LGR5

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 leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. Several transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1very-low-density lipoprotein particle assembly (GO:0034379)6.75644111
2plasma lipoprotein particle assembly (GO:0034377)6.62951404
3protein-lipid complex assembly (GO:0065005)5.96638938
4low-density lipoprotein particle remodeling (GO:0034374)5.75929578
5negative regulation of fibrinolysis (GO:0051918)5.45771006
6regulation of somitogenesis (GO:0014807)4.89551785
7regulation of apoptotic cell clearance (GO:2000425)4.85795978
8regulation of fibrinolysis (GO:0051917)4.63259340
9intestinal cholesterol absorption (GO:0030299)4.59463027
10plasma lipoprotein particle organization (GO:0071827)4.57712291
11regulation of non-canonical Wnt signaling pathway (GO:2000050)4.52580119
12protein carboxylation (GO:0018214)4.52030595
13peptidyl-glutamic acid carboxylation (GO:0017187)4.52030595
14cholesterol efflux (GO:0033344)4.50558280
15regulation of protein activation cascade (GO:2000257)4.50171862
16regulation of complement activation (GO:0030449)4.44196137
17protein-lipid complex remodeling (GO:0034368)4.43705687
18macromolecular complex remodeling (GO:0034367)4.43705687
19plasma lipoprotein particle remodeling (GO:0034369)4.43705687
20protein-lipid complex subunit organization (GO:0071825)4.33980590
21negative regulation of keratinocyte proliferation (GO:0010839)4.33391694
22polyketide metabolic process (GO:0030638)4.29733143
23doxorubicin metabolic process (GO:0044598)4.29733143
24daunorubicin metabolic process (GO:0044597)4.29733143
25regulation of cholesterol esterification (GO:0010872)4.14061333
26embryonic retina morphogenesis in camera-type eye (GO:0060059)4.13821418
27anterior/posterior axis specification, embryo (GO:0008595)4.07178032
28blood coagulation, intrinsic pathway (GO:0007597)4.03549788
29reverse cholesterol transport (GO:0043691)3.92214886
30regulation of bile acid biosynthetic process (GO:0070857)3.89746508
31cell proliferation involved in kidney development (GO:0072111)3.86409192
32high-density lipoprotein particle remodeling (GO:0034375)3.83935857
33limb bud formation (GO:0060174)3.75606383
34positive regulation of dendritic spine morphogenesis (GO:0061003)3.74321065
35mesenchymal cell proliferation (GO:0010463)3.70070698
36adenine nucleotide transport (GO:0051503)3.69409254
37nephron tubule morphogenesis (GO:0072078)3.69351795
38nephron epithelium morphogenesis (GO:0072088)3.69351795
39inner ear receptor cell differentiation (GO:0060113)3.64139888
40anterior/posterior axis specification (GO:0009948)3.58269803
41purine ribonucleotide transport (GO:0015868)3.56400013
42plasma lipoprotein particle clearance (GO:0034381)3.51295894
43cranial nerve morphogenesis (GO:0021602)3.48775621
44intestinal absorption (GO:0050892)3.48655011
45lung epithelium development (GO:0060428)3.48613184
46diacylglycerol metabolic process (GO:0046339)3.46306626
47primitive streak formation (GO:0090009)3.46199667
48sympathetic nervous system development (GO:0048485)3.43721385
49SMAD protein signal transduction (GO:0060395)3.42741172
50regulation of secondary heart field cardioblast proliferation (GO:0003266)3.41420705
51regulation of cardioblast proliferation (GO:0003264)3.41420705
52auditory receptor cell differentiation (GO:0042491)3.39877766
53bone trabecula formation (GO:0060346)3.39505207
54triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.38690850
55cell migration involved in gastrulation (GO:0042074)3.36390274
56response to muscle activity (GO:0014850)3.34417278
57mechanoreceptor differentiation (GO:0042490)3.30904578
58extracellular regulation of signal transduction (GO:1900115)3.30086976
59extracellular negative regulation of signal transduction (GO:1900116)3.30086976
60regulation of cholesterol homeostasis (GO:2000188)3.27111256
61mesenchymal cell differentiation involved in renal system development (GO:2001012)3.24907572
62mesenchymal cell differentiation involved in kidney development (GO:0072161)3.24907572
63regulation of plasminogen activation (GO:0010755)3.20659563
64negative regulation of activin receptor signaling pathway (GO:0032926)3.18772838
65regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)3.17408361
66regulation of norepinephrine secretion (GO:0014061)3.16147221
67regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.15941171
68cell proliferation involved in metanephros development (GO:0072203)3.15847722
69purine nucleotide transport (GO:0015865)3.12862062
70negative regulation of sodium ion transport (GO:0010766)3.12524884
71C4-dicarboxylate transport (GO:0015740)3.10421857
72inner ear receptor stereocilium organization (GO:0060122)3.10316252
73lipoprotein metabolic process (GO:0042157)3.08106997
74regulation of keratinocyte proliferation (GO:0010837)3.07233697
75eye photoreceptor cell differentiation (GO:0001754)3.06464896
76photoreceptor cell differentiation (GO:0046530)3.06464896
77female gonad development (GO:0008585)3.05813050
78lateral sprouting from an epithelium (GO:0060601)3.04340074
79endocardial cushion development (GO:0003197)3.03009495
80embryonic foregut morphogenesis (GO:0048617)3.02683235
81sequestering of extracellular ligand from receptor (GO:0035581)3.01772886
82photoreceptor cell maintenance (GO:0045494)3.01515059
83reflex (GO:0060004)3.01347504
84righting reflex (GO:0060013)3.00520674
85mesenchyme morphogenesis (GO:0072132)2.99355562
86positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)2.98570248
87negative regulation of protein activation cascade (GO:2000258)2.98278470
88phospholipid efflux (GO:0033700)2.97872482
89phospholipid scrambling (GO:0017121)2.95271140
90proline metabolic process (GO:0006560)2.94059981
91detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.93520087
92embryonic skeletal joint morphogenesis (GO:0060272)2.92917288
93negative regulation of astrocyte differentiation (GO:0048712)2.92055954
94mesonephros development (GO:0001823)2.91950391
95regulation of branching involved in ureteric bud morphogenesis (GO:0090189)2.91811685
96pharyngeal system development (GO:0060037)2.89302002
97proline biosynthetic process (GO:0006561)2.88857596
98erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.88480142
99L-phenylalanine catabolic process (GO:0006559)2.88480142
100negative regulation of digestive system process (GO:0060457)2.86627412
101regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.86594514
102middle ear morphogenesis (GO:0042474)2.86204497
103detection of molecule of bacterial origin (GO:0032490)2.85805714
104dentate gyrus development (GO:0021542)2.85616399
105vitamin transmembrane transport (GO:0035461)2.82274081
106low-density lipoprotein particle clearance (GO:0034383)2.82212821
107superoxide anion generation (GO:0042554)2.81490703
108omega-hydroxylase P450 pathway (GO:0097267)2.80983161
109adenosine metabolic process (GO:0046085)2.80756100
110regulation of mesoderm development (GO:2000380)2.79304888
111signal transduction involved in regulation of gene expression (GO:0023019)2.77878821
112cellular anion homeostasis (GO:0030002)2.77801040
113head development (GO:0060322)2.76411582
114mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.76300299
115epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.75640940
116auditory receptor cell stereocilium organization (GO:0060088)2.75571041
117dorsal/ventral axis specification (GO:0009950)2.73862527
118post-embryonic morphogenesis (GO:0009886)2.73829257
119negative regulation of norepinephrine secretion (GO:0010700)2.73113749
120uterus development (GO:0060065)2.68869044
121mesenchymal cell differentiation (GO:0048762)2.68516203
122embryonic cranial skeleton morphogenesis (GO:0048701)2.67053686
123ganglion development (GO:0061548)2.66592303
124heart valve morphogenesis (GO:0003179)2.66297332
125negative regulation of cholesterol transport (GO:0032375)2.66202982
126negative regulation of sterol transport (GO:0032372)2.66202982
127opioid receptor signaling pathway (GO:0038003)2.66139053
128outer ear morphogenesis (GO:0042473)2.65725304
1294-hydroxyproline metabolic process (GO:0019471)2.65652924
130receptor catabolic process (GO:0032801)2.64195965
131cerebral cortex radially oriented cell migration (GO:0021799)2.63388325
132neural crest cell development (GO:0014032)2.63068119
133erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.62803324
134L-phenylalanine metabolic process (GO:0006558)2.62803324
135regulation of mesenchymal cell apoptotic process (GO:2001053)2.61734894
136organ formation (GO:0048645)2.61562767
137desmosome organization (GO:0002934)2.61508501
138fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.61341483
139G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.61194904
140sterol transport (GO:0015918)2.61121288
141cholesterol transport (GO:0030301)2.61121288
142startle response (GO:0001964)2.61098231
143planar cell polarity pathway involved in neural tube closure (GO:0090179)2.59257983
144negative regulation of myoblast differentiation (GO:0045662)2.59209747
145response to BMP (GO:0071772)2.57072971
146cellular response to BMP stimulus (GO:0071773)2.57072971
147cholesterol homeostasis (GO:0042632)2.56677696
148negative regulation of mesenchymal cell apoptotic process (GO:2001054)2.56194433
149positive regulation of uterine smooth muscle contraction (GO:0070474)2.56156938
150sterol homeostasis (GO:0055092)2.55966494
151positive regulation of extracellular matrix organization (GO:1903055)2.55856870
152kidney morphogenesis (GO:0060993)2.55149969
153notochord development (GO:0030903)2.54625307
154renal tubule morphogenesis (GO:0061333)2.54557755
155regulation of timing of cell differentiation (GO:0048505)2.54522704
156digestive tract morphogenesis (GO:0048546)2.54032063
157regulation of cholesterol biosynthetic process (GO:0045540)2.53975632
158inner ear morphogenesis (GO:0042472)2.51857338
159estrogen biosynthetic process (GO:0006703)2.51747897
160mesenchymal cell development (GO:0014031)2.51518127
161regulation of male gonad development (GO:2000018)2.51397186
162neurotransmitter-gated ion channel clustering (GO:0072578)2.50782311
163response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.50280915
164endocardial cushion morphogenesis (GO:0003203)2.48274504
165inner ear receptor cell development (GO:0060119)2.48117567
166androgen biosynthetic process (GO:0006702)2.47864429
167keratinocyte proliferation (GO:0043616)2.47668776
168complement activation, alternative pathway (GO:0006957)2.47010135
169regulation of interleukin-8 secretion (GO:2000482)2.46721741
170metanephric mesenchyme development (GO:0072075)2.46349098
171central nervous system myelination (GO:0022010)2.46065373
172axon ensheathment in central nervous system (GO:0032291)2.46065373
173cell proliferation in forebrain (GO:0021846)2.45691332
174fat-soluble vitamin catabolic process (GO:0042363)2.45322267
175vitamin catabolic process (GO:0009111)2.45322267
176detection of light stimulus involved in sensory perception (GO:0050962)2.44406086
177detection of light stimulus involved in visual perception (GO:0050908)2.44406086
178regulation of interleukin-5 production (GO:0032674)2.44398275
179negative regulation of stem cell proliferation (GO:2000647)2.44184362
180renal system process involved in regulation of systemic arterial blood pressure (GO:0003071)2.42403996
181mesenchymal-epithelial cell signaling (GO:0060638)2.41292706
182regulation of mesonephros development (GO:0061217)2.39584979
183regulation of steroid hormone biosynthetic process (GO:0090030)2.39224231
184regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.38635701
185regulation of development, heterochronic (GO:0040034)2.37897182
186behavioral response to nicotine (GO:0035095)2.37661004
187presynaptic membrane assembly (GO:0097105)2.37593612
188regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.37312390
189retina layer formation (GO:0010842)2.34619530
190behavioral response to ethanol (GO:0048149)2.34196882
191histone H2B ubiquitination (GO:0033523)2.34012381
192energy homeostasis (GO:0097009)2.33550899
193cell differentiation involved in kidney development (GO:0061005)2.32067654
194stem cell development (GO:0048864)2.31936052

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse6.13053286
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse5.28613442
3CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human4.44316041
4EZH2_22144423_ChIP-Seq_EOC_Human3.98723617
5* GBX2_23144817_ChIP-Seq_PC3_Human3.41126086
6* FOXA2_19822575_ChIP-Seq_HepG2_Human3.37598854
7AR_21909140_ChIP-Seq_LNCAP_Human3.10103223
8GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.67877355
9EED_16625203_ChIP-ChIP_MESCs_Mouse2.63859916
10JARID2_20064375_ChIP-Seq_MESCs_Mouse2.53836297
11ZFP57_27257070_Chip-Seq_ESCs_Mouse2.46917325
12RXR_22158963_ChIP-Seq_LIVER_Mouse2.44692291
13BMI1_23680149_ChIP-Seq_NPCS_Mouse2.43949340
14LXR_22158963_ChIP-Seq_LIVER_Mouse2.40277814
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.40269257
16* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.38552482
17* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.34098083
18* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.30485999
19CBX2_27304074_Chip-Seq_ESCs_Mouse2.30124748
20* HNF4A_19822575_ChIP-Seq_HepG2_Human2.29814787
21* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.25445318
22* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.22447947
23* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.22447947
24* SMAD3_21741376_ChIP-Seq_HESCs_Human2.21079136
25JARID2_20075857_ChIP-Seq_MESCs_Mouse2.19429864
26SALL4_18804426_ChIP-ChIP_XEN_Mouse2.16052273
27* PPARA_22158963_ChIP-Seq_LIVER_Mouse2.13380303
28TCF4_18268006_ChIP-ChIP_LS174T_Human2.10193592
29TP63_17297297_ChIP-ChIP_HaCaT_Human2.07685620
30PCGF2_27294783_Chip-Seq_ESCs_Mouse2.04834836
31* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.03619259
32ESR1_15608294_ChIP-ChIP_MCF-7_Human2.01470290
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.99774471
34NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.94682271
35* HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.93677532
36RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.91602453
37RBPJ_22232070_ChIP-Seq_NCS_Mouse1.91009988
38* RNF2_27304074_Chip-Seq_ESCs_Mouse1.88430669
39TAF15_26573619_Chip-Seq_HEK293_Human1.87575345
40PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.85790990
41* SMAD4_21741376_ChIP-Seq_HESCs_Human1.84011854
42PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.83671793
43* EZH2_27294783_Chip-Seq_ESCs_Mouse1.83328264
44CDX2_20551321_ChIP-Seq_CACO-2_Human1.80072849
45SUZ12_27294783_Chip-Seq_NPCs_Mouse1.79512259
46PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.78826469
47PIAS1_25552417_ChIP-Seq_VCAP_Human1.78453671
48PCGF2_27294783_Chip-Seq_NPCs_Mouse1.77942897
49FLI1_27457419_Chip-Seq_LIVER_Mouse1.73964721
50TP53_16413492_ChIP-PET_HCT116_Human1.73604768
51* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.72110385
52P300_19829295_ChIP-Seq_ESCs_Human1.71506560
53NFE2_27457419_Chip-Seq_LIVER_Mouse1.71212301
54POU3F2_20337985_ChIP-ChIP_501MEL_Human1.67627532
55IGF1R_20145208_ChIP-Seq_DFB_Human1.66218961
56AR_21572438_ChIP-Seq_LNCaP_Human1.64372495
57* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.62018122
58CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.60029407
59EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.59783706
60NANOG_18555785_Chip-Seq_ESCs_Mouse1.59408791
61FOXM1_23109430_ChIP-Seq_U2OS_Human1.59234729
62* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.56211263
63TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.55895102
64P53_22387025_ChIP-Seq_ESCs_Mouse1.54634482
65E2F7_22180533_ChIP-Seq_HELA_Human1.54423028
66PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.54375589
67EZH2_27294783_Chip-Seq_NPCs_Mouse1.53790243
68TP53_18474530_ChIP-ChIP_U2OS_Human1.52068973
69* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.50767435
70RNF2_27304074_Chip-Seq_NSC_Mouse1.50102905
71SUZ12_18555785_Chip-Seq_ESCs_Mouse1.49715455
72E2F1_18555785_Chip-Seq_ESCs_Mouse1.49322137
73* GATA4_25053715_ChIP-Seq_YYC3_Human1.49299728
74KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.48316803
75CTBP1_25329375_ChIP-Seq_LNCAP_Human1.46086233
76CDX2_19796622_ChIP-Seq_MESCs_Mouse1.45567530
77CLOCK_20551151_ChIP-Seq_293T_Human1.45366509
78EP300_21415370_ChIP-Seq_HL-1_Mouse1.45136753
79CTBP2_25329375_ChIP-Seq_LNCAP_Human1.44149120
80SMAD3_21741376_ChIP-Seq_EPCs_Human1.44041806
81HIF1A_21447827_ChIP-Seq_MCF-7_Human1.44007353
82FUS_26573619_Chip-Seq_HEK293_Human1.42179740
83ZNF217_24962896_ChIP-Seq_MCF-7_Human1.41851048
84* EOMES_21245162_ChIP-Seq_HESCs_Human1.41532687
85CMYC_18555785_Chip-Seq_ESCs_Mouse1.40142122
86TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.38595222
87POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.38595222
88EGR1_23403033_ChIP-Seq_LIVER_Mouse1.36271043
89SMAD4_21799915_ChIP-Seq_A2780_Human1.36203564
90ISL1_27105846_Chip-Seq_CPCs_Mouse1.35904106
91* CTNNB1_20460455_ChIP-Seq_HCT116_Human1.35875411
92STAT3_18555785_Chip-Seq_ESCs_Mouse1.34953856
93P300_18555785_Chip-Seq_ESCs_Mouse1.34067856
94AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.33880842
95EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.33460642
96* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.32966920
97TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.32963970
98NMYC_18555785_Chip-Seq_ESCs_Mouse1.31698223
99CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.29896583
100DROSHA_22980978_ChIP-Seq_HELA_Human1.29457794
101SALL1_21062744_ChIP-ChIP_HESCs_Human1.28800439
102SMAD4_21741376_ChIP-Seq_EPCs_Human1.28743284
103CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27621525
104OCT4_18555785_Chip-Seq_ESCs_Mouse1.26642657
105EWS_26573619_Chip-Seq_HEK293_Human1.25882876
106TOP2B_26459242_ChIP-Seq_MCF-7_Human1.25435146
107POU5F1_16153702_ChIP-ChIP_HESCs_Human1.24623944
108TP63_19390658_ChIP-ChIP_HaCaT_Human1.22754559
109SOX2_18555785_Chip-Seq_ESCs_Mouse1.22460027
110ZFX_18555785_Chip-Seq_ESCs_Mouse1.21639335
111SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.21192696
112PU1_27457419_Chip-Seq_LIVER_Mouse1.20485918
113RUNX1_27457419_Chip-Seq_LIVER_Mouse1.20353325
114TRIM28_21343339_ChIP-Seq_HEK293_Human1.17352272
115* AR_25329375_ChIP-Seq_VCAP_Human1.16502589
116ESRRB_18555785_Chip-Seq_ESCs_Mouse1.15737860
117ARNT_22903824_ChIP-Seq_MCF-7_Human1.15611230
118* KDM2B_26808549_Chip-Seq_REH_Human1.15351909
119RUNX2_22187159_ChIP-Seq_PCA_Human1.15220544
120* FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.14060243
121SMAD_19615063_ChIP-ChIP_OVARY_Human1.13780253
122TAL1_26923725_Chip-Seq_HPCs_Mouse1.13704508
123SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.13160077
124* FOXO3_23340844_ChIP-Seq_DLD1_Human1.12621897
125ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.11677251
126KLF4_18555785_Chip-Seq_ESCs_Mouse1.11207013
127AHR_22903824_ChIP-Seq_MCF-7_Human1.10893349
128P53_22127205_ChIP-Seq_FIBROBLAST_Human1.10559723
129NR3C1_21868756_ChIP-Seq_MCF10A_Human1.10304061
130TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.10227282
131STAT3_23295773_ChIP-Seq_U87_Human1.10084633
132* CRX_20693478_ChIP-Seq_RETINA_Mouse1.09869563
133TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.09662479
134ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.08533530
135* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.08402985
136SMAD1_18555785_Chip-Seq_ESCs_Mouse1.08021877
137* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.07603083
138TBX3_20139965_ChIP-Seq_ESCs_Mouse1.05906388
139* TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.05057122
140TBX3_20139965_ChIP-Seq_MESCs_Mouse1.04617279
141NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.04594062
142FOXM1_26456572_ChIP-Seq_MCF-7_Human1.02176437
143NANOG_16153702_ChIP-ChIP_HESCs_Human1.02000374
144SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.01099480
145TCF3_18692474_ChIP-Seq_MESCs_Mouse1.01079028
146WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.00559195
147NRF2_20460467_ChIP-Seq_MEFs_Mouse0.98606375
148NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.98606375
149* SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.97285719
150ESR1_20079471_ChIP-ChIP_T-47D_Human0.96144687
151* GATA6_25053715_ChIP-Seq_YYC3_Human0.95626236
152* FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.94372558
153TCF3_18692474_ChIP-Seq_MEFs_Mouse0.93069722
154KLF5_20875108_ChIP-Seq_MESCs_Mouse0.92354934
155ZNF274_21170338_ChIP-Seq_K562_Hela0.91829284
156WT1_19549856_ChIP-ChIP_CCG9911_Human0.90405607
157CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.89984229
158ESR1_21235772_ChIP-Seq_MCF-7_Human0.88653750
159PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.87779578
160NFIB_24661679_ChIP-Seq_LUNG_Mouse0.87241758
161SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.86802074
162DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.85832992
163ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.85598654
164POU5F1_16518401_ChIP-PET_MESCs_Mouse0.83917288
165TCF4_22108803_ChIP-Seq_LS180_Human0.83077266
166* RING1B_27294783_Chip-Seq_NPCs_Mouse0.82029542
167TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.80418481
168RARG_19884340_ChIP-ChIP_MEFs_Mouse0.79218468

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000566_synostosis5.27568215
2MP0003890_abnormal_embryonic-extraembry4.93916977
3MP0002102_abnormal_ear_morphology3.97992014
4MP0003195_calcinosis3.17903151
5MP0006054_spinal_hemorrhage3.13529004
6MP0003878_abnormal_ear_physiology3.06213179
7MP0005377_hearing/vestibular/ear_phenot3.06213179
8MP0001666_abnormal_nutrient_absorption3.00364623
9MP0003123_paternal_imprinting2.92443365
10MP0003136_yellow_coat_color2.78705588
11MP0005365_abnormal_bile_salt2.77861153
12MP0001188_hyperpigmentation2.74067492
13MP0005503_abnormal_tendon_morphology2.68208292
14MP0002139_abnormal_hepatobiliary_system2.65088971
15MP0003787_abnormal_imprinting2.59896932
16MP0003941_abnormal_skin_development2.49630618
17MP0001485_abnormal_pinna_reflex2.48297544
18MP0000026_abnormal_inner_ear2.47880559
19MP0005360_urolithiasis2.39272057
20MP0010329_abnormal_lipoprotein_level2.34645760
21MP0005171_absent_coat_pigmentation2.31932888
22MP0002249_abnormal_larynx_morphology2.31376184
23MP0005645_abnormal_hypothalamus_physiol2.18807648
24MP0004381_abnormal_hair_follicle2.16964788
25MP0000049_abnormal_middle_ear2.16589621
26MP0003879_abnormal_hair_cell2.16353360
27MP0003121_genomic_imprinting2.16065178
28MP0006292_abnormal_olfactory_placode2.06894424
29MP0002277_abnormal_respiratory_mucosa2.05158734
30MP0001963_abnormal_hearing_physiology2.00595038
31MP0003868_abnormal_feces_composition1.95642239
32MP0000383_abnormal_hair_follicle1.94953434
33MP0003119_abnormal_digestive_system1.94890947
34MP0000579_abnormal_nail_morphology1.94067929
35MP0003567_abnormal_fetal_cardiomyocyte1.89688209
36MP0005451_abnormal_body_composition1.89044769
37MP0005085_abnormal_gallbladder_physiolo1.88861828
38MP0001346_abnormal_lacrimal_gland1.85668436
39MP0000462_abnormal_digestive_system1.84336406
40MP0002938_white_spotting1.82040742
41MP0004272_abnormal_basement_membrane1.79822472
42MP0008004_abnormal_stomach_pH1.78129446
43MP0009250_abnormal_appendicular_skeleto1.77935519
44MP0005551_abnormal_eye_electrophysiolog1.76302056
45MP0001486_abnormal_startle_reflex1.74740849
46MP0010386_abnormal_urinary_bladder1.70162003
47MP0000678_abnormal_parathyroid_gland1.69063197
48MP0010368_abnormal_lymphatic_system1.65300842
49MP0005248_abnormal_Harderian_gland1.64762681
50MP0001915_intracranial_hemorrhage1.60645816
51MP0004742_abnormal_vestibular_system1.59387756
52* MP0000762_abnormal_tongue_morphology1.53078152
53MP0009697_abnormal_copulation1.49590596
54MP0004264_abnormal_extraembryonic_tissu1.45658322
55MP0005187_abnormal_penis_morphology1.42682665
56MP0010030_abnormal_orbit_morphology1.42007755
57MP0002098_abnormal_vibrissa_morphology1.39524267
58MP0003011_delayed_dark_adaptation1.36585918
59MP0004134_abnormal_chest_morphology1.36009907
60MP0002089_abnormal_postnatal_growth/wei1.35089763
61MP0000427_abnormal_hair_cycle1.34020067
62MP0005508_abnormal_skeleton_morphology1.33591780
63MP0003938_abnormal_ear_development1.32450280
64MP0000538_abnormal_urinary_bladder1.32371305
65MP0008789_abnormal_olfactory_epithelium1.32005852
66MP0002233_abnormal_nose_morphology1.31197377
67MP0001293_anophthalmia1.28350536
68MP0003943_abnormal_hepatobiliary_system1.27103918
69MP0009379_abnormal_foot_pigmentation1.25124798
70MP0001984_abnormal_olfaction1.24462002
71MP0005408_hypopigmentation1.23784958
72MP0001529_abnormal_vocalization1.23236401
73MP0003385_abnormal_body_wall1.22275008
74MP0000534_abnormal_ureter_morphology1.21580723
75MP0003755_abnormal_palate_morphology1.21384434
76MP0003937_abnormal_limbs/digits/tail_de1.21348612
77MP0010678_abnormal_skin_adnexa1.20997227
78MP0002060_abnormal_skin_morphology1.20965770
79MP0005409_darkened_coat_color1.20557090
80MP0005646_abnormal_pituitary_gland1.20002763
81MP0000613_abnormal_salivary_gland1.18999392
82MP0004145_abnormal_muscle_electrophysio1.16748148
83MP0005380_embryogenesis_phenotype1.14670759
84MP0001672_abnormal_embryogenesis/_devel1.14670759
85MP0001986_abnormal_taste_sensitivity1.14434897
86MP0005076_abnormal_cell_differentiation1.13317386
87MP0002697_abnormal_eye_size1.12203870
88MP0003252_abnormal_bile_duct1.10628378
89MP0004133_heterotaxia1.10589082
90MP0000372_irregular_coat_pigmentation1.10411301
91MP0002160_abnormal_reproductive_system1.08636087
92MP0002084_abnormal_developmental_patter1.08498205
93MP0008875_abnormal_xenobiotic_pharmacok1.07912022
94MP0002092_abnormal_eye_morphology1.07738183
95MP0002735_abnormal_chemical_nociception1.07724420
96MP0002932_abnormal_joint_morphology1.07297733
97MP0002127_abnormal_cardiovascular_syste1.07035113
98MP0003115_abnormal_respiratory_system1.05955919
99MP0005253_abnormal_eye_physiology1.04022874
100MP0000639_abnormal_adrenal_gland1.02832841
101MP0002111_abnormal_tail_morphology1.02696816
102MP0002752_abnormal_somatic_nervous1.02361257
103MP0002116_abnormal_craniofacial_bone1.01423967
104MP0002177_abnormal_outer_ear1.01354968
105MP0003984_embryonic_growth_retardation1.00934589
106MP0006276_abnormal_autonomic_nervous1.00019340
107MP0002638_abnormal_pupillary_reflex0.98665842
108MP0002088_abnormal_embryonic_growth/wei0.98469922
109MP0005275_abnormal_skin_tensile0.96897604
110MP0000631_abnormal_neuroendocrine_gland0.96515837
111MP0000428_abnormal_craniofacial_morphol0.96371142
112MP0001286_abnormal_eye_development0.95662685
113MP0005257_abnormal_intraocular_pressure0.94122703
114MP0002132_abnormal_respiratory_system0.94043546
115MP0000467_abnormal_esophagus_morphology0.93396722
116MP0001661_extended_life_span0.93187769
117MP0003646_muscle_fatigue0.92592009
118MP0002109_abnormal_limb_morphology0.92434975
119MP0000681_abnormal_thyroid_gland0.91588186
120MP0000537_abnormal_urethra_morphology0.88971864
121MP0001324_abnormal_eye_pigmentation0.88822308
122MP0009384_cardiac_valve_regurgitation0.88104075
123MP0000647_abnormal_sebaceous_gland0.87375186
124MP0006072_abnormal_retinal_apoptosis0.87253246
125MP0001340_abnormal_eyelid_morphology0.85894901
126MP0002086_abnormal_extraembryonic_tissu0.85301893
127MP0010630_abnormal_cardiac_muscle0.84773178
128MP0002254_reproductive_system_inflammat0.84333747
129MP0003942_abnormal_urinary_system0.83467349
130MP0000163_abnormal_cartilage_morphology0.82965290
131MP0001968_abnormal_touch/_nociception0.82578840
132MP0002751_abnormal_autonomic_nervous0.82247854
133MP0005084_abnormal_gallbladder_morpholo0.81323687
134MP0002067_abnormal_sensory_capabilities0.80814416
135MP0005195_abnormal_posterior_eye0.80187006
136MP0002085_abnormal_embryonic_tissue0.80180615
137MP0001730_embryonic_growth_arrest0.79762566
138MP0000470_abnormal_stomach_morphology0.77900821
139MP0002115_abnormal_skeleton_extremities0.77342423
140MP0004019_abnormal_vitamin_homeostasis0.76606039
141MP0002282_abnormal_trachea_morphology0.76380164
142MP0002269_muscular_atrophy0.76104016
143MP0005330_cardiomyopathy0.75591027
144MP0003880_abnormal_central_pattern0.74931462
145MP0010771_integument_phenotype0.74904226
146MP0001697_abnormal_embryo_size0.74836348
147MP0002106_abnormal_muscle_physiology0.74480707
148MP0002114_abnormal_axial_skeleton0.74401381
149MP0005394_taste/olfaction_phenotype0.74331675
150MP0005499_abnormal_olfactory_system0.74331675
151MP0003122_maternal_imprinting0.73788949
152MP0003935_abnormal_craniofacial_develop0.73272504
153MP0003315_abnormal_perineum_morphology0.72926508
154MP0000778_abnormal_nervous_system0.72698036
155MP0002925_abnormal_cardiovascular_devel0.72408939
156MP0005369_muscle_phenotype0.71822060
157MP0003632_abnormal_nervous_system0.71089198
158MP0008438_abnormal_cutaneous_collagen0.70972466
159MP0005391_vision/eye_phenotype0.70808996
160MP0005367_renal/urinary_system_phenotyp0.70775123
161MP0000516_abnormal_urinary_system0.70775123
162MP0002557_abnormal_social/conspecific_i0.70722808
163MP0003566_abnormal_cell_adhesion0.70696727
164MP0001177_atelectasis0.70018951
165MP0002118_abnormal_lipid_homeostasis0.69615048
166MP0000432_abnormal_head_morphology0.69234951
167MP0001299_abnormal_eye_distance/0.68918278
168MP0000609_abnormal_liver_physiology0.67366261

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.28345171
2Prolonged partial thromboplastin time (HP:0003645)5.27147335
3Congenital sensorineural hearing impairment (HP:0008527)5.19181262
4Small epiphyses (HP:0010585)4.69964552
5Hypobetalipoproteinemia (HP:0003563)4.38998475
6Abnormal tarsal ossification (HP:0008369)3.85836855
7Chromosomal breakage induced by crosslinking agents (HP:0003221)3.82402627
8Unilateral renal agenesis (HP:0000122)3.77287661
9Pancreatic islet-cell hyperplasia (HP:0004510)3.67279370
10Joint hemorrhage (HP:0005261)3.60302468
11Abnormality of carpal bone ossification (HP:0006257)3.54731783
12Congenital stationary night blindness (HP:0007642)3.51309834
13Irregular epiphyses (HP:0010582)3.47500486
14Aplasia cutis congenita (HP:0001057)3.42403343
15Acanthocytosis (HP:0001927)3.41357954
16Complement deficiency (HP:0004431)3.37072195
17Hypolipoproteinemia (HP:0010981)3.36436500
18Epiphyseal dysplasia (HP:0002656)3.36274742
19Chromsome breakage (HP:0040012)3.29771322
20Flat acetabular roof (HP:0003180)3.24860952
21Abnormality of the common coagulation pathway (HP:0010990)3.24691866
22Broad palm (HP:0001169)3.21434603
23Abnormality of the nasal septum (HP:0000419)3.19495953
24Broad alveolar ridges (HP:0000187)3.18474054
25Hypercholesterolemia (HP:0003124)3.12268931
26Decreased central vision (HP:0007663)3.01317948
27Renal duplication (HP:0000075)3.00554072
28Hepatoblastoma (HP:0002884)3.00134467
29Mixed hearing impairment (HP:0000410)2.96767675
30Abnormality of the pubic bones (HP:0003172)2.91305778
31Parakeratosis (HP:0001036)2.88855544
32Abnormal hand bone ossification (HP:0010660)2.88530367
33Abnormality of the renal collecting system (HP:0004742)2.84773931
34Anal stenosis (HP:0002025)2.82708522
35Lip pit (HP:0100267)2.82591220
36Dynein arm defect of respiratory motile cilia (HP:0012255)2.79889792
37Absent/shortened dynein arms (HP:0200106)2.79889792
38Renal dysplasia (HP:0000110)2.79800702
39Glomerulonephritis (HP:0000099)2.76615596
40Vaginal fistula (HP:0004320)2.75711746
41Dyschromatopsia (HP:0007641)2.74379171
42Morphological abnormality of the middle ear (HP:0008609)2.73965794
43Abnormal ossification of hand bones (HP:0005921)2.73518993
44Upper limb muscle weakness (HP:0003484)2.72592341
45Epidermoid cyst (HP:0200040)2.69999654
46Abnormality of incisor morphology (HP:0011063)2.67461373
47Abnormal foot bone ossification (HP:0010675)2.66586798
48Recurrent corneal erosions (HP:0000495)2.64858461
49Supernumerary spleens (HP:0009799)2.61673329
50Septo-optic dysplasia (HP:0100842)2.61349773
51Xanthomatosis (HP:0000991)2.60635724
52Aplasia/Hypoplasia of the fovea (HP:0008060)2.59516424
53Hypoplasia of the fovea (HP:0007750)2.59516424
54Febrile seizures (HP:0002373)2.56362131
55Chorioretinal atrophy (HP:0000533)2.54989815
56Hypoalphalipoproteinemia (HP:0003233)2.54576489
57White forelock (HP:0002211)2.51136217
58Hypoplasia of the capital femoral epiphysis (HP:0003090)2.49653667
59Periauricular skin pits (HP:0100277)2.48864989
60Hemorrhage of the eye (HP:0011885)2.42113474
61Bell-shaped thorax (HP:0001591)2.41406339
62Abnormality of the wing of the ilium (HP:0011867)2.39039812
63Conical tooth (HP:0000698)2.36561157
64Limited elbow extension (HP:0001377)2.35746246
65Enlarged kidneys (HP:0000105)2.35477788
66Patchy hypopigmentation of hair (HP:0011365)2.34347392
67Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.32658102
68Vitreoretinal degeneration (HP:0000655)2.31853810
69Duplicated collecting system (HP:0000081)2.31533159
70Spontaneous abortion (HP:0005268)2.31404738
71Increased corneal curvature (HP:0100692)2.30143253
72Keratoconus (HP:0000563)2.30143253
73Abnormality of the lumbar spine (HP:0100712)2.28656884
74Nasolacrimal duct obstruction (HP:0000579)2.28296930
75Transposition of the great arteries (HP:0001669)2.26435258
76Abnormal connection of the cardiac segments (HP:0011545)2.26435258
77Abnormal ventriculo-arterial connection (HP:0011563)2.26435258
78Duplication of thumb phalanx (HP:0009942)2.26155886
79Absent rod-and cone-mediated responses on ERG (HP:0007688)2.24767326
80Rectovaginal fistula (HP:0000143)2.24138163
81Rectal fistula (HP:0100590)2.24138163
82Cutaneous finger syndactyly (HP:0010554)2.23078069
83Anomalous pulmonary venous return (HP:0010772)2.21393742
84Abnormal ciliary motility (HP:0012262)2.19126132
85Abnormality of the nasolacrimal system (HP:0000614)2.18730792
86Hyperglycinuria (HP:0003108)2.18206223
87Prostate neoplasm (HP:0100787)2.18022525
88Myelomeningocele (HP:0002475)2.17555600
89Follicular hyperkeratosis (HP:0007502)2.16636096
90Bifid tongue (HP:0010297)2.16206940
91Abnormality of the lacrimal duct (HP:0011481)2.15753938
92Abnormality of the parietal bone (HP:0002696)2.15019793
93Gonadal dysgenesis (HP:0000133)2.14199867
94Xerostomia (HP:0000217)2.12092586
95Abnormality of complement system (HP:0005339)2.11368061
96Fragile skin (HP:0001030)2.10031989
97Abnormality of the pancreatic islet cells (HP:0006476)2.09662824
98Abnormality of endocrine pancreas physiology (HP:0012093)2.09662824
99Absent epiphyses (HP:0010577)2.09641723
100Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.09641723
101Absent eyebrow (HP:0002223)2.09174907
102Intestinal fistula (HP:0100819)2.09128634
103Atelectasis (HP:0100750)2.07987693
104Diastasis recti (HP:0001540)2.07785065
105Renal agenesis (HP:0000104)2.06686704
106Severe Myopia (HP:0011003)2.03808215
107Abnormality of the pulmonary veins (HP:0011718)2.03752922
108Menorrhagia (HP:0000132)2.03552890
109Abnormal umbilical cord blood vessels (HP:0011403)2.03264741
110Single umbilical artery (HP:0001195)2.03264741
111Abnormality of the fetal cardiovascular system (HP:0010948)2.03264741
112Asymmetry of the thorax (HP:0001555)2.03061796
113Abnormal sex determination (HP:0012244)2.02839865
114Sex reversal (HP:0012245)2.02839865
115Increased serum pyruvate (HP:0003542)2.02758000
116Abnormality of the acetabulum (HP:0003170)2.01784793
117Humeroradial synostosis (HP:0003041)2.01429842
118Synostosis involving the elbow (HP:0003938)2.01429842
119Alacrima (HP:0000522)2.01291123
120Abolished electroretinogram (ERG) (HP:0000550)2.01030311
121Mesomelia (HP:0003027)2.00678909
122Embryonal renal neoplasm (HP:0011794)2.00557108
123Popliteal pterygium (HP:0009756)2.00225658
124Pigmentary retinal degeneration (HP:0001146)1.99901965
125Abnormal pancreas size (HP:0012094)1.98958169
126Attenuation of retinal blood vessels (HP:0007843)1.98293430
127Alopecia of scalp (HP:0002293)1.97062381
128Agammaglobulinemia (HP:0004432)1.96221271
129True hermaphroditism (HP:0010459)1.95424279
130Optic nerve hypoplasia (HP:0000609)1.94964948
131Cutaneous syndactyly (HP:0012725)1.94559765
132Abnormality of the parathyroid morphology (HP:0011766)1.93830875
133Cheilitis (HP:0100825)1.93123405
134Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.92503952
135Abnormality of calcium-phosphate metabolism (HP:0100530)1.90963745
136Potter facies (HP:0002009)1.89646702
137Facial shape deformation (HP:0011334)1.89646702
138Onycholysis (HP:0001806)1.89608050
139Nephronophthisis (HP:0000090)1.89571550
140Bifid scrotum (HP:0000048)1.89497117
141Hydroxyprolinuria (HP:0003080)1.88536003
142Abnormality of proline metabolism (HP:0010907)1.88536003
143Right ventricular cardiomyopathy (HP:0011663)1.88319562
144Muscle fiber inclusion bodies (HP:0100299)1.87739035
145Exercise-induced muscle cramps (HP:0003710)1.87623436
146Meckel diverticulum (HP:0002245)1.86532902
147Abnormality of the renal medulla (HP:0100957)1.86425525
148Cupped ribs (HP:0000887)1.86249562
149Abnormality of the ileum (HP:0001549)1.84048434
150Abnormality of the intervertebral disk (HP:0005108)1.83368279
151Peritonitis (HP:0002586)1.83004106
152Atrophic scars (HP:0001075)1.81964556
153Arthropathy (HP:0003040)1.80983554
154Abnormality of the fovea (HP:0000493)1.80689200
155Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.80635901
156Increased nuchal translucency (HP:0010880)1.80195001
157Abnormal rod and cone electroretinograms (HP:0008323)1.80077317
158Neonatal short-limb short stature (HP:0008921)1.79989775
159Pulmonary artery stenosis (HP:0004415)1.79962674
160Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.79601003
161Partial duplication of thumb phalanx (HP:0009944)1.79584934
162Double outlet right ventricle (HP:0001719)1.79578183
163Congenital malformation of the right heart (HP:0011723)1.79578183
164Hyperglycinemia (HP:0002154)1.79342243
165Abnormality of glycolysis (HP:0004366)1.79188072
166Short humerus (HP:0005792)1.79017586
167Absent radius (HP:0003974)1.78915927
168Abnormality of pain sensation (HP:0010832)1.78665177
169Impaired pain sensation (HP:0007328)1.78665177
170Abnormality of the preputium (HP:0100587)1.77927568
171Absent eyelashes (HP:0000561)1.77904165
172Anophthalmia (HP:0000528)1.76722987
173Nemaline bodies (HP:0003798)1.76356293
174Chronic hepatic failure (HP:0100626)1.76283043
175Nephroblastoma (Wilms tumor) (HP:0002667)1.75868136
176Abnormality of the aortic arch (HP:0012303)1.75600090
177Abnormality of aromatic amino acid family metabolism (HP:0004338)1.75352026
178Abnormal respiratory motile cilium physiology (HP:0012261)1.74839136
179Conjugated hyperbilirubinemia (HP:0002908)1.74385222
180Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.73739966
181Ectopic kidney (HP:0000086)1.73670677
182Abnormal respiratory epithelium morphology (HP:0012253)1.73654469
183Abnormal respiratory motile cilium morphology (HP:0005938)1.73654469
184Hyperthyroidism (HP:0000836)1.73341469
185Partial duplication of the phalanx of hand (HP:0009999)1.71353222
186Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.69424009
187Midline defect of the nose (HP:0004122)1.69040509
188Oligodactyly (HP:0012165)1.67771020
189Aplasia involving bones of the extremities (HP:0009825)1.67504566
190Aplasia involving bones of the upper limbs (HP:0009823)1.67504566
191Aplasia of the phalanges of the hand (HP:0009802)1.67504566
192Exotropia (HP:0000577)1.66994304
193Abnormality of the right ventricle (HP:0001707)1.63463317
194Abnormality of DNA repair (HP:0003254)1.63444091
195Preauricular pit (HP:0004467)1.63117412

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK4.69140781
2FGFR44.02757416
3PLK43.52152767
4SIK33.38940298
5FGFR33.24051127
6DDR23.00827936
7ICK2.78806176
8WNK42.76133755
9TNIK2.69927628
10NEK12.66806611
11OBSCN2.56297838
12EPHA32.49882029
13EPHB22.35570380
14CDK122.33541027
15INSRR2.33378383
16BMPR1B2.31569940
17GRK12.26283959
18LATS12.20313343
19STK162.11607254
20NUAK12.10580456
21SIK12.05903601
22SIK21.99238725
23IRAK31.95378330
24FGFR11.91144689
25TYRO31.88047499
26BRSK21.80457380
27EIF2AK21.78598578
28ZAK1.78103335
29NEK21.78052250
30IRAK21.77918096
31ACVR1B1.73907117
32LATS21.72828839
33PDGFRA1.72075261
34MAP3K141.69141220
35WEE11.68572039
36ERBB41.65667476
37MAP2K71.63725438
38AKT31.57678725
39IRAK11.54842481
40BLK1.54802062
41STK38L1.50159453
42EEF2K1.49619875
43ADRBK21.48196869
44CDK81.41551704
45PBK1.41327176
46MKNK21.39223158
47TTK1.38454061
48PRPF4B1.37270523
49YES11.36890995
50NTRK31.29554092
51IRAK41.25514943
52MAPKAPK31.18826015
53MAP3K101.17672454
54MAPK131.17138877
55MAP3K41.14726525
56CDK31.13016776
57RET1.11057562
58NEK61.10038205
59PKN11.10023019
60PIK3CA1.08868125
61MAP3K91.08699165
62LMTK21.04053891
63NEK91.00687111
64NLK0.99310589
65PIK3CG0.96328754
66MELK0.96159148
67PRKCE0.96147066
68DYRK1B0.93990617
69PLK30.93768842
70MKNK10.93747553
71BRAF0.93445384
72FRK0.92028985
73PNCK0.91914699
74MAPK150.91470691
75PKN20.86080582
76EIF2AK30.86067303
77RIPK10.85832615
78WNK10.83713888
79PINK10.82683598
80TXK0.82664447
81BRSK10.82405242
82CDK70.80616177
83BCR0.80552191
84BMPR20.80241157
85ERBB20.79080098
86DMPK0.78700400
87MAP3K130.77362002
88SGK20.75528670
89NME10.74803178
90CLK10.74371265
91TGFBR20.73929383
92PHKG10.72605683
93PHKG20.72605683
94CSNK1A1L0.68169501
95STK30.65867260
96MARK30.63028321
97BRD40.62265460
98CSNK1E0.61899880
99MET0.59670803
100EPHA20.59237234
101SGK30.59100548
102STK240.59089054
103VRK10.58230570
104TEC0.55566304
105STK390.54929874
106EPHA40.54594320
107MAP3K70.53809365
108OXSR10.52632065
109MUSK0.52303705
110MAPK110.51111524
111TNK20.51080509
112FGR0.50905863
113IKBKE0.50289674
114SGK2230.50149149
115SGK4940.50149149
116CDK40.49732200
117FER0.49477135
118CAMK1G0.49076862
119CAMK10.48254889
120PLK20.47651574
121MAPK70.47471221
122DYRK30.47223588
123PLK10.46848764
124NTRK20.46411951
125SGK10.45026366
126PRKAA10.44775356
127PDK20.43739355
128ATM0.42929227
129ERBB30.41618750
130TRIB30.41375922
131CHUK0.40973999
132PRKG10.40887070
133PRKCG0.40661306
134CDK10.39850870
135MAP3K60.39338242
136CSNK1G20.39142250
137HIPK20.38840578
138MARK20.38645849
139CSNK1D0.38413035
140CHEK20.38393741
141SRPK10.38141873
142CAMK1D0.37821312
143TLK10.37569762
144TSSK60.37190905
145RPS6KA50.36627515
146MTOR0.36002594
147STK40.35038701
148TGFBR10.35016017
149PDPK10.34546594
150ATR0.34489896
151FGFR20.33791174
152IKBKB0.33700494
153CAMK2A0.32119659
154ADRBK10.31985476
155CSNK1G10.31452206
156PAK30.31099126
157TAOK30.30734847
158PRKACA0.29681839
159WNK30.29594730
160PRKD20.29349423
161GRK70.28680347
162PRKCQ0.27525599
163RPS6KB10.26654510
164PRKAA20.25086223

Predicted pathways (KEGG)

RankGene SetZ-score
1Complement and coagulation cascades_Homo sapiens_hsa046104.11729097
2Phototransduction_Homo sapiens_hsa047444.03812525
3Fat digestion and absorption_Homo sapiens_hsa049752.97060766
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.90096525
5Fatty acid metabolism_Homo sapiens_hsa012122.55362451
6Fatty acid biosynthesis_Homo sapiens_hsa000612.53501202
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.44332468
8Fatty acid degradation_Homo sapiens_hsa000712.33937457
9Steroid hormone biosynthesis_Homo sapiens_hsa001402.31004630
102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.28150277
11Taste transduction_Homo sapiens_hsa047422.25772520
12Basal cell carcinoma_Homo sapiens_hsa052172.17539519
13Propanoate metabolism_Homo sapiens_hsa006402.16636353
14Nicotine addiction_Homo sapiens_hsa050332.16359252
15Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.13531624
16PPAR signaling pathway_Homo sapiens_hsa033201.92880524
17Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.88568232
18Retinol metabolism_Homo sapiens_hsa008301.86305600
19Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.78257210
20Arginine biosynthesis_Homo sapiens_hsa002201.75558325
21Fanconi anemia pathway_Homo sapiens_hsa034601.70460237
22Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.68944818
23Axon guidance_Homo sapiens_hsa043601.67818210
24Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.67340684
25Autoimmune thyroid disease_Homo sapiens_hsa053201.66708071
26Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.59476557
27Ovarian steroidogenesis_Homo sapiens_hsa049131.57546084
28Starch and sucrose metabolism_Homo sapiens_hsa005001.56499644
29Wnt signaling pathway_Homo sapiens_hsa043101.56477947
30Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.55739095
31Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.53131950
32Sphingolipid metabolism_Homo sapiens_hsa006001.48863430
33Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.48547587
34Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.48510745
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.43529081
36ECM-receptor interaction_Homo sapiens_hsa045121.43475917
37Morphine addiction_Homo sapiens_hsa050321.37192005
38Histidine metabolism_Homo sapiens_hsa003401.34770538
39Protein digestion and absorption_Homo sapiens_hsa049741.32710750
40Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.31454158
41Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.31353251
42Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.29845607
43Pyruvate metabolism_Homo sapiens_hsa006201.27543317
44Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.26691693
45Vitamin digestion and absorption_Homo sapiens_hsa049771.25935662
46Cyanoamino acid metabolism_Homo sapiens_hsa004601.22610509
47Serotonergic synapse_Homo sapiens_hsa047261.20062808
48Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.19322837
49Steroid biosynthesis_Homo sapiens_hsa001001.16596846
50Intestinal immune network for IgA production_Homo sapiens_hsa046721.16119292
51Arachidonic acid metabolism_Homo sapiens_hsa005901.15554127
52Butanoate metabolism_Homo sapiens_hsa006501.14347355
53Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.13698804
54Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.13457216
55Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.13339534
56Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.10856326
57Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.10224924
58Hedgehog signaling pathway_Homo sapiens_hsa043401.08460627
59N-Glycan biosynthesis_Homo sapiens_hsa005101.08288493
60Primary immunodeficiency_Homo sapiens_hsa053401.07819987
61Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.07404767
62Linoleic acid metabolism_Homo sapiens_hsa005911.06740251
63Nitrogen metabolism_Homo sapiens_hsa009101.03999158
64SNARE interactions in vesicular transport_Homo sapiens_hsa041301.03435680
65Graft-versus-host disease_Homo sapiens_hsa053321.02770753
66Bile secretion_Homo sapiens_hsa049761.02335215
67Glutamatergic synapse_Homo sapiens_hsa047241.01975767
68Hippo signaling pathway_Homo sapiens_hsa043901.01788223
69Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.01448291
70Chemical carcinogenesis_Homo sapiens_hsa052040.99448930
71Melanoma_Homo sapiens_hsa052180.99414642
72Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.97763387
73Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.97720959
74Aldosterone synthesis and secretion_Homo sapiens_hsa049250.97015250
75Cocaine addiction_Homo sapiens_hsa050300.95922758
76Biosynthesis of amino acids_Homo sapiens_hsa012300.95069841
77Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.94326662
78Thyroid hormone synthesis_Homo sapiens_hsa049180.94219658
79Melanogenesis_Homo sapiens_hsa049160.94077253
80Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.93876521
81Notch signaling pathway_Homo sapiens_hsa043300.93863958
82Primary bile acid biosynthesis_Homo sapiens_hsa001200.93546182
83Glycosaminoglycan degradation_Homo sapiens_hsa005310.93431326
84Glucagon signaling pathway_Homo sapiens_hsa049220.93377488
85alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.93216853
86Peroxisome_Homo sapiens_hsa041460.92732839
87Insulin secretion_Homo sapiens_hsa049110.92680646
88Maturity onset diabetes of the young_Homo sapiens_hsa049500.92100311
89NF-kappa B signaling pathway_Homo sapiens_hsa040640.89354189
90Circadian entrainment_Homo sapiens_hsa047130.87407216
91Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.86535180
92Calcium signaling pathway_Homo sapiens_hsa040200.86260420
93Renin-angiotensin system_Homo sapiens_hsa046140.85782606
94Ether lipid metabolism_Homo sapiens_hsa005650.83878667
95Glycerolipid metabolism_Homo sapiens_hsa005610.82958189
96Amphetamine addiction_Homo sapiens_hsa050310.80175198
97Olfactory transduction_Homo sapiens_hsa047400.79968931
98Hematopoietic cell lineage_Homo sapiens_hsa046400.79752040
99Vitamin B6 metabolism_Homo sapiens_hsa007500.79057107
100TGF-beta signaling pathway_Homo sapiens_hsa043500.78919076
101Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.78811813
102RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.78217102
103Adherens junction_Homo sapiens_hsa045200.76120095
104Circadian rhythm_Homo sapiens_hsa047100.75987381
105Selenocompound metabolism_Homo sapiens_hsa004500.74742152
106Salivary secretion_Homo sapiens_hsa049700.74627636
107ABC transporters_Homo sapiens_hsa020100.73539230
108Toll-like receptor signaling pathway_Homo sapiens_hsa046200.72899162
109beta-Alanine metabolism_Homo sapiens_hsa004100.72449801
110Lysine degradation_Homo sapiens_hsa003100.72322058
111One carbon pool by folate_Homo sapiens_hsa006700.72054857
112Carbon metabolism_Homo sapiens_hsa012000.71932884
113Fatty acid elongation_Homo sapiens_hsa000620.71180988
114Mineral absorption_Homo sapiens_hsa049780.71076832
115PI3K-Akt signaling pathway_Homo sapiens_hsa041510.68653029
116Allograft rejection_Homo sapiens_hsa053300.68584999
117Non-homologous end-joining_Homo sapiens_hsa034500.67980358
118African trypanosomiasis_Homo sapiens_hsa051430.67615631
119Staphylococcus aureus infection_Homo sapiens_hsa051500.67480356
120Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.66337752
121Ras signaling pathway_Homo sapiens_hsa040140.66336729
122TNF signaling pathway_Homo sapiens_hsa046680.65615770
123Cholinergic synapse_Homo sapiens_hsa047250.65608522
124Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.65587496
125cAMP signaling pathway_Homo sapiens_hsa040240.64123427
126Malaria_Homo sapiens_hsa051440.64104189
127Rheumatoid arthritis_Homo sapiens_hsa053230.60564550
128Arginine and proline metabolism_Homo sapiens_hsa003300.58887100
129Tyrosine metabolism_Homo sapiens_hsa003500.58243046
130Pentose and glucuronate interconversions_Homo sapiens_hsa000400.56601532
131Adipocytokine signaling pathway_Homo sapiens_hsa049200.56592225
132Transcriptional misregulation in cancer_Homo sapiens_hsa052020.56550271
133Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.53738460
134Asthma_Homo sapiens_hsa053100.53331280
135Prostate cancer_Homo sapiens_hsa052150.53055256
136Tryptophan metabolism_Homo sapiens_hsa003800.52172944
137Homologous recombination_Homo sapiens_hsa034400.51831065
138Insulin resistance_Homo sapiens_hsa049310.48777699
139ErbB signaling pathway_Homo sapiens_hsa040120.48430145
140Proteoglycans in cancer_Homo sapiens_hsa052050.47817488
141GABAergic synapse_Homo sapiens_hsa047270.47205958
142AMPK signaling pathway_Homo sapiens_hsa041520.46617430
143Pathways in cancer_Homo sapiens_hsa052000.46335835
144Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.45176924
145Hepatitis C_Homo sapiens_hsa051600.44311249
146Fructose and mannose metabolism_Homo sapiens_hsa000510.43900426
147Phenylalanine metabolism_Homo sapiens_hsa003600.43360744
148Measles_Homo sapiens_hsa051620.42504471
149Vascular smooth muscle contraction_Homo sapiens_hsa042700.41561928
150Renin secretion_Homo sapiens_hsa049240.39888938
151Long-term depression_Homo sapiens_hsa047300.39590828
152mRNA surveillance pathway_Homo sapiens_hsa030150.39438731
153Phosphatidylinositol signaling system_Homo sapiens_hsa040700.39394904
154Insulin signaling pathway_Homo sapiens_hsa049100.38166156
155Drug metabolism - other enzymes_Homo sapiens_hsa009830.36298329
156Thyroid cancer_Homo sapiens_hsa052160.33540300
157Tight junction_Homo sapiens_hsa045300.31294993
158RNA transport_Homo sapiens_hsa030130.30639466
159Metabolic pathways_Homo sapiens_hsa011000.29996536
160Cell cycle_Homo sapiens_hsa041100.28499041
161Central carbon metabolism in cancer_Homo sapiens_hsa052300.27048559
162Glycerophospholipid metabolism_Homo sapiens_hsa005640.26315074
163Other glycan degradation_Homo sapiens_hsa005110.25388765
164Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.24972762
165Non-small cell lung cancer_Homo sapiens_hsa052230.23857219

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