BDKRB2

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





Description: This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. Alternate start codons result in two isoforms of the protein. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1aminoglycoside antibiotic metabolic process (GO:0030647)7.92961111
2somite rostral/caudal axis specification (GO:0032525)7.13498547
3maintenance of protein location in nucleus (GO:0051457)6.99435982
4regulation of mammary gland epithelial cell proliferation (GO:0033599)6.91973712
5negative regulation of epidermis development (GO:0045683)6.55408092
6negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)6.33241120
7muscle organ morphogenesis (GO:0048644)6.29375421
8type B pancreatic cell proliferation (GO:0044342)6.13482142
9negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)5.93345008
10regulation of MHC class I biosynthetic process (GO:0045343)5.86288745
11protein localization to kinetochore (GO:0034501)5.74154341
12negative regulation of cell cycle G2/M phase transition (GO:1902750)5.67710949
13cytidine metabolic process (GO:0046087)5.66623839
14cytidine catabolic process (GO:0006216)5.66623839
15cytidine deamination (GO:0009972)5.66623839
16protein heterotrimerization (GO:0070208)5.65624501
17histone H4-K8 acetylation (GO:0043982)5.41080547
18histone H4-K5 acetylation (GO:0043981)5.41080547
19hormone catabolic process (GO:0042447)5.32674665
20regulation of nuclear cell cycle DNA replication (GO:0033262)5.31619291
21regulation of telomere maintenance via telomerase (GO:0032210)5.31278620
22phenol-containing compound catabolic process (GO:0019336)5.29718915
23histone H4-K12 acetylation (GO:0043983)5.28040773
24negative regulation of telomerase activity (GO:0051974)5.27739633
25rRNA transcription (GO:0009303)5.22902887
26notochord development (GO:0030903)5.17296859
27mesenchymal-epithelial cell signaling (GO:0060638)5.13680241
28coenzyme catabolic process (GO:0009109)4.92093521
29negative regulation of epidermal cell differentiation (GO:0045605)4.90306631
30regulation of cilium movement (GO:0003352)4.87710996
31extracellular matrix assembly (GO:0085029)4.84921149
32skin morphogenesis (GO:0043589)4.84882481
33heterochromatin organization (GO:0070828)4.84736557
34response to dietary excess (GO:0002021)4.78065567
35lung vasculature development (GO:0060426)4.73438909
36branching involved in mammary gland duct morphogenesis (GO:0060444)4.67303782
37interferon-gamma production (GO:0032609)4.59418085
38mitotic sister chromatid segregation (GO:0000070)4.56031537
39endodermal cell differentiation (GO:0035987)4.55773790
40sequestering of extracellular ligand from receptor (GO:0035581)4.51589501
41nucleoside transmembrane transport (GO:1901642)4.51082979
42regulation of apoptotic process involved in morphogenesis (GO:1902337)4.50856111
43rRNA methylation (GO:0031167)4.47053513
44primitive streak formation (GO:0090009)4.40683934
45adhesion of symbiont to host cell (GO:0044650)4.40410623
46virion attachment to host cell (GO:0019062)4.40410623
47quinone metabolic process (GO:1901661)4.40011290
48epoxygenase P450 pathway (GO:0019373)4.22900206
49chondrocyte proliferation (GO:0035988)4.20709676
50positive regulation of DNA-dependent DNA replication (GO:2000105)4.16429449
51cell migration involved in heart development (GO:0060973)4.11595086
52collagen fibril organization (GO:0030199)4.11244623
53bone trabecula formation (GO:0060346)4.10761753
54pyrimidine ribonucleoside catabolic process (GO:0046133)4.08861319
55peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)4.08712503
56chromatin assembly (GO:0031497)4.08550018
57negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.06434803
58maintenance of protein localization in organelle (GO:0072595)4.05640552
59protein localization to chromosome, centromeric region (GO:0071459)4.03797767
60cellular modified amino acid catabolic process (GO:0042219)4.01875351
61histone H4-K16 acetylation (GO:0043984)3.99571680
62proline transport (GO:0015824)3.98158650
63kidney mesenchyme development (GO:0072074)3.96195442
64regulation of odontogenesis of dentin-containing tooth (GO:0042487)3.95373924
65blood vessel maturation (GO:0001955)3.92589237
66rRNA modification (GO:0000154)3.92044439
67regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.91528832
68tachykinin receptor signaling pathway (GO:0007217)3.91481246
69negative regulation of smooth muscle cell migration (GO:0014912)3.85857966
70metanephric mesenchyme development (GO:0072075)3.85145634
71regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.80458252
72ventricular system development (GO:0021591)3.79118453
73vitamin A metabolic process (GO:0006776)3.77633584
74sister chromatid segregation (GO:0000819)3.76998942
75regulation of translation in response to stress (GO:0043555)3.74556138
76adhesion of symbiont to host (GO:0044406)3.74481589
77mitochondrion distribution (GO:0048311)3.74118803
78hemidesmosome assembly (GO:0031581)3.73432628
79positive regulation of protein deacetylation (GO:0090312)3.73324499
80cellular response to vitamin (GO:0071295)3.72993090
81DNA replication-dependent nucleosome organization (GO:0034723)3.72641912
82DNA replication-dependent nucleosome assembly (GO:0006335)3.72641912
83negative regulation of telomere maintenance (GO:0032205)3.72479852
84cardiovascular system development (GO:0072358)3.67784718
85nuclear pore complex assembly (GO:0051292)3.67077433
86intestinal epithelial cell development (GO:0060576)3.63870367
87extracellular fibril organization (GO:0043206)3.63447191
88collagen metabolic process (GO:0032963)3.63109156
89microtubule severing (GO:0051013)3.61955647
90endocardial cushion development (GO:0003197)3.61869789
91intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)3.61247810
92respiratory tube development (GO:0030323)3.56683754
93omega-hydroxylase P450 pathway (GO:0097267)3.56359689
94intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)3.56003554
95regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.54026749
96collagen catabolic process (GO:0030574)3.53441895
97cell fate commitment involved in formation of primary germ layer (GO:0060795)3.53287359
98cell adhesion mediated by integrin (GO:0033627)3.50477442
99multicellular organismal macromolecule metabolic process (GO:0044259)3.48269446
100retinoic acid receptor signaling pathway (GO:0048384)3.48171574
101lung lobe morphogenesis (GO:0060463)3.48082294
102negative regulation of interleukin-2 production (GO:0032703)3.47345845
103positive regulation of endothelial cell apoptotic process (GO:2000353)3.45423883
104positive regulation of histone deacetylation (GO:0031065)3.44453328
105regulation of intracellular estrogen receptor signaling pathway (GO:0033146)3.43683071
106dermatan sulfate biosynthetic process (GO:0030208)3.43518114
107transepithelial transport (GO:0070633)3.41931401
108nucleoside transport (GO:0015858)3.40703614
109regulation of extracellular matrix disassembly (GO:0010715)3.40112661
110dermatan sulfate metabolic process (GO:0030205)3.39129710
111hypotonic response (GO:0006971)3.38705189
112trophectodermal cell differentiation (GO:0001829)3.38169783
113multicellular organismal catabolic process (GO:0044243)3.37988231
114DNA replication checkpoint (GO:0000076)3.36129969
115multicellular organismal metabolic process (GO:0044236)3.33120444
116fibril organization (GO:0097435)3.30380291
117regulation of telomerase activity (GO:0051972)3.29924036
118planar cell polarity pathway involved in neural tube closure (GO:0090179)3.28721473
119thyroid hormone generation (GO:0006590)3.27451377
120extracellular matrix disassembly (GO:0022617)3.27259729
121maternal placenta development (GO:0001893)3.26723690
122protein polyglutamylation (GO:0018095)3.26494387
123vascular endothelial growth factor signaling pathway (GO:0038084)3.26444393
124mesenchymal cell differentiation involved in kidney development (GO:0072161)3.24691563
125mesenchymal cell differentiation involved in renal system development (GO:2001012)3.24691563
126detection of temperature stimulus (GO:0016048)3.24345507
127signal transduction involved in regulation of gene expression (GO:0023019)3.23981585
128positive regulation of astrocyte differentiation (GO:0048711)3.23888853
129pre-miRNA processing (GO:0031054)3.23263670
130negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)3.23035744
131mRNA stabilization (GO:0048255)3.20824460
132RNA stabilization (GO:0043489)3.20824460
133establishment of endothelial barrier (GO:0061028)3.20376174
134pericardium development (GO:0060039)3.17784625
135cellular response to vitamin D (GO:0071305)3.17389202
136cofactor transport (GO:0051181)3.16314441
137GDP-mannose metabolic process (GO:0019673)3.12687851
138regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)3.12084028
139regulation of microtubule-based movement (GO:0060632)3.10429109
140anterior/posterior axis specification (GO:0009948)3.08824691
141mesodermal cell differentiation (GO:0048333)3.08743483
142regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.08541358
143regulation of glucose import in response to insulin stimulus (GO:2001273)3.08449577
144muscle cell migration (GO:0014812)3.07326696
145transcription from mitochondrial promoter (GO:0006390)3.06782585
146negative regulation of potassium ion transmembrane transport (GO:1901380)3.05626496
147protein retention in ER lumen (GO:0006621)3.04440336
148nuclear pore organization (GO:0006999)3.03905832
149cell migration involved in gastrulation (GO:0042074)3.03231874
150tooth mineralization (GO:0034505)3.02913129
151polarized epithelial cell differentiation (GO:0030859)3.00801448
152regulation of smooth muscle cell migration (GO:0014910)3.00504449
153COPI coating of Golgi vesicle (GO:0048205)3.00372378
154Golgi transport vesicle coating (GO:0048200)3.00372378
155maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.98370496
156cell-substrate junction assembly (GO:0007044)2.97746424
157barbed-end actin filament capping (GO:0051016)2.96642213
158hyaluronan catabolic process (GO:0030214)2.95096320
159keratan sulfate catabolic process (GO:0042340)2.93604946
160establishment of apical/basal cell polarity (GO:0035089)2.92742994
161positive regulation of extracellular matrix organization (GO:1903055)2.88624324
162heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.85897106
163embryo implantation (GO:0007566)2.85163797
164desmosome organization (GO:0002934)2.84874336
165extracellular matrix organization (GO:0030198)2.84146475
166negative regulation of osteoblast proliferation (GO:0033689)2.83978835
167extracellular structure organization (GO:0043062)2.83023748
168basement membrane organization (GO:0071711)2.82144742
169smooth muscle tissue development (GO:0048745)2.78308889
170protein localization to cell surface (GO:0034394)2.76872874
171substrate-dependent cell migration (GO:0006929)2.76663172
172apoptotic cell clearance (GO:0043277)2.74525320
173positive regulation of blood vessel endothelial cell migration (GO:0043536)2.72529766
174regulation of collagen metabolic process (GO:0010712)2.71156001
175wound healing (GO:0042060)2.70432401
176extracellular regulation of signal transduction (GO:1900115)2.69537563
177extracellular negative regulation of signal transduction (GO:1900116)2.69537563
178cell differentiation involved in metanephros development (GO:0072202)2.69125300
179glomerular basement membrane development (GO:0032836)2.68342941
180positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.68316554
181peptidyl-proline hydroxylation (GO:0019511)2.68116525
182chondroitin sulfate catabolic process (GO:0030207)2.65783153
183negative regulation of chondrocyte differentiation (GO:0032331)2.65774454
184chondroitin sulfate biosynthetic process (GO:0030206)2.62886296
185midgut development (GO:0007494)2.61631951
186positive regulation of Rho protein signal transduction (GO:0035025)2.60690911
187negative regulation of fatty acid transport (GO:2000192)2.57796640
188negative regulation of leukocyte chemotaxis (GO:0002689)2.57652036
189protein localization to endosome (GO:0036010)2.52631346
190protein hydroxylation (GO:0018126)2.52311407
191establishment of planar polarity (GO:0001736)2.51210910
192establishment of tissue polarity (GO:0007164)2.51210910
193cellular response to amino acid stimulus (GO:0071230)2.49058395
194mammary gland epithelial cell proliferation (GO:0033598)2.47897416
195daunorubicin metabolic process (GO:0044597)12.2054333
196polyketide metabolic process (GO:0030638)12.2054333
197doxorubicin metabolic process (GO:0044598)12.2054333

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.73765791
2KLF2_18264089_ChIP-ChIP_MESCs_Mouse6.81081375
3KLF5_18264089_ChIP-ChIP_MESCs_Mouse6.81081375
4KLF4_18264089_ChIP-ChIP_MESCs_Mouse6.81081375
5RARG_19884340_ChIP-ChIP_MEFs_Mouse4.66137477
6TRIM28_21343339_ChIP-Seq_HEK293_Human4.13247220
7* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.01785625
8NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.91413400
9NACC1_18358816_ChIP-ChIP_MESCs_Mouse3.33978605
10* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human3.21215651
11TP63_19390658_ChIP-ChIP_HaCaT_Human3.19661622
12SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.99992462
13SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.81649481
14POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.81309081
15SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.77175551
16E2F7_22180533_ChIP-Seq_HELA_Human2.65205578
17TCF3_18692474_ChIP-Seq_MESCs_Mouse2.60653154
18TCF3_18692474_ChIP-Seq_MEFs_Mouse2.52773683
19NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.50264060
20ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.33905335
21SMAD_19615063_ChIP-ChIP_OVARY_Human2.28075765
22CLOCK_20551151_ChIP-Seq_293T_Human2.27198629
23CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.25867340
24TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.25209952
25* CJUN_26792858_Chip-Seq_BT549_Human2.19944620
26BRD4_25478319_ChIP-Seq_HGPS_Human2.16408458
27NANOG_18347094_ChIP-ChIP_MESCs_Mouse2.13764561
28ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.13729181
29RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.06437417
30NANOG_18358816_ChIP-ChIP_MESCs_Mouse2.05997969
31TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.05460048
32HIF1A_21447827_ChIP-Seq_MCF-7_Human2.03789585
33SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.91258148
34NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.89814602
35ESR1_21235772_ChIP-Seq_MCF-7_Human1.89408670
36THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.88874288
37KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.84864978
38NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.84825863
39CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.83246425
40IRF1_19129219_ChIP-ChIP_H3396_Human1.78156909
41STAT3_1855785_ChIP-Seq_MESCs_Mouse1.77407878
42WT1_19549856_ChIP-ChIP_CCG9911_Human1.76420663
43ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.75288496
44TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.71549264
45CDX2_20551321_ChIP-Seq_CACO-2_Human1.70790341
46EED_16625203_ChIP-ChIP_MESCs_Mouse1.70745028
47PPAR_26484153_Chip-Seq_NCI-H1993_Human1.70646069
48EP300_21415370_ChIP-Seq_HL-1_Mouse1.70573281
49TP53_18474530_ChIP-ChIP_U2OS_Human1.70284408
50POU5F1_16518401_ChIP-PET_MESCs_Mouse1.64867964
51E2F4_17652178_ChIP-ChIP_JURKAT_Human1.64055282
52SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.61713367
53SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.61713367
54ZFP281_18757296_ChIP-ChIP_E14_Mouse1.60148726
55ZNF217_24962896_ChIP-Seq_MCF-7_Human1.58374757
56SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.58287744
57SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.56139107
58JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.55221704
59POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.54065148
60KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.53693340
61ZFP281_27345836_Chip-Seq_ESCs_Mouse1.50934358
62SMC1_22415368_ChIP-Seq_MEFs_Mouse1.49665537
63* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.49513307
64P300_27058665_Chip-Seq_ZR-75-30cells_Human1.49192036
65TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.48835224
66NANOG_18692474_ChIP-Seq_MESCs_Mouse1.48542861
67NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.47410017
68NRF2_20460467_ChIP-Seq_MEFs_Mouse1.47410017
69* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.47319184
70* PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.45658322
71GATA2_21666600_ChIP-Seq_HMVEC_Human1.45365783
72UBF1/2_26484160_Chip-Seq_HMECs_Human1.44930879
73NANOG_18692474_ChIP-Seq_MEFs_Mouse1.44131122
74JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.41922705
75E2F1_17053090_ChIP-ChIP_MCF-7_Human1.39536682
76SOX2_20726797_ChIP-Seq_SW620_Human1.39509299
77SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.39259187
78NFIB_24661679_ChIP-Seq_LUNG_Mouse1.38048268
79POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.38039082
80TP53_16413492_ChIP-PET_HCT116_Human1.37556213
81UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.35461405
82EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.35388226
83SOX9_24532713_ChIP-Seq_HFSC_Mouse1.30846718
84* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.30004819
85OCT4_18692474_ChIP-Seq_MEFs_Mouse1.28349775
86SMC3_22415368_ChIP-Seq_MEFs_Mouse1.27399174
87SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.25368538
88NANOG_18555785_ChIP-Seq_MESCs_Mouse1.24561318
89KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.24257265
90RNF2_18974828_ChIP-Seq_MESCs_Mouse1.23429549
91EZH2_18974828_ChIP-Seq_MESCs_Mouse1.23429549
92SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.23126700
93SOX2_18555785_ChIP-Seq_MESCs_Mouse1.22385846
94ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.21989891
95SOX2_18692474_ChIP-Seq_MESCs_Mouse1.21846539
96SA1_22415368_ChIP-Seq_MEFs_Mouse1.19267639
97TP53_22127205_ChIP-Seq_IMR90_Human1.18964331
98NANOG_16518401_ChIP-PET_MESCs_Mouse1.18398038
99STAT6_21828071_ChIP-Seq_BEAS2B_Human1.17556912
100FOXM1_23109430_ChIP-Seq_U2OS_Human1.15527520
101KDM2B_26808549_Chip-Seq_SUP-B15_Human1.15321767
102FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.15313379
103ZNF263_19887448_ChIP-Seq_K562_Human1.14387582
104MTF2_20144788_ChIP-Seq_MESCs_Mouse1.13968430
105* TBX20_22328084_ChIP-Seq_HEART_Mouse1.12394332
106* TBX20_22080862_ChIP-Seq_HEART_Mouse1.12394332
107AHR_22903824_ChIP-Seq_MCF-7_Human1.11960262
108TP53_23651856_ChIP-Seq_MEFs_Mouse1.10197603
109CDX2_19796622_ChIP-Seq_MESCs_Mouse1.10010197
110SOX2_18692474_ChIP-Seq_MEFs_Mouse1.09772036
111MYC_22102868_ChIP-Seq_BL_Human1.08619496
112ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.08265418
113JARID2_20075857_ChIP-Seq_MESCs_Mouse1.08041452
114TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.07196513
115FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.05697005
116SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.05144745
117NANOG_16153702_ChIP-ChIP_HESCs_Human1.04931860
118NCOR1_26117541_ChIP-Seq_K562_Human1.04882643
119NOTCH1_21737748_ChIP-Seq_TLL_Human1.04620723
120ATF3_27146783_Chip-Seq_COLON_Human1.03486725
121PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.03136504
122YY1_21170310_ChIP-Seq_MESCs_Mouse1.03104056
123TCF7_22412390_ChIP-Seq_EML_Mouse1.02789752
124WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.01326549
125EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.99921062
126POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.98729481
127KDM2B_26808549_Chip-Seq_K562_Human0.98677422
128Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.98273505
129MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.97737965
130ESR1_20079471_ChIP-ChIP_T-47D_Human0.97598644
131* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.97282816
132RXR_22158963_ChIP-Seq_LIVER_Mouse0.97234784
133NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.96757397
134RAD21_21589869_ChIP-Seq_MESCs_Mouse0.94802210
135ELK3_25401928_ChIP-Seq_HUVEC_Human0.94648129
136RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.94627608
137NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.94296164
138SALL4_18804426_ChIP-ChIP_XEN_Mouse0.92933000
139* TET1_21490601_ChIP-Seq_MESCs_Mouse0.92792711
140ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.92660846
141ARNT_22903824_ChIP-Seq_MCF-7_Human0.92240099
142STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.91769552
143WT1_25993318_ChIP-Seq_PODOCYTE_Human0.90924658
144SOX2_27498859_Chip-Seq_STOMACH_Mouse0.90780130
145POU5F1_16153702_ChIP-ChIP_HESCs_Human0.90739691
146* TP63_23658742_ChIP-Seq_EP156T_Human0.89668301
147SMC4_20622854_ChIP-Seq_HELA_Human0.89149199
148TP53_20018659_ChIP-ChIP_R1E_Mouse0.88446521
149RACK7_27058665_Chip-Seq_MCF-7_Human0.88109315
150MYC_19079543_ChIP-ChIP_MESCs_Mouse0.87967944
151POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.87603652
152ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.86891274
153* TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.86317230
154RING1B_27294783_Chip-Seq_NPCs_Mouse0.85540004
155PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.85230204
156IKZF1_21737484_ChIP-ChIP_HCT116_Human0.85169984
157* FOXO3_23340844_ChIP-Seq_DLD1_Human0.83519721
158CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.83459584
159NANOG_21062744_ChIP-ChIP_HESCs_Human0.83392750
160LXR_22292898_ChIP-Seq_THP-1_Human0.83015114
161MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.81878847
162SCL_19346495_ChIP-Seq_HPC-7_Human0.80385181
163STAT3_18555785_ChIP-Seq_MESCs_Mouse0.79400982
164* TBX3_20139965_ChIP-Seq_ESCs_Mouse0.79347678
165* TBX3_20139965_ChIP-Seq_MESCs_Mouse0.78351137
166CTCF_21964334_Chip-Seq_Bcells_Human0.77442062
167TP63_17297297_ChIP-ChIP_HaCaT_Human0.77002127
168KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.76688957
169MYC_19030024_ChIP-ChIP_MESCs_Mouse0.76613682
170RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.74736811
171SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.73907395
172ELF1_20517297_ChIP-Seq_JURKAT_Human0.72818642
173KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.72326935
174MYC_18555785_ChIP-Seq_MESCs_Mouse0.69504190
175* RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.69436556
176RNF2_27304074_Chip-Seq_NSC_Mouse0.68034160
177* ESR2_21235772_ChIP-Seq_MCF-7_Human0.67178869
178SOX3_22085726_ChIP-Seq_NPCs_Mouse0.67162785
179YY1_22570637_ChIP-Seq_MALME-3M_Human0.66551455
180CSB_26484114_Chip-Seq_FIBROBLAST_Human0.65983385
181ELK4_26923725_Chip-Seq_MESODERM_Mouse0.63515422
182SPI1_26923725_Chip-Seq_HPCs_Mouse0.63367468
183P68_20966046_ChIP-Seq_HELA_Human0.62306563

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen8.04271316
2MP0005275_abnormal_skin_tensile5.13546293
3MP0005503_abnormal_tendon_morphology5.04625488
4MP0002254_reproductive_system_inflammat4.54334463
5MP0003011_delayed_dark_adaptation4.54236145
6MP0004264_abnormal_extraembryonic_tissu4.38464416
7MP0006292_abnormal_olfactory_placode4.06294006
8MP0004858_abnormal_nervous_system3.74397049
9MP0001958_emphysema3.71474994
10MP0005394_taste/olfaction_phenotype3.69699722
11MP0005499_abnormal_olfactory_system3.69699722
12MP0003279_aneurysm3.50530456
13MP0003890_abnormal_embryonic-extraembry3.50056981
14MP0003122_maternal_imprinting3.23064596
15MP0006054_spinal_hemorrhage3.11227058
16MP0002332_abnormal_exercise_endurance3.05668615
17MP0005075_abnormal_melanosome_morpholog2.91470538
18MP0005257_abnormal_intraocular_pressure2.84122811
19MP0001542_abnormal_bone_strength2.75009991
20MP0003705_abnormal_hypodermis_morpholog2.74909114
21MP0010352_gastrointestinal_tract_polyps2.49083347
22MP0000678_abnormal_parathyroid_gland2.45473358
23MP0008057_abnormal_DNA_replication2.38332236
24MP0009780_abnormal_chondrocyte_physiolo2.31574865
25MP0002653_abnormal_ependyma_morphology2.31016436
26MP0003566_abnormal_cell_adhesion2.29336949
27MP0009384_cardiac_valve_regurgitation2.20064301
28MP0003121_genomic_imprinting2.14899174
29MP0004957_abnormal_blastocyst_morpholog2.12051820
30MP0006035_abnormal_mitochondrial_morpho2.10972566
31MP0002060_abnormal_skin_morphology2.10617313
32MP0010030_abnormal_orbit_morphology1.99078615
33MP0002277_abnormal_respiratory_mucosa1.93376140
34MP0002295_abnormal_pulmonary_circulatio1.89731686
35MP0003183_abnormal_peptide_metabolism1.89134507
36MP0008961_abnormal_basal_metabolism1.88223780
37MP0003091_abnormal_cell_migration1.78695605
38MP0002108_abnormal_muscle_morphology1.78598419
39MP0000762_abnormal_tongue_morphology1.78411977
40MP0003938_abnormal_ear_development1.76611794
41MP0001348_abnormal_lacrimal_gland1.74100651
42MP0002932_abnormal_joint_morphology1.71912660
43MP0006082_CNS_inflammation1.69730390
44MP0005380_embryogenesis_phenotype1.65066239
45MP0001672_abnormal_embryogenesis/_devel1.65066239
46MP0000751_myopathy1.64682452
47MP0003941_abnormal_skin_development1.64362711
48MP0002896_abnormal_bone_mineralization1.64163818
49MP0002127_abnormal_cardiovascular_syste1.61281248
50MP0000049_abnormal_middle_ear1.61239427
51MP0000767_abnormal_smooth_muscle1.60460521
52MP0001849_ear_inflammation1.59284653
53MP0002088_abnormal_embryonic_growth/wei1.57948595
54MP0003984_embryonic_growth_retardation1.54710175
55MP0001243_abnormal_dermal_layer1.49806197
56MP0002233_abnormal_nose_morphology1.43853437
57MP0001293_anophthalmia1.42159277
58MP0004043_abnormal_pH_regulation1.42128997
59MP0001299_abnormal_eye_distance/1.39463522
60MP0005390_skeleton_phenotype1.39095847
61MP0002092_abnormal_eye_morphology1.38027160
62MP0008789_abnormal_olfactory_epithelium1.37452076
63MP0005164_abnormal_response_to1.29811547
64MP0003755_abnormal_palate_morphology1.21911858
65MP0005266_abnormal_metabolism1.21289030
66MP0003283_abnormal_digestive_organ1.21026316
67MP0003950_abnormal_plasma_membrane1.20210579
68MP0005508_abnormal_skeleton_morphology1.19708110
69MP0002086_abnormal_extraembryonic_tissu1.18671313
70MP0009840_abnormal_foam_cell1.18414273
71MP0003935_abnormal_craniofacial_develop1.15637580
72MP0003123_paternal_imprinting1.14642295
73MP0005623_abnormal_meninges_morphology1.14279527
74MP0000350_abnormal_cell_proliferation1.14052287
75MP0002085_abnormal_embryonic_tissue1.13224286
76MP0000428_abnormal_craniofacial_morphol1.13083093
77MP0000534_abnormal_ureter_morphology1.12815955
78MP0000432_abnormal_head_morphology1.11747803
79MP0005595_abnormal_vascular_smooth1.11172937
80* MP0002114_abnormal_axial_skeleton1.08460084
81MP0003137_abnormal_impulse_conducting1.07210053
82MP0003942_abnormal_urinary_system1.05953343
83MP0002998_abnormal_bone_remodeling1.04491649
84MP0003300_gastrointestinal_ulcer1.02528472
85MP0004272_abnormal_basement_membrane1.01312340
86MP0000467_abnormal_esophagus_morphology1.00695345
87MP0005248_abnormal_Harderian_gland0.99009358
88MP0003448_altered_tumor_morphology0.97897738
89MP0000013_abnormal_adipose_tissue0.97721385
90MP0009053_abnormal_anal_canal0.96800435
91MP0002933_joint_inflammation0.96709886
92MP0008004_abnormal_stomach_pH0.96358711
93MP0001533_abnormal_skeleton_physiology0.96265127
94MP0008770_decreased_survivor_rate0.96127443
95MP0010386_abnormal_urinary_bladder0.94866734
96MP0002084_abnormal_developmental_patter0.93833561
97MP0000749_muscle_degeneration0.93644883
98MP0005023_abnormal_wound_healing0.92618306
99MP0002925_abnormal_cardiovascular_devel0.92179360
100MP0002132_abnormal_respiratory_system0.91845437
101MP0003119_abnormal_digestive_system0.90136985
102MP0003385_abnormal_body_wall0.89773278
103MP0002396_abnormal_hematopoietic_system0.89488092
104MP0004197_abnormal_fetal_growth/weight/0.88866538
105MP0002116_abnormal_craniofacial_bone0.88539884
106MP0000462_abnormal_digestive_system0.88137168
107MP0000750_abnormal_muscle_regeneration0.87664228
108MP0003937_abnormal_limbs/digits/tail_de0.86532347
109MP0002115_abnormal_skeleton_extremities0.86394593
110MP0002751_abnormal_autonomic_nervous0.85752044
111MP0000613_abnormal_salivary_gland0.85515087
112MP0005409_darkened_coat_color0.84606630
113MP0000538_abnormal_urinary_bladder0.83458692
114MP0002796_impaired_skin_barrier0.82844006
115MP0000733_abnormal_muscle_development0.81990785
116MP0005391_vision/eye_phenotype0.80705866
117MP0000858_altered_metastatic_potential0.80297451
118MP0002098_abnormal_vibrissa_morphology0.78987028
119MP0010368_abnormal_lymphatic_system0.75712670
120MP0002269_muscular_atrophy0.75543230
121MP0002113_abnormal_skeleton_development0.75486978
122MP0000681_abnormal_thyroid_gland0.74173129
123MP0002877_abnormal_melanocyte_morpholog0.73575999
124MP0004381_abnormal_hair_follicle0.73468506
125MP0002128_abnormal_blood_circulation0.73440706
126MP0005058_abnormal_lysosome_morphology0.73035262
127MP0003115_abnormal_respiratory_system0.72916824
128* MP0002970_abnormal_white_adipose0.72188745
129MP0004133_heterotaxia0.71923190
130MP0000163_abnormal_cartilage_morphology0.71833700
131MP0003077_abnormal_cell_cycle0.70858977
132MP0010771_integument_phenotype0.70834105
133MP0002249_abnormal_larynx_morphology0.69166891
134MP0003045_fibrosis0.68970505
135MP0002168_other_aberrant_phenotype0.68307339
136MP0001614_abnormal_blood_vessel0.68179173
137MP0000313_abnormal_cell_death0.67514095
138* MP0003795_abnormal_bone_structure0.66683261
139MP0001879_abnormal_lymphatic_vessel0.65896051
140MP0004883_abnormal_blood_vessel0.65076642
141MP0009250_abnormal_appendicular_skeleto0.64383520
142MP0001175_abnormal_lung_morphology0.63713467
143MP0005197_abnormal_uvea_morphology0.63713434
144MP0003453_abnormal_keratinocyte_physiol0.63554984
145MP0005388_respiratory_system_phenotype0.62769419
146MP0002133_abnormal_respiratory_system0.62769419
147MP0003787_abnormal_imprinting0.62590170
148MP0002081_perinatal_lethality0.62525479
149MP0002080_prenatal_lethality0.62231267
150MP0001286_abnormal_eye_development0.61810714
151MP0001697_abnormal_embryo_size0.61430447
152MP0009703_decreased_birth_body0.61169265
153MP0000627_abnormal_mammary_gland0.61068774
154MP0000377_abnormal_hair_follicle0.61000500
155MP0000579_abnormal_nail_morphology0.60709938
156MP0001664_abnormal_digestion0.60341235
157MP0000647_abnormal_sebaceous_gland0.60274403
158MP0001270_distended_abdomen0.60265204
159MP0003315_abnormal_perineum_morphology0.59918452
160MP0000490_abnormal_crypts_of0.58990761
161MP0002111_abnormal_tail_morphology0.57626525
162MP0000759_abnormal_skeletal_muscle0.57314436
163MP0003828_pulmonary_edema0.56595144
164MP0001730_embryonic_growth_arrest0.56271687
165MP0000343_altered_response_to0.56224040
166MP0002109_abnormal_limb_morphology0.55637102
167MP0005360_urolithiasis0.54733873
168MP0005501_abnormal_skin_physiology0.54083664
169MP0000249_abnormal_blood_vessel0.53734815
170MP0002282_abnormal_trachea_morphology0.53695084
171MP0005076_abnormal_cell_differentiation0.53262109
172MP0001216_abnormal_epidermal_layer0.52639921
173MP0005165_increased_susceptibility_to0.52483616

Predicted human phenotypes

RankGene SetZ-score
1Bilateral microphthalmos (HP:0007633)7.67327246
2Protrusio acetabuli (HP:0003179)7.12142200
3Premature rupture of membranes (HP:0001788)6.42558518
4Follicular hyperkeratosis (HP:0007502)5.94451931
5Ankle contracture (HP:0006466)5.80736626
6Hypochromic microcytic anemia (HP:0004840)5.61039329
7Hepatoblastoma (HP:0002884)5.38555329
8Vascular tortuosity (HP:0004948)5.35577047
9Aortic aneurysm (HP:0004942)5.29859057
10Abnormality of the lower motor neuron (HP:0002366)5.22321795
11Type 1 muscle fiber predominance (HP:0003803)5.07957259
12Rib fusion (HP:0000902)4.99846976
13Multiple enchondromatosis (HP:0005701)4.94430528
14Aortic dissection (HP:0002647)4.72243305
15Arterial tortuosity (HP:0005116)4.65928077
16Slender build (HP:0001533)4.45320487
17Cervical subluxation (HP:0003308)4.38231381
18Bladder diverticulum (HP:0000015)4.14579791
19Soft skin (HP:0000977)4.08254028
20Broad metatarsal (HP:0001783)4.08005548
21Spinal rigidity (HP:0003306)4.06416141
22Partial duplication of thumb phalanx (HP:0009944)4.01846782
23Atrophic scars (HP:0001075)4.01263093
24Ependymoma (HP:0002888)3.99541109
25Vertebral compression fractures (HP:0002953)3.74611671
26Rectovaginal fistula (HP:0000143)3.69532922
27Rectal fistula (HP:0100590)3.69532922
28Bifid tongue (HP:0010297)3.66352424
29Abnormality of dentin (HP:0010299)3.60997097
30Partial duplication of the phalanx of hand (HP:0009999)3.56168313
31Wormian bones (HP:0002645)3.55378819
32Neoplasm of striated muscle (HP:0009728)3.48524157
33Increased variability in muscle fiber diameter (HP:0003557)3.45931619
34Neonatal short-limb short stature (HP:0008921)3.43884243
35Nephroblastoma (Wilms tumor) (HP:0002667)3.38405309
36Fragile skin (HP:0001030)3.32659706
37Fused cervical vertebrae (HP:0002949)3.31838942
38Intestinal fistula (HP:0100819)3.31487563
39Spondylolisthesis (HP:0003302)3.31161838
40Testicular atrophy (HP:0000029)3.28922036
41Vaginal fistula (HP:0004320)3.25975663
42Anomalous pulmonary venous return (HP:0010772)3.23048385
43Genu recurvatum (HP:0002816)3.21565867
44Aplasia/Hypoplasia of the fovea (HP:0008060)3.21056367
45Hypoplasia of the fovea (HP:0007750)3.21056367
46Overgrowth (HP:0001548)3.20313439
47Embryonal renal neoplasm (HP:0011794)3.16441707
48Hypoventilation (HP:0002791)3.12662563
49Rhabdomyosarcoma (HP:0002859)3.10829042
50Hyperinsulinemic hypoglycemia (HP:0000825)3.08211246
51Short humerus (HP:0005792)3.03884844
52Dilatation of the ascending aorta (HP:0005111)3.03877895
53Blue sclerae (HP:0000592)3.02482718
54Aplasia/hypoplasia of the humerus (HP:0006507)3.01391127
55Abnormality of the phalanges of the hallux (HP:0010057)2.99868022
56Shallow orbits (HP:0000586)2.99749790
57Abnormality of the salivary glands (HP:0010286)2.94725275
58Chromosomal breakage induced by crosslinking agents (HP:0003221)2.92802658
59Abnormal cartilage morphology (HP:0002763)2.92698743
60Amyotrophic lateral sclerosis (HP:0007354)2.90819960
61Astrocytoma (HP:0009592)2.90797022
62Abnormality of the astrocytes (HP:0100707)2.90797022
63Abnormality of skeletal muscle fiber size (HP:0012084)2.89461224
64Joint laxity (HP:0001388)2.87288090
65Ragged-red muscle fibers (HP:0003200)2.85025519
66Abnormality of the pulmonary veins (HP:0011718)2.80448837
67Abnormality of the distal phalanx of the thumb (HP:0009617)2.79691912
68Elbow flexion contracture (HP:0002987)2.78768873
69Generalized hypotonia (HP:0001290)2.77620087
70Horizontal nystagmus (HP:0000666)2.75768384
71Abnormal lung lobation (HP:0002101)2.73374469
72Preauricular pit (HP:0004467)2.73149567
73Periauricular skin pits (HP:0100277)2.73149567
74Trismus (HP:0000211)2.73003086
75Mitral valve prolapse (HP:0001634)2.72888684
76Peritonitis (HP:0002586)2.67114944
77Abnormality of the pubic bones (HP:0003172)2.64690943
78Increased connective tissue (HP:0009025)2.63789966
79Preauricular skin tag (HP:0000384)2.61578066
80Hyperextensible skin (HP:0000974)2.57773358
81Aneurysm (HP:0002617)2.57678668
82Short 5th finger (HP:0009237)2.56937168
83Hyperventilation (HP:0002883)2.56617237
84Coronal craniosynostosis (HP:0004440)2.56393513
85Bowel diverticulosis (HP:0005222)2.52187291
86Wide anterior fontanel (HP:0000260)2.48475968
87Abnormality of the Achilles tendon (HP:0005109)2.47797957
88Difficulty running (HP:0009046)2.45881999
89Obstructive sleep apnea (HP:0002870)2.45293045
90Osteolytic defects of the hand bones (HP:0009699)2.44390363
91Osteolytic defects of the phalanges of the hand (HP:0009771)2.44390363
92Neoplasm of the heart (HP:0100544)2.43741726
93Sensory axonal neuropathy (HP:0003390)2.43343230
94Hand muscle atrophy (HP:0009130)2.42361380
95Long toe (HP:0010511)2.41912628
96Large earlobe (HP:0009748)2.41211031
97Chromsome breakage (HP:0040012)2.39757737
98Hypopigmentation of the fundus (HP:0007894)2.39523598
99Biconcave vertebral bodies (HP:0004586)2.39024618
100Abnormality of the fovea (HP:0000493)2.38738707
101Natal tooth (HP:0000695)2.38704636
102Generalized amyotrophy (HP:0003700)2.36812118
103Nasolacrimal duct obstruction (HP:0000579)2.36463586
104Aortic regurgitation (HP:0001659)2.36343406
105Aplasia/Hypoplasia of the 5th finger (HP:0006262)2.34521966
106Reduced antithrombin III activity (HP:0001976)2.32741695
107Skin tags (HP:0010609)2.30615695
108Renal duplication (HP:0000075)2.29142612
109Abnormality of the musculature of the hand (HP:0001421)2.27965492
110Abnormality of the acetabulum (HP:0003170)2.27365028
111Cerebral aneurysm (HP:0004944)2.25219554
112Hypochromic anemia (HP:0001931)2.24766869
113Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.24240865
114Shawl scrotum (HP:0000049)2.23800248
115Thoracolumbar scoliosis (HP:0002944)2.23779317
116Protruding ear (HP:0000411)2.23417321
117Progressive muscle weakness (HP:0003323)2.20252492
118Tetraplegia (HP:0002445)2.19843172
119Mildly elevated creatine phosphokinase (HP:0008180)2.19651294
120Tongue fasciculations (HP:0001308)2.19462735
121Upper limb muscle weakness (HP:0003484)2.18312646
122Hypoplastic scapulae (HP:0000882)2.17769643
123Aplasia/Hypoplasia of the scapulae (HP:0006713)2.17769643
124Microretrognathia (HP:0000308)2.16553522
125Abnormality of chromosome segregation (HP:0002916)2.15530444
126Hydroxyprolinuria (HP:0003080)2.14457543
127Abnormality of proline metabolism (HP:0010907)2.14457543
128Skin pits (HP:0100276)2.13483818
129Nasal polyposis (HP:0100582)2.12311276
130Aplasia/Hypoplasia of the macula (HP:0008059)2.10100085
131Mitral regurgitation (HP:0001653)2.09762374
132Villous atrophy (HP:0011473)2.09117659
133Abnormality of small intestinal villus morphology (HP:0011472)2.09117659
134Redundant skin (HP:0001582)2.08404124
135Muscle fibrillation (HP:0010546)2.06997309
136Bronchomalacia (HP:0002780)2.04537111
137Glioma (HP:0009733)2.03996912
138Upper limb amyotrophy (HP:0009129)2.03349864
139Distal upper limb amyotrophy (HP:0007149)2.03349864
140Preaxial foot polydactyly (HP:0001841)2.02541113
141Pendular nystagmus (HP:0012043)2.01546885
142Prominent occiput (HP:0000269)2.01497539
143Glossoptosis (HP:0000162)2.01339391
144Pseudobulbar signs (HP:0002200)2.01292095
145Upper motor neuron abnormality (HP:0002127)1.99415010
146Limb-girdle muscle weakness (HP:0003325)1.99151873
147Duplication of thumb phalanx (HP:0009942)1.98597385
148Impulsivity (HP:0100710)1.97796004
149Abnormality of the intrinsic pathway (HP:0010989)1.97619351
150Abnormality of glycolipid metabolism (HP:0010969)1.97293507
151Abnormality of liposaccharide metabolism (HP:0010968)1.97293507
152Abnormality of glycosphingolipid metabolism (HP:0004343)1.97293507
153Skin nodule (HP:0200036)1.97098753
154Achilles tendon contracture (HP:0001771)1.96958838
155Amblyopia (HP:0000646)1.95367726
156Joint stiffness (HP:0001387)1.94383351
157Cheilitis (HP:0100825)1.93756265
158Cardiovascular calcification (HP:0011915)1.93075762
159Concave nail (HP:0001598)1.93017621
160Aortic valve stenosis (HP:0001650)1.91359379
161Vertebral fusion (HP:0002948)1.91208903
162Wrist flexion contracture (HP:0001239)1.90643563
163Short nail (HP:0001799)1.90364116
164Disproportionate tall stature (HP:0001519)1.88485997
165Abnormal delivery (HP:0001787)1.87164406
166Ovoid vertebral bodies (HP:0003300)1.86179030
167Delayed cranial suture closure (HP:0000270)1.83071778
168Abnormal umbilical cord blood vessels (HP:0011403)1.82731289
169Single umbilical artery (HP:0001195)1.82731289
170Abnormality of the fetal cardiovascular system (HP:0010948)1.82731289
171Hydroureter (HP:0000072)1.82518893
172Emphysema (HP:0002097)1.82404792
173Delayed closure of the anterior fontanelle (HP:0001476)1.82020398
174Camptodactyly of toe (HP:0001836)1.81187827
175Urinary glycosaminoglycan excretion (HP:0003541)1.80205683
176Mucopolysacchariduria (HP:0008155)1.80205683
177Absent frontal sinuses (HP:0002688)1.77809128
178Osteopenia (HP:0000938)1.75044156
179Persistence of primary teeth (HP:0006335)1.73752892
180Inguinal hernia (HP:0000023)1.73125778
181Tarsal synostosis (HP:0008368)1.71264689
182Coxa vara (HP:0002812)1.70732056
183Deviation of the hallux (HP:0010051)1.69262205
184Mesomelia (HP:0003027)1.69259322
185Abnormality of polysaccharide metabolism (HP:0011012)1.67318714
186Abnormality of glycosaminoglycan metabolism (HP:0004371)1.67318714
187Abnormality of mucopolysaccharide metabolism (HP:0011020)1.67318714
188Turricephaly (HP:0000262)1.67174385
189Thin bony cortex (HP:0002753)1.67092863
190Advanced eruption of teeth (HP:0006288)1.66539472
191Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.65700819
192Ulnar bowing (HP:0003031)1.65342867
193Sparse lateral eyebrow (HP:0005338)1.65081570
194Breech presentation (HP:0001623)1.63839702
195Flared iliac wings (HP:0002869)1.63509925

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK129.42181300
2ERN15.48874944
3MYLK4.67063473
4CSF1R3.37401283
5TGFBR23.36934301
6TYRO33.04707041
7GRK72.91632498
8MATK2.72625550
9MAPK72.65909289
10EPHB22.57644326
11MOS2.54616278
12STK102.50958469
13TTK2.45433442
14WNK12.39995882
15* GRK52.39899728
16PRKG22.12605675
17NTRK12.08668396
18CAMK41.90991481
19CDC42BPA1.87788035
20EPHA21.83636675
21TTN1.80738017
22MET1.79571791
23TESK11.79274525
24FLT31.71326628
25MARK21.69672174
26EPHB11.64645822
27MAP3K101.59466687
28CDK71.57351500
29PDGFRB1.55728470
30PAK41.53612256
31PIM21.52863365
32LIMK11.38595224
33NEK91.38155723
34ABL21.36068161
35FGFR31.34914026
36RPS6KA21.33953282
37HIPK21.31524340
38PIK3CG1.22788325
39MAP2K41.22325147
40AKT31.18690084
41KIT1.17989833
42MST1R1.15232861
43ARAF1.12521019
44JAK11.10869537
45IRAK31.10760340
46MAP3K71.09028717
47FGFR41.05548456
48ALK1.05308771
49CHEK21.05199429
50LATS21.04538253
51MAP2K61.03488822
52ERBB41.03170589
53MAP3K31.00735297
54PKN21.00276259
55CSK0.95875928
56PLK10.93633969
57AKT20.90738243
58TRPM70.85870027
59ROCK10.84305023
60LMTK20.84200904
61MAPK120.83437705
62RPS6KL10.81642944
63RPS6KC10.81642944
64ROCK20.81197006
65PTK20.80578751
66DAPK30.76880727
67MAP3K60.75836610
68MELK0.75155832
69EPHA30.74491707
70PDGFRA0.73905681
71PTK2B0.72252431
72DDR20.72223033
73SMG10.71402028
74EIF2AK20.71011757
75RIPK10.70590850
76CHEK10.69079734
77ZAP700.68095298
78MTOR0.66925745
79MAP3K90.66120289
80TBK10.64109522
81RPS6KA60.63844196
82CDK80.63068731
83KSR20.60425319
84CLK10.60343660
85PRKCI0.60341224
86STK30.57686443
87PDPK10.56661977
88ITK0.56263071
89ERBB20.55858370
90JAK30.52984910
91BMX0.52312049
92FER0.50791080
93PRKD10.50137851
94MAP3K130.50030188
95MAP3K10.49678453
96EEF2K0.47945412
97MAP3K20.47549542
98ILK0.47533985
99TYK20.46743299
100SIK10.46721087
101TGFBR10.46371211
102CAMK2G0.46210037
103PRKD20.46099382
104MAP2K10.44640376
105PTK60.42851441
106IKBKB0.41880960
107DYRK1B0.41332568
108CDK20.40735273
109INSR0.40026239
110* ADRBK10.38133555
111GSK3A0.36861952
112PAK30.36351894
113BRAF0.35743576
114STK380.35677568
115RET0.35291147
116RPS6KB20.34692821
117STK38L0.34684365
118MAPK100.33999591
119PAK10.33950315
120AURKA0.32555326
121CSNK1E0.32350471
122IKBKE0.31475620
123MAP2K30.31472911
124PRKACG0.29713371
125* SRC0.29067327
126* IGF1R0.28606363
127NEK20.28327427
128CHUK0.27886297
129MAPK10.26812566
130ICK0.26784266
131DYRK1A0.26032974
132ATM0.25113436
133CDK150.24943883
134MAPK40.24424659
135GSK3B0.24322023
136TAOK10.23542873
137PRKAA10.23432011
138PRKACB0.22969902
139CDK40.22964921
140CDK10.21938469
141CDK180.20971640
142CDK11A0.20970064
143MAPK140.20929707
144PRKCG0.20299715
145DYRK20.20277409
146PRKACA0.20165014
147NTRK20.18237080
148RPS6KA30.18143375
149TRIB30.18087068
150SIK20.17352410
151AURKB0.17292448
152MAPKAPK30.17022018
153* PRKCD0.16602004
154PAK20.16582838
155PAK60.16085290
156MAPKAPK20.15867995
157LATS10.14967884
158EGFR0.13511409
159TAOK20.12568564
160CDK140.12539534
161PRPF4B0.12326663
162PRKCH0.12180761
163AKT10.11572444

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007506.98388797
2Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006036.94664955
3Fructose and mannose metabolism_Homo sapiens_hsa000513.88042661
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.18494205
5Arachidonic acid metabolism_Homo sapiens_hsa005902.93100110
6Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.90690297
7Galactose metabolism_Homo sapiens_hsa000522.81977294
8Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.50407972
9Linoleic acid metabolism_Homo sapiens_hsa005912.43196376
10alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.35451285
11Pentose and glucuronate interconversions_Homo sapiens_hsa000402.03144978
12Amoebiasis_Homo sapiens_hsa051461.94597583
13AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.88930846
14mTOR signaling pathway_Homo sapiens_hsa041501.74317571
15Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.71995730
16Thyroid cancer_Homo sapiens_hsa052161.69170691
17Melanoma_Homo sapiens_hsa052181.67282037
18Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.47016219
19Ovarian steroidogenesis_Homo sapiens_hsa049131.41555541
20Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.32733818
21TGF-beta signaling pathway_Homo sapiens_hsa043501.32381834
22Sulfur metabolism_Homo sapiens_hsa009201.31987273
23* Complement and coagulation cascades_Homo sapiens_hsa046101.31938840
24Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.29156607
25Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.27332383
26Phospholipase D signaling pathway_Homo sapiens_hsa040721.27093001
27Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.24370182
28Malaria_Homo sapiens_hsa051441.23870345
29Chronic myeloid leukemia_Homo sapiens_hsa052201.23051047
30Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.17538004
31Glycosaminoglycan degradation_Homo sapiens_hsa005311.13836424
32Prostate cancer_Homo sapiens_hsa052151.10237804
33Ether lipid metabolism_Homo sapiens_hsa005651.09299147
34Glioma_Homo sapiens_hsa052141.09165908
35Gap junction_Homo sapiens_hsa045401.08433792
36RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.06272610
37Prion diseases_Homo sapiens_hsa050201.05906529
38Chemical carcinogenesis_Homo sapiens_hsa052041.04640248
39Basal cell carcinoma_Homo sapiens_hsa052171.04582637
40TNF signaling pathway_Homo sapiens_hsa046681.03229341
41Renin-angiotensin system_Homo sapiens_hsa046141.01901235
42Lysosome_Homo sapiens_hsa041421.01745755
43Inositol phosphate metabolism_Homo sapiens_hsa005621.01741710
44Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.97998406
45Other glycan degradation_Homo sapiens_hsa005110.96601343
46Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.94803836
47Central carbon metabolism in cancer_Homo sapiens_hsa052300.94492460
48Transcriptional misregulation in cancer_Homo sapiens_hsa052020.92993222
49Hedgehog signaling pathway_Homo sapiens_hsa043400.92104997
50Choline metabolism in cancer_Homo sapiens_hsa052310.90337979
51* Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.90089286
52Rap1 signaling pathway_Homo sapiens_hsa040150.89985493
53mRNA surveillance pathway_Homo sapiens_hsa030150.89822097
54RNA transport_Homo sapiens_hsa030130.89377408
55Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.89233752
56Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.88714348
57Mineral absorption_Homo sapiens_hsa049780.88482148
58Melanogenesis_Homo sapiens_hsa049160.88367336
59African trypanosomiasis_Homo sapiens_hsa051430.83455690
60Renal cell carcinoma_Homo sapiens_hsa052110.82232681
61MicroRNAs in cancer_Homo sapiens_hsa052060.82001859
62Pertussis_Homo sapiens_hsa051330.81758696
63Thyroid hormone signaling pathway_Homo sapiens_hsa049190.81667571
64Axon guidance_Homo sapiens_hsa043600.81224092
65* Regulation of actin cytoskeleton_Homo sapiens_hsa048100.80946250
66Estrogen signaling pathway_Homo sapiens_hsa049150.79748024
67Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.78419559
68Bladder cancer_Homo sapiens_hsa052190.78208899
69Hippo signaling pathway_Homo sapiens_hsa043900.76518666
70Tryptophan metabolism_Homo sapiens_hsa003800.75832629
71Endometrial cancer_Homo sapiens_hsa052130.75662950
72Hepatitis C_Homo sapiens_hsa051600.74766102
73* Pathways in cancer_Homo sapiens_hsa052000.74632711
74Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.73563211
75Sphingolipid metabolism_Homo sapiens_hsa006000.73130831
76Endocytosis_Homo sapiens_hsa041440.72768934
77N-Glycan biosynthesis_Homo sapiens_hsa005100.71907133
78Prolactin signaling pathway_Homo sapiens_hsa049170.71360805
79Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.70601486
80Acute myeloid leukemia_Homo sapiens_hsa052210.69538013
81Cyanoamino acid metabolism_Homo sapiens_hsa004600.68863276
82Proteoglycans in cancer_Homo sapiens_hsa052050.68461247
83Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.68129983
84Protein digestion and absorption_Homo sapiens_hsa049740.67294367
85Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.67043158
86Vibrio cholerae infection_Homo sapiens_hsa051100.66751867
87Taste transduction_Homo sapiens_hsa047420.64753316
88VEGF signaling pathway_Homo sapiens_hsa043700.64522306
89* cGMP-PKG signaling pathway_Homo sapiens_hsa040220.62301895
90Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.62095405
91Non-small cell lung cancer_Homo sapiens_hsa052230.61842258
92Leukocyte transendothelial migration_Homo sapiens_hsa046700.60153253
93ErbB signaling pathway_Homo sapiens_hsa040120.58916733
94Toxoplasmosis_Homo sapiens_hsa051450.56744123
95One carbon pool by folate_Homo sapiens_hsa006700.56245008
96Phosphatidylinositol signaling system_Homo sapiens_hsa040700.56222745
97Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.55505922
98Shigellosis_Homo sapiens_hsa051310.55284381
99Glycerophospholipid metabolism_Homo sapiens_hsa005640.55015442
100Glutathione metabolism_Homo sapiens_hsa004800.54070228
101PPAR signaling pathway_Homo sapiens_hsa033200.53974922
102Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.53642985
103Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.53605881
104Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.53501116
105Fanconi anemia pathway_Homo sapiens_hsa034600.53473560
106Tight junction_Homo sapiens_hsa045300.53104402
107p53 signaling pathway_Homo sapiens_hsa041150.52999559
108Jak-STAT signaling pathway_Homo sapiens_hsa046300.51331586
109Ras signaling pathway_Homo sapiens_hsa040140.50467347
110AMPK signaling pathway_Homo sapiens_hsa041520.49748853
111Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.49570205
112PI3K-Akt signaling pathway_Homo sapiens_hsa041510.49394111
113Notch signaling pathway_Homo sapiens_hsa043300.47144298
114ECM-receptor interaction_Homo sapiens_hsa045120.46640360
115Platelet activation_Homo sapiens_hsa046110.46157250
116Cell cycle_Homo sapiens_hsa041100.45784631
117Focal adhesion_Homo sapiens_hsa045100.45567309
118GnRH signaling pathway_Homo sapiens_hsa049120.45350223
119Vascular smooth muscle contraction_Homo sapiens_hsa042700.45257136
120* Sphingolipid signaling pathway_Homo sapiens_hsa040710.44996633
121Wnt signaling pathway_Homo sapiens_hsa043100.43637391
122Dilated cardiomyopathy_Homo sapiens_hsa054140.43587288
123Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.43292148
124Long-term depression_Homo sapiens_hsa047300.43190903
125Thyroid hormone synthesis_Homo sapiens_hsa049180.43115960
126Pancreatic cancer_Homo sapiens_hsa052120.42876210
127Cocaine addiction_Homo sapiens_hsa050300.42403916
128Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.42354673
129RNA degradation_Homo sapiens_hsa030180.42279731
130Serotonergic synapse_Homo sapiens_hsa047260.42167507
131Sulfur relay system_Homo sapiens_hsa041220.40392344
132Apoptosis_Homo sapiens_hsa042100.39514670
133Adherens junction_Homo sapiens_hsa045200.39428358
134Pentose phosphate pathway_Homo sapiens_hsa000300.37701407
135* Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.37669725
136Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.35671254
137Folate biosynthesis_Homo sapiens_hsa007900.33352736
138Glutamatergic synapse_Homo sapiens_hsa047240.32073335
139Small cell lung cancer_Homo sapiens_hsa052220.30752903
140Longevity regulating pathway - mammal_Homo sapiens_hsa042110.27355509
141cAMP signaling pathway_Homo sapiens_hsa040240.23887792
142Neurotrophin signaling pathway_Homo sapiens_hsa047220.22184848
143Carbon metabolism_Homo sapiens_hsa012000.22174219
144Dorso-ventral axis formation_Homo sapiens_hsa043200.21803070
145Adipocytokine signaling pathway_Homo sapiens_hsa049200.21411627
146Insulin resistance_Homo sapiens_hsa049310.20520000
147Herpes simplex infection_Homo sapiens_hsa051680.20447123
148Bile secretion_Homo sapiens_hsa049760.20229773
149GABAergic synapse_Homo sapiens_hsa047270.17437310
150MAPK signaling pathway_Homo sapiens_hsa040100.17153895
151HTLV-I infection_Homo sapiens_hsa051660.15029513

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