DKK1

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 protein that is a member of the dickkopf family. It is a secreted protein with two cysteine rich regions and is involved in embryonic development through its inhibition of the WNT signaling pathway. Elevated levels of DKK1 in bone marrow plasma and peripheral blood is associated with the presence of osteolytic bone lesions in patients with multiple myeloma. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1doxorubicin metabolic process (GO:0044598)6.40674439
2daunorubicin metabolic process (GO:0044597)6.40674439
3polyketide metabolic process (GO:0030638)6.40674439
4skin morphogenesis (GO:0043589)5.58624933
5hemidesmosome assembly (GO:0031581)4.81533347
6Golgi transport vesicle coating (GO:0048200)4.79524456
7COPI coating of Golgi vesicle (GO:0048205)4.79524456
8type B pancreatic cell proliferation (GO:0044342)4.59647057
9cell adhesion mediated by integrin (GO:0033627)4.57531087
10sympathetic nervous system development (GO:0048485)4.56403741
11substrate-dependent cell migration (GO:0006929)4.44041717
12behavioral response to nicotine (GO:0035095)4.30643143
13mesenchymal cell differentiation involved in kidney development (GO:0072161)4.29801730
14mesenchymal cell differentiation involved in renal system development (GO:2001012)4.29801730
15endocardial cushion development (GO:0003197)4.28525409
16DNA integration (GO:0015074)4.21182751
17maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.19233647
18collagen fibril organization (GO:0030199)4.17665413
19protein retention in ER lumen (GO:0006621)4.17545026
20protein localization to endosome (GO:0036010)4.13455642
21protein maturation by protein folding (GO:0022417)3.90629146
22energy homeostasis (GO:0097009)3.88945139
23superoxide anion generation (GO:0042554)3.88384120
24negative regulation of axon extension involved in axon guidance (GO:0048843)3.84712329
25aminoglycoside antibiotic metabolic process (GO:0030647)3.76867787
26desmosome organization (GO:0002934)3.75914774
27cell-substrate junction assembly (GO:0007044)3.75836000
28response to pheromone (GO:0019236)3.73954177
29positive regulation of actin filament depolymerization (GO:0030836)3.67660191
30dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.66297345
31endothelial cell morphogenesis (GO:0001886)3.64904660
32cell migration involved in sprouting angiogenesis (GO:0002042)3.60209530
33detection of molecule of bacterial origin (GO:0032490)3.59781929
34muscle cell migration (GO:0014812)3.51032221
35presynaptic membrane organization (GO:0097090)3.50054253
36embryonic skeletal joint morphogenesis (GO:0060272)3.49194700
37hypotonic response (GO:0006971)3.43510378
38ganglion development (GO:0061548)3.41503168
39positive regulation of blood vessel endothelial cell migration (GO:0043536)3.36943379
40presynaptic membrane assembly (GO:0097105)3.35375615
41negative regulation of mast cell activation (GO:0033004)3.33320602
42membrane raft organization (GO:0031579)3.31433112
43retina vasculature morphogenesis in camera-type eye (GO:0061299)3.28106061
44cell migration involved in heart development (GO:0060973)3.27605533
45regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.26305790
46protein heterotrimerization (GO:0070208)3.25883649
47cellular response to interferon-alpha (GO:0035457)3.25172904
48regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.23318250
49endodermal cell differentiation (GO:0035987)3.22110823
50sequestering of extracellular ligand from receptor (GO:0035581)3.19137741
51negative regulation of chondrocyte differentiation (GO:0032331)3.18826386
52regulation of plasminogen activation (GO:0010755)3.18205484
53negative regulation of fatty acid transport (GO:2000192)3.17520785
54focal adhesion assembly (GO:0048041)3.17374106
55cell-substrate adherens junction assembly (GO:0007045)3.17374106
56auditory receptor cell stereocilium organization (GO:0060088)3.17007637
57chondrocyte proliferation (GO:0035988)3.16284453
58mesodermal cell differentiation (GO:0048333)3.14812770
59kidney mesenchyme development (GO:0072074)3.13066813
60mammary gland epithelial cell proliferation (GO:0033598)3.12754992
61mesonephros development (GO:0001823)3.12062492
62COPII vesicle coating (GO:0048208)3.11537754
63negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)3.11355136
64adherens junction assembly (GO:0034333)3.09318261
65wound healing, spreading of epidermal cells (GO:0035313)3.07595570
66protein hydroxylation (GO:0018126)3.01890845
67protein localization to microtubule (GO:0035372)2.98968419
68positive regulation of uterine smooth muscle contraction (GO:0070474)2.98473434
69negative regulation of axon guidance (GO:1902668)2.98147958
70actin filament depolymerization (GO:0030042)2.93708614
71neuron projection extension involved in neuron projection guidance (GO:1902284)2.93620401
72axon extension involved in axon guidance (GO:0048846)2.93620401
73wound healing, spreading of cells (GO:0044319)2.92964990
74inner ear receptor stereocilium organization (GO:0060122)2.92021468
75mesenchymal-epithelial cell signaling (GO:0060638)2.91761307
76facial nerve structural organization (GO:0021612)2.89684598
77extracellular matrix assembly (GO:0085029)2.88020966
78regulation of metalloenzyme activity (GO:0048552)2.86273541
79barbed-end actin filament capping (GO:0051016)2.84351504
80outflow tract septum morphogenesis (GO:0003148)2.81290532
81detection of external biotic stimulus (GO:0098581)2.80474006
82positive regulation of protein homodimerization activity (GO:0090073)2.80299215
83centriole assembly (GO:0098534)2.80280677
84positive regulation of endothelial cell migration (GO:0010595)2.79913629
85activation of Rac GTPase activity (GO:0032863)2.79110011
86positive regulation of osteoblast proliferation (GO:0033690)2.78707198
87regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.78270303
88cell differentiation involved in metanephros development (GO:0072202)2.78194343
89regulation of mitotic spindle checkpoint (GO:1903504)2.77466617
90regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.77466617
91heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.77178049
92detection of other organism (GO:0098543)2.76804107
93mesenchymal cell differentiation (GO:0048762)2.76546097
94planar cell polarity pathway involved in neural tube closure (GO:0090179)2.75372600
95blood vessel endothelial cell migration (GO:0043534)2.75234734
96negative regulation of anoikis (GO:2000811)2.73842325
97positive regulation of endothelial cell apoptotic process (GO:2000353)2.71810081
98retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.71640333
99vascular endothelial growth factor signaling pathway (GO:0038084)2.70886705
100positive regulation of interleukin-8 secretion (GO:2000484)2.70788054
101hyaluronan catabolic process (GO:0030214)2.70378421
102regulation of interleukin-8 secretion (GO:2000482)2.70343021
103branching involved in mammary gland duct morphogenesis (GO:0060444)2.69771835
104cardiac chamber formation (GO:0003207)2.69558793
105tRNA methylation (GO:0030488)2.69348888
106mitotic nuclear envelope reassembly (GO:0007084)2.68897751
107nuclear envelope reassembly (GO:0031468)2.68897751
108adenosine metabolic process (GO:0046085)2.68344178
109extracellular fibril organization (GO:0043206)2.67570743
110negative regulation of myoblast differentiation (GO:0045662)2.65762776
111positive regulation of cellular amide metabolic process (GO:0034250)2.65479472
112detection of bacterium (GO:0016045)2.64795881
113glomerular basement membrane development (GO:0032836)2.63873228
114cochlea morphogenesis (GO:0090103)2.63849645
115DNA catabolic process, exonucleolytic (GO:0000738)2.63365655
116cellular response to vitamin (GO:0071295)2.63260542
117endothelial cell chemotaxis (GO:0035767)2.62957375
118metanephric mesenchyme development (GO:0072075)2.61641235
119protein localization to cell surface (GO:0034394)2.61552612
120nucleobase-containing small molecule interconversion (GO:0015949)2.61442092
121nucleotide-sugar biosynthetic process (GO:0009226)2.61375652
122substrate adhesion-dependent cell spreading (GO:0034446)2.61224237
123peptidyl-proline hydroxylation (GO:0019511)2.60906346
124specification of organ identity (GO:0010092)2.59981479
125chondrocyte development (GO:0002063)2.59487707
126glomerular visceral epithelial cell development (GO:0072015)2.58462232
127negative regulation of smooth muscle cell migration (GO:0014912)2.58369244
128regulation of dendritic cell antigen processing and presentation (GO:0002604)2.58138512
129vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.57470575
130apoptotic cell clearance (GO:0043277)2.57250278
131embryonic cranial skeleton morphogenesis (GO:0048701)2.57187245
132collagen metabolic process (GO:0032963)2.56927128
133regulation of activation of Janus kinase activity (GO:0010533)2.56454948
134response to magnesium ion (GO:0032026)2.56104899
135opioid receptor signaling pathway (GO:0038003)2.54973859
136mannosylation (GO:0097502)2.54157662
137regulation of mesenchymal cell apoptotic process (GO:2001053)2.52419712
138cellular anion homeostasis (GO:0030002)2.51869021
139positive regulation of interleukin-1 beta secretion (GO:0050718)2.51758714
140regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.51752241
141positive regulation of pseudopodium assembly (GO:0031274)2.51512199
142vesicle coating (GO:0006901)2.51371981
143basement membrane organization (GO:0071711)2.49566787
144positive regulation of epithelial cell migration (GO:0010634)2.48706114
145cardiac ventricle formation (GO:0003211)2.47232367
146dentate gyrus development (GO:0021542)2.46822664
147cranial nerve structural organization (GO:0021604)2.46533238
148negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)2.46215670
149histamine secretion (GO:0001821)2.43432529
150regulation of non-canonical Wnt signaling pathway (GO:2000050)2.42673518
151negative regulation of stem cell proliferation (GO:2000647)2.42403105
152DNA double-strand break processing (GO:0000729)2.41365481
153cell proliferation involved in kidney development (GO:0072111)2.41326304
154neural crest cell development (GO:0014032)2.39230953
155pyrimidine dimer repair (GO:0006290)2.37945566
156regulation of DNA endoreduplication (GO:0032875)2.36408388
157detection of biotic stimulus (GO:0009595)2.34466355
158developmental pigmentation (GO:0048066)2.34286036
159DNA strand renaturation (GO:0000733)2.32725526
160kinetochore assembly (GO:0051382)2.30992627
161cell differentiation involved in kidney development (GO:0061005)2.30959035
162limb bud formation (GO:0060174)2.29384812
163norepinephrine metabolic process (GO:0042415)2.27988068
164phenol-containing compound catabolic process (GO:0019336)2.27116583
165positive regulation of interleukin-1 secretion (GO:0050716)2.26401954
166cranial nerve morphogenesis (GO:0021602)2.25380538
167mesenchymal cell proliferation (GO:0010463)2.25237381
168embryonic digestive tract morphogenesis (GO:0048557)2.21453575
169dendritic cell chemotaxis (GO:0002407)2.19749664
170cellular response to gamma radiation (GO:0071480)2.19662539
171G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.19459366
172replicative senescence (GO:0090399)2.16534370
173natural killer cell activation involved in immune response (GO:0002323)2.16434880
174regulation of pigment cell differentiation (GO:0050932)2.16028859
175behavioral response to ethanol (GO:0048149)2.15572719
176sulfate transport (GO:0008272)2.15044308
177regulation of cardioblast proliferation (GO:0003264)2.14266499
178regulation of secondary heart field cardioblast proliferation (GO:0003266)2.14266499
179serotonin receptor signaling pathway (GO:0007210)2.14191102
180cerebral cortex radially oriented cell migration (GO:0021799)2.13895568
181positive regulation of protein sumoylation (GO:0033235)2.13779265
182regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.13442476
183regulation of interleukin-1 beta secretion (GO:0050706)2.12616517
184female gonad development (GO:0008585)2.12153740
185regulation of timing of cell differentiation (GO:0048505)2.11800517
186positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)2.10765027
187startle response (GO:0001964)2.10747302
188protein heterotetramerization (GO:0051290)2.10574898
189cell proliferation involved in metanephros development (GO:0072203)2.10266782
190* regulation of mesoderm development (GO:2000380)2.10000663
191interferon-gamma production (GO:0032609)2.09767112
192negative regulation of mesenchymal cell apoptotic process (GO:2001054)2.07838886
193negative regulation of keratinocyte proliferation (GO:0010839)2.07800977
194estrogen biosynthetic process (GO:0006703)2.07559860
195deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.06649928
196epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.06018876
197atrial cardiac muscle cell action potential (GO:0086014)2.05713158

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human5.71672912
2TRIM28_21343339_ChIP-Seq_HEK293_Human4.40013991
3RARG_19884340_ChIP-ChIP_MEFs_Mouse4.33604221
4GBX2_23144817_ChIP-Seq_PC3_Human3.94118533
5TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.91550106
6SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.20305479
7TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.03358712
8HIF1A_21447827_ChIP-Seq_MCF-7_Human2.95872882
9ZFP57_27257070_Chip-Seq_ESCs_Mouse2.81051653
10ZNF263_19887448_ChIP-Seq_K562_Human2.67579883
11* BMI1_23680149_ChIP-Seq_NPCS_Mouse2.65703585
12TP63_19390658_ChIP-ChIP_HaCaT_Human2.64550089
13AR_21909140_ChIP-Seq_LNCAP_Human2.59069394
14PCGF2_27294783_Chip-Seq_ESCs_Mouse2.56183287
15GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.55764941
16RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.55652997
17BRD4_25478319_ChIP-Seq_HGPS_Human2.50789156
18EZH2_22144423_ChIP-Seq_EOC_Human2.41157786
19SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.39865969
20SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.39865969
21* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human2.38150857
22NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.37148357
23ELK3_25401928_ChIP-Seq_HUVEC_Human2.33410396
24FLI1_27457419_Chip-Seq_LIVER_Mouse2.33189557
25CLOCK_20551151_ChIP-Seq_293T_Human2.29093321
26BP1_19119308_ChIP-ChIP_Hs578T_Human2.27493199
27CBX2_27304074_Chip-Seq_ESCs_Mouse2.27271710
28FOXM1_23109430_ChIP-Seq_U2OS_Human2.23843084
29ESR1_21235772_ChIP-Seq_MCF-7_Human2.20430866
30TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.13392635
31SUZ12_27294783_Chip-Seq_NPCs_Mouse2.11110836
32DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.08332225
33HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.07832108
34* EED_16625203_ChIP-ChIP_MESCs_Mouse2.07416844
35ESR2_21235772_ChIP-Seq_MCF-7_Human2.01558308
36NFE2_27457419_Chip-Seq_LIVER_Mouse2.01532159
37* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.98947931
38* POU5F1_16153702_ChIP-ChIP_HESCs_Human1.98517315
39SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.97932134
40P300_19829295_ChIP-Seq_ESCs_Human1.97623494
41* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.96682165
42EZH2_27304074_Chip-Seq_ESCs_Mouse1.95695058
43ATF3_27146783_Chip-Seq_COLON_Human1.91765938
44RNF2_27304074_Chip-Seq_NSC_Mouse1.91651719
45GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.91305973
46TAF15_26573619_Chip-Seq_HEK293_Human1.89729547
47RACK7_27058665_Chip-Seq_MCF-7_Human1.86810718
48PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.84469425
49EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.84239035
50CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.82543541
51PCGF2_27294783_Chip-Seq_NPCs_Mouse1.81335922
52FUS_26573619_Chip-Seq_HEK293_Human1.81292673
53CJUN_26792858_Chip-Seq_BT549_Human1.79906133
54PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.78802084
55UBF1/2_26484160_Chip-Seq_HMECs_Human1.78319330
56KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.77677526
57CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.77347871
58EZH2_27294783_Chip-Seq_NPCs_Mouse1.77037824
59EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.75755162
60VDR_22108803_ChIP-Seq_LS180_Human1.74416050
61SUZ12_18555785_Chip-Seq_ESCs_Mouse1.73168867
62* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.72778573
63ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.71730524
64E2F1_18555785_Chip-Seq_ESCs_Mouse1.71357947
65STAT3_18555785_Chip-Seq_ESCs_Mouse1.71073194
66TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.70633825
67P300_27058665_Chip-Seq_ZR-75-30cells_Human1.70426891
68POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.70099070
69HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.69325443
70* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.69203568
71TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.68905962
72JARID2_20064375_ChIP-Seq_MESCs_Mouse1.66933281
73P53_22387025_ChIP-Seq_ESCs_Mouse1.66128110
74NANOG_18555785_Chip-Seq_ESCs_Mouse1.66036985
75IRF1_19129219_ChIP-ChIP_H3396_Human1.64507005
76EWS_26573619_Chip-Seq_HEK293_Human1.64055066
77WT1_19549856_ChIP-ChIP_CCG9911_Human1.61296616
78CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.60741476
79IRF8_21731497_ChIP-ChIP_J774_Mouse1.60421323
80NMYC_18555785_Chip-Seq_ESCs_Mouse1.59908348
81EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.57572319
82* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.57284596
83TP53_22127205_ChIP-Seq_IMR90_Human1.56860336
84* SMAD_19615063_ChIP-ChIP_OVARY_Human1.56533756
85* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.55116621
86KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.54230216
87SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.53381092
88UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.53267985
89ESR1_15608294_ChIP-ChIP_MCF-7_Human1.52607039
90CMYC_18555785_Chip-Seq_ESCs_Mouse1.51097492
91MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.51006957
92* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.48868414
93* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.48548945
94* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.48078269
95CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.46947966
96P300_18555785_Chip-Seq_ESCs_Mouse1.46428462
97JARID2_20075857_ChIP-Seq_MESCs_Mouse1.46193750
98RUNX1_27457419_Chip-Seq_LIVER_Mouse1.45055074
99ELF1_17652178_ChIP-ChIP_JURKAT_Human1.44510074
100SOX2_18555785_Chip-Seq_ESCs_Mouse1.44137127
101TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.42974878
102EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.42220959
103ER_23166858_ChIP-Seq_MCF-7_Human1.41217117
104CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.40791604
105ZFX_18555785_Chip-Seq_ESCs_Mouse1.40235320
106OCT4_18555785_Chip-Seq_ESCs_Mouse1.38362333
107* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.37989551
108* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.37259791
109MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.36160475
110* SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.36159313
111PU1_27457419_Chip-Seq_LIVER_Mouse1.34967884
112MYC_18555785_ChIP-Seq_MESCs_Mouse1.34527575
113KLF4_18555785_ChIP-Seq_MESCs_Mouse1.34399965
114MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.34363354
115KLF4_18555785_Chip-Seq_ESCs_Mouse1.32769245
116KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.32186627
117PIAS1_25552417_ChIP-Seq_VCAP_Human1.31786388
118SMAD4_21799915_ChIP-Seq_A2780_Human1.31706682
119NELFA_20434984_ChIP-Seq_ESCs_Mouse1.30313700
120* SMAD3_21741376_ChIP-Seq_EPCs_Human1.29925899
121TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.28946767
122STAT6_21828071_ChIP-Seq_BEAS2B_Human1.28612891
123CTBP2_25329375_ChIP-Seq_LNCAP_Human1.28245833
124EZH2_18974828_ChIP-Seq_MESCs_Mouse1.27283552
125RNF2_18974828_ChIP-Seq_MESCs_Mouse1.27283552
126IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.27261341
127ZFX_18555785_ChIP-Seq_MESCs_Mouse1.26621848
128SMC1_22415368_ChIP-Seq_MEFs_Mouse1.26275933
129* TAL1_26923725_Chip-Seq_HPCs_Mouse1.26259988
130* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.26158333
131CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.25647695
132IGF1R_20145208_ChIP-Seq_DFB_Human1.25227085
133* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.25145899
134ESRRB_18555785_Chip-Seq_ESCs_Mouse1.24822333
135DCP1A_22483619_ChIP-Seq_HELA_Human1.24449427
136* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.24448972
137NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.24056300
138RNF2_27304074_Chip-Seq_ESCs_Mouse1.24010016
139NOTCH1_21737748_ChIP-Seq_TLL_Human1.22953414
140* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.21464369
141FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.21227759
142IRF8_22096565_ChIP-ChIP_GC-B_Human1.19619631
143CTCF_18555785_Chip-Seq_ESCs_Mouse1.17977995
144* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.17857589
145* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.17297821
146NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.16951918
147SMAD1_18555785_Chip-Seq_ESCs_Mouse1.16950236
148SOX9_24532713_ChIP-Seq_HFSC_Mouse1.16323408
149NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.15944421
150IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.15433823
151EP300_21415370_ChIP-Seq_HL-1_Mouse1.15060103
152CRX_20693478_ChIP-Seq_RETINA_Mouse1.14054020
153CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.14023714
154VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.13735822
155NANOG_18555785_ChIP-Seq_MESCs_Mouse1.13636814
156P63_26484246_Chip-Seq_KERATINOCYTES_Human1.12783782
157E2F7_22180533_ChIP-Seq_HELA_Human1.11955328
158GATA2_21666600_ChIP-Seq_HMVEC_Human1.11687921
159HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.11558856
160SOX2_20726797_ChIP-Seq_SW620_Human1.11384693
161* TP53_18474530_ChIP-ChIP_U2OS_Human1.10948848
162HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.10255432
163* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.07924202
164SMC3_22415368_ChIP-Seq_MEFs_Mouse1.06950551
165TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.06826033
166E2F1_18555785_ChIP-Seq_MESCs_Mouse1.06049747
167TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.05781690
168OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.05457065
169EZH2_27294783_Chip-Seq_ESCs_Mouse1.05384661
170* EOMES_21245162_ChIP-Seq_HESCs_Human1.05134317
171* ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.04723401
172OCT4_21477851_ChIP-Seq_ESCs_Mouse1.04609842
173PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.04255493
174SALL1_21062744_ChIP-ChIP_HESCs_Human1.03846066
175TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.03113447
176SRF_21415370_ChIP-Seq_HL-1_Mouse1.02997391
177SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.02640359
178SOX17_20123909_ChIP-Seq_XEN_Mouse1.02409439
179CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.02322713
180SALL4_18804426_ChIP-ChIP_XEN_Mouse1.01091466
181ESR1_20079471_ChIP-ChIP_T-47D_Human0.99215382
182MYC_18358816_ChIP-ChIP_MESCs_Mouse0.99191791
183RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.98712170
184EGR1_19374776_ChIP-ChIP_THP-1_Human0.98069714
185ELK1_22589737_ChIP-Seq_MCF10A_Human0.97956844
186PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.97791189
187SA1_22415368_ChIP-Seq_MEFs_Mouse0.97207975
188CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.95906570
189STAT3_1855785_ChIP-Seq_MESCs_Mouse0.95505873
190NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.95447614
191NRF2_20460467_ChIP-Seq_MEFs_Mouse0.95447614
192ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.93838510
193SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.93028844
194MYC_19030024_ChIP-ChIP_MESCs_Mouse0.92841260
195MYC_19079543_ChIP-ChIP_MESCs_Mouse0.92701271
196TP53_23651856_ChIP-Seq_MEFs_Mouse0.92077930
197CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.91467808
198NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.89995114

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen6.16551128
2MP0003705_abnormal_hypodermis_morpholog4.52337357
3MP0001188_hyperpigmentation3.94917817
4MP0004272_abnormal_basement_membrane3.80731712
5MP0005171_absent_coat_pigmentation3.41113700
6MP0002638_abnormal_pupillary_reflex3.08502365
7MP0003566_abnormal_cell_adhesion3.04494650
8MP0001958_emphysema2.95422998
9MP0000566_synostosis2.88221322
10MP0005275_abnormal_skin_tensile2.85173278
11MP0003950_abnormal_plasma_membrane2.70486311
12MP0005646_abnormal_pituitary_gland2.53501751
13MP0003279_aneurysm2.51183650
14MP0001542_abnormal_bone_strength2.48891192
15MP0009384_cardiac_valve_regurgitation2.47138450
16MP0005645_abnormal_hypothalamus_physiol2.39435361
17MP0009780_abnormal_chondrocyte_physiolo2.37605730
18MP0005623_abnormal_meninges_morphology2.37582014
19MP0010386_abnormal_urinary_bladder2.37495149
20MP0002277_abnormal_respiratory_mucosa2.34035815
21* MP0006292_abnormal_olfactory_placode2.32251035
22MP0006054_spinal_hemorrhage2.31891885
23MP0005023_abnormal_wound_healing2.29397693
24MP0002102_abnormal_ear_morphology2.24536345
25MP0003941_abnormal_skin_development2.24421239
26MP0002822_catalepsy2.20087530
27MP0002060_abnormal_skin_morphology2.17757537
28MP0000372_irregular_coat_pigmentation2.14516548
29MP0002132_abnormal_respiratory_system2.14176302
30MP0002938_white_spotting2.09719449
31MP0002877_abnormal_melanocyte_morpholog2.04869418
32MP0009697_abnormal_copulation2.03939283
33MP0003122_maternal_imprinting1.93838852
34MP0003091_abnormal_cell_migration1.91009245
35MP0001986_abnormal_taste_sensitivity1.89739446
36MP0010368_abnormal_lymphatic_system1.83275785
37MP0000751_myopathy1.81825246
38MP0003787_abnormal_imprinting1.79210084
39MP0010352_gastrointestinal_tract_polyps1.79074554
40MP0008260_abnormal_autophagy1.78645952
41MP0000678_abnormal_parathyroid_gland1.75727502
42MP0001529_abnormal_vocalization1.73920313
43MP0009053_abnormal_anal_canal1.73285088
44MP0003191_abnormal_cellular_cholesterol1.72762146
45MP0003136_yellow_coat_color1.71195932
46MP0002876_abnormal_thyroid_physiology1.68854138
47MP0000049_abnormal_middle_ear1.67260086
48MP0000015_abnormal_ear_pigmentation1.66433374
49MP0006276_abnormal_autonomic_nervous1.64119496
50MP0005084_abnormal_gallbladder_morpholo1.63475813
51MP0000681_abnormal_thyroid_gland1.61876919
52MP0003121_genomic_imprinting1.61204029
53MP0002751_abnormal_autonomic_nervous1.60335667
54MP0001348_abnormal_lacrimal_gland1.60277472
55MP0008058_abnormal_DNA_repair1.59497690
56MP0005508_abnormal_skeleton_morphology1.55938877
57MP0000534_abnormal_ureter_morphology1.55921155
58MP0000537_abnormal_urethra_morphology1.54852425
59MP0005377_hearing/vestibular/ear_phenot1.54239814
60MP0003878_abnormal_ear_physiology1.54239814
61MP0001243_abnormal_dermal_layer1.53412340
62MP0002163_abnormal_gland_morphology1.52005920
63MP0000516_abnormal_urinary_system1.49094805
64MP0005367_renal/urinary_system_phenotyp1.49094805
65MP0002295_abnormal_pulmonary_circulatio1.47521919
66MP0004782_abnormal_surfactant_physiolog1.46994482
67MP0000767_abnormal_smooth_muscle1.45722712
68MP0002249_abnormal_larynx_morphology1.43087171
69MP0001299_abnormal_eye_distance/1.41524495
70MP0002896_abnormal_bone_mineralization1.41353941
71MP0008789_abnormal_olfactory_epithelium1.36406793
72MP0000749_muscle_degeneration1.35794691
73MP0005248_abnormal_Harderian_gland1.35425003
74MP0000013_abnormal_adipose_tissue1.32180288
75MP0002148_abnormal_hypersensitivity_rea1.29647299
76MP0003890_abnormal_embryonic-extraembry1.27663195
77MP0005394_taste/olfaction_phenotype1.27038007
78MP0005499_abnormal_olfactory_system1.27038007
79MP0003385_abnormal_body_wall1.25338751
80MP0000467_abnormal_esophagus_morphology1.23425258
81MP0001835_abnormal_antigen_presentation1.23237150
82MP0005197_abnormal_uvea_morphology1.22537946
83MP0005671_abnormal_response_to1.22418138
84MP0010030_abnormal_orbit_morphology1.22327657
85MP0004233_abnormal_muscle_weight1.21082467
86MP0002160_abnormal_reproductive_system1.20515659
87MP0000733_abnormal_muscle_development1.17845392
88MP0001905_abnormal_dopamine_level1.17480030
89MP0000003_abnormal_adipose_tissue1.17238545
90MP0002735_abnormal_chemical_nociception1.13334430
91MP0004381_abnormal_hair_follicle1.13133525
92MP0005076_abnormal_cell_differentiation1.12771526
93MP0008877_abnormal_DNA_methylation1.09432988
94MP0004858_abnormal_nervous_system1.09205433
95MP0001849_ear_inflammation1.08238999
96MP0005501_abnormal_skin_physiology1.07415987
97MP0003938_abnormal_ear_development1.07137301
98MP0005075_abnormal_melanosome_morpholog1.04785238
99MP0002108_abnormal_muscle_morphology1.04404762
100MP0000026_abnormal_inner_ear1.04133542
101MP0005503_abnormal_tendon_morphology1.04029487
102MP0002177_abnormal_outer_ear1.03747634
103MP0009785_altered_susceptibility_to1.03722181
104MP0004742_abnormal_vestibular_system1.02903312
105MP0009250_abnormal_appendicular_skeleto1.02146399
106MP0008007_abnormal_cellular_replicative0.99808206
107MP0000538_abnormal_urinary_bladder0.99548389
108MP0000762_abnormal_tongue_morphology0.99095425
109MP0004185_abnormal_adipocyte_glucose0.97822355
110MP0000631_abnormal_neuroendocrine_gland0.95717846
111MP0005164_abnormal_response_to0.95130808
112MP0010234_abnormal_vibrissa_follicle0.93703813
113MP0001984_abnormal_olfaction0.93509608
114MP0009745_abnormal_behavioral_response0.92702879
115MP0003942_abnormal_urinary_system0.92579435
116MP0005389_reproductive_system_phenotype0.92542512
117MP0003880_abnormal_central_pattern0.91721279
118MP0002127_abnormal_cardiovascular_syste0.91321179
119MP0002095_abnormal_skin_pigmentation0.91040136
120MP0005360_urolithiasis0.90220538
121MP0000759_abnormal_skeletal_muscle0.90020318
122MP0005595_abnormal_vascular_smooth0.89458296
123MP0000428_abnormal_craniofacial_morphol0.89309951
124MP0002233_abnormal_nose_morphology0.88888854
125MP0005390_skeleton_phenotype0.88131750
126MP0000858_altered_metastatic_potential0.87950044
127MP0001216_abnormal_epidermal_layer0.87232017
128MP0000750_abnormal_muscle_regeneration0.86274448
129MP0000163_abnormal_cartilage_morphology0.84480502
130MP0000579_abnormal_nail_morphology0.84421649
131MP0001486_abnormal_startle_reflex0.84380462
132MP0009840_abnormal_foam_cell0.83730611
133MP0005193_abnormal_anterior_eye0.82940255
134MP0008932_abnormal_embryonic_tissue0.82926973
135MP0008004_abnormal_stomach_pH0.82803944
136MP0005165_increased_susceptibility_to0.81965858
137MP0003943_abnormal_hepatobiliary_system0.81870219
138MP0002736_abnormal_nociception_after0.81786340
139MP0000627_abnormal_mammary_gland0.81662789
140MP0001346_abnormal_lacrimal_gland0.80897775
141MP0010771_integument_phenotype0.80859683
142MP0003315_abnormal_perineum_morphology0.80541338
143MP0004510_myositis0.80324414
144MP0000778_abnormal_nervous_system0.80103271
145MP0001340_abnormal_eyelid_morphology0.79678386
146MP0002796_impaired_skin_barrier0.78632784
147MP0001502_abnormal_circadian_rhythm0.78313563
148* MP0003937_abnormal_limbs/digits/tail_de0.78084458
149MP0003786_premature_aging0.77095333
150MP0001915_intracranial_hemorrhage0.77056643
151MP0001963_abnormal_hearing_physiology0.76841550
152MP0002557_abnormal_social/conspecific_i0.76491497
153MP0008057_abnormal_DNA_replication0.76447806
154MP0005423_abnormal_somatic_nervous0.75905785
155MP0005621_abnormal_cell_physiology0.75789121
156MP0005174_abnormal_tail_pigmentation0.75686083
157MP0003755_abnormal_palate_morphology0.75552621
158MP0001119_abnormal_female_reproductive0.75074737
159MP0005257_abnormal_intraocular_pressure0.75050719
160MP0010094_abnormal_chromosome_stability0.74575769
161MP0002089_abnormal_postnatal_growth/wei0.73813449
162MP0005409_darkened_coat_color0.73770973
163MP0001501_abnormal_sleep_pattern0.73484225
164* MP0002116_abnormal_craniofacial_bone0.73312816
165MP0002332_abnormal_exercise_endurance0.72832283
166MP0002234_abnormal_pharynx_morphology0.72784049
167MP0000613_abnormal_salivary_gland0.72035205
168MP0002113_abnormal_skeleton_development0.71989383
169MP0002572_abnormal_emotion/affect_behav0.71972825
170MP0004133_heterotaxia0.71732893
171MP0001186_pigmentation_phenotype0.71442769
172* MP0002109_abnormal_limb_morphology0.71281930
173* MP0000432_abnormal_head_morphology0.70471932
174MP0002282_abnormal_trachea_morphology0.69137394
175MP0002932_abnormal_joint_morphology0.68641680
176MP0003448_altered_tumor_morphology0.68445700
177MP0001881_abnormal_mammary_gland0.67983005
178MP0002115_abnormal_skeleton_extremities0.67594777
179MP0002128_abnormal_blood_circulation0.67413662
180MP0002114_abnormal_axial_skeleton0.66952056
181MP0003453_abnormal_keratinocyte_physiol0.65965320
182MP0001879_abnormal_lymphatic_vessel0.65566848
183MP0003115_abnormal_respiratory_system0.64884234
184MP0001614_abnormal_blood_vessel0.64592104
185* MP0003935_abnormal_craniofacial_develop0.63100738
186MP0002111_abnormal_tail_morphology0.61020618
187MP0002925_abnormal_cardiovascular_devel0.59489855

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)7.29156589
2Protrusio acetabuli (HP:0003179)5.82560328
3Chromosomal breakage induced by crosslinking agents (HP:0003221)4.69696065
4Atrophic scars (HP:0001075)4.33704929
5Chromsome breakage (HP:0040012)4.24016391
6Hypothermia (HP:0002045)4.17332720
7Aortic dissection (HP:0002647)4.06498213
8Vascular tortuosity (HP:0004948)4.04930363
9Ankle contracture (HP:0006466)3.85305367
10Aortic aneurysm (HP:0004942)3.83594751
11Fragile skin (HP:0001030)3.72278307
12Cervical subluxation (HP:0003308)3.70454958
13Abnormality of the renal collecting system (HP:0004742)3.60215188
14Short nail (HP:0001799)3.52837606
15Arterial tortuosity (HP:0005116)3.51106084
16Duplicated collecting system (HP:0000081)3.49976784
17Septo-optic dysplasia (HP:0100842)3.46750740
18Parakeratosis (HP:0001036)3.43762822
19Vertebral compression fractures (HP:0002953)3.27227400
20Soft skin (HP:0000977)3.26969987
21Bladder diverticulum (HP:0000015)3.24408368
22Spinal rigidity (HP:0003306)3.23901781
23Wormian bones (HP:0002645)3.11734312
24Patchy hypopigmentation of hair (HP:0011365)3.06755676
25White forelock (HP:0002211)3.05875438
26Reduced subcutaneous adipose tissue (HP:0003758)3.02595473
27Prostate neoplasm (HP:0100787)3.01392690
28Osteolytic defects of the phalanges of the hand (HP:0009771)3.00732524
29Osteolytic defects of the hand bones (HP:0009699)3.00732524
30Follicular hyperkeratosis (HP:0007502)2.95938476
31Abnormality of dentin (HP:0010299)2.90686758
32Abnormal hair whorl (HP:0010721)2.85488143
33Entropion (HP:0000621)2.82390388
34Ectopic kidney (HP:0000086)2.79722207
35Ulnar bowing (HP:0003031)2.79153696
36Neonatal short-limb short stature (HP:0008921)2.76601454
37Shallow orbits (HP:0000586)2.75153934
38Febrile seizures (HP:0002373)2.73244875
39Spondylolisthesis (HP:0003302)2.72432986
40Elbow flexion contracture (HP:0002987)2.70869846
41Optic nerve hypoplasia (HP:0000609)2.67769854
42True hermaphroditism (HP:0010459)2.65468761
43Dilatation of the ascending aorta (HP:0005111)2.65242021
44Abnormality of carpal bone ossification (HP:0006257)2.65230169
45Congenital sensorineural hearing impairment (HP:0008527)2.60113054
46Absent eyebrow (HP:0002223)2.59666177
47Blue sclerae (HP:0000592)2.59650277
48Type I transferrin isoform profile (HP:0003642)2.59061239
49Recurrent corneal erosions (HP:0000495)2.58801654
50Renal dysplasia (HP:0000110)2.56225042
51Mitral regurgitation (HP:0001653)2.55895667
52Cardiovascular calcification (HP:0011915)2.54701514
53Abnormality of the acetabulum (HP:0003170)2.52813108
54Mildly elevated creatine phosphokinase (HP:0008180)2.51754637
55Genu recurvatum (HP:0002816)2.51697158
56Duplication of thumb phalanx (HP:0009942)2.51584611
57Type 1 muscle fiber predominance (HP:0003803)2.50164597
58Thyroid-stimulating hormone excess (HP:0002925)2.50007246
59Abnormality of incisor morphology (HP:0011063)2.49367060
60Spinal cord compression (HP:0002176)2.48665611
61Abnormal delivery (HP:0001787)2.48659178
62Distal lower limb muscle weakness (HP:0009053)2.45845257
63Increased connective tissue (HP:0009025)2.45355422
64Pancreatic fibrosis (HP:0100732)2.44821134
65Microglossia (HP:0000171)2.44612504
66Abnormality of the distal phalanges of the toes (HP:0010182)2.42732244
67Aplasia cutis congenita (HP:0001057)2.42707360
68Coronal craniosynostosis (HP:0004440)2.39187203
69Bowel diverticulosis (HP:0005222)2.38453482
70Abnormal ossification of hand bones (HP:0005921)2.35784986
71Meckel diverticulum (HP:0002245)2.35557388
72Type 2 muscle fiber atrophy (HP:0003554)2.35271150
73Conical tooth (HP:0000698)2.35178759
74Achilles tendon contracture (HP:0001771)2.34399116
75Absent frontal sinuses (HP:0002688)2.31745042
76Unilateral renal agenesis (HP:0000122)2.31106610
77Preaxial hand polydactyly (HP:0001177)2.30712752
78Generalized amyotrophy (HP:0003700)2.28583235
79Abnormality of the ileum (HP:0001549)2.28191743
80Rough bone trabeculation (HP:0100670)2.28100864
81Aplasia/Hypoplasia of the uvula (HP:0010293)2.27360123
82Absent septum pellucidum (HP:0001331)2.27210968
83Natal tooth (HP:0000695)2.26169446
84Broad face (HP:0000283)2.25657513
85Retrobulbar optic neuritis (HP:0100654)2.23738508
86Optic neuritis (HP:0100653)2.23738508
87Joint laxity (HP:0001388)2.22854946
88Dynein arm defect of respiratory motile cilia (HP:0012255)2.21405894
89Absent/shortened dynein arms (HP:0200106)2.21405894
90Slender build (HP:0001533)2.21207922
91Abnormality of DNA repair (HP:0003254)2.20860513
92Alveolar cell carcinoma (HP:0006519)2.20191234
93Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.20141153
94Glucose intolerance (HP:0000833)2.20127219
95Occipital encephalocele (HP:0002085)2.19920841
96Distal lower limb amyotrophy (HP:0008944)2.19334334
97Prolonged neonatal jaundice (HP:0006579)2.18770885
98Aortic regurgitation (HP:0001659)2.18323163
99Hyperacusis (HP:0010780)2.15508708
100Mitral stenosis (HP:0001718)2.15494786
101Abnormality of dental color (HP:0011073)2.15348044
102Spinal cord lesions (HP:0100561)2.15269431
103Syringomyelia (HP:0003396)2.15269431
104Clubbing of toes (HP:0100760)2.15030980
105Peritonitis (HP:0002586)2.14406888
106Neonatal hypoglycemia (HP:0001998)2.14173560
107Abnormality of the septum pellucidum (HP:0007375)2.14169150
108Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.13103044
109Chronic hepatic failure (HP:0100626)2.11872092
110Sparse lateral eyebrow (HP:0005338)2.10264601
111Biconcave vertebral bodies (HP:0004586)2.09399041
112Abnormality of the preputium (HP:0100587)2.08312033
113Bowing of the arm (HP:0006488)2.06059220
114Bowed forearm bones (HP:0003956)2.06059220
115Renal duplication (HP:0000075)2.05833871
116Abnormality of the Achilles tendon (HP:0005109)2.05486230
117Aplasia/Hypoplasia of the tibia (HP:0005772)2.05186075
118Abnormality of the umbilical cord (HP:0010881)2.04203018
119Short clavicles (HP:0000894)2.03720682
120Osteomalacia (HP:0002749)2.02356036
121Hyperextensible skin (HP:0000974)2.00639782
122Cheilitis (HP:0100825)1.99503578
123Mitral valve prolapse (HP:0001634)1.99203673
124Abnormality of the parietal bone (HP:0002696)1.98926295
125Redundant skin (HP:0001582)1.98199878
126Distal upper limb amyotrophy (HP:0007149)1.97276023
127Upper limb amyotrophy (HP:0009129)1.97276023
128Postaxial foot polydactyly (HP:0001830)1.97063344
129Vascular calcification (HP:0004934)1.95838580
130Nasolacrimal duct obstruction (HP:0000579)1.95317124
131Abnormality of the nasolacrimal system (HP:0000614)1.95089581
132Breech presentation (HP:0001623)1.94048411
133Broad metatarsal (HP:0001783)1.93617521
134Radial bowing (HP:0002986)1.91664565
135Abnormal hand bone ossification (HP:0010660)1.90843131
136Aplasia/Hypoplasia of the clavicles (HP:0006710)1.90174386
137Oligohydramnios (HP:0001562)1.90174161
138Deviation of the hallux (HP:0010051)1.89940001
139Delayed cranial suture closure (HP:0000270)1.89189104
140Pancreatic cysts (HP:0001737)1.88991375
141Recurrent pneumonia (HP:0006532)1.88076618
142Trismus (HP:0000211)1.87439695
143Insomnia (HP:0100785)1.87222128
144Abnormality of the incisor (HP:0000676)1.85770171
145Aplasia of the musculature (HP:0100854)1.85496267
146Hypoplastic heart (HP:0001961)1.84782480
147Neoplasm of the tracheobronchial system (HP:0100552)1.84590029
148Muscle fiber atrophy (HP:0100295)1.84502649
149Stomach cancer (HP:0012126)1.84317026
150Abnormality of the lacrimal duct (HP:0011481)1.84206976
151Medial flaring of the eyebrow (HP:0010747)1.83989953
152Wide anterior fontanel (HP:0000260)1.83955689
153Coxa vara (HP:0002812)1.82994451
154Aortic valve stenosis (HP:0001650)1.82937440
155Hypoplasia of the fovea (HP:0007750)1.82005321
156Aplasia/Hypoplasia of the fovea (HP:0008060)1.82005321
157Triphalangeal thumb (HP:0001199)1.79540970
158Metaphyseal dysplasia (HP:0100255)1.79512479
159Nephrogenic diabetes insipidus (HP:0009806)1.78938120
160Hallux valgus (HP:0001822)1.77258365
161Morphological abnormality of the middle ear (HP:0008609)1.76965193
162Deviation of the thumb (HP:0009603)1.76788510
163Flat acetabular roof (HP:0003180)1.76606634
164Severe visual impairment (HP:0001141)1.76017884
165Short tibia (HP:0005736)1.74999540
166Long toe (HP:0010511)1.74406779
167Tubulointerstitial nephritis (HP:0001970)1.73571500
168Disproportionate tall stature (HP:0001519)1.73390371
169Aneurysm (HP:0002617)1.73116446
170Abnormality of chromosome stability (HP:0003220)1.72507110
171Recurrent abscess formation (HP:0002722)1.71326403
172Thin skin (HP:0000963)1.70182663
173Increased IgM level (HP:0003496)1.69066948
174Optic nerve coloboma (HP:0000588)1.68871512
175Abnormality of the frontal sinuses (HP:0002687)1.68135321
176Abnormality of the phalanges of the hallux (HP:0010057)1.67529049
177Tibial bowing (HP:0002982)1.66978771
178Intestinal atresia (HP:0011100)1.66398858
179Abnormality of molar morphology (HP:0011070)1.66214737
180Abnormality of molar (HP:0011077)1.66214737
181Aganglionic megacolon (HP:0002251)1.65380973
182Limb dystonia (HP:0002451)1.64702443
183Chorioretinal coloboma (HP:0000567)1.62771047
184Nephronophthisis (HP:0000090)1.62764981
185Renal agenesis (HP:0000104)1.61343252
186Periauricular skin pits (HP:0100277)1.60351132
187Preauricular pit (HP:0004467)1.60351132
188Hypergonadotropic hypogonadism (HP:0000815)1.60257634
189Reduced antithrombin III activity (HP:0001976)1.60241304
190Dry hair (HP:0011359)1.60232243
191Asymmetry of the thorax (HP:0001555)1.59714979
192Birth length less than 3rd percentile (HP:0003561)1.59687140
193Abnormality of the prostate (HP:0008775)1.59162831
194Hypoplastic left heart (HP:0004383)1.58679227
195Heterochromia iridis (HP:0001100)1.58461683
1963-Methylglutaconic aciduria (HP:0003535)1.58389703
197Median cleft lip (HP:0000161)1.57940950
198Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.57215527

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK4.38861715
2SIK33.97640033
3MST1R3.72313547
4PRPF4B3.51935243
5TESK12.76295636
6LIMK12.74773445
7ZAK2.72671848
8TXK2.70028438
9STK162.59976925
10PAK42.57351009
11TRIB32.55870227
12MAP3K142.53580196
13PTK22.48097232
14MET2.43516473
15PDGFRA2.37632040
16AKT32.36520772
17NME22.28967651
18TTN2.22353769
19YES12.18934728
20SIK12.18879802
21PLK42.11295190
22MAP2K72.04259029
23IRAK42.01762060
24LMTK21.99123181
25ERBB41.97055229
26BMPR1B1.73620357
27MKNK21.68137280
28BMPR21.66400521
29MAP3K121.63799411
30LATS21.59099378
31ILK1.58361702
32EIF2AK21.57670630
33SCYL21.55093843
34INSRR1.54746752
35DDR21.53493286
36SGK21.52230021
37TNIK1.50264008
38MKNK11.47296821
39GRK71.45108866
40PAK21.43158559
41TAOK21.43080642
42SRPK11.40181018
43STK38L1.39244685
44IRAK31.39002139
45NEK61.37806575
46ADRBK21.37348081
47NTRK11.35505557
48MAP3K31.35096481
49ERBB31.32353154
50BRD41.30888686
51MAPK131.29381440
52VRK11.27560139
53CCNB11.26512951
54CDK31.25378578
55ARAF1.25258938
56SMG11.25254278
57CDK81.24910875
58PKN21.24240407
59EPHB11.21651566
60ICK1.19153450
61TSSK61.16469418
62STK381.10795891
63MUSK1.06684503
64LATS11.06634074
65TGFBR21.05909814
66SGK2231.04334628
67SGK4941.04334628
68TESK21.04267021
69RIPK11.02827751
70NUAK10.99006670
71PRKD20.98359808
72ABL20.98028756
73ERN10.97289747
74PLK20.97243739
75MOS0.94902513
76IKBKB0.93775805
77BLK0.93021331
78TRPM70.90375254
79BRAF0.89467905
80BCR0.87347083
81PLK30.86336146
82ACVR1B0.84837934
83ROCK20.81837945
84PTK2B0.79681444
85FLT30.79546531
86EIF2AK30.78910620
87PIM20.77004461
88PRKCE0.75419031
89PBK0.74212199
90TEC0.72148706
91NLK0.71015024
92CHUK0.70352445
93MTOR0.69915179
94MAPKAPK30.69102145
95MAP2K30.68755130
96STK100.68633043
97STK240.68002918
98NEK10.67686001
99MAPK70.67460874
100WNK30.67401083
101BRSK10.65782755
102PTK60.65598790
103ROCK10.65473249
104MAP2K10.64518360
105PINK10.64325438
106IKBKE0.63429236
107CAMK2G0.62529041
108DYRK20.61566173
109MELK0.61482126
110EIF2AK10.60448834
111CLK10.60053439
112MARK30.59179939
113MYLK0.59063755
114SIK20.57513601
115ATR0.55957601
116BUB10.55768097
117PDGFRB0.55718331
118SGK30.55330072
119PAK60.55018355
120PAK10.52895609
121DAPK30.50668160
122PRKG20.50454355
123GSK3A0.50427444
124AURKB0.49014205
125RPS6KB20.48762878
126NEK20.48717195
127BMX0.47933538
128MAP3K80.47756195
129DMPK0.47642663
130PRKCI0.47354151
131GRK10.46832477
132MATK0.46459772
133AURKA0.46101697
134PKN10.45868048
135IRAK20.45450560
136EPHB20.45135156
137MAP3K60.44780771
138NTRK30.44625229
139ADRBK10.44134936
140OBSCN0.44104109
141EPHA20.43784924
142JAK30.41942948
143NEK90.41344633
144TIE10.41138654
145PIM10.39830495
146RAF10.38531753
147IRAK10.38517839
148KIT0.38479922
149NTRK20.38272419
150MAPKAPK20.37923858
151FGFR40.37840878
152LYN0.37538625
153DYRK1A0.37305979
154TNK20.36427356
155MAP2K60.35151839
156MAP3K90.34697156
157RPS6KA20.33624514
158CSNK1A1L0.33537601
159CAMK2D0.33219927
160LRRK20.32887635
161SYK0.32718671
162MST40.32486592
163RPS6KA40.31590547
164RPS6KB10.30952280
165CSNK2A10.29665306
166CDK70.28626859
167PLK10.27290744
168FGFR10.27191635
169CSNK1G30.26635885
170RPS6KA60.26003217
171PRKG10.25870914
172CHEK20.25865908
173CAMK2B0.25712339
174MAP3K130.25507995
175BRSK20.24936795
176WEE10.24905591
177CDC42BPA0.24707451

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045123.10172161
2Focal adhesion_Homo sapiens_hsa045102.71394305
3Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.68959187
4Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.48465823
5Fanconi anemia pathway_Homo sapiens_hsa034602.48383346
6Proteoglycans in cancer_Homo sapiens_hsa052052.34641274
7Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.34236678
8Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005342.32860090
9Homologous recombination_Homo sapiens_hsa034402.31885957
10Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.31467279
11Allograft rejection_Homo sapiens_hsa053302.13509438
12Autoimmune thyroid disease_Homo sapiens_hsa053202.12566436
13Graft-versus-host disease_Homo sapiens_hsa053322.11751047
14Proteasome_Homo sapiens_hsa030502.09315792
15Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.00591012
16SNARE interactions in vesicular transport_Homo sapiens_hsa041301.94562347
17Small cell lung cancer_Homo sapiens_hsa052221.92988282
18Hippo signaling pathway_Homo sapiens_hsa043901.92329976
19RNA polymerase_Homo sapiens_hsa030201.90175617
20Bladder cancer_Homo sapiens_hsa052191.76775717
21Basal transcription factors_Homo sapiens_hsa030221.76277420
22Adherens junction_Homo sapiens_hsa045201.75001418
23Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.72603708
24Rheumatoid arthritis_Homo sapiens_hsa053231.68697446
25Nicotine addiction_Homo sapiens_hsa050331.67513849
26Central carbon metabolism in cancer_Homo sapiens_hsa052301.67508464
27Intestinal immune network for IgA production_Homo sapiens_hsa046721.64263032
28NF-kappa B signaling pathway_Homo sapiens_hsa040641.63718114
29Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.62963943
30Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.62817150
31Regulation of actin cytoskeleton_Homo sapiens_hsa048101.60037357
32N-Glycan biosynthesis_Homo sapiens_hsa005101.54794292
33Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.52594670
34Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.50626627
35Base excision repair_Homo sapiens_hsa034101.50104525
36DNA replication_Homo sapiens_hsa030301.47955383
37TGF-beta signaling pathway_Homo sapiens_hsa043501.44155812
38Thyroid cancer_Homo sapiens_hsa052161.39137377
39Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.38402219
40Shigellosis_Homo sapiens_hsa051311.37034419
41Asthma_Homo sapiens_hsa053101.35679266
42Chronic myeloid leukemia_Homo sapiens_hsa052201.34035205
43Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.33781439
44Nucleotide excision repair_Homo sapiens_hsa034201.29821554
45Glycosaminoglycan degradation_Homo sapiens_hsa005311.29622244
46Arachidonic acid metabolism_Homo sapiens_hsa005901.29545241
47Measles_Homo sapiens_hsa051621.26683489
48Galactose metabolism_Homo sapiens_hsa000521.25822743
49Mismatch repair_Homo sapiens_hsa034301.23681467
50Serotonergic synapse_Homo sapiens_hsa047261.23633715
51Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.23098690
52Type I diabetes mellitus_Homo sapiens_hsa049401.22287362
53Toll-like receptor signaling pathway_Homo sapiens_hsa046201.21012485
54Sulfur relay system_Homo sapiens_hsa041221.20876734
55MicroRNAs in cancer_Homo sapiens_hsa052061.20359149
56RNA degradation_Homo sapiens_hsa030181.19055587
57Other glycan degradation_Homo sapiens_hsa005111.18546425
58Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.18437376
59Pyrimidine metabolism_Homo sapiens_hsa002401.18324618
60NOD-like receptor signaling pathway_Homo sapiens_hsa046211.18323241
61Non-homologous end-joining_Homo sapiens_hsa034501.17468120
62AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.17128073
63PI3K-Akt signaling pathway_Homo sapiens_hsa041511.16709390
64Sphingolipid metabolism_Homo sapiens_hsa006001.16001981
65Purine metabolism_Homo sapiens_hsa002301.15861579
66Pentose phosphate pathway_Homo sapiens_hsa000301.15441462
67Dilated cardiomyopathy_Homo sapiens_hsa054141.15376862
68Amoebiasis_Homo sapiens_hsa051461.14826604
69Hematopoietic cell lineage_Homo sapiens_hsa046401.13648938
70Spliceosome_Homo sapiens_hsa030401.10424036
71Protein digestion and absorption_Homo sapiens_hsa049741.09524471
72Collecting duct acid secretion_Homo sapiens_hsa049661.07462912
73Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.05741427
74Vitamin B6 metabolism_Homo sapiens_hsa007501.05661727
75Primary immunodeficiency_Homo sapiens_hsa053401.05304763
76Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.05112192
77Sulfur metabolism_Homo sapiens_hsa009201.04688095
78Pancreatic cancer_Homo sapiens_hsa052121.04443963
79Pathways in cancer_Homo sapiens_hsa052001.04162028
80Taste transduction_Homo sapiens_hsa047421.03557662
81Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.01436240
82RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.00399894
83Herpes simplex infection_Homo sapiens_hsa051680.97429004
84Basal cell carcinoma_Homo sapiens_hsa052170.96210682
85Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.94868021
86Biosynthesis of amino acids_Homo sapiens_hsa012300.93067442
87Phagosome_Homo sapiens_hsa041450.90790078
88Melanogenesis_Homo sapiens_hsa049160.90334515
89Tight junction_Homo sapiens_hsa045300.89802762
90Steroid biosynthesis_Homo sapiens_hsa001000.88986176
91Glioma_Homo sapiens_hsa052140.88630548
92Leukocyte transendothelial migration_Homo sapiens_hsa046700.87972502
93Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.87701778
94Endocytosis_Homo sapiens_hsa041440.86298172
95Morphine addiction_Homo sapiens_hsa050320.85216740
96Leishmaniasis_Homo sapiens_hsa051400.83487479
97Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.83183762
98Folate biosynthesis_Homo sapiens_hsa007900.81928959
99Fructose and mannose metabolism_Homo sapiens_hsa000510.81690716
100Glutathione metabolism_Homo sapiens_hsa004800.79839619
101African trypanosomiasis_Homo sapiens_hsa051430.79475791
102Ether lipid metabolism_Homo sapiens_hsa005650.79113985
103Regulation of autophagy_Homo sapiens_hsa041400.77569659
104Legionellosis_Homo sapiens_hsa051340.75519032
105Prostate cancer_Homo sapiens_hsa052150.75480095
106Influenza A_Homo sapiens_hsa051640.74264478
107Cell cycle_Homo sapiens_hsa041100.73323578
108Phototransduction_Homo sapiens_hsa047440.73281344
109Melanoma_Homo sapiens_hsa052180.73117966
110Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.70675441
111Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.69921103
1122-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.68054559
113One carbon pool by folate_Homo sapiens_hsa006700.67502415
114Thyroid hormone signaling pathway_Homo sapiens_hsa049190.66494152
115Oxidative phosphorylation_Homo sapiens_hsa001900.66488777
116Gap junction_Homo sapiens_hsa045400.66287893
117Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.66064992
118Salmonella infection_Homo sapiens_hsa051320.65457571
119Renal cell carcinoma_Homo sapiens_hsa052110.64806311
120Synaptic vesicle cycle_Homo sapiens_hsa047210.63991245
121Axon guidance_Homo sapiens_hsa043600.62787895
122Vitamin digestion and absorption_Homo sapiens_hsa049770.62523302
123Endometrial cancer_Homo sapiens_hsa052130.61440445
124Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.61114420
125Rap1 signaling pathway_Homo sapiens_hsa040150.60482817
126ErbB signaling pathway_Homo sapiens_hsa040120.60317084
127Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.59175858
128Prion diseases_Homo sapiens_hsa050200.58226043
129Non-small cell lung cancer_Homo sapiens_hsa052230.58208479
130Transcriptional misregulation in cancer_Homo sapiens_hsa052020.55932045
131Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.55770462
132* Wnt signaling pathway_Homo sapiens_hsa043100.54474658
133Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.52150422
134Epstein-Barr virus infection_Homo sapiens_hsa051690.51531851
135Hepatitis C_Homo sapiens_hsa051600.51402913
136Tyrosine metabolism_Homo sapiens_hsa003500.51368678
137Steroid hormone biosynthesis_Homo sapiens_hsa001400.51116864
138Hepatitis B_Homo sapiens_hsa051610.50352599
139Hedgehog signaling pathway_Homo sapiens_hsa043400.49414118
140Viral carcinogenesis_Homo sapiens_hsa052030.49247977
141Protein export_Homo sapiens_hsa030600.48864136
142TNF signaling pathway_Homo sapiens_hsa046680.48815796
143Ovarian steroidogenesis_Homo sapiens_hsa049130.48419208
144Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.48037029
145Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.47296108
146Vibrio cholerae infection_Homo sapiens_hsa051100.47265834
147Carbon metabolism_Homo sapiens_hsa012000.47214512
148RNA transport_Homo sapiens_hsa030130.47168698
149Tuberculosis_Homo sapiens_hsa051520.46894815
150Pertussis_Homo sapiens_hsa051330.46108050
151p53 signaling pathway_Homo sapiens_hsa041150.45599030
152Linoleic acid metabolism_Homo sapiens_hsa005910.44780070
153Neurotrophin signaling pathway_Homo sapiens_hsa047220.44717515
154Calcium signaling pathway_Homo sapiens_hsa040200.44679918
155Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.44536404
156Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.43775857
157Circadian entrainment_Homo sapiens_hsa047130.43067683
158Lysosome_Homo sapiens_hsa041420.42445665
159VEGF signaling pathway_Homo sapiens_hsa043700.41564419
160Malaria_Homo sapiens_hsa051440.40701865
161Phenylalanine metabolism_Homo sapiens_hsa003600.40611324
162Chemokine signaling pathway_Homo sapiens_hsa040620.40140162
163Insulin signaling pathway_Homo sapiens_hsa049100.39866626
164Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.38950712
165Huntingtons disease_Homo sapiens_hsa050160.38869667
166Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.38732766
167Glutamatergic synapse_Homo sapiens_hsa047240.38044304
168HTLV-I infection_Homo sapiens_hsa051660.37993241
169Apoptosis_Homo sapiens_hsa042100.37748424
170Fatty acid elongation_Homo sapiens_hsa000620.36895131
171Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.36693786
172Long-term depression_Homo sapiens_hsa047300.36171071
173Cholinergic synapse_Homo sapiens_hsa047250.36003153
174alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.34968554
175Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.34344513

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