | Ectopic kidney (HP:0000086) | 2.26955272 |
| 42 | Generalized aminoaciduria (HP:0002909) | 2.26199227 |
| 43 | Abolished electroretinogram (ERG) (HP:0000550) | 2.25886791 |
| 44 | Congenital, generalized hypertrichosis (HP:0004540) | 2.25448927 |
| 45 | Retinal dysplasia (HP:0007973) | 2.20844184 |
| 46 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.19837534 |
| 47 | Congenital sensorineural hearing impairment (HP:0008527) | 2.18636010 |
| 48 | Anencephaly (HP:0002323) | 2.17183131 |
| 49 | Cerebellar dysplasia (HP:0007033) | 2.16995018 |
| 50 | Abnormality of the renal cortex (HP:0011035) | 2.16127567 |
| 51 | Cystic liver disease (HP:0006706) | 2.14351349 |
| 52 | Abnormal urine output (HP:0012590) | 2.11586160 |
| 53 | Tubular atrophy (HP:0000092) | 2.11063839 |
| 54 | Cone-rod dystrophy (HP:0000548) | 2.07909892 |
| 55 | Abnormality of the duodenum (HP:0002246) | 2.05521117 |
| 56 | Male pseudohermaphroditism (HP:0000037) | 2.04069811 |
| 57 | Sloping forehead (HP:0000340) | 2.02504388 |
| 58 | Abnormality of chromosome stability (HP:0003220) | 2.00499017 |
| 59 | Tubulointerstitial abnormality (HP:0001969) | 2.00048407 |
| 60 | Anophthalmia (HP:0000528) | 1.99628303 |
| 61 | Medial flaring of the eyebrow (HP:0010747) | 1.99475695 |
| 62 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.99201474 |
| 63 | Abnormality of renal resorption (HP:0011038) | 1.95395305 |
| 64 | Triphalangeal thumb (HP:0001199) | 1.95017933 |
| 65 | Abnormality of cochlea (HP:0000375) | 1.94914670 |
| 66 | Sclerocornea (HP:0000647) | 1.94319885 |
| 67 | Gastrointestinal atresia (HP:0002589) | 1.94058922 |
| 68 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.92993049 |
| 69 | Hypoplasia of the fovea (HP:0007750) | 1.92993049 |
| 70 | Intellectual disability, moderate (HP:0002342) | 1.92726963 |
| 71 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 1.91626715 |
| 72 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 1.90639884 |
| 73 | Absent thumb (HP:0009777) | 1.90609530 |
| 74 | Birth length less than 3rd percentile (HP:0003561) | 1.89444341 |
| 75 | Postaxial foot polydactyly (HP:0001830) | 1.89011248 |
| 76 | Male infertility (HP:0003251) | 1.88157558 |
| 77 | Occipital encephalocele (HP:0002085) | 1.87595872 |
| 78 | Glycosuria (HP:0003076) | 1.87565096 |
| 79 | Abnormality of urine glucose concentration (HP:0011016) | 1.87565096 |
| 80 | Growth hormone deficiency (HP:0000824) | 1.87516273 |
| 81 | Abnormal spermatogenesis (HP:0008669) | 1.86191075 |
| 82 | Lissencephaly (HP:0001339) | 1.85391842 |
| 83 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 1.84943503 |
| 84 | Abnormality of alanine metabolism (HP:0010916) | 1.84943503 |
| 85 | Hyperalaninemia (HP:0003348) | 1.84943503 |
| 86 | Astigmatism (HP:0000483) | 1.84361560 |
| 87 | Stage 5 chronic kidney disease (HP:0003774) | 1.84127654 |
| 88 | Dyschromatopsia (HP:0007641) | 1.83464265 |
| 89 | Infertility (HP:0000789) | 1.82717812 |
| 90 | Menorrhagia (HP:0000132) | 1.82710187 |
| 91 | Clubbing of toes (HP:0100760) | 1.82055935 |
| 92 | Abnormality of the preputium (HP:0100587) | 1.80942363 |
| 93 | Morphological abnormality of the inner ear (HP:0011390) | 1.80911740 |
| 94 | Increased mean platelet volume (HP:0011877) | 1.78490506 |
| 95 | Petechiae (HP:0000967) | 1.78401662 |
| 96 | Abnormality of renal excretion (HP:0011036) | 1.78225364 |
| 97 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.78150603 |
| 98 | Portal hypertension (HP:0001409) | 1.75115142 |
| 99 | Esophageal atresia (HP:0002032) | 1.73862392 |
| 100 | Amelogenesis imperfecta (HP:0000705) | 1.72700451 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 6.23790493 |
| 2 | INSRR | 4.52031950 |
| 3 | PNCK | 3.72398490 |
| 4 | PLK2 | 2.80295594 |
| 5 | MAP4K2 | 2.56787444 |
| 6 | ZAK | 2.40797823 |
| 7 | BMPR1B | 2.36727022 |
| 8 | BRD4 | 2.08342147 |
| 9 | FRK | 2.00375359 |
| 10 | TAF1 | 1.99203063 |
| 11 | WEE1 | 1.95513982 |
| 12 | WNK3 | 1.95409330 |
| 13 | CAMK1G | 1.93743507 |
| 14 | NUAK1 | 1.88791350 |
| 15 | CDC7 | 1.73742948 |
| 16 | PIK3CG | 1.61680621 |
| 17 | ADRBK2 | 1.50295595 |
| 18 | TNIK | 1.49626839 |
| 19 | STK38L | 1.48755675 |
| 20 | ACVR1B | 1.47283438 |
| 21 | BRSK2 | 1.44703570 |
| 22 | PTK2B | 1.44673250 |
| 23 | MAP3K4 | 1.39230915 |
| 24 | TIE1 | 1.32574179 |
| 25 | MST4 | 1.24831924 |
| 26 | MKNK1 | 1.23209942 |
| 27 | TRIM28 | 1.20646121 |
| 28 | TLK1 | 1.19757586 |
| 29 | GRK1 | 1.19204832 |
| 30 | VRK1 | 1.18653926 |
| 31 | CCNB1 | 1.16515308 |
| 32 | TAOK3 | 1.15487631 |
| 33 | NEK2 | 1.12902242 |
| 34 | STK39 | 1.12338853 |
| 35 | MKNK2 | 1.08670458 |
| 36 | TEC | 1.07737507 |
| 37 | EIF2AK1 | 1.04703932 |
| 38 | MAPK15 | 1.02532574 |
| 39 | MAP2K7 | 1.01994702 |
| 40 | DDR2 | 1.00496990 |
| 41 | PLK3 | 0.95779610 |
| 42 | STK3 | 0.93081214 |
| 43 | VRK2 | 0.92526431 |
| 44 | DYRK2 | 0.92427245 |
| 45 | CAMK1D | 0.87582353 |
| 46 | DYRK3 | 0.87079323 |
| 47 | PINK1 | 0.86268349 |
| 48 | PLK1 | 0.83505478 |
| 49 | TYRO3 | 0.82798236 |
| 50 | OXSR1 | 0.80242333 |
| 51 | CDK3 | 0.77926368 |
| 52 | MAPK13 | 0.74648776 |
| 53 | BRSK1 | 0.70668057 |
| 54 | MYLK | 0.69113075 |
| 55 | PKN1 | 0.68149216 |
| 56 | BMPR2 | 0.67324292 |
| 57 | WNK4 | 0.65032683 |
| 58 | MARK3 | 0.64581458 |
| 59 | PRKCG | 0.62130916 |
| 60 | BMX | 0.61823093 |
| 61 | TGFBR1 | 0.61121626 |
| 62 | PRKG1 | 0.58665472 |
| 63 | CAMK1 | 0.57643961 |
| 64 | CHEK2 | 0.57375250 |
| 65 | MAPKAPK5 | 0.57104928 |
| 66 | NEK1 | 0.55373795 |
| 67 | CDK7 | 0.55103093 |
| 68 | GRK5 | 0.53823545 |
| 69 | TXK | 0.53545609 |
| 70 | ATR | 0.52937467 |
| 71 | DYRK1B | 0.52761313 |
| 72 | BUB1 | 0.52576856 |
| 73 | RPS6KA5 | 0.50244294 |
| 74 | ILK | 0.49393474 |
| 75 | CSNK1G1 | 0.47382817 |
| 76 | STK16 | 0.46385458 |
| 77 | NME1 | 0.46242406 |
| 78 | TTK | 0.45917387 |
| 79 | EIF2AK3 | 0.45642528 |
| 80 | CSNK1G3 | 0.43440709 |
| 81 | NLK | 0.42208655 |
| 82 | CDK19 | 0.42204271 |
| 83 | IKBKB | 0.41347068 |
| 84 | CSF1R | 0.40440750 |
| 85 | EPHB2 | 0.36652883 |
| 86 | RPS6KA4 | 0.36304707 |
| 87 | ADRBK1 | 0.35321211 |
| 88 | PRKCE | 0.32977172 |
| 89 | CSNK1G2 | 0.31589091 |
| 90 | AURKB | 0.30233847 |
| 91 | ATM | 0.29306933 |
| 92 | CDK1 | 0.28182116 |
| 93 | PAK3 | 0.27728983 |
| 94 | MINK1 | 0.27470238 |
| 95 | CAMK2A | 0.27432403 |
| 96 | PRKACA | 0.27311232 |
| 97 | CHUK | 0.26035262 |
| 98 | BRAF | 0.25996453 |
| 99 | CDK8 | 0.23965944 |
| 100 | ROCK1 | 0.23302752 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Mismatch repair_Homo sapiens_hsa03430 | 3.33763783 |
| 2 | Homologous recombination_Homo sapiens_hsa03440 | 3.30872190 |
| 3 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 3.16427814 |
| 4 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 2.95716107 |
| 5 | Olfactory transduction_Homo sapiens_hsa04740 | 2.84324376 |
| 6 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.45130667 |
| 7 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.40471928 |
| 8 | DNA replication_Homo sapiens_hsa03030 | 2.30729534 |
| 9 | Phototransduction_Homo sapiens_hsa04744 | 2.15993998 |
| 10 | Basal transcription factors_Homo sapiens_hsa03022 | 2.14441090 |
| 11 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 2.10003085 |
| 12 | RNA transport_Homo sapiens_hsa03013 | 1.88709086 |
| 13 | Parkinsons disease_Homo sapiens_hsa05012 | 1.87122349 |
| 14 | Huntingtons disease_Homo sapiens_hsa05016 | 1.85442118 |
| 15 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.82130896 |
| 16 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.76267620 |
| 17 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.65879915 |
| 18 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.62236423 |
| 19 | Ribosome_Homo sapiens_hsa03010 | 1.61200795 |
| 20 | RNA polymerase_Homo sapiens_hsa03020 | 1.55938677 |
| 21 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.48498072 |
| 22 | Base excision repair_Homo sapiens_hsa03410 | 1.39719511 |
| 23 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.38347505 |
| 24 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.38285478 |
| 25 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.36541688 |
| 26 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.36478157 |
| 27 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.33381841 |
| 28 | Purine metabolism_Homo sapiens_hsa00230 | 1.30821824 |
| 29 | Protein export_Homo sapiens_hsa03060 | 1.29203779 |
| 30 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.28559030 |
| 31 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.26530029 |
| 32 | RNA degradation_Homo sapiens_hsa03018 | 1.24853214 |
| 33 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.23276252 |
| 34 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.23013363 |
| 35 | Taste transduction_Homo sapiens_hsa04742 | 1.21706541 |
| 36 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.20405661 |
| 37 | Cell cycle_Homo sapiens_hsa04110 | 1.19622179 |
| 38 | Proteasome_Homo sapiens_hsa03050 | 1.14400177 |
| 39 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.03178373 |
| 40 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.01297935 |
| 41 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 1.00675064 |
| 42 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.98350641 |
| 43 | Platelet activation_Homo sapiens_hsa04611 | 0.97720812 |
| 44 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.94284289 |
| 45 | Alzheimers disease_Homo sapiens_hsa05010 | 0.93999355 |
| 46 | Morphine addiction_Homo sapiens_hsa05032 | 0.91637871 |
| 47 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.91605438 |
| 48 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.88022389 |
| 49 | ABC transporters_Homo sapiens_hsa02010 | 0.86699538 |
| 50 | Asthma_Homo sapiens_hsa05310 | 0.86398340 |
| 51 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.85561909 |
| 52 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.85550482 |
| 53 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.84615828 |
| 54 | Retinol metabolism_Homo sapiens_hsa00830 | 0.84384513 |
| 55 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.83571604 |
| 56 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.82369064 |
| 57 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.80935510 |
| 58 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.77529163 |
| 59 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.77081177 |
| 60 | Spliceosome_Homo sapiens_hsa03040 | 0.77060813 |
| 61 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.76677836 |
| 62 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.75335452 |
| 63 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.73692444 |
| 64 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.72867495 |
| 65 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.72474100 |
| 66 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.72268637 |
| 67 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.71292556 |
| 68 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.70669028 |
| 69 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.69597546 |
| 70 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.67784413 |
| 71 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.67228978 |
| 72 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.67160599 |
| 73 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.62959378 |
| 74 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.62476423 |
| 75 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.62002458 |
| 76 | Nicotine addiction_Homo sapiens_hsa05033 | 0.61879585 |
| 77 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.61112025 |
| 78 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.60784109 |
| 79 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.60601545 |
| 80 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.60138587 |
| 81 | Sulfur relay system_Homo sapiens_hsa04122 | 0.59027995 |
| 82 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.58676290 |
| 83 | Metabolic pathways_Homo sapiens_hsa01100 | 0.57179617 |
| 84 | Circadian entrainment_Homo sapiens_hsa04713 | 0.53289052 |
| 85 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.53022618 |
| 86 | Alcoholism_Homo sapiens_hsa05034 | 0.52956628 |
| 87 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.45329081 |
| 88 | Allograft rejection_Homo sapiens_hsa05330 | 0.44172938 |
| 89 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.43624133 |
| 90 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.43612612 |
| 91 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.43126972 |
| 92 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.42887735 |
| 93 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.42360737 |
| 94 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.41440459 |
| 95 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.39551619 |
| 96 | GABAergic synapse_Homo sapiens_hsa04727 | 0.39263239 |
| 97 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.39090610 |
| 98 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.38283247 |
| 99 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.36453299 |
| 100 | Salivary secretion_Homo sapiens_hsa04970 | 0.34468793 |

