

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | maintenance of gastrointestinal epithelium (GO:0030277) | 9.07412880 |
| 2 | response to vitamin A (GO:0033189) | 8.96843115 |
| 3 | epithelial structure maintenance (GO:0010669) | 7.08570069 |
| 4 | potassium ion export (GO:0071435) | 6.91687225 |
| 5 | cellular response to epidermal growth factor stimulus (GO:0071364) | 6.90119499 |
| 6 | response to epidermal growth factor (GO:0070849) | 6.30808930 |
| 7 | membrane repolarization during cardiac muscle cell action potential (GO:0086013) | 5.33486870 |
| 8 | membrane repolarization (GO:0086009) | 5.24632203 |
| 9 | nephron tubule morphogenesis (GO:0072078) | 5.20447289 |
| 10 | nephron epithelium morphogenesis (GO:0072088) | 5.20447289 |
| 11 | O-glycan processing (GO:0016266) | 4.93187779 |
| 12 | membrane repolarization during action potential (GO:0086011) | 4.91169342 |
| 13 | meiotic chromosome segregation (GO:0045132) | 4.88950875 |
| 14 | DNA methylation involved in gamete generation (GO:0043046) | 4.87743909 |
| 15 | creatine metabolic process (GO:0006600) | 4.47545378 |
| 16 | DNA replication initiation (GO:0006270) | 4.28266514 |
| 17 | regulation of ARF GTPase activity (GO:0032312) | 4.25709422 |
| 18 | DNA replication checkpoint (GO:0000076) | 4.09210915 |
| 19 | regulation of translational fidelity (GO:0006450) | 4.06058085 |
| 20 | regulation of histone H3-K4 methylation (GO:0051569) | 4.04442229 |
| 21 | rRNA catabolic process (GO:0016075) | 4.03493480 |
| 22 | piRNA metabolic process (GO:0034587) | 4.00345719 |
| 23 | positive regulation of sodium ion transmembrane transporter activity (GO:2000651) | 4.00054923 |
| 24 | synapsis (GO:0007129) | 3.99257092 |
| 25 | cellular response to glucocorticoid stimulus (GO:0071385) | 3.99120561 |
| 26 | nuclear pore complex assembly (GO:0051292) | 3.96599224 |
| 27 | negative regulation of digestive system process (GO:0060457) | 3.88233318 |
| 28 | renal tubule morphogenesis (GO:0061333) | 3.63135836 |
| 29 | C21-steroid hormone biosynthetic process (GO:0006700) | 3.61941585 |
| 30 | cellular response to corticosteroid stimulus (GO:0071384) | 3.60231832 |
| 31 | regulation of RNA export from nucleus (GO:0046831) | 3.56371205 |
| 32 | positive regulation of histone deacetylation (GO:0031065) | 3.42427975 |
| 33 | resolution of meiotic recombination intermediates (GO:0000712) | 3.40234300 |
| 34 | protein O-linked glycosylation (GO:0006493) | 3.37656699 |
| 35 | chromatin assembly (GO:0031497) | 3.36579322 |
| 36 | nuclear pore organization (GO:0006999) | 3.36121785 |
| 37 | DNA damage induced protein phosphorylation (GO:0006975) | 3.33178680 |
| 38 | positive regulation by host of viral transcription (GO:0043923) | 3.31620309 |
| 39 | male meiosis (GO:0007140) | 3.25150188 |
| 40 | mitotic sister chromatid segregation (GO:0000070) | 3.23804980 |
| 41 | hindbrain development (GO:0030902) | 3.21716096 |
| 42 | mitotic nuclear envelope disassembly (GO:0007077) | 3.18379847 |
| 43 | vocalization behavior (GO:0071625) | 3.10144380 |
| 44 | regulation of histone methylation (GO:0031060) | 3.07142629 |
| 45 | DNA unwinding involved in DNA replication (GO:0006268) | 3.06444202 |
| 46 | trivalent inorganic anion homeostasis (GO:0072506) | 3.05800717 |
| 47 | phosphate ion homeostasis (GO:0055062) | 3.05800717 |
| 48 | vitamin A metabolic process (GO:0006776) | 3.05356982 |
| 49 | chromosome organization involved in meiosis (GO:0070192) | 3.02598684 |
| 50 | regulation of histone H3-K27 methylation (GO:0061085) | 3.01414167 |
| 51 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 3.00140498 |
| 52 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 3.00140498 |
| 53 | formation of translation preinitiation complex (GO:0001731) | 2.99164566 |
| 54 | sister chromatid segregation (GO:0000819) | 2.97639774 |
| 55 | intra-S DNA damage checkpoint (GO:0031573) | 2.97290009 |
| 56 | negative regulation of retinoic acid receptor signaling pathway (GO:0048387) | 2.95671024 |
| 57 | striated muscle atrophy (GO:0014891) | 2.92718584 |
| 58 | regulation of nucleobase-containing compound transport (GO:0032239) | 2.92528790 |
| 59 | negative regulation of histone methylation (GO:0031061) | 2.89882828 |
| 60 | DNA topological change (GO:0006265) | 2.88823131 |
| 61 | glucocorticoid biosynthetic process (GO:0006704) | 2.88176498 |
| 62 | negative regulation of potassium ion transmembrane transport (GO:1901380) | 2.87697078 |
| 63 | urinary tract smooth muscle contraction (GO:0014848) | 2.87684460 |
| 64 | DNA methylation (GO:0006306) | 2.87185253 |
| 65 | DNA alkylation (GO:0006305) | 2.87185253 |
| 66 | chromosome condensation (GO:0030261) | 2.86693928 |
| 67 | nuclear envelope disassembly (GO:0051081) | 2.86304757 |
| 68 | membrane disassembly (GO:0030397) | 2.86304757 |
| 69 | protein-DNA complex disassembly (GO:0032986) | 2.85330090 |
| 70 | nucleosome disassembly (GO:0006337) | 2.85330090 |
| 71 | histone H3-K9 demethylation (GO:0033169) | 2.84832409 |
| 72 | DNA strand renaturation (GO:0000733) | 2.83576568 |
| 73 | mismatch repair (GO:0006298) | 2.82865658 |
| 74 | motile cilium assembly (GO:0044458) | 2.82831646 |
| 75 | cellular response to retinoic acid (GO:0071300) | 2.82459131 |
| 76 | digestive system process (GO:0022600) | 2.80469984 |
| 77 | positive regulation of gene expression, epigenetic (GO:0045815) | 2.79651781 |
| 78 | DNA synthesis involved in DNA repair (GO:0000731) | 2.78294935 |
| 79 | replicative senescence (GO:0090399) | 2.76812526 |
| 80 | membrane depolarization during action potential (GO:0086010) | 2.75384171 |
| 81 | growth hormone secretion (GO:0030252) | 2.74017320 |
| 82 | regulation of histone deacetylation (GO:0031063) | 2.72230292 |
| 83 | protein targeting to Golgi (GO:0000042) | 2.69792945 |
| 84 | muscle atrophy (GO:0014889) | 2.69351063 |
| 85 | cellular anion homeostasis (GO:0030002) | 2.69058185 |
| 86 | homocysteine metabolic process (GO:0050667) | 2.68885994 |
| 87 | spliceosomal tri-snRNP complex assembly (GO:0000244) | 2.68534876 |
| 88 | cysteine metabolic process (GO:0006534) | 2.67464104 |
| 89 | skeletal muscle adaptation (GO:0043501) | 2.66700894 |
| 90 | glucocorticoid receptor signaling pathway (GO:0042921) | 2.64307934 |
| 91 | positive regulation of sodium ion transmembrane transport (GO:1902307) | 2.63214571 |
| 92 | neural tube development (GO:0021915) | 2.60610239 |
| 93 | DNA packaging (GO:0006323) | 2.60353307 |
| 94 | epithelial cell fate commitment (GO:0072148) | 2.59491376 |
| 95 | pore complex assembly (GO:0046931) | 2.59264412 |
| 96 | DNA conformation change (GO:0071103) | 2.59181338 |
| 97 | cilium or flagellum-dependent cell motility (GO:0001539) | 2.59021959 |
| 98 | proline biosynthetic process (GO:0006561) | 2.57779259 |
| 99 | establishment of protein localization to Golgi (GO:0072600) | 2.56292968 |
| 100 | regulation of G0 to G1 transition (GO:0070316) | 11.8297171 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E2F7_22180533_ChIP-Seq_HELA_Human | 7.33506772 |
| 2 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 6.25014036 |
| 3 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 4.29703580 |
| 4 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 3.45136576 |
| 5 | DROSHA_22980978_ChIP-Seq_HELA_Human | 3.20434354 |
| 6 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 2.75337347 |
| 7 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.73437017 |
| 8 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 2.49560415 |
| 9 | GATA1_19941826_ChIP-Seq_K562_Human | 2.25529619 |
| 10 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 2.24890701 |
| 11 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.15660357 |
| 12 | NCOR1_26117541_ChIP-Seq_K562_Human | 2.06719237 |
| 13 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.02627988 |
| 14 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.92614001 |
| 15 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.88082777 |
| 16 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.85663338 |
| 17 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.84566634 |
| 18 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.80250307 |
| 19 | VDR_22108803_ChIP-Seq_LS180_Human | 1.78536461 |
| 20 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.76277989 |
| 21 | P68_20966046_ChIP-Seq_HELA_Human | 1.72919870 |
| 22 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.72765801 |
| 23 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.71592963 |
| 24 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.71516869 |
| 25 | SPI1_23127762_ChIP-Seq_K562_Human | 1.59666521 |
| 26 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.59441862 |
| 27 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.58867184 |
| 28 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.49679120 |
| 29 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.49148565 |
| 30 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.45192604 |
| 31 | NFYA_21822215_ChIP-Seq_K562_Human | 1.44897281 |
| 32 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.44026107 |
| 33 | GATA2_19941826_ChIP-Seq_K562_Human | 1.43525344 |
| 34 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.39064123 |
| 35 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.38722176 |
| 36 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.38625301 |
| 37 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.38292203 |
| 38 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.37915371 |
| 39 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.37756478 |
| 40 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.36908493 |
| 41 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.34893186 |
| 42 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.32962860 |
| 43 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.32962315 |
| 44 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.32856732 |
| 45 | TFAP2A_17053090_ChIP-ChIP_MCF-7_Human | 1.32325084 |
| 46 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.31833572 |
| 47 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 1.30299775 |
| 48 | MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human | 1.30207046 |
| 49 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.28573588 |
| 50 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.26759784 |
| 51 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.26663824 |
| 52 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.25709923 |
| 53 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.25628655 |
| 54 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.25406935 |
| 55 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.23972211 |
| 56 | NFYB_21822215_ChIP-Seq_K562_Human | 1.23859387 |
| 57 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.20792763 |
| 58 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.19631143 |
| 59 | SA1_27219007_Chip-Seq_Bcells_Human | 1.19029492 |
| 60 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.18977686 |
| 61 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.15040396 |
| 62 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.14948317 |
| 63 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.11190200 |
| 64 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.10824436 |
| 65 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.09363420 |
| 66 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.09349262 |
| 67 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.09241543 |
| 68 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.08902894 |
| 69 | OCT4_19829295_ChIP-Seq_ESCs_Human | 1.05824096 |
| 70 | ERA_21632823_ChIP-Seq_H3396_Human | 1.05295491 |
| 71 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.05253810 |
| 72 | STAT3_19079543_ChIP-ChIP_MESCs_Mouse | 1.05162202 |
| 73 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 1.04570243 |
| 74 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.03539656 |
| 75 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.03537610 |
| 76 | RACK7_27058665_Chip-Seq_MCF-7_Human | 1.02939040 |
| 77 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.02291552 |
| 78 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.02218004 |
| 79 | EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 1.02134947 |
| 80 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.02048895 |
| 81 | TBL1_22424771_ChIP-Seq_293T_Human | 1.01098448 |
| 82 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.00114291 |
| 83 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 0.98869869 |
| 84 | P300_27268052_Chip-Seq_Bcells_Human | 0.97675287 |
| 85 | GBX2_23144817_ChIP-Seq_PC3_Human | 0.96898865 |
| 86 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 0.96827407 |
| 87 | GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.96350972 |
| 88 | CREB1_26743006_Chip-Seq_LNCaP_Human | 0.94946531 |
| 89 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 0.94129249 |
| 90 | LXR_22292898_ChIP-Seq_THP-1_Human | 0.93907107 |
| 91 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 0.93743979 |
| 92 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 0.91596136 |
| 93 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 0.90185806 |
| 94 | GATA6_25053715_ChIP-Seq_YYC3_Human | 0.88405752 |
| 95 | MYC_18940864_ChIP-ChIP_HL60_Human | 0.88005861 |
| 96 | P53_21459846_ChIP-Seq_SAOS-2_Human | 0.86365595 |
| 97 | CTCF_27219007_Chip-Seq_ERYTHROID_Human | 0.85403856 |
| 98 | TAF2_19829295_ChIP-Seq_ESCs_Human | 0.85045860 |
| 99 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 0.84495504 |
| 100 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 0.84164788 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003136_yellow_coat_color | 4.90581147 |
| 2 | MP0004043_abnormal_pH_regulation | 3.49747596 |
| 3 | MP0008995_early_reproductive_senescence | 3.29040204 |
| 4 | MP0000566_synostosis | 3.20873615 |
| 5 | MP0003879_abnormal_hair_cell | 3.16336814 |
| 6 | MP0000579_abnormal_nail_morphology | 2.92818237 |
| 7 | MP0003705_abnormal_hypodermis_morpholog | 2.91372723 |
| 8 | MP0004145_abnormal_muscle_electrophysio | 2.90642732 |
| 9 | MP0002249_abnormal_larynx_morphology | 2.87235498 |
| 10 | MP0004147_increased_porphyrin_level | 2.81581575 |
| 11 | MP0000465_gastrointestinal_hemorrhage | 2.67350442 |
| 12 | MP0010094_abnormal_chromosome_stability | 2.55323630 |
| 13 | MP0005171_absent_coat_pigmentation | 2.51726384 |
| 14 | MP0008058_abnormal_DNA_repair | 2.43597831 |
| 15 | MP0003111_abnormal_nucleus_morphology | 2.39535943 |
| 16 | MP0005083_abnormal_biliary_tract | 2.27034297 |
| 17 | MP0003693_abnormal_embryo_hatching | 2.19396824 |
| 18 | MP0001661_extended_life_span | 2.16368699 |
| 19 | MP0000678_abnormal_parathyroid_gland | 2.15052883 |
| 20 | MP0003786_premature_aging | 2.10441017 |
| 21 | MP0001666_abnormal_nutrient_absorption | 1.76708704 |
| 22 | MP0009697_abnormal_copulation | 1.76225438 |
| 23 | MP0002210_abnormal_sex_determination | 1.68451791 |
| 24 | MP0005275_abnormal_skin_tensile | 1.60113182 |
| 25 | MP0005220_abnormal_exocrine_pancreas | 1.58274402 |
| 26 | MP0008438_abnormal_cutaneous_collagen | 1.54545338 |
| 27 | MP0001664_abnormal_digestion | 1.42048755 |
| 28 | MP0000647_abnormal_sebaceous_gland | 1.39696329 |
| 29 | MP0003959_abnormal_lean_body | 1.39606768 |
| 30 | MP0003698_abnormal_male_reproductive | 1.37256764 |
| 31 | MP0004957_abnormal_blastocyst_morpholog | 1.36982395 |
| 32 | MP0001485_abnormal_pinna_reflex | 1.35622142 |
| 33 | MP0001929_abnormal_gametogenesis | 1.34747042 |
| 34 | MP0008932_abnormal_embryonic_tissue | 1.30676905 |
| 35 | MP0010030_abnormal_orbit_morphology | 1.26110640 |
| 36 | MP0005503_abnormal_tendon_morphology | 1.24007206 |
| 37 | MP0001663_abnormal_digestive_system | 1.23990542 |
| 38 | MP0002269_muscular_atrophy | 1.23731502 |
| 39 | MP0009840_abnormal_foam_cell | 1.21725833 |
| 40 | MP0005377_hearing/vestibular/ear_phenot | 1.21705421 |
| 41 | MP0003878_abnormal_ear_physiology | 1.21705421 |
| 42 | MP0002653_abnormal_ependyma_morphology | 1.20933548 |
| 43 | MP0000026_abnormal_inner_ear | 1.20822433 |
| 44 | MP0001765_abnormal_ion_homeostasis | 1.19403016 |
| 45 | MP0000749_muscle_degeneration | 1.19269206 |
| 46 | MP0008007_abnormal_cellular_replicative | 1.16102559 |
| 47 | MP0004233_abnormal_muscle_weight | 1.15126269 |
| 48 | MP0004019_abnormal_vitamin_homeostasis | 1.14794095 |
| 49 | MP0000427_abnormal_hair_cycle | 1.14215680 |
| 50 | MP0009278_abnormal_bone_marrow | 1.13604789 |
| 51 | MP0005381_digestive/alimentary_phenotyp | 1.12614701 |
| 52 | MP0002138_abnormal_hepatobiliary_system | 1.11240228 |
| 53 | MP0001730_embryonic_growth_arrest | 1.10965492 |
| 54 | MP0001243_abnormal_dermal_layer | 1.08091113 |
| 55 | MP0008877_abnormal_DNA_methylation | 1.02925383 |
| 56 | MP0010307_abnormal_tumor_latency | 1.00459077 |
| 57 | MP0003866_abnormal_defecation | 1.00304592 |
| 58 | MP0003385_abnormal_body_wall | 0.98616143 |
| 59 | MP0000747_muscle_weakness | 0.95871556 |
| 60 | MP0004742_abnormal_vestibular_system | 0.95186804 |
| 61 | MP0002928_abnormal_bile_duct | 0.95181150 |
| 62 | MP0001145_abnormal_male_reproductive | 0.94068155 |
| 63 | MP0005076_abnormal_cell_differentiation | 0.92705051 |
| 64 | MP0001963_abnormal_hearing_physiology | 0.91045592 |
| 65 | MP0002160_abnormal_reproductive_system | 0.90763095 |
| 66 | MP0003943_abnormal_hepatobiliary_system | 0.89810563 |
| 67 | MP0002282_abnormal_trachea_morphology | 0.89078034 |
| 68 | MP0000653_abnormal_sex_gland | 0.88554482 |
| 69 | MP0002095_abnormal_skin_pigmentation | 0.88010060 |
| 70 | MP0003077_abnormal_cell_cycle | 0.87153945 |
| 71 | MP0003045_fibrosis | 0.83670530 |
| 72 | MP0003950_abnormal_plasma_membrane | 0.82540033 |
| 73 | MP0000350_abnormal_cell_proliferation | 0.82067968 |
| 74 | MP0000428_abnormal_craniofacial_morphol | 0.81193615 |
| 75 | MP0000631_abnormal_neuroendocrine_gland | 0.78449356 |
| 76 | MP0005410_abnormal_fertilization | 0.77662802 |
| 77 | MP0002161_abnormal_fertility/fecundity | 0.76789332 |
| 78 | MP0002084_abnormal_developmental_patter | 0.76323303 |
| 79 | MP0002085_abnormal_embryonic_tissue | 0.73689260 |
| 80 | MP0003937_abnormal_limbs/digits/tail_de | 0.73637220 |
| 81 | MP0002822_catalepsy | 0.72629872 |
| 82 | MP0005636_abnormal_mineral_homeostasis | 0.72541346 |
| 83 | MP0001672_abnormal_embryogenesis/_devel | 0.72302230 |
| 84 | MP0005380_embryogenesis_phenotype | 0.72302230 |
| 85 | MP0003656_abnormal_erythrocyte_physiolo | 0.71580918 |
| 86 | MP0009703_decreased_birth_body | 0.71223241 |
| 87 | MP0000049_abnormal_middle_ear | 0.70520588 |
| 88 | MP0009672_abnormal_birth_weight | 0.70329848 |
| 89 | MP0003699_abnormal_female_reproductive | 0.69228257 |
| 90 | MP0003984_embryonic_growth_retardation | 0.69072634 |
| 91 | MP0003646_muscle_fatigue | 0.67113397 |
| 92 | MP0003718_maternal_effect | 0.66895848 |
| 93 | MP0005332_abnormal_amino_acid | 0.65999390 |
| 94 | MP0001270_distended_abdomen | 0.65982229 |
| 95 | MP0003935_abnormal_craniofacial_develop | 0.65275432 |
| 96 | MP0002088_abnormal_embryonic_growth/wei | 0.64467242 |
| 97 | MP0009250_abnormal_appendicular_skeleto | 0.63703288 |
| 98 | MP0002080_prenatal_lethality | 0.63448146 |
| 99 | MP0002111_abnormal_tail_morphology | 0.63273536 |
| 100 | MP0002114_abnormal_axial_skeleton | 0.62008402 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Pili torti (HP:0003777) | 4.36282378 |
| 2 | Thin bony cortex (HP:0002753) | 4.15080412 |
| 3 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 4.12409017 |
| 4 | Reticulocytosis (HP:0001923) | 3.88184694 |
| 5 | Chromsome breakage (HP:0040012) | 3.86838556 |
| 6 | Mask-like facies (HP:0000298) | 3.84559815 |
| 7 | Abnormality of dentin (HP:0010299) | 3.83057162 |
| 8 | Enlarged epiphyses (HP:0010580) | 3.82473699 |
| 9 | Abnormality of reticulocytes (HP:0004312) | 3.73075121 |
| 10 | Delayed epiphyseal ossification (HP:0002663) | 3.70309168 |
| 11 | Duplicated collecting system (HP:0000081) | 3.68077543 |
| 12 | Abnormal gallbladder physiology (HP:0012438) | 3.54492743 |
| 13 | Cholecystitis (HP:0001082) | 3.54492743 |
| 14 | Abnormality of DNA repair (HP:0003254) | 3.49249015 |
| 15 | Abnormal hair laboratory examination (HP:0003328) | 3.48548594 |
| 16 | Birth length less than 3rd percentile (HP:0003561) | 3.45140848 |
| 17 | Reticulocytopenia (HP:0001896) | 3.41177133 |
| 18 | Truncus arteriosus (HP:0001660) | 3.20766956 |
| 19 | Ankyloglossia (HP:0010296) | 3.17935218 |
| 20 | Hyperacusis (HP:0010780) | 3.15127006 |
| 21 | Abnormality of cochlea (HP:0000375) | 3.14263186 |
| 22 | Abnormality of the renal collecting system (HP:0004742) | 3.13244316 |
| 23 | Flat cornea (HP:0007720) | 3.10762277 |
| 24 | Palpebral edema (HP:0100540) | 3.06525608 |
| 25 | Hypophosphatemic rickets (HP:0004912) | 3.02257603 |
| 26 | Hyperkalemia (HP:0002153) | 3.01738994 |
| 27 | Distal upper limb amyotrophy (HP:0007149) | 2.96967959 |
| 28 | Upper limb amyotrophy (HP:0009129) | 2.96967959 |
| 29 | Hemorrhage of the eye (HP:0011885) | 2.85113504 |
| 30 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.84440884 |
| 31 | Urethral obstruction (HP:0000796) | 2.83663537 |
| 32 | Ureteral duplication (HP:0000073) | 2.78639624 |
| 33 | Abnormality of the carotid arteries (HP:0005344) | 2.78195765 |
| 34 | Ectopic kidney (HP:0000086) | 2.67119069 |
| 35 | Abnormality of chloride homeostasis (HP:0011422) | 2.65062672 |
| 36 | Duplication of thumb phalanx (HP:0009942) | 2.64852859 |
| 37 | Tibial bowing (HP:0002982) | 2.60873556 |
| 38 | Congenital sensorineural hearing impairment (HP:0008527) | 2.51226658 |
| 39 | Insomnia (HP:0100785) | 2.38285413 |
| 40 | Upper limb muscle weakness (HP:0003484) | 2.37072048 |
| 41 | Premature skin wrinkling (HP:0100678) | 2.36678453 |
| 42 | Distal lower limb amyotrophy (HP:0008944) | 2.35374941 |
| 43 | Abnormal number of erythroid precursors (HP:0012131) | 2.35295804 |
| 44 | Concave nail (HP:0001598) | 2.35052555 |
| 45 | Partial agenesis of the corpus callosum (HP:0001338) | 2.33891284 |
| 46 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.31676414 |
| 47 | Abnormality of the costochondral junction (HP:0000919) | 2.27577146 |
| 48 | Abnormal trabecular bone morphology (HP:0100671) | 2.27452500 |
| 49 | Abnormality of the preputium (HP:0100587) | 2.26534277 |
| 50 | Tracheomalacia (HP:0002779) | 2.21454614 |
| 51 | Increased connective tissue (HP:0009025) | 2.21212898 |
| 52 | Bowel incontinence (HP:0002607) | 2.17518665 |
| 53 | Abnormality of pyrimidine metabolism (HP:0004353) | 2.16697086 |
| 54 | Progressive cerebellar ataxia (HP:0002073) | 2.14181772 |
| 55 | Hand muscle atrophy (HP:0009130) | 2.12671833 |
| 56 | Abnormality of the diencephalon (HP:0010662) | 2.11535929 |
| 57 | Morphological abnormality of the inner ear (HP:0011390) | 2.10967840 |
| 58 | Bladder diverticulum (HP:0000015) | 2.10794023 |
| 59 | Atelectasis (HP:0100750) | 2.10489534 |
| 60 | Nonimmune hydrops fetalis (HP:0001790) | 2.09988909 |
| 61 | Abnormal large intestine physiology (HP:0012700) | 2.07281565 |
| 62 | Natal tooth (HP:0000695) | 2.06784936 |
| 63 | Horizontal nystagmus (HP:0000666) | 2.06568579 |
| 64 | Self-mutilation (HP:0000742) | 2.05943593 |
| 65 | Abnormality of cells of the erythroid lineage (HP:0012130) | 2.04869580 |
| 66 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.02946770 |
| 67 | Decreased number of large peripheral myelinated nerve fibers (HP:0003387) | 2.00600261 |
| 68 | Renovascular hypertension (HP:0100817) | 2.00353265 |
| 69 | Cystic liver disease (HP:0006706) | 2.00107433 |
| 70 | Tinnitus (HP:0000360) | 2.00032350 |
| 71 | Mildly elevated creatine phosphokinase (HP:0008180) | 1.96872489 |
| 72 | Meckel diverticulum (HP:0002245) | 1.96561466 |
| 73 | Abnormality of the fingertips (HP:0001211) | 1.93371703 |
| 74 | Patent foramen ovale (HP:0001655) | 1.92989375 |
| 75 | Duodenal stenosis (HP:0100867) | 1.90958700 |
| 76 | Small intestinal stenosis (HP:0012848) | 1.90958700 |
| 77 | Abnormality of the ileum (HP:0001549) | 1.90028095 |
| 78 | Abnormality of oral frenula (HP:0000190) | 1.89396421 |
| 79 | Polycystic kidney dysplasia (HP:0000113) | 1.88233670 |
| 80 | Elfin facies (HP:0004428) | 1.86582145 |
| 81 | Abnormality of chromosome stability (HP:0003220) | 1.85839272 |
| 82 | Abnormality of the aortic arch (HP:0012303) | 1.84940578 |
| 83 | Bronchomalacia (HP:0002780) | 1.84131611 |
| 84 | Widely patent fontanelles and sutures (HP:0004492) | 1.83950113 |
| 85 | Poikilocytosis (HP:0004447) | 1.83047825 |
| 86 | Disproportionate tall stature (HP:0001519) | 1.82610568 |
| 87 | Renal duplication (HP:0000075) | 1.81914632 |
| 88 | Short nail (HP:0001799) | 1.81337691 |
| 89 | Rib fusion (HP:0000902) | 1.80470089 |
| 90 | Long eyelashes (HP:0000527) | 1.79121799 |
| 91 | Hyperthyroidism (HP:0000836) | 1.78428734 |
| 92 | Hypoplastic iliac wings (HP:0002866) | 1.76965558 |
| 93 | Diaphragmatic weakness (HP:0009113) | 1.76476389 |
| 94 | Male infertility (HP:0003251) | 1.76380486 |
| 95 | Spinal muscular atrophy (HP:0007269) | 1.76366978 |
| 96 | Thin ribs (HP:0000883) | 1.75512297 |
| 97 | Sandal gap (HP:0001852) | 1.74710247 |
| 98 | High pitched voice (HP:0001620) | 1.74588874 |
| 99 | Bilateral sensorineural hearing impairment (HP:0008619) | 1.74518201 |
| 100 | Broad face (HP:0000283) | 1.73565037 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | WNK4 | 7.30293115 |
| 2 | MST1R | 5.47633220 |
| 3 | NME1 | 4.79622054 |
| 4 | PNCK | 4.05491133 |
| 5 | CDK12 | 3.36601328 |
| 6 | WNK1 | 3.15158473 |
| 7 | SMG1 | 2.54218279 |
| 8 | MAPK15 | 2.26632395 |
| 9 | TSSK6 | 2.16968637 |
| 10 | TTK | 2.14593479 |
| 11 | MET | 2.12215981 |
| 12 | WEE1 | 1.98805925 |
| 13 | NEK2 | 1.98585311 |
| 14 | MUSK | 1.97588018 |
| 15 | EEF2K | 1.75820142 |
| 16 | ICK | 1.66227484 |
| 17 | INSRR | 1.61763972 |
| 18 | TNIK | 1.55523219 |
| 19 | VRK2 | 1.53369942 |
| 20 | MAPKAPK5 | 1.51709246 |
| 21 | TRPM7 | 1.46770100 |
| 22 | TRIB3 | 1.43363856 |
| 23 | CLK1 | 1.39492789 |
| 24 | TAF1 | 1.38376220 |
| 25 | CASK | 1.34607624 |
| 26 | SIK2 | 1.18868120 |
| 27 | KSR2 | 1.18187985 |
| 28 | CDC7 | 1.06896590 |
| 29 | RIPK4 | 1.06574665 |
| 30 | MAP3K2 | 1.02868347 |
| 31 | ZAK | 1.00200646 |
| 32 | MAP3K7 | 0.99385100 |
| 33 | EIF2AK1 | 0.98347173 |
| 34 | BRD4 | 0.96634019 |
| 35 | MAP2K6 | 0.96515636 |
| 36 | PRKG2 | 0.92177898 |
| 37 | ATR | 0.84278528 |
| 38 | MAP3K8 | 0.83870956 |
| 39 | CHEK2 | 0.83515085 |
| 40 | ACVR1B | 0.80960331 |
| 41 | CDK9 | 0.80513766 |
| 42 | MTOR | 0.79623445 |
| 43 | VRK1 | 0.79031133 |
| 44 | NTRK3 | 0.74763697 |
| 45 | ERN1 | 0.71359045 |
| 46 | PLK4 | 0.65073990 |
| 47 | CAMK1G | 0.64408784 |
| 48 | CHEK1 | 0.62917812 |
| 49 | KSR1 | 0.60857767 |
| 50 | MAPKAPK3 | 0.60366498 |
| 51 | RET | 0.57660979 |
| 52 | PASK | 0.56479936 |
| 53 | STK3 | 0.54177231 |
| 54 | NTRK1 | 0.54015991 |
| 55 | MAP2K2 | 0.52878059 |
| 56 | CAMK1D | 0.50559071 |
| 57 | NUAK1 | 0.50437305 |
| 58 | PAK2 | 0.49579448 |
| 59 | MELK | 0.47502178 |
| 60 | CDK1 | 0.46850932 |
| 61 | PLK1 | 0.45160151 |
| 62 | CDK2 | 0.44142819 |
| 63 | CDK3 | 0.41433158 |
| 64 | SGK1 | 0.41098181 |
| 65 | ATM | 0.39921940 |
| 66 | BRAF | 0.39605122 |
| 67 | RPS6KB2 | 0.38675853 |
| 68 | CDK7 | 0.38551818 |
| 69 | PTK6 | 0.38535943 |
| 70 | ERBB2 | 0.38164748 |
| 71 | AKT1 | 0.38062347 |
| 72 | BLK | 0.37844888 |
| 73 | DDR2 | 0.37743272 |
| 74 | IRAK3 | 0.37659848 |
| 75 | CDK8 | 0.36482119 |
| 76 | SIK1 | 0.35106390 |
| 77 | STK39 | 0.34824783 |
| 78 | CCNB1 | 0.32706737 |
| 79 | HIPK2 | 0.32332474 |
| 80 | BMX | 0.32262889 |
| 81 | DYRK3 | 0.32208969 |
| 82 | MAP2K1 | 0.31747334 |
| 83 | RAF1 | 0.31605433 |
| 84 | PRKAA1 | 0.29620437 |
| 85 | TLK1 | 0.28075773 |
| 86 | PRKAA2 | 0.26733592 |
| 87 | PLK3 | 0.26676904 |
| 88 | CSNK1E | 0.26650426 |
| 89 | PRKDC | 0.25670899 |
| 90 | AKT2 | 0.23511641 |
| 91 | MAP3K4 | 0.23326155 |
| 92 | RPS6KA2 | 0.22875431 |
| 93 | CDK11A | 0.22042605 |
| 94 | GSK3B | 0.21707955 |
| 95 | PIK3CG | 0.21488830 |
| 96 | LRRK2 | 0.20953765 |
| 97 | MAPK14 | 0.20829005 |
| 98 | MAPK1 | 0.18114815 |
| 99 | MKNK1 | 0.18060761 |
| 100 | TYRO3 | 0.17826108 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 4.59418262 |
| 2 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 3.52941760 |
| 3 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 2.94925204 |
| 4 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.86439278 |
| 5 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.62158038 |
| 6 | DNA replication_Homo sapiens_hsa03030 | 2.61771156 |
| 7 | Homologous recombination_Homo sapiens_hsa03440 | 2.61472033 |
| 8 | One carbon pool by folate_Homo sapiens_hsa00670 | 2.54186242 |
| 9 | Mismatch repair_Homo sapiens_hsa03430 | 2.35424963 |
| 10 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.15991623 |
| 11 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 2.08932491 |
| 12 | RNA transport_Homo sapiens_hsa03013 | 1.94313725 |
| 13 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.93939477 |
| 14 | ABC transporters_Homo sapiens_hsa02010 | 1.92956759 |
| 15 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.83406483 |
| 16 | Olfactory transduction_Homo sapiens_hsa04740 | 1.82473122 |
| 17 | Lysine degradation_Homo sapiens_hsa00310 | 1.81639049 |
| 18 | Basal transcription factors_Homo sapiens_hsa03022 | 1.57637843 |
| 19 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.51624451 |
| 20 | Salivary secretion_Homo sapiens_hsa04970 | 1.51257885 |
| 21 | Spliceosome_Homo sapiens_hsa03040 | 1.51094161 |
| 22 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.44141140 |
| 23 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 1.36608295 |
| 24 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.33151930 |
| 25 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.26556213 |
| 26 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.23713308 |
| 27 | Taste transduction_Homo sapiens_hsa04742 | 1.20236582 |
| 28 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.18966297 |
| 29 | Cell cycle_Homo sapiens_hsa04110 | 1.18726691 |
| 30 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.14700484 |
| 31 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.13486242 |
| 32 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.08428073 |
| 33 | Sulfur relay system_Homo sapiens_hsa04122 | 0.99313271 |
| 34 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.98291582 |
| 35 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.98244164 |
| 36 | Base excision repair_Homo sapiens_hsa03410 | 0.96512918 |
| 37 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.92440605 |
| 38 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.92149833 |
| 39 | Thyroid cancer_Homo sapiens_hsa05216 | 0.92083820 |
| 40 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.91145897 |
| 41 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.90893108 |
| 42 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.90256282 |
| 43 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.89738733 |
| 44 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.87094862 |
| 45 | Amoebiasis_Homo sapiens_hsa05146 | 0.86939485 |
| 46 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.86608124 |
| 47 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.85756252 |
| 48 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.85298695 |
| 49 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.85297369 |
| 50 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.80322556 |
| 51 | Insulin secretion_Homo sapiens_hsa04911 | 0.80309815 |
| 52 | Carbon metabolism_Homo sapiens_hsa01200 | 0.79867609 |
| 53 | Nicotine addiction_Homo sapiens_hsa05033 | 0.78557273 |
| 54 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.76310324 |
| 55 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.75857543 |
| 56 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.75615150 |
| 57 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.73237443 |
| 58 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.72587125 |
| 59 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.72141053 |
| 60 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.66984429 |
| 61 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.66701412 |
| 62 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.65949180 |
| 63 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.63667784 |
| 64 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.63286030 |
| 65 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.62416757 |
| 66 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.59946458 |
| 67 | Purine metabolism_Homo sapiens_hsa00230 | 0.58974092 |
| 68 | Ribosome_Homo sapiens_hsa03010 | 0.58612532 |
| 69 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.58208174 |
| 70 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.57642640 |
| 71 | Circadian entrainment_Homo sapiens_hsa04713 | 0.57239870 |
| 72 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.57083247 |
| 73 | Long-term depression_Homo sapiens_hsa04730 | 0.56496384 |
| 74 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.50444437 |
| 75 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.49533082 |
| 76 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.48913800 |
| 77 | Bile secretion_Homo sapiens_hsa04976 | 0.46156449 |
| 78 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.45409359 |
| 79 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.44899191 |
| 80 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.43992257 |
| 81 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.42950370 |
| 82 | Galactose metabolism_Homo sapiens_hsa00052 | 0.42820551 |
| 83 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.41672554 |
| 84 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.41601883 |
| 85 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.40875888 |
| 86 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.38343791 |
| 87 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.37633706 |
| 88 | Other glycan degradation_Homo sapiens_hsa00511 | 0.37424352 |
| 89 | Cocaine addiction_Homo sapiens_hsa05030 | 0.37324328 |
| 90 | Gap junction_Homo sapiens_hsa04540 | 0.36671489 |
| 91 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.34104798 |
| 92 | Melanogenesis_Homo sapiens_hsa04916 | 0.33957840 |
| 93 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.32901779 |
| 94 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.32538030 |
| 95 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.32040353 |
| 96 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.31618909 |
| 97 | Retinol metabolism_Homo sapiens_hsa00830 | 0.31489853 |
| 98 | Prion diseases_Homo sapiens_hsa05020 | 0.31250485 |
| 99 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.29111134 |
| 100 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.28903067 |

