

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | regulation of pigment cell differentiation (GO:0050932) | 5.24204867 |
| 2 | glial cell proliferation (GO:0014009) | 5.18989838 |
| 3 | presynaptic membrane assembly (GO:0097105) | 4.80456019 |
| 4 | neural tube formation (GO:0001841) | 4.74751790 |
| 5 | negative regulation of dendrite development (GO:2000171) | 4.52837090 |
| 6 | limb bud formation (GO:0060174) | 4.50277773 |
| 7 | glomerulus development (GO:0032835) | 4.48816352 |
| 8 | postsynaptic membrane organization (GO:0001941) | 4.45949888 |
| 9 | facial nerve structural organization (GO:0021612) | 4.41124361 |
| 10 | pyrimidine nucleobase catabolic process (GO:0006208) | 4.37914487 |
| 11 | neurotransmitter-gated ion channel clustering (GO:0072578) | 4.36175940 |
| 12 | presynaptic membrane organization (GO:0097090) | 4.21184125 |
| 13 | cerebral cortex radially oriented cell migration (GO:0021799) | 4.17916585 |
| 14 | cranial nerve structural organization (GO:0021604) | 4.00879851 |
| 15 | negative regulation of astrocyte differentiation (GO:0048712) | 3.97367637 |
| 16 | cell differentiation involved in metanephros development (GO:0072202) | 3.85530419 |
| 17 | cardiac ventricle formation (GO:0003211) | 3.82130182 |
| 18 | hindbrain development (GO:0030902) | 3.76706358 |
| 19 | regulation of collateral sprouting (GO:0048670) | 3.75697137 |
| 20 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 3.69671539 |
| 21 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 3.69671539 |
| 22 | sympathetic nervous system development (GO:0048485) | 3.66377486 |
| 23 | negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037) | 3.61302848 |
| 24 | positive regulation of male gonad development (GO:2000020) | 3.60485292 |
| 25 | olfactory bulb development (GO:0021772) | 3.58833425 |
| 26 | nucleobase catabolic process (GO:0046113) | 3.51661290 |
| 27 | cornea development in camera-type eye (GO:0061303) | 3.51071504 |
| 28 | cardiac chamber formation (GO:0003207) | 3.49479368 |
| 29 | transmission of nerve impulse (GO:0019226) | 3.42849562 |
| 30 | regulation of non-canonical Wnt signaling pathway (GO:2000050) | 3.40684275 |
| 31 | short-term memory (GO:0007614) | 3.39960007 |
| 32 | metanephric nephron tubule development (GO:0072234) | 3.39762248 |
| 33 | metanephric tubule development (GO:0072170) | 3.39762248 |
| 34 | negative regulation of translation involved in gene silencing by miRNA (GO:0035278) | 3.39475484 |
| 35 | negative regulation of translation, ncRNA-mediated (GO:0040033) | 3.39475484 |
| 36 | regulation of translation, ncRNA-mediated (GO:0045974) | 3.39475484 |
| 37 | endocardial cushion morphogenesis (GO:0003203) | 3.32272810 |
| 38 | central nervous system projection neuron axonogenesis (GO:0021952) | 3.31824668 |
| 39 | negative regulation of keratinocyte proliferation (GO:0010839) | 3.29174027 |
| 40 | forebrain neuron differentiation (GO:0021879) | 3.28555149 |
| 41 | DNA double-strand break processing (GO:0000729) | 3.28205571 |
| 42 | mesenchymal cell development (GO:0014031) | 3.27206198 |
| 43 | regulation of timing of cell differentiation (GO:0048505) | 3.25123811 |
| 44 | keratinocyte development (GO:0003334) | 3.24650868 |
| 45 | ionotropic glutamate receptor signaling pathway (GO:0035235) | 3.22098726 |
| 46 | inner ear receptor stereocilium organization (GO:0060122) | 3.17751058 |
| 47 | photoreceptor cell differentiation (GO:0046530) | 3.15009248 |
| 48 | eye photoreceptor cell differentiation (GO:0001754) | 3.15009248 |
| 49 | mesenchyme morphogenesis (GO:0072132) | 3.13738696 |
| 50 | anatomical structure arrangement (GO:0048532) | 3.13093711 |
| 51 | cranial nerve morphogenesis (GO:0021602) | 3.11928257 |
| 52 | negative regulation of axon extension (GO:0030517) | 3.11142765 |
| 53 | negative regulation of DNA binding (GO:0043392) | 3.10849864 |
| 54 | sequestering of extracellular ligand from receptor (GO:0035581) | 3.08833429 |
| 55 | central nervous system neuron axonogenesis (GO:0021955) | 3.07197273 |
| 56 | peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800) | 3.02704101 |
| 57 | negative regulation of osteoblast proliferation (GO:0033689) | 3.00829811 |
| 58 | central nervous system myelination (GO:0022010) | 3.00153043 |
| 59 | axon ensheathment in central nervous system (GO:0032291) | 3.00153043 |
| 60 | ventricular septum morphogenesis (GO:0060412) | 2.99718724 |
| 61 | lung secretory cell differentiation (GO:0061140) | 2.98252720 |
| 62 | omega-hydroxylase P450 pathway (GO:0097267) | 2.97867611 |
| 63 | neuron cell-cell adhesion (GO:0007158) | 2.97820999 |
| 64 | metanephric nephron epithelium development (GO:0072243) | 2.95277918 |
| 65 | glutamate receptor signaling pathway (GO:0007215) | 2.94368370 |
| 66 | regulation of development, heterochronic (GO:0040034) | 2.91632336 |
| 67 | atrial cardiac muscle cell action potential (GO:0086014) | 2.88884167 |
| 68 | metanephric epithelium development (GO:0072207) | 2.87456148 |
| 69 | oligodendrocyte differentiation (GO:0048709) | 2.85109576 |
| 70 | somite development (GO:0061053) | 2.83580108 |
| 71 | negative regulation of protein localization to cell surface (GO:2000009) | 2.82648142 |
| 72 | regulation of hippo signaling (GO:0035330) | 2.82633328 |
| 73 | regulation of keratinocyte proliferation (GO:0010837) | 2.81115941 |
| 74 | nephron epithelium development (GO:0072009) | 2.79493343 |
| 75 | cerebral cortex cell migration (GO:0021795) | 2.79471176 |
| 76 | dermatan sulfate biosynthetic process (GO:0030208) | 2.77841047 |
| 77 | nephron tubule development (GO:0072080) | 2.77784051 |
| 78 | mesonephros development (GO:0001823) | 2.77394583 |
| 79 | extracellular regulation of signal transduction (GO:1900115) | 2.77328708 |
| 80 | extracellular negative regulation of signal transduction (GO:1900116) | 2.77328708 |
| 81 | stem cell development (GO:0048864) | 2.74876588 |
| 82 | neural crest cell development (GO:0014032) | 2.73917532 |
| 83 | regulation of mesenchymal cell apoptotic process (GO:2001053) | 2.72934666 |
| 84 | negative regulation of stem cell proliferation (GO:2000647) | 2.71977918 |
| 85 | pattern specification involved in kidney development (GO:0061004) | 2.71443002 |
| 86 | righting reflex (GO:0060013) | 2.71313706 |
| 87 | kidney morphogenesis (GO:0060993) | 2.70142818 |
| 88 | cell differentiation involved in kidney development (GO:0061005) | 2.68743925 |
| 89 | positive regulation of protein kinase C signaling (GO:0090037) | 2.68484120 |
| 90 | dermatan sulfate metabolic process (GO:0030205) | 2.68202373 |
| 91 | substrate-independent telencephalic tangential migration (GO:0021826) | 2.67919841 |
| 92 | substrate-independent telencephalic tangential interneuron migration (GO:0021843) | 2.67919841 |
| 93 | spinal cord development (GO:0021510) | 2.67141524 |
| 94 | negative regulation of protein oligomerization (GO:0032460) | 2.66702445 |
| 95 | detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) | 2.66620953 |
| 96 | cellular response to sterol (GO:0036315) | 2.66193358 |
| 97 | retinal rod cell development (GO:0046548) | 2.65937968 |
| 98 | positive regulation of synapse assembly (GO:0051965) | 2.65604266 |
| 99 | lateral sprouting from an epithelium (GO:0060601) | 2.64999269 |
| 100 | embryonic epithelial tube formation (GO:0001838) | 2.63913911 |
| 101 | vocalization behavior (GO:0071625) | 2.61689522 |
| 102 | regulation of axon extension involved in axon guidance (GO:0048841) | 2.61174141 |
| 103 | relaxation of smooth muscle (GO:0044557) | 2.60930214 |
| 104 | protein localization to synapse (GO:0035418) | 2.59585194 |
| 105 | cochlea development (GO:0090102) | 2.59192897 |
| 106 | startle response (GO:0001964) | 2.56505194 |
| 107 | dendrite morphogenesis (GO:0048813) | 2.56346772 |
| 108 | response to auditory stimulus (GO:0010996) | 2.56311984 |
| 109 | regulation of respiratory gaseous exchange by neurological system process (GO:0002087) | 2.56283258 |
| 110 | regulation of male gonad development (GO:2000018) | 2.55272407 |
| 111 | enteric nervous system development (GO:0048484) | 2.55022185 |
| 112 | androgen biosynthetic process (GO:0006702) | 2.54968347 |
| 113 | G-protein coupled glutamate receptor signaling pathway (GO:0007216) | 2.54387859 |
| 114 | renal tubule development (GO:0061326) | 2.53487717 |
| 115 | behavioral response to ethanol (GO:0048149) | 2.53254177 |
| 116 | dentate gyrus development (GO:0021542) | 2.53245391 |
| 117 | C4-dicarboxylate transport (GO:0015740) | 2.52975473 |
| 118 | retina layer formation (GO:0010842) | 2.52649787 |
| 119 | microtubule depolymerization (GO:0007019) | 2.52601882 |
| 120 | axonal fasciculation (GO:0007413) | 2.52593247 |
| 121 | neuron fate determination (GO:0048664) | 2.52547594 |
| 122 | cellular response to cholesterol (GO:0071397) | 2.52282321 |
| 123 | cilium morphogenesis (GO:0060271) | 2.52194194 |
| 124 | melanin metabolic process (GO:0006582) | 2.51779207 |
| 125 | embryonic digestive tract morphogenesis (GO:0048557) | 2.51250419 |
| 126 | positive regulation of amino acid transport (GO:0051957) | 2.50838264 |
| 127 | negative regulation of axon guidance (GO:1902668) | 2.49758178 |
| 128 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.49462084 |
| 129 | retinal ganglion cell axon guidance (GO:0031290) | 2.48306579 |
| 130 | negative regulation of synaptic transmission, glutamatergic (GO:0051967) | 2.47883277 |
| 131 | dendritic spine morphogenesis (GO:0060997) | 2.47210523 |
| 132 | negative chemotaxis (GO:0050919) | 2.47064103 |
| 133 | otic vesicle formation (GO:0030916) | 2.46503645 |
| 134 | metanephric mesenchyme development (GO:0072075) | 2.46390083 |
| 135 | cell proliferation in forebrain (GO:0021846) | 2.46355853 |
| 136 | negative regulation of axon extension involved in axon guidance (GO:0048843) | 2.46011290 |
| 137 | tachykinin receptor signaling pathway (GO:0007217) | 2.45729180 |
| 138 | epithelial tube formation (GO:0072175) | 2.45522921 |
| 139 | fibroblast migration (GO:0010761) | 2.44850019 |
| 140 | limb development (GO:0060173) | 2.44760252 |
| 141 | appendage development (GO:0048736) | 2.44760252 |
| 142 | forebrain neuron development (GO:0021884) | 2.44547404 |
| 143 | chondroitin sulfate catabolic process (GO:0030207) | 2.44403229 |
| 144 | membrane depolarization during cardiac muscle cell action potential (GO:0086012) | 2.44100370 |
| 145 | microtubule anchoring (GO:0034453) | 2.42939002 |
| 146 | positive regulation of sodium ion transmembrane transport (GO:1902307) | 2.42938282 |
| 147 | regulation of neurotransmitter uptake (GO:0051580) | 2.42222331 |
| 148 | regulation of somitogenesis (GO:0014807) | 2.42082310 |
| 149 | negative regulation of cytosolic calcium ion concentration (GO:0051481) | 2.41438375 |
| 150 | epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198) | 2.41185994 |
| 151 | glial cell differentiation (GO:0010001) | 2.41030843 |
| 152 | heart valve formation (GO:0003188) | 2.40887071 |
| 153 | epithelial cilium movement (GO:0003351) | 2.40531129 |
| 154 | mechanosensory behavior (GO:0007638) | 2.40431182 |
| 155 | positive regulation of sodium ion transmembrane transporter activity (GO:2000651) | 2.40399503 |
| 156 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 2.39759304 |
| 157 | regulation of axon guidance (GO:1902667) | 2.39305622 |
| 158 | positive regulation of vascular permeability (GO:0043117) | 2.39293488 |
| 159 | detection of light stimulus involved in sensory perception (GO:0050962) | 2.39262050 |
| 160 | detection of light stimulus involved in visual perception (GO:0050908) | 2.39262050 |
| 161 | synapse assembly (GO:0007416) | 2.39232691 |
| 162 | neuronal action potential propagation (GO:0019227) | 2.38809350 |
| 163 | protein heterotetramerization (GO:0051290) | 2.38780061 |
| 164 | regulation of dendritic spine development (GO:0060998) | 2.38305310 |
| 165 | neuron recognition (GO:0008038) | 2.38118966 |
| 166 | negative regulation of transcription regulatory region DNA binding (GO:2000678) | 2.38022021 |
| 167 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 2.37981430 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.97512344 |
| 2 | GBX2_23144817_ChIP-Seq_PC3_Human | 3.63815368 |
| 3 | AR_21572438_ChIP-Seq_LNCaP_Human | 3.04779250 |
| 4 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 2.83363166 |
| 5 | * JARID2_20064375_ChIP-Seq_MESCs_Mouse | 2.82670578 |
| 6 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 2.82293101 |
| 7 | * EZH2_27304074_Chip-Seq_ESCs_Mouse | 2.75673750 |
| 8 | * SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 2.71374530 |
| 9 | * SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 2.68717184 |
| 10 | * SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 2.66406492 |
| 11 | * RNF2_18974828_ChIP-Seq_MESCs_Mouse | 2.60911056 |
| 12 | * EZH2_18974828_ChIP-Seq_MESCs_Mouse | 2.60911056 |
| 13 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.54468761 |
| 14 | * JARID2_20075857_ChIP-Seq_MESCs_Mouse | 2.54100221 |
| 15 | * PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 2.46355773 |
| 16 | * SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 2.36868494 |
| 17 | * CBX2_27304074_Chip-Seq_ESCs_Mouse | 2.34330408 |
| 18 | * SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 2.33265512 |
| 19 | * RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 2.29089127 |
| 20 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.20404718 |
| 21 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.18401118 |
| 22 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 2.13836793 |
| 23 | * ZFP57_27257070_Chip-Seq_ESCs_Mouse | 2.11927443 |
| 24 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.11590376 |
| 25 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.11052665 |
| 26 | * EZH2_27294783_Chip-Seq_ESCs_Mouse | 2.06805696 |
| 27 | * RNF2_27304074_Chip-Seq_ESCs_Mouse | 2.06354665 |
| 28 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 2.04601840 |
| 29 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 2.03852164 |
| 30 | * PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 2.00821110 |
| 31 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.94407927 |
| 32 | * MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.91768950 |
| 33 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.90303318 |
| 34 | * SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.87164089 |
| 35 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.84629102 |
| 36 | * CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.82079627 |
| 37 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.80289405 |
| 38 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.75205674 |
| 39 | * SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.74253429 |
| 40 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.71272996 |
| 41 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.69792446 |
| 42 | * P300_19829295_ChIP-Seq_ESCs_Human | 1.68305396 |
| 43 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.66431377 |
| 44 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.66148867 |
| 45 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 1.59917277 |
| 46 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.56799500 |
| 47 | * POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.52251020 |
| 48 | FUS_26573619_Chip-Seq_HEK293_Human | 1.51426601 |
| 49 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.50955776 |
| 50 | * SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.50653286 |
| 51 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.50144418 |
| 52 | * SMAD4_21799915_ChIP-Seq_A2780_Human | 1.47971148 |
| 53 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.44859598 |
| 54 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.44660237 |
| 55 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.39956387 |
| 56 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.39956387 |
| 57 | * OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.39926229 |
| 58 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.32602397 |
| 59 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.32181944 |
| 60 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.31855285 |
| 61 | * MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.31700916 |
| 62 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 1.31154409 |
| 63 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.31077631 |
| 64 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 1.30781930 |
| 65 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.29967949 |
| 66 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.29940090 |
| 67 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.29535653 |
| 68 | * TP53_20018659_ChIP-ChIP_R1E_Mouse | 1.29439524 |
| 69 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.28634823 |
| 70 | * RING1B_27294783_Chip-Seq_NPCs_Mouse | 1.28581439 |
| 71 | * SOX9_26525672_Chip-Seq_HEART_Mouse | 1.27104167 |
| 72 | * NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.25015250 |
| 73 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.24453902 |
| 74 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.24237113 |
| 75 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.23699211 |
| 76 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.21631268 |
| 77 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.21581634 |
| 78 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.19584773 |
| 79 | TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 1.18065894 |
| 80 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.17658030 |
| 81 | * AR_25329375_ChIP-Seq_VCAP_Human | 1.16769237 |
| 82 | * AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.16735759 |
| 83 | * STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse | 1.16540027 |
| 84 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.16418995 |
| 85 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.15647315 |
| 86 | * KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.15498912 |
| 87 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.15104341 |
| 88 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.15002412 |
| 89 | * RING1B_27294783_Chip-Seq_ESCs_Mouse | 1.14956653 |
| 90 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 1.14482835 |
| 91 | * TRIM28_17542650_ChIP-ChIP_NTERA2_Human | 1.14321425 |
| 92 | * LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.13577297 |
| 93 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.13386071 |
| 94 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.13114597 |
| 95 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.12772279 |
| 96 | VDR_22108803_ChIP-Seq_LS180_Human | 1.12686597 |
| 97 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.12066635 |
| 98 | * RUNX2_22187159_ChIP-Seq_PCA_Human | 1.09948285 |
| 99 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.09891375 |
| 100 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.09676450 |
| 101 | * ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.09480035 |
| 102 | * BCAT_22108803_ChIP-Seq_LS180_Human | 1.09368046 |
| 103 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.08895752 |
| 104 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.07498517 |
| 105 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.07308312 |
| 106 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.07291873 |
| 107 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.06857723 |
| 108 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.06740628 |
| 109 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.04970501 |
| 110 | VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human | 1.04107161 |
| 111 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.03326475 |
| 112 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.03212190 |
| 113 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.03182502 |
| 114 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.02713175 |
| 115 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.02713175 |
| 116 | * STAT3_23295773_ChIP-Seq_U87_Human | 1.02478762 |
| 117 | * TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.01590542 |
| 118 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.00462951 |
| 119 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.00334566 |
| 120 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.00238730 |
| 121 | TCF4_23295773_ChIP-Seq_U87_Human | 0.99408956 |
| 122 | KDM2B_26808549_Chip-Seq_REH_Human | 0.98261258 |
| 123 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 0.98260820 |
| 124 | EWS_26573619_Chip-Seq_HEK293_Human | 0.96702154 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003136_yellow_coat_color | 4.32006988 |
| 2 | MP0001188_hyperpigmentation | 3.51278730 |
| 3 | MP0009379_abnormal_foot_pigmentation | 3.31355239 |
| 4 | MP0005409_darkened_coat_color | 3.22298130 |
| 5 | MP0000566_synostosis | 2.67725737 |
| 6 | MP0005503_abnormal_tendon_morphology | 2.65090059 |
| 7 | MP0006292_abnormal_olfactory_placode | 2.57738784 |
| 8 | MP0004381_abnormal_hair_follicle | 2.53305715 |
| 9 | MP0000049_abnormal_middle_ear | 2.48355469 |
| 10 | MP0003880_abnormal_central_pattern | 2.43171587 |
| 11 | MP0002234_abnormal_pharynx_morphology | 2.30985573 |
| 12 | MP0005171_absent_coat_pigmentation | 2.29582507 |
| 13 | MP0005367_renal/urinary_system_phenotyp | 2.27964320 |
| 14 | MP0000516_abnormal_urinary_system | 2.27964320 |
| 15 | MP0009384_cardiac_valve_regurgitation | 1.99701924 |
| 16 | MP0000569_abnormal_digit_pigmentation | 1.99520386 |
| 17 | MP0002249_abnormal_larynx_morphology | 1.99137837 |
| 18 | MP0009250_abnormal_appendicular_skeleto | 1.93009589 |
| 19 | MP0004859_abnormal_synaptic_plasticity | 1.92396105 |
| 20 | MP0001529_abnormal_vocalization | 1.90631828 |
| 21 | MP0003385_abnormal_body_wall | 1.87313740 |
| 22 | MP0005187_abnormal_penis_morphology | 1.82221994 |
| 23 | MP0001486_abnormal_startle_reflex | 1.77708840 |
| 24 | MP0008438_abnormal_cutaneous_collagen | 1.77322705 |
| 25 | * MP0000778_abnormal_nervous_system | 1.71691368 |
| 26 | MP0000015_abnormal_ear_pigmentation | 1.69690442 |
| 27 | MP0003011_delayed_dark_adaptation | 1.64949380 |
| 28 | MP0008789_abnormal_olfactory_epithelium | 1.64504998 |
| 29 | MP0000372_irregular_coat_pigmentation | 1.57083527 |
| 30 | MP0003787_abnormal_imprinting | 1.52325361 |
| 31 | MP0001984_abnormal_olfaction | 1.51597616 |
| 32 | MP0002751_abnormal_autonomic_nervous | 1.51593496 |
| 33 | MP0002063_abnormal_learning/memory/cond | 1.49395648 |
| 34 | MP0005551_abnormal_eye_electrophysiolog | 1.48752608 |
| 35 | MP0010368_abnormal_lymphatic_system | 1.48171520 |
| 36 | MP0000631_abnormal_neuroendocrine_gland | 1.46385389 |
| 37 | MP0001346_abnormal_lacrimal_gland | 1.45943707 |
| 38 | MP0002177_abnormal_outer_ear | 1.45856396 |
| 39 | MP0002009_preneoplasia | 1.45767446 |
| 40 | MP0000026_abnormal_inner_ear | 1.37548298 |
| 41 | MP0004145_abnormal_muscle_electrophysio | 1.37134894 |
| 42 | MP0006276_abnormal_autonomic_nervous | 1.36609650 |
| 43 | MP0004885_abnormal_endolymph | 1.36596010 |
| 44 | MP0004924_abnormal_behavior | 1.35556408 |
| 45 | MP0005386_behavior/neurological_phenoty | 1.35556408 |
| 46 | MP0008877_abnormal_DNA_methylation | 1.34845833 |
| 47 | MP0000647_abnormal_sebaceous_gland | 1.34219275 |
| 48 | MP0008872_abnormal_physiological_respon | 1.30534037 |
| 49 | MP0002067_abnormal_sensory_capabilities | 1.30337998 |
| 50 | MP0000751_myopathy | 1.28894854 |
| 51 | MP0003755_abnormal_palate_morphology | 1.28802988 |
| 52 | MP0002876_abnormal_thyroid_physiology | 1.28012094 |
| 53 | MP0002184_abnormal_innervation | 1.27815821 |
| 54 | MP0002938_white_spotting | 1.26616254 |
| 55 | MP0001968_abnormal_touch/_nociception | 1.24357903 |
| 56 | MP0004272_abnormal_basement_membrane | 1.21868364 |
| 57 | MP0001879_abnormal_lymphatic_vessel | 1.21833416 |
| 58 | MP0005595_abnormal_vascular_smooth | 1.20940153 |
| 59 | MP0001501_abnormal_sleep_pattern | 1.20276525 |
| 60 | MP0000428_abnormal_craniofacial_morphol | 1.19968837 |
| 61 | MP0002272_abnormal_nervous_system | 1.18983159 |
| 62 | MP0002752_abnormal_somatic_nervous | 1.18974442 |
| 63 | MP0002233_abnormal_nose_morphology | 1.18880414 |
| 64 | MP0003938_abnormal_ear_development | 1.18783723 |
| 65 | MP0010030_abnormal_orbit_morphology | 1.18741930 |
| 66 | MP0002734_abnormal_mechanical_nocicepti | 1.16592439 |
| 67 | MP0004142_abnormal_muscle_tone | 1.15451103 |
| 68 | MP0001177_atelectasis | 1.15026409 |
| 69 | MP0000762_abnormal_tongue_morphology | 1.14154508 |
| 70 | MP0002735_abnormal_chemical_nociception | 1.13378505 |
| 71 | MP0009046_muscle_twitch | 1.13260701 |
| 72 | MP0001970_abnormal_pain_threshold | 1.13109559 |
| 73 | MP0005499_abnormal_olfactory_system | 1.12124774 |
| 74 | MP0005394_taste/olfaction_phenotype | 1.12124774 |
| 75 | MP0002653_abnormal_ependyma_morphology | 1.11382358 |
| 76 | MP0001502_abnormal_circadian_rhythm | 1.10794398 |
| 77 | * MP0003861_abnormal_nervous_system | 1.10747020 |
| 78 | MP0002736_abnormal_nociception_after | 1.10268190 |
| 79 | MP0004043_abnormal_pH_regulation | 1.09765749 |
| 80 | MP0005275_abnormal_skin_tensile | 1.06694937 |
| 81 | MP0003121_genomic_imprinting | 1.05805590 |
| 82 | MP0001963_abnormal_hearing_physiology | 1.05798229 |
| 83 | MP0000538_abnormal_urinary_bladder | 1.04809086 |
| 84 | MP0001270_distended_abdomen | 1.03826344 |
| 85 | MP0002557_abnormal_social/conspecific_i | 1.03689345 |
| 86 | * MP0002152_abnormal_brain_morphology | 1.03089715 |
| 87 | MP0005646_abnormal_pituitary_gland | 1.02610021 |
| 88 | MP0002116_abnormal_craniofacial_bone | 1.02055652 |
| 89 | MP0003937_abnormal_limbs/digits/tail_de | 1.01170597 |
| 90 | MP0002108_abnormal_muscle_morphology | 1.00625935 |
| 91 | MP0009053_abnormal_anal_canal | 1.00190626 |
| 92 | MP0003137_abnormal_impulse_conducting | 0.99786994 |
| 93 | * MP0000955_abnormal_spinal_cord | 0.98367815 |
| 94 | MP0005195_abnormal_posterior_eye | 0.97725126 |
| 95 | MP0001986_abnormal_taste_sensitivity | 0.97009351 |
| 96 | MP0001485_abnormal_pinna_reflex | 0.95280706 |
| 97 | MP0003935_abnormal_craniofacial_develop | 0.95185760 |
| 98 | MP0003635_abnormal_synaptic_transmissio | 0.94943464 |
| 99 | MP0004811_abnormal_neuron_physiology | 0.93399682 |
| 100 | MP0005391_vision/eye_phenotype | 0.92840673 |
| 101 | MP0004270_analgesia | 0.92111928 |
| 102 | MP0005257_abnormal_intraocular_pressure | 0.91543585 |
| 103 | MP0002282_abnormal_trachea_morphology | 0.90846287 |
| 104 | MP0005248_abnormal_Harderian_gland | 0.90547097 |
| 105 | MP0004134_abnormal_chest_morphology | 0.90058156 |
| 106 | MP0004742_abnormal_vestibular_system | 0.89971922 |
| 107 | MP0000537_abnormal_urethra_morphology | 0.89156955 |
| 108 | MP0008569_lethality_at_weaning | 0.88068333 |
| 109 | MP0002733_abnormal_thermal_nociception | 0.87858362 |
| 110 | MP0002102_abnormal_ear_morphology | 0.87053996 |
| 111 | MP0005253_abnormal_eye_physiology | 0.86435577 |
| 112 | * MP0000534_abnormal_ureter_morphology | 0.86335639 |
| 113 | MP0009745_abnormal_behavioral_response | 0.85860871 |
| 114 | MP0001299_abnormal_eye_distance/ | 0.85066962 |
| 115 | MP0001286_abnormal_eye_development | 0.84859532 |
| 116 | MP0002932_abnormal_joint_morphology | 0.84651247 |
| 117 | * MP0002882_abnormal_neuron_morphology | 0.84330149 |
| 118 | MP0001340_abnormal_eyelid_morphology | 0.83526389 |
| 119 | MP0000579_abnormal_nail_morphology | 0.83206421 |
| 120 | MP0005174_abnormal_tail_pigmentation | 0.83156412 |
| 121 | MP0005423_abnormal_somatic_nervous | 0.83153886 |
| 122 | MP0000613_abnormal_salivary_gland | 0.83013832 |
| 123 | MP0000749_muscle_degeneration | 0.82424537 |
| 124 | MP0002638_abnormal_pupillary_reflex | 0.81726945 |
| 125 | * MP0003942_abnormal_urinary_system | 0.81706180 |
| 126 | MP0003119_abnormal_digestive_system | 0.81162310 |
| 127 | MP0000163_abnormal_cartilage_morphology | 0.80887864 |
| 128 | MP0004215_abnormal_myocardial_fiber | 0.79639310 |
| 129 | MP0002064_seizures | 0.79241308 |
| 130 | MP0002572_abnormal_emotion/affect_behav | 0.79009443 |
| 131 | MP0006072_abnormal_retinal_apoptosis | 0.78166721 |
| 132 | MP0003633_abnormal_nervous_system | 0.77832341 |
| 133 | MP0002081_perinatal_lethality | 0.75027611 |
| 134 | * MP0002066_abnormal_motor_capabilities/c | 0.74756035 |
| 135 | MP0002111_abnormal_tail_morphology | 0.71620613 |
| 136 | MP0004085_abnormal_heartbeat | 0.70049506 |
| 137 | MP0002837_dystrophic_cardiac_calcinosis | 0.69821375 |
| 138 | MP0003122_maternal_imprinting | 0.68983101 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormality of the axillary hair (HP:0100134) | 3.95720480 |
| 2 | Abnormality of secondary sexual hair (HP:0009888) | 3.95720480 |
| 3 | Abnormality of the labia minora (HP:0012880) | 3.93459579 |
| 4 | Septo-optic dysplasia (HP:0100842) | 3.82792211 |
| 5 | Focal seizures (HP:0007359) | 3.69276567 |
| 6 | Sex reversal (HP:0012245) | 3.43667229 |
| 7 | Abnormal sex determination (HP:0012244) | 3.43667229 |
| 8 | Optic nerve hypoplasia (HP:0000609) | 3.35306007 |
| 9 | Short 4th metacarpal (HP:0010044) | 3.33168901 |
| 10 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 3.33168901 |
| 11 | Obstructive sleep apnea (HP:0002870) | 3.29904202 |
| 12 | Pancreatic cysts (HP:0001737) | 3.20975730 |
| 13 | Drooling (HP:0002307) | 3.17328319 |
| 14 | Febrile seizures (HP:0002373) | 2.97233965 |
| 15 | Congenital stationary night blindness (HP:0007642) | 2.94611605 |
| 16 | Hemiparesis (HP:0001269) | 2.89816640 |
| 17 | Excessive salivation (HP:0003781) | 2.87944187 |
| 18 | Renal hypoplasia (HP:0000089) | 2.85097490 |
| 19 | Hypothermia (HP:0002045) | 2.83504600 |
| 20 | Abnormality of midbrain morphology (HP:0002418) | 2.79028640 |
| 21 | Molar tooth sign on MRI (HP:0002419) | 2.79028640 |
| 22 | Absent septum pellucidum (HP:0001331) | 2.74614235 |
| 23 | Increased corneal curvature (HP:0100692) | 2.73929670 |
| 24 | Keratoconus (HP:0000563) | 2.73929670 |
| 25 | Pulmonary artery stenosis (HP:0004415) | 2.72234898 |
| 26 | Aplasia/Hypoplasia of the sternum (HP:0006714) | 2.70760330 |
| 27 | True hermaphroditism (HP:0010459) | 2.70031136 |
| 28 | Hepatoblastoma (HP:0002884) | 2.68616652 |
| 29 | Hypoplastic left heart (HP:0004383) | 2.63344943 |
| 30 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.58770473 |
| 31 | Abnormality of the septum pellucidum (HP:0007375) | 2.58572183 |
| 32 | Tented upper lip vermilion (HP:0010804) | 2.58076397 |
| 33 | Volvulus (HP:0002580) | 2.56612987 |
| 34 | Chronic hepatic failure (HP:0100626) | 2.55388857 |
| 35 | Intestinal atresia (HP:0011100) | 2.52554694 |
| 36 | Abnormality of the 4th metacarpal (HP:0010012) | 2.51552907 |
| 37 | Short tibia (HP:0005736) | 2.46814313 |
| 38 | Split foot (HP:0001839) | 2.45976297 |
| 39 | Cystic liver disease (HP:0006706) | 2.45893872 |
| 40 | Long clavicles (HP:0000890) | 2.45638479 |
| 41 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 2.43820129 |
| 42 | Abnormality of the phalanges of the hallux (HP:0010057) | 2.43312823 |
| 43 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.41220550 |
| 44 | Narrow forehead (HP:0000341) | 2.39991990 |
| 45 | Aplasia involving bones of the extremities (HP:0009825) | 2.38549575 |
| 46 | Aplasia involving bones of the upper limbs (HP:0009823) | 2.38549575 |
| 47 | Aplasia of the phalanges of the hand (HP:0009802) | 2.38549575 |
| 48 | Nonprogressive disorder (HP:0003680) | 2.36855311 |
| 49 | Astrocytoma (HP:0009592) | 2.36347203 |
| 50 | Abnormality of the astrocytes (HP:0100707) | 2.36347203 |
| 51 | Tubulointerstitial nephritis (HP:0001970) | 2.36314268 |
| 52 | Abnormal ciliary motility (HP:0012262) | 2.36123885 |
| 53 | Nephronophthisis (HP:0000090) | 2.34421760 |
| 54 | Agitation (HP:0000713) | 2.34298676 |
| 55 | Sleep apnea (HP:0010535) | 2.32480040 |
| 56 | Fair hair (HP:0002286) | 2.32229627 |
| 57 | Nasolacrimal duct obstruction (HP:0000579) | 2.31122487 |
| 58 | Severe visual impairment (HP:0001141) | 2.31085846 |
| 59 | Broad-based gait (HP:0002136) | 2.30999799 |
| 60 | Absent speech (HP:0001344) | 2.27296277 |
| 61 | Synostosis involving the elbow (HP:0003938) | 2.26233995 |
| 62 | Humeroradial synostosis (HP:0003041) | 2.26233995 |
| 63 | Cutaneous finger syndactyly (HP:0010554) | 2.25077179 |
| 64 | Ulnar claw (HP:0001178) | 2.24431091 |
| 65 | Thyroid-stimulating hormone excess (HP:0002925) | 2.23831746 |
| 66 | Oligodactyly (hands) (HP:0001180) | 2.23464379 |
| 67 | Concave nail (HP:0001598) | 2.21582910 |
| 68 | Glioma (HP:0009733) | 2.20500122 |
| 69 | Decreased central vision (HP:0007663) | 2.19807366 |
| 70 | Hyperventilation (HP:0002883) | 2.19644516 |
| 71 | Exotropia (HP:0000577) | 2.18560064 |
| 72 | White forelock (HP:0002211) | 2.17789088 |
| 73 | Abnormality of incisor morphology (HP:0011063) | 2.17471590 |
| 74 | Focal motor seizures (HP:0011153) | 2.17170415 |
| 75 | Bradycardia (HP:0001662) | 2.16659881 |
| 76 | Hypoplastic heart (HP:0001961) | 2.16563725 |
| 77 | Abnormality of the renal medulla (HP:0100957) | 2.11751477 |
| 78 | Atonic seizures (HP:0010819) | 2.10090425 |
| 79 | Cupped ear (HP:0000378) | 2.09943217 |
| 80 | Lissencephaly (HP:0001339) | 2.09703566 |
| 81 | Alacrima (HP:0000522) | 2.09693031 |
| 82 | Generalized tonic-clonic seizures (HP:0002069) | 2.09504895 |
| 83 | Type I transferrin isoform profile (HP:0003642) | 2.09003540 |
| 84 | Widely spaced teeth (HP:0000687) | 2.08575194 |
| 85 | Patchy hypopigmentation of hair (HP:0011365) | 2.07613218 |
| 86 | Postaxial hand polydactyly (HP:0001162) | 2.06370542 |
| 87 | Cutaneous syndactyly (HP:0012725) | 2.06226038 |
| 88 | Sclerocornea (HP:0000647) | 2.05888079 |
| 89 | Laryngomalacia (HP:0001601) | 2.04943640 |
| 90 | Anencephaly (HP:0002323) | 2.04189123 |
| 91 | Renal Fanconi syndrome (HP:0001994) | 2.03548536 |
| 92 | Impaired social interactions (HP:0000735) | 2.02889259 |
| 93 | Abnormal social behavior (HP:0012433) | 2.02889259 |
| 94 | Coronal craniosynostosis (HP:0004440) | 2.02696721 |
| 95 | Protruding tongue (HP:0010808) | 2.00618600 |
| 96 | Progressive cerebellar ataxia (HP:0002073) | 1.99921790 |
| 97 | Bifid scrotum (HP:0000048) | 1.98835465 |
| 98 | Retinal dysplasia (HP:0007973) | 1.98788633 |
| 99 | Abnormality of the antihelix (HP:0009738) | 1.98727994 |
| 100 | Limited hip movement (HP:0008800) | 1.98471197 |
| 101 | Hypoplasia of the fovea (HP:0007750) | 1.97245155 |
| 102 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.97245155 |
| 103 | Abnormality of the nasolacrimal system (HP:0000614) | 1.96951559 |
| 104 | Medial flaring of the eyebrow (HP:0010747) | 1.96493130 |
| 105 | Midline defect of the nose (HP:0004122) | 1.96469367 |
| 106 | Dialeptic seizures (HP:0011146) | 1.95682837 |
| 107 | Reduced antithrombin III activity (HP:0001976) | 1.95559191 |
| 108 | Abnormality of renal resorption (HP:0011038) | 1.94726900 |
| 109 | Pachygyria (HP:0001302) | 1.94434771 |
| 110 | Patellar aplasia (HP:0006443) | 1.94207240 |
| 111 | Fibular hypoplasia (HP:0003038) | 1.94204398 |
| 112 | Tracheomalacia (HP:0002779) | 1.93960234 |
| 113 | Occipital encephalocele (HP:0002085) | 1.93678449 |
| 114 | Genital tract atresia (HP:0001827) | 1.93541710 |
| 115 | Lymphangioma (HP:0100764) | 1.93239328 |
| 116 | Action tremor (HP:0002345) | 1.92910275 |
| 117 | Gastroesophageal reflux (HP:0002020) | 1.92906726 |
| 118 | Neoplasm of the oral cavity (HP:0100649) | 1.92821214 |
| 119 | Megalencephaly (HP:0001355) | 1.92359226 |
| 120 | Abnormal respiratory motile cilium physiology (HP:0012261) | 1.91765423 |
| 121 | Corneal dystrophy (HP:0001131) | 1.91603208 |
| 122 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 1.91302340 |
| 123 | Absent/shortened dynein arms (HP:0200106) | 1.91302340 |
| 124 | Gait imbalance (HP:0002141) | 1.90974987 |
| 125 | Optic disc pallor (HP:0000543) | 1.90754693 |
| 126 | Abnormality of the lacrimal duct (HP:0011481) | 1.90579510 |
| 127 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 1.89229153 |
| 128 | Steppage gait (HP:0003376) | 1.88858077 |
| 129 | Congenital hepatic fibrosis (HP:0002612) | 1.88140668 |
| 130 | Postaxial foot polydactyly (HP:0001830) | 1.87800996 |
| 131 | Abnormality of the renal cortex (HP:0011035) | 1.86217141 |
| 132 | Congenital sensorineural hearing impairment (HP:0008527) | 1.86181358 |
| 133 | Stage 5 chronic kidney disease (HP:0003774) | 1.85797464 |
| 134 | Facial hemangioma (HP:0000329) | 1.85111329 |
| 135 | Abnormal biliary tract physiology (HP:0012439) | 1.85063287 |
| 136 | Bile duct proliferation (HP:0001408) | 1.85063287 |
| 137 | Abnormality of the pubic bones (HP:0003172) | 1.84880330 |
| 138 | Narrow nasal bridge (HP:0000446) | 1.84584817 |
| 139 | Adrenal hypoplasia (HP:0000835) | 1.84446226 |
| 140 | Abnormality of the ischium (HP:0003174) | 1.84350910 |
| 141 | Renal dysplasia (HP:0000110) | 1.83857849 |
| 142 | Myelomeningocele (HP:0002475) | 1.83841070 |
| 143 | Poor eye contact (HP:0000817) | 1.83502184 |
| 144 | Intellectual disability, moderate (HP:0002342) | 1.83271027 |
| 145 | Gastrointestinal atresia (HP:0002589) | 1.83182428 |
| 146 | Atrial fibrillation (HP:0005110) | 1.82252700 |
| 147 | Overgrowth (HP:0001548) | 1.81944521 |
| 148 | Broad metatarsal (HP:0001783) | 1.81583347 |
| 149 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 1.81025975 |
| 150 | Abnormality of the metopic suture (HP:0005556) | 1.80925014 |
| 151 | Dandy-Walker malformation (HP:0001305) | 1.80511722 |
| 152 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.79442527 |
| 153 | Vaginal atresia (HP:0000148) | 1.79045370 |
| 154 | Pancreatic fibrosis (HP:0100732) | 1.78671103 |
| 155 | Submucous cleft hard palate (HP:0000176) | 1.78237254 |
| 156 | Attenuation of retinal blood vessels (HP:0007843) | 1.76972349 |
| 157 | Aplasia/Hypoplasia of the patella (HP:0006498) | 1.76640765 |
| 158 | Epileptic encephalopathy (HP:0200134) | 1.75669270 |
| 159 | Ependymoma (HP:0002888) | 1.75075570 |
| 160 | Type II lissencephaly (HP:0007260) | 1.73770289 |
| 161 | Gaze-evoked nystagmus (HP:0000640) | 1.73708516 |
| 162 | Limb dystonia (HP:0002451) | 1.73616485 |
| 163 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.73234654 |
| 164 | Morphological abnormality of the middle ear (HP:0008609) | 1.72973886 |
| 165 | Pendular nystagmus (HP:0012043) | 1.72368881 |
| 166 | Microglossia (HP:0000171) | 1.72345755 |
| 167 | Abnormal rod and cone electroretinograms (HP:0008323) | 1.70837846 |
| 168 | Wide anterior fontanel (HP:0000260) | 1.70530981 |
| 169 | Decreased lacrimation (HP:0000633) | 1.69554118 |
| 170 | Dyskinesia (HP:0100660) | 1.69069244 |
| 171 | Small hand (HP:0200055) | 1.68706141 |
| 172 | Hypoplastic ischia (HP:0003175) | 1.67346942 |
| 173 | Preaxial hand polydactyly (HP:0001177) | 1.67303366 |
| 174 | Intellectual disability, progressive (HP:0006887) | 1.66264151 |
| 175 | Oligodactyly (HP:0012165) | 1.65979311 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | CASK | 7.27951379 |
| 2 | MKNK2 | 4.40361228 |
| 3 | TNIK | 3.85022154 |
| 4 | FRK | 3.71984730 |
| 5 | WNK3 | 3.65987140 |
| 6 | MUSK | 3.47979888 |
| 7 | PRPF4B | 3.02505906 |
| 8 | EPHA3 | 2.69742673 |
| 9 | PNCK | 2.55114798 |
| 10 | MKNK1 | 2.54541482 |
| 11 | TLK1 | 2.48183344 |
| 12 | YES1 | 2.12702943 |
| 13 | PHKG2 | 1.85536934 |
| 14 | PHKG1 | 1.85536934 |
| 15 | MAPK13 | 1.81108734 |
| 16 | MAP2K7 | 1.66413873 |
| 17 | CCNB1 | 1.64802418 |
| 18 | TRIM28 | 1.64328022 |
| 19 | EPHA4 | 1.48842019 |
| 20 | INSRR | 1.48228274 |
| 21 | MAP4K2 | 1.42457231 |
| 22 | WEE1 | 1.34729457 |
| 23 | IRAK1 | 1.31051506 |
| 24 | SGK2 | 1.30923368 |
| 25 | FGFR2 | 1.29773744 |
| 26 | STK16 | 1.27909799 |
| 27 | NLK | 1.25943291 |
| 28 | EPHB2 | 1.25865019 |
| 29 | MARK1 | 1.22155320 |
| 30 | LATS1 | 1.18867423 |
| 31 | ZAK | 1.17752880 |
| 32 | EIF2AK2 | 1.15321316 |
| 33 | PAK3 | 1.13933714 |
| 34 | PKN1 | 1.13222529 |
| 35 | SGK223 | 1.11842952 |
| 36 | SGK494 | 1.11842952 |
| 37 | NTRK3 | 1.06107902 |
| 38 | IRAK2 | 1.04918516 |
| 39 | BRSK2 | 1.04808099 |
| 40 | FER | 1.01365103 |
| 41 | DYRK1A | 0.99622674 |
| 42 | STK39 | 0.93196935 |
| 43 | CDK3 | 0.93112089 |
| 44 | UHMK1 | 0.92371662 |
| 45 | AKT3 | 0.92299655 |
| 46 | CSNK1G2 | 0.92278940 |
| 47 | LMTK2 | 0.91188128 |
| 48 | DYRK2 | 0.90869059 |
| 49 | SIK2 | 0.90777413 |
| 50 | CAMK1G | 0.90679578 |
| 51 | SRPK1 | 0.89359257 |
| 52 | PLK4 | 0.89312622 |
| 53 | NEK6 | 0.87589375 |
| 54 | FES | 0.85415039 |
| 55 | GRK7 | 0.84197882 |
| 56 | BMPR2 | 0.77440156 |
| 57 | CAMKK2 | 0.77304668 |
| 58 | PRKCZ | 0.76619785 |
| 59 | PRKCE | 0.76377046 |
| 60 | CAMK4 | 0.76302046 |
| 61 | PRKD3 | 0.76275142 |
| 62 | MAPK15 | 0.75447599 |
| 63 | CDK8 | 0.74924073 |
| 64 | ROCK1 | 0.74456860 |
| 65 | PLK3 | 0.73133081 |
| 66 | BMPR1B | 0.72594847 |
| 67 | ERBB3 | 0.72177313 |
| 68 | PLK2 | 0.72081756 |
| 69 | TIE1 | 0.71508374 |
| 70 | PRKD2 | 0.71268383 |
| 71 | CSNK1G3 | 0.70573057 |
| 72 | ADRBK2 | 0.67689664 |
| 73 | PIK3CA | 0.66782536 |
| 74 | CSNK1A1L | 0.66590105 |
| 75 | CAMK2A | 0.65995866 |
| 76 | TAOK1 | 0.65258577 |
| 77 | CAMK1 | 0.64302150 |
| 78 | BUB1 | 0.64068855 |
| 79 | CDK19 | 0.63868566 |
| 80 | OXSR1 | 0.62234342 |
| 81 | TAOK2 | 0.61914507 |
| 82 | NUAK1 | 0.61668441 |
| 83 | CAMK2B | 0.60051404 |
| 84 | ROCK2 | 0.59903606 |
| 85 | CSNK1D | 0.59495861 |
| 86 | STK38L | 0.58866645 |
| 87 | MYLK | 0.56962360 |
| 88 | CAMK2D | 0.55023855 |
| 89 | SGK3 | 0.54895830 |
| 90 | ILK | 0.54577786 |
| 91 | WNK1 | 0.54406217 |
| 92 | PRKG1 | 0.53704265 |
| 93 | NTRK2 | 0.51113132 |
| 94 | CAMK2G | 0.50544392 |
| 95 | CLK1 | 0.49888421 |
| 96 | MAP3K4 | 0.49711853 |
| 97 | PINK1 | 0.49643825 |
| 98 | IRAK4 | 0.48451236 |
| 99 | PRKCG | 0.46628567 |
| 100 | GRK1 | 0.45403311 |
| 101 | VRK1 | 0.45344542 |
| 102 | ADRBK1 | 0.45061961 |
| 103 | BCR | 0.44019344 |
| 104 | NEK9 | 0.43650948 |
| 105 | OBSCN | 0.43578653 |
| 106 | DMPK | 0.43042367 |
| 107 | MARK2 | 0.42690727 |
| 108 | STK24 | 0.42621278 |
| 109 | PTK2B | 0.41387727 |
| 110 | MINK1 | 0.41317067 |
| 111 | PAK6 | 0.41201198 |
| 112 | STK11 | 0.39833748 |
| 113 | CSNK1G1 | 0.39615608 |
| 114 | PRKACA | 0.38649749 |
| 115 | MAPK4 | 0.37803253 |
| 116 | SIK3 | 0.37791328 |
| 117 | ATM | 0.37479767 |
| 118 | TNK2 | 0.37205308 |
| 119 | WNK4 | 0.36877038 |
| 120 | * MAPK8 | 0.36819198 |
| 121 | PRKAA2 | 0.36465344 |
| 122 | CDK5 | 0.35296700 |
| 123 | TGFBR1 | 0.34617232 |
| 124 | STK3 | 0.34030298 |
| 125 | RPS6KB1 | 0.33592150 |
| 126 | HIPK2 | 0.32527920 |
| 127 | ERBB2 | 0.32150334 |
| 128 | PLK1 | 0.32124429 |
| 129 | RAF1 | 0.32042057 |
| 130 | KSR1 | 0.31599201 |
| 131 | PRKAA1 | 0.31278249 |
| 132 | TGFBR2 | 0.31244688 |
| 133 | EIF2AK3 | 0.29785098 |
| 134 | GSK3A | 0.29240313 |
| 135 | IRAK3 | 0.28909776 |
| 136 | MAP3K7 | 0.28694633 |
| 137 | ERBB4 | 0.27397824 |
| 138 | SGK1 | 0.26398617 |
| 139 | CSNK1A1 | 0.26143450 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 3.67480386 |
| 2 | Nicotine addiction_Homo sapiens_hsa05033 | 3.48617086 |
| 3 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.17905126 |
| 4 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 2.63603356 |
| 5 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 2.61884849 |
| 6 | Fatty acid elongation_Homo sapiens_hsa00062 | 2.42546354 |
| 7 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 2.13287547 |
| 8 | Axon guidance_Homo sapiens_hsa04360 | 2.02706534 |
| 9 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.98825751 |
| 10 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.93267713 |
| 11 | Phototransduction_Homo sapiens_hsa04744 | 1.88812688 |
| 12 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.85632124 |
| 13 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.85256698 |
| 14 | Morphine addiction_Homo sapiens_hsa05032 | 1.78519575 |
| 15 | GABAergic synapse_Homo sapiens_hsa04727 | 1.74174360 |
| 16 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.71867005 |
| 17 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.70948032 |
| 18 | Basal cell carcinoma_Homo sapiens_hsa05217 | 1.68797874 |
| 19 | Taste transduction_Homo sapiens_hsa04742 | 1.58335179 |
| 20 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.49718643 |
| 21 | Circadian entrainment_Homo sapiens_hsa04713 | 1.45583110 |
| 22 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.44765431 |
| 23 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.43980694 |
| 24 | Wnt signaling pathway_Homo sapiens_hsa04310 | 1.42431362 |
| 25 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 1.38518564 |
| 26 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 1.37295626 |
| 27 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.35704777 |
| 28 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.31891773 |
| 29 | Circadian rhythm_Homo sapiens_hsa04710 | 1.31804565 |
| 30 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.30020921 |
| 31 | Basal transcription factors_Homo sapiens_hsa03022 | 1.28226500 |
| 32 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.25979340 |
| 33 | Renin secretion_Homo sapiens_hsa04924 | 1.24039470 |
| 34 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.23771845 |
| 35 | Long-term depression_Homo sapiens_hsa04730 | 1.22748403 |
| 36 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 1.20312528 |
| 37 | Olfactory transduction_Homo sapiens_hsa04740 | 1.17752193 |
| 38 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 1.17543255 |
| 39 | Cholinergic synapse_Homo sapiens_hsa04725 | 1.15749837 |
| 40 | Melanogenesis_Homo sapiens_hsa04916 | 1.15000570 |
| 41 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.12339558 |
| 42 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 1.10402987 |
| 43 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 1.10192196 |
| 44 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.09490556 |
| 45 | ABC transporters_Homo sapiens_hsa02010 | 1.05546498 |
| 46 | Melanoma_Homo sapiens_hsa05218 | 1.03843147 |
| 47 | Retinol metabolism_Homo sapiens_hsa00830 | 1.03665040 |
| 48 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.03522262 |
| 49 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.03398182 |
| 50 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.03245807 |
| 51 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.99881745 |
| 52 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.98745806 |
| 53 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.97560662 |
| 54 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.97557249 |
| 55 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.95923514 |
| 56 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.94133912 |
| 57 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.91992732 |
| 58 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.89407160 |
| 59 | Alzheimers disease_Homo sapiens_hsa05010 | 0.88971825 |
| 60 | Protein export_Homo sapiens_hsa03060 | 0.88093212 |
| 61 | Salivary secretion_Homo sapiens_hsa04970 | 0.85845568 |
| 62 | Lysine degradation_Homo sapiens_hsa00310 | 0.85625726 |
| 63 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.85327644 |
| 64 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.82305782 |
| 65 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.82048895 |
| 66 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.81639467 |
| 67 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.79178702 |
| 68 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.78413277 |
| 69 | Insulin secretion_Homo sapiens_hsa04911 | 0.77818245 |
| 70 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.77449828 |
| 71 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.77039303 |
| 72 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.75021722 |
| 73 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.74127963 |
| 74 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.73932906 |
| 75 | Prostate cancer_Homo sapiens_hsa05215 | 0.73179473 |
| 76 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.73029664 |
| 77 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.70471613 |
| 78 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.69686255 |
| 79 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.68228607 |
| 80 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.67801453 |
| 81 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.67406764 |
| 82 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.66509509 |
| 83 | Homologous recombination_Homo sapiens_hsa03440 | 0.64082393 |
| 84 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.62134811 |
| 85 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.61516385 |
| 86 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.61448825 |
| 87 | Gap junction_Homo sapiens_hsa04540 | 0.59891363 |
| 88 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.59575609 |
| 89 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.59319477 |
| 90 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.58430439 |
| 91 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.58071641 |
| 92 | Malaria_Homo sapiens_hsa05144 | 0.57746669 |
| 93 | Long-term potentiation_Homo sapiens_hsa04720 | 0.55937076 |
| 94 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.55439681 |
| 95 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.53317673 |
| 96 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.53028862 |
| 97 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.52476416 |
| 98 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.51534165 |
| 99 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.51208640 |
| 100 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.50913916 |
| 101 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.50856002 |
| 102 | Parkinsons disease_Homo sapiens_hsa05012 | 0.50832195 |
| 103 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.50752979 |
| 104 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.50101496 |
| 105 | Cocaine addiction_Homo sapiens_hsa05030 | 0.50036969 |
| 106 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.49638462 |
| 107 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.48000452 |
| 108 | Peroxisome_Homo sapiens_hsa04146 | 0.47367986 |
| 109 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.46901727 |
| 110 | Histidine metabolism_Homo sapiens_hsa00340 | 0.45867265 |
| 111 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.45865204 |
| 112 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.45683469 |
| 113 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.45603435 |
| 114 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.45521058 |
| 115 | Other glycan degradation_Homo sapiens_hsa00511 | 0.45231114 |
| 116 | Huntingtons disease_Homo sapiens_hsa05016 | 0.44977127 |
| 117 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.44890169 |
| 118 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.43738504 |
| 119 | Pathways in cancer_Homo sapiens_hsa05200 | 0.42645477 |
| 120 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.42526251 |
| 121 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.42474298 |
| 122 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.41953047 |
| 123 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.41659486 |
| 124 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.41170585 |
| 125 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.39914651 |
| 126 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.39878407 |
| 127 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.39875984 |
| 128 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.38428154 |
| 129 | Mineral absorption_Homo sapiens_hsa04978 | 0.38265824 |

