

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | axonemal dynein complex assembly (GO:0070286) | 5.91527946 |
| 2 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.62821241 |
| 3 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 5.57909472 |
| 4 | epithelial cilium movement (GO:0003351) | 4.79375068 |
| 5 | cilium movement (GO:0003341) | 4.69109808 |
| 6 | centriole replication (GO:0007099) | 4.36333312 |
| 7 | sperm motility (GO:0030317) | 4.21348699 |
| 8 | regulation of cilium movement (GO:0003352) | 4.08834458 |
| 9 | establishment of protein localization to Golgi (GO:0072600) | 3.99971503 |
| 10 | motile cilium assembly (GO:0044458) | 3.99230143 |
| 11 | response to pheromone (GO:0019236) | 3.98811740 |
| 12 | acrosome reaction (GO:0007340) | 3.95614201 |
| 13 | microtubule depolymerization (GO:0007019) | 3.89106653 |
| 14 | protein targeting to Golgi (GO:0000042) | 3.74526931 |
| 15 | spermatid nucleus differentiation (GO:0007289) | 3.70564210 |
| 16 | microtubule polymerization or depolymerization (GO:0031109) | 3.57845400 |
| 17 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 3.57349037 |
| 18 | single strand break repair (GO:0000012) | 3.51902268 |
| 19 | centriole assembly (GO:0098534) | 3.50599396 |
| 20 | axoneme assembly (GO:0035082) | 3.50456953 |
| 21 | chromosome condensation (GO:0030261) | 3.44410075 |
| 22 | meiotic chromosome segregation (GO:0045132) | 3.42587115 |
| 23 | spermatid development (GO:0007286) | 3.36641438 |
| 24 | DNA packaging (GO:0006323) | 3.36502318 |
| 25 | microtubule severing (GO:0051013) | 3.33676036 |
| 26 | protein localization to Golgi apparatus (GO:0034067) | 3.31891010 |
| 27 | fusion of sperm to egg plasma membrane (GO:0007342) | 3.22857268 |
| 28 | regulation of centriole replication (GO:0046599) | 3.19963041 |
| 29 | cilium organization (GO:0044782) | 3.16304681 |
| 30 | cilium assembly (GO:0042384) | 3.15804218 |
| 31 | nonmotile primary cilium assembly (GO:0035058) | 3.12418078 |
| 32 | protein polyglutamylation (GO:0018095) | 3.09023545 |
| 33 | synapsis (GO:0007129) | 3.07704073 |
| 34 | photoreceptor cell maintenance (GO:0045494) | 3.05833267 |
| 35 | interkinetic nuclear migration (GO:0022027) | 3.05696846 |
| 36 | presynaptic membrane assembly (GO:0097105) | 3.01086004 |
| 37 | ventricular system development (GO:0021591) | 2.94649448 |
| 38 | regulation of meiosis I (GO:0060631) | 2.85485250 |
| 39 | intraciliary transport (GO:0042073) | 2.84039425 |
| 40 | peptidyl-threonine dephosphorylation (GO:0035970) | 2.82016668 |
| 41 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 2.80839720 |
| 42 | sperm-egg recognition (GO:0035036) | 2.80260268 |
| 43 | head development (GO:0060322) | 2.79969484 |
| 44 | one-carbon compound transport (GO:0019755) | 2.79327313 |
| 45 | histone H3-K9 demethylation (GO:0033169) | 2.78047969 |
| 46 | presynaptic membrane organization (GO:0097090) | 2.74973367 |
| 47 | phosphatidylethanolamine metabolic process (GO:0046337) | 2.72549356 |
| 48 | somite development (GO:0061053) | 2.71547723 |
| 49 | coenzyme catabolic process (GO:0009109) | 2.71546077 |
| 50 | inner ear receptor stereocilium organization (GO:0060122) | 2.70938868 |
| 51 | microtubule bundle formation (GO:0001578) | 2.70575184 |
| 52 | sperm capacitation (GO:0048240) | 2.68380898 |
| 53 | appendage development (GO:0048736) | 2.66151300 |
| 54 | limb development (GO:0060173) | 2.66151300 |
| 55 | regulation of microtubule-based movement (GO:0060632) | 2.65598164 |
| 56 | histone H3-K9 methylation (GO:0051567) | 2.60888275 |
| 57 | regulation of centrosome duplication (GO:0010824) | 2.60088312 |
| 58 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.58983918 |
| 59 | left/right axis specification (GO:0070986) | 2.58690205 |
| 60 | acrosome assembly (GO:0001675) | 2.58429004 |
| 61 | limb bud formation (GO:0060174) | 2.58007004 |
| 62 | seminiferous tubule development (GO:0072520) | 2.57844282 |
| 63 | male gamete generation (GO:0048232) | 2.57757081 |
| 64 | positive regulation of dendritic spine morphogenesis (GO:0061003) | 2.56885961 |
| 65 | spermatogenesis (GO:0007283) | 2.56668861 |
| 66 | DNA methylation involved in gamete generation (GO:0043046) | 2.54890531 |
| 67 | male meiosis (GO:0007140) | 2.54530080 |
| 68 | cilium morphogenesis (GO:0060271) | 2.52406471 |
| 69 | chromosome organization involved in meiosis (GO:0070192) | 2.50003489 |
| 70 | reciprocal meiotic recombination (GO:0007131) | 2.47140115 |
| 71 | reciprocal DNA recombination (GO:0035825) | 2.47140115 |
| 72 | embryonic foregut morphogenesis (GO:0048617) | 2.46776086 |
| 73 | plasma membrane fusion (GO:0045026) | 2.46666479 |
| 74 | cellular ketone body metabolic process (GO:0046950) | 2.46316595 |
| 75 | auditory receptor cell stereocilium organization (GO:0060088) | 2.44423416 |
| 76 | binding of sperm to zona pellucida (GO:0007339) | 2.43919061 |
| 77 | monoubiquitinated protein deubiquitination (GO:0035520) | 2.43602088 |
| 78 | gamete generation (GO:0007276) | 2.41870310 |
| 79 | positive regulation of Rab GTPase activity (GO:0032851) | 2.39070932 |
| 80 | regulation of Rab GTPase activity (GO:0032313) | 2.39070932 |
| 81 | DNA double-strand break processing (GO:0000729) | 2.39039940 |
| 82 | resolution of meiotic recombination intermediates (GO:0000712) | 2.38964615 |
| 83 | calcium ion-dependent exocytosis (GO:0017156) | 2.35589338 |
| 84 | Golgi to endosome transport (GO:0006895) | 2.35450708 |
| 85 | snRNA transcription (GO:0009301) | 2.34350475 |
| 86 | regulation of telomere maintenance (GO:0032204) | 2.33674978 |
| 87 | nucleosome disassembly (GO:0006337) | 2.29120434 |
| 88 | protein-DNA complex disassembly (GO:0032986) | 2.29120434 |
| 89 | microtubule-based movement (GO:0007018) | 2.28614523 |
| 90 | microtubule organizing center organization (GO:0031023) | 2.28361949 |
| 91 | regulation of collateral sprouting (GO:0048670) | 2.28356414 |
| 92 | apical protein localization (GO:0045176) | 2.27132176 |
| 93 | regulation of non-canonical Wnt signaling pathway (GO:2000050) | 2.26640984 |
| 94 | male meiosis I (GO:0007141) | 2.25215876 |
| 95 | protein localization to cilium (GO:0061512) | 2.25170984 |
| 96 | sister chromatid cohesion (GO:0007062) | 2.23844587 |
| 97 | multicellular organism reproduction (GO:0032504) | 2.23631917 |
| 98 | cerebral cortex radially oriented cell migration (GO:0021799) | 2.23011403 |
| 99 | regulation of centrosome cycle (GO:0046605) | 2.22651722 |
| 100 | spinal cord motor neuron differentiation (GO:0021522) | 2.19514340 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 3.81751142 |
| 2 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.93395159 |
| 3 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 2.79009511 |
| 4 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.70597824 |
| 5 | FUS_26573619_Chip-Seq_HEK293_Human | 2.64609146 |
| 6 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.51314548 |
| 7 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.48745213 |
| 8 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.35785679 |
| 9 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 2.33006941 |
| 10 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.32089956 |
| 11 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.30220812 |
| 12 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 2.28109639 |
| 13 | VDR_22108803_ChIP-Seq_LS180_Human | 2.27478381 |
| 14 | EWS_26573619_Chip-Seq_HEK293_Human | 2.21884666 |
| 15 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.19093274 |
| 16 | IGF1R_20145208_ChIP-Seq_DFB_Human | 2.12612095 |
| 17 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.10721442 |
| 18 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 2.10186697 |
| 19 | P300_19829295_ChIP-Seq_ESCs_Human | 1.93810629 |
| 20 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.92561619 |
| 21 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.92561619 |
| 22 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.91053755 |
| 23 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.87137532 |
| 24 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.87137532 |
| 25 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.84291058 |
| 26 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.80023829 |
| 27 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.78757483 |
| 28 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.77834792 |
| 29 | STAT3_23295773_ChIP-Seq_U87_Human | 1.72983024 |
| 30 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.71813197 |
| 31 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.64994629 |
| 32 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.61603292 |
| 33 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.60579825 |
| 34 | TCF4_23295773_ChIP-Seq_U87_Human | 1.58414121 |
| 35 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.56348225 |
| 36 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.56072867 |
| 37 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.55241255 |
| 38 | * UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.54838786 |
| 39 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.54086172 |
| 40 | AR_25329375_ChIP-Seq_VCAP_Human | 1.52061037 |
| 41 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.50541784 |
| 42 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.48616560 |
| 43 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.48241200 |
| 44 | * RUNX2_22187159_ChIP-Seq_PCA_Human | 1.47895014 |
| 45 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.45677795 |
| 46 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.42131244 |
| 47 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.41850539 |
| 48 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.39635459 |
| 49 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.38558163 |
| 50 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.38533358 |
| 51 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.38439585 |
| 52 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.37000032 |
| 53 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.30135877 |
| 54 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.29702868 |
| 55 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.29271525 |
| 56 | TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 1.25575005 |
| 57 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.22414132 |
| 58 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.21812595 |
| 59 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.20155239 |
| 60 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.19632079 |
| 61 | * WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.18108610 |
| 62 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.17966932 |
| 63 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.17444567 |
| 64 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.16647405 |
| 65 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.16308528 |
| 66 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.16139639 |
| 67 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.16067979 |
| 68 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.15675905 |
| 69 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.14960536 |
| 70 | TBL1_22424771_ChIP-Seq_293T_Human | 1.14373276 |
| 71 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.14021006 |
| 72 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.13628308 |
| 73 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.11448987 |
| 74 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.11378188 |
| 75 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.10525729 |
| 76 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.09881193 |
| 77 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.08847726 |
| 78 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.05926622 |
| 79 | NFYB_21822215_ChIP-Seq_K562_Human | 1.05862195 |
| 80 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.04101205 |
| 81 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.03744123 |
| 82 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.02977592 |
| 83 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.00615497 |
| 84 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 1.00238517 |
| 85 | SOX9_26525672_Chip-Seq_HEART_Mouse | 1.00189085 |
| 86 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 0.99600422 |
| 87 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.99248899 |
| 88 | AR_19668381_ChIP-Seq_PC3_Human | 0.98753180 |
| 89 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 0.96288170 |
| 90 | KDM2B_26808549_Chip-Seq_REH_Human | 0.96286356 |
| 91 | STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse | 0.96171713 |
| 92 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 0.96072650 |
| 93 | RXR_22108803_ChIP-Seq_LS180_Human | 0.95449304 |
| 94 | NFYA_21822215_ChIP-Seq_K562_Human | 0.94199898 |
| 95 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 0.94014069 |
| 96 | FOXM1_26456572_ChIP-Seq_MCF-7_Human | 0.93464833 |
| 97 | FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human | 0.93425839 |
| 98 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 0.93243947 |
| 99 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.92766573 |
| 100 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.92766573 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 3.05610766 |
| 2 | MP0000566_synostosis | 2.74096196 |
| 3 | MP0006292_abnormal_olfactory_placode | 2.64916879 |
| 4 | MP0005377_hearing/vestibular/ear_phenot | 2.16417827 |
| 5 | MP0003878_abnormal_ear_physiology | 2.16417827 |
| 6 | MP0008877_abnormal_DNA_methylation | 2.12689697 |
| 7 | MP0003880_abnormal_central_pattern | 2.10261626 |
| 8 | MP0003698_abnormal_male_reproductive | 2.03462156 |
| 9 | MP0003122_maternal_imprinting | 1.94242987 |
| 10 | MP0002234_abnormal_pharynx_morphology | 1.84058803 |
| 11 | MP0001929_abnormal_gametogenesis | 1.82435967 |
| 12 | MP0003937_abnormal_limbs/digits/tail_de | 1.81934276 |
| 13 | MP0002249_abnormal_larynx_morphology | 1.81354683 |
| 14 | MP0004043_abnormal_pH_regulation | 1.77253999 |
| 15 | MP0000049_abnormal_middle_ear | 1.66852819 |
| 16 | MP0000383_abnormal_hair_follicle | 1.65280984 |
| 17 | MP0003890_abnormal_embryonic-extraembry | 1.62359948 |
| 18 | MP0001485_abnormal_pinna_reflex | 1.61392995 |
| 19 | MP0002102_abnormal_ear_morphology | 1.58973406 |
| 20 | MP0000778_abnormal_nervous_system | 1.56997888 |
| 21 | MP0000631_abnormal_neuroendocrine_gland | 1.55280749 |
| 22 | MP0003119_abnormal_digestive_system | 1.52400144 |
| 23 | MP0008995_early_reproductive_senescence | 1.48243548 |
| 24 | MP0001984_abnormal_olfaction | 1.47173529 |
| 25 | MP0004885_abnormal_endolymph | 1.46848608 |
| 26 | MP0004133_heterotaxia | 1.46803436 |
| 27 | MP0005499_abnormal_olfactory_system | 1.46739621 |
| 28 | MP0005394_taste/olfaction_phenotype | 1.46739621 |
| 29 | MP0008789_abnormal_olfactory_epithelium | 1.45864588 |
| 30 | MP0003121_genomic_imprinting | 1.42451090 |
| 31 | MP0005551_abnormal_eye_electrophysiolog | 1.39757794 |
| 32 | MP0004859_abnormal_synaptic_plasticity | 1.39546229 |
| 33 | MP0002210_abnormal_sex_determination | 1.36842243 |
| 34 | MP0002233_abnormal_nose_morphology | 1.35124111 |
| 35 | MP0001293_anophthalmia | 1.32031497 |
| 36 | MP0005646_abnormal_pituitary_gland | 1.30729948 |
| 37 | MP0005423_abnormal_somatic_nervous | 1.29714117 |
| 38 | MP0001486_abnormal_startle_reflex | 1.29347749 |
| 39 | MP0002653_abnormal_ependyma_morphology | 1.26408139 |
| 40 | MP0002735_abnormal_chemical_nociception | 1.26258739 |
| 41 | MP0003195_calcinosis | 1.25798714 |
| 42 | MP0004742_abnormal_vestibular_system | 1.24648827 |
| 43 | MP0000955_abnormal_spinal_cord | 1.19894851 |
| 44 | MP0003718_maternal_effect | 1.19748234 |
| 45 | MP0002938_white_spotting | 1.19032916 |
| 46 | MP0000427_abnormal_hair_cycle | 1.18929901 |
| 47 | MP0010678_abnormal_skin_adnexa | 1.18241340 |
| 48 | MP0003861_abnormal_nervous_system | 1.17174711 |
| 49 | MP0001145_abnormal_male_reproductive | 1.16758684 |
| 50 | MP0004147_increased_porphyrin_level | 1.16018465 |
| 51 | MP0003755_abnormal_palate_morphology | 1.15400586 |
| 52 | MP0002282_abnormal_trachea_morphology | 1.14699988 |
| 53 | MP0000026_abnormal_inner_ear | 1.14534389 |
| 54 | MP0001286_abnormal_eye_development | 1.13839022 |
| 55 | MP0000653_abnormal_sex_gland | 1.12913186 |
| 56 | MP0002184_abnormal_innervation | 1.12549139 |
| 57 | MP0003787_abnormal_imprinting | 1.11926224 |
| 58 | MP0005253_abnormal_eye_physiology | 1.11537131 |
| 59 | MP0006276_abnormal_autonomic_nervous | 1.11304976 |
| 60 | MP0000678_abnormal_parathyroid_gland | 1.11147746 |
| 61 | MP0002557_abnormal_social/conspecific_i | 1.10221012 |
| 62 | MP0002161_abnormal_fertility/fecundity | 1.09418474 |
| 63 | MP0003938_abnormal_ear_development | 1.08109020 |
| 64 | MP0001968_abnormal_touch/_nociception | 1.06568667 |
| 65 | MP0008058_abnormal_DNA_repair | 1.05824467 |
| 66 | MP0002822_catalepsy | 1.04458774 |
| 67 | MP0001529_abnormal_vocalization | 1.03366299 |
| 68 | MP0002928_abnormal_bile_duct | 0.99019040 |
| 69 | MP0009046_muscle_twitch | 0.96800661 |
| 70 | MP0003942_abnormal_urinary_system | 0.96712903 |
| 71 | MP0003567_abnormal_fetal_cardiomyocyte | 0.95991190 |
| 72 | MP0001963_abnormal_hearing_physiology | 0.95814854 |
| 73 | MP0003635_abnormal_synaptic_transmissio | 0.94999499 |
| 74 | MP0002752_abnormal_somatic_nervous | 0.94523803 |
| 75 | MP0001299_abnormal_eye_distance/ | 0.93367823 |
| 76 | MP0005367_renal/urinary_system_phenotyp | 0.92677894 |
| 77 | MP0000516_abnormal_urinary_system | 0.92677894 |
| 78 | MP0002084_abnormal_developmental_patter | 0.92012933 |
| 79 | MP0009780_abnormal_chondrocyte_physiolo | 0.91791482 |
| 80 | MP0001188_hyperpigmentation | 0.90782318 |
| 81 | MP0002882_abnormal_neuron_morphology | 0.89975097 |
| 82 | MP0006072_abnormal_retinal_apoptosis | 0.89610164 |
| 83 | MP0002009_preneoplasia | 0.88885985 |
| 84 | MP0002736_abnormal_nociception_after | 0.88706478 |
| 85 | MP0003136_yellow_coat_color | 0.88167271 |
| 86 | MP0003935_abnormal_craniofacial_develop | 0.88153210 |
| 87 | MP0002697_abnormal_eye_size | 0.87580575 |
| 88 | MP0002734_abnormal_mechanical_nocicepti | 0.87146890 |
| 89 | MP0000579_abnormal_nail_morphology | 0.86834092 |
| 90 | MP0002272_abnormal_nervous_system | 0.86756918 |
| 91 | MP0003283_abnormal_digestive_organ | 0.85606329 |
| 92 | MP0002152_abnormal_brain_morphology | 0.84793324 |
| 93 | MP0003115_abnormal_respiratory_system | 0.84594532 |
| 94 | MP0009745_abnormal_behavioral_response | 0.83981588 |
| 95 | MP0002063_abnormal_learning/memory/cond | 0.83471176 |
| 96 | MP0005248_abnormal_Harderian_gland | 0.83128802 |
| 97 | MP0002572_abnormal_emotion/affect_behav | 0.82880719 |
| 98 | MP0002067_abnormal_sensory_capabilities | 0.82465895 |
| 99 | MP0005391_vision/eye_phenotype | 0.82019812 |
| 100 | MP0002116_abnormal_craniofacial_bone | 0.81956087 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Absent/shortened dynein arms (HP:0200106) | 5.60177680 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.60177680 |
| 3 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.57669964 |
| 4 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.57669964 |
| 5 | Abnormal ciliary motility (HP:0012262) | 4.53523717 |
| 6 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.42388510 |
| 7 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.34231142 |
| 8 | Pancreatic fibrosis (HP:0100732) | 3.45253970 |
| 9 | True hermaphroditism (HP:0010459) | 3.36444603 |
| 10 | Nephronophthisis (HP:0000090) | 3.23700720 |
| 11 | Pancreatic cysts (HP:0001737) | 3.19516736 |
| 12 | Chronic hepatic failure (HP:0100626) | 3.04525072 |
| 13 | Rhinitis (HP:0012384) | 3.00793234 |
| 14 | Chronic bronchitis (HP:0004469) | 2.89804868 |
| 15 | Abnormality of the renal medulla (HP:0100957) | 2.87180509 |
| 16 | Cystic liver disease (HP:0006706) | 2.78403235 |
| 17 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.77935052 |
| 18 | Tubulointerstitial nephritis (HP:0001970) | 2.74965133 |
| 19 | Postaxial foot polydactyly (HP:0001830) | 2.63440575 |
| 20 | Bile duct proliferation (HP:0001408) | 2.58652553 |
| 21 | Abnormal biliary tract physiology (HP:0012439) | 2.58652553 |
| 22 | Molar tooth sign on MRI (HP:0002419) | 2.57884303 |
| 23 | Abnormality of midbrain morphology (HP:0002418) | 2.57884303 |
| 24 | Abnormality of the aortic arch (HP:0012303) | 2.57684982 |
| 25 | Supernumerary spleens (HP:0009799) | 2.34979914 |
| 26 | Bronchiectasis (HP:0002110) | 2.32560636 |
| 27 | Medial flaring of the eyebrow (HP:0010747) | 2.27132487 |
| 28 | Attenuation of retinal blood vessels (HP:0007843) | 2.27053565 |
| 29 | Occipital encephalocele (HP:0002085) | 2.25110245 |
| 30 | Hypoplastic ischia (HP:0003175) | 2.23887024 |
| 31 | Gait imbalance (HP:0002141) | 2.22245259 |
| 32 | Abnormality of the ischium (HP:0003174) | 2.18575727 |
| 33 | Genital tract atresia (HP:0001827) | 2.17486175 |
| 34 | Tubular atrophy (HP:0000092) | 2.15701923 |
| 35 | Vaginal atresia (HP:0000148) | 2.14194171 |
| 36 | Poor coordination (HP:0002370) | 2.13660166 |
| 37 | Hyperkalemia (HP:0002153) | 2.13138626 |
| 38 | Congenital primary aphakia (HP:0007707) | 2.12278657 |
| 39 | Intestinal atresia (HP:0011100) | 2.12134296 |
| 40 | Abnormality of the labia minora (HP:0012880) | 2.11255208 |
| 41 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.10235623 |
| 42 | Male infertility (HP:0003251) | 2.07705707 |
| 43 | Anencephaly (HP:0002323) | 2.07302954 |
| 44 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.06152929 |
| 45 | Progressive cerebellar ataxia (HP:0002073) | 2.06033481 |
| 46 | Infertility (HP:0000789) | 2.05685914 |
| 47 | Abnormality of macular pigmentation (HP:0008002) | 1.95477978 |
| 48 | Postaxial hand polydactyly (HP:0001162) | 1.95435115 |
| 49 | Abnormality of the renal cortex (HP:0011035) | 1.95120628 |
| 50 | Male pseudohermaphroditism (HP:0000037) | 1.90245222 |
| 51 | Nephrogenic diabetes insipidus (HP:0009806) | 1.87815496 |
| 52 | Genetic anticipation (HP:0003743) | 1.87594967 |
| 53 | Congenital hepatic fibrosis (HP:0002612) | 1.87529215 |
| 54 | Renal dysplasia (HP:0000110) | 1.86493983 |
| 55 | Volvulus (HP:0002580) | 1.85597057 |
| 56 | Sloping forehead (HP:0000340) | 1.85170933 |
| 57 | Sclerocornea (HP:0000647) | 1.83948148 |
| 58 | Median cleft lip (HP:0000161) | 1.82457933 |
| 59 | Preaxial hand polydactyly (HP:0001177) | 1.82294296 |
| 60 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.80846168 |
| 61 | Aqueductal stenosis (HP:0002410) | 1.78875549 |
| 62 | Abnormal drinking behavior (HP:0030082) | 1.78491634 |
| 63 | Polydipsia (HP:0001959) | 1.78491634 |
| 64 | Decreased central vision (HP:0007663) | 1.75737050 |
| 65 | Drooling (HP:0002307) | 1.74301512 |
| 66 | Tubulointerstitial abnormality (HP:0001969) | 1.72036531 |
| 67 | Broad-based gait (HP:0002136) | 1.71143684 |
| 68 | Midline defect of the nose (HP:0004122) | 1.70791705 |
| 69 | Bell-shaped thorax (HP:0001591) | 1.70403492 |
| 70 | Preaxial foot polydactyly (HP:0001841) | 1.69738827 |
| 71 | Astigmatism (HP:0000483) | 1.68460030 |
| 72 | Multicystic kidney dysplasia (HP:0000003) | 1.67518076 |
| 73 | Gaze-evoked nystagmus (HP:0000640) | 1.66145592 |
| 74 | Hepatoblastoma (HP:0002884) | 1.65228279 |
| 75 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 1.65030505 |
| 76 | Abnormality of the pubic bones (HP:0003172) | 1.64750843 |
| 77 | Abnormal biliary tract morphology (HP:0012440) | 1.63269616 |
| 78 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.63220493 |
| 79 | Abnormality of the parathyroid morphology (HP:0011766) | 1.62603010 |
| 80 | Abnormality of the nasal septum (HP:0000419) | 1.62278251 |
| 81 | Meckel diverticulum (HP:0002245) | 1.61642428 |
| 82 | Abnormality of the ileum (HP:0001549) | 1.61396680 |
| 83 | Neoplasm of the oral cavity (HP:0100649) | 1.61251370 |
| 84 | Exotropia (HP:0000577) | 1.58727015 |
| 85 | Stage 5 chronic kidney disease (HP:0003774) | 1.57114514 |
| 86 | Dandy-Walker malformation (HP:0001305) | 1.56536892 |
| 87 | Aplasia/Hypoplasia of the sternum (HP:0006714) | 1.56374564 |
| 88 | Cerebellar dysplasia (HP:0007033) | 1.56211755 |
| 89 | Gonadal dysgenesis (HP:0000133) | 1.55813485 |
| 90 | Cutaneous finger syndactyly (HP:0010554) | 1.55617517 |
| 91 | Optic nerve hypoplasia (HP:0000609) | 1.55204207 |
| 92 | Biliary tract neoplasm (HP:0100574) | 1.53898219 |
| 93 | Abnormal lung lobation (HP:0002101) | 1.52459356 |
| 94 | Protruding tongue (HP:0010808) | 1.52352655 |
| 95 | Renal hypoplasia (HP:0000089) | 1.51956456 |
| 96 | Anophthalmia (HP:0000528) | 1.51301232 |
| 97 | Febrile seizures (HP:0002373) | 1.51006476 |
| 98 | Potter facies (HP:0002009) | 1.50431452 |
| 99 | Facial shape deformation (HP:0011334) | 1.50431452 |
| 100 | Broad foot (HP:0001769) | 1.49742244 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FRK | 4.48468114 |
| 2 | PLK4 | 3.10342879 |
| 3 | PNCK | 2.58287310 |
| 4 | MAP3K4 | 2.44821069 |
| 5 | BCR | 2.40958841 |
| 6 | BMPR1B | 2.39219126 |
| 7 | CASK | 2.32669752 |
| 8 | ACVR1B | 2.28418772 |
| 9 | FGFR2 | 2.21145100 |
| 10 | CAMK1G | 1.97120807 |
| 11 | NEK2 | 1.94589169 |
| 12 | BRD4 | 1.91624480 |
| 13 | MKNK2 | 1.88689950 |
| 14 | LATS1 | 1.79207832 |
| 15 | INSRR | 1.76099344 |
| 16 | WNK4 | 1.73159524 |
| 17 | TNIK | 1.70874921 |
| 18 | MAP4K2 | 1.68684388 |
| 19 | EPHA4 | 1.66524276 |
| 20 | WNK3 | 1.63784097 |
| 21 | MARK1 | 1.60843906 |
| 22 | MAPK15 | 1.58997065 |
| 23 | MAPK13 | 1.48601739 |
| 24 | PLK2 | 1.38068449 |
| 25 | STK38L | 1.34376330 |
| 26 | MAP3K9 | 1.31446055 |
| 27 | CAMK1D | 1.30356277 |
| 28 | MKNK1 | 1.26597924 |
| 29 | MAP2K7 | 1.25859727 |
| 30 | NTRK3 | 1.24422969 |
| 31 | NEK1 | 1.23911196 |
| 32 | NUAK1 | 1.19724442 |
| 33 | STK39 | 1.18160291 |
| 34 | TTK | 1.14234477 |
| 35 | DYRK2 | 1.11076311 |
| 36 | WNK1 | 1.04789785 |
| 37 | WEE1 | 1.04703477 |
| 38 | TRIM28 | 0.98339536 |
| 39 | AKT3 | 0.97849643 |
| 40 | NME1 | 0.96008806 |
| 41 | PINK1 | 0.95561045 |
| 42 | BRSK2 | 0.93613148 |
| 43 | TAF1 | 0.93017194 |
| 44 | DYRK3 | 0.89307820 |
| 45 | OXSR1 | 0.87530377 |
| 46 | SGK2 | 0.85949970 |
| 47 | PKN2 | 0.85007758 |
| 48 | PLK1 | 0.84521106 |
| 49 | ERBB3 | 0.82801724 |
| 50 | NTRK2 | 0.81149430 |
| 51 | FGFR1 | 0.80109086 |
| 52 | SGK223 | 0.79301602 |
| 53 | SGK494 | 0.79301602 |
| 54 | MAP3K7 | 0.79008825 |
| 55 | PRKD3 | 0.77990806 |
| 56 | CDK3 | 0.75580095 |
| 57 | CDK19 | 0.75423085 |
| 58 | GRK1 | 0.72944185 |
| 59 | PASK | 0.68624392 |
| 60 | UHMK1 | 0.66256160 |
| 61 | SGK1 | 0.65422414 |
| 62 | PRKCE | 0.64581467 |
| 63 | SIK2 | 0.64147636 |
| 64 | ATM | 0.63594507 |
| 65 | CDC7 | 0.62899426 |
| 66 | MAP2K4 | 0.62113543 |
| 67 | PRKCG | 0.61895890 |
| 68 | CHEK1 | 0.60498668 |
| 69 | STK38 | 0.60129684 |
| 70 | PRKAA1 | 0.58736433 |
| 71 | STK3 | 0.58053274 |
| 72 | FLT3 | 0.56974111 |
| 73 | STK11 | 0.56249505 |
| 74 | CDK1 | 0.56219337 |
| 75 | DDR2 | 0.56215055 |
| 76 | DYRK1A | 0.55077365 |
| 77 | CSNK1E | 0.54406275 |
| 78 | ATR | 0.53079280 |
| 79 | PLK3 | 0.52857389 |
| 80 | MAP3K6 | 0.52701403 |
| 81 | ERBB2 | 0.50916236 |
| 82 | PRKAA2 | 0.49717842 |
| 83 | TGFBR1 | 0.49552834 |
| 84 | CDK12 | 0.48897779 |
| 85 | FGFR3 | 0.48852212 |
| 86 | ADRBK2 | 0.48634615 |
| 87 | SRPK1 | 0.47510445 |
| 88 | GSK3B | 0.46909264 |
| 89 | CHEK2 | 0.45863818 |
| 90 | MET | 0.44153977 |
| 91 | PRKG1 | 0.43725297 |
| 92 | FER | 0.41754169 |
| 93 | CDK2 | 0.41597747 |
| 94 | CSNK1G2 | 0.41460434 |
| 95 | TYRO3 | 0.40696871 |
| 96 | MINK1 | 0.38338376 |
| 97 | PHKG2 | 0.37739878 |
| 98 | PHKG1 | 0.37739878 |
| 99 | PRKDC | 0.36550886 |
| 100 | MAPK14 | 0.35533251 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.52015262 |
| 2 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.34996297 |
| 3 | Nicotine addiction_Homo sapiens_hsa05033 | 2.30307787 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.19720285 |
| 5 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.95609464 |
| 6 | Olfactory transduction_Homo sapiens_hsa04740 | 1.81842256 |
| 7 | Taste transduction_Homo sapiens_hsa04742 | 1.78546918 |
| 8 | Phototransduction_Homo sapiens_hsa04744 | 1.73913714 |
| 9 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.73783102 |
| 10 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.70714340 |
| 11 | Basal transcription factors_Homo sapiens_hsa03022 | 1.67802071 |
| 12 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.65626197 |
| 13 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.64905063 |
| 14 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.60609995 |
| 15 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.53806006 |
| 16 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.50396049 |
| 17 | ABC transporters_Homo sapiens_hsa02010 | 1.46414536 |
| 18 | Lysine degradation_Homo sapiens_hsa00310 | 1.44096342 |
| 19 | Homologous recombination_Homo sapiens_hsa03440 | 1.43333048 |
| 20 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.38241428 |
| 21 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.35020284 |
| 22 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.33968348 |
| 23 | Insulin secretion_Homo sapiens_hsa04911 | 1.33288723 |
| 24 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.32609530 |
| 25 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.32066831 |
| 26 | RNA transport_Homo sapiens_hsa03013 | 1.31691668 |
| 27 | Basal cell carcinoma_Homo sapiens_hsa05217 | 1.30910582 |
| 28 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.30766750 |
| 29 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.29713707 |
| 30 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.26334280 |
| 31 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.21013470 |
| 32 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.19829377 |
| 33 | Circadian entrainment_Homo sapiens_hsa04713 | 1.13759125 |
| 34 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.12636177 |
| 35 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.12485749 |
| 36 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.12285215 |
| 37 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.06737743 |
| 38 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.04359558 |
| 39 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.03426988 |
| 40 | Morphine addiction_Homo sapiens_hsa05032 | 1.00574996 |
| 41 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.99200626 |
| 42 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.99140042 |
| 43 | RNA degradation_Homo sapiens_hsa03018 | 0.97350135 |
| 44 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.96048640 |
| 45 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.95756446 |
| 46 | GABAergic synapse_Homo sapiens_hsa04727 | 0.95234968 |
| 47 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.93594948 |
| 48 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.93198071 |
| 49 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.92491801 |
| 50 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.91694802 |
| 51 | Retinol metabolism_Homo sapiens_hsa00830 | 0.87895732 |
| 52 | Salivary secretion_Homo sapiens_hsa04970 | 0.87890540 |
| 53 | Axon guidance_Homo sapiens_hsa04360 | 0.85459720 |
| 54 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.85333174 |
| 55 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.84640601 |
| 56 | Tight junction_Homo sapiens_hsa04530 | 0.84553828 |
| 57 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.83321561 |
| 58 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.82901808 |
| 59 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.81807138 |
| 60 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.80703565 |
| 61 | Cell cycle_Homo sapiens_hsa04110 | 0.80603976 |
| 62 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.80016333 |
| 63 | Long-term depression_Homo sapiens_hsa04730 | 0.79400183 |
| 64 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.78004687 |
| 65 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.75071261 |
| 66 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.73759519 |
| 67 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.73161965 |
| 68 | Adherens junction_Homo sapiens_hsa04520 | 0.70387867 |
| 69 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.70018765 |
| 70 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.69253201 |
| 71 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.69097192 |
| 72 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.68148664 |
| 73 | Cocaine addiction_Homo sapiens_hsa05030 | 0.67750296 |
| 74 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.67421426 |
| 75 | Circadian rhythm_Homo sapiens_hsa04710 | 0.67207789 |
| 76 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.67179921 |
| 77 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.65544537 |
| 78 | Renin secretion_Homo sapiens_hsa04924 | 0.63914037 |
| 79 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.63875068 |
| 80 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.60871660 |
| 81 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.60788177 |
| 82 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.59016334 |
| 83 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.57665608 |
| 84 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.56789719 |
| 85 | Mismatch repair_Homo sapiens_hsa03430 | 0.56630022 |
| 86 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.55422335 |
| 87 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.54819313 |
| 88 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.52730153 |
| 89 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.52448940 |
| 90 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.51696422 |
| 91 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.51021098 |
| 92 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.50686868 |
| 93 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.50116244 |
| 94 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.49942107 |
| 95 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.49574696 |
| 96 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.48941648 |
| 97 | Histidine metabolism_Homo sapiens_hsa00340 | 0.47599830 |
| 98 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.47427054 |
| 99 | Peroxisome_Homo sapiens_hsa04146 | 0.47364219 |
| 100 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.46421654 |

