

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | cilium movement (GO:0003341) | 9.93597645 |
| 2 | epithelial cilium movement (GO:0003351) | 9.39298983 |
| 3 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 9.16858884 |
| 4 | motile cilium assembly (GO:0044458) | 8.94835972 |
| 5 | axoneme assembly (GO:0035082) | 6.09045729 |
| 6 | regulation of cilium movement (GO:0003352) | 5.72709618 |
| 7 | sperm motility (GO:0030317) | 5.59256758 |
| 8 | sperm capacitation (GO:0048240) | 5.27271693 |
| 9 | centriole replication (GO:0007099) | 5.19138859 |
| 10 | centriole assembly (GO:0098534) | 5.18028029 |
| 11 | ventricular system development (GO:0021591) | 4.83911648 |
| 12 | negative regulation of inclusion body assembly (GO:0090084) | 4.83812608 |
| 13 | microtubule polymerization or depolymerization (GO:0031109) | 4.74557261 |
| 14 | left/right pattern formation (GO:0060972) | 4.69616602 |
| 15 | left/right axis specification (GO:0070986) | 4.44269326 |
| 16 | microtubule depolymerization (GO:0007019) | 4.41887829 |
| 17 | cilium organization (GO:0044782) | 4.40790906 |
| 18 | intraciliary transport (GO:0042073) | 4.39834188 |
| 19 | spermatid development (GO:0007286) | 4.37990357 |
| 20 | cilium assembly (GO:0042384) | 4.30985390 |
| 21 | regulation of microtubule-based movement (GO:0060632) | 4.23190282 |
| 22 | retinal cone cell development (GO:0046549) | 4.13704610 |
| 23 | microtubule bundle formation (GO:0001578) | 4.11098942 |
| 24 | multicellular organism reproduction (GO:0032504) | 4.04706896 |
| 25 | protein polyglutamylation (GO:0018095) | 3.92761678 |
| 26 | single strand break repair (GO:0000012) | 3.91702479 |
| 27 | acrosome reaction (GO:0007340) | 3.88071671 |
| 28 | central nervous system myelination (GO:0022010) | 3.68597226 |
| 29 | axon ensheathment in central nervous system (GO:0032291) | 3.68597226 |
| 30 | microtubule severing (GO:0051013) | 3.61189617 |
| 31 | microtubule-based movement (GO:0007018) | 3.52211645 |
| 32 | cellular component assembly involved in morphogenesis (GO:0010927) | 3.46531348 |
| 33 | sperm-egg recognition (GO:0035036) | 3.43181170 |
| 34 | regulation of inclusion body assembly (GO:0090083) | 3.33927626 |
| 35 | cilium morphogenesis (GO:0060271) | 3.32976030 |
| 36 | binding of sperm to zona pellucida (GO:0007339) | 3.32231004 |
| 37 | reproduction (GO:0000003) | 3.25794696 |
| 38 | regulation of meiosis I (GO:0060631) | 3.22961485 |
| 39 | regulation of female gonad development (GO:2000194) | 3.21880248 |
| 40 | fusion of sperm to egg plasma membrane (GO:0007342) | 3.17422662 |
| 41 | piRNA metabolic process (GO:0034587) | 3.16534578 |
| 42 | single fertilization (GO:0007338) | 3.13955392 |
| 43 | calcium ion-dependent exocytosis (GO:0017156) | 3.11029014 |
| 44 | cochlea development (GO:0090102) | 3.07611154 |
| 45 | meiotic cell cycle (GO:0051321) | 3.04277762 |
| 46 | spermatogenesis (GO:0007283) | 3.03070835 |
| 47 | primary alcohol catabolic process (GO:0034310) | 3.02214691 |
| 48 | cell projection assembly (GO:0030031) | 3.02114467 |
| 49 | male gamete generation (GO:0048232) | 3.01821978 |
| 50 | fertilization (GO:0009566) | 2.92307202 |
| 51 | protein localization to cilium (GO:0061512) | 2.91084061 |
| 52 | gamete generation (GO:0007276) | 2.90854027 |
| 53 | germ cell development (GO:0007281) | 2.87541494 |
| 54 | lateral sprouting from an epithelium (GO:0060601) | 2.87282238 |
| 55 | sleep (GO:0030431) | 2.82426608 |
| 56 | positive regulation of calcium ion-dependent exocytosis (GO:0045956) | 2.82251088 |
| 57 | establishment of tissue polarity (GO:0007164) | 2.79289790 |
| 58 | establishment of planar polarity (GO:0001736) | 2.79289790 |
| 59 | DNA methylation involved in gamete generation (GO:0043046) | 2.78794030 |
| 60 | cell-cell recognition (GO:0009988) | 2.76891927 |
| 61 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 2.76159790 |
| 62 | one-carbon compound transport (GO:0019755) | 2.72926038 |
| 63 | smoothened signaling pathway (GO:0007224) | 2.69763454 |
| 64 | chromosome condensation (GO:0030261) | 2.69100583 |
| 65 | acrosome assembly (GO:0001675) | 2.64038159 |
| 66 | glomerular epithelial cell development (GO:0072310) | 2.63174853 |
| 67 | DNA packaging (GO:0006323) | 2.62699923 |
| 68 | L-amino acid import (GO:0043092) | 2.60821452 |
| 69 | notochord development (GO:0030903) | 2.58798065 |
| 70 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 2.56315665 |
| 71 | histone exchange (GO:0043486) | 2.56206389 |
| 72 | spermatid nucleus differentiation (GO:0007289) | 2.54441095 |
| 73 | male meiosis (GO:0007140) | 2.54370063 |
| 74 | regulation of DNA methylation (GO:0044030) | 2.52209877 |
| 75 | determination of left/right symmetry (GO:0007368) | 2.51950458 |
| 76 | establishment of apical/basal cell polarity (GO:0035089) | 2.51945465 |
| 77 | phosphatidylethanolamine metabolic process (GO:0046337) | 2.50102497 |
| 78 | relaxation of smooth muscle (GO:0044557) | 2.46423199 |
| 79 | plasma membrane fusion (GO:0045026) | 2.46340692 |
| 80 | vitamin transmembrane transport (GO:0035461) | 2.45001444 |
| 81 | cerebral cortex neuron differentiation (GO:0021895) | 2.44526310 |
| 82 | limb development (GO:0060173) | 2.42463010 |
| 83 | appendage development (GO:0048736) | 2.42463010 |
| 84 | female gamete generation (GO:0007292) | 2.40730485 |
| 85 | retinal rod cell development (GO:0046548) | 2.38923590 |
| 86 | cytoplasmic microtubule organization (GO:0031122) | 2.38861542 |
| 87 | determination of bilateral symmetry (GO:0009855) | 2.37210781 |
| 88 | male meiosis I (GO:0007141) | 2.35256775 |
| 89 | apical protein localization (GO:0045176) | 2.35187205 |
| 90 | lung epithelium development (GO:0060428) | 2.34624530 |
| 91 | retina layer formation (GO:0010842) | 2.33974422 |
| 92 | negative regulation of astrocyte differentiation (GO:0048712) | 2.33763987 |
| 93 | protein refolding (GO:0042026) | 2.33087410 |
| 94 | specification of symmetry (GO:0009799) | 2.32386289 |
| 95 | regulation of mesoderm development (GO:2000380) | 2.32230499 |
| 96 | microtubule-based process (GO:0007017) | 2.31654187 |
| 97 | hyperosmotic salinity response (GO:0042538) | 2.30172552 |
| 98 | metanephric mesenchyme development (GO:0072075) | 2.29220386 |
| 99 | axonemal dynein complex assembly (GO:0070286) | 12.5880889 |
| 100 | cilium or flagellum-dependent cell motility (GO:0001539) | 10.7122718 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 6.24686966 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.72061342 |
| 3 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.75711586 |
| 4 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.67893803 |
| 5 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.36672402 |
| 6 | FUS_26573619_Chip-Seq_HEK293_Human | 2.26072829 |
| 7 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.22203338 |
| 8 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.21989998 |
| 9 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.17968876 |
| 10 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.13076907 |
| 11 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.10999233 |
| 12 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.82742289 |
| 13 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.82549292 |
| 14 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.80244038 |
| 15 | P300_19829295_ChIP-Seq_ESCs_Human | 1.79339299 |
| 16 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.75337998 |
| 17 | * SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.75103012 |
| 18 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.73427417 |
| 19 | * SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.73302384 |
| 20 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.71783671 |
| 21 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.70942063 |
| 22 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.70942063 |
| 23 | VDR_22108803_ChIP-Seq_LS180_Human | 1.61150538 |
| 24 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.60761265 |
| 25 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.60761265 |
| 26 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.58959651 |
| 27 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.56151937 |
| 28 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.55497392 |
| 29 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.54057681 |
| 30 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.51775745 |
| 31 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.49967780 |
| 32 | * SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.49778209 |
| 33 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.47997026 |
| 34 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.44051534 |
| 35 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.42918154 |
| 36 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.42560162 |
| 37 | * AR_25329375_ChIP-Seq_VCAP_Human | 1.40428761 |
| 38 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.40202938 |
| 39 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.39634822 |
| 40 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 1.39386246 |
| 41 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.37054215 |
| 42 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.36432042 |
| 43 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.33142786 |
| 44 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.32074949 |
| 45 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.30699655 |
| 46 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.29452173 |
| 47 | * NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.29061062 |
| 48 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.28994925 |
| 49 | FOXM1_26456572_ChIP-Seq_MCF-7_Human | 1.28919946 |
| 50 | STAT3_23295773_ChIP-Seq_U87_Human | 1.28776533 |
| 51 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.27037744 |
| 52 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.25136750 |
| 53 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.24598409 |
| 54 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.23325898 |
| 55 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.22488310 |
| 56 | * TCF4_23295773_ChIP-Seq_U87_Human | 1.20764597 |
| 57 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.20520732 |
| 58 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.20008108 |
| 59 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.19235473 |
| 60 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.19067533 |
| 61 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.18529915 |
| 62 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.18248364 |
| 63 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 1.16532078 |
| 64 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.15759003 |
| 65 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.15332435 |
| 66 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.15332435 |
| 67 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.15051818 |
| 68 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.14904284 |
| 69 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.14699457 |
| 70 | TBL1_22424771_ChIP-Seq_293T_Human | 1.14332470 |
| 71 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.13603812 |
| 72 | SMAD3_21741376_ChIP-Seq_HESCs_Human | 1.13343402 |
| 73 | LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.12391833 |
| 74 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.10092751 |
| 75 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.09750666 |
| 76 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.09532314 |
| 77 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.08922030 |
| 78 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.08781790 |
| 79 | EWS_26573619_Chip-Seq_HEK293_Human | 1.08528473 |
| 80 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.08128638 |
| 81 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.07820164 |
| 82 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.07669439 |
| 83 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 1.06959746 |
| 84 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.05596598 |
| 85 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.04803884 |
| 86 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.04115339 |
| 87 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.02915004 |
| 88 | NFYB_21822215_ChIP-Seq_K562_Human | 1.00728455 |
| 89 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 0.99748485 |
| 90 | PHF8_20622853_ChIP-Seq_HELA_Human | 0.99573640 |
| 91 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.98795439 |
| 92 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.98795439 |
| 93 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 0.98528694 |
| 94 | BCAT_22108803_ChIP-Seq_LS180_Human | 0.98266306 |
| 95 | CBP_21632823_ChIP-Seq_H3396_Human | 0.97920165 |
| 96 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 0.97042571 |
| 97 | TP63_23658742_ChIP-Seq_EP156T_Human | 0.96073806 |
| 98 | RBPJ_21746931_ChIP-Seq_IB4_Human | 0.95292310 |
| 99 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 0.95101492 |
| 100 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 0.93590178 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 3.77332750 |
| 2 | MP0002653_abnormal_ependyma_morphology | 3.30339151 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 3.20471639 |
| 4 | MP0003878_abnormal_ear_physiology | 3.20471639 |
| 5 | MP0001984_abnormal_olfaction | 3.04655746 |
| 6 | MP0003136_yellow_coat_color | 2.74492219 |
| 7 | MP0003718_maternal_effect | 2.64984708 |
| 8 | MP0008877_abnormal_DNA_methylation | 2.64489116 |
| 9 | MP0003890_abnormal_embryonic-extraembry | 2.53441941 |
| 10 | MP0000566_synostosis | 2.39986983 |
| 11 | MP0008789_abnormal_olfactory_epithelium | 2.31873644 |
| 12 | MP0001485_abnormal_pinna_reflex | 2.19252557 |
| 13 | MP0001929_abnormal_gametogenesis | 2.08846089 |
| 14 | MP0006292_abnormal_olfactory_placode | 2.04724524 |
| 15 | MP0005499_abnormal_olfactory_system | 2.03814337 |
| 16 | MP0005394_taste/olfaction_phenotype | 2.03814337 |
| 17 | MP0003698_abnormal_male_reproductive | 2.02144470 |
| 18 | MP0002272_abnormal_nervous_system | 1.99005193 |
| 19 | MP0010030_abnormal_orbit_morphology | 1.94109778 |
| 20 | MP0003880_abnormal_central_pattern | 1.94068147 |
| 21 | MP0004133_heterotaxia | 1.94060151 |
| 22 | MP0004885_abnormal_endolymph | 1.86997868 |
| 23 | MP0004859_abnormal_synaptic_plasticity | 1.84854151 |
| 24 | MP0001486_abnormal_startle_reflex | 1.82555193 |
| 25 | MP0008875_abnormal_xenobiotic_pharmacok | 1.81160750 |
| 26 | MP0002734_abnormal_mechanical_nocicepti | 1.74747539 |
| 27 | MP0009745_abnormal_behavioral_response | 1.67457844 |
| 28 | MP0002735_abnormal_chemical_nociception | 1.58013968 |
| 29 | MP0003635_abnormal_synaptic_transmissio | 1.56648156 |
| 30 | MP0002132_abnormal_respiratory_system | 1.52928539 |
| 31 | MP0009379_abnormal_foot_pigmentation | 1.52274687 |
| 32 | MP0009046_muscle_twitch | 1.51967484 |
| 33 | MP0002160_abnormal_reproductive_system | 1.48017381 |
| 34 | MP0001293_anophthalmia | 1.46142579 |
| 35 | MP0002282_abnormal_trachea_morphology | 1.44973228 |
| 36 | MP0003879_abnormal_hair_cell | 1.42821287 |
| 37 | MP0002277_abnormal_respiratory_mucosa | 1.40485307 |
| 38 | MP0001968_abnormal_touch/_nociception | 1.40187851 |
| 39 | MP0002161_abnormal_fertility/fecundity | 1.38739512 |
| 40 | MP0002064_seizures | 1.38398070 |
| 41 | MP0001963_abnormal_hearing_physiology | 1.38396295 |
| 42 | MP0002210_abnormal_sex_determination | 1.38312162 |
| 43 | MP0002572_abnormal_emotion/affect_behav | 1.37569661 |
| 44 | MP0009780_abnormal_chondrocyte_physiolo | 1.36212997 |
| 45 | MP0000579_abnormal_nail_morphology | 1.35599214 |
| 46 | MP0004043_abnormal_pH_regulation | 1.35578385 |
| 47 | MP0000049_abnormal_middle_ear | 1.34086296 |
| 48 | MP0005551_abnormal_eye_electrophysiolog | 1.33512017 |
| 49 | MP0002233_abnormal_nose_morphology | 1.30903416 |
| 50 | MP0000762_abnormal_tongue_morphology | 1.30124058 |
| 51 | MP0000026_abnormal_inner_ear | 1.26483298 |
| 52 | MP0003119_abnormal_digestive_system | 1.24001032 |
| 53 | MP0002234_abnormal_pharynx_morphology | 1.22968577 |
| 54 | MP0001299_abnormal_eye_distance/ | 1.21876815 |
| 55 | MP0002249_abnormal_larynx_morphology | 1.20965691 |
| 56 | MP0004270_analgesia | 1.14118644 |
| 57 | MP0005395_other_phenotype | 1.12117320 |
| 58 | MP0002638_abnormal_pupillary_reflex | 1.11511131 |
| 59 | MP0005423_abnormal_somatic_nervous | 1.11078838 |
| 60 | MP0002063_abnormal_learning/memory/cond | 1.10904564 |
| 61 | MP0000653_abnormal_sex_gland | 1.10358416 |
| 62 | MP0005623_abnormal_meninges_morphology | 1.08722371 |
| 63 | MP0005646_abnormal_pituitary_gland | 1.06456287 |
| 64 | MP0001145_abnormal_male_reproductive | 1.05448266 |
| 65 | MP0002557_abnormal_social/conspecific_i | 1.04848933 |
| 66 | MP0002736_abnormal_nociception_after | 1.03938796 |
| 67 | MP0002067_abnormal_sensory_capabilities | 1.03240499 |
| 68 | MP0000631_abnormal_neuroendocrine_gland | 1.02771608 |
| 69 | MP0000955_abnormal_spinal_cord | 1.01598115 |
| 70 | MP0003941_abnormal_skin_development | 0.99817940 |
| 71 | MP0000778_abnormal_nervous_system | 0.96628613 |
| 72 | MP0001970_abnormal_pain_threshold | 0.96626967 |
| 73 | MP0004742_abnormal_vestibular_system | 0.94240050 |
| 74 | MP0004019_abnormal_vitamin_homeostasis | 0.90769554 |
| 75 | MP0003937_abnormal_limbs/digits/tail_de | 0.90646574 |
| 76 | MP0001905_abnormal_dopamine_level | 0.90589947 |
| 77 | MP0010386_abnormal_urinary_bladder | 0.90443061 |
| 78 | MP0001502_abnormal_circadian_rhythm | 0.88824347 |
| 79 | MP0000678_abnormal_parathyroid_gland | 0.87363090 |
| 80 | MP0008569_lethality_at_weaning | 0.87246912 |
| 81 | MP0004142_abnormal_muscle_tone | 0.85667001 |
| 82 | MP0005253_abnormal_eye_physiology | 0.84963369 |
| 83 | MP0000383_abnormal_hair_follicle | 0.84319585 |
| 84 | MP0002882_abnormal_neuron_morphology | 0.83506022 |
| 85 | MP0002752_abnormal_somatic_nervous | 0.83283252 |
| 86 | MP0002229_neurodegeneration | 0.82261907 |
| 87 | MP0006276_abnormal_autonomic_nervous | 0.81995066 |
| 88 | MP0003861_abnormal_nervous_system | 0.81195101 |
| 89 | MP0002733_abnormal_thermal_nociception | 0.79069162 |
| 90 | MP0002928_abnormal_bile_duct | 0.78052665 |
| 91 | MP0010368_abnormal_lymphatic_system | 0.77812047 |
| 92 | MP0002139_abnormal_hepatobiliary_system | 0.77244436 |
| 93 | MP0001501_abnormal_sleep_pattern | 0.77225144 |
| 94 | MP0002152_abnormal_brain_morphology | 0.73340384 |
| 95 | MP0005389_reproductive_system_phenotype | 0.72699763 |
| 96 | MP0002084_abnormal_developmental_patter | 0.72366100 |
| 97 | MP0001188_hyperpigmentation | 0.72349074 |
| 98 | MP0006072_abnormal_retinal_apoptosis | 0.69777970 |
| 99 | MP0003938_abnormal_ear_development | 0.68948758 |
| 100 | MP0001286_abnormal_eye_development | 0.68481581 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 9.78365663 |
| 2 | Abnormal respiratory motile cilium physiology (HP:0012261) | 8.98398023 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 8.83464764 |
| 4 | Absent/shortened dynein arms (HP:0200106) | 8.83464764 |
| 5 | Abnormal ciliary motility (HP:0012262) | 8.80888509 |
| 6 | Abnormal respiratory motile cilium morphology (HP:0005938) | 8.59871984 |
| 7 | Abnormal respiratory epithelium morphology (HP:0012253) | 8.59871984 |
| 8 | Rhinitis (HP:0012384) | 7.78865212 |
| 9 | Chronic bronchitis (HP:0004469) | 6.00103465 |
| 10 | Bronchiectasis (HP:0002110) | 5.27813097 |
| 11 | Infertility (HP:0000789) | 4.55586610 |
| 12 | Nasal polyposis (HP:0100582) | 4.34727283 |
| 13 | Male infertility (HP:0003251) | 4.27004613 |
| 14 | Chronic hepatic failure (HP:0100626) | 3.99971267 |
| 15 | Pancreatic fibrosis (HP:0100732) | 3.69184935 |
| 16 | Tubulointerstitial nephritis (HP:0001970) | 3.53453698 |
| 17 | True hermaphroditism (HP:0010459) | 3.50036846 |
| 18 | Abnormality of the nasal mucosa (HP:0000433) | 3.44789795 |
| 19 | Occipital encephalocele (HP:0002085) | 3.29438718 |
| 20 | Nephronophthisis (HP:0000090) | 3.13113870 |
| 21 | Molar tooth sign on MRI (HP:0002419) | 3.00274555 |
| 22 | Abnormality of midbrain morphology (HP:0002418) | 3.00274555 |
| 23 | Chronic sinusitis (HP:0011109) | 2.79965192 |
| 24 | Pancreatic cysts (HP:0001737) | 2.75556347 |
| 25 | Bronchitis (HP:0012387) | 2.68330712 |
| 26 | Cystic liver disease (HP:0006706) | 2.64932097 |
| 27 | Abnormality of the renal medulla (HP:0100957) | 2.58971910 |
| 28 | Myokymia (HP:0002411) | 2.51955688 |
| 29 | Median cleft lip (HP:0000161) | 2.46496274 |
| 30 | Supernumerary spleens (HP:0009799) | 2.39291533 |
| 31 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 2.37772380 |
| 32 | Recurrent sinusitis (HP:0011108) | 2.36027719 |
| 33 | Medial flaring of the eyebrow (HP:0010747) | 2.30105154 |
| 34 | Recurrent otitis media (HP:0000403) | 2.29516567 |
| 35 | Postaxial foot polydactyly (HP:0001830) | 2.27311750 |
| 36 | Anencephaly (HP:0002323) | 2.25001472 |
| 37 | Bell-shaped thorax (HP:0001591) | 2.19088268 |
| 38 | Male pseudohermaphroditism (HP:0000037) | 2.14522636 |
| 39 | Congenital hepatic fibrosis (HP:0002612) | 2.06832600 |
| 40 | Progressive cerebellar ataxia (HP:0002073) | 2.04323230 |
| 41 | Septo-optic dysplasia (HP:0100842) | 2.04133274 |
| 42 | Sclerocornea (HP:0000647) | 2.03710172 |
| 43 | Gait imbalance (HP:0002141) | 2.01447250 |
| 44 | Tubular atrophy (HP:0000092) | 1.99724528 |
| 45 | Genital tract atresia (HP:0001827) | 1.99131373 |
| 46 | Tubulointerstitial abnormality (HP:0001969) | 1.97502827 |
| 47 | Atonic seizures (HP:0010819) | 1.96552527 |
| 48 | Congenital primary aphakia (HP:0007707) | 1.96156534 |
| 49 | Nephrogenic diabetes insipidus (HP:0009806) | 1.89336860 |
| 50 | Abnormal drinking behavior (HP:0030082) | 1.86036504 |
| 51 | Polydipsia (HP:0001959) | 1.86036504 |
| 52 | Vaginal atresia (HP:0000148) | 1.85754091 |
| 53 | Postaxial hand polydactyly (HP:0001162) | 1.84577079 |
| 54 | Anophthalmia (HP:0000528) | 1.83126149 |
| 55 | Hyperkalemia (HP:0002153) | 1.80090447 |
| 56 | Abnormality of the labia minora (HP:0012880) | 1.79258762 |
| 57 | Atelectasis (HP:0100750) | 1.78004600 |
| 58 | Action tremor (HP:0002345) | 1.72747912 |
| 59 | Hyperactive renin-angiotensin system (HP:0000841) | 1.70991162 |
| 60 | Maternal diabetes (HP:0009800) | 1.69361622 |
| 61 | Focal motor seizures (HP:0011153) | 1.68931020 |
| 62 | Preaxial hand polydactyly (HP:0001177) | 1.67029222 |
| 63 | Abnormality of macular pigmentation (HP:0008002) | 1.66553251 |
| 64 | Osteomalacia (HP:0002749) | 1.65595419 |
| 65 | Oculomotor apraxia (HP:0000657) | 1.64437929 |
| 66 | Stage 5 chronic kidney disease (HP:0003774) | 1.63850851 |
| 67 | Poor coordination (HP:0002370) | 1.59904938 |
| 68 | Abdominal situs inversus (HP:0003363) | 1.58797813 |
| 69 | Abnormality of abdominal situs (HP:0011620) | 1.58797813 |
| 70 | Abnormality of permanent molar morphology (HP:0011071) | 1.58480669 |
| 71 | Abnormality of the dental root (HP:0006486) | 1.58480669 |
| 72 | Taurodontia (HP:0000679) | 1.58480669 |
| 73 | Chronic otitis media (HP:0000389) | 1.57196658 |
| 74 | Oligodactyly (hands) (HP:0001180) | 1.55218093 |
| 75 | Esophageal atresia (HP:0002032) | 1.54876537 |
| 76 | Renal dysplasia (HP:0000110) | 1.53853759 |
| 77 | Optic nerve hypoplasia (HP:0000609) | 1.52033525 |
| 78 | Abnormality of the dental pulp (HP:0006479) | 1.50339897 |
| 79 | Gastrointestinal atresia (HP:0002589) | 1.49643698 |
| 80 | Severe visual impairment (HP:0001141) | 1.49594403 |
| 81 | Abnormality of the middle phalanges of the toes (HP:0010183) | 1.49464635 |
| 82 | Cone-rod dystrophy (HP:0000548) | 1.47189147 |
| 83 | Absent septum pellucidum (HP:0001331) | 1.47181406 |
| 84 | Abnormality of molar (HP:0011077) | 1.46075127 |
| 85 | Abnormality of molar morphology (HP:0011070) | 1.46075127 |
| 86 | Abnormal biliary tract physiology (HP:0012439) | 1.44724518 |
| 87 | Bile duct proliferation (HP:0001408) | 1.44724518 |
| 88 | Impulsivity (HP:0100710) | 1.41130215 |
| 89 | Bifid scrotum (HP:0000048) | 1.40640645 |
| 90 | Lip pit (HP:0100267) | 1.39935046 |
| 91 | Hyperaldosteronism (HP:0000859) | 1.39624740 |
| 92 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.38418149 |
| 93 | Labial hypoplasia (HP:0000066) | 1.38122306 |
| 94 | Polyuria (HP:0000103) | 1.36596134 |
| 95 | Furrowed tongue (HP:0000221) | 1.36074820 |
| 96 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.35979188 |
| 97 | Hypoplastic labia majora (HP:0000059) | 1.35355438 |
| 98 | Bony spicule pigmentary retinopathy (HP:0007737) | 1.35296760 |
| 99 | Recurrent corneal erosions (HP:0000495) | 1.34937922 |
| 100 | Partial duplication of thumb phalanx (HP:0009944) | 1.33600955 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MAPK15 | 6.94928797 |
| 2 | PNCK | 4.57667606 |
| 3 | PLK4 | 3.05066141 |
| 4 | MAP3K9 | 2.54254620 |
| 5 | MST4 | 2.37828396 |
| 6 | EPHA4 | 2.17748944 |
| 7 | TSSK6 | 2.14585852 |
| 8 | NEK6 | 2.06524830 |
| 9 | STK38L | 1.88938286 |
| 10 | TTK | 1.83348839 |
| 11 | ARAF | 1.79638188 |
| 12 | PLK2 | 1.73021163 |
| 13 | PRKD3 | 1.60162103 |
| 14 | PINK1 | 1.49959628 |
| 15 | MAP4K2 | 1.44005830 |
| 16 | STK38 | 1.41611730 |
| 17 | EIF2AK3 | 1.41032159 |
| 18 | TNIK | 1.40156037 |
| 19 | BMPR1B | 1.38089746 |
| 20 | NTRK3 | 1.36635861 |
| 21 | STK39 | 1.35414941 |
| 22 | MAPKAPK5 | 1.26231260 |
| 23 | WEE1 | 1.22994424 |
| 24 | CASK | 1.20734908 |
| 25 | CDK19 | 1.20302693 |
| 26 | MAP3K12 | 1.19667078 |
| 27 | MAP3K4 | 1.18728109 |
| 28 | CDC7 | 1.13276175 |
| 29 | INSRR | 1.13065727 |
| 30 | NTRK2 | 1.07347138 |
| 31 | VRK1 | 1.07330581 |
| 32 | MET | 1.05264044 |
| 33 | STK24 | 1.05138855 |
| 34 | PBK | 1.02279308 |
| 35 | LATS2 | 0.99761677 |
| 36 | EPHA2 | 0.98742345 |
| 37 | PRKCG | 0.98198159 |
| 38 | PTK2B | 0.97348791 |
| 39 | MKNK1 | 0.92640249 |
| 40 | TIE1 | 0.90838136 |
| 41 | OXSR1 | 0.89245828 |
| 42 | AURKA | 0.87430943 |
| 43 | PLK1 | 0.86481549 |
| 44 | PLK3 | 0.86290592 |
| 45 | BRAF | 0.85409900 |
| 46 | DMPK | 0.83900320 |
| 47 | TGFBR1 | 0.83390511 |
| 48 | LATS1 | 0.83239923 |
| 49 | MAP3K2 | 0.83010700 |
| 50 | ACVR1B | 0.81848723 |
| 51 | TYRO3 | 0.80455801 |
| 52 | ZAK | 0.79716393 |
| 53 | CAMK1G | 0.79621733 |
| 54 | CAMK2A | 0.77651307 |
| 55 | MUSK | 0.75185101 |
| 56 | UHMK1 | 0.73904864 |
| 57 | WNK3 | 0.73682803 |
| 58 | TESK1 | 0.73436240 |
| 59 | NLK | 0.68935994 |
| 60 | CDK3 | 0.68602834 |
| 61 | MAPKAPK3 | 0.67277125 |
| 62 | WNK4 | 0.66829404 |
| 63 | SGK223 | 0.66199952 |
| 64 | SGK494 | 0.66199952 |
| 65 | PRKCI | 0.63896147 |
| 66 | PRKG1 | 0.63705854 |
| 67 | TLK1 | 0.62530063 |
| 68 | MAP2K7 | 0.60681220 |
| 69 | CAMK1 | 0.60080505 |
| 70 | PRKCQ | 0.59239293 |
| 71 | WNK1 | 0.58817358 |
| 72 | SGK1 | 0.57416512 |
| 73 | MINK1 | 0.55003825 |
| 74 | MAPK13 | 0.54825182 |
| 75 | LMTK2 | 0.53021067 |
| 76 | NME1 | 0.52911567 |
| 77 | ROCK1 | 0.51700875 |
| 78 | MAP3K13 | 0.51261232 |
| 79 | DYRK1A | 0.50256705 |
| 80 | BRSK2 | 0.48945770 |
| 81 | CSNK1E | 0.46924970 |
| 82 | CDK5 | 0.46380307 |
| 83 | PRKCE | 0.46365995 |
| 84 | MKNK2 | 0.45740119 |
| 85 | PRKCZ | 0.43651580 |
| 86 | MST1R | 0.43394421 |
| 87 | BRSK1 | 0.41291467 |
| 88 | GRK5 | 0.40689866 |
| 89 | DDR2 | 0.39996198 |
| 90 | KSR2 | 0.38616827 |
| 91 | FGFR2 | 0.38020541 |
| 92 | ADRBK2 | 0.37748347 |
| 93 | CAMK2G | 0.37431155 |
| 94 | PRKACA | 0.37125577 |
| 95 | PAK6 | 0.35707093 |
| 96 | NTRK1 | 0.33640383 |
| 97 | CSNK1G1 | 0.33316586 |
| 98 | SGK2 | 0.32520747 |
| 99 | BRD4 | 0.32216320 |
| 100 | RPS6KA3 | 0.31339650 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Nicotine addiction_Homo sapiens_hsa05033 | 3.09892982 |
| 2 | Olfactory transduction_Homo sapiens_hsa04740 | 2.41817682 |
| 3 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 2.37460066 |
| 4 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 2.33297556 |
| 5 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 2.29074678 |
| 6 | Histidine metabolism_Homo sapiens_hsa00340 | 2.19958890 |
| 7 | Huntingtons disease_Homo sapiens_hsa05016 | 2.15673875 |
| 8 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 2.07710399 |
| 9 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 2.02501062 |
| 10 | Taste transduction_Homo sapiens_hsa04742 | 1.90193064 |
| 11 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.83461946 |
| 12 | Basal transcription factors_Homo sapiens_hsa03022 | 1.81702164 |
| 13 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.76195236 |
| 14 | Phototransduction_Homo sapiens_hsa04744 | 1.67450222 |
| 15 | Salivary secretion_Homo sapiens_hsa04970 | 1.62070146 |
| 16 | Circadian entrainment_Homo sapiens_hsa04713 | 1.60430037 |
| 17 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.60112246 |
| 18 | GABAergic synapse_Homo sapiens_hsa04727 | 1.57553024 |
| 19 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.53873951 |
| 20 | Morphine addiction_Homo sapiens_hsa05032 | 1.51066082 |
| 21 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.46830320 |
| 22 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.42349093 |
| 23 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.38696568 |
| 24 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.38136993 |
| 25 | Tight junction_Homo sapiens_hsa04530 | 1.37854426 |
| 26 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.37733206 |
| 27 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.35798666 |
| 28 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.34979804 |
| 29 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.34329388 |
| 30 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.30594360 |
| 31 | Insulin secretion_Homo sapiens_hsa04911 | 1.28535650 |
| 32 | Gastric acid secretion_Homo sapiens_hsa04971 | 1.27161043 |
| 33 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.24484517 |
| 34 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.18514324 |
| 35 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.18472885 |
| 36 | Retinol metabolism_Homo sapiens_hsa00830 | 1.18032620 |
| 37 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.16030587 |
| 38 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.14687789 |
| 39 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.14263041 |
| 40 | cAMP signaling pathway_Homo sapiens_hsa04024 | 1.11515324 |
| 41 | Circadian rhythm_Homo sapiens_hsa04710 | 1.10431153 |
| 42 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.09488996 |
| 43 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.07052114 |
| 44 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.05525543 |
| 45 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.04499838 |
| 46 | Wnt signaling pathway_Homo sapiens_hsa04310 | 1.03580906 |
| 47 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.99225048 |
| 48 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.97016348 |
| 49 | Cocaine addiction_Homo sapiens_hsa05030 | 0.96582595 |
| 50 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.92918441 |
| 51 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.89416819 |
| 52 | Gap junction_Homo sapiens_hsa04540 | 0.88460207 |
| 53 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.87587894 |
| 54 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.85930186 |
| 55 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.85608473 |
| 56 | Bile secretion_Homo sapiens_hsa04976 | 0.85403307 |
| 57 | Long-term potentiation_Homo sapiens_hsa04720 | 0.85393967 |
| 58 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.83989892 |
| 59 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.83536994 |
| 60 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.82982806 |
| 61 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.82110634 |
| 62 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.81470931 |
| 63 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.81034750 |
| 64 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.79973983 |
| 65 | Adherens junction_Homo sapiens_hsa04520 | 0.79357038 |
| 66 | RNA degradation_Homo sapiens_hsa03018 | 0.76649856 |
| 67 | ABC transporters_Homo sapiens_hsa02010 | 0.76425731 |
| 68 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.75023988 |
| 69 | Parkinsons disease_Homo sapiens_hsa05012 | 0.73855311 |
| 70 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.71474028 |
| 71 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.71467727 |
| 72 | Long-term depression_Homo sapiens_hsa04730 | 0.70490198 |
| 73 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.69768659 |
| 74 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.69750531 |
| 75 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.68341239 |
| 76 | Mismatch repair_Homo sapiens_hsa03430 | 0.68320320 |
| 77 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.67732947 |
| 78 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.67322426 |
| 79 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.66934042 |
| 80 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.65827148 |
| 81 | RNA transport_Homo sapiens_hsa03013 | 0.64521066 |
| 82 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.64022690 |
| 83 | Cell cycle_Homo sapiens_hsa04110 | 0.62898331 |
| 84 | Alzheimers disease_Homo sapiens_hsa05010 | 0.62396817 |
| 85 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.60534759 |
| 86 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.60465747 |
| 87 | Melanogenesis_Homo sapiens_hsa04916 | 0.60416502 |
| 88 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.59802165 |
| 89 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.59411219 |
| 90 | Ribosome_Homo sapiens_hsa03010 | 0.57170900 |
| 91 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.56666992 |
| 92 | Axon guidance_Homo sapiens_hsa04360 | 0.54925936 |
| 93 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.54269804 |
| 94 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.53908035 |
| 95 | Renin secretion_Homo sapiens_hsa04924 | 0.52270479 |
| 96 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.51493768 |
| 97 | Peroxisome_Homo sapiens_hsa04146 | 0.49176980 |
| 98 | Base excision repair_Homo sapiens_hsa03410 | 0.49106438 |
| 99 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.47746863 |
| 100 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.47485441 |

