

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | L-amino acid import (GO:0043092) | 5.35669530 |
| 2 | positive regulation of synapse maturation (GO:0090129) | 5.20532672 |
| 3 | regulation of short-term neuronal synaptic plasticity (GO:0048172) | 5.02389584 |
| 4 | amino acid import (GO:0043090) | 4.86099491 |
| 5 | cerebellar granule cell differentiation (GO:0021707) | 4.61461229 |
| 6 | regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371) | 4.60579584 |
| 7 | synaptic vesicle docking involved in exocytosis (GO:0016081) | 4.47899281 |
| 8 | positive regulation of dendritic spine development (GO:0060999) | 4.46542104 |
| 9 | regulation of synaptic plasticity (GO:0048167) | 4.32689463 |
| 10 | synaptic vesicle maturation (GO:0016188) | 4.31721606 |
| 11 | positive regulation of dendritic spine morphogenesis (GO:0061003) | 4.31362067 |
| 12 | regulation of synapse structural plasticity (GO:0051823) | 4.28488975 |
| 13 | locomotory exploration behavior (GO:0035641) | 4.23726265 |
| 14 | positive regulation of neurotransmitter transport (GO:0051590) | 4.14488038 |
| 15 | regulation of synapse maturation (GO:0090128) | 4.14059656 |
| 16 | regulation of neurotransmitter levels (GO:0001505) | 4.11920667 |
| 17 | regulation of ARF protein signal transduction (GO:0032012) | 4.10907652 |
| 18 | embryonic camera-type eye morphogenesis (GO:0048596) | 4.06824053 |
| 19 | negative regulation of dendrite morphogenesis (GO:0050774) | 4.05652029 |
| 20 | axon ensheathment in central nervous system (GO:0032291) | 4.03700688 |
| 21 | central nervous system myelination (GO:0022010) | 4.03700688 |
| 22 | regulation of excitatory postsynaptic membrane potential (GO:0060079) | 4.01866148 |
| 23 | regulation of voltage-gated calcium channel activity (GO:1901385) | 4.00018424 |
| 24 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 3.98997702 |
| 25 | cytoskeletal anchoring at plasma membrane (GO:0007016) | 3.93819874 |
| 26 | chondrocyte proliferation (GO:0035988) | 3.88305545 |
| 27 | synaptic vesicle exocytosis (GO:0016079) | 3.88064621 |
| 28 | regulation of dendritic spine morphogenesis (GO:0061001) | 3.86603541 |
| 29 | negative regulation of synaptic transmission, GABAergic (GO:0032229) | 3.85412881 |
| 30 | positive regulation of calcium ion-dependent exocytosis (GO:0045956) | 3.85032125 |
| 31 | vocalization behavior (GO:0071625) | 3.83599984 |
| 32 | positive regulation of guanylate cyclase activity (GO:0031284) | 3.80180621 |
| 33 | protein retention in ER lumen (GO:0006621) | 3.79778396 |
| 34 | neurotransmitter-gated ion channel clustering (GO:0072578) | 3.79412283 |
| 35 | regulation of neurotransmitter transport (GO:0051588) | 3.77932566 |
| 36 | G-protein coupled acetylcholine receptor signaling pathway (GO:0007213) | 3.77392701 |
| 37 | layer formation in cerebral cortex (GO:0021819) | 3.73935479 |
| 38 | regulation of guanylate cyclase activity (GO:0031282) | 3.73782083 |
| 39 | dendritic spine morphogenesis (GO:0060997) | 3.72945493 |
| 40 | regulation of postsynaptic membrane potential (GO:0060078) | 3.71209185 |
| 41 | response to pheromone (GO:0019236) | 3.68171872 |
| 42 | somite development (GO:0061053) | 3.67180389 |
| 43 | positive regulation of prostaglandin secretion (GO:0032308) | 3.62254102 |
| 44 | cellular potassium ion homeostasis (GO:0030007) | 3.61087775 |
| 45 | positive regulation of excitatory postsynaptic membrane potential (GO:2000463) | 3.59809371 |
| 46 | regulation of dendritic spine development (GO:0060998) | 3.58918383 |
| 47 | regulation of synaptic vesicle exocytosis (GO:2000300) | 3.57777547 |
| 48 | regulation of vesicle fusion (GO:0031338) | 3.57211444 |
| 49 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 3.54779401 |
| 50 | long-term memory (GO:0007616) | 3.54755712 |
| 51 | cerebellar Purkinje cell differentiation (GO:0021702) | 3.50056756 |
| 52 | synaptic vesicle endocytosis (GO:0048488) | 3.45454816 |
| 53 | glycine transport (GO:0015816) | 3.43983046 |
| 54 | glutamate secretion (GO:0014047) | 3.42716509 |
| 55 | dendritic spine organization (GO:0097061) | 3.41404671 |
| 56 | acidic amino acid transport (GO:0015800) | 3.38785770 |
| 57 | activation of protein kinase A activity (GO:0034199) | 3.38640867 |
| 58 | auditory receptor cell differentiation (GO:0042491) | 3.34686226 |
| 59 | cell communication by electrical coupling involved in cardiac conduction (GO:0086064) | 3.33461309 |
| 60 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act | 3.32038745 |
| 61 | phosphorelay signal transduction system (GO:0000160) | 3.30713465 |
| 62 | regulation of synaptic transmission (GO:0050804) | 3.30237838 |
| 63 | positive regulation of dendrite development (GO:1900006) | 3.27044521 |
| 64 | chemosensory behavior (GO:0007635) | 3.24299780 |
| 65 | neurotransmitter secretion (GO:0007269) | 3.23978655 |
| 66 | cell migration in hindbrain (GO:0021535) | 3.23357366 |
| 67 | negative regulation of T cell differentiation in thymus (GO:0033085) | 3.22675497 |
| 68 | membrane depolarization (GO:0051899) | 3.21615299 |
| 69 | embryonic eye morphogenesis (GO:0048048) | 3.20135368 |
| 70 | regulation of glutamate receptor signaling pathway (GO:1900449) | 3.17448254 |
| 71 | gamma-aminobutyric acid signaling pathway (GO:0007214) | 3.17305108 |
| 72 | sodium ion export (GO:0071436) | 3.16807346 |
| 73 | vesicle docking involved in exocytosis (GO:0006904) | 3.14937218 |
| 74 | regulation of synaptic vesicle transport (GO:1902803) | 3.13284212 |
| 75 | dicarboxylic acid transport (GO:0006835) | 3.12664499 |
| 76 | regulation of exocytosis (GO:0017157) | 3.12329463 |
| 77 | regulation of prostaglandin secretion (GO:0032306) | 3.10078388 |
| 78 | membrane depolarization during cardiac muscle cell action potential (GO:0086012) | 3.09621361 |
| 79 | establishment of synaptic vesicle localization (GO:0097480) | 3.09466788 |
| 80 | synaptic vesicle transport (GO:0048489) | 3.09466788 |
| 81 | potassium ion homeostasis (GO:0055075) | 3.09281040 |
| 82 | positive regulation of icosanoid secretion (GO:0032305) | 3.08192403 |
| 83 | neuromuscular process (GO:0050905) | 3.07591255 |
| 84 | neuromuscular process controlling posture (GO:0050884) | 3.06745109 |
| 85 | regulation of dendrite morphogenesis (GO:0048814) | 3.04276198 |
| 86 | L-glutamate transport (GO:0015813) | 3.02009798 |
| 87 | synaptic transmission (GO:0007268) | 3.00643315 |
| 88 | ionotropic glutamate receptor signaling pathway (GO:0035235) | 2.98779036 |
| 89 | neurotransmitter uptake (GO:0001504) | 2.97293151 |
| 90 | neuromuscular synaptic transmission (GO:0007274) | 2.97057859 |
| 91 | negative regulation of alpha-beta T cell differentiation (GO:0046639) | 2.95314890 |
| 92 | regulation of calcium ion-dependent exocytosis (GO:0017158) | 2.94864601 |
| 93 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 2.93408466 |
| 94 | proline transport (GO:0015824) | 2.92456887 |
| 95 | cell communication by electrical coupling (GO:0010644) | 2.92147237 |
| 96 | regulation of neuronal synaptic plasticity (GO:0048168) | 2.90764954 |
| 97 | synaptic transmission, glutamatergic (GO:0035249) | 2.89830480 |
| 98 | sulfate transmembrane transport (GO:1902358) | 2.89258944 |
| 99 | gamma-aminobutyric acid transport (GO:0015812) | 2.87303053 |
| 100 | cellular sodium ion homeostasis (GO:0006883) | 2.85293620 |
| 101 | polyketide metabolic process (GO:0030638) | 2.83679681 |
| 102 | doxorubicin metabolic process (GO:0044598) | 2.83679681 |
| 103 | daunorubicin metabolic process (GO:0044597) | 2.83679681 |
| 104 | response to auditory stimulus (GO:0010996) | 2.81610407 |
| 105 | regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310) | 2.80666971 |
| 106 | exploration behavior (GO:0035640) | 2.76721785 |
| 107 | smooth muscle tissue development (GO:0048745) | 2.76545680 |
| 108 | positive regulation of synaptic transmission, GABAergic (GO:0032230) | 2.75515207 |
| 109 | positive regulation of fatty acid transport (GO:2000193) | 2.74518979 |
| 110 | membrane repolarization during cardiac muscle cell action potential (GO:0086013) | 2.73209881 |
| 111 | potassium ion import (GO:0010107) | 2.73120427 |
| 112 | neuronal action potential propagation (GO:0019227) | 2.70357333 |
| 113 | righting reflex (GO:0060013) | 2.68618407 |
| 114 | cerebellar Purkinje cell layer development (GO:0021680) | 2.66607350 |
| 115 | membrane hyperpolarization (GO:0060081) | 2.66582023 |
| 116 | long term synaptic depression (GO:0060292) | 2.65310493 |
| 117 | auditory behavior (GO:0031223) | 2.63639740 |
| 118 | neurotransmitter transport (GO:0006836) | 2.63577290 |
| 119 | insulin secretion (GO:0030073) | 2.61954994 |
| 120 | neuromuscular process controlling balance (GO:0050885) | 2.61287088 |
| 121 | cell communication involved in cardiac conduction (GO:0086065) | 2.61145413 |
| 122 | neuron cell-cell adhesion (GO:0007158) | 2.60634389 |
| 123 | postsynaptic membrane organization (GO:0001941) | 2.60213070 |
| 124 | protein localization to synapse (GO:0035418) | 2.59810428 |
| 125 | glutamate receptor signaling pathway (GO:0007215) | 2.59117459 |
| 126 | cardiac conduction (GO:0061337) | 2.58580303 |
| 127 | GDP-mannose metabolic process (GO:0019673) | 2.57267081 |
| 128 | transmission of nerve impulse (GO:0019226) | 2.57136378 |
| 129 | membrane depolarization during action potential (GO:0086010) | 2.56847555 |
| 130 | striatum development (GO:0021756) | 2.55106735 |
| 131 | auditory receptor cell stereocilium organization (GO:0060088) | 2.54179547 |
| 132 | N-glycan processing (GO:0006491) | 2.52985335 |
| 133 | neuronal ion channel clustering (GO:0045161) | 2.52434234 |
| 134 | positive regulation of T cell differentiation in thymus (GO:0033089) | 2.52427809 |
| 135 | regulation of neurotransmitter secretion (GO:0046928) | 2.52043689 |
| 136 | startle response (GO:0001964) | 2.51390654 |
| 137 | regulation of long-term neuronal synaptic plasticity (GO:0048169) | 2.50617660 |
| 138 | neuron-neuron synaptic transmission (GO:0007270) | 2.50351906 |
| 139 | innervation (GO:0060384) | 2.47394269 |
| 140 | vesicle transport along microtubule (GO:0047496) | 2.44528947 |
| 141 | positive regulation of neurotransmitter secretion (GO:0001956) | 2.43603229 |
| 142 | multicellular organismal signaling (GO:0035637) | 2.43582330 |
| 143 | membrane repolarization during action potential (GO:0086011) | 2.42239956 |
| 144 | negative regulation of cytosolic calcium ion concentration (GO:0051481) | 2.41741936 |
| 145 | retinal rod cell development (GO:0046548) | 2.41250191 |
| 146 | inner ear receptor cell differentiation (GO:0060113) | 2.41243617 |
| 147 | regulation of respiratory gaseous exchange by neurological system process (GO:0002087) | 2.40334202 |
| 148 | positive regulation of membrane potential (GO:0045838) | 2.40046935 |
| 149 | G-protein coupled glutamate receptor signaling pathway (GO:0007216) | 2.39240635 |
| 150 | detection of calcium ion (GO:0005513) | 2.38969613 |
| 151 | inner ear receptor cell development (GO:0060119) | 2.38026393 |
| 152 | retinal cone cell development (GO:0046549) | 2.36982950 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.19609058 |
| 2 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 3.26056172 |
| 3 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.88293337 |
| 4 | * DROSHA_22980978_ChIP-Seq_HELA_Human | 2.61118292 |
| 5 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 2.53641320 |
| 6 | IKZF1_21737484_ChIP-ChIP_HCT116_Human | 2.52472297 |
| 7 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 2.49960018 |
| 8 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 2.45139725 |
| 9 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 2.34803830 |
| 10 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 2.32999670 |
| 11 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 2.29769777 |
| 12 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 2.27065935 |
| 13 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 2.26450869 |
| 14 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 2.26450869 |
| 15 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 2.25965820 |
| 16 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 2.25669282 |
| 17 | REST_21632747_ChIP-Seq_MESCs_Mouse | 2.23616171 |
| 18 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 2.20794756 |
| 19 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 2.17625962 |
| 20 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 2.14267728 |
| 21 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 2.14143754 |
| 22 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 2.10950867 |
| 23 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 2.10327907 |
| 24 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 2.02681842 |
| 25 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 1.98850514 |
| 26 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.97006911 |
| 27 | KDM2B_26808549_Chip-Seq_SUP-B15_Human | 1.73449436 |
| 28 | RARB_27405468_Chip-Seq_BRAIN_Mouse | 1.69502991 |
| 29 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.69176773 |
| 30 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.68631123 |
| 31 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.63693942 |
| 32 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 1.63262004 |
| 33 | * SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.55055127 |
| 34 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 1.53756234 |
| 35 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.46067361 |
| 36 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.42830668 |
| 37 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.41497687 |
| 38 | RCOR2_21632747_ChIP-Seq_MESCs_Mouse | 1.41212697 |
| 39 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.39849680 |
| 40 | WT1_25993318_ChIP-Seq_PODOCYTE_Human | 1.39489055 |
| 41 | RING1B_27294783_Chip-Seq_ESCs_Mouse | 1.38253670 |
| 42 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.37705346 |
| 43 | VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human | 1.37045067 |
| 44 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.35553556 |
| 45 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.31661072 |
| 46 | * P68_20966046_ChIP-Seq_HELA_Human | 1.31346429 |
| 47 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.30374878 |
| 48 | CREB1_26743006_Chip-Seq_LNCaP_Human | 1.27709235 |
| 49 | KDM2B_26808549_Chip-Seq_DND41_Human | 1.27378207 |
| 50 | GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.26972794 |
| 51 | RING1B_27294783_Chip-Seq_NPCs_Mouse | 1.23803239 |
| 52 | KDM2B_26808549_Chip-Seq_K562_Human | 1.22089174 |
| 53 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.21529160 |
| 54 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 1.21281896 |
| 55 | SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.21058027 |
| 56 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.20579343 |
| 57 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.20405818 |
| 58 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.20090913 |
| 59 | * RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 1.19376757 |
| 60 | * OCT4_19829295_ChIP-Seq_ESCs_Human | 1.17887203 |
| 61 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 1.16151689 |
| 62 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.15570103 |
| 63 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.15130047 |
| 64 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 1.14011467 |
| 65 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 1.12960958 |
| 66 | AR_19668381_ChIP-Seq_PC3_Human | 1.12850136 |
| 67 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.10779876 |
| 68 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.10689991 |
| 69 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.09410354 |
| 70 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.05943762 |
| 71 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.05807187 |
| 72 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 1.05719042 |
| 73 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.04898028 |
| 74 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 1.04300090 |
| 75 | KLF4_19829295_ChIP-Seq_ESCs_Human | 1.02554020 |
| 76 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.02404526 |
| 77 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.00621663 |
| 78 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.00106950 |
| 79 | YAP1_20516196_ChIP-Seq_MESCs_Mouse | 0.99956318 |
| 80 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 0.99950637 |
| 81 | NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 0.99443504 |
| 82 | KDM2B_26808549_Chip-Seq_JURKAT_Human | 0.97937007 |
| 83 | STAT3_23295773_ChIP-Seq_U87_Human | 0.97358165 |
| 84 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 0.96813138 |
| 85 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 0.96106894 |
| 86 | * SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.95933420 |
| 87 | * DPY_21335234_ChIP-Seq_ESCs_Mouse | 0.95437878 |
| 88 | DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 0.95420629 |
| 89 | CTCF_27219007_Chip-Seq_Bcells_Human | 0.95379074 |
| 90 | EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 0.94258830 |
| 91 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 0.93917752 |
| 92 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 0.93386806 |
| 93 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 0.93229212 |
| 94 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 0.93083347 |
| 95 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 0.92573987 |
| 96 | KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 0.92408771 |
| 97 | * CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 0.92205017 |
| 98 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 0.91957873 |
| 99 | ZFP281_27345836_Chip-Seq_ESCs_Mouse | 0.91326609 |
| 100 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 0.91031201 |
| 101 | * TCF7_22412390_ChIP-Seq_EML_Mouse | 0.90849114 |
| 102 | AR_25329375_ChIP-Seq_VCAP_Human | 0.90828143 |
| 103 | TCF4_23295773_ChIP-Seq_U87_Human | 0.90556236 |
| 104 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 0.89101537 |
| 105 | MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human | 0.88653266 |
| 106 | * LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.88526435 |
| 107 | SMAD3_21741376_ChIP-Seq_HESCs_Human | 0.88236064 |
| 108 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 0.87976694 |
| 109 | SA1_27219007_Chip-Seq_Bcells_Human | 0.87923059 |
| 110 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 0.87901207 |
| 111 | SMAD4_21741376_ChIP-Seq_ESCs_Human | 0.87171834 |
| 112 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.86839814 |
| 113 | TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 0.85688464 |
| 114 | * CTCF_27219007_Chip-Seq_ERYTHROID_Human | 0.85289052 |
| 115 | RXR_22108803_ChIP-Seq_LS180_Human | 0.84721387 |
| 116 | TFAP2A_17053090_ChIP-ChIP_MCF-7_Human | 0.84564771 |
| 117 | TP53_20018659_ChIP-ChIP_R1E_Mouse | 0.84430167 |
| 118 | EGR1_19032775_ChIP-ChIP_M12_Human | 0.83525004 |
| 119 | OLIG2_26023283_ChIP-Seq_AINV15_Mouse | 0.83007228 |
| 120 | TP53_23651856_ChIP-Seq_MEFs_Mouse | 0.82985926 |
| 121 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.82313993 |
| 122 | GATA3_20176728_ChIP-ChIP_TSCs_Mouse | 0.82009956 |
| 123 | NR3C1_23031785_ChIP-Seq_PC12_Mouse | 0.81616543 |
| 124 | * TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.81544904 |
| 125 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.80945537 |
| 126 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 0.80945537 |
| 127 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 0.80931952 |
| 128 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.80532429 |
| 129 | * RACK7_27058665_Chip-Seq_MCF-7_Human | 0.80415195 |
| 130 | MYC_19915707_ChIP-ChIP_AK7_Human | 0.80386523 |
| 131 | LXR_22292898_ChIP-Seq_THP-1_Human | 0.80161252 |
| 132 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 0.80058012 |
| 133 | * SETDB1_19884255_ChIP-Seq_MESCs_Mouse | 0.79983609 |
| 134 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 0.79355106 |
| 135 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 0.79154236 |
| 136 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.78412567 |
| 137 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 0.78243705 |
| 138 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 0.77731075 |
| 139 | RNF2_27304074_Chip-Seq_NSC_Mouse | 0.77666740 |
| 140 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 0.77584132 |
| 141 | NACC1_18358816_ChIP-ChIP_MESCs_Mouse | 0.77417533 |
| 142 | SOX3_22085726_ChIP-Seq_NPCs_Mouse | 0.77327988 |
| 143 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 0.76830607 |
| 144 | RUNX2_22187159_ChIP-Seq_PCA_Human | 0.76729219 |
| 145 | P300_19829295_ChIP-Seq_ESCs_Human | 0.76451130 |
| 146 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 0.76004320 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003283_abnormal_digestive_organ | 7.19402647 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 6.50873399 |
| 3 | MP0003878_abnormal_ear_physiology | 6.50873399 |
| 4 | MP0002822_catalepsy | 6.24550894 |
| 5 | MP0003879_abnormal_hair_cell | 3.65752737 |
| 6 | MP0004859_abnormal_synaptic_plasticity | 3.24047236 |
| 7 | MP0001485_abnormal_pinna_reflex | 3.06037894 |
| 8 | MP0005167_abnormal_blood-brain_barrier | 2.77816349 |
| 9 | MP0003329_amyloid_beta_deposits | 2.62136402 |
| 10 | MP0002909_abnormal_adrenal_gland | 2.46552591 |
| 11 | MP0005645_abnormal_hypothalamus_physiol | 2.25926435 |
| 12 | MP0001486_abnormal_startle_reflex | 2.04656164 |
| 13 | MP0003690_abnormal_glial_cell | 2.02282965 |
| 14 | MP0003635_abnormal_synaptic_transmissio | 1.97703546 |
| 15 | MP0009780_abnormal_chondrocyte_physiolo | 1.91045444 |
| 16 | MP0009046_muscle_twitch | 1.76025149 |
| 17 | MP0000920_abnormal_myelination | 1.71301858 |
| 18 | MP0001963_abnormal_hearing_physiology | 1.66562683 |
| 19 | MP0009745_abnormal_behavioral_response | 1.62946069 |
| 20 | MP0002653_abnormal_ependyma_morphology | 1.62816205 |
| 21 | MP0005646_abnormal_pituitary_gland | 1.62232955 |
| 22 | MP0004043_abnormal_pH_regulation | 1.59628217 |
| 23 | MP0001984_abnormal_olfaction | 1.56833914 |
| 24 | MP0005423_abnormal_somatic_nervous | 1.56382598 |
| 25 | MP0002063_abnormal_learning/memory/cond | 1.53875524 |
| 26 | MP0001501_abnormal_sleep_pattern | 1.51218878 |
| 27 | MP0003123_paternal_imprinting | 1.50941131 |
| 28 | MP0000569_abnormal_digit_pigmentation | 1.48880664 |
| 29 | MP0002064_seizures | 1.47718182 |
| 30 | MP0001177_atelectasis | 1.46755489 |
| 31 | MP0002272_abnormal_nervous_system | 1.45938816 |
| 32 | MP0003880_abnormal_central_pattern | 1.45929549 |
| 33 | MP0004270_analgesia | 1.42539985 |
| 34 | MP0000026_abnormal_inner_ear | 1.42481948 |
| 35 | MP0003787_abnormal_imprinting | 1.42393670 |
| 36 | MP0002572_abnormal_emotion/affect_behav | 1.38034853 |
| 37 | MP0001968_abnormal_touch/_nociception | 1.31124198 |
| 38 | MP0010386_abnormal_urinary_bladder | 1.29663559 |
| 39 | MP0002557_abnormal_social/conspecific_i | 1.29538307 |
| 40 | MP0004858_abnormal_nervous_system | 1.29393807 |
| 41 | MP0000604_amyloidosis | 1.28010441 |
| 42 | MP0001502_abnormal_circadian_rhythm | 1.26823312 |
| 43 | MP0002734_abnormal_mechanical_nocicepti | 1.26643512 |
| 44 | MP0002067_abnormal_sensory_capabilities | 1.25075550 |
| 45 | MP0004885_abnormal_endolymph | 1.23776931 |
| 46 | MP0003941_abnormal_skin_development | 1.15594257 |
| 47 | MP0003634_abnormal_glial_cell | 1.15132836 |
| 48 | MP0003122_maternal_imprinting | 1.12076786 |
| 49 | MP0000678_abnormal_parathyroid_gland | 1.10100768 |
| 50 | MP0002184_abnormal_innervation | 1.09970167 |
| 51 | MP0006072_abnormal_retinal_apoptosis | 1.07238141 |
| 52 | MP0001905_abnormal_dopamine_level | 1.05552817 |
| 53 | MP0001970_abnormal_pain_threshold | 1.04551828 |
| 54 | MP0002735_abnormal_chemical_nociception | 1.03996939 |
| 55 | MP0004924_abnormal_behavior | 1.03891888 |
| 56 | MP0005386_behavior/neurological_phenoty | 1.03891888 |
| 57 | MP0002736_abnormal_nociception_after | 1.02405364 |
| 58 | MP0005551_abnormal_eye_electrophysiolog | 1.02235799 |
| 59 | MP0002733_abnormal_thermal_nociception | 1.01619377 |
| 60 | MP0003633_abnormal_nervous_system | 1.01250696 |
| 61 | MP0000462_abnormal_digestive_system | 1.00751138 |
| 62 | MP0002638_abnormal_pupillary_reflex | 1.00587684 |
| 63 | MP0008874_decreased_physiological_sensi | 1.00324940 |
| 64 | MP0003045_fibrosis | 0.99774295 |
| 65 | MP0003632_abnormal_nervous_system | 0.99591618 |
| 66 | MP0003172_abnormal_lysosome_physiology | 0.97524868 |
| 67 | MP0005394_taste/olfaction_phenotype | 0.95880847 |
| 68 | MP0005499_abnormal_olfactory_system | 0.95880847 |
| 69 | MP0001348_abnormal_lacrimal_gland | 0.95218715 |
| 70 | MP0002229_neurodegeneration | 0.93594674 |
| 71 | MP0002882_abnormal_neuron_morphology | 0.92940356 |
| 72 | MP0001944_abnormal_pancreas_morphology | 0.92239921 |
| 73 | MP0004742_abnormal_vestibular_system | 0.90960950 |
| 74 | MP0008569_lethality_at_weaning | 0.88136689 |
| 75 | MP0000955_abnormal_spinal_cord | 0.87947805 |
| 76 | MP0001440_abnormal_grooming_behavior | 0.86744689 |
| 77 | MP0001188_hyperpigmentation | 0.82212992 |
| 78 | MP0009278_abnormal_bone_marrow | 0.81771750 |
| 79 | MP0004811_abnormal_neuron_physiology | 0.81171454 |
| 80 | MP0001986_abnormal_taste_sensitivity | 0.80898925 |
| 81 | MP0002693_abnormal_pancreas_physiology | 0.79786199 |
| 82 | MP0000778_abnormal_nervous_system | 0.79722620 |
| 83 | MP0008789_abnormal_olfactory_epithelium | 0.78314645 |
| 84 | MP0002751_abnormal_autonomic_nervous | 0.74765326 |
| 85 | MP0004510_myositis | 0.74464292 |
| 86 | MP0005535_abnormal_body_temperature | 0.73833635 |
| 87 | MP0002066_abnormal_motor_capabilities/c | 0.73484359 |
| 88 | MP0004145_abnormal_muscle_electrophysio | 0.72808266 |
| 89 | MP0008877_abnormal_DNA_methylation | 0.72068910 |
| 90 | MP0008872_abnormal_physiological_respon | 0.71643764 |
| 91 | MP0005253_abnormal_eye_physiology | 0.70925856 |
| 92 | MP0002249_abnormal_larynx_morphology | 0.70610658 |
| 93 | MP0006276_abnormal_autonomic_nervous | 0.70605480 |
| 94 | MP0001765_abnormal_ion_homeostasis | 0.70475878 |
| 95 | MP0001346_abnormal_lacrimal_gland | 0.70145697 |
| 96 | MP0009384_cardiac_valve_regurgitation | 0.69971087 |
| 97 | MP0005409_darkened_coat_color | 0.69679859 |
| 98 | MP0003183_abnormal_peptide_metabolism | 0.66916999 |
| 99 | MP0002752_abnormal_somatic_nervous | 0.66528169 |
| 100 | MP0000631_abnormal_neuroendocrine_gland | 0.65827011 |
| 101 | MP0003938_abnormal_ear_development | 0.65216216 |
| 102 | MP0008961_abnormal_basal_metabolism | 0.64693156 |
| 103 | MP0000579_abnormal_nail_morphology | 0.64063881 |
| 104 | MP0000566_synostosis | 0.63586773 |
| 105 | MP0006292_abnormal_olfactory_placode | 0.63427968 |
| 106 | MP0003705_abnormal_hypodermis_morpholog | 0.62416892 |
| 107 | MP0005623_abnormal_meninges_morphology | 0.61656982 |
| 108 | MP0001299_abnormal_eye_distance/ | 0.61330607 |
| 109 | MP0000003_abnormal_adipose_tissue | 0.61228838 |
| 110 | MP0004142_abnormal_muscle_tone | 0.60549279 |
| 111 | MP0008260_abnormal_autophagy | 0.60366018 |
| 112 | MP0005310_abnormal_salivary_gland | 0.59671756 |
| 113 | MP0005220_abnormal_exocrine_pancreas | 0.59249633 |
| 114 | MP0003861_abnormal_nervous_system | 0.58743895 |
| 115 | MP0002009_preneoplasia | 0.57840830 |
| 116 | MP0000013_abnormal_adipose_tissue | 0.57536150 |
| 117 | MP0002089_abnormal_postnatal_growth/wei | 0.57510773 |
| 118 | MP0010769_abnormal_survival | 0.56758417 |
| 119 | MP0001666_abnormal_nutrient_absorption | 0.56577120 |
| 120 | MP0005171_absent_coat_pigmentation | 0.56353698 |
| 121 | MP0009672_abnormal_birth_weight | 0.55933119 |
| 122 | MP0003953_abnormal_hormone_level | 0.55026609 |
| 123 | MP0003137_abnormal_impulse_conducting | 0.54960022 |
| 124 | MP0002896_abnormal_bone_mineralization | 0.54095501 |
| 125 | MP0005166_decreased_susceptibility_to | 0.53832058 |
| 126 | MP0003075_altered_response_to | 0.53798003 |
| 127 | MP0002069_abnormal_eating/drinking_beha | 0.53374652 |
| 128 | MP0004130_abnormal_muscle_cell | 0.53273942 |
| 129 | MP0002873_normal_phenotype | 0.52998983 |
| 130 | MP0010768_mortality/aging | 0.52904291 |
| 131 | MP0003191_abnormal_cellular_cholesterol | 0.52088292 |
| 132 | MP0002169_no_abnormal_phenotype | 0.51623040 |
| 133 | MP0002152_abnormal_brain_morphology | 0.51587191 |
| 134 | MP0003631_nervous_system_phenotype | 0.51237940 |
| 135 | MP0010770_preweaning_lethality | 0.50687672 |
| 136 | MP0002082_postnatal_lethality | 0.50687672 |
| 137 | MP0004085_abnormal_heartbeat | 0.49336085 |
| 138 | MP0003956_abnormal_body_size | 0.48917307 |
| 139 | MP0001943_abnormal_respiration | 0.47451984 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Ankle clonus (HP:0011448) | 5.05410220 |
| 2 | Diplopia (HP:0000651) | 5.05283235 |
| 3 | Abnormality of binocular vision (HP:0011514) | 5.05283235 |
| 4 | Neurofibrillary tangles (HP:0002185) | 4.56129274 |
| 5 | Obstructive sleep apnea (HP:0002870) | 4.24169868 |
| 6 | Symphalangism affecting the phalanges of the hand (HP:0009773) | 4.18108719 |
| 7 | Focal motor seizures (HP:0011153) | 4.04865334 |
| 8 | Annular pancreas (HP:0001734) | 3.86461467 |
| 9 | Febrile seizures (HP:0002373) | 3.78758004 |
| 10 | Cerebral inclusion bodies (HP:0100314) | 3.74230325 |
| 11 | Spastic gait (HP:0002064) | 3.72218596 |
| 12 | Torticollis (HP:0000473) | 3.64950857 |
| 13 | Urinary bladder sphincter dysfunction (HP:0002839) | 3.63131660 |
| 14 | Abnormality of the middle phalanges of the toes (HP:0010183) | 3.54295511 |
| 15 | Elevated circulating parathyroid hormone (PTH) level (HP:0003165) | 3.46150589 |
| 16 | Papilledema (HP:0001085) | 3.41789045 |
| 17 | Dysmetria (HP:0001310) | 3.41177211 |
| 18 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 3.40822501 |
| 19 | Abnormality of the 1st metacarpal (HP:0010009) | 3.39634473 |
| 20 | Abnormality of the proximal phalanges of the hand (HP:0009834) | 3.36258298 |
| 21 | Impaired vibration sensation in the lower limbs (HP:0002166) | 3.32646980 |
| 22 | Neuronal loss in central nervous system (HP:0002529) | 3.31564355 |
| 23 | Abnormality of the distal phalanx of the thumb (HP:0009617) | 3.30784753 |
| 24 | Tetraplegia (HP:0002445) | 3.30167544 |
| 25 | Abnormal eating behavior (HP:0100738) | 3.28294556 |
| 26 | Mutism (HP:0002300) | 3.21175024 |
| 27 | Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173) | 3.20640654 |
| 28 | Short tibia (HP:0005736) | 3.19926272 |
| 29 | Relative macrocephaly (HP:0004482) | 3.19865248 |
| 30 | Epileptic encephalopathy (HP:0200134) | 3.18104178 |
| 31 | Truncal ataxia (HP:0002078) | 3.17570036 |
| 32 | Cupped ribs (HP:0000887) | 3.13637151 |
| 33 | Focal dystonia (HP:0004373) | 3.09759708 |
| 34 | Intention tremor (HP:0002080) | 3.08915014 |
| 35 | Delusions (HP:0000746) | 3.06168968 |
| 36 | Flared iliac wings (HP:0002869) | 3.04424933 |
| 37 | Depression (HP:0000716) | 3.02927356 |
| 38 | Unilateral renal agenesis (HP:0000122) | 2.98119200 |
| 39 | Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108) | 2.96108626 |
| 40 | Apathy (HP:0000741) | 2.93831737 |
| 41 | Status epilepticus (HP:0002133) | 2.92371697 |
| 42 | Cerebral hypomyelination (HP:0006808) | 2.90865530 |
| 43 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 2.89632841 |
| 44 | Insomnia (HP:0100785) | 2.87410159 |
| 45 | Focal seizures (HP:0007359) | 2.87038545 |
| 46 | Myokymia (HP:0002411) | 2.86993054 |
| 47 | Craniofacial dystonia (HP:0012179) | 2.85086641 |
| 48 | Abnormality of the phalanges of the hallux (HP:0010057) | 2.83722022 |
| 49 | Clonus (HP:0002169) | 2.82515116 |
| 50 | Broad palm (HP:0001169) | 2.81638133 |
| 51 | Bradykinesia (HP:0002067) | 2.81423471 |
| 52 | Urinary urgency (HP:0000012) | 2.80065654 |
| 53 | Limb dystonia (HP:0002451) | 2.79178495 |
| 54 | Hip dysplasia (HP:0001385) | 2.74479023 |
| 55 | Hemiplegia (HP:0002301) | 2.74174762 |
| 56 | Visual hallucinations (HP:0002367) | 2.73786355 |
| 57 | Bronchomalacia (HP:0002780) | 2.72968409 |
| 58 | Peripheral hypomyelination (HP:0007182) | 2.70492119 |
| 59 | Congenital sensorineural hearing impairment (HP:0008527) | 2.67324054 |
| 60 | Sleep apnea (HP:0010535) | 2.67138878 |
| 61 | Akinesia (HP:0002304) | 2.66167306 |
| 62 | Lower limb muscle weakness (HP:0007340) | 2.58035012 |
| 63 | Anxiety (HP:0000739) | 2.57079552 |
| 64 | Diminished motivation (HP:0000745) | 2.56750996 |
| 65 | Flat acetabular roof (HP:0003180) | 2.56179182 |
| 66 | Impaired smooth pursuit (HP:0007772) | 2.54488421 |
| 67 | Flat capital femoral epiphysis (HP:0003370) | 2.53152999 |
| 68 | Neonatal short-limb short stature (HP:0008921) | 2.52206057 |
| 69 | Short phalanx of the thumb (HP:0009660) | 2.51521316 |
| 70 | Short middle phalanx of finger (HP:0005819) | 2.50333106 |
| 71 | Amblyopia (HP:0000646) | 2.49038750 |
| 72 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.46379205 |
| 73 | Abnormality of the epiphyses of the phalanges of the hand (HP:0005920) | 2.46014482 |
| 74 | Aplasia involving bones of the upper limbs (HP:0009823) | 2.45834635 |
| 75 | Aplasia of the phalanges of the hand (HP:0009802) | 2.45834635 |
| 76 | Aplasia involving bones of the extremities (HP:0009825) | 2.45834635 |
| 77 | Prolonged QT interval (HP:0001657) | 2.45234907 |
| 78 | Aplasia/Hypoplasia involving the pelvis (HP:0009103) | 2.44182828 |
| 79 | Abnormal social behavior (HP:0012433) | 2.43134441 |
| 80 | Impaired social interactions (HP:0000735) | 2.43134441 |
| 81 | Short thorax (HP:0010306) | 2.42955602 |
| 82 | Stereotypic behavior (HP:0000733) | 2.42253233 |
| 83 | Atonic seizures (HP:0010819) | 2.41613958 |
| 84 | Rigidity (HP:0002063) | 2.40901284 |
| 85 | Lower limb amyotrophy (HP:0007210) | 2.40764474 |
| 86 | Abnormality of calcium-phosphate metabolism (HP:0100530) | 2.38754953 |
| 87 | Impaired vibratory sensation (HP:0002495) | 2.37083849 |
| 88 | Spinal canal stenosis (HP:0003416) | 2.34704254 |
| 89 | Abnormality of the 2nd finger (HP:0004100) | 2.32929980 |
| 90 | Spastic tetraparesis (HP:0001285) | 2.32573447 |
| 91 | Hypoplastic ischia (HP:0003175) | 2.31277811 |
| 92 | Dysdiadochokinesis (HP:0002075) | 2.28917215 |
| 93 | Bundle branch block (HP:0011710) | 2.26656054 |
| 94 | Retinal atrophy (HP:0001105) | 2.25452920 |
| 95 | Aplasia/hypoplasia of the femur (HP:0005613) | 2.24533290 |
| 96 | Turricephaly (HP:0000262) | 2.23529317 |
| 97 | Absence seizures (HP:0002121) | 2.22405911 |
| 98 | Abnormal EKG (HP:0003115) | 2.17989448 |
| 99 | Abnormality of ocular smooth pursuit (HP:0000617) | 2.15483951 |
| 100 | Spinal cord compression (HP:0002176) | 2.15350789 |
| 101 | Congenital stationary night blindness (HP:0007642) | 2.13968363 |
| 102 | Decreased circulating renin level (HP:0003351) | 2.13957146 |
| 103 | Shawl scrotum (HP:0000049) | 2.13674698 |
| 104 | Generalized tonic-clonic seizures (HP:0002069) | 2.12590183 |
| 105 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 2.12063944 |
| 106 | Scanning speech (HP:0002168) | 2.11636808 |
| 107 | Pointed chin (HP:0000307) | 2.10365260 |
| 108 | Abnormality of the lower motor neuron (HP:0002366) | 2.10297575 |
| 109 | Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658) | 2.09522038 |
| 110 | Action tremor (HP:0002345) | 2.09010942 |
| 111 | Flattened epiphyses (HP:0003071) | 2.08652869 |
| 112 | Abnormality of the epiphyses of the hand (HP:0005924) | 2.07213188 |
| 113 | Postural instability (HP:0002172) | 2.06984047 |
| 114 | Hemiparesis (HP:0001269) | 2.05044451 |
| 115 | Abnormality of polysaccharide metabolism (HP:0011012) | 2.04299219 |
| 116 | Abnormality of glycosaminoglycan metabolism (HP:0004371) | 2.04299219 |
| 117 | Abnormality of mucopolysaccharide metabolism (HP:0011020) | 2.04299219 |
| 118 | Ovoid vertebral bodies (HP:0003300) | 2.04276614 |
| 119 | Rapidly progressive (HP:0003678) | 2.04245464 |
| 120 | Hypoplastic ilia (HP:0000946) | 2.04175568 |
| 121 | Thickened helices (HP:0000391) | 2.04113355 |
| 122 | Choreoathetosis (HP:0001266) | 2.04094783 |
| 123 | Abnormality of the femoral head (HP:0003368) | 2.03380321 |
| 124 | Megalencephaly (HP:0001355) | 2.02086728 |
| 125 | Hyperparathyroidism (HP:0000843) | 2.02076123 |
| 126 | Upper limb amyotrophy (HP:0009129) | 2.01976224 |
| 127 | Distal upper limb amyotrophy (HP:0007149) | 2.01976224 |
| 128 | Heart block (HP:0012722) | 2.01754219 |
| 129 | Hypoplastic iliac wings (HP:0002866) | 2.00827651 |
| 130 | Hip contracture (HP:0003273) | 2.00609937 |
| 131 | Supranuclear gaze palsy (HP:0000605) | 2.00407924 |
| 132 | Absent phalangeal crease (HP:0006109) | 2.00379255 |
| 133 | Progressive cerebellar ataxia (HP:0002073) | 1.99798759 |
| 134 | Hypoplasia of the ulna (HP:0003022) | 1.98940616 |
| 135 | Dementia (HP:0000726) | 1.98198719 |
| 136 | Lower limb asymmetry (HP:0100559) | 1.98160733 |
| 137 | Ventricular fibrillation (HP:0001663) | 1.97952127 |
| 138 | Abnormality of the ischium (HP:0003174) | 1.97691583 |
| 139 | Bradycardia (HP:0001662) | 1.96879666 |
| 140 | Abnormal vertebral ossification (HP:0100569) | 1.94640988 |
| 141 | Dialeptic seizures (HP:0011146) | 1.93780983 |
| 142 | Dysmetric saccades (HP:0000641) | 1.93497767 |
| 143 | Intestinal fistula (HP:0100819) | 1.93350363 |
| 144 | Abnormality of carpal bone ossification (HP:0006257) | 1.92355467 |
| 145 | Split foot (HP:0001839) | 1.92144766 |
| 146 | Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843) | 1.91646034 |
| 147 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.91244900 |
| 148 | Abnormality of femoral epiphyses (HP:0006499) | 1.91244900 |
| 149 | Abnormality of saccadic eye movements (HP:0000570) | 1.91104572 |
| 150 | Abnormal finger flexion creases (HP:0006143) | 1.91083905 |
| 151 | Rectovaginal fistula (HP:0000143) | 1.90387210 |
| 152 | Rectal fistula (HP:0100590) | 1.90387210 |
| 153 | Abnormality of renin-angiotensin system (HP:0000847) | 1.90138920 |
| 154 | Short femoral neck (HP:0100864) | 1.88782065 |
| 155 | Incomplete penetrance (HP:0003829) | 1.88688577 |
| 156 | Urinary glycosaminoglycan excretion (HP:0003541) | 1.87461194 |
| 157 | Mucopolysacchariduria (HP:0008155) | 1.87461194 |
| 158 | Increased circulating renin level (HP:0000848) | 1.86405068 |
| 159 | Agitation (HP:0000713) | 1.84734930 |
| 160 | Lumbar hyperlordosis (HP:0002938) | 1.84264597 |
| 161 | Abnormal atrioventricular conduction (HP:0005150) | 1.83806226 |
| 162 | EEG with generalized epileptiform discharges (HP:0011198) | 1.83562504 |
| 163 | Abnormality involving the epiphyses of the upper limbs (HP:0003839) | 1.83561337 |
| 164 | Syncope (HP:0001279) | 1.82949667 |
| 165 | Epileptiform EEG discharges (HP:0011182) | 1.82574336 |
| 166 | Hand muscle atrophy (HP:0009130) | 1.81452856 |
| 167 | Slow saccadic eye movements (HP:0000514) | 1.81272653 |
| 168 | Hyperacusis (HP:0010780) | 1.81142279 |
| 169 | Vertebral clefting (HP:0008428) | 1.81065434 |
| 170 | Genetic anticipation (HP:0003743) | 1.80024456 |
| 171 | Short humerus (HP:0005792) | 1.79787907 |
| 172 | Micromelia (HP:0002983) | 1.78046156 |
| 173 | Aplasia/Hypoplasia of the vertebrae (HP:0008515) | 1.77695477 |
| 174 | Vertebral hypoplasia (HP:0008417) | 1.77695477 |
| 175 | Hypercortisolism (HP:0001578) | 1.77505233 |
| 176 | Hypsarrhythmia (HP:0002521) | 1.76890779 |
| 177 | Poor eye contact (HP:0000817) | 1.76845457 |
| 178 | Abnormality of the middle phalanges of the hand (HP:0009833) | 1.75586513 |
| 179 | Atrioventricular block (HP:0001678) | 1.74899142 |
| 180 | CNS hypomyelination (HP:0003429) | 1.74495519 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MST1R | 5.26235330 |
| 2 | MAP3K12 | 3.63706249 |
| 3 | NTRK3 | 3.58130853 |
| 4 | PIK3CA | 3.17539787 |
| 5 | MAP3K4 | 2.97008227 |
| 6 | DDR2 | 2.74899625 |
| 7 | INSRR | 2.58001982 |
| 8 | MAPK15 | 2.56374868 |
| 9 | TNIK | 2.43732553 |
| 10 | MAP3K9 | 2.19999819 |
| 11 | AKT3 | 1.91676789 |
| 12 | EPHA4 | 1.82344880 |
| 13 | PLK2 | 1.79927705 |
| 14 | CDK19 | 1.76712883 |
| 15 | RIPK4 | 1.75759413 |
| 16 | MAP2K7 | 1.75543974 |
| 17 | LATS2 | 1.71063979 |
| 18 | ARAF | 1.68585034 |
| 19 | MET | 1.68243515 |
| 20 | DAPK2 | 1.63113586 |
| 21 | MAP2K4 | 1.57348724 |
| 22 | IRAK3 | 1.53012414 |
| 23 | NTRK2 | 1.48833612 |
| 24 | SIK2 | 1.46961561 |
| 25 | TYRO3 | 1.45093892 |
| 26 | CASK | 1.41174205 |
| 27 | MARK1 | 1.38926919 |
| 28 | STK38 | 1.36858342 |
| 29 | UHMK1 | 1.36103744 |
| 30 | PINK1 | 1.34216426 |
| 31 | WNK4 | 1.26785747 |
| 32 | NTRK1 | 1.25501460 |
| 33 | PRKD3 | 1.25094601 |
| 34 | TNK2 | 1.19548133 |
| 35 | WNK1 | 1.15971733 |
| 36 | MAP3K1 | 1.13299180 |
| 37 | CDC42BPA | 1.12726093 |
| 38 | CDK15 | 1.11386823 |
| 39 | CAMKK1 | 1.08272418 |
| 40 | PRKCH | 1.07654962 |
| 41 | DAPK1 | 1.06439123 |
| 42 | CDK11A | 1.06185615 |
| 43 | CDK18 | 1.05963026 |
| 44 | MINK1 | 1.05817472 |
| 45 | CAMK1 | 1.02461972 |
| 46 | YES1 | 1.02175081 |
| 47 | MAP2K2 | 0.94421705 |
| 48 | MAPK12 | 0.91975947 |
| 49 | CDK5 | 0.91878924 |
| 50 | CDK14 | 0.90685165 |
| 51 | ERBB3 | 0.89502373 |
| 52 | CAMK2D | 0.88284172 |
| 53 | MAPK13 | 0.87508180 |
| 54 | PHKG2 | 0.87023237 |
| 55 | PHKG1 | 0.87023237 |
| 56 | PAK6 | 0.86102564 |
| 57 | MAP3K11 | 0.84582960 |
| 58 | HIPK2 | 0.83375957 |
| 59 | SGK2 | 0.80390920 |
| 60 | GRK5 | 0.79093160 |
| 61 | WNK3 | 0.79041977 |
| 62 | FGFR2 | 0.78186226 |
| 63 | PAK3 | 0.77895609 |
| 64 | BRSK1 | 0.77770716 |
| 65 | PRKD2 | 0.76977032 |
| 66 | PDK1 | 0.76279384 |
| 67 | MAP3K2 | 0.75873485 |
| 68 | SGK1 | 0.74840771 |
| 69 | PDPK1 | 0.71960211 |
| 70 | CAMKK2 | 0.71852097 |
| 71 | SIK3 | 0.69865755 |
| 72 | TRIB3 | 0.69692793 |
| 73 | PRKCE | 0.69403505 |
| 74 | RIPK1 | 0.68407156 |
| 75 | BRAF | 0.68397477 |
| 76 | MATK | 0.67800674 |
| 77 | ICK | 0.66955573 |
| 78 | CAMK1G | 0.66813939 |
| 79 | BMPR2 | 0.65538451 |
| 80 | SGK494 | 0.65493483 |
| 81 | SGK223 | 0.65493483 |
| 82 | CAMK1D | 0.65266075 |
| 83 | SGK3 | 0.63956038 |
| 84 | ALK | 0.63862431 |
| 85 | PRKCG | 0.63805715 |
| 86 | PKN1 | 0.63278668 |
| 87 | PRKG2 | 0.59608189 |
| 88 | CDK3 | 0.59355084 |
| 89 | PRPF4B | 0.58713394 |
| 90 | BMX | 0.57386393 |
| 91 | OXSR1 | 0.55926660 |
| 92 | TAOK3 | 0.55505275 |
| 93 | MAP2K6 | 0.55175198 |
| 94 | CAMK2A | 0.55028188 |
| 95 | IRAK2 | 0.52769140 |
| 96 | MARK2 | 0.52751859 |
| 97 | FER | 0.51759773 |
| 98 | LMTK2 | 0.50671452 |
| 99 | PRKCZ | 0.48922976 |
| 100 | NEK6 | 0.48631664 |
| 101 | MAP3K13 | 0.48292475 |
| 102 | DYRK1B | 0.46618953 |
| 103 | MAP2K1 | 0.46558616 |
| 104 | CAMK4 | 0.45600700 |
| 105 | KSR2 | 0.44917365 |
| 106 | ERBB2 | 0.44804696 |
| 107 | CAMK2G | 0.43308404 |
| 108 | TESK1 | 0.42870307 |
| 109 | CAMK2B | 0.42285340 |
| 110 | RPS6KB1 | 0.41647041 |
| 111 | BRD4 | 0.41557905 |
| 112 | GRK1 | 0.40123213 |
| 113 | FYN | 0.38530874 |
| 114 | MAPK8 | 0.38481615 |
| 115 | STK11 | 0.38353423 |
| 116 | LIMK1 | 0.37041623 |
| 117 | EEF2K | 0.36520539 |
| 118 | RPS6KA3 | 0.35356836 |
| 119 | ROCK2 | 0.34921272 |
| 120 | DAPK3 | 0.34568012 |
| 121 | TAOK1 | 0.33223874 |
| 122 | PDGFRA | 0.32760432 |
| 123 | SMG1 | 0.32604210 |
| 124 | MAP3K7 | 0.32602824 |
| 125 | MAPK10 | 0.32472165 |
| 126 | GSK3B | 0.32379485 |
| 127 | FRK | 0.32191857 |
| 128 | TRPM7 | 0.32078239 |
| 129 | SIK1 | 0.31652537 |
| 130 | RPS6KA2 | 0.31458149 |
| 131 | DYRK1A | 0.30853928 |
| 132 | PRKCA | 0.30023444 |
| 133 | MAP3K6 | 0.29598071 |
| 134 | FES | 0.28469085 |
| 135 | ROCK1 | 0.26132721 |
| 136 | SRC | 0.25158927 |
| 137 | RET | 0.25131761 |
| 138 | MAPK7 | 0.23551941 |
| 139 | CSNK1E | 0.23031000 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Sulfur metabolism_Homo sapiens_hsa00920 | 4.51039234 |
| 2 | Sulfur relay system_Homo sapiens_hsa04122 | 3.55855887 |
| 3 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 2.62315384 |
| 4 | Nicotine addiction_Homo sapiens_hsa05033 | 2.60825581 |
| 5 | Insulin secretion_Homo sapiens_hsa04911 | 2.42455452 |
| 6 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 2.17567009 |
| 7 | Olfactory transduction_Homo sapiens_hsa04740 | 2.02639543 |
| 8 | GABAergic synapse_Homo sapiens_hsa04727 | 2.01656982 |
| 9 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.97549394 |
| 10 | Pancreatic secretion_Homo sapiens_hsa04972 | 1.96572448 |
| 11 | Circadian entrainment_Homo sapiens_hsa04713 | 1.91946518 |
| 12 | Morphine addiction_Homo sapiens_hsa05032 | 1.91227308 |
| 13 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.86217989 |
| 14 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.84763969 |
| 15 | Taste transduction_Homo sapiens_hsa04742 | 1.82787002 |
| 16 | Salivary secretion_Homo sapiens_hsa04970 | 1.75620915 |
| 17 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.72381875 |
| 18 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.66442423 |
| 19 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.65548578 |
| 20 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 1.63589927 |
| 21 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.55752239 |
| 22 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.50217858 |
| 23 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 1.47363569 |
| 24 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 1.46070380 |
| 25 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 1.44857164 |
| 26 | Phototransduction_Homo sapiens_hsa04744 | 1.40343811 |
| 27 | Long-term potentiation_Homo sapiens_hsa04720 | 1.35836656 |
| 28 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 1.33102322 |
| 29 | Mineral absorption_Homo sapiens_hsa04978 | 1.30722776 |
| 30 | Gastric acid secretion_Homo sapiens_hsa04971 | 1.28721348 |
| 31 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.28638170 |
| 32 | Cholinergic synapse_Homo sapiens_hsa04725 | 1.26970725 |
| 33 | Cocaine addiction_Homo sapiens_hsa05030 | 1.21569017 |
| 34 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.21447118 |
| 35 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.20442681 |
| 36 | Dopaminergic synapse_Homo sapiens_hsa04728 | 1.19856852 |
| 37 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 1.17220424 |
| 38 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.11955104 |
| 39 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.08496503 |
| 40 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.07198020 |
| 41 | ErbB signaling pathway_Homo sapiens_hsa04012 | 1.04249713 |
| 42 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.03776847 |
| 43 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 1.01046147 |
| 44 | cAMP signaling pathway_Homo sapiens_hsa04024 | 1.00270162 |
| 45 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.99585811 |
| 46 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.99110277 |
| 47 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.94681510 |
| 48 | Bile secretion_Homo sapiens_hsa04976 | 0.94032142 |
| 49 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.90680100 |
| 50 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.88801599 |
| 51 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.88073480 |
| 52 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.87117132 |
| 53 | Renin secretion_Homo sapiens_hsa04924 | 0.86737206 |
| 54 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.84630387 |
| 55 | Long-term depression_Homo sapiens_hsa04730 | 0.83674842 |
| 56 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.79833892 |
| 57 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.76487566 |
| 58 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.76147398 |
| 59 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.75532410 |
| 60 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.75507610 |
| 61 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.75239240 |
| 62 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.73742274 |
| 63 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.73651459 |
| 64 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.72391918 |
| 65 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.71135244 |
| 66 | Histidine metabolism_Homo sapiens_hsa00340 | 0.70277560 |
| 67 | Melanogenesis_Homo sapiens_hsa04916 | 0.69128941 |
| 68 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.67985513 |
| 69 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.66902104 |
| 70 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.64992433 |
| 71 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.64612052 |
| 72 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.64105411 |
| 73 | Circadian rhythm_Homo sapiens_hsa04710 | 0.63997997 |
| 74 | Lysosome_Homo sapiens_hsa04142 | 0.61684472 |
| 75 | Gap junction_Homo sapiens_hsa04540 | 0.60235804 |
| 76 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.60009616 |
| 77 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.58839974 |
| 78 | Glioma_Homo sapiens_hsa05214 | 0.58399509 |
| 79 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.57663212 |
| 80 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.57256582 |
| 81 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.56228161 |
| 82 | Endocytosis_Homo sapiens_hsa04144 | 0.55897731 |
| 83 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.55319207 |
| 84 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.54821150 |
| 85 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.53856393 |
| 86 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.53835213 |
| 87 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.53790452 |
| 88 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.53268640 |
| 89 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.51130008 |
| 90 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.50497945 |
| 91 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.50444025 |
| 92 | Axon guidance_Homo sapiens_hsa04360 | 0.50256760 |
| 93 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.49743910 |
| 94 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.49674611 |
| 95 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.48854025 |
| 96 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.48062441 |
| 97 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.47986937 |
| 98 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.47939326 |
| 99 | Other glycan degradation_Homo sapiens_hsa00511 | 0.46097486 |
| 100 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 0.45126027 |
| 101 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.44314233 |
| 102 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.44228188 |
| 103 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.42396251 |
| 104 | Endometrial cancer_Homo sapiens_hsa05213 | 0.41794789 |
| 105 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.41701141 |
| 106 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.41696063 |
| 107 | Tight junction_Homo sapiens_hsa04530 | 0.40893356 |
| 108 | Prion diseases_Homo sapiens_hsa05020 | 0.40518772 |
| 109 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.38991139 |
| 110 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.38108426 |
| 111 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.38042201 |
| 112 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.36645750 |
| 113 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.35115261 |
| 114 | Alcoholism_Homo sapiens_hsa05034 | 0.34365384 |
| 115 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.33433809 |
| 116 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.33294763 |
| 117 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.32896543 |
| 118 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.32863934 |
| 119 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.32407076 |
| 120 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.27214097 |
| 121 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.25844620 |
| 122 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.24724253 |
| 123 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.24662751 |
| 124 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.23921319 |
| 125 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.23543614 |
| 126 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.21834381 |

