IBTK

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: Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of neurotransmitter secretion (GO:0046929)7.47541879
2negative regulation of neurotransmitter transport (GO:0051589)5.19182303
3positive regulation of amino acid transport (GO:0051957)4.74449310
4positive regulation of catecholamine secretion (GO:0033605)4.55912903
5nuclear pore complex assembly (GO:0051292)4.32874367
6negative regulation of amino acid transport (GO:0051956)4.26202084
7early endosome to late endosome transport (GO:0045022)4.18431608
8nuclear pore organization (GO:0006999)4.09419324
9positive regulation of glycolytic process (GO:0045821)4.07639185
10Golgi transport vesicle coating (GO:0048200)3.96204913
11COPI coating of Golgi vesicle (GO:0048205)3.96204913
12mitotic sister chromatid cohesion (GO:0007064)3.93592854
13mitotic chromosome condensation (GO:0007076)3.93582784
14folic acid-containing compound biosynthetic process (GO:0009396)3.78378815
15protein targeting to Golgi (GO:0000042)3.72350753
16regulation of Rac protein signal transduction (GO:0035020)3.70622470
17establishment of protein localization to Golgi (GO:0072600)3.68872164
18urea cycle (GO:0000050)3.64408234
19urea metabolic process (GO:0019627)3.64408234
20phospholipid scrambling (GO:0017121)3.63678375
21mRNA modification (GO:0016556)3.63043773
22COPII vesicle coating (GO:0048208)3.61555596
23positive regulation of protein autophosphorylation (GO:0031954)3.57763701
24ribosome assembly (GO:0042255)3.57415507
25L-phenylalanine catabolic process (GO:0006559)3.53573698
26erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.53573698
27protein localization to kinetochore (GO:0034501)3.44553184
28erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.43165170
29L-phenylalanine metabolic process (GO:0006558)3.43165170
30regulation of glutamate secretion (GO:0014048)3.42844110
31cellular glucuronidation (GO:0052695)3.38709700
32serotonin receptor signaling pathway (GO:0007210)3.36025609
33glycine metabolic process (GO:0006544)3.34730628
34branched-chain amino acid catabolic process (GO:0009083)3.34154472
35retrograde transport, vesicle recycling within Golgi (GO:0000301)3.28302334
36cysteine metabolic process (GO:0006534)3.23616253
37serine family amino acid catabolic process (GO:0009071)3.21960658
38lysine metabolic process (GO:0006553)3.21845085
39lysine catabolic process (GO:0006554)3.21845085
40protein localization to Golgi apparatus (GO:0034067)3.21761007
41regulation of type B pancreatic cell apoptotic process (GO:2000674)3.21253776
42nitrogen cycle metabolic process (GO:0071941)3.20144599
43maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.19858281
44one-carbon metabolic process (GO:0006730)3.19647478
45negative regulation of fibrinolysis (GO:0051918)3.16383221
46pharyngeal system development (GO:0060037)3.15603530
47aromatic amino acid family catabolic process (GO:0009074)3.13147967
48sulfur amino acid catabolic process (GO:0000098)3.12206589
49regulation of hexokinase activity (GO:1903299)3.11525746
50regulation of glucokinase activity (GO:0033131)3.11525746
51negative regulation of activin receptor signaling pathway (GO:0032926)3.08973109
52cullin deneddylation (GO:0010388)3.08799987
53glucuronate metabolic process (GO:0019585)3.06969214
54uronic acid metabolic process (GO:0006063)3.06969214
55pore complex assembly (GO:0046931)3.06784611
56tetrahydrofolate metabolic process (GO:0046653)3.06555661
57homocysteine metabolic process (GO:0050667)3.05444148
58regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.05340089
59mannose metabolic process (GO:0006013)3.04193431
60smooth muscle tissue development (GO:0048745)3.03602658
61mitotic metaphase plate congression (GO:0007080)3.01638244
62kynurenine metabolic process (GO:0070189)3.01378122
63N-glycan processing (GO:0006491)2.98436705
64phospholipid translocation (GO:0045332)2.98312872
65lipid translocation (GO:0034204)2.98312872
66peptidyl-glutamic acid carboxylation (GO:0017187)2.96665250
67protein carboxylation (GO:0018214)2.96665250
68monoubiquitinated protein deubiquitination (GO:0035520)2.96004511
69protein localization to chromosome, centromeric region (GO:0071459)2.95967388
70interkinetic nuclear migration (GO:0022027)2.95965901
71negative regulation of fatty acid biosynthetic process (GO:0045717)2.95180007
72regulation of protein activation cascade (GO:2000257)2.94445697
73alpha-linolenic acid metabolic process (GO:0036109)2.92592736
74regulation of protein polyubiquitination (GO:1902914)2.91848967
75regulation of RNA export from nucleus (GO:0046831)2.91416985
76regulation of glycolytic process (GO:0006110)2.90675410
77intra-Golgi vesicle-mediated transport (GO:0006891)2.88409010
78mitotic nuclear envelope disassembly (GO:0007077)2.88147859
79valine metabolic process (GO:0006573)2.85497198
80triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.85437065
81negative regulation of sterol transport (GO:0032372)2.85090522
82negative regulation of cholesterol transport (GO:0032375)2.85090522
83regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.84573264
84tryptophan metabolic process (GO:0006568)2.83740860
85histone H2A monoubiquitination (GO:0035518)2.82059176
86protein targeting to vacuole (GO:0006623)2.80738096
87protein targeting to lysosome (GO:0006622)2.80738096
88establishment of protein localization to vacuole (GO:0072666)2.80738096
89regulation of spindle organization (GO:0090224)2.80332922
90sister chromatid segregation (GO:0000819)2.79527321
91pathway-restricted SMAD protein phosphorylation (GO:0060389)2.78930495
92indolalkylamine catabolic process (GO:0046218)2.78453662
93tryptophan catabolic process (GO:0006569)2.78453662
94indole-containing compound catabolic process (GO:0042436)2.78453662
95regulation of fibrinolysis (GO:0051917)2.77099384
96glyoxylate metabolic process (GO:0046487)2.76548482
97UDP-N-acetylglucosamine metabolic process (GO:0006047)2.76108968
98protein retention in ER lumen (GO:0006621)2.75932437
99complement activation, alternative pathway (GO:0006957)2.74869755
100serine family amino acid metabolic process (GO:0009069)2.74703676
101regulation of complement activation (GO:0030449)2.73919982
102regulation of sister chromatid cohesion (GO:0007063)2.73057139
103dosage compensation (GO:0007549)2.72868949
104regulation of cholesterol homeostasis (GO:2000188)2.72525695
105nuclear envelope disassembly (GO:0051081)2.72409490
106membrane disassembly (GO:0030397)2.72409490
107negative regulation of histone methylation (GO:0031061)2.71619271
1082-oxoglutarate metabolic process (GO:0006103)2.68654573
109intracellular lipid transport (GO:0032365)2.67861759
110regulation of membrane lipid distribution (GO:0097035)2.67653478
111folic acid metabolic process (GO:0046655)2.66918946
112regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.65723409
113Golgi to endosome transport (GO:0006895)2.65537534
114activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.65337967
115high-density lipoprotein particle remodeling (GO:0034375)2.64975760
116regulation of centriole replication (GO:0046599)2.63982012
117positive regulation of nuclease activity (GO:0032075)2.63680311
118estrogen metabolic process (GO:0008210)2.63067599
119regulation of energy homeostasis (GO:2000505)2.60634141
120embryonic retina morphogenesis in camera-type eye (GO:0060059)2.60495019
121metaphase plate congression (GO:0051310)2.59989832
122protein K11-linked deubiquitination (GO:0035871)2.59747659
123fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.59402927
124cytoplasmic mRNA processing body assembly (GO:0033962)2.59300474
125bile acid biosynthetic process (GO:0006699)2.58901095
126protein deneddylation (GO:0000338)2.58066829
127regulation of transforming growth factor beta2 production (GO:0032909)2.57765138
128serine family amino acid biosynthetic process (GO:0009070)2.57297735
129transcytosis (GO:0045056)2.56310294
130cell adhesion mediated by integrin (GO:0033627)2.56200681
131positive regulation of muscle hypertrophy (GO:0014742)2.55349249
132positive regulation of cardiac muscle hypertrophy (GO:0010613)2.55349249
133positive regulation of heterotypic cell-cell adhesion (GO:0034116)2.55185523
134negative regulation of organic acid transport (GO:0032891)2.54237020
135righting reflex (GO:0060013)2.54033079
136intestinal cholesterol absorption (GO:0030299)2.53293884
137folic acid-containing compound metabolic process (GO:0006760)2.52181480
138regulation of mitotic spindle organization (GO:0060236)2.51057338
139branched-chain amino acid metabolic process (GO:0009081)2.49124652
140triglyceride homeostasis (GO:0070328)2.48410856
141acylglycerol homeostasis (GO:0055090)2.48410856
142nucleotide transmembrane transport (GO:1901679)2.47559577
143regulation of nuclease activity (GO:0032069)2.46115393
144attachment of spindle microtubules to kinetochore (GO:0008608)2.45205439
145IMP biosynthetic process (GO:0006188)2.45173669
146response to muscle activity (GO:0014850)2.44533304
1474-hydroxyproline metabolic process (GO:0019471)2.44263377
148intestinal epithelial cell development (GO:0060576)2.43904095
149positive regulation of chromosome segregation (GO:0051984)2.43541201
150phenylpropanoid metabolic process (GO:0009698)2.41680720
151positive regulation of fatty acid beta-oxidation (GO:0032000)2.41085126
152endoplasmic reticulum unfolded protein response (GO:0030968)2.40886913
153positive regulation of mitotic sister chromatid separation (GO:1901970)2.40538812
154positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.40538812
155positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.40538812
156protein K48-linked deubiquitination (GO:0071108)2.40429150
157regulation of protein autophosphorylation (GO:0031952)2.40414719
158IMP metabolic process (GO:0046040)2.39866464
159bile acid and bile salt transport (GO:0015721)2.39678842
160regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.39591507
161DNA unwinding involved in DNA replication (GO:0006268)2.38577107
162nucleotide-sugar metabolic process (GO:0009225)2.38321842
163mitotic sister chromatid segregation (GO:0000070)2.38069596
164cellular response to ethanol (GO:0071361)2.37889762
165polyol catabolic process (GO:0046174)2.37657266
166bile acid metabolic process (GO:0008206)2.37589285
167carnitine shuttle (GO:0006853)2.36546420
168alpha-amino acid catabolic process (GO:1901606)2.36275961
169Golgi to plasma membrane protein transport (GO:0043001)2.35896446
170intestinal absorption (GO:0050892)2.35828504
171regulation of triglyceride catabolic process (GO:0010896)2.35818390
172regulation of amino acid transport (GO:0051955)2.35696577
173prostate gland growth (GO:0060736)2.34740974
174nucleotide-sugar biosynthetic process (GO:0009226)2.33467550
175androgen metabolic process (GO:0008209)2.31977056
176lipid particle organization (GO:0034389)2.31385299
177magnesium ion transport (GO:0015693)2.29653908
178very-low-density lipoprotein particle assembly (GO:0034379)2.27897741
179Leydig cell differentiation (GO:0033327)2.26856828
180muscle cell fate commitment (GO:0042693)2.26577340
181regulation of Golgi to plasma membrane protein transport (GO:0042996)2.24870607
182negative regulation of protein activation cascade (GO:2000258)2.24527711
183regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.24327648
184protein N-linked glycosylation via asparagine (GO:0018279)2.23845990
185lysosomal transport (GO:0007041)2.23822121
186peptidyl-asparagine modification (GO:0018196)2.22316978
187ER to Golgi vesicle-mediated transport (GO:0006888)2.21797156
188positive regulation of hormone biosynthetic process (GO:0046886)2.21225992
189regulation of gluconeogenesis (GO:0006111)2.20343165
190protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)2.20273269
191endoplasmic reticulum organization (GO:0007029)2.19869671
192regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.19684137

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.53562277
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.67506925
3FOXM1_23109430_ChIP-Seq_U2OS_Human4.45822360
4RXR_22158963_ChIP-Seq_LIVER_Mouse3.43594657
5PPARA_22158963_ChIP-Seq_LIVER_Mouse3.19973162
6POU3F2_20337985_ChIP-ChIP_501MEL_Human3.09078325
7FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.03682987
8AR_21909140_ChIP-Seq_LNCAP_Human2.83410909
9LXR_22158963_ChIP-Seq_LIVER_Mouse2.78564681
10E2F4_17652178_ChIP-ChIP_JURKAT_Human2.71950108
11FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.71622438
12EGR1_23403033_ChIP-Seq_LIVER_Mouse2.70144112
13CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.68213565
14GBX2_23144817_ChIP-Seq_PC3_Human2.55319686
15IGF1R_20145208_ChIP-Seq_DFB_Human2.47616780
16FLI1_27457419_Chip-Seq_LIVER_Mouse2.46056371
17EGR1_19374776_ChIP-ChIP_THP-1_Human2.44326513
18ZFP57_27257070_Chip-Seq_ESCs_Mouse2.40736510
19FUS_26573619_Chip-Seq_HEK293_Human2.36244757
20* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.33097453
21* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.31306046
22CDX2_19796622_ChIP-Seq_MESCs_Mouse2.30690810
23SMAD_19615063_ChIP-ChIP_OVARY_Human2.22946996
24GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.22562356
25PCGF2_27294783_Chip-Seq_ESCs_Mouse2.22204976
26STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.17787439
27CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.16948424
28AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.16886958
29SALL1_21062744_ChIP-ChIP_HESCs_Human2.09570042
30E2F1_21310950_ChIP-Seq_MCF-7_Human2.05244933
31CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.04527971
32BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.00107727
33SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.96457864
34MYC_22102868_ChIP-Seq_BL_Human1.96429453
35EWS_26573619_Chip-Seq_HEK293_Human1.96182738
36P300_19829295_ChIP-Seq_ESCs_Human1.90006744
37PIAS1_25552417_ChIP-Seq_VCAP_Human1.89241913
38NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.85411588
39NRF2_20460467_ChIP-Seq_MEFs_Mouse1.85411588
40VDR_22108803_ChIP-Seq_LS180_Human1.84495977
41OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.82993926
42SUZ12_27294783_Chip-Seq_NPCs_Mouse1.81321477
43EZH2_27294783_Chip-Seq_NPCs_Mouse1.78502825
44ZNF217_24962896_ChIP-Seq_MCF-7_Human1.77425904
45CLOCK_20551151_ChIP-Seq_293T_Human1.76005943
46MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.75066159
47FOXM1_26456572_ChIP-Seq_MCF-7_Human1.74857975
48NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.73239976
49SMAD4_21799915_ChIP-Seq_A2780_Human1.72500330
50MYC_18555785_ChIP-Seq_MESCs_Mouse1.72347406
51ER_23166858_ChIP-Seq_MCF-7_Human1.69942212
52TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.69467603
53EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.66472150
54PCGF2_27294783_Chip-Seq_NPCs_Mouse1.64888259
55RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.64098836
56NANOG_18555785_Chip-Seq_ESCs_Mouse1.60589221
57CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.59148109
58* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.59039163
59NFE2_27457419_Chip-Seq_LIVER_Mouse1.57424905
60* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.56759143
61ZNF274_21170338_ChIP-Seq_K562_Hela1.55132830
62NELFA_20434984_ChIP-Seq_ESCs_Mouse1.52710921
63PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.52055950
64TAF15_26573619_Chip-Seq_HEK293_Human1.51778257
65PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.51023961
66* PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.50745512
67STAT3_23295773_ChIP-Seq_U87_Human1.50238168
68CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.49866635
69PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.49591771
70* BRD4_25478319_ChIP-Seq_HGPS_Human1.49406429
71FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.48380707
72E2F1_18555785_Chip-Seq_ESCs_Mouse1.48237487
73* CJUN_26792858_Chip-Seq_BT549_Human1.48040286
74KDM5A_27292631_Chip-Seq_BREAST_Human1.47496984
75TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.46922186
76P53_22387025_ChIP-Seq_ESCs_Mouse1.46790770
77EP300_21415370_ChIP-Seq_HL-1_Mouse1.44746313
78SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.44087638
79FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.43344124
80GATA1_22025678_ChIP-Seq_K562_Human1.43012602
81* ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.41441546
82HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.40345353
83SUZ12_18555785_Chip-Seq_ESCs_Mouse1.40160279
84FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.39947200
85GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.38733026
86TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.36985664
87* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.36739927
88TOP2B_26459242_ChIP-Seq_MCF-7_Human1.36646318
89ZNF263_19887448_ChIP-Seq_K562_Human1.36547585
90CMYC_18555785_Chip-Seq_ESCs_Mouse1.35611616
91CRX_20693478_ChIP-Seq_RETINA_Mouse1.34836911
92MYCN_18555785_ChIP-Seq_MESCs_Mouse1.34319685
93TP53_16413492_ChIP-PET_HCT116_Human1.33808148
94GATA6_25053715_ChIP-Seq_YYC3_Human1.32742404
95SMAD3_21741376_ChIP-Seq_EPCs_Human1.32474235
96CDX2_22108803_ChIP-Seq_LS180_Human1.32077035
97TP53_18474530_ChIP-ChIP_U2OS_Human1.31983677
98NR3C1_21868756_ChIP-Seq_MCF10A_Human1.30391643
99TCF4_23295773_ChIP-Seq_U87_Human1.29933996
100EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.29693273
101* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.28194539
102P300_18555785_Chip-Seq_ESCs_Mouse1.27592703
103WT1_19549856_ChIP-ChIP_CCG9911_Human1.27494200
104OCT4_18555785_Chip-Seq_ESCs_Mouse1.27359501
105Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.24827140
106* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.24803235
107SOX2_27498859_Chip-Seq_STOMACH_Mouse1.24219992
108TCF4_18268006_ChIP-ChIP_LS174T_Human1.24184151
109STAT3_18555785_Chip-Seq_ESCs_Mouse1.23585893
110CHD1_26751641_Chip-Seq_LNCaP_Human1.22642257
111FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.22386942
112ZFX_18555785_ChIP-Seq_MESCs_Mouse1.22116952
113AR_25329375_ChIP-Seq_VCAP_Human1.21086240
114MYC_19030024_ChIP-ChIP_MESCs_Mouse1.20896291
115OCT4_21477851_ChIP-Seq_ESCs_Mouse1.20574604
116BCAT_22108803_ChIP-Seq_LS180_Human1.20196535
117SOX2_18555785_Chip-Seq_ESCs_Mouse1.19888540
118FOXA1_26743006_Chip-Seq_LNCaP-abl_Human1.19302891
119STAT3_1855785_ChIP-Seq_MESCs_Mouse1.18235414
120KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.18179507
121NMYC_18555785_Chip-Seq_ESCs_Mouse1.18136062
122PADI4_21655091_ChIP-ChIP_MCF-7_Human1.17123543
123NR3C1_23031785_ChIP-Seq_PC12_Mouse1.15809479
124EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.15770040
125* STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.15609534
126TAL1_26923725_Chip-Seq_HPCs_Mouse1.13949206
127SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.13145917
128ARNT_22903824_ChIP-Seq_MCF-7_Human1.11719055
129TCF4_22108803_ChIP-Seq_LS180_Human1.09133567
130PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.08329698
131FLI1_21867929_ChIP-Seq_TH2_Mouse1.08008605
132KLF4_18555785_ChIP-Seq_MESCs_Mouse1.07151819
133RBPJ_22232070_ChIP-Seq_NCS_Mouse1.07130430
134* CBP_20019798_ChIP-Seq_JUKART_Human1.07087610
135* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.07087610
136NANOG_21062744_ChIP-ChIP_HESCs_Human1.06242907
137TP63_23658742_ChIP-Seq_EP156T_Human1.05808621
138AHR_22903824_ChIP-Seq_MCF-7_Human1.05255190
139ATF3_27146783_Chip-Seq_COLON_Human1.04282681
140TP63_19390658_ChIP-ChIP_HaCaT_Human1.02684740
141FOXA2_19822575_ChIP-Seq_HepG2_Human1.01879105
142GATA4_25053715_ChIP-Seq_YYC3_Human1.01781805
143SALL4_18804426_ChIP-ChIP_XEN_Mouse1.00645705
144ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.98774869
145KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.96082231
146MYC_19079543_ChIP-ChIP_MESCs_Mouse0.96021139
147FOXO3_23340844_ChIP-Seq_DLD1_Human0.95747050
148CIITA_25753668_ChIP-Seq_RAJI_Human0.95277051
149HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.93906150
150BRD4_27068464_Chip-Seq_AML-cells_Mouse0.93561442
151MYB_26560356_Chip-Seq_TH1_Human0.93517027
152CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.93409691
153TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.93073345
154POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.91479140
155ESR1_15608294_ChIP-ChIP_MCF-7_Human0.90982482
156HNF4A_19822575_ChIP-Seq_HepG2_Human0.90448106
157* TCF7_22412390_ChIP-Seq_EML_Mouse0.89864253
158HOXB4_20404135_ChIP-ChIP_EML_Mouse0.89852578
159SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.89620268
160NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.89462819
161* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.89399106
162E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.88657430
163DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.86897559
164CREB1_15753290_ChIP-ChIP_HEK293T_Human0.86803578
165SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.86698402
166CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.86592369
167TFEB_21752829_ChIP-Seq_HELA_Human0.86177122
168SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.85787907
169POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.85547570
170VDR_23849224_ChIP-Seq_CD4+_Human0.85340122
171ELK1_19687146_ChIP-ChIP_HELA_Human0.85222681
172NCOR1_26117541_ChIP-Seq_K562_Human0.84864100
173TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.84544786
174ESR1_20079471_ChIP-ChIP_T-47D_Human0.84285470
175KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.83872950
176CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.83465531
177GABP_19822575_ChIP-Seq_HepG2_Human0.82560343
178PKCTHETA_26484144_Chip-Seq_BREAST_Human0.82298748
179NANOG_18555785_ChIP-Seq_MESCs_Mouse0.81467837
180MYB_21317192_ChIP-Seq_ERMYB_Mouse0.80760979
181ERG_20887958_ChIP-Seq_HPC-7_Mouse0.80498026
182FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.80226373
183GATA2_22383799_ChIP-Seq_G1ME_Mouse0.77963517
184E2F1_18555785_ChIP-Seq_MESCs_Mouse0.77117635
185TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.76887611
186SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.76604024
187TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.76068218
188HIF1A_21447827_ChIP-Seq_MCF-7_Human0.75672854

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system4.57598180
2MP0000569_abnormal_digit_pigmentation3.89048899
3MP0005365_abnormal_bile_salt3.55692010
4MP0009780_abnormal_chondrocyte_physiolo3.54800788
5MP0005360_urolithiasis3.48234780
6MP0005085_abnormal_gallbladder_physiolo3.26087767
7MP0003950_abnormal_plasma_membrane2.69726017
8MP0003705_abnormal_hypodermis_morpholog2.66210217
9MP0003806_abnormal_nucleotide_metabolis2.58227404
10MP0010352_gastrointestinal_tract_polyps2.43452712
11MP0003252_abnormal_bile_duct2.40982526
12MP0008875_abnormal_xenobiotic_pharmacok2.20833862
13MP0003693_abnormal_embryo_hatching2.06328414
14MP0010234_abnormal_vibrissa_follicle2.01396279
15MP0002877_abnormal_melanocyte_morpholog1.92463301
16MP0003868_abnormal_feces_composition1.91728232
17MP0001666_abnormal_nutrient_absorption1.89295607
18MP0004215_abnormal_myocardial_fiber1.80165257
19MP0004264_abnormal_extraembryonic_tissu1.79931374
20MP0003300_gastrointestinal_ulcer1.77905559
21MP0010094_abnormal_chromosome_stability1.77189304
22MP0005084_abnormal_gallbladder_morpholo1.74029697
23MP0004957_abnormal_blastocyst_morpholog1.73659637
24MP0008438_abnormal_cutaneous_collagen1.70650494
25MP0010678_abnormal_skin_adnexa1.69355094
26MP0005083_abnormal_biliary_tract1.67552838
27MP0000372_irregular_coat_pigmentation1.66644745
28MP0003111_abnormal_nucleus_morphology1.66415692
29MP0005379_endocrine/exocrine_gland_phen1.65773167
30MP0005076_abnormal_cell_differentiation1.64895488
31MP0003077_abnormal_cell_cycle1.64218855
32MP0010329_abnormal_lipoprotein_level1.61325573
33MP0002837_dystrophic_cardiac_calcinosis1.57778916
34MP0002138_abnormal_hepatobiliary_system1.53090142
35MP0003195_calcinosis1.52655427
36MP0000609_abnormal_liver_physiology1.52261986
37MP0005220_abnormal_exocrine_pancreas1.49711609
38MP0002876_abnormal_thyroid_physiology1.45440129
39MP0010307_abnormal_tumor_latency1.42515975
40MP0004084_abnormal_cardiac_muscle1.42003547
41MP0001730_embryonic_growth_arrest1.41406315
42MP0003656_abnormal_erythrocyte_physiolo1.40630640
43MP0008057_abnormal_DNA_replication1.39415994
44MP0004185_abnormal_adipocyte_glucose1.38646677
45MP0000013_abnormal_adipose_tissue1.38509651
46MP0002396_abnormal_hematopoietic_system1.31686669
47MP0004782_abnormal_surfactant_physiolog1.27895451
48MP0002163_abnormal_gland_morphology1.27136943
49MP0004484_altered_response_of1.23696882
50MP0006054_spinal_hemorrhage1.23580848
51MP0005380_embryogenesis_phenotype1.22522102
52MP0001672_abnormal_embryogenesis/_devel1.22522102
53MP0003011_delayed_dark_adaptation1.21255360
54MP0003890_abnormal_embryonic-extraembry1.20602970
55MP0000427_abnormal_hair_cycle1.20096060
56MP0002909_abnormal_adrenal_gland1.19899247
57MP0000350_abnormal_cell_proliferation1.19560397
58MP0003183_abnormal_peptide_metabolism1.18357198
59MP0002088_abnormal_embryonic_growth/wei1.17787718
60MP0003984_embryonic_growth_retardation1.17745790
61MP0002166_altered_tumor_susceptibility1.16517134
62MP0009053_abnormal_anal_canal1.16324048
63MP0006072_abnormal_retinal_apoptosis1.15426822
64MP0002086_abnormal_extraembryonic_tissu1.14507550
65MP0003646_muscle_fatigue1.13734443
66MP0004272_abnormal_basement_membrane1.13529898
67MP0009672_abnormal_birth_weight1.13210663
68MP0002234_abnormal_pharynx_morphology1.12674329
69MP0003941_abnormal_skin_development1.11404196
70MP0004197_abnormal_fetal_growth/weight/1.11148024
71MP0005408_hypopigmentation1.11075593
72MP0000749_muscle_degeneration1.09875308
73MP0004134_abnormal_chest_morphology1.09492498
74MP0005451_abnormal_body_composition1.09406277
75MP0004036_abnormal_muscle_relaxation1.09096063
76MP0009840_abnormal_foam_cell1.08386578
77MP0002938_white_spotting1.07987696
78MP0000598_abnormal_liver_morphology1.07742679
79MP0001697_abnormal_embryo_size1.07222284
80MP0002102_abnormal_ear_morphology1.05507657
81MP0002090_abnormal_vision1.02665218
82MP0005187_abnormal_penis_morphology1.02494744
83MP0005647_abnormal_sex_gland1.02094598
84MP0005248_abnormal_Harderian_gland1.01269367
85MP0000383_abnormal_hair_follicle1.00430504
86MP0003283_abnormal_digestive_organ1.00428909
87MP0002084_abnormal_developmental_patter1.00404444
88MP0002971_abnormal_brown_adipose0.98755767
89MP0002928_abnormal_bile_duct0.98291251
90MP0005253_abnormal_eye_physiology0.97784496
91MP0005666_abnormal_adipose_tissue0.97056694
92MP0002160_abnormal_reproductive_system0.96163927
93MP0001661_extended_life_span0.95895693
94MP0003718_maternal_effect0.95279019
95MP0005332_abnormal_amino_acid0.94777245
96MP0010386_abnormal_urinary_bladder0.94639224
97MP0005319_abnormal_enzyme/_coenzyme0.94374937
98MP0002108_abnormal_muscle_morphology0.93624325
99MP0008007_abnormal_cellular_replicative0.92577105
100MP0008775_abnormal_heart_ventricle0.92217346
101MP0004043_abnormal_pH_regulation0.91392715
102MP0002254_reproductive_system_inflammat0.90292923
103MP0002118_abnormal_lipid_homeostasis0.89725862
104MP0003566_abnormal_cell_adhesion0.89476879
105MP0002085_abnormal_embryonic_tissue0.88793648
106MP0002080_prenatal_lethality0.87486467
107MP0009697_abnormal_copulation0.87266667
108MP0000462_abnormal_digestive_system0.86309807
109MP0000490_abnormal_crypts_of0.86210279
110MP0002822_catalepsy0.85841331
111MP0005023_abnormal_wound_healing0.85569360
112MP0009643_abnormal_urine_homeostasis0.84999021
113MP0002019_abnormal_tumor_incidence0.84736205
114MP0009703_decreased_birth_body0.83364811
115MP0003567_abnormal_fetal_cardiomyocyte0.81905470
116MP0008058_abnormal_DNA_repair0.79793723
117MP0001944_abnormal_pancreas_morphology0.79581493
118MP0000516_abnormal_urinary_system0.79550310
119MP0005367_renal/urinary_system_phenotyp0.79550310
120MP0000537_abnormal_urethra_morphology0.78931991
121MP0003935_abnormal_craniofacial_develop0.78578494
122MP0005275_abnormal_skin_tensile0.78350526
123MP0003123_paternal_imprinting0.78284089
124MP0001915_intracranial_hemorrhage0.78142643
125MP0002009_preneoplasia0.78105463
126MP0004808_abnormal_hematopoietic_stem0.76541081
127MP0005395_other_phenotype0.76263002
128MP0002006_tumorigenesis0.75688931
129MP0009384_cardiac_valve_regurgitation0.75277731
130MP0003943_abnormal_hepatobiliary_system0.73222540
131MP0004924_abnormal_behavior0.73215844
132MP0005386_behavior/neurological_phenoty0.73215844
133MP0009250_abnormal_appendicular_skeleto0.72612625
134MP0004233_abnormal_muscle_weight0.72121575
135MP0002168_other_aberrant_phenotype0.70886878
136MP0002332_abnormal_exercise_endurance0.70178557
137MP0000371_diluted_coat_color0.69570192
138MP0000733_abnormal_muscle_development0.67564958
139MP0001764_abnormal_homeostasis0.66947384
140MP0001191_abnormal_skin_condition0.66708724
141MP0002115_abnormal_skeleton_extremities0.66690033
142MP0005389_reproductive_system_phenotype0.66200151
143MP0003937_abnormal_limbs/digits/tail_de0.66175850
144MP0003755_abnormal_palate_morphology0.65749104
145MP0001529_abnormal_vocalization0.64897400
146MP0002269_muscular_atrophy0.64199682
147MP0002060_abnormal_skin_morphology0.63866981
148MP0002896_abnormal_bone_mineralization0.63635431
149MP0003091_abnormal_cell_migration0.63570664
150MP0000477_abnormal_intestine_morphology0.63552379
151MP0000613_abnormal_salivary_gland0.62744026
152MP0002693_abnormal_pancreas_physiology0.62171301
153MP0003699_abnormal_female_reproductive0.61962492
154MP0003221_abnormal_cardiomyocyte_apopto0.61861454
155MP0003121_genomic_imprinting0.61528923
156MP0004087_abnormal_muscle_fiber0.61395611
157MP0002233_abnormal_nose_morphology0.61318624
158MP0001119_abnormal_female_reproductive0.61025232
159MP0005375_adipose_tissue_phenotype0.60108906
160MP0001849_ear_inflammation0.59486025
161MP0002638_abnormal_pupillary_reflex0.58094986
162MP0002078_abnormal_glucose_homeostasis0.57507185
163MP0003191_abnormal_cellular_cholesterol0.57495916
164MP0008961_abnormal_basal_metabolism0.55939242
165MP0005397_hematopoietic_system_phenotyp0.55889157

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)4.26354594
2Intrahepatic cholestasis (HP:0001406)4.23313973
3Abnormality of monocarboxylic acid metabolism (HP:0010996)3.92040632
4Hypochromic microcytic anemia (HP:0004840)3.89638579
5Hypobetalipoproteinemia (HP:0003563)3.37489279
6Nemaline bodies (HP:0003798)3.34338595
7Thyroid carcinoma (HP:0002890)3.33616688
8Abnormality of the common coagulation pathway (HP:0010990)3.24225772
9Calf muscle hypertrophy (HP:0008981)3.22493786
10Abnormality of aromatic amino acid family metabolism (HP:0004338)3.19055397
11Muscle fiber inclusion bodies (HP:0100299)3.12384799
12Hypoglycemic coma (HP:0001325)3.10976612
13Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.08556055
14Abnormality of the intrinsic pathway (HP:0010989)3.08157388
15Xanthomatosis (HP:0000991)3.00894273
16Muscle hypertrophy of the lower extremities (HP:0008968)2.95323388
17Abnormality of sulfur amino acid metabolism (HP:0004339)2.86766843
18Hyperglycemia (HP:0003074)2.85048154
19Papillary thyroid carcinoma (HP:0002895)2.80666695
20Hypolipoproteinemia (HP:0010981)2.79191839
21Epidermoid cyst (HP:0200040)2.76863990
22Proximal tubulopathy (HP:0000114)2.76652315
23Fair hair (HP:0002286)2.71423715
24Renal cortical cysts (HP:0000803)2.70844105
25Hepatocellular carcinoma (HP:0001402)2.68887035
26Cardiovascular calcification (HP:0011915)2.61605862
27Hypoalphalipoproteinemia (HP:0003233)2.60292061
28Prolonged partial thromboplastin time (HP:0003645)2.56337324
29Volvulus (HP:0002580)2.55079413
30Curly hair (HP:0002212)2.52527276
31Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.47720349
32Short 1st metacarpal (HP:0010034)2.47720349
33Fat malabsorption (HP:0002630)2.44683819
34Vascular calcification (HP:0004934)2.43395416
35Hypothermia (HP:0002045)2.42196563
36Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.41101497
37Acanthocytosis (HP:0001927)2.40822928
38Pheochromocytoma (HP:0002666)2.39538398
39Chorioretinal atrophy (HP:0000533)2.38698937
40Abnormal foot bone ossification (HP:0010675)2.35722252
41Myocardial infarction (HP:0001658)2.34365708
42Metaphyseal dysplasia (HP:0100255)2.34035549
43Abnormality of methionine metabolism (HP:0010901)2.32177824
44Abnormality of the fingertips (HP:0001211)2.30952145
45Hyperammonemia (HP:0001987)2.30317431
46Biliary tract neoplasm (HP:0100574)2.28976147
47Complement deficiency (HP:0004431)2.28851294
48Poikilocytosis (HP:0004447)2.26743503
49Abnormality of endocrine pancreas physiology (HP:0012093)2.26147207
50Abnormality of the pancreatic islet cells (HP:0006476)2.26147207
51Hamartoma of the eye (HP:0010568)2.25361921
52Vertebral arch anomaly (HP:0008438)2.24173748
53Subacute progressive viral hepatitis (HP:0006572)2.20427484
54Abnormality of aspartate family amino acid metabolism (HP:0010899)2.19768194
55Cortical dysplasia (HP:0002539)2.18979496
56Hypoglycemic seizures (HP:0002173)2.16500140
57Ketosis (HP:0001946)2.16419830
58Widely spaced teeth (HP:0000687)2.16308310
59Back pain (HP:0003418)2.15375996
60Esophageal varix (HP:0002040)2.13554352
61Sandal gap (HP:0001852)2.13120167
62Abnormality of pyrimidine metabolism (HP:0004353)2.11658858
63Abnormality of the 1st metacarpal (HP:0010009)2.11598367
64Hypoplastic ischia (HP:0003175)2.09401448
65Abnormal biliary tract morphology (HP:0012440)2.06776269
66Hyperglycinemia (HP:0002154)2.06525047
67Cystic hygroma (HP:0000476)2.04386857
68Absent frontal sinuses (HP:0002688)2.00129393
69Abnormality of the calf musculature (HP:0001430)1.99748904
70Mitral stenosis (HP:0001718)1.99320173
71Thickened calvaria (HP:0002684)1.99157886
72Exercise-induced muscle cramps (HP:0003710)1.97461399
73Generalized hypopigmentation of hair (HP:0011358)1.97237178
74Spastic diplegia (HP:0001264)1.96592502
75Abnormality of nucleobase metabolism (HP:0010932)1.95475116
76Colon cancer (HP:0003003)1.95182475
77Arterial tortuosity (HP:0005116)1.93214619
78Hyperbilirubinemia (HP:0002904)1.92452123
79Abnormality of the renal cortex (HP:0011035)1.92295645
80Microglossia (HP:0000171)1.92152016
81Abnormality of the ischium (HP:0003174)1.91645233
82Hyperinsulinemic hypoglycemia (HP:0000825)1.91036886
83Pancreatic islet-cell hyperplasia (HP:0004510)1.90712479
84Neuroendocrine neoplasm (HP:0100634)1.89219144
85Abnormality of purine metabolism (HP:0004352)1.87383245
86Hyperlipoproteinemia (HP:0010980)1.87263001
87Long clavicles (HP:0000890)1.85801293
88Abnormal cartilage morphology (HP:0002763)1.85408138
89Limb hypertonia (HP:0002509)1.84915216
90Hyperglycinuria (HP:0003108)1.84619732
91Abnormality of the hip-girdle musculature (HP:0001445)1.84469430
92Abnormality of the musculature of the pelvis (HP:0001469)1.84469430
93Abnormality of vitamin B metabolism (HP:0004340)1.84376641
94Joint hemorrhage (HP:0005261)1.84052857
95Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.83124273
96Type 1 muscle fiber predominance (HP:0003803)1.81196476
97Cupped ribs (HP:0000887)1.79336064
98Enlarged penis (HP:0000040)1.79246877
99Abnormality of glutamine family amino acid metabolism (HP:0010902)1.77283607
100Insulin-resistant diabetes mellitus (HP:0000831)1.76687128
101Metaphyseal cupping (HP:0003021)1.76669720
102Hyperventilation (HP:0002883)1.75330682
103Abnormality of glycine metabolism (HP:0010895)1.74845077
104Abnormality of serine family amino acid metabolism (HP:0010894)1.74845077
105Hypoplastic nipples (HP:0002557)1.73549157
106Hypochromic anemia (HP:0001931)1.73208918
107Meningioma (HP:0002858)1.73068138
108Abnormality of the renal collecting system (HP:0004742)1.72124350
109Increased mean platelet volume (HP:0011877)1.72107778
110Vascular tortuosity (HP:0004948)1.71399640
111Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.71220819
112Aortic dissection (HP:0002647)1.70740695
113Popliteal pterygium (HP:0009756)1.70586784
114Facial hemangioma (HP:0000329)1.70484725
115Flat acetabular roof (HP:0003180)1.70271536
116Rimmed vacuoles (HP:0003805)1.70030621
117Protuberant abdomen (HP:0001538)1.69845368
118Distal arthrogryposis (HP:0005684)1.69808931
119Abnormality of vitamin metabolism (HP:0100508)1.69390813
120Tetraparesis (HP:0002273)1.69328057
121Hypoplastic labia majora (HP:0000059)1.68450661
122Striae distensae (HP:0001065)1.68303665
123Aplasia/Hypoplasia of the scapulae (HP:0006713)1.68160779
124Hypoplastic scapulae (HP:0000882)1.68160779
125Abnormality of the labia majora (HP:0012881)1.67611383
126Ketoacidosis (HP:0001993)1.67430817
127Short chin (HP:0000331)1.67165134
128Abnormality of complement system (HP:0005339)1.66540624
129Insulin resistance (HP:0000855)1.66437839
130Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.66100929
131Neoplasm of the small intestine (HP:0100833)1.66082756
132Right ventricular cardiomyopathy (HP:0011663)1.65596866
133Ulnar deviation of the wrist (HP:0003049)1.65553881
134Aneurysm (HP:0002617)1.64009287
135Abnormal tarsal ossification (HP:0008369)1.63868188
136Cholelithiasis (HP:0001081)1.63746468
137Azoospermia (HP:0000027)1.63701775
138Gastrointestinal carcinoma (HP:0002672)1.63464271
139Malignant gastrointestinal tract tumors (HP:0006749)1.63464271
140Abnormality of lateral ventricle (HP:0030047)1.62762154
141Shoulder girdle muscle weakness (HP:0003547)1.62731953
142Deviation of the thumb (HP:0009603)1.62719350
143Skin nodule (HP:0200036)1.62395749
144Abnormal gallbladder morphology (HP:0012437)1.62380896
145Rhabdomyosarcoma (HP:0002859)1.62220905
146Abnormality of the proximal phalanges of the hand (HP:0009834)1.61820738
147Neoplasm of the peripheral nervous system (HP:0100007)1.61564225
148Methylmalonic acidemia (HP:0002912)1.61215414
149Macroorchidism (HP:0000053)1.61000952
150Steatorrhea (HP:0002570)1.60709417
151Abnormality of transition element cation homeostasis (HP:0011030)1.60312921
152Palpitations (HP:0001962)1.60046638
153Short 4th metacarpal (HP:0010044)1.59582074
154Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.59582074
155Abnormality of serum amino acid levels (HP:0003112)1.59531665
156Spontaneous abortion (HP:0005268)1.59116056
157Sensorimotor neuropathy (HP:0007141)1.58347787
158Conjugated hyperbilirubinemia (HP:0002908)1.57724516
159Absent phalangeal crease (HP:0006109)1.57656647
160Gout (HP:0001997)1.57620673
161Abnormality of the astrocytes (HP:0100707)1.57509583
162Astrocytoma (HP:0009592)1.57509583
163Neoplasm of the thyroid gland (HP:0100031)1.57135151
164Ependymoma (HP:0002888)1.56587235
165Delayed puberty (HP:0000823)1.55752322
166Late onset (HP:0003584)1.55691356
167Acute myeloid leukemia (HP:0004808)1.55671916
168Glioma (HP:0009733)1.55345205
169Disproportionate short-trunk short stature (HP:0003521)1.55128669
170Hepatoblastoma (HP:0002884)1.54847311
171Cubitus valgus (HP:0002967)1.53209510

Predicted kinase interactions (KEA)

RankGene SetZ-score
1LATS14.41754380
2CDK122.95970378
3TAOK32.78299912
4PKN22.75435898
5EEF2K2.71090821
6TRIM282.59671271
7CDC72.58322990
8TRIB32.31102575
9ERBB32.24206395
10NEK22.21072870
11FRK2.18244228
12STK32.04122542
13MAP4K21.99588901
14NLK1.79934452
15ERN11.69314270
16TTN1.66802642
17STK101.65426564
18BCKDK1.65017945
19STK38L1.64189079
20RPS6KB21.61931345
21EIF2AK21.59634312
22ACVR1B1.59555901
23STK391.57601795
24TTK1.57061694
25FGFR41.55572191
26FLT31.54417844
27NEK91.52974424
28BMPR1B1.46387281
29SIK11.46228060
30MST41.42887352
31TSSK61.41573402
32MELK1.40323102
33PTK61.40316002
34PASK1.34624739
35SGK21.33288385
36ERBB41.32485091
37MAP3K101.30261434
38CDK61.28879537
39CDK41.27977740
40BRSK21.24436256
41PNCK1.22638932
42AURKB1.22199992
43MAP3K121.20713009
44TNIK1.17027127
45BCR1.16335341
46NUAK11.16041004
47TGFBR21.15157804
48CDK91.14251639
49MAP3K41.14004358
50SCYL21.13926421
51MAP3K81.13229287
52PLK41.13006509
53PHKG21.12711732
54PHKG11.12711732
55WNK31.12194893
56RPS6KA41.11778641
57BRD41.10647154
58MAPKAPK31.08772761
59MTOR1.06304216
60MAP3K61.02446593
61CASK1.01095797
62MST1R1.00998508
63PINK11.00472530
64MKNK20.99470321
65FER0.98550030
66FGFR30.94368820
67STK40.94275637
68EIF2AK10.93838192
69EPHA20.93832200
70LATS20.89100644
71WNK40.88850844
72JAK30.88348234
73WEE10.88348144
74CDK70.86932730
75CAMKK20.86668213
76TRPM70.85385378
77INSRR0.84264424
78PDGFRA0.84119934
79TGFBR10.82637974
80ATM0.82271039
81PIK3CA0.81964122
82PLK10.81469937
83ATR0.81445650
84CHEK10.81422755
85LRRK20.80801876
86TAF10.78695319
87MAPK110.78534836
88PRKCE0.77691572
89PLK30.77663507
90NEK10.76594864
91CDK30.76199153
92PLK20.75333450
93CAMK1D0.75179244
94PIK3CG0.74928148
95MAP2K30.74519439
96CHEK20.74461287
97FGFR10.73021612
98MET0.72128495
99EIF2AK30.71801020
100AKT30.71235576
101MAP3K30.69578619
102TYK20.68179885
103PRKAA10.68019618
104PIM10.67524549
105ICK0.66963581
106JAK20.65852515
107SRPK10.63529115
108FGFR20.63219081
109DYRK30.63217579
110MKNK10.61289687
111GRK10.59173267
112MAP3K140.58817470
113PBK0.56879644
114RIPK10.56690086
115YES10.56333455
116HIPK20.55957955
117PAK30.55528560
118EPHA30.55410533
119DMPK0.54414718
120CDK20.53664738
121PDGFRB0.51602685
122NME20.50868094
123JAK10.50789613
124PRKAA20.49088513
125STK240.48731629
126CSF1R0.46701751
127CSNK1G10.46574486
128ITK0.46508304
129MAP4K10.46036823
130SGK2230.45815032
131SGK4940.45815032
132CHUK0.44841131
133STK380.44442532
134DYRK1B0.43400802
135MAP3K20.42753912
136CAMK1G0.42223425
137RPS6KB10.42016454
138OBSCN0.41665480
139CDK10.39153489
140ALK0.38468299
141CSK0.37833373
142CSNK1D0.37703101
143SGK30.37570147
144MAPK130.37462128
145ADRBK20.35476619
146PDK20.33000187
147ABL10.32208361
148MAP2K70.30501649
149MARK10.30415055
150CCNB10.28948966
151WNK10.28332104
152CLK10.27247997
153AKT20.26970080
154MUSK0.26393901
155DDR20.25578280
156EGFR0.25179400

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001202.78925314
2Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.59953733
3Nitrogen metabolism_Homo sapiens_hsa009102.49194240
4One carbon pool by folate_Homo sapiens_hsa006702.27473246
5Arginine biosynthesis_Homo sapiens_hsa002202.25429377
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.22168197
7Selenocompound metabolism_Homo sapiens_hsa004502.18397140
8Maturity onset diabetes of the young_Homo sapiens_hsa049502.10187053
9Sulfur metabolism_Homo sapiens_hsa009202.09516295
10Steroid biosynthesis_Homo sapiens_hsa001002.03344541
11Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.96302638
12Tryptophan metabolism_Homo sapiens_hsa003801.94845032
13Fatty acid degradation_Homo sapiens_hsa000711.91792471
14Lysine degradation_Homo sapiens_hsa003101.83285542
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.82856571
16Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.81576370
17Complement and coagulation cascades_Homo sapiens_hsa046101.77969949
18Circadian rhythm_Homo sapiens_hsa047101.71811786
19Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.63525137
20Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.62725493
21Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.48313862
22Fatty acid biosynthesis_Homo sapiens_hsa000611.48076014
23Cell cycle_Homo sapiens_hsa041101.42817670
24Drug metabolism - other enzymes_Homo sapiens_hsa009831.39326623
25Cysteine and methionine metabolism_Homo sapiens_hsa002701.37831217
26Pentose and glucuronate interconversions_Homo sapiens_hsa000401.37756143
27Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.35880527
28Folate biosynthesis_Homo sapiens_hsa007901.33236657
29Caffeine metabolism_Homo sapiens_hsa002321.31076514
30Butanoate metabolism_Homo sapiens_hsa006501.29434989
31Biosynthesis of amino acids_Homo sapiens_hsa012301.24949778
32Vitamin B6 metabolism_Homo sapiens_hsa007501.24882477
33Propanoate metabolism_Homo sapiens_hsa006401.24059339
342-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.19310854
35Starch and sucrose metabolism_Homo sapiens_hsa005001.16393110
36Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.16048593
37Fat digestion and absorption_Homo sapiens_hsa049751.15755626
38Sphingolipid metabolism_Homo sapiens_hsa006001.13266564
39DNA replication_Homo sapiens_hsa030301.11829210
40RNA transport_Homo sapiens_hsa030131.08056106
41Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.06149721
42PPAR signaling pathway_Homo sapiens_hsa033201.04888856
43Fatty acid metabolism_Homo sapiens_hsa012121.02964487
44Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.01166696
45Peroxisome_Homo sapiens_hsa041460.99369318
46beta-Alanine metabolism_Homo sapiens_hsa004100.98907210
47Carbon metabolism_Homo sapiens_hsa012000.97694319
48Ether lipid metabolism_Homo sapiens_hsa005650.95596703
49Sulfur relay system_Homo sapiens_hsa041220.94903203
50Insulin resistance_Homo sapiens_hsa049310.94794943
51Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.94572298
52Basal transcription factors_Homo sapiens_hsa030220.94490169
53ABC transporters_Homo sapiens_hsa020100.93334344
54Systemic lupus erythematosus_Homo sapiens_hsa053220.91332588
55Non-homologous end-joining_Homo sapiens_hsa034500.90484101
56Histidine metabolism_Homo sapiens_hsa003400.88524199
57Base excision repair_Homo sapiens_hsa034100.86992483
58Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.86958532
59Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.84570930
60Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.83824709
61Chemical carcinogenesis_Homo sapiens_hsa052040.83668114
62Glucagon signaling pathway_Homo sapiens_hsa049220.83076435
63Pyruvate metabolism_Homo sapiens_hsa006200.81863350
64Pentose phosphate pathway_Homo sapiens_hsa000300.80861626
65p53 signaling pathway_Homo sapiens_hsa041150.79231245
66Staphylococcus aureus infection_Homo sapiens_hsa051500.78827552
67Mismatch repair_Homo sapiens_hsa034300.76637489
68mRNA surveillance pathway_Homo sapiens_hsa030150.73929508
69Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.73865820
70MicroRNAs in cancer_Homo sapiens_hsa052060.73804884
71Small cell lung cancer_Homo sapiens_hsa052220.73448772
72Steroid hormone biosynthesis_Homo sapiens_hsa001400.72364154
73Retinol metabolism_Homo sapiens_hsa008300.72159700
74Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.70957732
75Arginine and proline metabolism_Homo sapiens_hsa003300.69900395
76Linoleic acid metabolism_Homo sapiens_hsa005910.67338934
77RNA degradation_Homo sapiens_hsa030180.66606551
78Viral carcinogenesis_Homo sapiens_hsa052030.65338227
79Regulation of autophagy_Homo sapiens_hsa041400.65319314
80Bile secretion_Homo sapiens_hsa049760.65211641
81Chronic myeloid leukemia_Homo sapiens_hsa052200.64091564
82Mineral absorption_Homo sapiens_hsa049780.63148307
83Protein export_Homo sapiens_hsa030600.63115441
84Nucleotide excision repair_Homo sapiens_hsa034200.62897735
85Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.62784280
86Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.62353055
87Adherens junction_Homo sapiens_hsa045200.62113717
88Renin-angiotensin system_Homo sapiens_hsa046140.61712059
89AMPK signaling pathway_Homo sapiens_hsa041520.61624374
90Prostate cancer_Homo sapiens_hsa052150.61419904
91Phenylalanine metabolism_Homo sapiens_hsa003600.60596713
92Renin secretion_Homo sapiens_hsa049240.59880602
93Pancreatic cancer_Homo sapiens_hsa052120.59703918
94mTOR signaling pathway_Homo sapiens_hsa041500.59311952
95Thyroid cancer_Homo sapiens_hsa052160.58269915
96Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.57013925
97Fatty acid elongation_Homo sapiens_hsa000620.56996243
98Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.56783148
99Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.56740360
100Endometrial cancer_Homo sapiens_hsa052130.53963229
101TGF-beta signaling pathway_Homo sapiens_hsa043500.52908962
102Thyroid hormone synthesis_Homo sapiens_hsa049180.52541015
103Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.52101542
104alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.51576260
105Tyrosine metabolism_Homo sapiens_hsa003500.51264911
106FoxO signaling pathway_Homo sapiens_hsa040680.50967184
107Prolactin signaling pathway_Homo sapiens_hsa049170.50835382
108Bladder cancer_Homo sapiens_hsa052190.49835685
109ECM-receptor interaction_Homo sapiens_hsa045120.49339686
110Proteoglycans in cancer_Homo sapiens_hsa052050.48453150
111Herpes simplex infection_Homo sapiens_hsa051680.48135045
112Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.48054473
113Dorso-ventral axis formation_Homo sapiens_hsa043200.47893428
114Vitamin digestion and absorption_Homo sapiens_hsa049770.47735707
115Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.47620884
116Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.47257664
117Fanconi anemia pathway_Homo sapiens_hsa034600.47172080
118Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.46358346
119Pancreatic secretion_Homo sapiens_hsa049720.45860859
120Non-small cell lung cancer_Homo sapiens_hsa052230.44611100
121Glycerolipid metabolism_Homo sapiens_hsa005610.43361940
122N-Glycan biosynthesis_Homo sapiens_hsa005100.43054668
123Protein digestion and absorption_Homo sapiens_hsa049740.42438648
124Galactose metabolism_Homo sapiens_hsa000520.41575372
125Insulin signaling pathway_Homo sapiens_hsa049100.39898555
126Melanoma_Homo sapiens_hsa052180.39228668
127Ovarian steroidogenesis_Homo sapiens_hsa049130.38658670
128Tight junction_Homo sapiens_hsa045300.37222820
129Focal adhesion_Homo sapiens_hsa045100.36783662
130Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.36072355
131Serotonergic synapse_Homo sapiens_hsa047260.35968199
132Insulin secretion_Homo sapiens_hsa049110.35799208
133Legionellosis_Homo sapiens_hsa051340.35793833
134Inositol phosphate metabolism_Homo sapiens_hsa005620.35734665
135Hippo signaling pathway_Homo sapiens_hsa043900.35733693
136Dilated cardiomyopathy_Homo sapiens_hsa054140.35646975
137Hedgehog signaling pathway_Homo sapiens_hsa043400.32207303

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