PON2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1presynaptic membrane assembly (GO:0097105)4.84623922
2C4-dicarboxylate transport (GO:0015740)4.79313048
3presynaptic membrane organization (GO:0097090)4.26019855
4central nervous system myelination (GO:0022010)4.25622416
5axon ensheathment in central nervous system (GO:0032291)4.25622416
6postsynaptic membrane organization (GO:0001941)3.93702110
7fatty acid elongation (GO:0030497)3.71608444
8phenol-containing compound catabolic process (GO:0019336)3.69326944
9limb bud formation (GO:0060174)3.55172664
10nonmotile primary cilium assembly (GO:0035058)3.51875212
11oligodendrocyte differentiation (GO:0048709)3.39793914
12auditory behavior (GO:0031223)3.34980005
13pyrimidine nucleobase catabolic process (GO:0006208)3.16084004
14positive regulation by symbiont of host defense response (GO:0052509)3.08326727
15modulation by symbiont of host defense response (GO:0052031)3.08326727
16modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.08326727
17modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.08326727
18positive regulation by organism of defense response of other organism involved in symbiotic interact3.08326727
19modulation by symbiont of host immune response (GO:0052553)3.08326727
20mechanosensory behavior (GO:0007638)3.02575140
21cellular response to cholesterol (GO:0071397)3.01201725
22antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.00365502
23response to nitrosative stress (GO:0051409)2.97025909
24retinal ganglion cell axon guidance (GO:0031290)2.95616268
25branched-chain amino acid catabolic process (GO:0009083)2.95415604
26neuronal action potential propagation (GO:0019227)2.94735305
27neurotransmitter uptake (GO:0001504)2.93982750
28sphingoid metabolic process (GO:0046519)2.91712472
29cholesterol biosynthetic process (GO:0006695)2.90979317
30intraciliary transport (GO:0042073)2.90384736
31sphingosine metabolic process (GO:0006670)2.90319011
32very long-chain fatty acid metabolic process (GO:0000038)2.89946821
33regulation of cardiac muscle cell contraction (GO:0086004)2.86311963
34negative regulation of transcription regulatory region DNA binding (GO:2000678)2.85125691
35glial cell proliferation (GO:0014009)2.84722350
36regulation of interferon-beta biosynthetic process (GO:0045357)2.79874305
37negative regulation of protein localization to cell surface (GO:2000009)2.79829475
38neutrophil activation involved in immune response (GO:0002283)2.76905559
39alpha-linolenic acid metabolic process (GO:0036109)2.76346271
40amyloid precursor protein catabolic process (GO:0042987)2.75697046
41cellular response to sterol (GO:0036315)2.75451080
42vascular smooth muscle contraction (GO:0014829)2.74761790
43positive regulation of cellular amide metabolic process (GO:0034250)2.74143736
44neurotransmitter-gated ion channel clustering (GO:0072578)2.73019863
45cellular response to follicle-stimulating hormone stimulus (GO:0071372)2.71087626
46nucleobase catabolic process (GO:0046113)2.70962290
47diol metabolic process (GO:0034311)2.70781897
48detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.68655672
49amino-acid betaine metabolic process (GO:0006577)2.67692991
50daunorubicin metabolic process (GO:0044597)2.67515343
51polyketide metabolic process (GO:0030638)2.67515343
52doxorubicin metabolic process (GO:0044598)2.67515343
53negative regulation of axon guidance (GO:1902668)2.66530143
54Notch signaling involved in heart development (GO:0061314)2.66341043
55eye photoreceptor cell differentiation (GO:0001754)2.62382286
56photoreceptor cell differentiation (GO:0046530)2.62382286
57sterol biosynthetic process (GO:0016126)2.61932330
58long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)2.61060482
59regulation of lipoprotein metabolic process (GO:0050746)2.60590136
60ethanol metabolic process (GO:0006067)2.59222655
61surfactant homeostasis (GO:0043129)2.53172665
62negative regulation of calcium ion-dependent exocytosis (GO:0045955)2.52771190
63axonal fasciculation (GO:0007413)2.50688557
64response to lipoprotein particle (GO:0055094)2.50002283
65import into cell (GO:0098657)2.47368095
66high-density lipoprotein particle remodeling (GO:0034375)2.46867746
67ethanol oxidation (GO:0006069)2.46741840
68adhesion of symbiont to host cell (GO:0044650)2.45872968
69virion attachment to host cell (GO:0019062)2.45872968
70calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.45326130
71negative regulation of astrocyte differentiation (GO:0048712)2.45223812
72DNA double-strand break processing (GO:0000729)2.44772704
73myelin maintenance (GO:0043217)2.44634214
74antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.44081403
75antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.44081403
76thyroid hormone generation (GO:0006590)2.43969714
77fibroblast migration (GO:0010761)2.43560398
78carnitine metabolic process (GO:0009437)2.43095229
79negative regulation of protein activation cascade (GO:2000258)2.42027067
80negative chemotaxis (GO:0050919)2.41614986
81platelet dense granule organization (GO:0060155)2.41105322
82negative regulation of neurotransmitter transport (GO:0051589)2.40072631
83fatty-acyl-CoA biosynthetic process (GO:0046949)2.38838490
84serine family amino acid catabolic process (GO:0009071)2.38827968
85linoleic acid metabolic process (GO:0043651)2.36923056
86regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.36718151
87long-chain fatty-acyl-CoA metabolic process (GO:0035336)2.35544921
88amyloid precursor protein metabolic process (GO:0042982)2.35007484
89nephron tubule formation (GO:0072079)2.34802867
90fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.34537443
91response to auditory stimulus (GO:0010996)2.34122905
92membrane raft organization (GO:0031579)2.33484282
93fatty-acyl-CoA metabolic process (GO:0035337)2.33466598
94detection of molecule of bacterial origin (GO:0032490)2.32645573
95negative regulation of axon extension involved in axon guidance (GO:0048843)2.31940333
96positive regulation of chemokine secretion (GO:0090197)2.31270983
97phospholipid homeostasis (GO:0055091)2.30915500
98regulation of protein glycosylation (GO:0060049)2.30273228
99regulation of triglyceride catabolic process (GO:0010896)2.29022566
100cilium morphogenesis (GO:0060271)2.28529244
101adhesion of symbiont to host (GO:0044406)2.28420412
102cellular potassium ion homeostasis (GO:0030007)2.28174083
103positive regulation of osteoblast proliferation (GO:0033690)2.27885387
104inner ear receptor stereocilium organization (GO:0060122)2.27389689
105microglial cell activation (GO:0001774)2.27313656
106creatine metabolic process (GO:0006600)2.26362085
107phospholipid efflux (GO:0033700)2.26236342
108cilium assembly (GO:0042384)2.26154157
109triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.26129342
110cilium organization (GO:0044782)2.25402390
111primary alcohol catabolic process (GO:0034310)2.25064642
112macrophage activation involved in immune response (GO:0002281)2.24571602
113signal peptide processing (GO:0006465)2.24570336
114cerebral cortex radially oriented cell migration (GO:0021799)2.24030722
115astrocyte differentiation (GO:0048708)2.23255725
116detection of external biotic stimulus (GO:0098581)2.22992480
117positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.22967913
118low-density lipoprotein particle remodeling (GO:0034374)2.22369458
119neuron recognition (GO:0008038)2.22277110
120replication fork processing (GO:0031297)2.21831564
121somite development (GO:0061053)2.21519624
122positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.21500858
123membrane assembly (GO:0071709)2.21491318
124T-helper 1 type immune response (GO:0042088)2.21317833
125sulfur amino acid catabolic process (GO:0000098)2.21231098
126neuron cell-cell adhesion (GO:0007158)2.21055472
127positive regulation of toll-like receptor signaling pathway (GO:0034123)2.19956251
128plasma lipoprotein particle assembly (GO:0034377)2.19895029
129nucleotide transmembrane transport (GO:1901679)2.19506894
130positive regulation of heterotypic cell-cell adhesion (GO:0034116)2.19317857
131negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.18703106
132very-low-density lipoprotein particle assembly (GO:0034379)2.18673487
133regulation of axon guidance (GO:1902667)2.18616657
134negative regulation of cytosolic calcium ion concentration (GO:0051481)2.18103503
135positive regulation of interferon-alpha production (GO:0032727)2.17726651
136cellular glucuronidation (GO:0052695)2.17621529
137positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.17520650
138antigen processing and presentation of endogenous antigen (GO:0019883)2.17306342
139Sertoli cell development (GO:0060009)2.17278866
140epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.15403022
141negative regulation of response to reactive oxygen species (GO:1901032)2.15257194
142membrane protein intracellular domain proteolysis (GO:0031293)2.15143684
143regulation of dendritic spine morphogenesis (GO:0061001)2.14963929
144glutathione derivative metabolic process (GO:1901685)2.14766850
145glutathione derivative biosynthetic process (GO:1901687)2.14766850
146aldehyde catabolic process (GO:0046185)2.14390674
147appendage development (GO:0048736)2.14195247
148limb development (GO:0060173)2.14195247
149phagocytosis, recognition (GO:0006910)2.14061153
150regulation of neurotransmitter uptake (GO:0051580)2.13919539
151negative regulation of hydrogen peroxide-induced cell death (GO:1903206)2.13886995
152detection of other organism (GO:0098543)2.13746049
153regulation of cholesterol esterification (GO:0010872)2.12778028
154protein heterotetramerization (GO:0051290)2.12612424
155potassium ion import (GO:0010107)2.12462159
156uronic acid metabolic process (GO:0006063)2.11819539
157glucuronate metabolic process (GO:0019585)2.11819539
158astrocyte development (GO:0014002)2.11388101
159bile acid biosynthetic process (GO:0006699)2.10904339
160cranial nerve development (GO:0021545)2.10857294
161regulation of interferon-alpha production (GO:0032647)2.10502115
162aminoglycoside antibiotic metabolic process (GO:0030647)2.10480280
163positive regulation of male gonad development (GO:2000020)2.10325242
164negative regulation of lipid storage (GO:0010888)2.10248103
165cellular response to leptin stimulus (GO:0044320)2.10179045
166apoptotic cell clearance (GO:0043277)2.09930598
167cerebral cortex cell migration (GO:0021795)2.09917939
168glial cell differentiation (GO:0010001)2.09265289
169dicarboxylic acid biosynthetic process (GO:0043650)2.09089652
170lysine metabolic process (GO:0006553)2.09073367
171positive regulation of triglyceride metabolic process (GO:0090208)2.09059940
172regulation of heat generation (GO:0031650)2.08780842
173regulation of cholesterol biosynthetic process (GO:0045540)2.08201816
174positive regulation of cellular amine metabolic process (GO:0033240)2.07922139
175L-amino acid import (GO:0043092)2.06768902
176cellular response to exogenous dsRNA (GO:0071360)2.06661066
177positive regulation of monocyte chemotaxis (GO:0090026)2.06216368
178negative regulation of lipase activity (GO:0060192)2.05690651
179purine nucleotide transport (GO:0015865)2.04890681
180desmosome organization (GO:0002934)2.04483908
181negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.04303488
182response to host immune response (GO:0052572)2.04070645
183response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.04070645
184response to muramyl dipeptide (GO:0032495)2.03927321
185neutrophil activation (GO:0042119)2.03740394
186hormone catabolic process (GO:0042447)2.03708250
187thioester biosynthetic process (GO:0035384)2.02695686
188acyl-CoA biosynthetic process (GO:0071616)2.02695686
189reverse cholesterol transport (GO:0043691)2.01990582
190response to methylmercury (GO:0051597)2.01336076
191purine ribonucleotide transport (GO:0015868)2.00982976

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human3.65647143
2GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.51847358
3ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.47364705
4TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.44670029
5GBX2_23144817_ChIP-Seq_PC3_Human3.18813071
6IRF8_22096565_ChIP-ChIP_GC-B_Human3.03557225
7ZFP57_27257070_Chip-Seq_ESCs_Mouse2.93502917
8SALL1_21062744_ChIP-ChIP_HESCs_Human2.92668429
9* PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.79355545
10CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.76479148
11POU3F2_20337985_ChIP-ChIP_501MEL_Human2.64920266
12FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.60645911
13RXR_22158963_ChIP-Seq_LIVER_Mouse2.48567711
14IRF8_21731497_ChIP-ChIP_J774_Mouse2.41145795
15RBPJ_22232070_ChIP-Seq_NCS_Mouse2.36561821
16TAF15_26573619_Chip-Seq_HEK293_Human2.35708034
17IRF8_27001747_Chip-Seq_BMDM_Mouse2.35329147
18LXR_22158963_ChIP-Seq_LIVER_Mouse2.34840334
19EGR1_23403033_ChIP-Seq_LIVER_Mouse2.33052991
20BP1_19119308_ChIP-ChIP_Hs578T_Human2.25596533
21IGF1R_20145208_ChIP-Seq_DFB_Human2.25305677
22* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.24315457
23IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.22340304
24STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.19351098
25PPARA_22158963_ChIP-Seq_LIVER_Mouse2.17462904
26* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.17414259
27ZNF274_21170338_ChIP-Seq_K562_Hela2.16511642
28P300_19829295_ChIP-Seq_ESCs_Human2.15552861
29AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.13942176
30CTBP2_25329375_ChIP-Seq_LNCAP_Human2.13699619
31* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.13409705
32TRIM28_21343339_ChIP-Seq_HEK293_Human2.03807844
33EWS_26573619_Chip-Seq_HEK293_Human2.03428924
34EZH2_22144423_ChIP-Seq_EOC_Human2.00059865
35PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.97120661
36PIAS1_25552417_ChIP-Seq_VCAP_Human1.93842839
37* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.93760390
38ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.92121012
39FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.90832211
40TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.89092621
41FUS_26573619_Chip-Seq_HEK293_Human1.88743673
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.88661577
43GATA2_21666600_ChIP-Seq_HMVEC_Human1.87245058
44OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.87203014
45RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.85778743
46CDX2_19796622_ChIP-Seq_MESCs_Mouse1.82894542
47STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.82578986
48SMAD4_21799915_ChIP-Seq_A2780_Human1.77785777
49RUNX_20019798_ChIP-Seq_JUKART_Human1.75502386
50HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.73543912
51MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.73054587
52SCL_19346495_ChIP-Seq_HPC-7_Human1.69797841
53SOX2_20726797_ChIP-Seq_SW620_Human1.65689893
54E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.65131427
55CTBP1_25329375_ChIP-Seq_LNCAP_Human1.64823049
56SMAD3_21741376_ChIP-Seq_EPCs_Human1.63248984
57* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.61818734
58SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.60643364
59MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.60499201
60GATA1_22025678_ChIP-Seq_K562_Human1.58719685
61IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.58471441
62FLI1_27457419_Chip-Seq_LIVER_Mouse1.57549454
63VDR_22108803_ChIP-Seq_LS180_Human1.56700949
64AR_25329375_ChIP-Seq_VCAP_Human1.52470618
65NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.50778600
66MYB_21317192_ChIP-Seq_ERMYB_Mouse1.49979890
67RARG_19884340_ChIP-ChIP_MEFs_Mouse1.48006456
68STAT3_23295773_ChIP-Seq_U87_Human1.47368728
69BCAT_22108803_ChIP-Seq_LS180_Human1.46278575
70* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.45968002
71NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.45908439
72TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.45890207
73FOXO3_23340844_ChIP-Seq_DLD1_Human1.44161904
74VDR_24787735_ChIP-Seq_THP-1_Human1.43682510
75ESR2_21235772_ChIP-Seq_MCF-7_Human1.43396290
76* ER_23166858_ChIP-Seq_MCF-7_Human1.43333460
77P63_26484246_Chip-Seq_KERATINOCYTES_Human1.42941182
78EZH2_27294783_Chip-Seq_NPCs_Mouse1.42158704
79NANOG_18555785_Chip-Seq_ESCs_Mouse1.41828251
80PCGF2_27294783_Chip-Seq_ESCs_Mouse1.41638307
81THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.41590470
82* SOX2_27498859_Chip-Seq_STOMACH_Mouse1.41270815
83CBX2_27304074_Chip-Seq_ESCs_Mouse1.41097017
84LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.41046305
85SUZ12_27294783_Chip-Seq_NPCs_Mouse1.40509858
86TOP2B_26459242_ChIP-Seq_MCF-7_Human1.39531868
87UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.39453568
88EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.37162317
89GATA4_25053715_ChIP-Seq_YYC3_Human1.36526660
90STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.35105490
91SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.34670464
92KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.33871369
93ESR1_20079471_ChIP-ChIP_T-47D_Human1.32013672
94STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.31917904
95PPAR_26484153_Chip-Seq_NCI-H1993_Human1.31917018
96NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.29930101
97NRF2_20460467_ChIP-Seq_MEFs_Mouse1.29930101
98TCF4_22108803_ChIP-Seq_LS180_Human1.28927616
99CJUN_26792858_Chip-Seq_BT549_Human1.28823986
100PCGF2_27294783_Chip-Seq_NPCs_Mouse1.28334417
101FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.27967797
102PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.26752438
103CDX2_20551321_ChIP-Seq_CACO-2_Human1.25768592
104CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25459034
105P53_22387025_ChIP-Seq_ESCs_Mouse1.25033026
106TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.24102577
107EP300_21415370_ChIP-Seq_HL-1_Mouse1.23180614
108KLF5_20875108_ChIP-Seq_MESCs_Mouse1.22227701
109RUNX2_22187159_ChIP-Seq_PCA_Human1.22040172
110TP53_16413492_ChIP-PET_HCT116_Human1.21989185
111TCF4_23295773_ChIP-Seq_U87_Human1.21797458
112* RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.21492904
113PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.21433159
114CBP_20019798_ChIP-Seq_JUKART_Human1.21145189
115IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.21145189
116CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.19834162
117VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.18869914
118TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.18223145
119TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17839500
120POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.17839500
121FOXM1_26456572_ChIP-Seq_MCF-7_Human1.17618975
122SOX9_26525672_Chip-Seq_HEART_Mouse1.17555574
123NFE2_27457419_Chip-Seq_LIVER_Mouse1.17469449
124ESR1_21235772_ChIP-Seq_MCF-7_Human1.16617858
125ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.16241095
126CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.14545901
127AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.12626391
128TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12603790
129RNF2_27304074_Chip-Seq_NSC_Mouse1.12385179
130E2F1_18555785_Chip-Seq_ESCs_Mouse1.11867943
131MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.10338095
132TAL1_26923725_Chip-Seq_HPCs_Mouse1.10204519
133NANOG_19829295_ChIP-Seq_ESCs_Human1.10056839
134SOX2_19829295_ChIP-Seq_ESCs_Human1.10056839
135GATA1_19941826_ChIP-Seq_K562_Human1.09529303
136CRX_20693478_ChIP-Seq_RETINA_Mouse1.09372382
137BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.08864972
138POU5F1_16153702_ChIP-ChIP_HESCs_Human1.08752949
139GATA2_19941826_ChIP-Seq_K562_Human1.08733047
140* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.08650983
141SOX2_21211035_ChIP-Seq_LN229_Gbm1.07810830
142* SOX9_24532713_ChIP-Seq_HFSC_Mouse1.07450117
143* STAT4_19710469_ChIP-ChIP_TH1__Mouse1.07223879
144SUZ12_18555785_Chip-Seq_ESCs_Mouse1.07071221
145CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.06299623
146SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.06133532
147CMYC_18555785_Chip-Seq_ESCs_Mouse1.06045497
148NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.05610818
149SMAD_19615063_ChIP-ChIP_OVARY_Human1.05432709
150CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.05248736
151CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.04704378
152TBX3_20139965_ChIP-Seq_ESCs_Mouse1.04683990
153TBX3_20139965_ChIP-Seq_MESCs_Mouse1.04347617
154TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.04138358
155ZNF217_24962896_ChIP-Seq_MCF-7_Human1.03405477
156NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.02595209
157CLOCK_20551151_ChIP-Seq_293T_Human1.02321729
158TP53_18474530_ChIP-ChIP_U2OS_Human1.01747233
159SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.01586676
160SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.00682686
161CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.98916647
162RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.98541568
163NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.98384492
164PU_27001747_Chip-Seq_BMDM_Mouse0.97296352
165SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.96283980
166SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.96283980
167TP63_23658742_ChIP-Seq_EP156T_Human0.96024607
168SALL4_18804426_ChIP-ChIP_XEN_Mouse0.95079969
169BRD4_27068464_Chip-Seq_AML-cells_Mouse0.94760234
170GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.94576260
171CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.94159150
172* FOXA2_19822575_ChIP-Seq_HepG2_Human0.93889532
173FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.92621978
174GATA1_19941827_ChIP-Seq_MEL_Mouse0.92291389
175* RXR_22108803_ChIP-Seq_LS180_Human0.92128693
176JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.89684038
177VDR_24763502_ChIP-Seq_THP-1_Human0.89423596
178GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89243619
179EGR1_19032775_ChIP-ChIP_M12_Human0.87966956
180SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86884209
181EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.85376119
182* LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.85083795
183JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.84358870
184MYB_26560356_Chip-Seq_TH2_Human0.84291573
185* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.83803425
186AR_21572438_ChIP-Seq_LNCaP_Human0.79776729
187FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.78774330
188CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.78428663
189TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.77747043

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005171_absent_coat_pigmentation3.30013870
2MP0003191_abnormal_cellular_cholesterol3.06620777
3MP0003880_abnormal_central_pattern3.04839292
4MP0003724_increased_susceptibility_to2.75787778
5MP0008004_abnormal_stomach_pH2.72893610
6MP0005058_abnormal_lysosome_morphology2.56094489
7MP0002736_abnormal_nociception_after2.51595229
8MP0003690_abnormal_glial_cell2.40086318
9MP0009840_abnormal_foam_cell2.38881990
10MP0003136_yellow_coat_color2.34759910
11MP0003300_gastrointestinal_ulcer2.26586293
12MP0008875_abnormal_xenobiotic_pharmacok2.16296839
13MP0001984_abnormal_olfaction2.11045546
14MP0002234_abnormal_pharynx_morphology2.09125764
15MP0003950_abnormal_plasma_membrane2.05693948
16MP0004147_increased_porphyrin_level2.00883193
17MP0003656_abnormal_erythrocyte_physiolo2.00733631
18MP0003122_maternal_imprinting1.99667176
19MP0002938_white_spotting1.98916469
20MP0000920_abnormal_myelination1.98465339
21MP0002139_abnormal_hepatobiliary_system1.98028984
22MP0005253_abnormal_eye_physiology1.92346236
23MP0003868_abnormal_feces_composition1.91861402
24MP0006072_abnormal_retinal_apoptosis1.90426574
25MP0000778_abnormal_nervous_system1.89703937
26MP0005248_abnormal_Harderian_gland1.82949680
27MP0001835_abnormal_antigen_presentation1.82262239
28MP0005365_abnormal_bile_salt1.82099793
29* MP0002419_abnormal_innate_immunity1.79061036
30MP0002233_abnormal_nose_morphology1.73232032
31MP0005551_abnormal_eye_electrophysiolog1.73158815
32MP0003436_decreased_susceptibility_to1.72112760
33MP0003806_abnormal_nucleotide_metabolis1.68583151
34MP0000516_abnormal_urinary_system1.67631348
35MP0005367_renal/urinary_system_phenotyp1.67631348
36MP0002796_impaired_skin_barrier1.66821485
37MP0001529_abnormal_vocalization1.66223873
38MP0002254_reproductive_system_inflammat1.66075570
39MP0001486_abnormal_startle_reflex1.65642404
40MP0002148_abnormal_hypersensitivity_rea1.64510123
41MP0008789_abnormal_olfactory_epithelium1.64169280
42MP0009785_altered_susceptibility_to1.63835829
43MP0001790_abnormal_immune_system1.62453610
44MP0005387_immune_system_phenotype1.62453610
45MP0005025_abnormal_response_to1.61938782
46MP0002138_abnormal_hepatobiliary_system1.59189129
47MP0005360_urolithiasis1.58370152
48MP0001968_abnormal_touch/_nociception1.58337686
49MP0005085_abnormal_gallbladder_physiolo1.54867307
50MP0004381_abnormal_hair_follicle1.54241360
51MP0002638_abnormal_pupillary_reflex1.52486631
52MP0000566_synostosis1.52426796
53MP0009764_decreased_sensitivity_to1.51724078
54MP0003195_calcinosis1.51359466
55MP0000685_abnormal_immune_system1.51083614
56MP0000383_abnormal_hair_follicle1.51037850
57MP0005464_abnormal_platelet_physiology1.49273101
58MP0006082_CNS_inflammation1.48548586
59* MP0003186_abnormal_redox_activity1.48338326
60MP0002282_abnormal_trachea_morphology1.47623770
61MP0005646_abnormal_pituitary_gland1.46345090
62MP0006292_abnormal_olfactory_placode1.46140246
63MP0000465_gastrointestinal_hemorrhage1.45888243
64MP0001853_heart_inflammation1.45240608
65MP0001666_abnormal_nutrient_absorption1.44994662
66MP0001873_stomach_inflammation1.43953208
67MP0004272_abnormal_basement_membrane1.41954339
68MP0005000_abnormal_immune_tolerance1.41273080
69MP0003755_abnormal_palate_morphology1.39828379
70MP0005671_abnormal_response_to1.38136844
71MP0003303_peritoneal_inflammation1.38002787
72MP0003453_abnormal_keratinocyte_physiol1.36196003
73MP0001533_abnormal_skeleton_physiology1.35356014
74MP0003075_altered_response_to1.33826246
75MP0003011_delayed_dark_adaptation1.33602740
76MP0003937_abnormal_limbs/digits/tail_de1.33424148
77MP0000343_altered_response_to1.33296315
78MP0004947_skin_inflammation1.32118363
79MP0009780_abnormal_chondrocyte_physiolo1.31941641
80MP0001958_emphysema1.30678996
81MP0005423_abnormal_somatic_nervous1.30330667
82MP0010678_abnormal_skin_adnexa1.30194744
83MP0005187_abnormal_penis_morphology1.30079186
84MP0001293_anophthalmia1.28378221
85MP0004885_abnormal_endolymph1.27822060
86MP0005391_vision/eye_phenotype1.27013898
87MP0002751_abnormal_autonomic_nervous1.26594498
88MP0009384_cardiac_valve_regurgitation1.26416733
89MP0002098_abnormal_vibrissa_morphology1.25844543
90MP0002090_abnormal_vision1.25550790
91MP0004782_abnormal_surfactant_physiolog1.25441966
92* MP0002452_abnormal_antigen_presenting1.25255103
93MP0010155_abnormal_intestine_physiology1.23422876
94MP0005167_abnormal_blood-brain_barrier1.23416926
95MP0002723_abnormal_immune_serum1.22793660
96MP0001879_abnormal_lymphatic_vessel1.22039306
97MP0003121_genomic_imprinting1.21285245
98MP0003252_abnormal_bile_duct1.20798465
99MP0004859_abnormal_synaptic_plasticity1.19493153
100MP0002166_altered_tumor_susceptibility1.17685380
101MP0005451_abnormal_body_composition1.17072560
102MP0002132_abnormal_respiratory_system1.16904917
103MP0004270_analgesia1.16701268
104* MP0008469_abnormal_protein_level1.16659331
105MP0001800_abnormal_humoral_immune1.13286499
106MP0005083_abnormal_biliary_tract1.13259139
107MP0006054_spinal_hemorrhage1.12568471
108MP0000569_abnormal_digit_pigmentation1.12057855
109* MP0010329_abnormal_lipoprotein_level1.11907333
110MP0002557_abnormal_social/conspecific_i1.11720867
111MP0005499_abnormal_olfactory_system1.11504949
112MP0005394_taste/olfaction_phenotype1.11504949
113MP0000026_abnormal_inner_ear1.08796000
114MP0005165_increased_susceptibility_to1.08004426
115MP0001851_eye_inflammation1.07580516
116MP0001845_abnormal_inflammatory_respons1.07210089
117MP0005164_abnormal_response_to1.07191233
118MP0006276_abnormal_autonomic_nervous1.05161134
119* MP0002118_abnormal_lipid_homeostasis1.04660766
120* MP0002420_abnormal_adaptive_immunity1.04278855
121MP0003828_pulmonary_edema1.04148948
122MP0008438_abnormal_cutaneous_collagen1.04048436
123* MP0001819_abnormal_immune_cell1.03953978
124MP0001177_atelectasis1.03270310
125MP0005195_abnormal_posterior_eye1.02577049
126MP0002295_abnormal_pulmonary_circulatio1.02311300
127MP0002272_abnormal_nervous_system1.02015414
128MP0000647_abnormal_sebaceous_gland0.98931660
129MP0002734_abnormal_mechanical_nocicepti0.98862379
130MP0005332_abnormal_amino_acid0.98419094
131MP0002998_abnormal_bone_remodeling0.98237047
132MP0001299_abnormal_eye_distance/0.98057574
133MP0009697_abnormal_copulation0.96084026
134MP0005166_decreased_susceptibility_to0.95985614
135MP0005501_abnormal_skin_physiology0.95266645
136MP0003279_aneurysm0.94382572
137MP0000955_abnormal_spinal_cord0.93706764
138MP0002697_abnormal_eye_size0.93531757
139MP0001346_abnormal_lacrimal_gland0.93339182
140MP0002006_tumorigenesis0.92830114
141MP0002060_abnormal_skin_morphology0.92746560
142MP0002277_abnormal_respiratory_mucosa0.92629996
143MP0001216_abnormal_epidermal_layer0.92606959
144MP0000049_abnormal_middle_ear0.92384578
145MP0005275_abnormal_skin_tensile0.91675199
146MP0002102_abnormal_ear_morphology0.91251168
147MP0001324_abnormal_eye_pigmentation0.91066991
148MP0005408_hypopigmentation0.90833337
149MP0001963_abnormal_hearing_physiology0.90674088
150MP0004185_abnormal_adipocyte_glucose0.90434262
151MP0000609_abnormal_liver_physiology0.90371421
152MP0000427_abnormal_hair_cycle0.89368810
153MP0009763_increased_sensitivity_to0.89128635
154MP0003878_abnormal_ear_physiology0.88934395
155MP0005377_hearing/vestibular/ear_phenot0.88934395
156MP0001764_abnormal_homeostasis0.88856252
157MP0000631_abnormal_neuroendocrine_gland0.88262763
158MP0000604_amyloidosis0.88169108
159MP0001286_abnormal_eye_development0.87934091
160MP0004133_heterotaxia0.87301159
161MP0002933_joint_inflammation0.87152410
162MP0010368_abnormal_lymphatic_system0.86912784
163MP0000534_abnormal_ureter_morphology0.85967015
164MP0003566_abnormal_cell_adhesion0.85888230
165MP0009053_abnormal_anal_canal0.85303922
166MP0000372_irregular_coat_pigmentation0.85275364
167MP0009643_abnormal_urine_homeostasis0.85047092
168MP0002752_abnormal_somatic_nervous0.85005759
169MP0002572_abnormal_emotion/affect_behav0.83675320
170MP0010030_abnormal_orbit_morphology0.83658404
171MP0003935_abnormal_craniofacial_develop0.81282214
172MP0009745_abnormal_behavioral_response0.80885558
173MP0002092_abnormal_eye_morphology0.80108385
174MP0003385_abnormal_body_wall0.79910684
175MP0000538_abnormal_urinary_bladder0.78883445
176MP0003942_abnormal_urinary_system0.78007232
177MP0002067_abnormal_sensory_capabilities0.77561825
178MP0004215_abnormal_myocardial_fiber0.76520763
179MP0003633_abnormal_nervous_system0.76175182
180MP0002064_seizures0.76056483
181MP0001485_abnormal_pinna_reflex0.75444681

Predicted human phenotypes

RankGene SetZ-score
1Parakeratosis (HP:0001036)4.20115671
2Vacuolated lymphocytes (HP:0001922)3.70905593
3Hemiparesis (HP:0001269)3.43851339
4True hermaphroditism (HP:0010459)3.43359720
5Onycholysis (HP:0001806)3.41386357
6Hyperglycinemia (HP:0002154)3.34709075
7Axonal loss (HP:0003447)3.25687400
8Medial flaring of the eyebrow (HP:0010747)3.15030824
9Increased neuronal autofluorescent lipopigment (HP:0002074)3.10588845
10Recurrent abscess formation (HP:0002722)3.08013892
11Eczematoid dermatitis (HP:0000976)3.03884578
12Gait imbalance (HP:0002141)3.01003494
13Increased cerebral lipofuscin (HP:0011813)2.99714463
14Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.95885333
15Congenital primary aphakia (HP:0007707)2.94853507
16Intestinal atresia (HP:0011100)2.93970047
17Abnormality of macrophages (HP:0004311)2.87781037
18Neurofibrillary tangles (HP:0002185)2.85194699
19Chronic otitis media (HP:0000389)2.83371513
20Genital tract atresia (HP:0001827)2.80519174
21Systemic lupus erythematosus (HP:0002725)2.80250623
22Dysostosis multiplex (HP:0000943)2.79356768
23Recurrent bacterial skin infections (HP:0005406)2.77499892
24Vascular calcification (HP:0004934)2.77423219
25Pancreatic fibrosis (HP:0100732)2.73102634
26Vaginal atresia (HP:0000148)2.69536831
27Bifid tongue (HP:0010297)2.67478643
28Recurrent gram-negative bacterial infections (HP:0005420)2.66121187
29Amyloidosis (HP:0011034)2.65081011
30Hepatosplenomegaly (HP:0001433)2.63598727
31Abnormality of glycine metabolism (HP:0010895)2.63188137
32Abnormality of serine family amino acid metabolism (HP:0010894)2.63188137
33Hyperglycinuria (HP:0003108)2.62106657
34Hyperlipoproteinemia (HP:0010980)2.58477240
35Intrahepatic cholestasis (HP:0001406)2.57768210
36Xanthomatosis (HP:0000991)2.57766480
37Renal hypoplasia (HP:0000089)2.56979812
38Abnormality of secondary sexual hair (HP:0009888)2.56777038
39Abnormality of the axillary hair (HP:0100134)2.56777038
40Postaxial hand polydactyly (HP:0001162)2.53724972
41Nephrogenic diabetes insipidus (HP:0009806)2.51452950
42Cardiovascular calcification (HP:0011915)2.51290954
43Pancreatic cysts (HP:0001737)2.49522565
44Myocardial infarction (HP:0001658)2.45617968
45Prolonged partial thromboplastin time (HP:0003645)2.42837516
46Purpura (HP:0000979)2.42703670
47Interstitial pulmonary disease (HP:0006530)2.40859840
48Hypobetalipoproteinemia (HP:0003563)2.40585111
49Abnormality of midbrain morphology (HP:0002418)2.40270843
50Molar tooth sign on MRI (HP:0002419)2.40270843
51Urticaria (HP:0001025)2.40107298
52Occipital encephalocele (HP:0002085)2.35320708
53Broad foot (HP:0001769)2.34615041
54Loss of speech (HP:0002371)2.34506532
55Clumsiness (HP:0002312)2.33450556
56Recurrent skin infections (HP:0001581)2.32840955
57Vitreoretinal degeneration (HP:0000655)2.30008175
58Elevated erythrocyte sedimentation rate (HP:0003565)2.28585613
59Abnormality of aromatic amino acid family metabolism (HP:0004338)2.27430999
60Increased corneal curvature (HP:0100692)2.25816550
61Keratoconus (HP:0000563)2.25816550
62Focal motor seizures (HP:0011153)2.24070208
63Aplasia/Hypoplasia of the tongue (HP:0010295)2.23466660
64Urinary glycosaminoglycan excretion (HP:0003541)2.23010296
65Mucopolysacchariduria (HP:0008155)2.23010296
66Gingival bleeding (HP:0000225)2.22762698
67Joint hemorrhage (HP:0005261)2.22310251
68Petechiae (HP:0000967)2.22193104
69Pustule (HP:0200039)2.19236100
70Postaxial foot polydactyly (HP:0001830)2.18523561
71Hypolipoproteinemia (HP:0010981)2.16616345
72Congenital ichthyosiform erythroderma (HP:0007431)2.14948598
73Abnormality of glycosaminoglycan metabolism (HP:0004371)2.13683187
74Abnormality of mucopolysaccharide metabolism (HP:0011020)2.13683187
75Abnormality of polysaccharide metabolism (HP:0011012)2.13683187
76Cutaneous finger syndactyly (HP:0010554)2.12852969
77Patchy hypopigmentation of hair (HP:0011365)2.12593095
78Ileus (HP:0002595)2.10853065
79Aplasia/Hypoplasia of the tibia (HP:0005772)2.10575169
80Gastrointestinal atresia (HP:0002589)2.08342010
81Segmental peripheral demyelination/remyelination (HP:0003481)2.07665727
82Short tibia (HP:0005736)2.07502193
83Tetraparesis (HP:0002273)2.06914648
84Hypoglycemic coma (HP:0001325)2.05326812
85Complement deficiency (HP:0004431)2.05196720
86White forelock (HP:0002211)2.03842978
87Nephronophthisis (HP:0000090)2.03092603
88Astrocytoma (HP:0009592)2.02963222
89Abnormality of the astrocytes (HP:0100707)2.02963222
90Progressive neurologic deterioration (HP:0002344)2.02132195
91Chorioretinal atrophy (HP:0000533)1.99274959
92Stomatitis (HP:0010280)1.99090756
93Hemiplegia (HP:0002301)1.98921765
94Abnormality of serum amino acid levels (HP:0003112)1.98463363
95Anophthalmia (HP:0000528)1.98113116
96Hemorrhage of the eye (HP:0011885)1.97768922
97Megalencephaly (HP:0001355)1.97626821
98Thick nail (HP:0001805)1.97246576
99Median cleft lip (HP:0000161)1.96672741
100Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.96288449
101Spastic paraparesis (HP:0002313)1.96110208
102Plantar hyperkeratosis (HP:0007556)1.95581825
103Autoimmune thrombocytopenia (HP:0001973)1.95266668
104Hydroxyprolinuria (HP:0003080)1.95228605
105Abnormality of proline metabolism (HP:0010907)1.95228605
106Esophageal varix (HP:0002040)1.93795652
107Supernumerary spleens (HP:0009799)1.93708965
108Increased serum ferritin (HP:0003281)1.93431829
109Split foot (HP:0001839)1.92094252
110Glomerulonephritis (HP:0000099)1.91283674
111Abnormality of the renal medulla (HP:0100957)1.91015998
112Oligodactyly (hands) (HP:0001180)1.90951981
113Epistaxis (HP:0000421)1.88997021
114Poor coordination (HP:0002370)1.88305374
115Chronic hepatic failure (HP:0100626)1.88264841
116Prolonged bleeding time (HP:0003010)1.87278793
117Myositis (HP:0100614)1.86037653
118Spontaneous hematomas (HP:0007420)1.84353502
119Osteolytic defects of the hand bones (HP:0009699)1.82523693
120Osteolytic defects of the phalanges of the hand (HP:0009771)1.82523693
121Neonatal short-limb short stature (HP:0008921)1.82361149
122Glioma (HP:0009733)1.82173350
123Abnormality of the ischium (HP:0003174)1.81770061
124Abnormality of aspartate family amino acid metabolism (HP:0010899)1.81285434
125Acanthocytosis (HP:0001927)1.79836171
126Preaxial hand polydactyly (HP:0001177)1.79366396
127Abnormality of glycolipid metabolism (HP:0010969)1.79265086
128Abnormality of liposaccharide metabolism (HP:0010968)1.79265086
129Abnormality of glycosphingolipid metabolism (HP:0004343)1.79265086
130Hyperammonemia (HP:0001987)1.79243537
131Papillary thyroid carcinoma (HP:0002895)1.79155795
132Cystic liver disease (HP:0006706)1.78742178
133Premature skin wrinkling (HP:0100678)1.78733534
134Menorrhagia (HP:0000132)1.78186403
135Volvulus (HP:0002580)1.77750217
136Erythroderma (HP:0001019)1.77720768
137Hypoalphalipoproteinemia (HP:0003233)1.77394631
138Pancreatic islet-cell hyperplasia (HP:0004510)1.77345048
139Renal cortical cysts (HP:0000803)1.76978122
140Fat malabsorption (HP:0002630)1.76718020
141Hyperventilation (HP:0002883)1.76407185
142Steatorrhea (HP:0002570)1.75237443
143Deep venous thrombosis (HP:0002625)1.75186100
144Hepatoblastoma (HP:0002884)1.75145018
145Abnormality of fatty-acid metabolism (HP:0004359)1.75114823
146Ectropion (HP:0000656)1.74957417
147Coronal craniosynostosis (HP:0004440)1.74765403
148Specific learning disability (HP:0001328)1.74671257
149Orchitis (HP:0100796)1.74671136
150Polycythemia (HP:0001901)1.74605620
151Aplasia/Hypoplasia of the fibula (HP:0006492)1.74243081
152Abolished electroretinogram (ERG) (HP:0000550)1.73505098
153Aplasia/Hypoplasia of the lens (HP:0008063)1.72373424
154Inflammation of the large intestine (HP:0002037)1.72156021
155Vasculitis (HP:0002633)1.71865595
156Synostosis involving the elbow (HP:0003938)1.70505217
157Humeroradial synostosis (HP:0003041)1.70505217
158Epidermoid cyst (HP:0200040)1.70308838
159Abnormality of glycolysis (HP:0004366)1.69802702
160Action tremor (HP:0002345)1.69466753
161Chronic diarrhea (HP:0002028)1.69311890
162Pulmonary embolism (HP:0002204)1.69285374
163Congenital sensorineural hearing impairment (HP:0008527)1.68831757
164Abnormality of the middle phalanges of the toes (HP:0010183)1.68720856
165Palmoplantar hyperkeratosis (HP:0000972)1.68642452
166Abnormality of the phalanges of the 2nd finger (HP:0009541)1.68224513
167Abnormality of glutamine family amino acid metabolism (HP:0010902)1.67973708
168Neonatal respiratory distress (HP:0002643)1.67842814
169Erythema (HP:0010783)1.67654235
170Tubulointerstitial nephritis (HP:0001970)1.67407734
171Cerebellar dysplasia (HP:0007033)1.67079008
172Retinal atrophy (HP:0001105)1.66869843
173Right ventricular cardiomyopathy (HP:0011663)1.66272140
174Abnormality of complement system (HP:0005339)1.65866304
175Sclerocornea (HP:0000647)1.65797446
176Abnormality of the lumbar spine (HP:0100712)1.65791294
177Congenital, generalized hypertrichosis (HP:0004540)1.64811601
178Male pseudohermaphroditism (HP:0000037)1.64736540
179Cutaneous syndactyly (HP:0012725)1.63913395
180Sensorimotor neuropathy (HP:0007141)1.62496548
181Aganglionic megacolon (HP:0002251)1.60563965
182Congenital hepatic fibrosis (HP:0002612)1.60237035
183Pheochromocytoma (HP:0002666)1.60044910
184Blue irides (HP:0000635)1.59679558
185Increased serum pyruvate (HP:0003542)1.57791505
186Fibular hypoplasia (HP:0003038)1.57474301
187Large for gestational age (HP:0001520)1.57452012
188Abnormality of the renal cortex (HP:0011035)1.57383198
189Alacrima (HP:0000522)1.57357619
190Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.56031455
191Abnormality of the proximal phalanges of the hand (HP:0009834)1.55964242
192Astigmatism (HP:0000483)1.55836104
193Decreased testicular size (HP:0008734)1.55723362
194Preaxial foot polydactyly (HP:0001841)1.55246722

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK3.85283794
2EPHB12.85667459
3EPHA42.80351404
4MST42.76654876
5PBK2.54885257
6IRAK32.28010915
7TGFBR22.26651465
8MAP4K22.17144685
9STK392.05552740
10ERN11.98150090
11WEE11.96990983
12ERBB31.96156608
13MARK11.94990548
14WNK31.94904829
15MST1R1.94150201
16PLK21.89630936
17MAPKAPK51.89620459
18MAP3K141.87809928
19BLK1.85959446
20MKNK21.84157137
21PNCK1.84124416
22TAOK31.83808751
23TRIM281.82877191
24TBK11.82331695
25NTRK31.80742551
26MAP4K11.79591743
27MAPK131.78144479
28TYK21.75210673
29TIE11.74645071
30SIK11.64068915
31MKNK11.58730937
32MUSK1.56502112
33IRAK41.55232747
34STK38L1.52394052
35LMTK21.51225654
36TRPM71.50102285
37PDK21.49943740
38TRIB31.49842731
39KDR1.48751720
40CSNK1G21.47706435
41IKBKE1.46713821
42CSNK1G11.45620619
43TXK1.44609419
44STK101.44574919
45IKBKB1.43871713
46CSNK1G31.40638382
47FER1.39861802
48NTRK21.38118281
49KIT1.36963436
50TEC1.34601566
51CSNK1A1L1.33994260
52NEK91.31380575
53TNIK1.30297492
54LRRK21.30046351
55NEK11.28494593
56EIF2AK31.27118749
57JAK31.26955024
58PAK61.25917929
59PINK11.24952594
60PAK31.23072757
61INSRR1.22093983
62JAK11.20869135
63CDK191.19911923
64PRKD31.17346871
65NLK1.16671517
66NUAK11.14997573
67IRAK11.11647888
68PKN11.11340620
69EIF2AK11.10062609
70NTRK11.09063477
71ACVR1B1.07508768
72BRSK21.07424858
73ZAP701.07398413
74MET1.06842527
75SRPK11.05811019
76PIK3CG1.03163571
77DMPK1.02418593
78GRK11.02377841
79NME21.01636080
80PIM21.01275902
81MAP2K20.99356667
82BTK0.99240642
83ITK0.97787176
84PRKCQ0.95152003
85PLK30.93976094
86MAP3K40.93759966
87ROCK10.93595910
88MAP3K130.89814592
89ROCK20.88898297
90OXSR10.88364360
91CSK0.87256802
92KSR10.85396678
93MAP2K30.83723254
94WNK40.83316822
95PRKCG0.82139095
96BCKDK0.78059672
97CAMK1D0.77456356
98CSF1R0.76226021
99MAPK150.75221542
100ABL20.74694693
101JAK20.74486142
102MAPK120.74135134
103DYRK20.73707038
104PIK3CA0.73143977
105PRKG20.73029043
106FGFR10.72990023
107TGFBR10.72173522
108ERBB20.72000465
109PTK60.71986861
110LYN0.71122344
111RIPK40.70544169
112ERBB40.67781995
113CAMK2D0.67586158
114FGFR20.66011065
115PRKAA20.65366399
116PHKG20.64424840
117PHKG10.64424840
118EPHA30.64241456
119LCK0.64021197
120BRSK10.63759585
121EPHB20.63744268
122FGFR40.62899608
123PRKD10.62764308
124MYLK0.62434849
125GRK70.61924693
126CCNB10.59541594
127BMPR1B0.59332304
128RAF10.58441169
129CAMK2G0.58329264
130MAP2K60.57672470
131ADRBK20.55521058
132DYRK30.54565330
133MAP2K70.54240925
134NEK60.53962583
135CAMK2A0.53805231
136MAPKAPK20.52568043
137RPS6KA40.52498170
138CLK10.52387174
139BRD40.52054823
140HCK0.51420216
141AKT30.50408229
142MAP3K110.49702914
143SYK0.48945748
144IGF1R0.48413122
145ABL10.48273278
146CAMK2B0.47921364
147MAPK70.47116644
148MINK10.44019318
149CDK30.43599717
150CSNK1A10.43158382
151MAPK40.42659366
152BCR0.42477810
153STK30.42396868
154FRK0.42376238
155PDPK10.40772436
156PRKCE0.40509451
157STK40.40487045
158BMX0.40148989
159TTN0.40031734
160FYN0.39614894
161DYRK1A0.38956575
162PLK10.38464876
163EIF2AK20.37571969
164YES10.37504671
165CSNK1D0.37181218
166PRKACB0.36227176
167TSSK60.35560422
168UHMK10.34591001
169PTK2B0.34585965
170STK160.34434945
171PRKACA0.33188540

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009104.51726167
2Fatty acid elongation_Homo sapiens_hsa000622.55033143
3Steroid biosynthesis_Homo sapiens_hsa001002.24991048
4Sulfur metabolism_Homo sapiens_hsa009202.16060875
5Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.12300802
6Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.06286804
7Caffeine metabolism_Homo sapiens_hsa002322.00754666
8Histidine metabolism_Homo sapiens_hsa003401.96234945
9Staphylococcus aureus infection_Homo sapiens_hsa051501.95189691
10Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.85628822
11Chemical carcinogenesis_Homo sapiens_hsa052041.82189461
12Fatty acid degradation_Homo sapiens_hsa000711.79299660
13Pentose and glucuronate interconversions_Homo sapiens_hsa000401.78260528
14Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.73688660
15Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.69099077
16Fatty acid metabolism_Homo sapiens_hsa012121.61111046
17Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.58065151
18Vitamin B6 metabolism_Homo sapiens_hsa007501.56973596
19PPAR signaling pathway_Homo sapiens_hsa033201.53324328
20Fatty acid biosynthesis_Homo sapiens_hsa000611.48616573
21Primary bile acid biosynthesis_Homo sapiens_hsa001201.48298579
22Lysosome_Homo sapiens_hsa041421.48203160
23Sphingolipid metabolism_Homo sapiens_hsa006001.47338980
24Peroxisome_Homo sapiens_hsa041461.47007330
25Other glycan degradation_Homo sapiens_hsa005111.45994691
26Complement and coagulation cascades_Homo sapiens_hsa046101.44065610
27Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.42047810
28Malaria_Homo sapiens_hsa051441.39412915
29Retinol metabolism_Homo sapiens_hsa008301.33743189
30Mineral absorption_Homo sapiens_hsa049781.33415836
31Steroid hormone biosynthesis_Homo sapiens_hsa001401.33340649
32Ether lipid metabolism_Homo sapiens_hsa005651.33333090
33ABC transporters_Homo sapiens_hsa020101.29422681
34beta-Alanine metabolism_Homo sapiens_hsa004101.27073366
35Pyruvate metabolism_Homo sapiens_hsa006201.25403242
36Folate biosynthesis_Homo sapiens_hsa007901.21898856
37Leishmaniasis_Homo sapiens_hsa051401.20705066
38Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.17338621
39Vitamin digestion and absorption_Homo sapiens_hsa049771.15702445
40Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.14656240
41Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.14142255
42Pertussis_Homo sapiens_hsa051331.12362089
43Propanoate metabolism_Homo sapiens_hsa006401.10912209
44Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.09129957
45Glycosaminoglycan degradation_Homo sapiens_hsa005311.08626883
46Glutathione metabolism_Homo sapiens_hsa004801.08258178
47Toll-like receptor signaling pathway_Homo sapiens_hsa046201.07239835
48Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.04889810
49Lysine degradation_Homo sapiens_hsa003101.03321373
50Intestinal immune network for IgA production_Homo sapiens_hsa046721.02181766
51alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.01856059
52Hematopoietic cell lineage_Homo sapiens_hsa046401.00220809
53Cysteine and methionine metabolism_Homo sapiens_hsa002700.99767004
54Leukocyte transendothelial migration_Homo sapiens_hsa046700.97543071
55Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.96170441
56Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.95394725
57Arachidonic acid metabolism_Homo sapiens_hsa005900.95180467
58Starch and sucrose metabolism_Homo sapiens_hsa005000.94420801
59Osteoclast differentiation_Homo sapiens_hsa043800.94303899
60Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.90200149
61NF-kappa B signaling pathway_Homo sapiens_hsa040640.89749187
62Arginine biosynthesis_Homo sapiens_hsa002200.87552397
63Nicotine addiction_Homo sapiens_hsa050330.85891807
64Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.85792625
65Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.83999926
66Fanconi anemia pathway_Homo sapiens_hsa034600.82828724
67Basal cell carcinoma_Homo sapiens_hsa052170.82244512
68Tryptophan metabolism_Homo sapiens_hsa003800.82050394
69Sulfur relay system_Homo sapiens_hsa041220.81668295
70Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.81096838
71Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.80987872
72Fat digestion and absorption_Homo sapiens_hsa049750.80197934
73Linoleic acid metabolism_Homo sapiens_hsa005910.79747295
742-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.77663451
75Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.77464032
76RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.77192117
77Glutamatergic synapse_Homo sapiens_hsa047240.76605204
78Carbon metabolism_Homo sapiens_hsa012000.74569056
79Tyrosine metabolism_Homo sapiens_hsa003500.71874325
80Bile secretion_Homo sapiens_hsa049760.71370834
81NOD-like receptor signaling pathway_Homo sapiens_hsa046210.70798859
82Arginine and proline metabolism_Homo sapiens_hsa003300.70704918
83Rheumatoid arthritis_Homo sapiens_hsa053230.68326233
84Thyroid hormone synthesis_Homo sapiens_hsa049180.67900306
85Hippo signaling pathway_Homo sapiens_hsa043900.67773735
86Primary immunodeficiency_Homo sapiens_hsa053400.67644422
87Hedgehog signaling pathway_Homo sapiens_hsa043400.67079275
88Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.66534034
89Tuberculosis_Homo sapiens_hsa051520.66149056
90Axon guidance_Homo sapiens_hsa043600.64829475
91Hepatitis C_Homo sapiens_hsa051600.63060232
92Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.62845690
93TGF-beta signaling pathway_Homo sapiens_hsa043500.61817789
94Maturity onset diabetes of the young_Homo sapiens_hsa049500.61517301
95Toxoplasmosis_Homo sapiens_hsa051450.60706879
96Protein export_Homo sapiens_hsa030600.60114842
97Cocaine addiction_Homo sapiens_hsa050300.59847210
98Circadian rhythm_Homo sapiens_hsa047100.59339540
99Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.59034557
100Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.58651777
101Non-homologous end-joining_Homo sapiens_hsa034500.58496887
102Butanoate metabolism_Homo sapiens_hsa006500.58169944
103Circadian entrainment_Homo sapiens_hsa047130.57742524
104Jak-STAT signaling pathway_Homo sapiens_hsa046300.56898867
105Renin-angiotensin system_Homo sapiens_hsa046140.56250034
106Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.55690221
107Measles_Homo sapiens_hsa051620.55268195
108Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.55015502
109B cell receptor signaling pathway_Homo sapiens_hsa046620.54976458
110Biosynthesis of amino acids_Homo sapiens_hsa012300.54916320
111* Metabolic pathways_Homo sapiens_hsa011000.54817259
112Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.54715282
113Basal transcription factors_Homo sapiens_hsa030220.54618747
114Adipocytokine signaling pathway_Homo sapiens_hsa049200.53803829
115Phenylalanine metabolism_Homo sapiens_hsa003600.53403235
116Phototransduction_Homo sapiens_hsa047440.53196561
117SNARE interactions in vesicular transport_Homo sapiens_hsa041300.51345183
118ECM-receptor interaction_Homo sapiens_hsa045120.51186343
119GABAergic synapse_Homo sapiens_hsa047270.50055947
120Amphetamine addiction_Homo sapiens_hsa050310.49883107
121Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.49781173
122Graft-versus-host disease_Homo sapiens_hsa053320.49642260
123TNF signaling pathway_Homo sapiens_hsa046680.48760735
124Glycerolipid metabolism_Homo sapiens_hsa005610.48546467
125Drug metabolism - other enzymes_Homo sapiens_hsa009830.48366452
126Salmonella infection_Homo sapiens_hsa051320.48068295
127Dopaminergic synapse_Homo sapiens_hsa047280.48061008
128Proteasome_Homo sapiens_hsa030500.47471117
129Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.47320184
130Phagosome_Homo sapiens_hsa041450.47069915
131African trypanosomiasis_Homo sapiens_hsa051430.46558147
132Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.46253784
133Insulin secretion_Homo sapiens_hsa049110.45941509
134Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45927830
135Asthma_Homo sapiens_hsa053100.43731304
136Sphingolipid signaling pathway_Homo sapiens_hsa040710.43725879
137Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.42305377
138Autoimmune thyroid disease_Homo sapiens_hsa053200.41329168
139Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.40794021
140Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.38777307
141Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.35674622
142Oocyte meiosis_Homo sapiens_hsa041140.33240191
143Protein digestion and absorption_Homo sapiens_hsa049740.33117319
144Tight junction_Homo sapiens_hsa045300.32135096
145Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.31892741
146Adherens junction_Homo sapiens_hsa045200.31215603

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