

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ventricular system development (GO:0021591) | 7.99123819 |
| 2 | sperm motility (GO:0030317) | 6.77622625 |
| 3 | axoneme assembly (GO:0035082) | 6.69731428 |
| 4 | regulation of cilium movement (GO:0003352) | 6.54926372 |
| 5 | intraciliary transport (GO:0042073) | 6.05860579 |
| 6 | cilium organization (GO:0044782) | 5.69305032 |
| 7 | cilium assembly (GO:0042384) | 5.58573424 |
| 8 | left/right axis specification (GO:0070986) | 5.58304976 |
| 9 | acrosome reaction (GO:0007340) | 4.72155186 |
| 10 | cilium morphogenesis (GO:0060271) | 4.64321525 |
| 11 | left/right pattern formation (GO:0060972) | 4.47296075 |
| 12 | sperm capacitation (GO:0048240) | 4.47261526 |
| 13 | negative regulation of inclusion body assembly (GO:0090084) | 4.45315448 |
| 14 | cellular component assembly involved in morphogenesis (GO:0010927) | 4.44666172 |
| 15 | multicellular organism reproduction (GO:0032504) | 4.34029704 |
| 16 | spermatid development (GO:0007286) | 4.33712172 |
| 17 | protein localization to cilium (GO:0061512) | 4.19836625 |
| 18 | protein polyglutamylation (GO:0018095) | 4.16851839 |
| 19 | microtubule-based movement (GO:0007018) | 4.06666374 |
| 20 | microtubule depolymerization (GO:0007019) | 3.96415707 |
| 21 | microtubule bundle formation (GO:0001578) | 3.91923012 |
| 22 | regulation of microtubule-based movement (GO:0060632) | 3.75162504 |
| 23 | photoreceptor cell maintenance (GO:0045494) | 3.72624129 |
| 24 | intra-S DNA damage checkpoint (GO:0031573) | 3.68976722 |
| 25 | microtubule polymerization or depolymerization (GO:0031109) | 3.68295040 |
| 26 | one-carbon compound transport (GO:0019755) | 3.67787819 |
| 27 | sperm-egg recognition (GO:0035036) | 3.60329129 |
| 28 | cell projection assembly (GO:0030031) | 3.57862211 |
| 29 | imidazole-containing compound metabolic process (GO:0052803) | 3.49801507 |
| 30 | determination of left/right symmetry (GO:0007368) | 3.40292223 |
| 31 | retinal rod cell development (GO:0046548) | 3.40285015 |
| 32 | regulation of interleukin-5 production (GO:0032674) | 3.38357774 |
| 33 | binding of sperm to zona pellucida (GO:0007339) | 3.37226724 |
| 34 | centriole assembly (GO:0098534) | 3.35877530 |
| 35 | single fertilization (GO:0007338) | 3.30335941 |
| 36 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.30261458 |
| 37 | determination of bilateral symmetry (GO:0009855) | 3.25432734 |
| 38 | regulation of interleukin-13 production (GO:0032656) | 3.24088553 |
| 39 | fusion of sperm to egg plasma membrane (GO:0007342) | 3.20534605 |
| 40 | microtubule severing (GO:0051013) | 3.20044581 |
| 41 | gamma-aminobutyric acid transport (GO:0015812) | 3.19432543 |
| 42 | specification of symmetry (GO:0009799) | 3.18255953 |
| 43 | reproduction (GO:0000003) | 3.16411086 |
| 44 | tryptophan catabolic process (GO:0006569) | 3.15117181 |
| 45 | indole-containing compound catabolic process (GO:0042436) | 3.15117181 |
| 46 | indolalkylamine catabolic process (GO:0046218) | 3.15117181 |
| 47 | sex differentiation (GO:0007548) | 3.07339629 |
| 48 | nonmotile primary cilium assembly (GO:0035058) | 3.05094017 |
| 49 | smoothened signaling pathway (GO:0007224) | 3.00811726 |
| 50 | acrosome assembly (GO:0001675) | 2.99523263 |
| 51 | regulation of inclusion body assembly (GO:0090083) | 2.99061838 |
| 52 | cell-cell recognition (GO:0009988) | 2.98951976 |
| 53 | interkinetic nuclear migration (GO:0022027) | 2.81639126 |
| 54 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 2.79782023 |
| 55 | lateral ventricle development (GO:0021670) | 2.77702075 |
| 56 | regulation of cilium assembly (GO:1902017) | 2.76514743 |
| 57 | phosphatidylethanolamine metabolic process (GO:0046337) | 2.74712819 |
| 58 | organic cation transport (GO:0015695) | 2.68416644 |
| 59 | negative regulation of cytosolic calcium ion concentration (GO:0051481) | 2.67693432 |
| 60 | organelle assembly (GO:0070925) | 2.66156820 |
| 61 | appendage development (GO:0048736) | 2.65950485 |
| 62 | limb development (GO:0060173) | 2.65950485 |
| 63 | ADP metabolic process (GO:0046031) | 2.65222290 |
| 64 | regulation of establishment of cell polarity (GO:2000114) | 2.64748127 |
| 65 | microtubule-based process (GO:0007017) | 2.58166128 |
| 66 | single strand break repair (GO:0000012) | 2.57859812 |
| 67 | positive regulation of phosphoprotein phosphatase activity (GO:0032516) | 2.57366588 |
| 68 | coenzyme catabolic process (GO:0009109) | 2.55784442 |
| 69 | cranial nerve morphogenesis (GO:0021602) | 2.54144148 |
| 70 | nucleoside diphosphate phosphorylation (GO:0006165) | 2.53551172 |
| 71 | spermatogenesis (GO:0007283) | 2.52746149 |
| 72 | male gamete generation (GO:0048232) | 2.52028647 |
| 73 | tryptophan metabolic process (GO:0006568) | 2.51032442 |
| 74 | regulation of autophagic vacuole assembly (GO:2000785) | 2.48876171 |
| 75 | male meiosis (GO:0007140) | 2.48782875 |
| 76 | calcium ion-dependent exocytosis (GO:0017156) | 2.48524351 |
| 77 | response to pheromone (GO:0019236) | 2.47699175 |
| 78 | membrane depolarization during action potential (GO:0086010) | 2.46986621 |
| 79 | fertilization (GO:0009566) | 2.45286374 |
| 80 | androgen biosynthetic process (GO:0006702) | 2.45011500 |
| 81 | negative regulation of multicellular organism growth (GO:0040015) | 2.44966824 |
| 82 | positive regulation of catecholamine secretion (GO:0033605) | 2.41865872 |
| 83 | centriole replication (GO:0007099) | 2.41379617 |
| 84 | gamete generation (GO:0007276) | 2.36304089 |
| 85 | regulation of smoothened signaling pathway (GO:0008589) | 2.35058444 |
| 86 | germ cell development (GO:0007281) | 2.34666117 |
| 87 | retinal cone cell development (GO:0046549) | 2.34257196 |
| 88 | regulation of vacuole organization (GO:0044088) | 2.33275408 |
| 89 | plasma membrane fusion (GO:0045026) | 2.32360573 |
| 90 | glomerular epithelial cell development (GO:0072310) | 2.32224882 |
| 91 | auditory behavior (GO:0031223) | 2.30462998 |
| 92 | spermatid nucleus differentiation (GO:0007289) | 2.29916733 |
| 93 | cell wall macromolecule metabolic process (GO:0044036) | 2.28982002 |
| 94 | regulation of action potential (GO:0098900) | 2.27238460 |
| 95 | cilium or flagellum-dependent cell motility (GO:0001539) | 15.5139001 |
| 96 | axonemal dynein complex assembly (GO:0070286) | 14.4603353 |
| 97 | cilium movement (GO:0003341) | 13.0237905 |
| 98 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 11.9611826 |
| 99 | motile cilium assembly (GO:0044458) | 11.0509181 |
| 100 | epithelial cilium movement (GO:0003351) | 10.6541217 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | GBX2_23144817_ChIP-Seq_PC3_Human | 4.26300720 |
| 2 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 4.05082702 |
| 3 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.29466715 |
| 4 | IGF1R_20145208_ChIP-Seq_DFB_Human | 3.03245981 |
| 5 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.90427953 |
| 6 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.83969983 |
| 7 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.65034806 |
| 8 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.62524949 |
| 9 | FUS_26573619_Chip-Seq_HEK293_Human | 2.41423743 |
| 10 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.35425858 |
| 11 | VDR_22108803_ChIP-Seq_LS180_Human | 2.29686671 |
| 12 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 2.23565109 |
| 13 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.16656429 |
| 14 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.11353865 |
| 15 | AR_21572438_ChIP-Seq_LNCaP_Human | 2.08810219 |
| 16 | SMAD4_21799915_ChIP-Seq_A2780_Human | 2.07784804 |
| 17 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 2.05519721 |
| 18 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 2.02981061 |
| 19 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.93556142 |
| 20 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.91930324 |
| 21 | STAT3_23295773_ChIP-Seq_U87_Human | 1.91213177 |
| 22 | P300_19829295_ChIP-Seq_ESCs_Human | 1.85902133 |
| 23 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.84013464 |
| 24 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.81106207 |
| 25 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.81106207 |
| 26 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.80532737 |
| 27 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.79998256 |
| 28 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.79998256 |
| 29 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.79235258 |
| 30 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.76877531 |
| 31 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.74147049 |
| 32 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.69549737 |
| 33 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.67602925 |
| 34 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.67350683 |
| 35 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.66263538 |
| 36 | TCF4_23295773_ChIP-Seq_U87_Human | 1.62659599 |
| 37 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.62135420 |
| 38 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.61054459 |
| 39 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.56336897 |
| 40 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.54123862 |
| 41 | AR_25329375_ChIP-Seq_VCAP_Human | 1.50718946 |
| 42 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.49322540 |
| 43 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.49297551 |
| 44 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.48014844 |
| 45 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.45830650 |
| 46 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.42988583 |
| 47 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.36181792 |
| 48 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.35897535 |
| 49 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.33082529 |
| 50 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.31807307 |
| 51 | FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.31379719 |
| 52 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.31189783 |
| 53 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.30373600 |
| 54 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.29532411 |
| 55 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.28145506 |
| 56 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.26182801 |
| 57 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.26033745 |
| 58 | TBL1_22424771_ChIP-Seq_293T_Human | 1.25339960 |
| 59 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.24701273 |
| 60 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.20858611 |
| 61 | FOXM1_26456572_ChIP-Seq_MCF-7_Human | 1.17339306 |
| 62 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.16670647 |
| 63 | EWS_26573619_Chip-Seq_HEK293_Human | 1.16518910 |
| 64 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.14783775 |
| 65 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.13649945 |
| 66 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.12147905 |
| 67 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.11860698 |
| 68 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.11275078 |
| 69 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.10649049 |
| 70 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.10462172 |
| 71 | NFYB_21822215_ChIP-Seq_K562_Human | 1.08970887 |
| 72 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.06990389 |
| 73 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.06716366 |
| 74 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.06014268 |
| 75 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.05496949 |
| 76 | AR_19668381_ChIP-Seq_PC3_Human | 1.05133953 |
| 77 | RXR_22108803_ChIP-Seq_LS180_Human | 1.04723285 |
| 78 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.03869227 |
| 79 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.03413863 |
| 80 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.02767912 |
| 81 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.02336276 |
| 82 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.02336276 |
| 83 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.01859679 |
| 84 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.01435606 |
| 85 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.01278979 |
| 86 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 1.01008410 |
| 87 | CDX2_22108803_ChIP-Seq_LS180_Human | 0.99817035 |
| 88 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 0.99619337 |
| 89 | TP53_16413492_ChIP-PET_HCT116_Human | 0.99516269 |
| 90 | TP63_23658742_ChIP-Seq_EP156T_Human | 0.98623238 |
| 91 | NFYA_21822215_ChIP-Seq_K562_Human | 0.98309641 |
| 92 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 0.96544731 |
| 93 | ERA_21632823_ChIP-Seq_H3396_Human | 0.96458534 |
| 94 | SMRT_27268052_Chip-Seq_Bcells_Human | 0.95972168 |
| 95 | ERG_20517297_ChIP-Seq_VCAP_Human | 0.95155740 |
| 96 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 0.95000627 |
| 97 | OCT4_20526341_ChIP-Seq_ESCs_Human | 0.94521306 |
| 98 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 0.94491962 |
| 99 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 0.94423032 |
| 100 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 0.92258545 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0002653_abnormal_ependyma_morphology | 5.82263500 |
| 2 | MP0000569_abnormal_digit_pigmentation | 5.62654101 |
| 3 | MP0005410_abnormal_fertilization | 4.22835404 |
| 4 | MP0005623_abnormal_meninges_morphology | 3.41000373 |
| 5 | MP0001984_abnormal_olfaction | 3.10422734 |
| 6 | MP0005423_abnormal_somatic_nervous | 2.71890629 |
| 7 | MP0001485_abnormal_pinna_reflex | 2.50923184 |
| 8 | MP0003698_abnormal_male_reproductive | 2.23426080 |
| 9 | MP0002282_abnormal_trachea_morphology | 2.20137932 |
| 10 | MP0003136_yellow_coat_color | 2.16403138 |
| 11 | MP0009046_muscle_twitch | 2.12334423 |
| 12 | MP0003879_abnormal_hair_cell | 2.09161429 |
| 13 | MP0002132_abnormal_respiratory_system | 2.07693429 |
| 14 | MP0003880_abnormal_central_pattern | 2.01386411 |
| 15 | MP0003011_delayed_dark_adaptation | 1.98665479 |
| 16 | MP0005646_abnormal_pituitary_gland | 1.96783834 |
| 17 | MP0000566_synostosis | 1.82739123 |
| 18 | MP0001529_abnormal_vocalization | 1.79793912 |
| 19 | MP0003878_abnormal_ear_physiology | 1.79569177 |
| 20 | MP0005377_hearing/vestibular/ear_phenot | 1.79569177 |
| 21 | MP0001929_abnormal_gametogenesis | 1.71403970 |
| 22 | MP0004859_abnormal_synaptic_plasticity | 1.70707320 |
| 23 | MP0002638_abnormal_pupillary_reflex | 1.69254923 |
| 24 | MP0005253_abnormal_eye_physiology | 1.63808235 |
| 25 | MP0005551_abnormal_eye_electrophysiolog | 1.63483623 |
| 26 | MP0001968_abnormal_touch/_nociception | 1.63133710 |
| 27 | MP0001486_abnormal_startle_reflex | 1.59285383 |
| 28 | MP0005174_abnormal_tail_pigmentation | 1.55140463 |
| 29 | MP0010386_abnormal_urinary_bladder | 1.54209963 |
| 30 | MP0002160_abnormal_reproductive_system | 1.54199376 |
| 31 | MP0000026_abnormal_inner_ear | 1.47815303 |
| 32 | MP0002736_abnormal_nociception_after | 1.45299372 |
| 33 | MP0004133_heterotaxia | 1.39219933 |
| 34 | MP0004742_abnormal_vestibular_system | 1.36611861 |
| 35 | MP0002734_abnormal_mechanical_nocicepti | 1.35100864 |
| 36 | MP0002572_abnormal_emotion/affect_behav | 1.34643930 |
| 37 | MP0004270_analgesia | 1.31741138 |
| 38 | MP0005499_abnormal_olfactory_system | 1.31141590 |
| 39 | MP0005394_taste/olfaction_phenotype | 1.31141590 |
| 40 | MP0008875_abnormal_xenobiotic_pharmacok | 1.30062386 |
| 41 | MP0003633_abnormal_nervous_system | 1.24505342 |
| 42 | MP0002272_abnormal_nervous_system | 1.21152422 |
| 43 | MP0009745_abnormal_behavioral_response | 1.20967290 |
| 44 | MP0008789_abnormal_olfactory_epithelium | 1.20912850 |
| 45 | MP0004147_increased_porphyrin_level | 1.20675955 |
| 46 | MP0002161_abnormal_fertility/fecundity | 1.19182239 |
| 47 | MP0000383_abnormal_hair_follicle | 1.19162937 |
| 48 | MP0000631_abnormal_neuroendocrine_gland | 1.18511295 |
| 49 | MP0001970_abnormal_pain_threshold | 1.15827843 |
| 50 | MP0002735_abnormal_chemical_nociception | 1.12333614 |
| 51 | MP0001963_abnormal_hearing_physiology | 1.11808031 |
| 52 | MP0001293_anophthalmia | 1.10451436 |
| 53 | MP0003635_abnormal_synaptic_transmissio | 1.10334882 |
| 54 | MP0000427_abnormal_hair_cycle | 1.10120168 |
| 55 | MP0001501_abnormal_sleep_pattern | 1.08213143 |
| 56 | MP0005391_vision/eye_phenotype | 1.07258195 |
| 57 | MP0003252_abnormal_bile_duct | 1.05935640 |
| 58 | MP0003718_maternal_effect | 1.02670975 |
| 59 | MP0002822_catalepsy | 1.01808676 |
| 60 | MP0001905_abnormal_dopamine_level | 1.01372035 |
| 61 | MP0003315_abnormal_perineum_morphology | 1.00787570 |
| 62 | MP0008004_abnormal_stomach_pH | 1.00738900 |
| 63 | MP0003890_abnormal_embryonic-extraembry | 1.00114879 |
| 64 | MP0000778_abnormal_nervous_system | 1.00003698 |
| 65 | MP0004043_abnormal_pH_regulation | 0.98280374 |
| 66 | MP0002249_abnormal_larynx_morphology | 0.98101456 |
| 67 | MP0002067_abnormal_sensory_capabilities | 0.98078513 |
| 68 | MP0005389_reproductive_system_phenotype | 0.96287499 |
| 69 | MP0001986_abnormal_taste_sensitivity | 0.96096867 |
| 70 | MP0002210_abnormal_sex_determination | 0.94673127 |
| 71 | MP0006276_abnormal_autonomic_nervous | 0.94219115 |
| 72 | MP0002229_neurodegeneration | 0.93510090 |
| 73 | MP0003937_abnormal_limbs/digits/tail_de | 0.93268235 |
| 74 | MP0003631_nervous_system_phenotype | 0.90807095 |
| 75 | MP0010030_abnormal_orbit_morphology | 0.89874780 |
| 76 | MP0002063_abnormal_learning/memory/cond | 0.88783665 |
| 77 | MP0000955_abnormal_spinal_cord | 0.87118474 |
| 78 | MP0002064_seizures | 0.86622738 |
| 79 | MP0002233_abnormal_nose_morphology | 0.86268890 |
| 80 | MP0005647_abnormal_sex_gland | 0.85049234 |
| 81 | MP0001145_abnormal_male_reproductive | 0.83657852 |
| 82 | MP0005670_abnormal_white_adipose | 0.83149879 |
| 83 | MP0002882_abnormal_neuron_morphology | 0.80375811 |
| 84 | MP0006072_abnormal_retinal_apoptosis | 0.80146994 |
| 85 | MP0005248_abnormal_Harderian_gland | 0.79056646 |
| 86 | MP0002752_abnormal_somatic_nervous | 0.77446963 |
| 87 | MP0002557_abnormal_social/conspecific_i | 0.76191674 |
| 88 | MP0000653_abnormal_sex_gland | 0.75791116 |
| 89 | MP0001664_abnormal_digestion | 0.75584353 |
| 90 | MP0000049_abnormal_middle_ear | 0.75405003 |
| 91 | MP0002733_abnormal_thermal_nociception | 0.75219821 |
| 92 | MP0002277_abnormal_respiratory_mucosa | 0.75154736 |
| 93 | MP0005195_abnormal_posterior_eye | 0.74615651 |
| 94 | MP0002928_abnormal_bile_duct | 0.74442746 |
| 95 | MP0001502_abnormal_circadian_rhythm | 0.74420312 |
| 96 | MP0003938_abnormal_ear_development | 0.71905538 |
| 97 | MP0001919_abnormal_reproductive_system | 0.71076357 |
| 98 | MP0003119_abnormal_digestive_system | 0.70898575 |
| 99 | MP0002102_abnormal_ear_morphology | 0.70497040 |
| 100 | MP0005395_other_phenotype | 0.66398038 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal ciliary motility (HP:0012262) | 9.73868935 |
| 2 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.57779690 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 9.17661746 |
| 4 | Absent/shortened dynein arms (HP:0200106) | 9.17661746 |
| 5 | Abnormal respiratory motile cilium morphology (HP:0005938) | 7.95178750 |
| 6 | Abnormal respiratory epithelium morphology (HP:0012253) | 7.95178750 |
| 7 | Rhinitis (HP:0012384) | 7.88218976 |
| 8 | Chronic bronchitis (HP:0004469) | 5.99814264 |
| 9 | Nasal polyposis (HP:0100582) | 5.64944480 |
| 10 | Chronic hepatic failure (HP:0100626) | 5.45970217 |
| 11 | Bronchiectasis (HP:0002110) | 5.39096207 |
| 12 | Occipital encephalocele (HP:0002085) | 4.95669019 |
| 13 | Pancreatic fibrosis (HP:0100732) | 4.67255917 |
| 14 | Abnormality of the nasal mucosa (HP:0000433) | 4.59847762 |
| 15 | True hermaphroditism (HP:0010459) | 4.23200177 |
| 16 | Recurrent sinusitis (HP:0011108) | 4.16479570 |
| 17 | Pancreatic cysts (HP:0001737) | 3.94866792 |
| 18 | Tubular atrophy (HP:0000092) | 3.62017650 |
| 19 | Cystic liver disease (HP:0006706) | 3.57147531 |
| 20 | Nephronophthisis (HP:0000090) | 3.56656395 |
| 21 | Abnormal biliary tract physiology (HP:0012439) | 3.52143150 |
| 22 | Bile duct proliferation (HP:0001408) | 3.52143150 |
| 23 | Bronchitis (HP:0012387) | 3.47433315 |
| 24 | Molar tooth sign on MRI (HP:0002419) | 3.19462408 |
| 25 | Abnormality of midbrain morphology (HP:0002418) | 3.19462408 |
| 26 | Recurrent otitis media (HP:0000403) | 3.09281190 |
| 27 | Infertility (HP:0000789) | 2.99813114 |
| 28 | Abnormality of the renal medulla (HP:0100957) | 2.99028920 |
| 29 | Bell-shaped thorax (HP:0001591) | 2.88837566 |
| 30 | Polydipsia (HP:0001959) | 2.80863211 |
| 31 | Abnormal drinking behavior (HP:0030082) | 2.80863211 |
| 32 | Genetic anticipation (HP:0003743) | 2.74067694 |
| 33 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 2.63736294 |
| 34 | Progressive cerebellar ataxia (HP:0002073) | 2.63210377 |
| 35 | Postaxial foot polydactyly (HP:0001830) | 2.57629827 |
| 36 | Anencephaly (HP:0002323) | 2.51559004 |
| 37 | Tubulointerstitial nephritis (HP:0001970) | 2.46701395 |
| 38 | Congenital hepatic fibrosis (HP:0002612) | 2.45275541 |
| 39 | Sclerocornea (HP:0000647) | 2.44797134 |
| 40 | Medial flaring of the eyebrow (HP:0010747) | 2.40974071 |
| 41 | Chronic sinusitis (HP:0011109) | 2.40680198 |
| 42 | Male pseudohermaphroditism (HP:0000037) | 2.39428423 |
| 43 | Abnormality of the renal cortex (HP:0011035) | 2.37426187 |
| 44 | Gait imbalance (HP:0002141) | 2.33530682 |
| 45 | Congenital primary aphakia (HP:0007707) | 2.33350936 |
| 46 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.06164866 |
| 47 | Genital tract atresia (HP:0001827) | 2.04076942 |
| 48 | Nephrogenic diabetes insipidus (HP:0009806) | 2.03184422 |
| 49 | Abnormality of the hepatic vasculature (HP:0006707) | 2.00571058 |
| 50 | Oculomotor apraxia (HP:0000657) | 2.00484521 |
| 51 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 12.1262674 |
| 52 | Vaginal atresia (HP:0000148) | 1.93520065 |
| 53 | Polyuria (HP:0000103) | 1.91493522 |
| 54 | Male infertility (HP:0003251) | 1.91010662 |
| 55 | Furrowed tongue (HP:0000221) | 1.88522997 |
| 56 | Postaxial hand polydactyly (HP:0001162) | 1.84157771 |
| 57 | Abnormality of macular pigmentation (HP:0008002) | 1.82419237 |
| 58 | Renal dysplasia (HP:0000110) | 1.81662369 |
| 59 | Intellectual disability, moderate (HP:0002342) | 1.80980458 |
| 60 | Preaxial hand polydactyly (HP:0001177) | 1.79955158 |
| 61 | Poor coordination (HP:0002370) | 1.77415129 |
| 62 | Stage 5 chronic kidney disease (HP:0003774) | 1.75456323 |
| 63 | Anophthalmia (HP:0000528) | 1.74126097 |
| 64 | Abnormal rod and cone electroretinograms (HP:0008323) | 1.74032588 |
| 65 | Recurrent bronchitis (HP:0002837) | 1.73921413 |
| 66 | Abnormal urine output (HP:0012590) | 1.71227149 |
| 67 | Tubulointerstitial abnormality (HP:0001969) | 1.68790104 |
| 68 | Type II lissencephaly (HP:0007260) | 1.67433550 |
| 69 | Action tremor (HP:0002345) | 1.66536655 |
| 70 | Postural instability (HP:0002172) | 1.64491596 |
| 71 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 1.64463428 |
| 72 | Portal hypertension (HP:0001409) | 1.64456295 |
| 73 | Optic nerve coloboma (HP:0000588) | 1.58856079 |
| 74 | Median cleft lip (HP:0000161) | 1.58805539 |
| 75 | Atonic seizures (HP:0010819) | 1.57872943 |
| 76 | Abnormality of renal excretion (HP:0011036) | 1.53003765 |
| 77 | Narrow forehead (HP:0000341) | 1.51949631 |
| 78 | Focal motor seizures (HP:0011153) | 1.49350906 |
| 79 | Dysmetric saccades (HP:0000641) | 1.49074897 |
| 80 | Gaze-evoked nystagmus (HP:0000640) | 1.47333410 |
| 81 | Retinitis pigmentosa (HP:0000510) | 1.45978897 |
| 82 | Atelectasis (HP:0100750) | 1.44389441 |
| 83 | Hypoplasia of the pons (HP:0012110) | 1.44066404 |
| 84 | Cone-rod dystrophy (HP:0000548) | 1.42495082 |
| 85 | Highly arched eyebrow (HP:0002553) | 1.42360597 |
| 86 | Retinal dysplasia (HP:0007973) | 1.41881659 |
| 87 | Absence seizures (HP:0002121) | 1.41498224 |
| 88 | Focal seizures (HP:0007359) | 1.39144313 |
| 89 | Hyperglycinemia (HP:0002154) | 1.37709124 |
| 90 | Febrile seizures (HP:0002373) | 1.36922345 |
| 91 | Dysdiadochokinesis (HP:0002075) | 1.36906518 |
| 92 | Cerebellar dysplasia (HP:0007033) | 1.35183503 |
| 93 | Prominent nasal bridge (HP:0000426) | 1.35050413 |
| 94 | Supernumerary spleens (HP:0009799) | 1.33543802 |
| 95 | Chronic otitis media (HP:0000389) | 1.33041131 |
| 96 | Aganglionic megacolon (HP:0002251) | 1.32635121 |
| 97 | Hyperventilation (HP:0002883) | 1.32406615 |
| 98 | Abnormality of the pons (HP:0007361) | 1.28980165 |
| 99 | Facial cleft (HP:0002006) | 1.26811489 |
| 100 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.26186197 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MAPK15 | 6.30511816 |
| 2 | PINK1 | 4.83185226 |
| 3 | FRK | 4.77427702 |
| 4 | PNCK | 4.62851460 |
| 5 | BMPR1B | 2.23669792 |
| 6 | WNK3 | 2.19302802 |
| 7 | PTK2B | 2.02920797 |
| 8 | CASK | 1.83760393 |
| 9 | PRKD3 | 1.83312612 |
| 10 | CDK19 | 1.65688341 |
| 11 | ZAK | 1.65382246 |
| 12 | MARK3 | 1.64990708 |
| 13 | TLK1 | 1.62856825 |
| 14 | STK38L | 1.61345923 |
| 15 | BRD4 | 1.60327222 |
| 16 | MST4 | 1.57650512 |
| 17 | EPHA4 | 1.51862799 |
| 18 | MYLK | 1.51446452 |
| 19 | OXSR1 | 1.49190654 |
| 20 | STK38 | 1.46843248 |
| 21 | MET | 1.44380084 |
| 22 | MAP2K7 | 1.40101894 |
| 23 | NTRK2 | 1.33401119 |
| 24 | MAP3K4 | 1.31544513 |
| 25 | RPS6KA5 | 1.27494233 |
| 26 | LATS1 | 1.26129820 |
| 27 | PLK4 | 1.23955643 |
| 28 | INSRR | 1.23490927 |
| 29 | CAMK1G | 1.16193107 |
| 30 | DYRK3 | 1.14492356 |
| 31 | BCR | 1.09646760 |
| 32 | MAPK13 | 1.05096436 |
| 33 | SGK223 | 1.03600320 |
| 34 | SGK494 | 1.03600320 |
| 35 | TNIK | 1.03010228 |
| 36 | WNK4 | 1.02098048 |
| 37 | GRK1 | 0.98632060 |
| 38 | MAP3K7 | 0.90583826 |
| 39 | ACVR1B | 0.89342670 |
| 40 | MUSK | 0.87823613 |
| 41 | PIK3CA | 0.87314641 |
| 42 | ERBB2 | 0.87268058 |
| 43 | PLK2 | 0.85545617 |
| 44 | ADRBK2 | 0.85119846 |
| 45 | NEK2 | 0.81696353 |
| 46 | CDK12 | 0.81474493 |
| 47 | CAMKK2 | 0.79337409 |
| 48 | CDK3 | 0.73697525 |
| 49 | NTRK3 | 0.69943457 |
| 50 | CSNK1A1L | 0.66500925 |
| 51 | TGFBR1 | 0.64667977 |
| 52 | DDR2 | 0.62891237 |
| 53 | PAK2 | 0.62624242 |
| 54 | CDK5 | 0.59096166 |
| 55 | STK11 | 0.58033180 |
| 56 | WEE1 | 0.57765384 |
| 57 | MARK1 | 0.56945823 |
| 58 | CAMK1 | 0.56535768 |
| 59 | EPHB1 | 0.55564586 |
| 60 | STK39 | 0.55432794 |
| 61 | CAMK4 | 0.55313037 |
| 62 | ROCK1 | 0.54533545 |
| 63 | CSNK1G2 | 0.54213861 |
| 64 | RET | 0.53235930 |
| 65 | STK3 | 0.52716031 |
| 66 | MAPKAPK5 | 0.50333911 |
| 67 | TNK2 | 0.50193656 |
| 68 | PRKG1 | 0.48563440 |
| 69 | SGK1 | 0.48205964 |
| 70 | CAMK2A | 0.46992726 |
| 71 | OBSCN | 0.46959234 |
| 72 | MST1R | 0.45384587 |
| 73 | FGFR2 | 0.44927977 |
| 74 | MAP4K2 | 0.44454994 |
| 75 | EPHA2 | 0.44029073 |
| 76 | PRKCG | 0.43375071 |
| 77 | PRKCQ | 0.43222326 |
| 78 | MAP3K2 | 0.42764265 |
| 79 | TIE1 | 0.42717033 |
| 80 | DYRK1A | 0.42712518 |
| 81 | SGK2 | 0.41001102 |
| 82 | PDPK1 | 0.40974242 |
| 83 | FGR | 0.39931234 |
| 84 | RPS6KA3 | 0.38136567 |
| 85 | ADRBK1 | 0.37874064 |
| 86 | WNK1 | 0.37197530 |
| 87 | MARK2 | 0.36830655 |
| 88 | MAPK10 | 0.35009620 |
| 89 | PDK1 | 0.34814339 |
| 90 | TSSK6 | 0.34283216 |
| 91 | AKT3 | 0.33802367 |
| 92 | CSNK1G1 | 0.33560314 |
| 93 | PRKACB | 0.33027466 |
| 94 | CSNK1A1 | 0.32235249 |
| 95 | PRKACA | 0.32185631 |
| 96 | DYRK2 | 0.31226903 |
| 97 | PKN1 | 0.29818388 |
| 98 | NME1 | 0.29251325 |
| 99 | MKNK2 | 0.28774828 |
| 100 | CCNB1 | 0.28570505 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 2.83019152 |
| 2 | Nicotine addiction_Homo sapiens_hsa05033 | 2.78274814 |
| 3 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 2.70916524 |
| 4 | Olfactory transduction_Homo sapiens_hsa04740 | 2.69728359 |
| 5 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 2.51142023 |
| 6 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 2.36971715 |
| 7 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.22959426 |
| 8 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.21959759 |
| 9 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 2.07675942 |
| 10 | Huntingtons disease_Homo sapiens_hsa05016 | 2.04803268 |
| 11 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 2.03332260 |
| 12 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 2.00935689 |
| 13 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 2.00114597 |
| 14 | Taste transduction_Homo sapiens_hsa04742 | 1.99198101 |
| 15 | ABC transporters_Homo sapiens_hsa02010 | 1.97454788 |
| 16 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.95196919 |
| 17 | Histidine metabolism_Homo sapiens_hsa00340 | 1.89524559 |
| 18 | Alcoholism_Homo sapiens_hsa05034 | 1.74339955 |
| 19 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.69859135 |
| 20 | Retinol metabolism_Homo sapiens_hsa00830 | 1.69031990 |
| 21 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.68428665 |
| 22 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.63235416 |
| 23 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.56378637 |
| 24 | Gap junction_Homo sapiens_hsa04540 | 1.54628352 |
| 25 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.53593507 |
| 26 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.42968331 |
| 27 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.38373935 |
| 28 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.36963273 |
| 29 | Morphine addiction_Homo sapiens_hsa05032 | 1.35018445 |
| 30 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.31910989 |
| 31 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.31119480 |
| 32 | GABAergic synapse_Homo sapiens_hsa04727 | 1.31058771 |
| 33 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.28939538 |
| 34 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.23553145 |
| 35 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.20938862 |
| 36 | Salivary secretion_Homo sapiens_hsa04970 | 1.20804171 |
| 37 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.19259773 |
| 38 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.18774331 |
| 39 | Circadian entrainment_Homo sapiens_hsa04713 | 1.16943767 |
| 40 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.15864430 |
| 41 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.15678128 |
| 42 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 1.15412735 |
| 43 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.11529039 |
| 44 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.09551203 |
| 45 | Peroxisome_Homo sapiens_hsa04146 | 1.07093438 |
| 46 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.04522975 |
| 47 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.98153461 |
| 48 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.96577602 |
| 49 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.95513215 |
| 50 | Phototransduction_Homo sapiens_hsa04744 | 0.93015531 |
| 51 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.89890465 |
| 52 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.89226695 |
| 53 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.88772198 |
| 54 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.85336369 |
| 55 | Bile secretion_Homo sapiens_hsa04976 | 0.82754856 |
| 56 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.81882987 |
| 57 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.81504718 |
| 58 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.80398369 |
| 59 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.78150215 |
| 60 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.78087183 |
| 61 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.76503049 |
| 62 | Renin secretion_Homo sapiens_hsa04924 | 0.73440841 |
| 63 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.70277062 |
| 64 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.69859885 |
| 65 | Circadian rhythm_Homo sapiens_hsa04710 | 0.69225072 |
| 66 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.66372736 |
| 67 | Purine metabolism_Homo sapiens_hsa00230 | 0.65814814 |
| 68 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.63608532 |
| 69 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.62941546 |
| 70 | Axon guidance_Homo sapiens_hsa04360 | 0.58934810 |
| 71 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.56305378 |
| 72 | Basal transcription factors_Homo sapiens_hsa03022 | 0.56104448 |
| 73 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.54794267 |
| 74 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.53157758 |
| 75 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.52518024 |
| 76 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.51898599 |
| 77 | Insulin secretion_Homo sapiens_hsa04911 | 0.51767697 |
| 78 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.51206393 |
| 79 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.50114155 |
| 80 | Cocaine addiction_Homo sapiens_hsa05030 | 0.48872501 |
| 81 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.48181148 |
| 82 | Metabolic pathways_Homo sapiens_hsa01100 | 0.46488691 |
| 83 | Tight junction_Homo sapiens_hsa04530 | 0.43942628 |
| 84 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.43399674 |
| 85 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.42086241 |
| 86 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.41225511 |
| 87 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.40385428 |
| 88 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.40284151 |
| 89 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.40104164 |
| 90 | Phagosome_Homo sapiens_hsa04145 | 0.38840010 |
| 91 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.37852827 |
| 92 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.37073782 |
| 93 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.36952085 |
| 94 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.36247508 |
| 95 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.34738732 |
| 96 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.34242969 |
| 97 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.33650515 |
| 98 | Lysine degradation_Homo sapiens_hsa00310 | 0.32569008 |
| 99 | Sulfur relay system_Homo sapiens_hsa04122 | 0.31716161 |
| 100 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.31459102 |

