TLR3

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: The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It may thus play a role in host defense against viruses. Use of alternative polyadenylation sites to generate different length transcripts has been noted for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* microglial cell activation (GO:0001774)4.86430693
2glucuronate metabolic process (GO:0019585)4.65542247
3uronic acid metabolic process (GO:0006063)4.65542247
4cellular glucuronidation (GO:0052695)4.64481156
5drug catabolic process (GO:0042737)4.53585798
6* modulation by symbiont of host defense response (GO:0052031)4.48707682
7* modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.48707682
8* modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.48707682
9* positive regulation by organism of defense response of other organism involved in symbiotic interact4.48707682
10* modulation by symbiont of host immune response (GO:0052553)4.48707682
11* positive regulation by symbiont of host defense response (GO:0052509)4.48707682
12exogenous drug catabolic process (GO:0042738)4.46368708
13epoxygenase P450 pathway (GO:0019373)4.29206435
14angiotensin maturation (GO:0002003)4.09057036
15flavonoid metabolic process (GO:0009812)4.04602417
16regulation of guanylate cyclase activity (GO:0031282)4.02673702
17intestinal absorption (GO:0050892)3.95496635
18water-soluble vitamin biosynthetic process (GO:0042364)3.92991025
19* positive regulation of interferon-alpha production (GO:0032727)3.84950166
20drug transmembrane transport (GO:0006855)3.84887669
21regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)3.80833973
22regulation of triglyceride catabolic process (GO:0010896)3.70173933
23drug metabolic process (GO:0017144)3.66425110
24positive regulation of guanylate cyclase activity (GO:0031284)3.61924438
25* regulation of interferon-alpha production (GO:0032647)3.59950888
26positive regulation of monocyte chemotaxis (GO:0090026)3.59658664
27positive regulation of cellular amide metabolic process (GO:0034250)3.57840380
28* macrophage activation involved in immune response (GO:0002281)3.53898520
29L-amino acid import (GO:0043092)3.49970925
30bile acid and bile salt transport (GO:0015721)3.49403599
31* regulation of interferon-beta biosynthetic process (GO:0045357)3.48840831
32behavioral response to nicotine (GO:0035095)3.48501455
33amino acid import (GO:0043090)3.45727207
34digestion (GO:0007586)3.41164661
35regulation of phospholipase A2 activity (GO:0032429)3.40292941
36vitamin biosynthetic process (GO:0009110)3.39829673
37urate metabolic process (GO:0046415)3.34144585
38antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.32397155
39positive regulation of digestive system process (GO:0060456)3.30263676
40sulfate transmembrane transport (GO:1902358)3.30139789
41T-helper 1 type immune response (GO:0042088)3.30073015
42* macrophage activation (GO:0042116)3.28719147
43fucose catabolic process (GO:0019317)3.28664339
44L-fucose metabolic process (GO:0042354)3.28664339
45L-fucose catabolic process (GO:0042355)3.28664339
46arginine metabolic process (GO:0006525)3.27382095
47regulation of B cell receptor signaling pathway (GO:0050855)3.26298826
48sulfation (GO:0051923)3.26189985
49* response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.21664618
50* response to host immune response (GO:0052572)3.21664618
51antigen processing and presentation of endogenous antigen (GO:0019883)3.19032301
52negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)3.18421093
53regulation of systemic arterial blood pressure by hormone (GO:0001990)3.15543242
54regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)3.15543242
55endocrine process (GO:0050886)3.15543242
56indolalkylamine catabolic process (GO:0046218)3.14307173
57tryptophan catabolic process (GO:0006569)3.14307173
58indole-containing compound catabolic process (GO:0042436)3.14307173
59pinocytosis (GO:0006907)3.13808545
60transepithelial transport (GO:0070633)3.12972207
61antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.12365515
62antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.12365515
63regulation of monocyte chemotaxis (GO:0090025)3.11401197
64bile acid metabolic process (GO:0008206)3.10711104
65lipopolysaccharide-mediated signaling pathway (GO:0031663)3.03988371
66* response to host (GO:0075136)3.02053006
67* response to host defenses (GO:0052200)3.02053006
68* response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.02053006
69response to peptidoglycan (GO:0032494)2.99799072
70protein polyglutamylation (GO:0018095)2.99574172
71response to type I interferon (GO:0034340)2.99569791
72cellular response to type I interferon (GO:0071357)2.99496864
73type I interferon signaling pathway (GO:0060337)2.99496864
74oligosaccharide catabolic process (GO:0009313)2.99467035
75glycerol metabolic process (GO:0006071)2.99460096
76L-ascorbic acid metabolic process (GO:0019852)2.96098476
77cobalamin metabolic process (GO:0009235)2.93898689
78phenol-containing compound catabolic process (GO:0019336)2.93404013
79purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.92970552
803-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.92970552
81drug transport (GO:0015893)2.91126283
82indolalkylamine metabolic process (GO:0006586)2.91023112
83cellular response to interferon-alpha (GO:0035457)2.88035674
84establishment of protein localization to Golgi (GO:0072600)2.87766506
85sperm motility (GO:0030317)2.87004948
86fat-soluble vitamin biosynthetic process (GO:0042362)2.86668320
87estrogen biosynthetic process (GO:0006703)2.85168286
88response to interferon-alpha (GO:0035455)2.84358567
89ethanol oxidation (GO:0006069)2.84124514
90intracellular pH reduction (GO:0051452)2.82215750
91G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.81305840
92low-density lipoprotein particle remodeling (GO:0034374)2.80964861
93protein targeting to Golgi (GO:0000042)2.80242463
94tryptophan metabolic process (GO:0006568)2.80210116
95phagocytosis, engulfment (GO:0006911)2.77666528
96sodium-independent organic anion transport (GO:0043252)2.76382142
97positive regulation of icosanoid secretion (GO:0032305)2.75295329
98epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.74795807
99positive regulation of antigen processing and presentation (GO:0002579)2.74556383
100glycosphingolipid catabolic process (GO:0046479)2.74397821
101positive regulation of fatty acid transport (GO:2000193)2.74229102
102hormone catabolic process (GO:0042447)2.73049876
103phenylpropanoid metabolic process (GO:0009698)2.73016269
104transcytosis (GO:0045056)2.71744465
105axoneme assembly (GO:0035082)2.70244748
106positive regulation of smooth muscle cell migration (GO:0014911)2.69963413
107S-adenosylmethionine metabolic process (GO:0046500)2.69058495
108positive regulation of macrophage cytokine production (GO:0060907)2.67806679
109regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.67249607
110parturition (GO:0007567)2.65869351
111organic cation transport (GO:0015695)2.65815494
112sphingolipid catabolic process (GO:0030149)2.65366066
113sulfur compound transport (GO:0072348)2.64942520
114regulation of bile acid biosynthetic process (GO:0070857)2.63808178
115epithelial cilium movement (GO:0003351)2.63632256
116apoptotic cell clearance (GO:0043277)2.62529609
117oxidative demethylation (GO:0070989)2.61994494
118cilium or flagellum-dependent cell motility (GO:0001539)2.58819251
119alditol metabolic process (GO:0019400)2.57984700
120endothelium development (GO:0003158)2.57562821
121phosphatidylserine acyl-chain remodeling (GO:0036150)2.56163472
122phosphatidylinositol acyl-chain remodeling (GO:0036149)2.56146590
123sulfate transport (GO:0008272)2.55808955
124regulation of dendritic cell antigen processing and presentation (GO:0002604)2.55720409
125alanine transport (GO:0032328)2.55671255
126xenobiotic metabolic process (GO:0006805)2.55266812
127omega-hydroxylase P450 pathway (GO:0097267)2.55245354
128intestinal cholesterol absorption (GO:0030299)2.54395697
129regulation of systemic arterial blood pressure (GO:0003073)2.54102466
130membrane raft organization (GO:0031579)2.53898165
131C4-dicarboxylate transport (GO:0015740)2.53654150
132detection of molecule of bacterial origin (GO:0032490)2.53532905
133lipoprotein transport (GO:0042953)2.51809789
134regulation of cGMP biosynthetic process (GO:0030826)2.51276513
135thyroid hormone metabolic process (GO:0042403)2.51049857
136alkaloid metabolic process (GO:0009820)2.50609106
137estrogen metabolic process (GO:0008210)2.50495128
138chondroitin sulfate catabolic process (GO:0030207)2.49192808
139* positive regulation of toll-like receptor signaling pathway (GO:0034123)2.48937136
140immunoglobulin mediated immune response (GO:0016064)2.48174074
141retrograde transport, vesicle recycling within Golgi (GO:0000301)2.47480000
142excretion (GO:0007588)2.47208832
143regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.47101761
144primary alcohol metabolic process (GO:0034308)2.46192397
145* I-kappaB phosphorylation (GO:0007252)2.45719810
146negative regulation of leukocyte chemotaxis (GO:0002689)2.45659060
147fat-soluble vitamin metabolic process (GO:0006775)2.45122668
148cell adhesion mediated by integrin (GO:0033627)2.44546233
149kynurenine metabolic process (GO:0070189)2.43926232
150ceramide catabolic process (GO:0046514)2.43707865
151macroautophagy (GO:0016236)2.43385131
152regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033392.43003980
153glycolipid catabolic process (GO:0019377)2.42870614
154membrane lipid catabolic process (GO:0046466)2.41455983
155response to nitrosative stress (GO:0051409)2.41441093
156interferon-gamma-mediated signaling pathway (GO:0060333)2.40774309
157amino-acid betaine metabolic process (GO:0006577)2.39416744
158platelet dense granule organization (GO:0060155)2.39147752
159positive regulation of fatty acid oxidation (GO:0046321)2.38954462
160regulation of digestive system process (GO:0044058)2.37474852
161* cellular response to exogenous dsRNA (GO:0071360)2.37424373
162arginine catabolic process (GO:0006527)2.37331033
163alpha-linolenic acid metabolic process (GO:0036109)2.36881960
164bile acid biosynthetic process (GO:0006699)2.36286072
165positive regulation of response to biotic stimulus (GO:0002833)2.35148475
166positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.35023227
167pH reduction (GO:0045851)2.34475943
168regulation of toll-like receptor 4 signaling pathway (GO:0034143)2.34185965
169G-protein coupled purinergic receptor signaling pathway (GO:0035588)2.34129138
170negative regulation of tissue remodeling (GO:0034104)2.32535412
171* positive regulation of interferon-beta production (GO:0032728)2.31910180
172production of molecular mediator involved in inflammatory response (GO:0002532)2.31546809
173positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.28908395
174negative regulation of mast cell activation (GO:0033004)2.27670456
175adhesion of symbiont to host cell (GO:0044650)2.27599601
176virion attachment to host cell (GO:0019062)2.27599601
177cytokine secretion (GO:0050663)2.26713151
178regulation of antigen processing and presentation (GO:0002577)2.24786515
179neutrophil activation involved in immune response (GO:0002283)2.23759437
180respiratory burst (GO:0045730)2.23634768
181positive regulation of phagocytosis (GO:0050766)2.22123123
182adhesion of symbiont to host (GO:0044406)2.21587547
183reverse cholesterol transport (GO:0043691)2.21287332
184ruffle organization (GO:0031529)2.21029062
185positive regulation of interleukin-17 production (GO:0032740)2.16833737
186lipoprotein metabolic process (GO:0042157)2.16079463
187negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.13344464
188positive regulation of natural killer cell differentiation (GO:0032825)2.11741918
189plasma lipoprotein particle remodeling (GO:0034369)2.11407986
190protein-lipid complex remodeling (GO:0034368)2.11407986
191macromolecular complex remodeling (GO:0034367)2.11407986
192positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610812.10770046
193response to cholesterol (GO:0070723)2.08902954
194linoleic acid metabolic process (GO:0043651)2.08122272
195triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.08107844
196response to muramyl dipeptide (GO:0032495)2.07203787

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_21731497_ChIP-ChIP_J774_Mouse4.17109635
2IRF8_22096565_ChIP-ChIP_GC-B_Human4.00305422
3* IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.13930724
4IRF8_27001747_Chip-Seq_BMDM_Mouse3.01475592
5FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.89154415
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.77516979
7FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.77094164
8TP63_17297297_ChIP-ChIP_HaCaT_Human2.50000215
9VDR_22108803_ChIP-Seq_LS180_Human2.35414867
10SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.33550781
11TRIM28_21343339_ChIP-Seq_HEK293_Human2.32067598
12Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.28541825
13GATA1_22025678_ChIP-Seq_K562_Human2.25920086
14CDX2_19796622_ChIP-Seq_MESCs_Mouse2.16663476
15SMAD_19615063_ChIP-ChIP_OVARY_Human2.12710424
16TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.03647325
17NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.02809186
18IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.02171975
19ZNF274_21170338_ChIP-Seq_K562_Hela2.00487791
20ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.94346647
21* STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.93869089
22BP1_19119308_ChIP-ChIP_Hs578T_Human1.93749938
23ZFP57_27257070_Chip-Seq_ESCs_Mouse1.86218317
24LXR_22158963_ChIP-Seq_LIVER_Mouse1.81275543
25POU3F2_20337985_ChIP-ChIP_501MEL_Human1.80296089
26RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.78937442
27GBX2_23144817_ChIP-Seq_PC3_Human1.74803447
28GATA2_21666600_ChIP-Seq_HMVEC_Human1.71889671
29FLI1_27457419_Chip-Seq_LIVER_Mouse1.70988424
30STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.69860347
31NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.66080375
32* P300_19829295_ChIP-Seq_ESCs_Human1.63539568
33STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.62388032
34NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.61420132
35TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.60194848
36* RXR_22158963_ChIP-Seq_LIVER_Mouse1.59464725
37CBP_20019798_ChIP-Seq_JUKART_Human1.57450872
38IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.57450872
39THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.56818771
40VDR_24787735_ChIP-Seq_THP-1_Human1.56588051
41CDX2_22108803_ChIP-Seq_LS180_Human1.56088869
42ER_23166858_ChIP-Seq_MCF-7_Human1.53679597
43FUS_26573619_Chip-Seq_HEK293_Human1.53195983
44PCGF2_27294783_Chip-Seq_ESCs_Mouse1.51638209
45CTBP1_25329375_ChIP-Seq_LNCAP_Human1.50830922
46ESR2_21235772_ChIP-Seq_MCF-7_Human1.50744043
47PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.50569168
48STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.48075540
49ZNF217_24962896_ChIP-Seq_MCF-7_Human1.47216881
50ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.43611501
51ESR1_21235772_ChIP-Seq_MCF-7_Human1.43360464
52GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.42019798
53PCGF2_27294783_Chip-Seq_NPCs_Mouse1.41793298
54NR3C1_21868756_ChIP-Seq_MCF10A_Human1.41542077
55RXR_22108803_ChIP-Seq_LS180_Human1.40295916
56IGF1R_20145208_ChIP-Seq_DFB_Human1.40099504
57STAT3_23295773_ChIP-Seq_U87_Human1.40032484
58VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.39219661
59* CJUN_26792858_Chip-Seq_BT549_Human1.38026955
60FOXO3_23340844_ChIP-Seq_DLD1_Human1.37535046
61CTBP2_25329375_ChIP-Seq_LNCAP_Human1.37395445
62AR_21572438_ChIP-Seq_LNCaP_Human1.36096736
63SOX2_20726797_ChIP-Seq_SW620_Human1.36058041
64* PPARA_22158963_ChIP-Seq_LIVER_Mouse1.35703405
65RUNX_20019798_ChIP-Seq_JUKART_Human1.34972176
66FOXA1_21572438_ChIP-Seq_LNCaP_Human1.34940346
67TCF4_22108803_ChIP-Seq_LS180_Human1.34218463
68RARG_19884340_ChIP-ChIP_MEFs_Mouse1.33046703
69SOX2_19829295_ChIP-Seq_ESCs_Human1.31436085
70NANOG_19829295_ChIP-Seq_ESCs_Human1.31436085
71NRF2_20460467_ChIP-Seq_MEFs_Mouse1.31336398
72NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.31336398
73UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.30856298
74CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.30450399
75EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.29863486
76SMAD4_21799915_ChIP-Seq_A2780_Human1.29739091
77* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.28122973
78SUZ12_27294783_Chip-Seq_NPCs_Mouse1.28029160
79CDX2_20551321_ChIP-Seq_CACO-2_Human1.27936462
80FOXA1_27270436_Chip-Seq_PROSTATE_Human1.27921198
81FOXA1_25329375_ChIP-Seq_VCAP_Human1.27921198
82NFE2_27457419_Chip-Seq_LIVER_Mouse1.25967547
83IKZF1_21737484_ChIP-ChIP_HCT116_Human1.22440754
84CLOCK_20551151_ChIP-Seq_293T_Human1.22138417
85AR_20517297_ChIP-Seq_VCAP_Human1.21648181
86SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.21228985
87EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.21151661
88TCF4_23295773_ChIP-Seq_U87_Human1.20946842
89FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.19655436
90ESR1_20079471_ChIP-ChIP_T-47D_Human1.19182599
91* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.16774553
92SMAD3_21741376_ChIP-Seq_EPCs_Human1.16483379
93EZH2_27294783_Chip-Seq_NPCs_Mouse1.16197113
94SMAD4_21741376_ChIP-Seq_EPCs_Human1.15896223
95NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.14943309
96PIAS1_25552417_ChIP-Seq_VCAP_Human1.14586551
97MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.14175342
98AUTS2_25519132_ChIP-Seq_293T-REX_Human1.13660154
99KLF5_20875108_ChIP-Seq_MESCs_Mouse1.13474324
100PPAR_26484153_Chip-Seq_NCI-H1993_Human1.12601425
101PRDM14_20953172_ChIP-Seq_ESCs_Human1.11970599
102* PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.11232961
103FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.10693835
104ETV1_20927104_ChIP-Seq_GIST48_Human1.10105412
105ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.10063507
106MYB_21317192_ChIP-Seq_ERMYB_Mouse1.09741518
107MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.08921471
108PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.08602815
109* TP63_23658742_ChIP-Seq_EP156T_Human1.07695799
110PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.07555403
111SPI1_23127762_ChIP-Seq_K562_Human1.06157202
112SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.05921324
113CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.05623727
114P53_22387025_ChIP-Seq_ESCs_Mouse1.05614514
115ETV2_25802403_ChIP-Seq_MESCs_Mouse1.05375395
116HNFA_21074721_ChIP-Seq_CACO-2_Human1.05299687
117NANOG_18555785_Chip-Seq_ESCs_Mouse1.05184125
118RBPJ_21746931_ChIP-Seq_IB4_Human1.04659036
119RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04612408
120TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.03782686
121EGR1_23403033_ChIP-Seq_LIVER_Mouse1.03762566
122CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.03549021
123* TP53_18474530_ChIP-ChIP_U2OS_Human1.03492378
124PHF8_20622853_ChIP-Seq_HELA_Human1.03187324
125EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.03177586
126TCF4_18268006_ChIP-ChIP_LS174T_Human1.02982365
127STAT3_18555785_Chip-Seq_ESCs_Mouse1.02640768
128OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02624170
129NCOR_22424771_ChIP-Seq_293T_Human1.02259215
130* FOXH1_21741376_ChIP-Seq_EPCs_Human1.01684335
131FOXM1_26456572_ChIP-Seq_MCF-7_Human1.01591100
132TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.01297416
133SOX9_24532713_ChIP-Seq_HFSC_Mouse1.01286273
134CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.01228684
135PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.01049975
136BMI1_23680149_ChIP-Seq_NPCS_Mouse1.00897124
137CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.00651890
138PCGF4_22325352_ChIP-Seq_293T-Rex_Human1.00420823
139CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.99252561
140CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.98969570
141FOXA2_19822575_ChIP-Seq_HepG2_Human0.97725176
142NFYA_21822215_ChIP-Seq_K562_Human0.97614966
143BRD4_27068464_Chip-Seq_AML-cells_Mouse0.97503154
144PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.97271953
145GATA3_21878914_ChIP-Seq_MCF-7_Human0.97235671
146SALL4_18804426_ChIP-ChIP_XEN_Mouse0.97227173
147PU_27001747_Chip-Seq_BMDM_Mouse0.97050482
148CRX_20693478_ChIP-Seq_RETINA_Mouse0.96968951
149TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96739141
150NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.95117094
151* TP53_16413492_ChIP-PET_HCT116_Human0.91922587
152* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.91838770
153SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.91199506
154* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.90053603
155BCAT_22108803_ChIP-Seq_LS180_Human0.89088867
156EGR1_19374776_ChIP-ChIP_THP-1_Human0.89026901
157GATA2_19941826_ChIP-Seq_K562_Human0.87357295
158EP300_21415370_ChIP-Seq_HL-1_Mouse0.86593954
159SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.86448486
160STAT4_19710469_ChIP-ChIP_TH1__Mouse0.85999413
161AHR_22903824_ChIP-Seq_MCF-7_Human0.85827201
162TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.85688454
163GATA4_25053715_ChIP-Seq_YYC3_Human0.83180786
164SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.82647789
165SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.82647789
166SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.82253873
167JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.81118801
168AR_25329375_ChIP-Seq_VCAP_Human0.80996471
169EGR1_19032775_ChIP-ChIP_M12_Human0.79409577
170SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.78974676
171SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.76473627
172* SOX2_27498859_Chip-Seq_STOMACH_Mouse0.75651635
173ARNT_22903824_ChIP-Seq_MCF-7_Human0.74516490
174JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.74465470

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation3.76808329
2MP0005365_abnormal_bile_salt3.52317052
3MP0002876_abnormal_thyroid_physiology3.48160919
4MP0003195_calcinosis3.25819705
5MP0006082_CNS_inflammation3.12718235
6MP0005058_abnormal_lysosome_morphology3.03144735
7MP0003690_abnormal_glial_cell3.01718495
8MP0008875_abnormal_xenobiotic_pharmacok3.01378078
9MP0003300_gastrointestinal_ulcer2.55918011
10MP0004019_abnormal_vitamin_homeostasis2.47036759
11MP0003303_peritoneal_inflammation2.38582199
12MP0003724_increased_susceptibility_to2.37192929
13MP0002138_abnormal_hepatobiliary_system2.34705304
14MP0003191_abnormal_cellular_cholesterol2.34244630
15MP0009384_cardiac_valve_regurgitation2.31892698
16MP0003075_altered_response_to2.29575402
17MP0002254_reproductive_system_inflammat2.26447180
18MP0001853_heart_inflammation2.16029784
19MP0005167_abnormal_blood-brain_barrier2.15646818
20MP0001485_abnormal_pinna_reflex2.15529572
21MP0003172_abnormal_lysosome_physiology2.12193274
22MP0009785_altered_susceptibility_to2.08477018
23* MP0002419_abnormal_innate_immunity2.04662505
24MP0004043_abnormal_pH_regulation2.00661032
25MP0009840_abnormal_foam_cell2.00007972
26MP0009764_decreased_sensitivity_to1.91616464
27MP0003436_decreased_susceptibility_to1.90995127
28MP0002148_abnormal_hypersensitivity_rea1.87042082
29MP0003646_muscle_fatigue1.86092968
30MP0005360_urolithiasis1.86061403
31MP0003878_abnormal_ear_physiology1.84408498
32MP0005377_hearing/vestibular/ear_phenot1.84408498
33MP0002102_abnormal_ear_morphology1.83651944
34MP0003879_abnormal_hair_cell1.76138750
35MP0003279_aneurysm1.74503918
36MP0001790_abnormal_immune_system1.74302207
37MP0005387_immune_system_phenotype1.74302207
38MP0008872_abnormal_physiological_respon1.69748896
39MP0009780_abnormal_chondrocyte_physiolo1.68399080
40MP0009643_abnormal_urine_homeostasis1.67011378
41MP0003705_abnormal_hypodermis_morpholog1.66730770
42MP0004858_abnormal_nervous_system1.64153201
43MP0000343_altered_response_to1.63105445
44MP0005464_abnormal_platelet_physiology1.60905558
45MP0001533_abnormal_skeleton_physiology1.59770670
46MP0002090_abnormal_vision1.59151150
47MP0001958_emphysema1.58297671
48MP0001501_abnormal_sleep_pattern1.57253765
49MP0003868_abnormal_feces_composition1.55771946
50* MP0005025_abnormal_response_to1.55712026
51MP0001765_abnormal_ion_homeostasis1.53087281
52MP0005000_abnormal_immune_tolerance1.51537121
53MP0000230_abnormal_systemic_arterial1.50961422
54MP0003183_abnormal_peptide_metabolism1.50937230
55MP0005671_abnormal_response_to1.50903221
56MP0003252_abnormal_bile_duct1.49127631
57MP0005166_decreased_susceptibility_to1.47639590
58MP0005636_abnormal_mineral_homeostasis1.47220439
59* MP0002452_abnormal_antigen_presenting1.46747955
60MP0005410_abnormal_fertilization1.46713231
61MP0003045_fibrosis1.43420147
62MP0008775_abnormal_heart_ventricle1.42419059
63MP0001879_abnormal_lymphatic_vessel1.41660954
64MP0003011_delayed_dark_adaptation1.41358448
65MP0004885_abnormal_endolymph1.40567964
66MP0005164_abnormal_response_to1.40454525
67MP0001881_abnormal_mammary_gland1.39651692
68MP0000427_abnormal_hair_cycle1.37952212
69MP0005551_abnormal_eye_electrophysiolog1.36893221
70MP0010386_abnormal_urinary_bladder1.36066548
71MP0010368_abnormal_lymphatic_system1.34172823
72MP0000685_abnormal_immune_system1.33880780
73MP0005165_increased_susceptibility_to1.32362327
74MP0003566_abnormal_cell_adhesion1.31572322
75MP0001986_abnormal_taste_sensitivity1.30156178
76MP0002998_abnormal_bone_remodeling1.28134826
77MP0000538_abnormal_urinary_bladder1.26940101
78MP0003718_maternal_effect1.24743125
79MP0008438_abnormal_cutaneous_collagen1.23781306
80MP0001664_abnormal_digestion1.23612716
81MP0004510_myositis1.21895642
82MP0004130_abnormal_muscle_cell1.20771800
83MP0008469_abnormal_protein_level1.20077117
84MP0000249_abnormal_blood_vessel1.18341920
85MP0006054_spinal_hemorrhage1.14356562
86MP0005085_abnormal_gallbladder_physiolo1.14323540
87MP0000767_abnormal_smooth_muscle1.14183057
88MP0002837_dystrophic_cardiac_calcinosis1.14058018
89MP0001800_abnormal_humoral_immune1.13060566
90MP0001873_stomach_inflammation1.11365408
91MP0001756_abnormal_urination1.10937549
92MP0000383_abnormal_hair_follicle1.10389921
93MP0002139_abnormal_hepatobiliary_system1.10201153
94MP0000604_amyloidosis1.09881776
95MP0005503_abnormal_tendon_morphology1.09806142
96MP0005670_abnormal_white_adipose1.09763670
97MP0010678_abnormal_skin_adnexa1.09699907
98* MP0002723_abnormal_immune_serum1.09526581
99* MP0001819_abnormal_immune_cell1.08731839
100MP0010234_abnormal_vibrissa_follicle1.05804629
101MP0004947_skin_inflammation1.05573418
102* MP0001845_abnormal_inflammatory_respons1.05531430
103MP0010329_abnormal_lipoprotein_level1.05044367
104MP0003828_pulmonary_edema1.04361138
105MP0003283_abnormal_digestive_organ1.02988494
106MP0003638_abnormal_response/metabolism_1.00621164
107MP0004883_abnormal_blood_vessel0.99491775
108MP0001851_eye_inflammation0.99248092
109* MP0002420_abnormal_adaptive_immunity0.99219863
110MP0004272_abnormal_basement_membrane0.99087741
111MP0003091_abnormal_cell_migration0.95363705
112MP0010155_abnormal_intestine_physiology0.93897131
113MP0005448_abnormal_energy_balance0.93797361
114MP0003633_abnormal_nervous_system0.93154134
115MP0005083_abnormal_biliary_tract0.92203391
116MP0000566_synostosis0.91863263
117MP0004215_abnormal_myocardial_fiber0.90914791
118MP0001915_intracranial_hemorrhage0.90606067
119MP0002166_altered_tumor_susceptibility0.90181255
120MP0001440_abnormal_grooming_behavior0.87975211
121MP0005332_abnormal_amino_acid0.86948882
122MP0004782_abnormal_surfactant_physiolog0.86830245
123MP0002006_tumorigenesis0.85826838
124MP0005171_absent_coat_pigmentation0.85770645
125MP0001764_abnormal_homeostasis0.85736620
126MP0003448_altered_tumor_morphology0.85338165
127MP0004147_increased_porphyrin_level0.85184683
128MP0008877_abnormal_DNA_methylation0.84844774
129MP0003866_abnormal_defecation0.83736845
130MP0005390_skeleton_phenotype0.83660087
131MP0009763_increased_sensitivity_to0.82833601
132MP0005647_abnormal_sex_gland0.82573234
133MP0000372_irregular_coat_pigmentation0.82008916
134MP0003806_abnormal_nucleotide_metabolis0.81778441
135MP0005379_endocrine/exocrine_gland_phen0.80546147
136MP0009115_abnormal_fat_cell0.80544307
137MP0002160_abnormal_reproductive_system0.80128264
138MP0005319_abnormal_enzyme/_coenzyme0.79507905
139MP0001666_abnormal_nutrient_absorption0.79506916
140MP0000465_gastrointestinal_hemorrhage0.78776600
141MP0008004_abnormal_stomach_pH0.78557550
142MP0005389_reproductive_system_phenotype0.77760096
143MP0004484_altered_response_of0.77569360
144MP0009379_abnormal_foot_pigmentation0.76761749
145MP0003453_abnormal_keratinocyte_physiol0.76653923
146MP0001663_abnormal_digestive_system0.75815051
147MP0006138_congestive_heart_failure0.75793245
148MP0002928_abnormal_bile_duct0.75636668
149MP0000609_abnormal_liver_physiology0.74276911
150MP0002136_abnormal_kidney_physiology0.72887392
151MP0005666_abnormal_adipose_tissue0.72865088
152MP0002118_abnormal_lipid_homeostasis0.72698938
153MP0005084_abnormal_gallbladder_morpholo0.72381459
154MP0009697_abnormal_copulation0.71833231
155MP0002163_abnormal_gland_morphology0.71796954
156MP0005584_abnormal_enzyme/coenzyme_acti0.71112352
157MP0005395_other_phenotype0.65998557
158MP0004742_abnormal_vestibular_system0.65023976
159MP0005275_abnormal_skin_tensile0.63109859
160MP0005645_abnormal_hypothalamus_physiol0.61741374
161MP0005646_abnormal_pituitary_gland0.59964412
162MP0005334_abnormal_fat_pad0.59351967
163MP0009642_abnormal_blood_homeostasis0.57886468

Predicted human phenotypes

RankGene SetZ-score
1Increased neuronal autofluorescent lipopigment (HP:0002074)5.97482354
2Increased cerebral lipofuscin (HP:0011813)5.83808160
3Abnormality of glutamine family amino acid metabolism (HP:0010902)5.36727527
4Onycholysis (HP:0001806)4.52224543
5Loss of speech (HP:0002371)4.13902934
6Decreased circulating renin level (HP:0003351)4.06062388
7Abnormality of liposaccharide metabolism (HP:0010968)4.01386398
8Abnormality of glycosphingolipid metabolism (HP:0004343)4.01386398
9Abnormality of glycolipid metabolism (HP:0010969)4.01386398
10Systemic lupus erythematosus (HP:0002725)3.93431932
11Congenital sensorineural hearing impairment (HP:0008527)3.47524584
12Nephritis (HP:0000123)3.45828745
13Tetraparesis (HP:0002273)3.37192709
14Confusion (HP:0001289)3.36153657
15Chronic hepatic failure (HP:0100626)3.36041940
16Metabolic alkalosis (HP:0200114)3.34870904
17Dysostosis multiplex (HP:0000943)3.34578880
18Abnormality of secondary sexual hair (HP:0009888)3.26441535
19Abnormality of the axillary hair (HP:0100134)3.26441535
20Recurrent bacterial skin infections (HP:0005406)3.24792809
21Recurrent abscess formation (HP:0002722)3.24074527
22Abnormality of macular pigmentation (HP:0008002)3.23878343
23Pancreatic cysts (HP:0001737)3.22219539
24Aplasia involving bones of the extremities (HP:0009825)3.17282820
25Aplasia involving bones of the upper limbs (HP:0009823)3.17282820
26Aplasia of the phalanges of the hand (HP:0009802)3.17282820
27Fat malabsorption (HP:0002630)3.14579718
28Hyperactive renin-angiotensin system (HP:0000841)3.13593280
29Abnormality of the vitamin B12 metabolism (HP:0004341)3.12192649
30Abnormality of renin-angiotensin system (HP:0000847)3.10251116
31Mucopolysacchariduria (HP:0008155)3.07203027
32Urinary glycosaminoglycan excretion (HP:0003541)3.07203027
33Hematochezia (HP:0002573)3.06242390
34Abnormality of complement system (HP:0005339)3.05226668
35Abnormality of vitamin B metabolism (HP:0004340)3.01537670
36Abnormality of the renal cortex (HP:0011035)3.01027296
37Myocardial infarction (HP:0001658)3.00674925
38Eczematoid dermatitis (HP:0000976)2.95297279
39Glomerulonephritis (HP:0000099)2.94875495
40Abnormality of polysaccharide metabolism (HP:0011012)2.89862765
41Abnormality of glycosaminoglycan metabolism (HP:0004371)2.89862765
42Abnormality of mucopolysaccharide metabolism (HP:0011020)2.89862765
43Nephronophthisis (HP:0000090)2.87165592
44Decreased central vision (HP:0007663)2.87040711
45Abnormality of urine glucose concentration (HP:0011016)2.83871143
46Glycosuria (HP:0003076)2.83871143
47Vacuolated lymphocytes (HP:0001922)2.83683561
48Attenuation of retinal blood vessels (HP:0007843)2.81844411
49Abnormality of the renal medulla (HP:0100957)2.80400461
50Tubular atrophy (HP:0000092)2.77848710
51Chronic otitis media (HP:0000389)2.76602529
52Decreased electroretinogram (ERG) amplitude (HP:0000654)2.74125170
53Pancreatic fibrosis (HP:0100732)2.73792224
54Abnormality of midbrain morphology (HP:0002418)2.71264035
55Molar tooth sign on MRI (HP:0002419)2.71264035
56Steatorrhea (HP:0002570)2.69998069
57Chorioretinal atrophy (HP:0000533)2.69961477
58Autoimmune thrombocytopenia (HP:0001973)2.69759831
59Abolished electroretinogram (ERG) (HP:0000550)2.69020270
60Complement deficiency (HP:0004431)2.67919039
61Basal ganglia calcification (HP:0002135)2.66927267
62Esophageal varix (HP:0002040)2.65321372
63Alkalosis (HP:0001948)2.64807798
64Pigmentary retinal degeneration (HP:0001146)2.62506262
65Arterial tortuosity (HP:0005116)2.61045050
66True hermaphroditism (HP:0010459)2.57400433
67Hypobetalipoproteinemia (HP:0003563)2.54105856
68Progressive visual loss (HP:0000529)2.52000406
69Axonal loss (HP:0003447)2.50231217
70Recurrent gram-negative bacterial infections (HP:0005420)2.49638522
71Abnormality of vitamin metabolism (HP:0100508)2.49045414
72Interstitial pulmonary disease (HP:0006530)2.46330225
73Abnormality of nail color (HP:0100643)2.45912159
74Polydipsia (HP:0001959)2.43923079
75Abnormal drinking behavior (HP:0030082)2.43923079
76Keratoconus (HP:0000563)2.40694423
77Increased corneal curvature (HP:0100692)2.40694423
78Tubulointerstitial nephritis (HP:0001970)2.40240832
79Hyperglycinuria (HP:0003108)2.40119203
80Hypoproteinemia (HP:0003075)2.38571597
81Hypoalbuminemia (HP:0003073)2.37610783
82Abnormal albumin level (HP:0012116)2.37610783
83Craniofacial hyperostosis (HP:0004493)2.37262224
84Vascular calcification (HP:0004934)2.36659592
85Abnormality of macrophages (HP:0004311)2.36404281
86Hyperaldosteronism (HP:0000859)2.36019860
87Vascular tortuosity (HP:0004948)2.35104039
88Abnormality of glycine metabolism (HP:0010895)2.32830067
89Abnormality of serine family amino acid metabolism (HP:0010894)2.32830067
90Abnormality of renal excretion (HP:0011036)2.32654833
91Adactyly (HP:0009776)2.31288325
92Neurofibrillary tangles (HP:0002185)2.30890472
93Increased purine levels (HP:0004368)2.30155575
94Hyperuricemia (HP:0002149)2.30155575
95Cerebral palsy (HP:0100021)2.29854261
96Focal segmental glomerulosclerosis (HP:0000097)2.29295938
97Abnormality of aspartate family amino acid metabolism (HP:0010899)2.28812005
98Amyloidosis (HP:0011034)2.27482033
99Large for gestational age (HP:0001520)2.25903219
100Thick nail (HP:0001805)2.23113180
101Congenital stationary night blindness (HP:0007642)2.22337509
102Cardiovascular calcification (HP:0011915)2.20800650
103Abnormality of purine metabolism (HP:0004352)2.19656532
104Colitis (HP:0002583)2.18867548
105Abnormality of potassium homeostasis (HP:0011042)2.18030968
106Abnormality of chloride homeostasis (HP:0011422)2.16651426
107Abnormal urine output (HP:0012590)2.15588149
108Conjugated hyperbilirubinemia (HP:0002908)2.14813227
109Hyperkalemia (HP:0002153)2.14745290
110Retinal atrophy (HP:0001105)2.14731371
111Cranial hyperostosis (HP:0004437)2.14039483
112Hypothermia (HP:0002045)2.13948973
113Pendular nystagmus (HP:0012043)2.13442907
114Congenital, generalized hypertrichosis (HP:0004540)2.09600425
115Malnutrition (HP:0004395)2.08539629
116Urticaria (HP:0001025)2.07643764
117Vasculitis (HP:0002633)2.07250641
118Hypokalemia (HP:0002900)2.05735993
119Renal cortical cysts (HP:0000803)2.05562529
120Dynein arm defect of respiratory motile cilia (HP:0012255)2.05255823
121Absent/shortened dynein arms (HP:0200106)2.05255823
122Metabolic acidosis (HP:0001942)2.04759175
123Blepharitis (HP:0000498)2.03528890
124Hypoalphalipoproteinemia (HP:0003233)2.02839329
125Abnormal rod and cone electroretinograms (HP:0008323)2.01538153
126Macular degeneration (HP:0000608)2.01118056
127Cystic liver disease (HP:0006706)2.00946811
128Premature loss of primary teeth (HP:0006323)1.98840633
129Tubulointerstitial abnormality (HP:0001969)1.98228147
130J-shaped sella turcica (HP:0002680)1.96725213
131Periodontitis (HP:0000704)1.96605195
132Diplopia (HP:0000651)1.95371378
133Abnormality of binocular vision (HP:0011514)1.95371378
134Elevated erythrocyte sedimentation rate (HP:0003565)1.94652259
135Polyuria (HP:0000103)1.94161719
136Poor head control (HP:0002421)1.92727505
137Xerostomia (HP:0000217)1.91969268
138Bone cyst (HP:0012062)1.91424829
139Congenital hepatic fibrosis (HP:0002612)1.91080591
140Glomerulosclerosis (HP:0000096)1.90915480
141Bile duct proliferation (HP:0001408)1.90738085
142Abnormal biliary tract physiology (HP:0012439)1.90738085
143Xanthomatosis (HP:0000991)1.90672716
144Polycythemia (HP:0001901)1.89951051
145Methylmalonic aciduria (HP:0012120)1.88467217
146Absent rod-and cone-mediated responses on ERG (HP:0007688)1.87267992
147Hydroxyprolinuria (HP:0003080)1.87243064
148Abnormality of proline metabolism (HP:0010907)1.87243064
149Mediastinal lymphadenopathy (HP:0100721)1.87203673
150Osteolytic defects of the hand bones (HP:0009699)1.86771409
151Osteolytic defects of the phalanges of the hand (HP:0009771)1.86771409
152Hemorrhage of the eye (HP:0011885)1.86096723
153Azoospermia (HP:0000027)1.85252806
154Plantar hyperkeratosis (HP:0007556)1.85243714
155Hyperammonemia (HP:0001987)1.85137349
156Stage 5 chronic kidney disease (HP:0003774)1.83724954
157Aortic aneurysm (HP:0004942)1.83569475
158Tubulointerstitial fibrosis (HP:0005576)1.83425352
159Pancreatitis (HP:0001733)1.83205861
160Cerebral aneurysm (HP:0004944)1.82333723
161Arterial thrombosis (HP:0004420)1.81860794
162Mitral stenosis (HP:0001718)1.81437611
163Emphysema (HP:0002097)1.79369798
164Abnormality of monocarboxylic acid metabolism (HP:0010996)1.78956656
165Chronic sinusitis (HP:0011109)1.78939313
166Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.78938193
167Myositis (HP:0100614)1.78730521
168Recurrent skin infections (HP:0001581)1.78508689
169Hyperlipoproteinemia (HP:0010980)1.77672131
170Enlarged kidneys (HP:0000105)1.77294565
171Atrophic scars (HP:0001075)1.76980066
172Disinhibition (HP:0000734)1.75947797
173Orchitis (HP:0100796)1.74934845
174Deformed sella turcica (HP:0002681)1.74514465
175Short hallux (HP:0010109)1.74298633
176Polygenic inheritance (HP:0010982)1.73827152
177Hepatosplenomegaly (HP:0001433)1.73131416
178Chronic diarrhea (HP:0002028)1.72995567
179Palmoplantar hyperkeratosis (HP:0000972)1.71894450
180Clumsiness (HP:0002312)1.71691260
181Potter facies (HP:0002009)1.71680893
182Facial shape deformation (HP:0011334)1.71680893
183Acrocyanosis (HP:0001063)1.71525462
184Alopecia of scalp (HP:0002293)1.69963043
185Abnormality of homocysteine metabolism (HP:0010919)1.68977633
186Homocystinuria (HP:0002156)1.68977633
187Aplasia/Hypoplasia of the hallux (HP:0008362)1.68428761
188Cardiomegaly (HP:0001640)1.67841578
189Gingivitis (HP:0000230)1.66375693

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TGFBR23.80177138
2MUSK3.72953098
3ACVR1B3.43904961
4TYK22.95742394
5ERN12.75100519
6STK392.71877459
7LATS12.55333078
8ADRBK22.47618056
9OXSR12.44103121
10MAP4K22.41913491
11JAK12.36617745
12IRAK32.30537975
13TRIB32.26595521
14MAP3K142.26081088
15TBK12.24933580
16NEK92.06273437
17NUAK12.03730445
18PINK12.01765444
19WNK41.98602521
20BLK1.94702254
21CSF1R1.88550494
22KIT1.77534616
23IRAK41.77361135
24FGFR31.75555543
25MST1R1.72625813
26SIK11.70809358
27FGFR41.68890920
28PLK41.67686319
29MAP4K11.62019015
30TIE11.60728056
31IKBKE1.59907898
32FRK1.54664886
33EPHB11.41512639
34MATK1.39112851
35CAMK1D1.38188967
36JAK31.37564946
37CSK1.34019584
38WNK31.29518005
39STK38L1.26423141
40CAMKK21.26090846
41PTK61.23841826
42MST41.23034028
43MAP2K61.22292178
44KDR1.20006216
45GRK71.18772539
46TLK11.15950794
47ADRBK11.15418496
48MYLK1.15364752
49IKBKB1.14269440
50MAP3K121.11826527
51TAOK31.10482095
52GRK11.09638140
53RIPK11.08833691
54TXK1.06903006
55MAP3K131.06013834
56CAMK1G1.03578063
57STK31.02632704
58BMX1.02405920
59STK101.02377173
60AKT30.99293014
61ZAK0.98182493
62STK240.97174752
63ERBB30.95725548
64RIPK40.95586908
65MAPKAPK30.94861396
66JAK20.93285306
67BCR0.92754547
68EPHA20.91627837
69TRIM280.89960339
70IGF1R0.89909612
71LMTK20.88327219
72LYN0.87812522
73MAPK120.86968676
74PLK20.86721620
75FGR0.86494352
76PRKAA20.84668024
77GRK50.83465424
78BMPR1B0.82040549
79INSRR0.78585791
80TEC0.77638379
81CASK0.77001671
82ZAP700.76326674
83MAPK70.74988661
84SGK30.74793565
85PIK3CG0.74033114
86CSNK1A1L0.72943558
87BRSK20.72327089
88LRRK20.71663060
89NEK60.70314373
90MAPK150.69628231
91SYK0.67776435
92NTRK20.67724073
93EPHB20.66669345
94PBK0.66209333
95HCK0.64553427
96EPHA30.63982535
97TRPM70.63413479
98CSNK1G30.63155276
99PRKCE0.62637297
100DMPK0.62437042
101CSNK1G20.62382781
102DAPK20.59161306
103PHKG10.59045557
104PHKG20.59045557
105PDK10.58555029
106MET0.58551367
107PRKCA0.58285495
108SGK20.57451981
109MAP3K40.56719560
110PTK2B0.56381039
111NTRK10.56319325
112FER0.56224319
113EIF2AK30.55588872
114PDPK10.54792452
115EGFR0.54407709
116PDK20.54299242
117CSNK1G10.54279982
118TNIK0.53798975
119PIK3CA0.51851217
120PRKCQ0.50632796
121ABL10.49892627
122GRK60.48355374
123MARK30.48220370
124MOS0.48032935
125IRAK10.48013134
126PRKD10.47686514
127CHUK0.47309317
128PAK30.47269239
129BMPR20.47114442
130PRKACA0.46790808
131STK160.46363327
132NLK0.46331177
133PRKG20.46217691
134EIF2AK20.46172347
135CAMKK10.45920308
136TGFBR10.45451951
137MAPKAPK50.45203080
138PRKD20.44047216
139RPS6KA50.43197431
140MAP3K10.42477099
141ABL20.41993635
142MAP3K20.41388129
143INSR0.41198226
144FGFR20.39332437
145MAPK110.37632277
146ERBB20.37599292
147PRKCD0.36372514
148PIM20.36279312
149PRKACG0.36101299
150CSNK1A10.35908999
151DDR20.35870173
152LCK0.35508075
153PRKCG0.35202179
154SRC0.34993674
155FES0.34864853
156ITK0.33820993

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009103.27468360
2Cyanoamino acid metabolism_Homo sapiens_hsa004602.78716904
3Staphylococcus aureus infection_Homo sapiens_hsa051502.56328542
4Chemical carcinogenesis_Homo sapiens_hsa052042.51348732
5Retinol metabolism_Homo sapiens_hsa008302.50218221
6Linoleic acid metabolism_Homo sapiens_hsa005912.48421654
7Steroid hormone biosynthesis_Homo sapiens_hsa001402.47510407
8Fatty acid biosynthesis_Homo sapiens_hsa000612.33257025
9Glycosaminoglycan degradation_Homo sapiens_hsa005312.27666435
10Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.25837491
11Histidine metabolism_Homo sapiens_hsa003402.22272404
12Asthma_Homo sapiens_hsa053102.14331460
13Lysosome_Homo sapiens_hsa041422.14312857
14alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.03644099
15Malaria_Homo sapiens_hsa051441.93844961
16* Toll-like receptor signaling pathway_Homo sapiens_hsa046201.91315439
17Fatty acid metabolism_Homo sapiens_hsa012121.74398331
18Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.73569981
19Drug metabolism - other enzymes_Homo sapiens_hsa009831.68691360
20Leishmaniasis_Homo sapiens_hsa051401.68449234
21Maturity onset diabetes of the young_Homo sapiens_hsa049501.68314161
22Allograft rejection_Homo sapiens_hsa053301.58816465
23Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.57004526
24Complement and coagulation cascades_Homo sapiens_hsa046101.56028861
25Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.53316625
26Autoimmune thyroid disease_Homo sapiens_hsa053201.53072525
27Sulfur metabolism_Homo sapiens_hsa009201.51594958
28African trypanosomiasis_Homo sapiens_hsa051431.51401790
29Other glycan degradation_Homo sapiens_hsa005111.51172554
30Mineral absorption_Homo sapiens_hsa049781.48908912
31Pertussis_Homo sapiens_hsa051331.48898360
32Graft-versus-host disease_Homo sapiens_hsa053321.48672978
33Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.46929378
34Osteoclast differentiation_Homo sapiens_hsa043801.43870065
35Glycerolipid metabolism_Homo sapiens_hsa005611.43866197
36Arachidonic acid metabolism_Homo sapiens_hsa005901.40774617
37Toxoplasmosis_Homo sapiens_hsa051451.35961040
38Caffeine metabolism_Homo sapiens_hsa002321.34744520
39Type I diabetes mellitus_Homo sapiens_hsa049401.33511369
40PPAR signaling pathway_Homo sapiens_hsa033201.32353221
41Butanoate metabolism_Homo sapiens_hsa006501.30570509
42Vitamin digestion and absorption_Homo sapiens_hsa049771.29673661
43Fatty acid degradation_Homo sapiens_hsa000711.25986486
44ABC transporters_Homo sapiens_hsa020101.22387769
45Primary bile acid biosynthesis_Homo sapiens_hsa001201.21296316
46Tuberculosis_Homo sapiens_hsa051521.21220736
47* Influenza A_Homo sapiens_hsa051641.17000393
48TNF signaling pathway_Homo sapiens_hsa046681.14693332
49Legionellosis_Homo sapiens_hsa051341.14574384
50Bile secretion_Homo sapiens_hsa049761.14491482
51RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.11069172
52Dorso-ventral axis formation_Homo sapiens_hsa043201.08195015
53NF-kappa B signaling pathway_Homo sapiens_hsa040641.05037532
54Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.04935456
55Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.01828313
56Fatty acid elongation_Homo sapiens_hsa000621.01723002
57Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.00447630
58Measles_Homo sapiens_hsa051620.98207706
59B cell receptor signaling pathway_Homo sapiens_hsa046620.95223106
60Salmonella infection_Homo sapiens_hsa051320.95079999
61Steroid biosynthesis_Homo sapiens_hsa001000.94433140
62Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.94266211
63Pancreatic secretion_Homo sapiens_hsa049720.94064352
64Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.93190116
65Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.93152332
66Amoebiasis_Homo sapiens_hsa051460.92077219
67Leukocyte transendothelial migration_Homo sapiens_hsa046700.90565147
68Arginine and proline metabolism_Homo sapiens_hsa003300.90176057
69AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.90110990
70Propanoate metabolism_Homo sapiens_hsa006400.88002257
71NOD-like receptor signaling pathway_Homo sapiens_hsa046210.87698196
72Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.87509362
73Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.86417324
74Adipocytokine signaling pathway_Homo sapiens_hsa049200.85495180
75Arginine biosynthesis_Homo sapiens_hsa002200.82933340
76Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.82106703
77Phenylalanine metabolism_Homo sapiens_hsa003600.80643650
78Pentose and glucuronate interconversions_Homo sapiens_hsa000400.80098172
79Ether lipid metabolism_Homo sapiens_hsa005650.79944619
80Chemokine signaling pathway_Homo sapiens_hsa040620.79652133
81* Hepatitis C_Homo sapiens_hsa051600.79314138
82Tyrosine metabolism_Homo sapiens_hsa003500.79185228
83Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.79142772
84Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.77256735
85Phototransduction_Homo sapiens_hsa047440.76949316
86Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.76757132
87ECM-receptor interaction_Homo sapiens_hsa045120.76713459
88Adherens junction_Homo sapiens_hsa045200.76688248
89Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.76082449
90Rheumatoid arthritis_Homo sapiens_hsa053230.75383774
91Carbohydrate digestion and absorption_Homo sapiens_hsa049730.73789143
92Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.71968063
93Hematopoietic cell lineage_Homo sapiens_hsa046400.69904151
94Jak-STAT signaling pathway_Homo sapiens_hsa046300.67538086
95Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.67435444
96Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.66940235
97Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.66859703
98Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.64962343
99Platelet activation_Homo sapiens_hsa046110.64314611
100Ovarian steroidogenesis_Homo sapiens_hsa049130.63261831
101Peroxisome_Homo sapiens_hsa041460.62785182
102Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.62087283
103Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.61824253
104Focal adhesion_Homo sapiens_hsa045100.61556044
105Phagosome_Homo sapiens_hsa041450.59665789
106Renin-angiotensin system_Homo sapiens_hsa046140.58470506
107Small cell lung cancer_Homo sapiens_hsa052220.57488652
108Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.56601786
109Viral myocarditis_Homo sapiens_hsa054160.56301132
110Starch and sucrose metabolism_Homo sapiens_hsa005000.55558464
111Sphingolipid signaling pathway_Homo sapiens_hsa040710.54820929
112Proteoglycans in cancer_Homo sapiens_hsa052050.54540473
113Intestinal immune network for IgA production_Homo sapiens_hsa046720.53989804
114Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.53938195
115Glutathione metabolism_Homo sapiens_hsa004800.52565849
116Insulin resistance_Homo sapiens_hsa049310.52373362
117Sphingolipid metabolism_Homo sapiens_hsa006000.50900965
118Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50798344
119Antigen processing and presentation_Homo sapiens_hsa046120.50173636
120* Herpes simplex infection_Homo sapiens_hsa051680.50131620
121Pancreatic cancer_Homo sapiens_hsa052120.50085257
122Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.47140852
123Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.46908916
124Salivary secretion_Homo sapiens_hsa049700.46512863
125Metabolic pathways_Homo sapiens_hsa011000.46492512
126Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.45837435
127Apoptosis_Homo sapiens_hsa042100.45676137
128Thyroid hormone signaling pathway_Homo sapiens_hsa049190.45643625
129Shigellosis_Homo sapiens_hsa051310.43637893
130Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.43334413
131Regulation of actin cytoskeleton_Homo sapiens_hsa048100.43276261
132Prion diseases_Homo sapiens_hsa050200.42720445
133Glycerophospholipid metabolism_Homo sapiens_hsa005640.42270749
134Protein digestion and absorption_Homo sapiens_hsa049740.42142727
135Galactose metabolism_Homo sapiens_hsa000520.41433857
136Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.40248102
137beta-Alanine metabolism_Homo sapiens_hsa004100.40181336
138Fat digestion and absorption_Homo sapiens_hsa049750.40075104
139Tryptophan metabolism_Homo sapiens_hsa003800.39133005
140Serotonergic synapse_Homo sapiens_hsa047260.36340043
141Selenocompound metabolism_Homo sapiens_hsa004500.30044750
142Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.26885671
143Renin secretion_Homo sapiens_hsa049240.22468384
144Regulation of autophagy_Homo sapiens_hsa041400.22357459
145Insulin secretion_Homo sapiens_hsa049110.21723667
146Oxidative phosphorylation_Homo sapiens_hsa001900.20499608
147Olfactory transduction_Homo sapiens_hsa047400.19193811
148Taste transduction_Homo sapiens_hsa047420.14899133
149Thyroid hormone synthesis_Homo sapiens_hsa049180.10940549
150Vascular smooth muscle contraction_Homo sapiens_hsa042700.10350927
151Cardiac muscle contraction_Homo sapiens_hsa042600.09840585

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