

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | retinal cone cell development (GO:0046549) | 6.80871868 |
| 2 | GMP metabolic process (GO:0046037) | 6.53525716 |
| 3 | photoreceptor cell development (GO:0042461) | 6.48951605 |
| 4 | eye photoreceptor cell development (GO:0042462) | 6.17893454 |
| 5 | regulation of vitamin D biosynthetic process (GO:0060556) | 5.87575209 |
| 6 | positive regulation of guanylate cyclase activity (GO:0031284) | 5.81910007 |
| 7 | photoreceptor cell maintenance (GO:0045494) | 5.49635887 |
| 8 | phototransduction, visible light (GO:0007603) | 5.21609343 |
| 9 | phototransduction (GO:0007602) | 5.21221260 |
| 10 | regulation of guanylate cyclase activity (GO:0031282) | 5.19381498 |
| 11 | detection of light stimulus (GO:0009583) | 4.96923891 |
| 12 | detection of visible light (GO:0009584) | 4.90791958 |
| 13 | detection of light stimulus involved in sensory perception (GO:0050962) | 4.61573972 |
| 14 | detection of light stimulus involved in visual perception (GO:0050908) | 4.61573972 |
| 15 | regulation of vitamin metabolic process (GO:0030656) | 4.35786349 |
| 16 | neutrophil activation involved in immune response (GO:0002283) | 4.24779922 |
| 17 | positive regulation of heat generation (GO:0031652) | 4.19104692 |
| 18 | regulation of fever generation (GO:0031620) | 4.08830642 |
| 19 | cellular response to light stimulus (GO:0071482) | 4.07029514 |
| 20 | visual perception (GO:0007601) | 4.05879551 |
| 21 | sensory perception of light stimulus (GO:0050953) | 3.98351842 |
| 22 | retinal rod cell development (GO:0046548) | 3.82212789 |
| 23 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.77822896 |
| 24 | positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725) | 3.66251413 |
| 25 | response to peptidoglycan (GO:0032494) | 3.58412940 |
| 26 | positive regulation by symbiont of host defense response (GO:0052509) | 3.54455875 |
| 27 | modulation by symbiont of host defense response (GO:0052031) | 3.54455875 |
| 28 | modulation by organism of immune response of other organism involved in symbiotic interaction (GO:00 | 3.54455875 |
| 29 | modulation by organism of defense response of other organism involved in symbiotic interaction (GO:0 | 3.54455875 |
| 30 | positive regulation by organism of defense response of other organism involved in symbiotic interact | 3.54455875 |
| 31 | modulation by symbiont of host immune response (GO:0052553) | 3.54455875 |
| 32 | cellular response to arsenic-containing substance (GO:0071243) | 3.49243569 |
| 33 | cellular response to thyroid hormone stimulus (GO:0097067) | 3.43898491 |
| 34 | lipopolysaccharide-mediated signaling pathway (GO:0031663) | 3.37179764 |
| 35 | regulation of mononuclear cell migration (GO:0071675) | 3.35895705 |
| 36 | protein-chromophore linkage (GO:0018298) | 3.35214254 |
| 37 | granulocyte activation (GO:0036230) | 3.34895426 |
| 38 | detection of external stimulus (GO:0009581) | 3.31744355 |
| 39 | positive regulation of interleukin-2 biosynthetic process (GO:0045086) | 3.31686086 |
| 40 | positive regulation of chemokine biosynthetic process (GO:0045080) | 3.29572628 |
| 41 | regulation of cGMP metabolic process (GO:0030823) | 3.27496429 |
| 42 | negative regulation of nitric oxide biosynthetic process (GO:0045019) | 3.27407996 |
| 43 | germinal center formation (GO:0002467) | 3.27369760 |
| 44 | natural killer cell mediated immunity (GO:0002228) | 3.26322507 |
| 45 | natural killer cell mediated cytotoxicity (GO:0042267) | 3.26322507 |
| 46 | ADP metabolic process (GO:0046031) | 3.25084010 |
| 47 | detection of abiotic stimulus (GO:0009582) | 3.24903082 |
| 48 | wound healing, spreading of epidermal cells (GO:0035313) | 3.24006888 |
| 49 | positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770) | 3.23124410 |
| 50 | regulation of chronic inflammatory response (GO:0002676) | 3.23103753 |
| 51 | regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645) | 3.21522449 |
| 52 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.17911918 |
| 53 | response to muramyl dipeptide (GO:0032495) | 3.17203362 |
| 54 | positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:0061081 | 3.14799537 |
| 55 | positive regulation of interferon-alpha production (GO:0032727) | 3.13719847 |
| 56 | regulation of interleukin-12 biosynthetic process (GO:0045075) | 3.12561525 |
| 57 | positive regulation of cGMP biosynthetic process (GO:0030828) | 3.11873211 |
| 58 | photoreceptor cell differentiation (GO:0046530) | 3.07386149 |
| 59 | eye photoreceptor cell differentiation (GO:0001754) | 3.07386149 |
| 60 | neutrophil activation (GO:0042119) | 3.07047022 |
| 61 | negative regulation of toll-like receptor 4 signaling pathway (GO:0034144) | 3.05945708 |
| 62 | regulation of memory T cell differentiation (GO:0043380) | 3.05840744 |
| 63 | cell adhesion mediated by integrin (GO:0033627) | 3.05445066 |
| 64 | piRNA metabolic process (GO:0034587) | 3.04314472 |
| 65 | regulation of membrane protein ectodomain proteolysis (GO:0051043) | 3.02808322 |
| 66 | detection of molecule of bacterial origin (GO:0032490) | 3.02692816 |
| 67 | protein localization to endosome (GO:0036010) | 3.02371297 |
| 68 | negative regulation of monooxygenase activity (GO:0032769) | 2.99007090 |
| 69 | regulation of interferon-alpha production (GO:0032647) | 2.98925851 |
| 70 | negative regulation of lipid storage (GO:0010888) | 2.98353545 |
| 71 | production of molecular mediator involved in inflammatory response (GO:0002532) | 2.91083508 |
| 72 | NIK/NF-kappaB signaling (GO:0038061) | 2.90720673 |
| 73 | regulation of podosome assembly (GO:0071801) | 2.89431789 |
| 74 | macrophage activation involved in immune response (GO:0002281) | 2.89258538 |
| 75 | regulation of heat generation (GO:0031650) | 2.89012458 |
| 76 | regulation of cGMP biosynthetic process (GO:0030826) | 2.88663389 |
| 77 | retina development in camera-type eye (GO:0060041) | 2.88543069 |
| 78 | eosinophil chemotaxis (GO:0048245) | 2.86432724 |
| 79 | immunoglobulin mediated immune response (GO:0016064) | 2.85216829 |
| 80 | positive regulation of p38MAPK cascade (GO:1900745) | 2.83643104 |
| 81 | regulation of dendritic cell antigen processing and presentation (GO:0002604) | 2.82079033 |
| 82 | positive regulation of natural killer cell activation (GO:0032816) | 2.81997308 |
| 83 | positive regulation of membrane protein ectodomain proteolysis (GO:0051044) | 2.81435808 |
| 84 | membrane raft organization (GO:0031579) | 2.80692990 |
| 85 | cellular response to radiation (GO:0071478) | 2.80558397 |
| 86 | hydrogen peroxide biosynthetic process (GO:0050665) | 2.79503825 |
| 87 | positive regulation of T-helper cell differentiation (GO:0045624) | 2.78965459 |
| 88 | positive regulation of interferon-beta production (GO:0032728) | 2.78239268 |
| 89 | cellular response to lipopolysaccharide (GO:0071222) | 2.76769409 |
| 90 | monocyte chemotaxis (GO:0002548) | 2.76444602 |
| 91 | positive regulation of interleukin-17 production (GO:0032740) | 2.76195705 |
| 92 | regulation of nitric oxide biosynthetic process (GO:0045428) | 2.75701451 |
| 93 | positive regulation of NF-kappaB import into nucleus (GO:0042346) | 2.75132729 |
| 94 | intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631) | 2.74375766 |
| 95 | superoxide anion generation (GO:0042554) | 2.73570024 |
| 96 | skeletal muscle adaptation (GO:0043501) | 2.73498235 |
| 97 | regulation of RIG-I signaling pathway (GO:0039535) | 2.72519578 |
| 98 | regulation of immunoglobulin secretion (GO:0051023) | 2.72438331 |
| 99 | regulation of interleukin-8 biosynthetic process (GO:0045414) | 2.72119879 |
| 100 | negative regulation of interleukin-12 production (GO:0032695) | 2.71359062 |
| 101 | amino sugar catabolic process (GO:0046348) | 2.70740069 |
| 102 | respiratory burst (GO:0045730) | 2.70038899 |
| 103 | interferon-gamma-mediated signaling pathway (GO:0060333) | 2.69839878 |
| 104 | positive regulation of syncytium formation by plasma membrane fusion (GO:0060143) | 2.69211983 |
| 105 | positive regulation of interleukin-6 production (GO:0032755) | 2.69187512 |
| 106 | cellular response to molecule of bacterial origin (GO:0071219) | 2.68094460 |
| 107 | regulation of T-helper cell differentiation (GO:0045622) | 2.67607924 |
| 108 | positive regulation of cellular amide metabolic process (GO:0034250) | 2.66415099 |
| 109 | regulation of natural killer cell activation (GO:0032814) | 2.65480751 |
| 110 | positive regulation of type 2 immune response (GO:0002830) | 2.64292480 |
| 111 | cellular response to virus (GO:0098586) | 2.63004760 |
| 112 | response to thyroid hormone (GO:0097066) | 2.61718717 |
| 113 | positive regulation of nitric oxide biosynthetic process (GO:0045429) | 2.61371962 |
| 114 | detection of external biotic stimulus (GO:0098581) | 2.60642276 |
| 115 | detection of other organism (GO:0098543) | 2.59653054 |
| 116 | regulation of interleukin-17 production (GO:0032660) | 2.59145837 |
| 117 | activation of MAPKKK activity (GO:0000185) | 2.58242879 |
| 118 | positive regulation of interleukin-8 biosynthetic process (GO:0045416) | 2.57534812 |
| 119 | leukocyte aggregation (GO:0070486) | 2.55694092 |
| 120 | regulation of T-helper 1 cell differentiation (GO:0045625) | 2.55567878 |
| 121 | positive regulation of heterotypic cell-cell adhesion (GO:0034116) | 2.54750636 |
| 122 | positive regulation of tumor necrosis factor biosynthetic process (GO:0042535) | 2.54464748 |
| 123 | regulation of macrophage chemotaxis (GO:0010758) | 2.54401747 |
| 124 | positive regulation of chemokine production (GO:0032722) | 2.54246722 |
| 125 | regulation of clathrin-mediated endocytosis (GO:2000369) | 2.53320262 |
| 126 | mature B cell differentiation involved in immune response (GO:0002313) | 2.53083557 |
| 127 | regulation of NF-kappaB import into nucleus (GO:0042345) | 2.52662111 |
| 128 | decidualization (GO:0046697) | 2.52477981 |
| 129 | receptor guanylyl cyclase signaling pathway (GO:0007168) | 2.52090369 |
| 130 | low-density lipoprotein particle clearance (GO:0034383) | 2.51958273 |
| 131 | sphingosine metabolic process (GO:0006670) | 2.51286236 |
| 132 | negative regulation of interleukin-17 production (GO:0032700) | 2.49720668 |
| 133 | regulation of fibroblast apoptotic process (GO:2000269) | 2.48560600 |
| 134 | regulation of activation of Janus kinase activity (GO:0010533) | 2.48173419 |
| 135 | regulation of cytokine secretion involved in immune response (GO:0002739) | 2.48157032 |
| 136 | eosinophil migration (GO:0072677) | 2.48050552 |
| 137 | chaperone mediated protein folding requiring cofactor (GO:0051085) | 2.47856601 |
| 138 | regulation of chemokine biosynthetic process (GO:0045073) | 2.47834650 |
| 139 | positive regulation of natural killer cell differentiation (GO:0032825) | 2.47616585 |
| 140 | positive regulation of cGMP metabolic process (GO:0030825) | 2.47093270 |
| 141 | regulation of NFAT protein import into nucleus (GO:0051532) | 2.45611971 |
| 142 | positive regulation of macrophage cytokine production (GO:0060907) | 2.45116961 |
| 143 | response to host immune response (GO:0052572) | 2.44836856 |
| 144 | response to immune response of other organism involved in symbiotic interaction (GO:0052564) | 2.44836856 |
| 145 | negative regulation of bone mineralization (GO:0030502) | 2.44552906 |
| 146 | cyclooxygenase pathway (GO:0019371) | 2.43988514 |
| 147 | positive regulation of monocyte chemotaxis (GO:0090026) | 2.43105137 |
| 148 | cellular response to biotic stimulus (GO:0071216) | 2.42904088 |
| 149 | skin morphogenesis (GO:0043589) | 2.42892639 |
| 150 | positive regulation of osteoclast differentiation (GO:0045672) | 2.41840444 |
| 151 | regulation of nitric-oxide synthase biosynthetic process (GO:0051769) | 2.41188925 |
| 152 | phagosome maturation (GO:0090382) | 2.40584594 |
| 153 | myeloid dendritic cell differentiation (GO:0043011) | 2.40128256 |
| 154 | regulation of syncytium formation by plasma membrane fusion (GO:0060142) | 2.40038153 |
| 155 | positive regulation of leukocyte apoptotic process (GO:2000108) | 2.40011530 |
| 156 | cellular response to nicotine (GO:0071316) | 2.39565357 |
| 157 | positive regulation of toll-like receptor signaling pathway (GO:0034123) | 2.37573456 |
| 158 | neutrophil mediated immunity (GO:0002446) | 2.37200943 |
| 159 | regulation of toll-like receptor 4 signaling pathway (GO:0034143) | 2.37175574 |
| 160 | T-helper 1 type immune response (GO:0042088) | 2.36225273 |
| 161 | negative regulation of biomineral tissue development (GO:0070168) | 2.34855054 |
| 162 | regulation of interferon-beta biosynthetic process (GO:0045357) | 2.33201208 |
| 163 | glycosphingolipid catabolic process (GO:0046479) | 2.32613682 |
| 164 | cell wall macromolecule metabolic process (GO:0044036) | 2.32195630 |
| 165 | regulation of ER to Golgi vesicle-mediated transport (GO:0060628) | 2.30378961 |
| 166 | regulation of monocyte chemotaxis (GO:0090025) | 2.28917137 |
| 167 | regulation of vascular endothelial growth factor production (GO:0010574) | 2.28314653 |
| 168 | response to progesterone (GO:0032570) | 2.27494498 |
| 169 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.26308615 |
| 170 | response to arsenic-containing substance (GO:0046685) | 2.25737815 |
| 171 | cellular response to interferon-alpha (GO:0035457) | 2.25149238 |
| 172 | regulation of rhodopsin mediated signaling pathway (GO:0022400) | 10.5834853 |
| 173 | rhodopsin mediated signaling pathway (GO:0016056) | 10.2330865 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 8.19187624 |
| 2 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 5.17179616 |
| 3 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 5.09692449 |
| 4 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 4.36794427 |
| 5 | Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse | 3.61440939 |
| 6 | SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse | 3.03215034 |
| 7 | IRF8_27001747_Chip-Seq_BMDM_Mouse | 2.90045618 |
| 8 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 2.83787353 |
| 9 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 2.82864937 |
| 10 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.81434185 |
| 11 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 2.74204600 |
| 12 | RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 2.73499434 |
| 13 | NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse | 2.68647593 |
| 14 | MYB_21317192_ChIP-Seq_ERMYB_Mouse | 2.56776249 |
| 15 | STAT6_20620947_ChIP-Seq_CD4_POS_T_Human | 2.56527566 |
| 16 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 2.46107743 |
| 17 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 2.43527254 |
| 18 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 2.25967470 |
| 19 | * MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 2.23264220 |
| 20 | STAT3_20064451_ChIP-Seq_CD4+T_Mouse | 2.20729095 |
| 21 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 1.92645766 |
| 22 | IRF1_21803131_ChIP-Seq_MONOCYTES_Human | 1.82889305 |
| 23 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 1.82464219 |
| 24 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.77734442 |
| 25 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 1.72458131 |
| 26 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.70919362 |
| 27 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.70044381 |
| 28 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 1.69924565 |
| 29 | LYL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.67569339 |
| 30 | ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 1.64139273 |
| 31 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 1.63127106 |
| 32 | * STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 1.60487284 |
| 33 | STAT4_19710469_ChIP-ChIP_TH1__Mouse | 1.56067770 |
| 34 | RUNX1_20887958_ChIP-Seq_HPC-7_Mouse | 1.54786898 |
| 35 | CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse | 1.51087432 |
| 36 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.48945061 |
| 37 | SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 1.44893025 |
| 38 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.42543809 |
| 39 | CJUN_26792858_Chip-Seq_BT549_Human | 1.41657811 |
| 40 | PU_27001747_Chip-Seq_BMDM_Mouse | 1.41476205 |
| 41 | VDR_24787735_ChIP-Seq_THP-1_Human | 1.40519765 |
| 42 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.40079908 |
| 43 | TP53_16413492_ChIP-PET_HCT116_Human | 1.39209674 |
| 44 | CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse | 1.38252239 |
| 45 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 1.37875223 |
| 46 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.36056653 |
| 47 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.32815310 |
| 48 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.32640594 |
| 49 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.31831869 |
| 50 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 1.31399588 |
| 51 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 1.31399588 |
| 52 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.28085620 |
| 53 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.27024342 |
| 54 | CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse | 1.26032058 |
| 55 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.25699422 |
| 56 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.25699422 |
| 57 | BRD4_27068464_Chip-Seq_AML-cells_Mouse | 1.23056124 |
| 58 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.22173127 |
| 59 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.21368355 |
| 60 | CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.20366996 |
| 61 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.19378117 |
| 62 | * SPI1_23547873_ChIP-Seq_NB4_Human | 1.18440832 |
| 63 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.17184782 |
| 64 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.17097877 |
| 65 | RUNX1_22412390_ChIP-Seq_EML_Mouse | 1.16708026 |
| 66 | GATA3_26560356_Chip-Seq_TH2_Human | 1.12276483 |
| 67 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.11987314 |
| 68 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.10567930 |
| 69 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.10081730 |
| 70 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.08712155 |
| 71 | LMO2_20887958_ChIP-Seq_HPC-7_Mouse | 1.07971573 |
| 72 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.06995634 |
| 73 | FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse | 1.06896012 |
| 74 | PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse | 1.06226024 |
| 75 | ATF3_27146783_Chip-Seq_COLON_Human | 1.05554512 |
| 76 | PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse | 1.05450032 |
| 77 | BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 1.02089813 |
| 78 | MYB_26560356_Chip-Seq_TH1_Human | 1.01939346 |
| 79 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 1.01894568 |
| 80 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.01514128 |
| 81 | EGR1_19032775_ChIP-ChIP_M12_Human | 1.00110256 |
| 82 | FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.00047690 |
| 83 | MYB_26560356_Chip-Seq_TH2_Human | 0.99660727 |
| 84 | GATA1_19941827_ChIP-Seq_MEL_Mouse | 0.99537842 |
| 85 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 0.98387827 |
| 86 | * PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 0.97438700 |
| 87 | * TP63_23658742_ChIP-Seq_EP156T_Human | 0.96788415 |
| 88 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 0.96627678 |
| 89 | SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 0.96346810 |
| 90 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 0.95472153 |
| 91 | * SPI1_23127762_ChIP-Seq_K562_Human | 0.94953998 |
| 92 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 0.94414061 |
| 93 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 0.94199128 |
| 94 | SMRT_27268052_Chip-Seq_Bcells_Human | 0.93574907 |
| 95 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 0.93030299 |
| 96 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 0.91547883 |
| 97 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 0.91389679 |
| 98 | GATA2_20887958_ChIP-Seq_HPC-7_Mouse | 0.89529996 |
| 99 | CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse | 0.87909457 |
| 100 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 0.87202479 |
| 101 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 0.87019508 |
| 102 | RXR_22108803_ChIP-Seq_LS180_Human | 0.86947016 |
| 103 | * TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse | 0.86810016 |
| 104 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 0.86782423 |
| 105 | * GATA2_19941826_ChIP-Seq_K562_Human | 0.86646145 |
| 106 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 0.86492012 |
| 107 | SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.85751925 |
| 108 | GATA3_27048872_Chip-Seq_THYMUS_Human | 0.85472066 |
| 109 | PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse | 0.84891085 |
| 110 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.84840817 |
| 111 | * FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human | 0.83856592 |
| 112 | NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human | 0.83740029 |
| 113 | GATA1_19941826_ChIP-Seq_K562_Human | 0.83513919 |
| 114 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 0.83283535 |
| 115 | MEIS1_20887958_ChIP-Seq_HPC-7_Mouse | 0.81591940 |
| 116 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 0.80431760 |
| 117 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 0.79429249 |
| 118 | GATA2_22383799_ChIP-Seq_G1ME_Mouse | 0.77947037 |
| 119 | SOX2_20726797_ChIP-Seq_SW620_Human | 0.74710575 |
| 120 | E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human | 0.73109953 |
| 121 | GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.72833646 |
| 122 | BRD4_25478319_ChIP-Seq_HGPS_Human | 0.72703109 |
| 123 | FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 0.71891309 |
| 124 | TFEB_21752829_ChIP-Seq_HELA_Human | 0.69981025 |
| 125 | * PPARG_20887899_ChIP-Seq_3T3-L1_Mouse | 0.69375345 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003011_delayed_dark_adaptation | 6.16302980 |
| 2 | MP0005551_abnormal_eye_electrophysiolog | 5.58492414 |
| 3 | MP0005253_abnormal_eye_physiology | 3.65718479 |
| 4 | MP0003950_abnormal_plasma_membrane | 3.45711716 |
| 5 | MP0003436_decreased_susceptibility_to | 3.15197033 |
| 6 | MP0001835_abnormal_antigen_presentation | 2.91611562 |
| 7 | MP0006072_abnormal_retinal_apoptosis | 2.82138761 |
| 8 | MP0006054_spinal_hemorrhage | 2.80068407 |
| 9 | MP0008438_abnormal_cutaneous_collagen | 2.68407317 |
| 10 | MP0002148_abnormal_hypersensitivity_rea | 2.60189714 |
| 11 | MP0002638_abnormal_pupillary_reflex | 2.54136928 |
| 12 | MP0003303_peritoneal_inflammation | 2.53812454 |
| 13 | MP0009785_altered_susceptibility_to | 2.36736314 |
| 14 | MP0001324_abnormal_eye_pigmentation | 2.33535736 |
| 15 | MP0003724_increased_susceptibility_to | 2.25616926 |
| 16 | MP0002419_abnormal_innate_immunity | 2.23932481 |
| 17 | MP0005000_abnormal_immune_tolerance | 2.16322787 |
| 18 | MP0004510_myositis | 2.13145490 |
| 19 | MP0005195_abnormal_posterior_eye | 1.98056575 |
| 20 | MP0001533_abnormal_skeleton_physiology | 1.96491507 |
| 21 | MP0003646_muscle_fatigue | 1.91851136 |
| 22 | MP0005076_abnormal_cell_differentiation | 1.81561049 |
| 23 | MP0004947_skin_inflammation | 1.81552867 |
| 24 | MP0006082_CNS_inflammation | 1.80959814 |
| 25 | MP0001853_heart_inflammation | 1.80954287 |
| 26 | MP0005387_immune_system_phenotype | 1.80157969 |
| 27 | MP0001790_abnormal_immune_system | 1.80157969 |
| 28 | MP0002877_abnormal_melanocyte_morpholog | 1.79201136 |
| 29 | MP0005167_abnormal_blood-brain_barrier | 1.78835620 |
| 30 | * MP0002452_abnormal_antigen_presenting | 1.74017153 |
| 31 | MP0005025_abnormal_response_to | 1.73447086 |
| 32 | MP0005023_abnormal_wound_healing | 1.73216791 |
| 33 | MP0002090_abnormal_vision | 1.64159072 |
| 34 | MP0009764_decreased_sensitivity_to | 1.62832646 |
| 35 | MP0004782_abnormal_surfactant_physiolog | 1.58096794 |
| 36 | * MP0002723_abnormal_immune_serum | 1.55214097 |
| 37 | MP0005671_abnormal_response_to | 1.53970709 |
| 38 | MP0000749_muscle_degeneration | 1.52678140 |
| 39 | MP0002332_abnormal_exercise_endurance | 1.52473693 |
| 40 | MP0003656_abnormal_erythrocyte_physiolo | 1.51569059 |
| 41 | MP0010352_gastrointestinal_tract_polyps | 1.50966604 |
| 42 | MP0003448_altered_tumor_morphology | 1.50087936 |
| 43 | MP0010678_abnormal_skin_adnexa | 1.50077483 |
| 44 | MP0000343_altered_response_to | 1.49517076 |
| 45 | MP0005391_vision/eye_phenotype | 1.47420025 |
| 46 | MP0005310_abnormal_salivary_gland | 1.46364460 |
| 47 | MP0000383_abnormal_hair_follicle | 1.44932868 |
| 48 | MP0005451_abnormal_body_composition | 1.44550218 |
| 49 | MP0005397_hematopoietic_system_phenotyp | 1.44085371 |
| 50 | MP0001545_abnormal_hematopoietic_system | 1.44085371 |
| 51 | MP0000685_abnormal_immune_system | 1.43893422 |
| 52 | MP0003075_altered_response_to | 1.43833024 |
| 53 | * MP0001800_abnormal_humoral_immune | 1.41706318 |
| 54 | MP0003172_abnormal_lysosome_physiology | 1.40378569 |
| 55 | MP0002138_abnormal_hepatobiliary_system | 1.37922236 |
| 56 | * MP0001819_abnormal_immune_cell | 1.37219409 |
| 57 | MP0002405_respiratory_system_inflammati | 1.33079733 |
| 58 | * MP0002420_abnormal_adaptive_immunity | 1.32600110 |
| 59 | * MP0001845_abnormal_inflammatory_respons | 1.27523177 |
| 60 | MP0009278_abnormal_bone_marrow | 1.27410082 |
| 61 | MP0005164_abnormal_response_to | 1.26291473 |
| 62 | MP0002060_abnormal_skin_morphology | 1.20949158 |
| 63 | MP0001542_abnormal_bone_strength | 1.19675403 |
| 64 | MP0003300_gastrointestinal_ulcer | 1.19184145 |
| 65 | MP0010307_abnormal_tumor_latency | 1.18537064 |
| 66 | MP0000858_altered_metastatic_potential | 1.18007174 |
| 67 | MP0002254_reproductive_system_inflammat | 1.17407737 |
| 68 | MP0005165_increased_susceptibility_to | 1.17292181 |
| 69 | MP0002998_abnormal_bone_remodeling | 1.16434765 |
| 70 | MP0002277_abnormal_respiratory_mucosa | 1.15749374 |
| 71 | MP0000013_abnormal_adipose_tissue | 1.14124175 |
| 72 | MP0000604_amyloidosis | 1.11229297 |
| 73 | MP0002933_joint_inflammation | 1.10843882 |
| 74 | MP0009763_increased_sensitivity_to | 1.10699488 |
| 75 | MP0005464_abnormal_platelet_physiology | 1.09128985 |
| 76 | MP0010155_abnormal_intestine_physiology | 1.06834530 |
| 77 | MP0005058_abnormal_lysosome_morphology | 1.05196050 |
| 78 | MP0002229_neurodegeneration | 1.03897208 |
| 79 | MP0000569_abnormal_digit_pigmentation | 1.02621821 |
| 80 | MP0005257_abnormal_intraocular_pressure | 1.02387280 |
| 81 | MP0005390_skeleton_phenotype | 1.02331064 |
| 82 | MP0001958_emphysema | 1.01976380 |
| 83 | MP0000427_abnormal_hair_cycle | 0.98597321 |
| 84 | MP0002006_tumorigenesis | 0.97995652 |
| 85 | MP0005166_decreased_susceptibility_to | 0.97590523 |
| 86 | MP0000750_abnormal_muscle_regeneration | 0.97391094 |
| 87 | * MP0001216_abnormal_epidermal_layer | 0.97350771 |
| 88 | MP0003453_abnormal_keratinocyte_physiol | 0.95629719 |
| 89 | MP0010234_abnormal_vibrissa_follicle | 0.95024747 |
| 90 | MP0001986_abnormal_taste_sensitivity | 0.94263885 |
| 91 | MP0009765_abnormal_xenobiotic_induced | 0.93704013 |
| 92 | MP0008004_abnormal_stomach_pH | 0.93409973 |
| 93 | MP0002295_abnormal_pulmonary_circulatio | 0.92962116 |
| 94 | MP0003191_abnormal_cellular_cholesterol | 0.92140629 |
| 95 | MP0003183_abnormal_peptide_metabolism | 0.91235490 |
| 96 | MP0003279_aneurysm | 0.91057734 |
| 97 | MP0001191_abnormal_skin_condition | 0.89862224 |
| 98 | MP0005197_abnormal_uvea_morphology | 0.89632266 |
| 99 | MP0009333_abnormal_splenocyte_physiolog | 0.89605469 |
| 100 | MP0003045_fibrosis | 0.88721436 |
| 101 | MP0008469_abnormal_protein_level | 0.87337870 |
| 102 | MP0004883_abnormal_blood_vessel | 0.86938829 |
| 103 | MP0005275_abnormal_skin_tensile | 0.85682765 |
| 104 | * MP0001764_abnormal_homeostasis | 0.84898032 |
| 105 | MP0010386_abnormal_urinary_bladder | 0.84469605 |
| 106 | MP0003705_abnormal_hypodermis_morpholog | 0.84155228 |
| 107 | * MP0000716_abnormal_immune_system | 0.83449143 |
| 108 | * MP0001243_abnormal_dermal_layer | 0.83065019 |
| 109 | MP0005595_abnormal_vascular_smooth | 0.81280859 |
| 110 | MP0010368_abnormal_lymphatic_system | 0.80685102 |
| 111 | MP0003566_abnormal_cell_adhesion | 0.80084055 |
| 112 | MP0005410_abnormal_fertilization | 0.79621068 |
| 113 | MP0003806_abnormal_nucleotide_metabolis | 0.79578901 |
| 114 | MP0008874_decreased_physiological_sensi | 0.79322607 |
| 115 | MP0000015_abnormal_ear_pigmentation | 0.79207983 |
| 116 | MP0003828_pulmonary_edema | 0.78666646 |
| 117 | MP0002398_abnormal_bone_marrow | 0.78307417 |
| 118 | MP0002896_abnormal_bone_mineralization | 0.76622629 |
| 119 | MP0000920_abnormal_myelination | 0.73248163 |
| 120 | MP0000249_abnormal_blood_vessel | 0.72722295 |
| 121 | MP0001501_abnormal_sleep_pattern | 0.70967313 |
| 122 | MP0005584_abnormal_enzyme/coenzyme_acti | 0.68862743 |
| 123 | MP0002106_abnormal_muscle_physiology | 0.68338403 |
| 124 | MP0001851_eye_inflammation | 0.67481840 |
| 125 | * MP0002429_abnormal_blood_cell | 0.66664613 |
| 126 | MP0003091_abnormal_cell_migration | 0.66419951 |
| 127 | MP0003795_abnormal_bone_structure | 0.65715248 |
| 128 | MP0000689_abnormal_spleen_morphology | 0.64528190 |
| 129 | MP0009840_abnormal_foam_cell | 0.63881475 |
| 130 | MP0000767_abnormal_smooth_muscle | 0.61001505 |
| 131 | MP0008260_abnormal_autophagy | 0.59801739 |
| 132 | * MP0005376_homeostasis/metabolism_phenot | 0.58529068 |
| 133 | MP0005621_abnormal_cell_physiology | 0.58289978 |
| 134 | MP0005620_abnormal_muscle_contractility | 0.58205258 |
| 135 | MP0004145_abnormal_muscle_electrophysio | 0.56859364 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Bony spicule pigmentary retinopathy (HP:0007737) | 8.65138000 |
| 2 | Pigmentary retinal degeneration (HP:0001146) | 8.13592382 |
| 3 | Chorioretinal atrophy (HP:0000533) | 7.55822235 |
| 4 | Abnormal rod and cone electroretinograms (HP:0008323) | 7.51059259 |
| 5 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 6.99818384 |
| 6 | Attenuation of retinal blood vessels (HP:0007843) | 5.84571499 |
| 7 | Pendular nystagmus (HP:0012043) | 5.84127840 |
| 8 | Central scotoma (HP:0000603) | 5.39762160 |
| 9 | Abnormality of liposaccharide metabolism (HP:0010968) | 5.25024421 |
| 10 | Abnormality of glycosphingolipid metabolism (HP:0004343) | 5.25024421 |
| 11 | Abnormality of glycolipid metabolism (HP:0010969) | 5.25024421 |
| 12 | Abnormality of macular pigmentation (HP:0008002) | 4.84591024 |
| 13 | Scotoma (HP:0000575) | 4.80831230 |
| 14 | Dyschromatopsia (HP:0007641) | 4.79170773 |
| 15 | Vitreoretinal degeneration (HP:0000655) | 4.47563635 |
| 16 | Photophobia (HP:0000613) | 4.31106555 |
| 17 | Abolished electroretinogram (ERG) (HP:0000550) | 4.26193720 |
| 18 | Cone-rod dystrophy (HP:0000548) | 4.18902340 |
| 19 | Vacuolated lymphocytes (HP:0001922) | 4.02102430 |
| 20 | Decreased central vision (HP:0007663) | 3.93884630 |
| 21 | Choroideremia (HP:0001139) | 3.90855519 |
| 22 | Type II diabetes mellitus (HP:0005978) | 3.79734737 |
| 23 | Macular degeneration (HP:0000608) | 3.68279271 |
| 24 | Dysostosis multiplex (HP:0000943) | 3.64805176 |
| 25 | Progressive visual loss (HP:0000529) | 3.55659028 |
| 26 | Elevated erythrocyte sedimentation rate (HP:0003565) | 3.52802316 |
| 27 | Interstitial pulmonary disease (HP:0006530) | 3.48522957 |
| 28 | Retrobulbar optic neuritis (HP:0100654) | 3.47362448 |
| 29 | Optic neuritis (HP:0100653) | 3.47362448 |
| 30 | Orchitis (HP:0100796) | 3.46745619 |
| 31 | Eczematoid dermatitis (HP:0000976) | 3.45118408 |
| 32 | Recurrent abscess formation (HP:0002722) | 3.35950385 |
| 33 | Constricted visual fields (HP:0001133) | 3.23688503 |
| 34 | Increased corneal curvature (HP:0100692) | 3.19212683 |
| 35 | Keratoconus (HP:0000563) | 3.19212683 |
| 36 | Tetraparesis (HP:0002273) | 3.17931199 |
| 37 | Nuclear cataract (HP:0100018) | 3.17927926 |
| 38 | Recurrent bacterial skin infections (HP:0005406) | 3.10284546 |
| 39 | Retinitis pigmentosa (HP:0000510) | 3.09594304 |
| 40 | Myositis (HP:0100614) | 3.00955601 |
| 41 | Prostate neoplasm (HP:0100787) | 2.80846261 |
| 42 | Follicular hyperkeratosis (HP:0007502) | 2.80493941 |
| 43 | Neurofibrillary tangles (HP:0002185) | 2.78541551 |
| 44 | Abnormality of mucopolysaccharide metabolism (HP:0011020) | 2.77653568 |
| 45 | Abnormality of polysaccharide metabolism (HP:0011012) | 2.77653568 |
| 46 | Abnormality of glycosaminoglycan metabolism (HP:0004371) | 2.77653568 |
| 47 | Gangrene (HP:0100758) | 2.76932303 |
| 48 | Recurrent gram-negative bacterial infections (HP:0005420) | 2.72252804 |
| 49 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 2.65746600 |
| 50 | Osteolytic defects of the hand bones (HP:0009699) | 2.65127918 |
| 51 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 2.65127918 |
| 52 | Loss of speech (HP:0002371) | 2.60135593 |
| 53 | Autoamputation (HP:0001218) | 2.60091119 |
| 54 | Spondylolisthesis (HP:0003302) | 2.59752403 |
| 55 | Upper motor neuron abnormality (HP:0002127) | 2.57298877 |
| 56 | Urinary glycosaminoglycan excretion (HP:0003541) | 2.55639002 |
| 57 | Mucopolysacchariduria (HP:0008155) | 2.55639002 |
| 58 | Posterior subcapsular cataract (HP:0007787) | 2.49037452 |
| 59 | Mediastinal lymphadenopathy (HP:0100721) | 2.41024834 |
| 60 | Short middle phalanx of the 5th finger (HP:0004220) | 2.38430759 |
| 61 | Autoimmune thrombocytopenia (HP:0001973) | 2.38188424 |
| 62 | Abnormality of macrophages (HP:0004311) | 2.35373671 |
| 63 | Premature rupture of membranes (HP:0001788) | 2.30756738 |
| 64 | Apathy (HP:0000741) | 2.30201082 |
| 65 | Diminished motivation (HP:0000745) | 2.29695811 |
| 66 | Mutism (HP:0002300) | 2.29555457 |
| 67 | Stomatitis (HP:0010280) | 2.29398811 |
| 68 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 2.22685802 |
| 69 | Cutaneous melanoma (HP:0012056) | 2.21939869 |
| 70 | Parakeratosis (HP:0001036) | 2.20626561 |
| 71 | Cervical subluxation (HP:0003308) | 2.20071639 |
| 72 | Entropion (HP:0000621) | 2.19263865 |
| 73 | Muscle fiber inclusion bodies (HP:0100299) | 2.18314025 |
| 74 | Polyneuropathy (HP:0001271) | 2.17740530 |
| 75 | Exercise-induced muscle cramps (HP:0003710) | 2.17232260 |
| 76 | Muscle fiber cytoplasmatic inclusion bodies (HP:0100303) | 2.12802122 |
| 77 | Peritonitis (HP:0002586) | 2.11072115 |
| 78 | Keratoconjunctivitis sicca (HP:0001097) | 2.10421555 |
| 79 | Ankle contracture (HP:0006466) | 2.08879951 |
| 80 | Keratitis (HP:0000491) | 2.08660491 |
| 81 | Amyotrophic lateral sclerosis (HP:0007354) | 2.06180559 |
| 82 | Glomerulopathy (HP:0100820) | 2.05837854 |
| 83 | Fatigue (HP:0012378) | 2.05741605 |
| 84 | Abnormality of the costochondral junction (HP:0000919) | 2.04534453 |
| 85 | Abnormality of the vasculature of the conjunctiva (HP:0008054) | 2.03156747 |
| 86 | Erythema (HP:0010783) | 2.03045647 |
| 87 | Aortic dissection (HP:0002647) | 2.02473996 |
| 88 | Ulnar deviation of the wrist (HP:0003049) | 2.00970008 |
| 89 | Congenital stationary night blindness (HP:0007642) | 10.8151114 |
| 90 | Short nail (HP:0001799) | 1.99458088 |
| 91 | Retinal atrophy (HP:0001105) | 1.97853657 |
| 92 | Distal arthrogryposis (HP:0005684) | 1.97675049 |
| 93 | Increased neuronal autofluorescent lipopigment (HP:0002074) | 1.97444135 |
| 94 | Vasculitis (HP:0002633) | 1.96352196 |
| 95 | Cerebral inclusion bodies (HP:0100314) | 1.95601509 |
| 96 | Increased IgM level (HP:0003496) | 1.95236618 |
| 97 | Supranuclear gaze palsy (HP:0000605) | 1.94965496 |
| 98 | Irregular epiphyses (HP:0010582) | 1.94485196 |
| 99 | Abnormality of the pericardium (HP:0001697) | 1.94467915 |
| 100 | Increased cerebral lipofuscin (HP:0011813) | 1.93379193 |
| 101 | Gastrointestinal infarctions (HP:0005244) | 1.93335875 |
| 102 | Neuronal loss in central nervous system (HP:0002529) | 1.92502803 |
| 103 | Disinhibition (HP:0000734) | 1.92257160 |
| 104 | Nemaline bodies (HP:0003798) | 1.91680575 |
| 105 | Arthropathy (HP:0003040) | 1.90205472 |
| 106 | Upper limb muscle weakness (HP:0003484) | 1.89970143 |
| 107 | Amyloidosis (HP:0011034) | 1.88789770 |
| 108 | Primitive reflexes (palmomental, snout, glabellar) (HP:0002476) | 1.88629232 |
| 109 | Myocardial infarction (HP:0001658) | 1.87874882 |
| 110 | Reduced subcutaneous adipose tissue (HP:0003758) | 1.87555101 |
| 111 | Hepatosplenomegaly (HP:0001433) | 1.86334231 |
| 112 | Increased serum ferritin (HP:0003281) | 1.84967515 |
| 113 | Keratoconjunctivitis (HP:0001096) | 1.84445117 |
| 114 | Gingivitis (HP:0000230) | 1.82672846 |
| 115 | Increased connective tissue (HP:0009025) | 1.82314032 |
| 116 | Frequent falls (HP:0002359) | 1.81388230 |
| 117 | Congenital ichthyosiform erythroderma (HP:0007431) | 1.80968261 |
| 118 | Axonal loss (HP:0003447) | 1.79151258 |
| 119 | Wormian bones (HP:0002645) | 1.78007786 |
| 120 | Severe visual impairment (HP:0001141) | 1.77401950 |
| 121 | Muscle fiber splitting (HP:0003555) | 1.74499986 |
| 122 | Alopecia of scalp (HP:0002293) | 1.74054649 |
| 123 | Ectropion (HP:0000656) | 1.73427210 |
| 124 | Asymmetric septal hypertrophy (HP:0001670) | 1.72860331 |
| 125 | Menstrual irregularities (HP:0000858) | 1.72213106 |
| 126 | Aortic aneurysm (HP:0004942) | 1.72178966 |
| 127 | Abnormal blistering of the skin (HP:0008066) | 1.71219182 |
| 128 | Pustule (HP:0200039) | 1.70832901 |
| 129 | Optic disc pallor (HP:0000543) | 1.70351473 |
| 130 | Premature loss of primary teeth (HP:0006323) | 1.70317702 |
| 131 | Pulmonary infiltrates (HP:0002113) | 1.70124826 |
| 132 | Increased IgE level (HP:0003212) | 1.69506542 |
| 133 | Eosinophilia (HP:0001880) | 1.68314786 |
| 134 | Vertigo (HP:0002321) | 1.67615176 |
| 135 | Glucose intolerance (HP:0000833) | 1.67228411 |
| 136 | Dilatation of the ascending aorta (HP:0005111) | 1.66486917 |
| 137 | Abnormality of nail color (HP:0100643) | 1.65501305 |
| 138 | Type 1 muscle fiber predominance (HP:0003803) | 1.65407862 |
| 139 | Protrusio acetabuli (HP:0003179) | 1.64880978 |
| 140 | Thick nail (HP:0001805) | 1.64525640 |
| 141 | Congenital primary aphakia (HP:0007707) | 1.62979923 |
| 142 | Vertebral compression fractures (HP:0002953) | 1.62524552 |
| 143 | Metaphyseal irregularity (HP:0003025) | 1.62420895 |
| 144 | Episodic fever (HP:0001954) | 1.61709814 |
| 145 | Erythroderma (HP:0001019) | 1.61070219 |
| 146 | Prolonged bleeding time (HP:0003010) | 1.60928760 |
| 147 | Arterial thrombosis (HP:0004420) | 1.60750771 |
| 148 | Wide nasal bridge (HP:0000431) | 1.60377551 |
| 149 | Petechiae (HP:0000967) | 1.60295008 |
| 150 | Albinism (HP:0001022) | 1.59822113 |
| 151 | Rough bone trabeculation (HP:0100670) | 1.59195341 |
| 152 | Metaphyseal cupping (HP:0003021) | 1.58951283 |
| 153 | Natal tooth (HP:0000695) | 1.57120893 |
| 154 | Exercise-induced myalgia (HP:0003738) | 1.55816870 |
| 155 | Gait imbalance (HP:0002141) | 1.55749175 |
| 156 | Urticaria (HP:0001025) | 1.55338936 |
| 157 | Flat capital femoral epiphysis (HP:0003370) | 1.55292058 |
| 158 | Systemic lupus erythematosus (HP:0002725) | 1.53160063 |
| 159 | Recurrent fungal infections (HP:0002841) | 1.51186217 |
| 160 | Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204) | 1.50218629 |
| 161 | Anorexia (HP:0002039) | 1.50031661 |
| 162 | Recurrent skin infections (HP:0001581) | 1.49475066 |
| 163 | Spinal muscular atrophy (HP:0007269) | 1.47242749 |
| 164 | Hypoplastic ischia (HP:0003175) | 1.44364557 |
| 165 | Horizontal nystagmus (HP:0000666) | 1.43974672 |
| 166 | Hypoplasia of the fovea (HP:0007750) | 1.40705388 |
| 167 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.40705388 |
| 168 | Subcapsular cataract (HP:0000523) | 1.40088093 |
| 169 | Myopathic facies (HP:0002058) | 1.39980300 |
| 170 | Persistence of primary teeth (HP:0006335) | 1.39004888 |
| 171 | Epiphyseal dysplasia (HP:0002656) | 1.38824610 |
| 172 | Chronic obstructive pulmonary disease (HP:0006510) | 1.37125196 |
| 173 | Obstructive lung disease (HP:0006536) | 1.37125196 |
| 174 | Distal lower limb muscle weakness (HP:0009053) | 1.34124698 |
| 175 | Submucous cleft hard palate (HP:0000176) | 1.33416704 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PBK | 5.10227360 |
| 2 | GRK1 | 4.30503892 |
| 3 | MAP3K14 | 4.12789415 |
| 4 | IRAK3 | 3.53061397 |
| 5 | TBK1 | 2.85584172 |
| 6 | TESK2 | 2.79416253 |
| 7 | AKT3 | 2.56697571 |
| 8 | PIM2 | 2.49497916 |
| 9 | RIPK4 | 2.39295235 |
| 10 | TAOK3 | 2.33926517 |
| 11 | CHUK | 2.04094916 |
| 12 | TESK1 | 2.04079008 |
| 13 | IKBKB | 2.01806475 |
| 14 | ERBB3 | 1.78821676 |
| 15 | STK24 | 1.77372970 |
| 16 | LIMK1 | 1.77052603 |
| 17 | PINK1 | 1.76792861 |
| 18 | TRPM7 | 1.76703111 |
| 19 | IKBKE | 1.76145509 |
| 20 | GRK7 | 1.75489849 |
| 21 | RPS6KA4 | 1.74803505 |
| 22 | IRAK4 | 1.62602293 |
| 23 | ERN1 | 1.60431154 |
| 24 | TYK2 | 1.57307732 |
| 25 | EIF2AK3 | 1.55642844 |
| 26 | IRAK1 | 1.50103540 |
| 27 | MST4 | 1.49649252 |
| 28 | MAP3K3 | 1.46686157 |
| 29 | MYLK | 1.42708147 |
| 30 | FGR | 1.41003394 |
| 31 | PRPF4B | 1.40955369 |
| 32 | PTK2B | 1.37845022 |
| 33 | TTN | 1.37708773 |
| 34 | PIM1 | 1.36521500 |
| 35 | MET | 1.36488890 |
| 36 | BRSK2 | 1.34960636 |
| 37 | PLK2 | 1.32447191 |
| 38 | NME2 | 1.26974012 |
| 39 | SIK3 | 1.19015224 |
| 40 | JAK1 | 1.17670716 |
| 41 | LATS2 | 1.17545632 |
| 42 | JAK3 | 1.15915847 |
| 43 | MARK3 | 1.15244227 |
| 44 | NME1 | 1.14690599 |
| 45 | IRAK2 | 1.14482907 |
| 46 | MAP3K9 | 1.14259887 |
| 47 | STK38L | 1.08549161 |
| 48 | BLK | 1.08107524 |
| 49 | TXK | 1.06363898 |
| 50 | PIK3CG | 1.06112625 |
| 51 | CAMKK2 | 1.04324291 |
| 52 | ARAF | 1.03447022 |
| 53 | STK3 | 0.99784384 |
| 54 | OBSCN | 0.98649478 |
| 55 | MST1R | 0.95895389 |
| 56 | PTK2 | 0.95325842 |
| 57 | MAP3K13 | 0.94493215 |
| 58 | SCYL2 | 0.94246744 |
| 59 | BMX | 0.91766534 |
| 60 | TGFBR2 | 0.89231890 |
| 61 | CSF1R | 0.85507309 |
| 62 | MOS | 0.85001213 |
| 63 | PKN1 | 0.84938039 |
| 64 | SGK2 | 0.84564288 |
| 65 | ABL2 | 0.84401924 |
| 66 | YES1 | 0.84066928 |
| 67 | EIF2AK2 | 0.83691920 |
| 68 | PDGFRA | 0.81458169 |
| 69 | TEC | 0.80536689 |
| 70 | MAPK11 | 0.80144277 |
| 71 | ZAK | 0.78486651 |
| 72 | PDK2 | 0.76907459 |
| 73 | CCNB1 | 0.75758969 |
| 74 | CDK12 | 0.74920914 |
| 75 | PLK3 | 0.72823854 |
| 76 | RAF1 | 0.70818875 |
| 77 | FER | 0.70477618 |
| 78 | ADRBK2 | 0.70419969 |
| 79 | GRK5 | 0.70408775 |
| 80 | MAPKAPK2 | 0.70058944 |
| 81 | MAPK12 | 0.69784107 |
| 82 | MAPK7 | 0.69145588 |
| 83 | EPHB1 | 0.68839270 |
| 84 | SGK3 | 0.67627179 |
| 85 | NEK9 | 0.67363037 |
| 86 | BMPR2 | 0.67135790 |
| 87 | MAP3K11 | 0.64338636 |
| 88 | CSK | 0.63797547 |
| 89 | RIPK1 | 0.62764320 |
| 90 | MUSK | 0.58519261 |
| 91 | NEK6 | 0.57371769 |
| 92 | KIT | 0.56078352 |
| 93 | PRKCH | 0.54719630 |
| 94 | BRSK1 | 0.53663528 |
| 95 | MAP3K5 | 0.52744421 |
| 96 | SYK | 0.52508878 |
| 97 | ERBB4 | 0.52177096 |
| 98 | ROCK1 | 0.49995243 |
| 99 | DDR2 | 0.49834474 |
| 100 | JAK2 | 0.49344862 |
| 101 | KSR1 | 0.48511511 |
| 102 | ZAP70 | 0.47078382 |
| 103 | MAP3K12 | 0.46393558 |
| 104 | CDC42BPA | 0.45550032 |
| 105 | EPHA2 | 0.45495005 |
| 106 | MATK | 0.45132233 |
| 107 | CAMK2G | 0.44544925 |
| 108 | PDPK1 | 0.42293520 |
| 109 | MAP3K6 | 0.41581586 |
| 110 | PRKCD | 0.41191049 |
| 111 | HCK | 0.40848754 |
| 112 | TAOK2 | 0.40574587 |
| 113 | PRKD1 | 0.40270149 |
| 114 | PAK4 | 0.40146137 |
| 115 | PAK2 | 0.39575879 |
| 116 | MAP3K1 | 0.39335145 |
| 117 | PRKCI | 0.38598351 |
| 118 | DMPK | 0.38158002 |
| 119 | CLK1 | 0.37512283 |
| 120 | PAK6 | 0.37511761 |
| 121 | DAPK3 | 0.37029426 |
| 122 | PRKCZ | 0.36586390 |
| 123 | FGFR3 | 0.36078155 |
| 124 | FRK | 0.35299285 |
| 125 | MAPK4 | 0.35072862 |
| 126 | GSK3A | 0.35052917 |
| 127 | EPHA3 | 0.34489314 |
| 128 | PDK1 | 0.34266553 |
| 129 | ADRBK1 | 0.32483039 |
| 130 | SGK223 | 0.31686216 |
| 131 | SGK494 | 0.31686216 |
| 132 | MAP4K1 | 0.31605921 |
| 133 | SIK2 | 0.31361471 |
| 134 | MAP2K3 | 0.31199252 |
| 135 | PDGFRB | 0.30997169 |
| 136 | PRKACG | 0.30342436 |
| 137 | ABL1 | 0.29751070 |
| 138 | TAOK1 | 0.29581216 |
| 139 | MAPK3 | 0.28453785 |
| 140 | TSSK6 | 0.26885921 |
| 141 | EGFR | 0.26398231 |
| 142 | MAP2K1 | 0.25944979 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Other glycan degradation_Homo sapiens_hsa00511 | 2.50828489 |
| 2 | Graft-versus-host disease_Homo sapiens_hsa05332 | 2.23600900 |
| 3 | Leishmaniasis_Homo sapiens_hsa05140 | 2.13349651 |
| 4 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 2.13130380 |
| 5 | Phototransduction_Homo sapiens_hsa04744 | 10.8204090 |
| 6 | Legionellosis_Homo sapiens_hsa05134 | 1.97845259 |
| 7 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 1.93866775 |
| 8 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.91520757 |
| 9 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 1.90102131 |
| 10 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 1.77185661 |
| 11 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 1.69673417 |
| 12 | Allograft rejection_Homo sapiens_hsa05330 | 1.64685780 |
| 13 | Tuberculosis_Homo sapiens_hsa05152 | 1.61893492 |
| 14 | TNF signaling pathway_Homo sapiens_hsa04668 | 1.59531655 |
| 15 | Osteoclast differentiation_Homo sapiens_hsa04380 | 1.45573588 |
| 16 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.45358491 |
| 17 | Malaria_Homo sapiens_hsa05144 | 1.41174198 |
| 18 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.40986026 |
| 19 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 1.37272300 |
| 20 | Pertussis_Homo sapiens_hsa05133 | 1.36234432 |
| 21 | Salmonella infection_Homo sapiens_hsa05132 | 1.31906556 |
| 22 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.28898854 |
| 23 | Influenza A_Homo sapiens_hsa05164 | 1.27899234 |
| 24 | Phagosome_Homo sapiens_hsa04145 | 1.27292474 |
| 25 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 1.23985543 |
| 26 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 1.23622315 |
| 27 | Measles_Homo sapiens_hsa05162 | 1.18835305 |
| 28 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.13824714 |
| 29 | Toxoplasmosis_Homo sapiens_hsa05145 | 1.06773106 |
| 30 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 1.06303157 |
| 31 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.05890268 |
| 32 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 1.04010285 |
| 33 | Apoptosis_Homo sapiens_hsa04210 | 1.03866949 |
| 34 | Bladder cancer_Homo sapiens_hsa05219 | 1.02956089 |
| 35 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 1.01710858 |
| 36 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.01544289 |
| 37 | Asthma_Homo sapiens_hsa05310 | 0.98582421 |
| 38 | Lysosome_Homo sapiens_hsa04142 | 0.98156892 |
| 39 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.91124452 |
| 40 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.90236171 |
| 41 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.87769795 |
| 42 | Circadian rhythm_Homo sapiens_hsa04710 | 0.85837101 |
| 43 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.84528240 |
| 44 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.83672593 |
| 45 | Olfactory transduction_Homo sapiens_hsa04740 | 0.82922099 |
| 46 | Hepatitis B_Homo sapiens_hsa05161 | 0.80462504 |
| 47 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.80167948 |
| 48 | Viral myocarditis_Homo sapiens_hsa05416 | 0.79484438 |
| 49 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.78094622 |
| 50 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.75871224 |
| 51 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.75550337 |
| 52 | Shigellosis_Homo sapiens_hsa05131 | 0.75342107 |
| 53 | Amoebiasis_Homo sapiens_hsa05146 | 0.75327343 |
| 54 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.72394991 |
| 55 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.71398772 |
| 56 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.67163743 |
| 57 | Hepatitis C_Homo sapiens_hsa05160 | 0.66362144 |
| 58 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.65237496 |
| 59 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.64037162 |
| 60 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.63217519 |
| 61 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.63168801 |
| 62 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.62755544 |
| 63 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.62661060 |
| 64 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.62453214 |
| 65 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.61612727 |
| 66 | Galactose metabolism_Homo sapiens_hsa00052 | 0.60816504 |
| 67 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.60786474 |
| 68 | Mineral absorption_Homo sapiens_hsa04978 | 0.59898566 |
| 69 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.59829268 |
| 70 | Focal adhesion_Homo sapiens_hsa04510 | 0.53540530 |
| 71 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.52048161 |
| 72 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.51959345 |
| 73 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.51338424 |
| 74 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.51013049 |
| 75 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.49099365 |
| 76 | Insulin resistance_Homo sapiens_hsa04931 | 0.47879239 |
| 77 | Platelet activation_Homo sapiens_hsa04611 | 0.44780004 |
| 78 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.43735287 |
| 79 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.43487760 |
| 80 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.41791420 |
| 81 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.41540999 |
| 82 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.40754154 |
| 83 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.39147987 |
| 84 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.37862418 |
| 85 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.37570379 |
| 86 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.37431908 |
| 87 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.36619455 |
| 88 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.36532130 |
| 89 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.35590957 |
| 90 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.34900259 |
| 91 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.33263367 |
| 92 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.32260213 |
| 93 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.32084975 |
| 94 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.31473347 |
| 95 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 0.31371204 |
| 96 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.30373654 |
| 97 | Prion diseases_Homo sapiens_hsa05020 | 0.30146815 |
| 98 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.29380568 |
| 99 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.28695529 |
| 100 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.27931008 |
| 101 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.27883605 |
| 102 | GABAergic synapse_Homo sapiens_hsa04727 | 0.27016271 |
| 103 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.26919532 |
| 104 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.26857131 |
| 105 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.26235968 |
| 106 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.26002960 |
| 107 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.25969443 |
| 108 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.24435633 |
| 109 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.24378546 |
| 110 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.23988245 |
| 111 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.21886543 |
| 112 | HTLV-I infection_Homo sapiens_hsa05166 | 0.21586030 |
| 113 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.21221598 |
| 114 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.21097055 |
| 115 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.20864737 |
| 116 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.20776696 |
| 117 | Endocytosis_Homo sapiens_hsa04144 | 0.20239778 |
| 118 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.19789348 |
| 119 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.17814312 |

