

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 6.42604683 |
| 2 | regulation of cilium movement (GO:0003352) | 6.40030565 |
| 3 | response to pheromone (GO:0019236) | 6.25882753 |
| 4 | rRNA methylation (GO:0031167) | 6.24917521 |
| 5 | acrosome reaction (GO:0007340) | 5.59765090 |
| 6 | rRNA modification (GO:0000154) | 5.57720017 |
| 7 | DNA deamination (GO:0045006) | 5.23008191 |
| 8 | fusion of sperm to egg plasma membrane (GO:0007342) | 5.17635683 |
| 9 | cellular ketone body metabolic process (GO:0046950) | 5.06614098 |
| 10 | axoneme assembly (GO:0035082) | 4.67251567 |
| 11 | ketone body metabolic process (GO:1902224) | 4.45650284 |
| 12 | multicellular organism reproduction (GO:0032504) | 4.45081591 |
| 13 | sperm-egg recognition (GO:0035036) | 4.34422033 |
| 14 | brain morphogenesis (GO:0048854) | 4.15107252 |
| 15 | plasma membrane fusion (GO:0045026) | 4.10262232 |
| 16 | nonmotile primary cilium assembly (GO:0035058) | 3.98259176 |
| 17 | spermatid development (GO:0007286) | 3.97496953 |
| 18 | sperm capacitation (GO:0048240) | 3.86040672 |
| 19 | reproduction (GO:0000003) | 3.84850302 |
| 20 | single strand break repair (GO:0000012) | 3.84702591 |
| 21 | negative regulation of multicellular organism growth (GO:0040015) | 3.84177494 |
| 22 | signal peptide processing (GO:0006465) | 3.81797643 |
| 23 | cellular response to exogenous dsRNA (GO:0071360) | 3.80941331 |
| 24 | regulation of microtubule-based movement (GO:0060632) | 3.79655363 |
| 25 | cell-cell recognition (GO:0009988) | 3.73084828 |
| 26 | protein polyglutamylation (GO:0018095) | 3.72484585 |
| 27 | piRNA metabolic process (GO:0034587) | 3.72017860 |
| 28 | spermatid nucleus differentiation (GO:0007289) | 3.65396024 |
| 29 | coenzyme catabolic process (GO:0009109) | 3.60365653 |
| 30 | binding of sperm to zona pellucida (GO:0007339) | 3.55910039 |
| 31 | microtubule depolymerization (GO:0007019) | 3.55820244 |
| 32 | centriole replication (GO:0007099) | 3.53615611 |
| 33 | RNA destabilization (GO:0050779) | 3.47717271 |
| 34 | cytidine deamination (GO:0009972) | 3.42929976 |
| 35 | cytidine metabolic process (GO:0046087) | 3.42929976 |
| 36 | cytidine catabolic process (GO:0006216) | 3.42929976 |
| 37 | microtubule polymerization or depolymerization (GO:0031109) | 3.37905536 |
| 38 | indole-containing compound catabolic process (GO:0042436) | 3.37222771 |
| 39 | indolalkylamine catabolic process (GO:0046218) | 3.37222771 |
| 40 | tryptophan catabolic process (GO:0006569) | 3.37222771 |
| 41 | establishment of protein localization to Golgi (GO:0072600) | 3.33384825 |
| 42 | glycerol ether metabolic process (GO:0006662) | 3.31979132 |
| 43 | regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091 | 3.29068142 |
| 44 | protein targeting to Golgi (GO:0000042) | 3.19582819 |
| 45 | tryptophan metabolic process (GO:0006568) | 3.19477324 |
| 46 | kynurenine metabolic process (GO:0070189) | 3.18330225 |
| 47 | negative regulation of response to food (GO:0032096) | 3.16550787 |
| 48 | negative regulation of appetite (GO:0032099) | 3.16550787 |
| 49 | single fertilization (GO:0007338) | 3.14733632 |
| 50 | cellular response to leptin stimulus (GO:0044320) | 3.11866704 |
| 51 | regulation of centriole replication (GO:0046599) | 3.11389251 |
| 52 | indolalkylamine metabolic process (GO:0006586) | 3.09594455 |
| 53 | DNA methylation involved in gamete generation (GO:0043046) | 3.06249096 |
| 54 | ether metabolic process (GO:0018904) | 3.05579413 |
| 55 | artery smooth muscle contraction (GO:0014824) | 3.05565779 |
| 56 | reciprocal meiotic recombination (GO:0007131) | 3.00293630 |
| 57 | reciprocal DNA recombination (GO:0035825) | 3.00293630 |
| 58 | spermatogenesis (GO:0007283) | 2.97886448 |
| 59 | male gamete generation (GO:0048232) | 2.96948676 |
| 60 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 2.96065866 |
| 61 | epithelial cilium movement (GO:0003351) | 2.91744589 |
| 62 | cilium morphogenesis (GO:0060271) | 2.91473808 |
| 63 | phosphatidylethanolamine metabolic process (GO:0046337) | 2.91057971 |
| 64 | microtubule severing (GO:0051013) | 2.86134221 |
| 65 | photoreceptor cell maintenance (GO:0045494) | 2.85722881 |
| 66 | positive regulation of phosphoprotein phosphatase activity (GO:0032516) | 2.83008864 |
| 67 | neuronal action potential propagation (GO:0019227) | 2.78787247 |
| 68 | cullin deneddylation (GO:0010388) | 2.78575523 |
| 69 | pyrimidine ribonucleoside catabolic process (GO:0046133) | 2.77643662 |
| 70 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.77423051 |
| 71 | gamete generation (GO:0007276) | 2.75736648 |
| 72 | tonic smooth muscle contraction (GO:0014820) | 2.74414088 |
| 73 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 2.73832474 |
| 74 | NAD biosynthetic process (GO:0009435) | 2.72950217 |
| 75 | calcium ion-dependent exocytosis (GO:0017156) | 2.72243732 |
| 76 | purine-containing compound salvage (GO:0043101) | 2.70314105 |
| 77 | serotonin receptor signaling pathway (GO:0007210) | 2.68369081 |
| 78 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 2.68175870 |
| 79 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 2.68133116 |
| 80 | ATP synthesis coupled proton transport (GO:0015986) | 2.68133116 |
| 81 | axonemal dynein complex assembly (GO:0070286) | 2.67554543 |
| 82 | sulfation (GO:0051923) | 2.67144045 |
| 83 | platelet dense granule organization (GO:0060155) | 2.67066230 |
| 84 | regulation of interleukin-13 production (GO:0032656) | 2.63731131 |
| 85 | negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315) | 2.63724931 |
| 86 | L-fucose catabolic process (GO:0042355) | 2.61296434 |
| 87 | fucose catabolic process (GO:0019317) | 2.61296434 |
| 88 | L-fucose metabolic process (GO:0042354) | 2.61296434 |
| 89 | cofactor catabolic process (GO:0051187) | 2.60345781 |
| 90 | cilium organization (GO:0044782) | 2.56317261 |
| 91 | male meiosis I (GO:0007141) | 2.55256781 |
| 92 | organic cation transport (GO:0015695) | 2.54958760 |
| 93 | regulation of penile erection (GO:0060405) | 2.51511893 |
| 94 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 2.51084458 |
| 95 | centriole assembly (GO:0098534) | 2.50943530 |
| 96 | proteasome assembly (GO:0043248) | 2.48364772 |
| 97 | fertilization (GO:0009566) | 2.48140400 |
| 98 | nucleotide transmembrane transport (GO:1901679) | 2.47438255 |
| 99 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 2.45895890 |
| 100 | ovulation cycle (GO:0042698) | 2.45701549 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.31668803 |
| 2 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.99724746 |
| 3 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.89689226 |
| 4 | VDR_22108803_ChIP-Seq_LS180_Human | 2.88820112 |
| 5 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 2.40828453 |
| 6 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.38313461 |
| 7 | FUS_26573619_Chip-Seq_HEK293_Human | 2.33213275 |
| 8 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.15560179 |
| 9 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.11935164 |
| 10 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.11392589 |
| 11 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.09497952 |
| 12 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.02867713 |
| 13 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 2.00717267 |
| 14 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.99140292 |
| 15 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.99140292 |
| 16 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.93999467 |
| 17 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.92353306 |
| 18 | P300_19829295_ChIP-Seq_ESCs_Human | 1.88594943 |
| 19 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.87283038 |
| 20 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.86609659 |
| 21 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.83698452 |
| 22 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.83698452 |
| 23 | EWS_26573619_Chip-Seq_HEK293_Human | 1.82979727 |
| 24 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.80102182 |
| 25 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.79691921 |
| 26 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.78853500 |
| 27 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.77545812 |
| 28 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 1.77419531 |
| 29 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.76670872 |
| 30 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.74433882 |
| 31 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.67750157 |
| 32 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 1.60771717 |
| 33 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.60110319 |
| 34 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.58927991 |
| 35 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 1.55714244 |
| 36 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.53891718 |
| 37 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.51619918 |
| 38 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.51619918 |
| 39 | AR_25329375_ChIP-Seq_VCAP_Human | 1.43327501 |
| 40 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.41524040 |
| 41 | NCOR_22424771_ChIP-Seq_293T_Human | 1.40504116 |
| 42 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 1.40141618 |
| 43 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.39987880 |
| 44 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.39429250 |
| 45 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.38841319 |
| 46 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.37067770 |
| 47 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.36927954 |
| 48 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.36292887 |
| 49 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.35326125 |
| 50 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.35326125 |
| 51 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.34791695 |
| 52 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.34392088 |
| 53 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.33858555 |
| 54 | VDR_23849224_ChIP-Seq_CD4+_Human | 1.32610075 |
| 55 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.31769555 |
| 56 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.31069995 |
| 57 | STAT3_23295773_ChIP-Seq_U87_Human | 1.30901856 |
| 58 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.30241181 |
| 59 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.30156853 |
| 60 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.29751826 |
| 61 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.29722810 |
| 62 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.29636427 |
| 63 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.29536803 |
| 64 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.29476332 |
| 65 | CDX2_22108803_ChIP-Seq_LS180_Human | 1.29364588 |
| 66 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.28920517 |
| 67 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.27974780 |
| 68 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 1.26004555 |
| 69 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.25862503 |
| 70 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.23679703 |
| 71 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.21704056 |
| 72 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.21685377 |
| 73 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.20875084 |
| 74 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.20534226 |
| 75 | AR_20517297_ChIP-Seq_VCAP_Human | 1.18592526 |
| 76 | GATA3_26560356_Chip-Seq_TH2_Human | 1.16365942 |
| 77 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.14260587 |
| 78 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.14042371 |
| 79 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.14011848 |
| 80 | IRF1_21803131_ChIP-Seq_MONOCYTES_Human | 1.13928604 |
| 81 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.13745877 |
| 82 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.13116760 |
| 83 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.12791247 |
| 84 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.12421239 |
| 85 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.12193568 |
| 86 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.12087424 |
| 87 | ERA_21632823_ChIP-Seq_H3396_Human | 1.10196641 |
| 88 | TCF4_23295773_ChIP-Seq_U87_Human | 1.09772256 |
| 89 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.09425071 |
| 90 | TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.09420035 |
| 91 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.08996439 |
| 92 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 1.08991847 |
| 93 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.08439535 |
| 94 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.07626526 |
| 95 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.06259231 |
| 96 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.05391341 |
| 97 | GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.05390606 |
| 98 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.05267871 |
| 99 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.03813667 |
| 100 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.03781524 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 5.34432335 |
| 2 | MP0001984_abnormal_olfaction | 3.20663537 |
| 3 | MP0000569_abnormal_digit_pigmentation | 2.87068797 |
| 4 | MP0002736_abnormal_nociception_after | 2.65287967 |
| 5 | MP0001968_abnormal_touch/_nociception | 2.62326903 |
| 6 | MP0003878_abnormal_ear_physiology | 2.45565690 |
| 7 | MP0005377_hearing/vestibular/ear_phenot | 2.45565690 |
| 8 | MP0003880_abnormal_central_pattern | 2.34631659 |
| 9 | MP0003011_delayed_dark_adaptation | 2.34068885 |
| 10 | MP0005379_endocrine/exocrine_gland_phen | 2.23811860 |
| 11 | MP0003718_maternal_effect | 2.08338216 |
| 12 | MP0005551_abnormal_eye_electrophysiolog | 2.06219780 |
| 13 | MP0003698_abnormal_male_reproductive | 2.03778931 |
| 14 | MP0008875_abnormal_xenobiotic_pharmacok | 2.00747554 |
| 15 | MP0001929_abnormal_gametogenesis | 1.96327594 |
| 16 | MP0004381_abnormal_hair_follicle | 1.85904295 |
| 17 | MP0003252_abnormal_bile_duct | 1.85849569 |
| 18 | MP0001986_abnormal_taste_sensitivity | 1.82123881 |
| 19 | MP0005310_abnormal_salivary_gland | 1.68191500 |
| 20 | MP0004742_abnormal_vestibular_system | 1.66784289 |
| 21 | MP0005365_abnormal_bile_salt | 1.62371792 |
| 22 | MP0005671_abnormal_response_to | 1.59567968 |
| 23 | MP0009697_abnormal_copulation | 1.59490034 |
| 24 | MP0002163_abnormal_gland_morphology | 1.58582026 |
| 25 | MP0008872_abnormal_physiological_respon | 1.57102782 |
| 26 | MP0002138_abnormal_hepatobiliary_system | 1.52705652 |
| 27 | MP0002928_abnormal_bile_duct | 1.48455468 |
| 28 | MP0002272_abnormal_nervous_system | 1.45058727 |
| 29 | MP0000427_abnormal_hair_cycle | 1.43882015 |
| 30 | MP0008877_abnormal_DNA_methylation | 1.41870521 |
| 31 | MP0005075_abnormal_melanosome_morpholog | 1.41614115 |
| 32 | MP0005423_abnormal_somatic_nervous | 1.40873389 |
| 33 | MP0005253_abnormal_eye_physiology | 1.40276561 |
| 34 | MP0002876_abnormal_thyroid_physiology | 1.36562322 |
| 35 | MP0001790_abnormal_immune_system | 1.36514878 |
| 36 | MP0005387_immune_system_phenotype | 1.36514878 |
| 37 | MP0003646_muscle_fatigue | 1.30215119 |
| 38 | MP0002234_abnormal_pharynx_morphology | 1.29346279 |
| 39 | MP0005085_abnormal_gallbladder_physiolo | 1.29190893 |
| 40 | MP0009745_abnormal_behavioral_response | 1.28402425 |
| 41 | MP0002127_abnormal_cardiovascular_syste | 1.27011880 |
| 42 | MP0006072_abnormal_retinal_apoptosis | 1.26180839 |
| 43 | MP0002733_abnormal_thermal_nociception | 1.25933958 |
| 44 | MP0000013_abnormal_adipose_tissue | 1.24674619 |
| 45 | MP0002132_abnormal_respiratory_system | 1.23855880 |
| 46 | MP0001970_abnormal_pain_threshold | 1.23756352 |
| 47 | MP0002160_abnormal_reproductive_system | 1.23391358 |
| 48 | MP0002006_tumorigenesis | 1.22796092 |
| 49 | MP0005084_abnormal_gallbladder_morpholo | 1.20801644 |
| 50 | MP0000372_irregular_coat_pigmentation | 1.20195632 |
| 51 | MP0002166_altered_tumor_susceptibility | 1.20001679 |
| 52 | MP0001485_abnormal_pinna_reflex | 1.18956680 |
| 53 | MP0001486_abnormal_startle_reflex | 1.18458659 |
| 54 | MP0005645_abnormal_hypothalamus_physiol | 1.17887051 |
| 55 | MP0008058_abnormal_DNA_repair | 1.16999205 |
| 56 | MP0002734_abnormal_mechanical_nocicepti | 1.15877354 |
| 57 | MP0001800_abnormal_humoral_immune | 1.13867672 |
| 58 | MP0005083_abnormal_biliary_tract | 1.13460495 |
| 59 | MP0001835_abnormal_antigen_presentation | 1.10944764 |
| 60 | MP0008775_abnormal_heart_ventricle | 1.10385271 |
| 61 | MP0005389_reproductive_system_phenotype | 1.04280639 |
| 62 | MP0000685_abnormal_immune_system | 1.03775381 |
| 63 | MP0003638_abnormal_response/metabolism_ | 1.02296925 |
| 64 | MP0005636_abnormal_mineral_homeostasis | 1.02206313 |
| 65 | MP0001348_abnormal_lacrimal_gland | 1.00095432 |
| 66 | MP0009764_decreased_sensitivity_to | 0.99130597 |
| 67 | MP0006035_abnormal_mitochondrial_morpho | 0.98123587 |
| 68 | MP0002161_abnormal_fertility/fecundity | 0.97725664 |
| 69 | MP0001905_abnormal_dopamine_level | 0.97577308 |
| 70 | MP0005670_abnormal_white_adipose | 0.96874992 |
| 71 | MP0003136_yellow_coat_color | 0.96068502 |
| 72 | MP0006276_abnormal_autonomic_nervous | 0.94497481 |
| 73 | MP0005167_abnormal_blood-brain_barrier | 0.93853469 |
| 74 | MP0002210_abnormal_sex_determination | 0.93390615 |
| 75 | MP0000653_abnormal_sex_gland | 0.91704933 |
| 76 | MP0000015_abnormal_ear_pigmentation | 0.91281995 |
| 77 | MP0006036_abnormal_mitochondrial_physio | 0.90222850 |
| 78 | MP0001963_abnormal_hearing_physiology | 0.89546037 |
| 79 | MP0008995_early_reproductive_senescence | 0.89381096 |
| 80 | MP0004215_abnormal_myocardial_fiber | 0.88527407 |
| 81 | MP0004145_abnormal_muscle_electrophysio | 0.88054242 |
| 82 | MP0004885_abnormal_endolymph | 0.86249567 |
| 83 | MP0001501_abnormal_sleep_pattern | 0.84975209 |
| 84 | MP0001145_abnormal_male_reproductive | 0.84447922 |
| 85 | MP0004142_abnormal_muscle_tone | 0.84302144 |
| 86 | MP0005164_abnormal_response_to | 0.84099998 |
| 87 | MP0003724_increased_susceptibility_to | 0.83943151 |
| 88 | MP0005503_abnormal_tendon_morphology | 0.82842106 |
| 89 | MP0009785_altered_susceptibility_to | 0.81679604 |
| 90 | MP0000516_abnormal_urinary_system | 0.80373024 |
| 91 | MP0005367_renal/urinary_system_phenotyp | 0.80373024 |
| 92 | MP0005174_abnormal_tail_pigmentation | 0.80022542 |
| 93 | MP0002572_abnormal_emotion/affect_behav | 0.79262634 |
| 94 | MP0001765_abnormal_ion_homeostasis | 0.78554770 |
| 95 | MP0005646_abnormal_pituitary_gland | 0.76590100 |
| 96 | MP0002938_white_spotting | 0.76506422 |
| 97 | MP0009046_muscle_twitch | 0.75873963 |
| 98 | MP0002452_abnormal_antigen_presenting | 0.75584510 |
| 99 | MP0000026_abnormal_inner_ear | 0.74642866 |
| 100 | MP0002723_abnormal_immune_serum | 0.74042736 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Attenuation of retinal blood vessels (HP:0007843) | 4.72965698 |
| 2 | Medial flaring of the eyebrow (HP:0010747) | 4.16895897 |
| 3 | Pancreatic cysts (HP:0001737) | 4.09011227 |
| 4 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.89187434 |
| 5 | Nephrogenic diabetes insipidus (HP:0009806) | 3.72303276 |
| 6 | Congenital primary aphakia (HP:0007707) | 3.69947275 |
| 7 | Gait imbalance (HP:0002141) | 3.60240554 |
| 8 | Pancreatic fibrosis (HP:0100732) | 3.37373997 |
| 9 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.21765515 |
| 10 | Congenital stationary night blindness (HP:0007642) | 3.03122186 |
| 11 | Constricted visual fields (HP:0001133) | 2.98724452 |
| 12 | True hermaphroditism (HP:0010459) | 2.89216470 |
| 13 | Poor coordination (HP:0002370) | 2.86767841 |
| 14 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 2.86716327 |
| 15 | Absent/shortened dynein arms (HP:0200106) | 2.78379999 |
| 16 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 2.78379999 |
| 17 | Vaginal atresia (HP:0000148) | 2.77384135 |
| 18 | Genital tract atresia (HP:0001827) | 2.75927873 |
| 19 | Abnormality of the renal cortex (HP:0011035) | 2.75245958 |
| 20 | Cone-rod dystrophy (HP:0000548) | 2.75216869 |
| 21 | Abnormality of macular pigmentation (HP:0008002) | 2.69264995 |
| 22 | Eosinophilia (HP:0001880) | 2.68846722 |
| 23 | Nephronophthisis (HP:0000090) | 2.67219557 |
| 24 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.65276276 |
| 25 | Abnormality of the renal medulla (HP:0100957) | 2.53457179 |
| 26 | Tubulointerstitial nephritis (HP:0001970) | 2.50151974 |
| 27 | Severe visual impairment (HP:0001141) | 2.50022349 |
| 28 | Chronic bronchitis (HP:0004469) | 2.49987988 |
| 29 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.49736073 |
| 30 | Hypoproteinemia (HP:0003075) | 2.47372173 |
| 31 | Type II lissencephaly (HP:0007260) | 2.44765924 |
| 32 | Hypomagnesemia (HP:0002917) | 2.41053031 |
| 33 | Abnormality of alanine metabolism (HP:0010916) | 2.40954670 |
| 34 | Hyperalaninemia (HP:0003348) | 2.40954670 |
| 35 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 2.40954670 |
| 36 | Polyuria (HP:0000103) | 2.38258995 |
| 37 | Abnormality of DNA repair (HP:0003254) | 2.35638673 |
| 38 | Decreased central vision (HP:0007663) | 2.35249591 |
| 39 | Congenital, generalized hypertrichosis (HP:0004540) | 2.34425431 |
| 40 | Generalized aminoaciduria (HP:0002909) | 2.30033930 |
| 41 | Metabolic alkalosis (HP:0200114) | 2.28847947 |
| 42 | Rhinitis (HP:0012384) | 2.27436573 |
| 43 | Tubulointerstitial abnormality (HP:0001969) | 2.24295141 |
| 44 | Thyroid-stimulating hormone excess (HP:0002925) | 2.23644769 |
| 45 | Optic disc pallor (HP:0000543) | 2.22471464 |
| 46 | Abnormal urine output (HP:0012590) | 2.19574319 |
| 47 | Cystic liver disease (HP:0006706) | 2.19119970 |
| 48 | Tetany (HP:0001281) | 2.18135911 |
| 49 | Abnormality of the ileum (HP:0001549) | 2.17812476 |
| 50 | Congenital sensorineural hearing impairment (HP:0008527) | 2.17778610 |
| 51 | Meckel diverticulum (HP:0002245) | 2.17154135 |
| 52 | Astigmatism (HP:0000483) | 2.16708664 |
| 53 | Hemiplegia (HP:0002301) | 2.15466413 |
| 54 | IgG deficiency (HP:0004315) | 2.14142518 |
| 55 | Increased IgM level (HP:0003496) | 2.13973361 |
| 56 | Central scotoma (HP:0000603) | 2.13214783 |
| 57 | Confusion (HP:0001289) | 2.12919778 |
| 58 | Aplasia/Hypoplasia of the lens (HP:0008063) | 2.11446245 |
| 59 | Large for gestational age (HP:0001520) | 2.10039352 |
| 60 | Abnormal spermatogenesis (HP:0008669) | 2.09543677 |
| 61 | Hypothermia (HP:0002045) | 2.09154308 |
| 62 | Delayed CNS myelination (HP:0002188) | 2.06915507 |
| 63 | Congenital hepatic fibrosis (HP:0002612) | 2.06716382 |
| 64 | Prominent supraorbital ridges (HP:0000336) | 2.06563823 |
| 65 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.04774412 |
| 66 | Azoospermia (HP:0000027) | 2.03972115 |
| 67 | Inability to walk (HP:0002540) | 2.03701236 |
| 68 | Aplasia/hypoplasia of the uterus (HP:0008684) | 2.01411140 |
| 69 | Hypokalemic alkalosis (HP:0001949) | 1.98487749 |
| 70 | Abnormality of eosinophils (HP:0001879) | 1.98169980 |
| 71 | Scotoma (HP:0000575) | 1.94647038 |
| 72 | Enlarged epiphyses (HP:0010580) | 1.94498484 |
| 73 | Progressive cerebellar ataxia (HP:0002073) | 1.90297857 |
| 74 | Abolished electroretinogram (ERG) (HP:0000550) | 1.90281947 |
| 75 | Cerebellar dysplasia (HP:0007033) | 1.90272687 |
| 76 | Abnormal ciliary motility (HP:0012262) | 1.89748590 |
| 77 | Granulocytopenia (HP:0001913) | 1.89363746 |
| 78 | Colon cancer (HP:0003003) | 1.88835140 |
| 79 | Autoimmune thrombocytopenia (HP:0001973) | 1.88826662 |
| 80 | Abnormality of the prostate (HP:0008775) | 1.88521753 |
| 81 | Chronic hepatic failure (HP:0100626) | 1.87709846 |
| 82 | Clubbing of toes (HP:0100760) | 1.86885390 |
| 83 | Acute encephalopathy (HP:0006846) | 1.86184964 |
| 84 | Postaxial foot polydactyly (HP:0001830) | 1.85843474 |
| 85 | Renal cortical cysts (HP:0000803) | 1.85304812 |
| 86 | Abnormal drinking behavior (HP:0030082) | 1.85048076 |
| 87 | Polydipsia (HP:0001959) | 1.85048076 |
| 88 | Duplicated collecting system (HP:0000081) | 1.84739896 |
| 89 | Gaze-evoked nystagmus (HP:0000640) | 1.84724212 |
| 90 | Dyschromatopsia (HP:0007641) | 1.84683365 |
| 91 | Tubulointerstitial fibrosis (HP:0005576) | 1.82961467 |
| 92 | Metaphyseal dysplasia (HP:0100255) | 1.82247511 |
| 93 | Left ventricular hypertrophy (HP:0001712) | 1.82093942 |
| 94 | Photophobia (HP:0000613) | 1.81700574 |
| 95 | Hypoplastic ischia (HP:0003175) | 1.79689203 |
| 96 | Retinitis pigmentosa (HP:0000510) | 1.79329760 |
| 97 | Sclerocornea (HP:0000647) | 1.78461032 |
| 98 | Broad foot (HP:0001769) | 1.77960621 |
| 99 | Nephrotic syndrome (HP:0000100) | 1.77264722 |
| 100 | Type 2 muscle fiber atrophy (HP:0003554) | 1.75225488 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FRK | 5.21530200 |
| 2 | VRK2 | 3.81895767 |
| 3 | PLK4 | 3.74858025 |
| 4 | MAP4K2 | 3.21105455 |
| 5 | NUAK1 | 2.56236611 |
| 6 | TAF1 | 2.41809759 |
| 7 | MST4 | 2.36715051 |
| 8 | TAOK3 | 2.33330030 |
| 9 | PLK2 | 2.23220355 |
| 10 | STK16 | 2.22047371 |
| 11 | MAP3K12 | 2.20854967 |
| 12 | INSRR | 2.05073236 |
| 13 | BMPR1B | 1.95543246 |
| 14 | VRK1 | 1.88981386 |
| 15 | ADRBK2 | 1.86254861 |
| 16 | DDR2 | 1.82054558 |
| 17 | ZAK | 1.81385942 |
| 18 | GRK1 | 1.75442912 |
| 19 | TXK | 1.74791480 |
| 20 | TLK1 | 1.73159084 |
| 21 | OXSR1 | 1.57983265 |
| 22 | CDK19 | 1.57651075 |
| 23 | PIK3CG | 1.55294879 |
| 24 | MYLK | 1.48238344 |
| 25 | MAPK15 | 1.37519609 |
| 26 | CCNB1 | 1.24427534 |
| 27 | IKBKB | 1.24206449 |
| 28 | DAPK1 | 1.22320253 |
| 29 | CSNK1A1L | 1.21432614 |
| 30 | MAPKAPK5 | 1.18303119 |
| 31 | CSNK1G3 | 1.11896111 |
| 32 | DAPK2 | 1.11537970 |
| 33 | CSNK1G2 | 1.02632979 |
| 34 | FLT3 | 1.02593788 |
| 35 | TGFBR1 | 1.02541672 |
| 36 | BCR | 1.01915201 |
| 37 | GRK5 | 1.01623773 |
| 38 | MKNK1 | 1.01605636 |
| 39 | CSNK1G1 | 0.97607402 |
| 40 | ADRBK1 | 0.96558584 |
| 41 | MKNK2 | 0.95104353 |
| 42 | PLK3 | 0.95077591 |
| 43 | TIE1 | 0.94054059 |
| 44 | TEC | 0.89836951 |
| 45 | PRKAA2 | 0.84609587 |
| 46 | WNK3 | 0.84376158 |
| 47 | GRK7 | 0.84204582 |
| 48 | IRAK1 | 0.80780018 |
| 49 | PRKCE | 0.80606258 |
| 50 | TRIM28 | 0.80055201 |
| 51 | PRKCG | 0.75655089 |
| 52 | ITK | 0.74238365 |
| 53 | KDR | 0.70028378 |
| 54 | EPHA4 | 0.69215834 |
| 55 | EIF2AK3 | 0.68385968 |
| 56 | KIT | 0.68326851 |
| 57 | CDK8 | 0.64770039 |
| 58 | EIF2AK1 | 0.63950421 |
| 59 | NEK6 | 0.63354259 |
| 60 | DYRK2 | 0.62906262 |
| 61 | MAPKAPK3 | 0.61532973 |
| 62 | STK38L | 0.60978195 |
| 63 | DAPK3 | 0.60336661 |
| 64 | STK39 | 0.59624077 |
| 65 | ERBB3 | 0.54504700 |
| 66 | CHUK | 0.53600013 |
| 67 | PDK2 | 0.52194834 |
| 68 | PAK3 | 0.51491861 |
| 69 | PRKG1 | 0.51195100 |
| 70 | CSNK1A1 | 0.49841401 |
| 71 | BMPR2 | 0.49420307 |
| 72 | IKBKE | 0.48998601 |
| 73 | SRPK1 | 0.48690150 |
| 74 | BTK | 0.47795034 |
| 75 | PAK6 | 0.46407199 |
| 76 | MAP4K1 | 0.46388723 |
| 77 | BLK | 0.43488535 |
| 78 | EIF2AK2 | 0.41426091 |
| 79 | TSSK6 | 0.40051122 |
| 80 | WNK4 | 0.39963773 |
| 81 | IGF1R | 0.38949594 |
| 82 | PINK1 | 0.38334179 |
| 83 | MUSK | 0.38112364 |
| 84 | TESK1 | 0.38075527 |
| 85 | SYK | 0.37932374 |
| 86 | CAMK2A | 0.35701317 |
| 87 | BRD4 | 0.35543060 |
| 88 | FGFR2 | 0.35370467 |
| 89 | FER | 0.34346253 |
| 90 | ACVR1B | 0.33757266 |
| 91 | LYN | 0.32295078 |
| 92 | PRKCA | 0.31199741 |
| 93 | MAPK13 | 0.30961610 |
| 94 | JAK3 | 0.30637606 |
| 95 | NME1 | 0.30556072 |
| 96 | PTK2B | 0.29617069 |
| 97 | PDK1 | 0.29531567 |
| 98 | PHKG1 | 0.29274203 |
| 99 | PHKG2 | 0.29274203 |
| 100 | BRSK2 | 0.29185311 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.42970403 |
| 2 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.56353269 |
| 3 | Proteasome_Homo sapiens_hsa03050 | 2.43724610 |
| 4 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.37928563 |
| 5 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 2.31548848 |
| 6 | Homologous recombination_Homo sapiens_hsa03440 | 1.98866554 |
| 7 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.95748526 |
| 8 | Protein export_Homo sapiens_hsa03060 | 1.92355853 |
| 9 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.84394164 |
| 10 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.82899381 |
| 11 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.82369267 |
| 12 | Parkinsons disease_Homo sapiens_hsa05012 | 1.81207727 |
| 13 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.80038121 |
| 14 | Allograft rejection_Homo sapiens_hsa05330 | 1.78816944 |
| 15 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 1.78636801 |
| 16 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.78575623 |
| 17 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.76712107 |
| 18 | Taste transduction_Homo sapiens_hsa04742 | 1.73912331 |
| 19 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.70074486 |
| 20 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.68576272 |
| 21 | Olfactory transduction_Homo sapiens_hsa04740 | 1.67548988 |
| 22 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.66162149 |
| 23 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.65462106 |
| 24 | Primary immunodeficiency_Homo sapiens_hsa05340 | 1.63531236 |
| 25 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.59624286 |
| 26 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.58850437 |
| 27 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.55825260 |
| 28 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.55742766 |
| 29 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.53499296 |
| 30 | Phototransduction_Homo sapiens_hsa04744 | 1.51879180 |
| 31 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.49892888 |
| 32 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.45244981 |
| 33 | Huntingtons disease_Homo sapiens_hsa05016 | 1.40154703 |
| 34 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.36392299 |
| 35 | Mismatch repair_Homo sapiens_hsa03430 | 1.27246220 |
| 36 | Basal transcription factors_Homo sapiens_hsa03022 | 1.23915416 |
| 37 | RNA degradation_Homo sapiens_hsa03018 | 1.23492647 |
| 38 | Asthma_Homo sapiens_hsa05310 | 1.22635851 |
| 39 | Peroxisome_Homo sapiens_hsa04146 | 1.17407384 |
| 40 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.10770786 |
| 41 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.10356513 |
| 42 | Nicotine addiction_Homo sapiens_hsa05033 | 1.09430419 |
| 43 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.07905973 |
| 44 | Mineral absorption_Homo sapiens_hsa04978 | 1.06161287 |
| 45 | Alzheimers disease_Homo sapiens_hsa05010 | 1.05712471 |
| 46 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.05182439 |
| 47 | RNA polymerase_Homo sapiens_hsa03020 | 0.98233138 |
| 48 | Ribosome_Homo sapiens_hsa03010 | 0.97790738 |
| 49 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.97584112 |
| 50 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.96126988 |
| 51 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.95305096 |
| 52 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.93081972 |
| 53 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.93006027 |
| 54 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.91197679 |
| 55 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.89310372 |
| 56 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.88885480 |
| 57 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.88371474 |
| 58 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.87995318 |
| 59 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.82178786 |
| 60 | RNA transport_Homo sapiens_hsa03013 | 0.81948583 |
| 61 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.80565766 |
| 62 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.78969558 |
| 63 | Purine metabolism_Homo sapiens_hsa00230 | 0.78760981 |
| 64 | ABC transporters_Homo sapiens_hsa02010 | 0.77560162 |
| 65 | Retinol metabolism_Homo sapiens_hsa00830 | 0.77233274 |
| 66 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.74579277 |
| 67 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.74064706 |
| 68 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.73077563 |
| 69 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.72765032 |
| 70 | Histidine metabolism_Homo sapiens_hsa00340 | 0.68388797 |
| 71 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.67958615 |
| 72 | Base excision repair_Homo sapiens_hsa03410 | 0.67888636 |
| 73 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.67399794 |
| 74 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.67006673 |
| 75 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.65070180 |
| 76 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.64071623 |
| 77 | Salivary secretion_Homo sapiens_hsa04970 | 0.62314345 |
| 78 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.62150545 |
| 79 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.58741100 |
| 80 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.55411235 |
| 81 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.53285013 |
| 82 | Morphine addiction_Homo sapiens_hsa05032 | 0.52357483 |
| 83 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.50218728 |
| 84 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.50082583 |
| 85 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.50054325 |
| 86 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.49746740 |
| 87 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.49444758 |
| 88 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.48410690 |
| 89 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.47743890 |
| 90 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.47248379 |
| 91 | Metabolic pathways_Homo sapiens_hsa01100 | 0.46482599 |
| 92 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.44954294 |
| 93 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.43631279 |
| 94 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.41344012 |
| 95 | Spliceosome_Homo sapiens_hsa03040 | 0.41124967 |
| 96 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.39514030 |
| 97 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.39154521 |
| 98 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.38428287 |
| 99 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.37972606 |
| 100 | Renin secretion_Homo sapiens_hsa04924 | 0.35141936 |

