

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | response to pheromone (GO:0019236) | 9.10315267 |
| 2 | sperm motility (GO:0030317) | 8.09279186 |
| 3 | acrosome reaction (GO:0007340) | 7.96336143 |
| 4 | axonemal dynein complex assembly (GO:0070286) | 7.83512559 |
| 5 | motile cilium assembly (GO:0044458) | 7.51897595 |
| 6 | fusion of sperm to egg plasma membrane (GO:0007342) | 6.97924069 |
| 7 | multicellular organism reproduction (GO:0032504) | 6.38920299 |
| 8 | cilium or flagellum-dependent cell motility (GO:0001539) | 6.23762719 |
| 9 | sperm capacitation (GO:0048240) | 5.96306293 |
| 10 | spermatid development (GO:0007286) | 5.94229293 |
| 11 | sperm-egg recognition (GO:0035036) | 5.81603009 |
| 12 | epithelial cilium movement (GO:0003351) | 5.66150496 |
| 13 | binding of sperm to zona pellucida (GO:0007339) | 5.62562599 |
| 14 | cilium movement (GO:0003341) | 5.46316254 |
| 15 | regulation of cilium movement (GO:0003352) | 5.15469533 |
| 16 | protein polyglutamylation (GO:0018095) | 5.14077300 |
| 17 | plasma membrane fusion (GO:0045026) | 5.09296200 |
| 18 | reproduction (GO:0000003) | 5.07694081 |
| 19 | cell-cell recognition (GO:0009988) | 4.86655949 |
| 20 | single strand break repair (GO:0000012) | 4.82078592 |
| 21 | microtubule depolymerization (GO:0007019) | 4.60906963 |
| 22 | single fertilization (GO:0007338) | 4.41891740 |
| 23 | protein targeting to Golgi (GO:0000042) | 4.28537246 |
| 24 | DNA packaging (GO:0006323) | 4.26511598 |
| 25 | chromosome condensation (GO:0030261) | 4.17211718 |
| 26 | establishment of protein localization to Golgi (GO:0072600) | 4.03481850 |
| 27 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 4.01985628 |
| 28 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 4.00153763 |
| 29 | coenzyme catabolic process (GO:0009109) | 3.98871096 |
| 30 | rRNA methylation (GO:0031167) | 3.95707390 |
| 31 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.95326508 |
| 32 | spermatid nucleus differentiation (GO:0007289) | 3.92858603 |
| 33 | microtubule polymerization or depolymerization (GO:0031109) | 3.89377884 |
| 34 | phosphatidylethanolamine metabolic process (GO:0046337) | 3.88490266 |
| 35 | positive regulation of glycolytic process (GO:0045821) | 3.85770982 |
| 36 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.80805341 |
| 37 | cellular ketone body metabolic process (GO:0046950) | 3.76750142 |
| 38 | ventricular system development (GO:0021591) | 3.73583516 |
| 39 | organic cation transport (GO:0015695) | 3.72535072 |
| 40 | calcium ion-dependent exocytosis (GO:0017156) | 3.70864726 |
| 41 | spermatogenesis (GO:0007283) | 3.63527396 |
| 42 | male gamete generation (GO:0048232) | 3.63489337 |
| 43 | centriole assembly (GO:0098534) | 3.59547754 |
| 44 | regulation of Rab GTPase activity (GO:0032313) | 3.56336854 |
| 45 | positive regulation of Rab GTPase activity (GO:0032851) | 3.56336854 |
| 46 | microtubule severing (GO:0051013) | 3.54743389 |
| 47 | male meiosis (GO:0007140) | 3.51911836 |
| 48 | hemidesmosome assembly (GO:0031581) | 3.49591482 |
| 49 | cartilage morphogenesis (GO:0060536) | 3.43331803 |
| 50 | fertilization (GO:0009566) | 3.42622149 |
| 51 | intraciliary transport (GO:0042073) | 3.40226519 |
| 52 | centriole replication (GO:0007099) | 3.39756898 |
| 53 | left/right axis specification (GO:0070986) | 3.38823240 |
| 54 | negative regulation of inclusion body assembly (GO:0090084) | 3.38360557 |
| 55 | cilium organization (GO:0044782) | 3.36834091 |
| 56 | cilium assembly (GO:0042384) | 3.34160219 |
| 57 | rRNA modification (GO:0000154) | 3.34030088 |
| 58 | gamete generation (GO:0007276) | 3.33702421 |
| 59 | embryonic forelimb morphogenesis (GO:0035115) | 3.30944405 |
| 60 | germ cell development (GO:0007281) | 3.26556470 |
| 61 | ketone body metabolic process (GO:1902224) | 3.20530194 |
| 62 | peptidyl-tyrosine autophosphorylation (GO:0038083) | 3.17793705 |
| 63 | axoneme assembly (GO:0035082) | 3.17108498 |
| 64 | bundle of His cell to Purkinje myocyte communication (GO:0086069) | 3.16210535 |
| 65 | desmosome organization (GO:0002934) | 3.13021123 |
| 66 | histone mRNA catabolic process (GO:0071044) | 3.10691952 |
| 67 | Golgi to endosome transport (GO:0006895) | 3.09906932 |
| 68 | regulation of hippo signaling (GO:0035330) | 3.06728836 |
| 69 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.06137516 |
| 70 | regulation of female gonad development (GO:2000194) | 3.04262742 |
| 71 | regulation of centriole replication (GO:0046599) | 3.02123713 |
| 72 | ribosome assembly (GO:0042255) | 2.88541928 |
| 73 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.85576645 |
| 74 | protein localization to Golgi apparatus (GO:0034067) | 2.85079585 |
| 75 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.83070511 |
| 76 | organ growth (GO:0035265) | 2.80231690 |
| 77 | microtubule nucleation (GO:0007020) | 2.79873687 |
| 78 | aminoglycoside antibiotic metabolic process (GO:0030647) | 2.79031151 |
| 79 | forelimb morphogenesis (GO:0035136) | 2.77371948 |
| 80 | musculoskeletal movement (GO:0050881) | 2.76835779 |
| 81 | multicellular organismal movement (GO:0050879) | 2.76835779 |
| 82 | keratinization (GO:0031424) | 2.75128456 |
| 83 | histone exchange (GO:0043486) | 2.70565043 |
| 84 | keratinocyte proliferation (GO:0043616) | 2.65157097 |
| 85 | multicellular organismal reproductive process (GO:0048609) | 2.64825069 |
| 86 | cilium morphogenesis (GO:0060271) | 2.63661957 |
| 87 | polyamine biosynthetic process (GO:0006596) | 2.62476998 |
| 88 | male sex determination (GO:0030238) | 2.62476384 |
| 89 | carnitine transmembrane transport (GO:1902603) | 2.57024034 |
| 90 | carnitine shuttle (GO:0006853) | 2.55783097 |
| 91 | pattern specification involved in kidney development (GO:0061004) | 2.55478701 |
| 92 | regulation of microtubule-based movement (GO:0060632) | 2.55235453 |
| 93 | seminiferous tubule development (GO:0072520) | 2.53976441 |
| 94 | negative regulation of complement activation (GO:0045916) | 2.52983281 |
| 95 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.50916000 |
| 96 | terpenoid biosynthetic process (GO:0016114) | 2.50508273 |
| 97 | kidney mesenchyme development (GO:0072074) | 2.49292100 |
| 98 | mitochondrial fission (GO:0000266) | 2.49239782 |
| 99 | male meiosis I (GO:0007141) | 2.47691604 |
| 100 | amino-acid betaine transport (GO:0015838) | 2.45260586 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.86139469 |
| 2 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.68702713 |
| 3 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 2.58388182 |
| 4 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 2.56496731 |
| 5 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.53284057 |
| 6 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 2.46793210 |
| 7 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.33989205 |
| 8 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.30501752 |
| 9 | * CJUN_26792858_Chip-Seq_BT549_Human | 2.20287900 |
| 10 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 2.19923214 |
| 11 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.14131292 |
| 12 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.09771812 |
| 13 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.09771812 |
| 14 | GATA1_22025678_ChIP-Seq_K562_Human | 2.04426971 |
| 15 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.92984962 |
| 16 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.91746868 |
| 17 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.84387387 |
| 18 | FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.82527324 |
| 19 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.82509642 |
| 20 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.81614299 |
| 21 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.80560305 |
| 22 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.75114284 |
| 23 | FUS_26573619_Chip-Seq_HEK293_Human | 1.71984066 |
| 24 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.71141256 |
| 25 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.70956372 |
| 26 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.70291388 |
| 27 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.68811637 |
| 28 | AR_25329375_ChIP-Seq_VCAP_Human | 1.66675844 |
| 29 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.66018473 |
| 30 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.63476090 |
| 31 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.62066141 |
| 32 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.61016535 |
| 33 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.61016535 |
| 34 | RXR_22108803_ChIP-Seq_LS180_Human | 1.60849874 |
| 35 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.60125228 |
| 36 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.59872209 |
| 37 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.59416433 |
| 38 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.59353821 |
| 39 | * KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.53993319 |
| 40 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.53563710 |
| 41 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.50177081 |
| 42 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.50136748 |
| 43 | * ERA_21632823_ChIP-Seq_H3396_Human | 1.49593554 |
| 44 | TP63_23658742_ChIP-Seq_EP156T_Human | 1.48658980 |
| 45 | * PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.48132992 |
| 46 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.45296059 |
| 47 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.45126608 |
| 48 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.43627549 |
| 49 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.43367530 |
| 50 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.41131414 |
| 51 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.39592536 |
| 52 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.39353803 |
| 53 | STAT3_23295773_ChIP-Seq_U87_Human | 1.39082314 |
| 54 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.37406034 |
| 55 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 1.36070407 |
| 56 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.35990644 |
| 57 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.35907162 |
| 58 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.34407071 |
| 59 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.33312764 |
| 60 | * KLF5_25053715_ChIP-Seq_YYC3_Human | 1.31010556 |
| 61 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.29783095 |
| 62 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.28893262 |
| 63 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.27780693 |
| 64 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.27018971 |
| 65 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.26708073 |
| 66 | TBL1_22424771_ChIP-Seq_293T_Human | 1.26144335 |
| 67 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.25995971 |
| 68 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.25526273 |
| 69 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.25041685 |
| 70 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.24179442 |
| 71 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.22261010 |
| 72 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.20879948 |
| 73 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.20879948 |
| 74 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 1.19834319 |
| 75 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.17880654 |
| 76 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.17332081 |
| 77 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.17309997 |
| 78 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.16877895 |
| 79 | P300_19829295_ChIP-Seq_ESCs_Human | 1.16834766 |
| 80 | * PHF8_20622854_ChIP-Seq_HELA_Human | 1.16776100 |
| 81 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.14624629 |
| 82 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.13960520 |
| 83 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.12818852 |
| 84 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.12818852 |
| 85 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.12081628 |
| 86 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.11797392 |
| 87 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.11578447 |
| 88 | CBP_21632823_ChIP-Seq_H3396_Human | 1.09620747 |
| 89 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.08152271 |
| 90 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.07696413 |
| 91 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.07293388 |
| 92 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.07177030 |
| 93 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.07022319 |
| 94 | NCOR_22424771_ChIP-Seq_293T_Human | 1.06958900 |
| 95 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.06891847 |
| 96 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.05921022 |
| 97 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.05767733 |
| 98 | CDX2_22108803_ChIP-Seq_LS180_Human | 1.05155456 |
| 99 | NFYA_21822215_ChIP-Seq_K562_Human | 1.04791384 |
| 100 | FOXM1_26456572_ChIP-Seq_MCF-7_Human | 1.04557070 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 7.23571200 |
| 2 | MP0000579_abnormal_nail_morphology | 4.85166944 |
| 3 | MP0003950_abnormal_plasma_membrane | 3.87588274 |
| 4 | MP0003646_muscle_fatigue | 3.68545456 |
| 5 | MP0002282_abnormal_trachea_morphology | 3.10339438 |
| 6 | MP0010234_abnormal_vibrissa_follicle | 2.55080546 |
| 7 | MP0002249_abnormal_larynx_morphology | 2.53302252 |
| 8 | MP0010368_abnormal_lymphatic_system | 2.50758317 |
| 9 | MP0003698_abnormal_male_reproductive | 2.40646225 |
| 10 | MP0005275_abnormal_skin_tensile | 2.36075692 |
| 11 | MP0000751_myopathy | 2.29237147 |
| 12 | MP0001929_abnormal_gametogenesis | 2.18730058 |
| 13 | MP0001879_abnormal_lymphatic_vessel | 2.13565381 |
| 14 | MP0001348_abnormal_lacrimal_gland | 2.13562852 |
| 15 | MP0005377_hearing/vestibular/ear_phenot | 1.98961496 |
| 16 | MP0003878_abnormal_ear_physiology | 1.98961496 |
| 17 | MP0005248_abnormal_Harderian_gland | 1.92214897 |
| 18 | MP0004272_abnormal_basement_membrane | 1.91658484 |
| 19 | MP0003045_fibrosis | 1.84340722 |
| 20 | MP0008004_abnormal_stomach_pH | 1.83571497 |
| 21 | MP0009780_abnormal_chondrocyte_physiolo | 1.81458946 |
| 22 | MP0008875_abnormal_xenobiotic_pharmacok | 1.75430781 |
| 23 | MP0002234_abnormal_pharynx_morphology | 1.67973010 |
| 24 | MP0002796_impaired_skin_barrier | 1.62496495 |
| 25 | MP0000678_abnormal_parathyroid_gland | 1.61562567 |
| 26 | MP0000762_abnormal_tongue_morphology | 1.60887001 |
| 27 | MP0000749_muscle_degeneration | 1.60405837 |
| 28 | MP0000733_abnormal_muscle_development | 1.58945366 |
| 29 | MP0002332_abnormal_exercise_endurance | 1.55843238 |
| 30 | MP0005670_abnormal_white_adipose | 1.55444517 |
| 31 | MP0004264_abnormal_extraembryonic_tissu | 1.52636747 |
| 32 | MP0003718_maternal_effect | 1.47847393 |
| 33 | MP0000467_abnormal_esophagus_morphology | 1.47458003 |
| 34 | MP0004233_abnormal_muscle_weight | 1.46554654 |
| 35 | MP0005360_urolithiasis | 1.43931270 |
| 36 | MP0002168_other_aberrant_phenotype | 1.42733056 |
| 37 | MP0005395_other_phenotype | 1.41981332 |
| 38 | MP0004782_abnormal_surfactant_physiolog | 1.41858763 |
| 39 | MP0002161_abnormal_fertility/fecundity | 1.37212070 |
| 40 | MP0003315_abnormal_perineum_morphology | 1.32664529 |
| 41 | MP0002127_abnormal_cardiovascular_syste | 1.26294235 |
| 42 | MP0002060_abnormal_skin_morphology | 1.23202605 |
| 43 | MP0010678_abnormal_skin_adnexa | 1.22785720 |
| 44 | MP0002295_abnormal_pulmonary_circulatio | 1.21686171 |
| 45 | MP0005501_abnormal_skin_physiology | 1.15048166 |
| 46 | MP0000427_abnormal_hair_cycle | 1.14853798 |
| 47 | MP0002098_abnormal_vibrissa_morphology | 1.13603670 |
| 48 | MP0002160_abnormal_reproductive_system | 1.12492652 |
| 49 | MP0004084_abnormal_cardiac_muscle | 1.11759401 |
| 50 | MP0003942_abnormal_urinary_system | 1.11376202 |
| 51 | MP0003693_abnormal_embryo_hatching | 1.11096243 |
| 52 | MP0008438_abnormal_cutaneous_collagen | 1.10611594 |
| 53 | MP0003937_abnormal_limbs/digits/tail_de | 1.09446513 |
| 54 | MP0002210_abnormal_sex_determination | 1.06205747 |
| 55 | MP0001849_ear_inflammation | 1.06175037 |
| 56 | MP0009697_abnormal_copulation | 1.04182960 |
| 57 | MP0004215_abnormal_myocardial_fiber | 1.00206726 |
| 58 | MP0000750_abnormal_muscle_regeneration | 1.00047871 |
| 59 | MP0001661_extended_life_span | 0.96878094 |
| 60 | MP0002108_abnormal_muscle_morphology | 0.95251633 |
| 61 | MP0000383_abnormal_hair_follicle | 0.93996452 |
| 62 | MP0001216_abnormal_epidermal_layer | 0.92362019 |
| 63 | MP0004484_altered_response_of | 0.92343433 |
| 64 | MP0010771_integument_phenotype | 0.90050870 |
| 65 | MP0005365_abnormal_bile_salt | 0.89410437 |
| 66 | MP0004085_abnormal_heartbeat | 0.89042879 |
| 67 | MP0000653_abnormal_sex_gland | 0.88298634 |
| 68 | MP0009053_abnormal_anal_canal | 0.87780050 |
| 69 | MP0005647_abnormal_sex_gland | 0.87318552 |
| 70 | MP0004036_abnormal_muscle_relaxation | 0.85146184 |
| 71 | MP0005330_cardiomyopathy | 0.82775091 |
| 72 | MP0005266_abnormal_metabolism | 0.82770608 |
| 73 | MP0003755_abnormal_palate_morphology | 0.81032872 |
| 74 | MP0005253_abnormal_eye_physiology | 0.79175832 |
| 75 | MP0000537_abnormal_urethra_morphology | 0.79054661 |
| 76 | MP0002138_abnormal_hepatobiliary_system | 0.77911549 |
| 77 | MP0000759_abnormal_skeletal_muscle | 0.77695928 |
| 78 | MP0001145_abnormal_male_reproductive | 0.77518910 |
| 79 | MP0005084_abnormal_gallbladder_morpholo | 0.77099330 |
| 80 | MP0006138_congestive_heart_failure | 0.76260346 |
| 81 | MP0005623_abnormal_meninges_morphology | 0.75750058 |
| 82 | MP0008789_abnormal_olfactory_epithelium | 0.75624242 |
| 83 | MP0000534_abnormal_ureter_morphology | 0.75084340 |
| 84 | MP0002132_abnormal_respiratory_system | 0.74050899 |
| 85 | MP0000163_abnormal_cartilage_morphology | 0.73999884 |
| 86 | MP0003252_abnormal_bile_duct | 0.72008580 |
| 87 | MP0000013_abnormal_adipose_tissue | 0.68859224 |
| 88 | MP0002269_muscular_atrophy | 0.65890637 |
| 89 | MP0005646_abnormal_pituitary_gland | 0.65625892 |
| 90 | MP0004145_abnormal_muscle_electrophysio | 0.65613412 |
| 91 | MP0005551_abnormal_eye_electrophysiolog | 0.63669469 |
| 92 | MP0001485_abnormal_pinna_reflex | 0.62281853 |
| 93 | MP0005083_abnormal_biliary_tract | 0.61529615 |
| 94 | MP0003936_abnormal_reproductive_system | 0.59113165 |
| 95 | MP0003935_abnormal_craniofacial_develop | 0.59068876 |
| 96 | MP0001664_abnormal_digestion | 0.56821077 |
| 97 | MP0005376_homeostasis/metabolism_phenot | 0.54931270 |
| 98 | MP0004957_abnormal_blastocyst_morpholog | 0.53912495 |
| 99 | MP0008058_abnormal_DNA_repair | 0.53761350 |
| 100 | MP0004087_abnormal_muscle_fiber | 0.53619170 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 6.11261880 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.97443438 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 5.97443438 |
| 4 | Abnormal respiratory motile cilium physiology (HP:0012261) | 5.58841455 |
| 5 | Abnormal ciliary motility (HP:0012262) | 5.41284906 |
| 6 | Abnormal respiratory motile cilium morphology (HP:0005938) | 5.15869768 |
| 7 | Abnormal respiratory epithelium morphology (HP:0012253) | 5.15869768 |
| 8 | Severe visual impairment (HP:0001141) | 4.44997468 |
| 9 | Rhinitis (HP:0012384) | 4.36489325 |
| 10 | Chronic bronchitis (HP:0004469) | 3.96433440 |
| 11 | Thick nail (HP:0001805) | 3.53696330 |
| 12 | Male infertility (HP:0003251) | 3.49002036 |
| 13 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 3.08307241 |
| 14 | Abnormality of macular pigmentation (HP:0008002) | 3.08203024 |
| 15 | Chronic hepatic failure (HP:0100626) | 3.00900491 |
| 16 | Popliteal pterygium (HP:0009756) | 2.97988894 |
| 17 | Tubulointerstitial nephritis (HP:0001970) | 2.97124933 |
| 18 | Infertility (HP:0000789) | 2.96849219 |
| 19 | Abnormality of nail color (HP:0100643) | 2.96603758 |
| 20 | Nephronophthisis (HP:0000090) | 2.92469680 |
| 21 | Occipital encephalocele (HP:0002085) | 2.91445508 |
| 22 | Pancreatic fibrosis (HP:0100732) | 2.79831604 |
| 23 | Spastic paraparesis (HP:0002313) | 2.77728606 |
| 24 | Nasal polyposis (HP:0100582) | 2.73679991 |
| 25 | Abnormality of the renal medulla (HP:0100957) | 2.70673446 |
| 26 | Hyperkalemia (HP:0002153) | 2.70462153 |
| 27 | Bell-shaped thorax (HP:0001591) | 2.67753070 |
| 28 | Chromsome breakage (HP:0040012) | 2.64779261 |
| 29 | Bronchiectasis (HP:0002110) | 2.64028559 |
| 30 | Attenuation of retinal blood vessels (HP:0007843) | 2.62945226 |
| 31 | Resting tremor (HP:0002322) | 2.58980097 |
| 32 | True hermaphroditism (HP:0010459) | 2.54664277 |
| 33 | Cerebellar dysplasia (HP:0007033) | 2.53506301 |
| 34 | Median cleft lip (HP:0000161) | 2.44207358 |
| 35 | Milia (HP:0001056) | 2.42046523 |
| 36 | Short nail (HP:0001799) | 2.35553988 |
| 37 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.35537223 |
| 38 | Congenital, generalized hypertrichosis (HP:0004540) | 2.34638389 |
| 39 | Reduced subcutaneous adipose tissue (HP:0003758) | 2.32887295 |
| 40 | Pancreatic cysts (HP:0001737) | 2.30557102 |
| 41 | Enlarged epiphyses (HP:0010580) | 2.25184430 |
| 42 | Type II lissencephaly (HP:0007260) | 2.23576935 |
| 43 | Muscle hypertrophy of the lower extremities (HP:0008968) | 2.21986274 |
| 44 | Abnormality of DNA repair (HP:0003254) | 2.20905402 |
| 45 | Hypophosphatemic rickets (HP:0004912) | 2.17805226 |
| 46 | Stage 5 chronic kidney disease (HP:0003774) | 2.16914773 |
| 47 | Reduced antithrombin III activity (HP:0001976) | 2.16804806 |
| 48 | Cone-rod dystrophy (HP:0000548) | 2.14144419 |
| 49 | Atrophic scars (HP:0001075) | 2.13237299 |
| 50 | Abnormality of the nasal mucosa (HP:0000433) | 2.11455001 |
| 51 | Onycholysis (HP:0001806) | 2.10768593 |
| 52 | Asymmetric septal hypertrophy (HP:0001670) | 2.10209084 |
| 53 | Calf muscle hypertrophy (HP:0008981) | 2.09723157 |
| 54 | Amniotic constriction ring (HP:0009775) | 2.09630909 |
| 55 | Abnormality of placental membranes (HP:0011409) | 2.09630909 |
| 56 | Hypoplastic ischia (HP:0003175) | 2.07945325 |
| 57 | Congenital hepatic fibrosis (HP:0002612) | 2.07035552 |
| 58 | Plantar hyperkeratosis (HP:0007556) | 2.04967503 |
| 59 | Paraparesis (HP:0002385) | 2.04773685 |
| 60 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.03858637 |
| 61 | Sclerocornea (HP:0000647) | 2.02811344 |
| 62 | Duplicated collecting system (HP:0000081) | 2.02573091 |
| 63 | Azoospermia (HP:0000027) | 2.02065113 |
| 64 | Abnormality of the calf musculature (HP:0001430) | 2.00710815 |
| 65 | Cystic liver disease (HP:0006706) | 1.98540604 |
| 66 | Abnormality of the preputium (HP:0100587) | 1.98183967 |
| 67 | Abnormality of the renal collecting system (HP:0004742) | 1.97948382 |
| 68 | Renal Fanconi syndrome (HP:0001994) | 1.96018265 |
| 69 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.95501973 |
| 70 | Pili torti (HP:0003777) | 1.94439982 |
| 71 | Postaxial foot polydactyly (HP:0001830) | 1.94411830 |
| 72 | Right ventricular cardiomyopathy (HP:0011663) | 1.93196127 |
| 73 | Abnormal spermatogenesis (HP:0008669) | 1.90918261 |
| 74 | Renal dysplasia (HP:0000110) | 1.88529425 |
| 75 | Tubular atrophy (HP:0000092) | 1.85626812 |
| 76 | Aplasia cutis congenita (HP:0001057) | 1.83207261 |
| 77 | Male pseudohermaphroditism (HP:0000037) | 1.79718851 |
| 78 | Advanced eruption of teeth (HP:0006288) | 1.77784468 |
| 79 | Abnormality of midbrain morphology (HP:0002418) | 1.72810897 |
| 80 | Molar tooth sign on MRI (HP:0002419) | 1.72810897 |
| 81 | Alopecia of scalp (HP:0002293) | 1.71860981 |
| 82 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.70919435 |
| 83 | Abnormality of the ischium (HP:0003174) | 1.70705865 |
| 84 | Tubulointerstitial abnormality (HP:0001969) | 1.70004130 |
| 85 | Elfin facies (HP:0004428) | 1.69960385 |
| 86 | Abnormality of the nasal septum (HP:0000419) | 1.69574700 |
| 87 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.69412477 |
| 88 | Hypoplasia of the uterus (HP:0000013) | 1.69322156 |
| 89 | Abnormality of dentin (HP:0010299) | 1.69241142 |
| 90 | Decreased central vision (HP:0007663) | 1.68873080 |
| 91 | Muscular dystrophy (HP:0003560) | 1.68066329 |
| 92 | Palmoplantar hyperkeratosis (HP:0000972) | 1.67732734 |
| 93 | Chronic sinusitis (HP:0011109) | 1.67663501 |
| 94 | Ureteral duplication (HP:0000073) | 1.66711063 |
| 95 | Abnormal rod and cone electroretinograms (HP:0008323) | 1.65770542 |
| 96 | Pendular nystagmus (HP:0012043) | 1.65550087 |
| 97 | Palmar hyperkeratosis (HP:0010765) | 1.65495167 |
| 98 | Entropion (HP:0000621) | 1.65215052 |
| 99 | Natal tooth (HP:0000695) | 1.62752060 |
| 100 | Furrowed tongue (HP:0000221) | 1.62234282 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | INSRR | 6.66326873 |
| 2 | MST1R | 5.62963366 |
| 3 | STK38L | 3.50878291 |
| 4 | TESK1 | 3.31565979 |
| 5 | PLK4 | 3.30583264 |
| 6 | EPHA2 | 3.12854855 |
| 7 | MET | 2.72975709 |
| 8 | PINK1 | 2.66475814 |
| 9 | MAPK15 | 2.26741435 |
| 10 | MAP4K2 | 2.20050438 |
| 11 | DDR2 | 2.16400569 |
| 12 | STK38 | 2.01749439 |
| 13 | MAP3K9 | 1.99904606 |
| 14 | LATS1 | 1.77414882 |
| 15 | TSSK6 | 1.73528276 |
| 16 | ARAF | 1.58977942 |
| 17 | PRKD3 | 1.50829917 |
| 18 | BRD4 | 1.36673281 |
| 19 | IRAK2 | 1.33898895 |
| 20 | PBK | 1.28993983 |
| 21 | PNCK | 1.24629235 |
| 22 | LATS2 | 1.22433880 |
| 23 | NTRK1 | 1.20396608 |
| 24 | FER | 1.17217509 |
| 25 | MYLK | 1.16017294 |
| 26 | IRAK3 | 1.15169550 |
| 27 | OBSCN | 1.10464385 |
| 28 | EIF2AK3 | 1.10261935 |
| 29 | PLK2 | 1.06104671 |
| 30 | PTK2B | 1.04497774 |
| 31 | GRK1 | 1.03588783 |
| 32 | MARK3 | 1.03215839 |
| 33 | STK24 | 1.02878775 |
| 34 | NEK1 | 1.02334579 |
| 35 | MST4 | 1.02171513 |
| 36 | STK39 | 1.01653733 |
| 37 | EPHB2 | 0.99092724 |
| 38 | CSNK1A1L | 0.95051915 |
| 39 | BMPR1B | 0.93671806 |
| 40 | BRSK2 | 0.89067313 |
| 41 | ABL2 | 0.87163287 |
| 42 | IRAK1 | 0.86715319 |
| 43 | LIMK1 | 0.83088313 |
| 44 | PIM2 | 0.82382955 |
| 45 | NEK6 | 0.82160997 |
| 46 | BRAF | 0.80651354 |
| 47 | TRPM7 | 0.78716262 |
| 48 | TGFBR2 | 0.78251867 |
| 49 | ERBB4 | 0.77642580 |
| 50 | ROCK1 | 0.73262085 |
| 51 | ERBB3 | 0.69797366 |
| 52 | PRKCI | 0.68543687 |
| 53 | CSNK1G3 | 0.67570839 |
| 54 | PTK2 | 0.65394058 |
| 55 | PIK3CG | 0.65213129 |
| 56 | MAP3K2 | 0.64890765 |
| 57 | MAPKAPK5 | 0.63207645 |
| 58 | TGFBR1 | 0.56404772 |
| 59 | ZAK | 0.56330590 |
| 60 | RPS6KA4 | 0.55539078 |
| 61 | PRKG2 | 0.52555320 |
| 62 | MAPKAPK3 | 0.52181092 |
| 63 | MOS | 0.50614808 |
| 64 | STK3 | 0.49106358 |
| 65 | CSNK1G1 | 0.48693897 |
| 66 | RPS6KA5 | 0.48223604 |
| 67 | MAP2K7 | 0.46661796 |
| 68 | CDK3 | 0.46629237 |
| 69 | MAP2K1 | 0.44120390 |
| 70 | TNIK | 0.43391410 |
| 71 | YES1 | 0.43249490 |
| 72 | TLK1 | 0.43185834 |
| 73 | ROCK2 | 0.42378209 |
| 74 | MTOR | 0.40679476 |
| 75 | TTN | 0.40612597 |
| 76 | ADRBK1 | 0.38257144 |
| 77 | BMX | 0.38005219 |
| 78 | CDK7 | 0.37828943 |
| 79 | WNK3 | 0.37704447 |
| 80 | NME1 | 0.37599614 |
| 81 | MUSK | 0.37446497 |
| 82 | ADRBK2 | 0.37429750 |
| 83 | STK10 | 0.35309230 |
| 84 | GRK5 | 0.33424944 |
| 85 | PLK1 | 0.33388063 |
| 86 | WNK1 | 0.32014067 |
| 87 | BCKDK | 0.30230365 |
| 88 | PHKG2 | 0.28852410 |
| 89 | PHKG1 | 0.28852410 |
| 90 | AURKA | 0.27825927 |
| 91 | IGF1R | 0.27774622 |
| 92 | PDPK1 | 0.27363413 |
| 93 | CSNK1G2 | 0.27098117 |
| 94 | PAK3 | 0.26670586 |
| 95 | TESK2 | 0.25966674 |
| 96 | WNK4 | 0.25580555 |
| 97 | PRKAA2 | 0.25207340 |
| 98 | BRSK1 | 0.24799428 |
| 99 | CHEK1 | 0.24405233 |
| 100 | GRK7 | 0.24034844 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.46091472 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.72223540 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 2.69371763 |
| 4 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.63751298 |
| 5 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.32998040 |
| 6 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 2.30461446 |
| 7 | Circadian rhythm_Homo sapiens_hsa04710 | 2.23564249 |
| 8 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.17394929 |
| 9 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 2.10800754 |
| 10 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.92976489 |
| 11 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.91420773 |
| 12 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 1.88752857 |
| 13 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.82039319 |
| 14 | Basal transcription factors_Homo sapiens_hsa03022 | 1.81040180 |
| 15 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.76361710 |
| 16 | Homologous recombination_Homo sapiens_hsa03440 | 1.67219838 |
| 17 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 1.66062200 |
| 18 | ECM-receptor interaction_Homo sapiens_hsa04512 | 1.61099327 |
| 19 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.59318847 |
| 20 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.56211088 |
| 21 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.55068070 |
| 22 | ABC transporters_Homo sapiens_hsa02010 | 1.52426701 |
| 23 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.44697128 |
| 24 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.35574045 |
| 25 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.33462034 |
| 26 | Adherens junction_Homo sapiens_hsa04520 | 1.21968130 |
| 27 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.21845220 |
| 28 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.21174185 |
| 29 | Basal cell carcinoma_Homo sapiens_hsa05217 | 1.19458215 |
| 30 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 1.19384488 |
| 31 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.16582386 |
| 32 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 1.16081419 |
| 33 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 1.16011302 |
| 34 | Tight junction_Homo sapiens_hsa04530 | 1.12617859 |
| 35 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.10993940 |
| 36 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.10427856 |
| 37 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.10278475 |
| 38 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.09591501 |
| 39 | Retinol metabolism_Homo sapiens_hsa00830 | 1.08973796 |
| 40 | Phototransduction_Homo sapiens_hsa04744 | 1.04867443 |
| 41 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.04066368 |
| 42 | Histidine metabolism_Homo sapiens_hsa00340 | 1.03738420 |
| 43 | RNA transport_Homo sapiens_hsa03013 | 1.03495814 |
| 44 | Taste transduction_Homo sapiens_hsa04742 | 1.02414553 |
| 45 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.02182806 |
| 46 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.01362247 |
| 47 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.98488438 |
| 48 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.97559962 |
| 49 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.96906535 |
| 50 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.90543689 |
| 51 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.89259397 |
| 52 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.86002375 |
| 53 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.78595685 |
| 54 | Focal adhesion_Homo sapiens_hsa04510 | 0.76232166 |
| 55 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.74809559 |
| 56 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.72812411 |
| 57 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.72003765 |
| 58 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.71310056 |
| 59 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.68514359 |
| 60 | Base excision repair_Homo sapiens_hsa03410 | 0.66104496 |
| 61 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.65934401 |
| 62 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.65826993 |
| 63 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.63608914 |
| 64 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.63076937 |
| 65 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.62900978 |
| 66 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.61629881 |
| 67 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.60256326 |
| 68 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.59998868 |
| 69 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.59516008 |
| 70 | Purine metabolism_Homo sapiens_hsa00230 | 0.58131679 |
| 71 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.56564450 |
| 72 | Mineral absorption_Homo sapiens_hsa04978 | 0.56431508 |
| 73 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.55164167 |
| 74 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.51628441 |
| 75 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.50393548 |
| 76 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.46905889 |
| 77 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.46564686 |
| 78 | Salivary secretion_Homo sapiens_hsa04970 | 0.46242806 |
| 79 | Thyroid cancer_Homo sapiens_hsa05216 | 0.45131296 |
| 80 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.44887486 |
| 81 | Metabolic pathways_Homo sapiens_hsa01100 | 0.43332124 |
| 82 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.42867198 |
| 83 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.42822388 |
| 84 | Apoptosis_Homo sapiens_hsa04210 | 0.40671180 |
| 85 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.40429299 |
| 86 | Bile secretion_Homo sapiens_hsa04976 | 0.40338780 |
| 87 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.39393810 |
| 88 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.38967643 |
| 89 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.38732135 |
| 90 | Gap junction_Homo sapiens_hsa04540 | 0.38584445 |
| 91 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.38142229 |
| 92 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.38087212 |
| 93 | Endocytosis_Homo sapiens_hsa04144 | 0.34670536 |
| 94 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.34225175 |
| 95 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.33905282 |
| 96 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.33462608 |
| 97 | Huntingtons disease_Homo sapiens_hsa05016 | 0.29979917 |
| 98 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.28269240 |
| 99 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.28115579 |
| 100 | Axon guidance_Homo sapiens_hsa04360 | 0.28080610 |

