CYP19A1

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 member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1glucocorticoid metabolic process (GO:0008211)9.56941856
2multi-organism reproductive process (GO:0044703)8.87533637
3* estrogen metabolic process (GO:0008210)8.49364628
4positive regulation of growth hormone secretion (GO:0060124)8.47847327
5response to gonadotropin (GO:0034698)7.50078149
6cellular response to follicle-stimulating hormone stimulus (GO:0071372)7.46207522
7aminoglycoside antibiotic metabolic process (GO:0030647)7.06020424
8* androgen metabolic process (GO:0008209)6.85540147
9vitamin transmembrane transport (GO:0035461)6.23836715
10detection of molecule of bacterial origin (GO:0032490)6.09153904
11collecting duct development (GO:0072044)5.95885388
12regulation of growth hormone secretion (GO:0060123)5.93146368
13syncytium formation (GO:0006949)5.88265648
14myoblast fusion (GO:0007520)5.77426292
15JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)5.77248632
16negative regulation of activin receptor signaling pathway (GO:0032926)5.39937278
17endocrine hormone secretion (GO:0060986)5.38019180
18positive regulation of protein kinase C signaling (GO:0090037)5.31470031
19response to pheromone (GO:0019236)5.27721257
20positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-5.26380111
21syncytium formation by plasma membrane fusion (GO:0000768)5.17734656
22* hormone biosynthetic process (GO:0042446)5.17488548
23regulation of interferon-gamma biosynthetic process (GO:0045072)4.77905125
24energy homeostasis (GO:0097009)4.70989423
25auditory receptor cell stereocilium organization (GO:0060088)4.66891660
26lymphangiogenesis (GO:0001946)4.42004328
27negative regulation of macrophage differentiation (GO:0045650)4.41981781
28sphingoid metabolic process (GO:0046519)4.39667971
29vascular endothelial growth factor signaling pathway (GO:0038084)4.37047251
30positive regulation of cellular amide metabolic process (GO:0034250)4.34136336
31regulation of endocrine process (GO:0044060)4.27428770
32regulation of activation of Janus kinase activity (GO:0010533)4.20028733
33detection of external biotic stimulus (GO:0098581)4.14221154
34cellular response to gonadotropin stimulus (GO:0071371)4.11896034
35bone morphogenesis (GO:0060349)4.10269801
36cellular anion homeostasis (GO:0030002)4.04575380
37positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)4.02540743
38superoxide anion generation (GO:0042554)4.02405781
39negative regulation of mast cell activation (GO:0033004)3.99776884
40detection of biotic stimulus (GO:0009595)3.76757054
41L-alpha-amino acid transmembrane transport (GO:1902475)3.75861507
42negative regulation of meiosis (GO:0045835)3.75321384
43inner ear receptor stereocilium organization (GO:0060122)3.72718769
44sulfate transmembrane transport (GO:1902358)3.71685887
45positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.70148379
46vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.60994951
47lymph vessel development (GO:0001945)3.58572577
48myelin maintenance (GO:0043217)3.56660019
49C21-steroid hormone biosynthetic process (GO:0006700)3.53841815
50progesterone metabolic process (GO:0042448)3.52013060
51T-helper 1 type immune response (GO:0042088)3.51463149
52sulfate transport (GO:0008272)3.49318598
53protein neddylation (GO:0045116)3.48053104
54basement membrane organization (GO:0071711)3.40658790
55hemoglobin metabolic process (GO:0020027)3.29810320
56sprouting angiogenesis (GO:0002040)3.27602552
57trivalent inorganic anion homeostasis (GO:0072506)3.20474225
58phosphate ion homeostasis (GO:0055062)3.20474225
59lateral ventricle development (GO:0021670)3.19245107
60negative regulation of smooth muscle cell differentiation (GO:0051151)3.17713308
61interkinetic nuclear migration (GO:0022027)3.17424016
62eyelid development in camera-type eye (GO:0061029)3.13325616
63positive regulation of insulin receptor signaling pathway (GO:0046628)3.10892764
64positive regulation of interleukin-1 beta secretion (GO:0050718)3.06902327
65positive regulation of heat generation (GO:0031652)3.06249597
66regulation of fever generation (GO:0031620)3.04903562
67negative regulation of macroautophagy (GO:0016242)3.03283824
68Leydig cell differentiation (GO:0033327)3.03169306
69* estrogen biosynthetic process (GO:0006703)21.3310278
70replicative senescence (GO:0090399)2.98681327
71opioid receptor signaling pathway (GO:0038003)2.94564695
72regulation of dendritic cell antigen processing and presentation (GO:0002604)2.89112821
73polarized epithelial cell differentiation (GO:0030859)2.88974299
74ketone biosynthetic process (GO:0042181)2.88879246
75JAK-STAT cascade (GO:0007259)2.87000389
76centriole assembly (GO:0098534)2.85027492
77regulation of G0 to G1 transition (GO:0070316)2.84973286
78keratinocyte development (GO:0003334)2.84593608
79extracellular negative regulation of signal transduction (GO:1900116)2.83789789
80extracellular regulation of signal transduction (GO:1900115)2.83789789
81parturition (GO:0007567)2.83456397
82low-density lipoprotein particle clearance (GO:0034383)2.82903856
83regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.82465259
84cerebral cortex radially oriented cell migration (GO:0021799)2.80136636
85positive regulation of interleukin-1 secretion (GO:0050716)2.79597724
86dendritic cell chemotaxis (GO:0002407)2.79073574
87ovulation cycle process (GO:0022602)2.78679351
88smooth muscle tissue development (GO:0048745)2.76640887
89sequestering of extracellular ligand from receptor (GO:0035581)2.73551578
90glycoside metabolic process (GO:0016137)2.73050502
91ear development (GO:0043583)2.72561763
92positive regulation of uterine smooth muscle contraction (GO:0070474)2.72401633
93G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.70696682
94regulation of interleukin-1 beta secretion (GO:0050706)2.69462583
95regulation of timing of cell differentiation (GO:0048505)2.68600197
96DNA methylation involved in gamete generation (GO:0043046)2.66600662
97positive regulation of cartilage development (GO:0061036)2.66589822
98aggressive behavior (GO:0002118)2.66052545
99mesenchymal cell differentiation involved in kidney development (GO:0072161)2.65515918
100mesenchymal cell differentiation involved in renal system development (GO:2001012)2.65515918
101iron ion import (GO:0097286)2.64768861
102ganglion development (GO:0061548)2.64391078
103negative regulation of homotypic cell-cell adhesion (GO:0034111)2.62899685
104cellular response to leptin stimulus (GO:0044320)2.62621882
105oocyte development (GO:0048599)2.62272418
106response to leptin (GO:0044321)2.61413557
107regulation of heat generation (GO:0031650)2.60947500
108cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.58910107
109regulation of female gonad development (GO:2000194)2.58435721
110regulation of interleukin-6 biosynthetic process (GO:0045408)2.57849450
111macrophage activation (GO:0042116)2.56871880
112startle response (GO:0001964)2.55627389
113negative regulation of meiotic cell cycle (GO:0051447)2.54551585
114pericardium development (GO:0060039)2.53605016
115activin receptor signaling pathway (GO:0032924)2.53186189
116regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.53164705
117epithelial cell-cell adhesion (GO:0090136)2.53014415
118modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.52767163
119positive regulation by organism of defense response of other organism involved in symbiotic interact2.52767163
120modulation by symbiont of host immune response (GO:0052553)2.52767163
121positive regulation by symbiont of host defense response (GO:0052509)2.52767163
122modulation by symbiont of host defense response (GO:0052031)2.52767163
123modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.52767163
124interferon-gamma production (GO:0032609)2.51749925
125positive regulation of protein sumoylation (GO:0033235)2.51595988
126mating behavior (GO:0007617)2.51214392
127regulation of protein kinase C signaling (GO:0090036)2.50574174
128regulation of non-canonical Wnt signaling pathway (GO:2000050)2.50351966
129drinking behavior (GO:0042756)2.49736733
130serotonin receptor signaling pathway (GO:0007210)2.48920533
131negative regulation of cell-matrix adhesion (GO:0001953)2.48636965
132detection of other organism (GO:0098543)2.47324675
133dentate gyrus development (GO:0021542)2.46544469
134ceramide catabolic process (GO:0046514)2.45920857
135lipoprotein metabolic process (GO:0042157)2.44437412
136mitotic cytokinesis (GO:0000281)2.43060569
137positive regulation of interleukin-1 beta production (GO:0032731)2.41423200
138negative regulation of synaptic transmission, GABAergic (GO:0032229)2.40390873
139fibroblast migration (GO:0010761)2.39885963
140regulation of RIG-I signaling pathway (GO:0039535)2.37931800
141positive regulation of monocyte chemotaxis (GO:0090026)2.37830204
142response to phenylpropanoid (GO:0080184)2.37806144
143female gonad development (GO:0008585)2.37664879
144motile cilium assembly (GO:0044458)2.37293822
145behavioral response to nicotine (GO:0035095)2.37161908
146microglial cell activation (GO:0001774)2.37054936
147regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.36474296
148dendritic cell migration (GO:0036336)2.36469482
149regulation of cholesterol storage (GO:0010885)2.36454951
150C21-steroid hormone metabolic process (GO:0008207)2.34564520
151* steroid biosynthetic process (GO:0006694)2.32952815
152DNA catabolic process, exonucleolytic (GO:0000738)2.32899401
153cellular response to antibiotic (GO:0071236)2.32795343
154G-protein coupled receptor internalization (GO:0002031)2.32233914
155transcytosis (GO:0045056)2.32179633
156negative regulation of stem cell proliferation (GO:2000647)2.31588360
157* cellular hormone metabolic process (GO:0034754)2.31094140
158purinergic nucleotide receptor signaling pathway (GO:0035590)2.30383695
159chondrocyte proliferation (GO:0035988)2.29740129
160cellular response to gamma radiation (GO:0071480)2.29388389
161piRNA metabolic process (GO:0034587)2.29374744
162response to host immune response (GO:0052572)2.29097131
163response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.29097131
164sex determination (GO:0007530)2.27719979
165vitamin D metabolic process (GO:0042359)2.27214386
166positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.26886344
167kidney morphogenesis (GO:0060993)2.26072671
168phagocytosis, recognition (GO:0006910)2.25419975
169branching involved in salivary gland morphogenesis (GO:0060445)2.24469946
170positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)2.24077952
171regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)2.24077952
172regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)2.23947458
173regulation of activin receptor signaling pathway (GO:0032925)2.23794221
174regulation of development, heterochronic (GO:0040034)2.23744314
175modulation by virus of host process (GO:0019054)2.23599631
176regulation of B cell receptor signaling pathway (GO:0050855)2.22113395
177cell differentiation involved in metanephros development (GO:0072202)2.21186978
178positive regulation of interleukin-1 production (GO:0032732)2.20796630
179detection of bacterium (GO:0016045)2.19710870
180somite development (GO:0061053)2.19706915
181regulation of meiosis (GO:0040020)2.18443411
182positive regulation vascular endothelial growth factor production (GO:0010575)2.17937822
183blood vessel morphogenesis (GO:0048514)2.17907085
184post-embryonic morphogenesis (GO:0009886)2.17075346
185regulation of interleukin-1 secretion (GO:0050704)2.16335882
186thyroid hormone generation (GO:0006590)2.16156686
187antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.15490888
188embryonic process involved in female pregnancy (GO:0060136)2.13686167
189bundle of His cell to Purkinje myocyte communication (GO:0086069)2.13327832
190regulation of integrin-mediated signaling pathway (GO:2001044)2.13124799
191negative regulation of T cell differentiation in thymus (GO:0033085)2.13028582
192regulation of gonadotropin secretion (GO:0032276)18.2641447
193response to follicle-stimulating hormone (GO:0032354)17.0018940
194glucocorticoid biosynthetic process (GO:0006704)15.5493961
195female pregnancy (GO:0007565)14.0080817
196androgen biosynthetic process (GO:0006702)13.4987732
197doxorubicin metabolic process (GO:0044598)11.3156377
198daunorubicin metabolic process (GO:0044597)11.3156377
199polyketide metabolic process (GO:0030638)11.3156377
200multi-multicellular organism process (GO:0044706)10.1198317

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EGR1_19032775_ChIP-ChIP_M12_Human5.35498598
2GBX2_23144817_ChIP-Seq_PC3_Human4.07136364
3TRIM28_21343339_ChIP-Seq_HEK293_Human3.87971331
4EZH2_22144423_ChIP-Seq_EOC_Human3.85747460
5BP1_19119308_ChIP-ChIP_Hs578T_Human3.26248405
6TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.21654452
7ESR1_20079471_ChIP-ChIP_T-47D_Human3.14424380
8TRIM28_17542650_ChIP-ChIP_NTERA2_Human2.97963752
9PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.92532297
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.87524931
11ZFP57_27257070_Chip-Seq_ESCs_Mouse2.60965353
12AHR_22903824_ChIP-Seq_MCF-7_Human2.57640735
13PCGF2_27294783_Chip-Seq_ESCs_Mouse2.55469471
14BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.54255403
15SMAD_19615063_ChIP-ChIP_OVARY_Human2.35995159
16FLI1_27457419_Chip-Seq_LIVER_Mouse2.35478730
17SUZ12_27294783_Chip-Seq_NPCs_Mouse2.20991838
18PPAR_26484153_Chip-Seq_NCI-H1993_Human2.16761573
19ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.15001838
20ZNF217_24962896_ChIP-Seq_MCF-7_Human2.11458613
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.07986136
22ESR2_21235772_ChIP-Seq_MCF-7_Human2.06316381
23POU3F2_20337985_ChIP-ChIP_501MEL_Human2.06220749
24NFE2_27457419_Chip-Seq_LIVER_Mouse2.03814308
25ARNT_22903824_ChIP-Seq_MCF-7_Human2.01220445
26BMI1_23680149_ChIP-Seq_NPCS_Mouse2.00391914
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human12.5700931
28IGF1R_20145208_ChIP-Seq_DFB_Human1.91935565
29HIF1A_21447827_ChIP-Seq_MCF-7_Human1.91340411
30TP53_18474530_ChIP-ChIP_U2OS_Human1.88859094
31P300_19829295_ChIP-Seq_ESCs_Human1.88422052
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.88029603
33ESR1_21235772_ChIP-Seq_MCF-7_Human1.87663508
34ZNF263_19887448_ChIP-Seq_K562_Human1.87513656
35CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.87280416
36PCGF2_27294783_Chip-Seq_NPCs_Mouse1.85765460
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.84869005
38CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.83183860
39TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.82898851
40JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.80454202
41EZH2_27294783_Chip-Seq_NPCs_Mouse1.80277682
42NANOG_18555785_Chip-Seq_ESCs_Mouse1.80196121
43EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.78713853
44E2F1_18555785_Chip-Seq_ESCs_Mouse1.78384230
45CBX2_27304074_Chip-Seq_ESCs_Mouse1.77585339
46SUZ12_18555785_Chip-Seq_ESCs_Mouse1.76044755
47EED_16625203_ChIP-ChIP_MESCs_Mouse1.74966347
48VDR_22108803_ChIP-Seq_LS180_Human1.73080778
49STAT3_18555785_Chip-Seq_ESCs_Mouse1.72934903
50P53_22387025_ChIP-Seq_ESCs_Mouse1.72885329
51FOXO3_23340844_ChIP-Seq_DLD1_Human1.71426811
52RNF2_27304074_Chip-Seq_NSC_Mouse1.70318471
53P63_26484246_Chip-Seq_KERATINOCYTES_Human1.69449406
54SCL_19346495_ChIP-Seq_HPC-7_Human1.65564203
55ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.63690054
56NMYC_18555785_Chip-Seq_ESCs_Mouse1.61170578
57CMYC_18555785_Chip-Seq_ESCs_Mouse1.60269280
58SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.57311366
59EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.56514911
60JARID2_20064375_ChIP-Seq_MESCs_Mouse1.55695255
61BRD4_25478319_ChIP-Seq_HGPS_Human1.54959106
62SOX2_18555785_Chip-Seq_ESCs_Mouse1.53303227
63PIAS1_25552417_ChIP-Seq_VCAP_Human1.53296348
64EZH2_27304074_Chip-Seq_ESCs_Mouse1.50434683
65SMAD4_21799915_ChIP-Seq_A2780_Human1.49799842
66SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.49574387
67OCT4_18555785_Chip-Seq_ESCs_Mouse1.48542328
68RUNX1_27457419_Chip-Seq_LIVER_Mouse1.48250332
69P300_18555785_Chip-Seq_ESCs_Mouse1.44700492
70SMAD3_21741376_ChIP-Seq_EPCs_Human1.43841112
71ZFX_18555785_Chip-Seq_ESCs_Mouse1.43038970
72PU1_27457419_Chip-Seq_LIVER_Mouse1.42867422
73NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.40588908
74MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.40534217
75SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.40269458
76ESRRB_18555785_Chip-Seq_ESCs_Mouse1.38073206
77TAF15_26573619_Chip-Seq_HEK293_Human1.37395537
78ESR1_15608294_ChIP-ChIP_MCF-7_Human1.35963763
79CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.35804717
80PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.34237266
81NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.33715507
82RNF2_27304074_Chip-Seq_ESCs_Mouse1.33444128
83KLF4_18555785_Chip-Seq_ESCs_Mouse1.33319714
84AR_25329375_ChIP-Seq_VCAP_Human1.33280519
85CTCF_27219007_Chip-Seq_ERYTHROID_Human1.31437314
86FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.30893941
87* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.30821053
88CTBP2_25329375_ChIP-Seq_LNCAP_Human1.30721130
89IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.30513800
90POU5F1_16518401_ChIP-PET_MESCs_Mouse1.30130738
91NR3C1_21868756_ChIP-Seq_MCF10A_Human1.29932596
92CTCF_18555785_Chip-Seq_ESCs_Mouse1.29790209
93SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.28747685
94RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.28489116
95CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.28059007
96FUS_26573619_Chip-Seq_HEK293_Human1.27933069
97AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.27367889
98PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.26791588
99STAT3_23295773_ChIP-Seq_U87_Human1.26601145
100CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.26493366
101EWS_26573619_Chip-Seq_HEK293_Human1.26114990
102* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.24829537
103* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.24829537
104* ER_23166858_ChIP-Seq_MCF-7_Human1.24657791
105SMAD1_18555785_Chip-Seq_ESCs_Mouse1.23816933
106JARID2_20075857_ChIP-Seq_MESCs_Mouse1.23649852
107JUN_21703547_ChIP-Seq_K562_Human1.22243339
108OCT4_21477851_ChIP-Seq_ESCs_Mouse1.20193914
109IRF8_21731497_ChIP-ChIP_J774_Mouse1.19882978
110SMAD3_21741376_ChIP-Seq_HESCs_Human1.19761417
111AR_21572438_ChIP-Seq_LNCaP_Human1.19454872
112KDM2B_26808549_Chip-Seq_REH_Human1.19293165
113* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.18230794
114POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.18186972
115TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18186972
116RUNX2_22187159_ChIP-Seq_PCA_Human1.17291544
117EGR1_19374776_ChIP-ChIP_THP-1_Human1.15430026
118* GATA3_24758297_ChIP-Seq_MCF-7_Human1.15381231
119TCF4_23295773_ChIP-Seq_U87_Human1.14624514
120* TAL1_26923725_Chip-Seq_HPCs_Mouse1.13804743
121CRX_20693478_ChIP-Seq_RETINA_Mouse1.13668240
122CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.13190223
123EP300_21415370_ChIP-Seq_HL-1_Mouse1.12900080
124POU5F1_16153702_ChIP-ChIP_HESCs_Human1.11864156
125LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.11388730
126SOX2_20726797_ChIP-Seq_SW620_Human1.11196039
127EZH2_27294783_Chip-Seq_ESCs_Mouse1.10921950
128LXR_22158963_ChIP-Seq_LIVER_Mouse1.09995923
129TP63_23658742_ChIP-Seq_EP156T_Human1.09939482
130REST_21632747_ChIP-Seq_MESCs_Mouse1.09601472
131DROSHA_22980978_ChIP-Seq_HELA_Human1.09287979
132OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09086026
133SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.08885703
134FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.08792602
135GATA1_19941826_ChIP-Seq_K562_Human1.08680074
136BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.08367045
137SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.08128484
138KLF4_19829295_ChIP-Seq_ESCs_Human1.07705773
139CDX2_19796622_ChIP-Seq_MESCs_Mouse1.07703416
140TP63_19390658_ChIP-ChIP_HaCaT_Human1.06640191
141MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.06113160
142SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.05436751
143* FOXA2_19822575_ChIP-Seq_HepG2_Human1.04623646
144KAP1_22055183_ChIP-Seq_ESCs_Mouse1.04493173
145RXR_22108803_ChIP-Seq_LS180_Human1.01761273
146IKZF1_21737484_ChIP-ChIP_HCT116_Human1.01444422
147CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.97100241
148UBF1/2_26484160_Chip-Seq_HMECs_Human0.96911089
149GATA4_25053715_ChIP-Seq_YYC3_Human0.95866310
150ISL1_27105846_Chip-Seq_CPCs_Mouse0.92548799
151EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.91503728
152IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.90998043
153CBP_20019798_ChIP-Seq_JUKART_Human0.90998043
154ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.90441113
155RXR_22158963_ChIP-Seq_LIVER_Mouse0.89349286
156CLOCK_20551151_ChIP-Seq_293T_Human0.88579716
157PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.87480671
158TBX3_20139965_ChIP-Seq_ESCs_Mouse0.86107364
159TBX3_20139965_ChIP-Seq_MESCs_Mouse0.86005598
160STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.85635501
161PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.85105372
162CJUN_26792858_Chip-Seq_BT549_Human0.85063137
163CTNNB1_20460455_ChIP-Seq_HCT116_Human0.83948205
164SOX9_24532713_ChIP-Seq_HFSC_Mouse0.83710952
165SA1_22415368_ChIP-Seq_MEFs_Mouse0.83088409
166TP63_22573176_ChIP-Seq_HFKS_Human0.83043622
167MTF2_20144788_ChIP-Seq_MESCs_Mouse0.82693873
168RUNX1_27514584_Chip-Seq_MCF-7_Human0.81864400
169NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.80867921
170NRF2_20460467_ChIP-Seq_MEFs_Mouse0.80867921
171GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.80618494
172* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.79720278
173TBX20_22080862_ChIP-Seq_HEART_Mouse0.79694535
174TBX20_22328084_ChIP-Seq_HEART_Mouse0.79694535
175SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.79475865
176THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.77803861
177SALL4_18804426_ChIP-ChIP_XEN_Mouse0.75745437
178JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.75592473
179SMAD4_21741376_ChIP-Seq_HESCs_Human0.73942033
180FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.71548204
181SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.71444253
182TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.69585565

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010368_abnormal_lymphatic_system5.35858316
2MP0000013_abnormal_adipose_tissue4.29679535
3MP0005645_abnormal_hypothalamus_physiol4.27102324
4MP0003283_abnormal_digestive_organ3.89340533
5MP0006292_abnormal_olfactory_placode3.77083776
6MP0000003_abnormal_adipose_tissue3.59964893
7MP0008004_abnormal_stomach_pH3.59092542
8MP0004019_abnormal_vitamin_homeostasis3.51850743
9MP0005377_hearing/vestibular/ear_phenot3.25299189
10MP0003878_abnormal_ear_physiology3.25299189
11MP0000566_synostosis3.12226477
12MP0005646_abnormal_pituitary_gland3.07496958
13MP0001986_abnormal_taste_sensitivity2.77334546
14MP0006054_spinal_hemorrhage2.64926331
15MP0000639_abnormal_adrenal_gland2.60308705
16MP0010386_abnormal_urinary_bladder2.50844644
17MP0005171_absent_coat_pigmentation2.43753014
18MP0000678_abnormal_parathyroid_gland2.42650131
19MP0003787_abnormal_imprinting2.41853475
20MP0006138_congestive_heart_failure2.37015496
21MP0002638_abnormal_pupillary_reflex2.30449165
22MP0001666_abnormal_nutrient_absorption2.30284126
23MP0003136_yellow_coat_color2.20008699
24MP0002735_abnormal_chemical_nociception2.17876591
25MP0002277_abnormal_respiratory_mucosa2.17819129
26MP0002876_abnormal_thyroid_physiology2.17354682
27MP0000647_abnormal_sebaceous_gland2.06259973
28MP0005375_adipose_tissue_phenotype2.05779017
29MP0003646_muscle_fatigue2.04796628
30MP0001188_hyperpigmentation2.04160338
31MP0002653_abnormal_ependyma_morphology1.97977437
32MP0009703_decreased_birth_body1.94447346
33MP0000613_abnormal_salivary_gland1.89257233
34MP0002971_abnormal_brown_adipose1.88466639
35MP0002909_abnormal_adrenal_gland1.86690971
36MP0004782_abnormal_surfactant_physiolog1.85174661
37MP0001984_abnormal_olfaction1.83290783
38MP0003879_abnormal_hair_cell1.81712811
39MP0004742_abnormal_vestibular_system1.79802476
40MP0001346_abnormal_lacrimal_gland1.79612012
41MP0005023_abnormal_wound_healing1.78988537
42MP0002102_abnormal_ear_morphology1.77273577
43MP0002132_abnormal_respiratory_system1.76891829
44MP0003453_abnormal_keratinocyte_physiol1.71191079
45MP0002736_abnormal_nociception_after1.69675116
46MP0002148_abnormal_hypersensitivity_rea1.66474902
47MP0000015_abnormal_ear_pigmentation1.64866974
48MP0001879_abnormal_lymphatic_vessel1.59249338
49MP0001485_abnormal_pinna_reflex1.55840783
50MP0002938_white_spotting1.53454423
51MP0004185_abnormal_adipocyte_glucose1.52994189
52MP0002163_abnormal_gland_morphology1.50744013
53MP0001835_abnormal_antigen_presentation1.50484307
54MP0001756_abnormal_urination1.48207595
55MP0000372_irregular_coat_pigmentation1.46287637
56MP0008260_abnormal_autophagy1.45730745
57MP0005076_abnormal_cell_differentiation1.44930220
58MP0004272_abnormal_basement_membrane1.42247338
59MP0008875_abnormal_xenobiotic_pharmacok1.41508331
60MP0001502_abnormal_circadian_rhythm1.40977567
61MP0001661_extended_life_span1.40287737
62MP0000569_abnormal_digit_pigmentation1.40166537
63MP0004947_skin_inflammation1.39619870
64MP0003705_abnormal_hypodermis_morpholog1.39130787
65MP0003011_delayed_dark_adaptation1.35367611
66* MP0003936_abnormal_reproductive_system1.34695985
67MP0003183_abnormal_peptide_metabolism1.31377086
68MP0000681_abnormal_thyroid_gland1.29992352
69MP0001486_abnormal_startle_reflex1.29707652
70MP0003941_abnormal_skin_development1.29129139
71MP0001340_abnormal_eyelid_morphology1.28956799
72MP0003567_abnormal_fetal_cardiomyocyte1.28660994
73MP0001501_abnormal_sleep_pattern1.28381095
74MP0001968_abnormal_touch/_nociception1.25119076
75MP0004145_abnormal_muscle_electrophysio1.24704438
76MP0005310_abnormal_salivary_gland1.24395625
77MP0005409_darkened_coat_color1.23904768
78MP0003828_pulmonary_edema1.22634530
79MP0009785_altered_susceptibility_to1.21998128
80MP0003718_maternal_effect1.21330114
81MP0003195_calcinosis1.21086820
82MP0002086_abnormal_extraembryonic_tissu1.19584053
83MP0005379_endocrine/exocrine_gland_phen1.18766759
84* MP0001119_abnormal_female_reproductive1.15949306
85MP0003566_abnormal_cell_adhesion1.12705745
86MP0000026_abnormal_inner_ear1.12191280
87MP0003121_genomic_imprinting1.11261420
88MP0009764_decreased_sensitivity_to1.11175990
89MP0005671_abnormal_response_to1.09686255
90MP0001765_abnormal_ion_homeostasis1.09277068
91* MP0002557_abnormal_social/conspecific_i1.04461747
92MP0002419_abnormal_innate_immunity1.03757943
93MP0008877_abnormal_DNA_methylation1.02473597
94MP0008995_early_reproductive_senescence1.00733318
95MP0005257_abnormal_intraocular_pressure1.00011692
96MP0000516_abnormal_urinary_system0.98977271
97MP0005367_renal/urinary_system_phenotyp0.98977271
98MP0008789_abnormal_olfactory_epithelium0.98824879
99MP0001915_intracranial_hemorrhage0.98802393
100MP0005423_abnormal_somatic_nervous0.97005564
101MP0002160_abnormal_reproductive_system0.96720962
102MP0000462_abnormal_digestive_system0.95570814
103MP0010352_gastrointestinal_tract_polyps0.95128255
104* MP0001963_abnormal_hearing_physiology0.95022691
105MP0000538_abnormal_urinary_bladder0.94464119
106MP0009046_muscle_twitch0.94128860
107MP0002896_abnormal_bone_mineralization0.93909374
108MP0000631_abnormal_neuroendocrine_gland0.92625210
109MP0001881_abnormal_mammary_gland0.92037691
110MP0000627_abnormal_mammary_gland0.91238745
111MP0001790_abnormal_immune_system0.90787308
112MP0005387_immune_system_phenotype0.90787308
113MP0004233_abnormal_muscle_weight0.89351470
114MP0002095_abnormal_skin_pigmentation0.88839590
115MP0003880_abnormal_central_pattern0.88175762
116MP0003385_abnormal_body_wall0.87230843
117* MP0002572_abnormal_emotion/affect_behav0.86066483
118* MP0003699_abnormal_female_reproductive0.85235798
119MP0009745_abnormal_behavioral_response0.84823409
120* MP0005647_abnormal_sex_gland0.83705640
121MP0000767_abnormal_smooth_muscle0.82768445
122MP0002734_abnormal_mechanical_nocicepti0.81655526
123MP0006082_CNS_inflammation0.81208988
124MP0005636_abnormal_mineral_homeostasis0.80441427
125MP0003315_abnormal_perineum_morphology0.77762745
126MP0005451_abnormal_body_composition0.75068240
127MP0000049_abnormal_middle_ear0.74915359
128MP0000383_abnormal_hair_follicle0.74283806
129MP0008058_abnormal_DNA_repair0.74232411
130MP0002184_abnormal_innervation0.72766131
131MP0009384_cardiac_valve_regurgitation0.72639256
132* MP0002128_abnormal_blood_circulation0.72391399
133MP0002177_abnormal_outer_ear0.71738135
134MP0003950_abnormal_plasma_membrane0.71660643
135MP0002067_abnormal_sensory_capabilities0.71459007
136MP0002452_abnormal_antigen_presenting0.71172964
137MP0000470_abnormal_stomach_morphology0.70863446
138MP0001324_abnormal_eye_pigmentation0.70221263
139MP0008438_abnormal_cutaneous_collagen0.70046608
140MP0003763_abnormal_thymus_physiology0.69929544
141MP0005670_abnormal_white_adipose0.69731136
142MP0003724_increased_susceptibility_to0.68357249
143MP0004924_abnormal_behavior0.68125492
144MP0005386_behavior/neurological_phenoty0.68125492
145MP0001177_atelectasis0.67806351
146MP0005666_abnormal_adipose_tissue0.67231737
147MP0005000_abnormal_immune_tolerance0.66570992
148MP0001529_abnormal_vocalization0.65709095
149MP0005499_abnormal_olfactory_system0.65452119
150MP0005394_taste/olfaction_phenotype0.65452119
151MP0003890_abnormal_embryonic-extraembry0.64809126
152* MP0002210_abnormal_sex_determination0.64265884
153MP0002127_abnormal_cardiovascular_syste0.64220631
154MP0002098_abnormal_vibrissa_morphology0.63465952
155MP0003122_maternal_imprinting0.62989695
156MP0002723_abnormal_immune_serum0.62623538
157MP0002249_abnormal_larynx_morphology0.62526083
158MP0008057_abnormal_DNA_replication0.62264240
159MP0002751_abnormal_autonomic_nervous0.61961178
160MP0000266_abnormal_heart_morphology0.61524555
161MP0001819_abnormal_immune_cell0.60747743
162MP0005025_abnormal_response_to0.60490785
163* MP0003953_abnormal_hormone_level0.59899582
164MP0001730_embryonic_growth_arrest0.59031402
165* MP0003795_abnormal_bone_structure0.58811511
166* MP0000653_abnormal_sex_gland0.58345568
167MP0002925_abnormal_cardiovascular_devel0.58083884
168MP0001544_abnormal_cardiovascular_syste0.57779576
169MP0005385_cardiovascular_system_phenoty0.57779576
170MP0000685_abnormal_immune_system0.57071837
171MP0004264_abnormal_extraembryonic_tissu0.56170269
172MP0000427_abnormal_hair_cycle0.55907933
173MP0004858_abnormal_nervous_system0.55540742
174MP0003091_abnormal_cell_migration0.55179495
175MP0001851_eye_inflammation0.55066406
176MP0001614_abnormal_blood_vessel0.54408428
177MP0009672_abnormal_birth_weight0.53488611
178MP0002113_abnormal_skeleton_development0.50160792
179* MP0002998_abnormal_bone_remodeling0.49297244
180MP0002084_abnormal_developmental_patter0.49108157
181MP0005058_abnormal_lysosome_morphology0.48153863
182* MP0001929_abnormal_gametogenesis0.47841198
183MP0005193_abnormal_anterior_eye0.46428297
184MP0005164_abnormal_response_to0.46020381
185* MP0001145_abnormal_male_reproductive0.45099034

Predicted human phenotypes

RankGene SetZ-score
1Capillary hemangiomas (HP:0005306)8.39470566
2Upper limb muscle weakness (HP:0003484)6.90332541
3Decreased number of large peripheral myelinated nerve fibers (HP:0003387)6.68224073
4Muscle fibrillation (HP:0010546)5.17918655
5Sex reversal (HP:0012245)5.04067811
6Abnormal sex determination (HP:0012244)5.04067811
7Abnormal pupillary function (HP:0007686)4.93095791
8Tongue fasciculations (HP:0001308)4.91981801
9Abnormal auditory evoked potentials (HP:0006958)4.82267178
10Gonadotropin excess (HP:0000837)4.76126006
11Short tibia (HP:0005736)4.72193368
12Parakeratosis (HP:0001036)4.64172443
13Nonimmune hydrops fetalis (HP:0001790)4.61743462
14Back pain (HP:0003418)4.39692975
15Aplasia/Hypoplasia of the tibia (HP:0005772)4.36414466
16Testicular neoplasm (HP:0010788)4.30062103
17Relative macrocephaly (HP:0004482)4.24261101
18Follicular hyperkeratosis (HP:0007502)4.11940633
19Chromosomal breakage induced by crosslinking agents (HP:0003221)3.92407921
20Anosmia (HP:0000458)3.91385685
21Dynein arm defect of respiratory motile cilia (HP:0012255)3.85189696
22Absent/shortened dynein arms (HP:0200106)3.85189696
23Chronic hepatic failure (HP:0100626)3.75260660
24Unilateral renal agenesis (HP:0000122)3.71756408
25Alopecia of scalp (HP:0002293)3.66987295
26Absent eyebrow (HP:0002223)3.61420829
27Lower limb asymmetry (HP:0100559)3.55688497
28Abnormality of the distal phalanx of the thumb (HP:0009617)3.49888963
29Gonadal dysgenesis (HP:0000133)3.45064578
30Abnormality of carpal bone ossification (HP:0006257)3.44166364
31Cheilitis (HP:0100825)3.41733782
32Chromsome breakage (HP:0040012)3.38555039
33Hypoplasia of the uterus (HP:0000013)3.35802367
34Retrobulbar optic neuritis (HP:0100654)3.33178682
35Optic neuritis (HP:0100653)3.33178682
36Abnormality of the phalanges of the hallux (HP:0010057)3.27289988
37Abnormal pancreas size (HP:0012094)3.21342229
38Abnormality of dental color (HP:0011073)3.18889677
39Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.16408732
40Abnormality of the aortic arch (HP:0012303)3.15836044
41Abnormal ciliary motility (HP:0012262)3.11863221
42Wormian bones (HP:0002645)3.11844293
43Abnormality of the 1st metacarpal (HP:0010009)3.11534357
44True hermaphroditism (HP:0010459)3.10420238
45Abnormal respiratory motile cilium physiology (HP:0012261)3.05366208
46Absent eyelashes (HP:0000561)3.01942871
47Hyperpituitarism (HP:0010514)3.01385666
48Hyperphosphatemia (HP:0002905)2.95237496
49Prostate neoplasm (HP:0100787)2.88235477
50Bilateral sensorineural hearing impairment (HP:0008619)2.87246197
51Pancreatic fibrosis (HP:0100732)2.86664008
52Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.85937529
53Abnormality of the ischium (HP:0003174)2.85507369
54Short humerus (HP:0005792)2.83147353
55Pseudobulbar signs (HP:0002200)2.82783162
56Bile duct proliferation (HP:0001408)2.80609023
57Abnormal biliary tract physiology (HP:0012439)2.80609023
58Long palpebral fissure (HP:0000637)2.78112499
59Abnormal hand bone ossification (HP:0010660)2.77512242
60Long eyelashes (HP:0000527)2.77348599
61Abnormality of the proximal phalanges of the hand (HP:0009834)2.75022467
62Tetany (HP:0001281)2.71555117
63Febrile seizures (HP:0002373)2.66607406
64Hypoplasia of the fovea (HP:0007750)2.65316363
65Aplasia/Hypoplasia of the fovea (HP:0008060)2.65316363
66Bilateral microphthalmos (HP:0007633)2.65295236
67Rhinitis (HP:0012384)2.61434871
68Congenital sensorineural hearing impairment (HP:0008527)2.59971055
69Basal cell carcinoma (HP:0002671)2.59589813
70Flared iliac wings (HP:0002869)2.59251010
71Hypogonadotrophic hypogonadism (HP:0000044)2.58052672
72Orchitis (HP:0100796)2.56717927
73Cupped ribs (HP:0000887)2.54832605
74Osteomalacia (HP:0002749)2.54541129
75Premature ovarian failure (HP:0008209)2.54528574
76Abnormal respiratory epithelium morphology (HP:0012253)2.54345719
77Abnormal respiratory motile cilium morphology (HP:0005938)2.54345719
78Abnormal ossification of hand bones (HP:0005921)2.52519730
79Renal dysplasia (HP:0000110)2.51853722
80Renal salt wasting (HP:0000127)2.51430544
81Bicornuate uterus (HP:0000813)2.50313996
82Pancreatic cysts (HP:0001737)2.50173043
83Recurrent corneal erosions (HP:0000495)2.50135240
84Abnormality of incisor morphology (HP:0011063)2.49527220
85Aplasia/hypoplasia of the humerus (HP:0006507)2.49251892
86Abnormality of the 2nd finger (HP:0004100)2.45375261
87Hyperaldosteronism (HP:0000859)2.44539180
88Disproportionate tall stature (HP:0001519)2.42367305
89Alveolar cell carcinoma (HP:0006519)2.41538339
90Menstrual irregularities (HP:0000858)2.37687179
91Patchy hypopigmentation of hair (HP:0011365)2.37445108
92Septo-optic dysplasia (HP:0100842)2.37172089
93White forelock (HP:0002211)2.36423931
94Abnormal hair whorl (HP:0010721)2.35717796
95Keratitis (HP:0000491)2.35471141
96Onion bulb formation (HP:0003383)2.34040844
97Ectopic kidney (HP:0000086)2.33188368
98Hypoplastic nipples (HP:0002557)2.30684011
99Recurrent abscess formation (HP:0002722)2.27652939
100Venous insufficiency (HP:0005293)2.26344170
101Asymmetric growth (HP:0100555)2.25426411
102Myositis (HP:0100614)2.25159861
103Ectropion (HP:0000656)2.22773501
104Nephrogenic diabetes insipidus (HP:0009806)2.19105104
105Medial flaring of the eyebrow (HP:0010747)2.18844870
106Neoplasm of the tracheobronchial system (HP:0100552)2.17202076
107Clubbing of toes (HP:0100760)2.15645483
108Abnormality of the fovea (HP:0000493)2.15273554
109Abnormality of midbrain morphology (HP:0002418)2.13632619
110Molar tooth sign on MRI (HP:0002419)2.13632619
111Aplasia/hypoplasia of the uterus (HP:0008684)2.13548056
112Aplasia/Hypoplasia of the uvula (HP:0010293)2.12802409
113Delayed gross motor development (HP:0002194)2.11543257
114Occipital encephalocele (HP:0002085)2.11317587
115Right ventricular cardiomyopathy (HP:0011663)2.09277080
116Short phalanx of the thumb (HP:0009660)2.07569153
117Cupped ear (HP:0000378)2.06305340
118Recurrent bacterial skin infections (HP:0005406)2.04226245
119Broad palm (HP:0001169)2.03367798
120Recurrent pneumonia (HP:0006532)2.03175954
121Duplicated collecting system (HP:0000081)2.02922665
122Abnormality of the renal collecting system (HP:0004742)2.01445642
123Peripheral demyelination (HP:0011096)1.99893282
124Decreased motor nerve conduction velocity (HP:0003431)1.99207570
125Polycythemia (HP:0001901)1.99200826
126Protrusio acetabuli (HP:0003179)1.98886672
127Optic nerve hypoplasia (HP:0000609)1.98682556
128Tubulointerstitial nephritis (HP:0001970)1.97637252
129Venous abnormality (HP:0002624)1.97394879
130Abnormality of the intervertebral disk (HP:0005108)1.96895052
131Abnormality of the prostate (HP:0008775)1.94942528
132Blue sclerae (HP:0000592)1.91935029
133Abnormality of the preputium (HP:0100587)1.91763761
134Keratoconjunctivitis (HP:0001096)1.91616595
135Congenital hepatic fibrosis (HP:0002612)1.91428304
136Diastasis recti (HP:0001540)1.90753819
137Overgrowth (HP:0001548)1.90369645
138Congenital ichthyosiform erythroderma (HP:0007431)1.89509486
139Eczematoid dermatitis (HP:0000976)1.89310501
140Abnormality of calcium-phosphate metabolism (HP:0100530)1.89289277
141Abolished electroretinogram (ERG) (HP:0000550)1.88342139
142Hypoplastic ilia (HP:0000946)1.88073692
143Abnormality of the middle phalanges of the toes (HP:0010183)1.87513467
144Coxa vara (HP:0002812)1.86560131
145Neoplasm of the lung (HP:0100526)1.86552229
146Cystic liver disease (HP:0006706)1.85436076
147Hypoplastic iliac wings (HP:0002866)1.85430378
148Mediastinal lymphadenopathy (HP:0100721)1.85283369
149Nephronophthisis (HP:0000090)1.84629564
150Median cleft lip (HP:0000161)1.84299064
151Postaxial foot polydactyly (HP:0001830)1.83077522
152Oligohydramnios (HP:0001562)1.82878145
153Growth hormone excess (HP:0000845)1.82406337
154Aplasia cutis congenita (HP:0001057)1.82097765
155Type 2 muscle fiber atrophy (HP:0003554)1.81883311
156Hypoplasia of the iris (HP:0007676)1.81262560
157Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.80541026
158Abnormality of the pupil (HP:0000615)1.79898280
159Areflexia of lower limbs (HP:0002522)1.79485254
160Difficulty walking (HP:0002355)1.79398093
161Flat capital femoral epiphysis (HP:0003370)1.78948828
162Keratoconjunctivitis sicca (HP:0001097)1.78517095
163Absent hair (HP:0002298)1.78345686
164Obstructive lung disease (HP:0006536)1.78336660
165Chronic obstructive pulmonary disease (HP:0006510)1.78336660
166Focal motor seizures (HP:0011153)1.76820206
167Partial agenesis of the corpus callosum (HP:0001338)1.76297430
168Preaxial hand polydactyly (HP:0001177)1.75722101
169Optic nerve coloboma (HP:0000588)1.75524011
170Abnormality of the renal medulla (HP:0100957)1.74845677
171Arachnodactyly (HP:0001166)1.74760258
172Hip dysplasia (HP:0001385)1.74551346
173Congenital primary aphakia (HP:0007707)1.74476259
174Meckel diverticulum (HP:0002245)1.73303248
175Fetal akinesia sequence (HP:0001989)1.72852435
176Ovoid vertebral bodies (HP:0003300)1.72075592
177Absent phalangeal crease (HP:0006109)1.71870455
178Aganglionic megacolon (HP:0002251)1.71744483
179Aplasia of the musculature (HP:0100854)1.70696716
180Gait imbalance (HP:0002141)1.69976742
181Deviation of the thumb (HP:0009603)1.69335996
182Abnormality of the ileum (HP:0001549)1.69309912
183Type I transferrin isoform profile (HP:0003642)1.68062699
184Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.66866067
185Reduced antithrombin III activity (HP:0001976)1.66599924
186Barrel-shaped chest (HP:0001552)1.66133428
187Aplasia/Hypoplasia of the clavicles (HP:0006710)1.66114805
188Pulmonary infiltrates (HP:0002113)1.65430099
189Mitral stenosis (HP:0001718)1.64784374
190Anomalous pulmonary venous return (HP:0010772)1.63046366
191Arteriovenous malformation (HP:0100026)1.62870898
192Anophthalmia (HP:0000528)1.62529083
193Genu varum (HP:0002970)1.62232580
194Male infertility (HP:0003251)1.61089535
195Lumbar hyperlordosis (HP:0002938)1.60921606
196Seborrheic dermatitis (HP:0001051)1.60830131
197Hematochezia (HP:0002573)1.60119918
198Cerebral aneurysm (HP:0004944)1.59786132

Predicted kinase interactions (KEA)

RankGene SetZ-score
1KDR9.30490423
2PDGFRA6.34584319
3SIK35.66758638
4DAPK24.03500588
5ICK3.11486891
6CASK2.91619541
7TXK2.85883535
8MAP2K72.82960081
9CDK82.61383427
10MAP3K142.61158994
11TNIK2.57758099
12PDGFRB2.54456610
13BMPR22.51206311
14ZAK2.50841546
15BLK2.42792884
16STK38L2.39833862
17MST42.27702207
18BMPR1B2.04888799
19PRPF4B2.00721874
20IRAK41.94808514
21AKT31.92706753
22ADRBK21.87942914
23SGK21.87651749
24IRAK31.76966799
25SIK21.72736034
26YES11.64447643
27MAPK131.51404083
28NEK91.50697954
29BRAF1.50093661
30INSRR1.49926635
31RIPK11.48966162
32MKNK21.42809125
33LATS11.41749131
34DAPK11.40729410
35MAP3K71.36135440
36TAOK31.34451885
37PLK41.32197729
38STK381.29396453
39MAP3K121.29352246
40CDK31.27601334
41ERBB31.26877900
42PKN11.26565966
43NLK1.22604036
44SIK11.19393882
45PDPK11.19293114
46MUSK1.18822102
47PIM21.18051408
48LATS21.17637196
49SGK2231.15126360
50SGK4941.15126360
51PINK11.13728914
52RPS6KA21.13672182
53EIF2AK21.13558957
54TIE11.08335975
55SRPK11.03264848
56NEK61.01518170
57EPHA20.97235734
58DAPK30.96282643
59MET0.95242677
60VRK10.95159628
61SGK30.95003231
62TEC0.93794632
63EPHA40.91932918
64INSR0.90070638
65EGFR0.86699586
66NME10.84778490
67GRK70.84000712
68TAOK20.81409632
69STK240.79875630
70MAP3K40.77616454
71WNK30.77254530
72NTRK30.77210571
73IKBKB0.75741015
74EPHA30.73705423
75TNK20.72874358
76PDK20.72824661
77JAK30.72294485
78IRAK10.72242175
79PLK20.72026362
80PDK10.69565390
81IKBKE0.68406696
82PTK60.68203894
83MARK30.67666040
84MELK0.67151494
85JAK20.64993976
86AKT20.64406995
87PRKCE0.63690460
88STK30.62655775
89GRK10.62567742
90CHUK0.61725240
91MAP3K130.60990886
92MTOR0.60743758
93NTRK20.60406847
94KIT0.60030921
95MAP3K60.59279153
96STK100.59234575
97CHEK20.59000599
98NUAK10.58345396
99MKNK10.57962933
100MYLK0.57808744
101* SRC0.57433952
102RPS6KB10.55457250
103DYRK20.54448171
104MAP2K10.54377490
105BCR0.53908051
106MAPK70.53678561
107TRPM70.52541592
108IRAK20.52396796
109MARK20.50621324
110ERBB40.48983031
111CDC42BPA0.48506458
112LYN0.47918552
113CLK10.47323313
114ATR0.46341907
115FER0.46288558
116PRKCZ0.45151839
117JAK10.45126242
118SGK10.44770343
119CCNB10.44091866
120PTK2B0.43860795
121PRKD20.43424333
122STK160.43372357
123TYK20.43113645
124CDK70.42612459
125PRKD10.42462737
126FRK0.41601146
127CAMK40.39824294
128TRIB30.39234855
129MAP2K20.38864816
130PIM10.37797426
131DMPK0.37231195
132PRKAA20.36251178
133CSF1R0.35604123
134MAPK10.35366372
135TGFBR20.34776832
136RIPK40.34584080
137RPS6KA10.32580048
138BRD40.30276735
139PRKG10.30170498
140FGR0.29889797
141MOS0.29548677
142EPHB20.29469338
143BTK0.29419017
144RPS6KC10.28917339
145RPS6KL10.28917339
146SYK0.28641308
147MAPK30.28010362
148AKT10.27741527
149MARK10.27709314
150PRKCG0.27043546
151PLK30.26975289
152PTK20.26897048
153MAPK150.26775159
154PBK0.26664077
155RPS6KA60.26617349
156SMG10.26589228
157ROCK10.26480310
158DYRK1B0.24167624
159PRKAA10.20403302
160ERBB20.20221160
161MAPK40.19714352
162FGFR30.19256935
163TAF10.19051675
164CAMK1D0.18969467
165AURKB0.18947103
166MAP3K90.18946441
167PRKCQ0.18924324
168PRKCA0.18658943
169MAPK110.18423870
170ROCK20.16384159
171FES0.16147912
172TYRO30.16018974
173CAMK1G0.13359117

Predicted pathways (KEGG)

RankGene SetZ-score
1* Steroid hormone biosynthesis_Homo sapiens_hsa001405.99960033
2Aldosterone synthesis and secretion_Homo sapiens_hsa049253.16692853
3Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.60494971
4Nicotine addiction_Homo sapiens_hsa050332.56288298
5N-Glycan biosynthesis_Homo sapiens_hsa005102.44073767
6Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.26799528
7SNARE interactions in vesicular transport_Homo sapiens_hsa041302.25914247
8PI3K-Akt signaling pathway_Homo sapiens_hsa041512.23802471
9Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.14832348
10Graft-versus-host disease_Homo sapiens_hsa053322.09064305
11Folate biosynthesis_Homo sapiens_hsa007902.05889022
12Toll-like receptor signaling pathway_Homo sapiens_hsa046202.00040521
13Rheumatoid arthritis_Homo sapiens_hsa053231.96095425
14Fanconi anemia pathway_Homo sapiens_hsa034601.94642715
15Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.86620202
16Renin-angiotensin system_Homo sapiens_hsa046141.84544268
17Autoimmune thyroid disease_Homo sapiens_hsa053201.83203378
18NF-kappa B signaling pathway_Homo sapiens_hsa040641.81356496
19Allograft rejection_Homo sapiens_hsa053301.78462084
20Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.68499158
21Intestinal immune network for IgA production_Homo sapiens_hsa046721.65602905
22Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.62015734
23Basal transcription factors_Homo sapiens_hsa030221.58585848
24Type I diabetes mellitus_Homo sapiens_hsa049401.54720982
25ECM-receptor interaction_Homo sapiens_hsa045121.51297579
26Histidine metabolism_Homo sapiens_hsa003401.49215127
27Sphingolipid metabolism_Homo sapiens_hsa006001.49023200
28Measles_Homo sapiens_hsa051621.41889926
29Leishmaniasis_Homo sapiens_hsa051401.41368700
30Morphine addiction_Homo sapiens_hsa050321.40429569
31NOD-like receptor signaling pathway_Homo sapiens_hsa046211.39665009
32Taste transduction_Homo sapiens_hsa047421.37919928
33Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.37055428
34Hematopoietic cell lineage_Homo sapiens_hsa046401.36458828
35RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.34670695
36TGF-beta signaling pathway_Homo sapiens_hsa043501.34258436
37Asthma_Homo sapiens_hsa053101.30313825
38Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.29119818
39Focal adhesion_Homo sapiens_hsa045101.27815081
40Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.25817400
41Phagosome_Homo sapiens_hsa041451.22517212
42Circadian rhythm_Homo sapiens_hsa047101.18723439
43Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.16840236
44Homologous recombination_Homo sapiens_hsa034401.15791286
45Regulation of autophagy_Homo sapiens_hsa041401.11666802
46TNF signaling pathway_Homo sapiens_hsa046681.11485521
47Glycosaminoglycan degradation_Homo sapiens_hsa005311.11097746
48Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.10505355
49Herpes simplex infection_Homo sapiens_hsa051681.10195754
50Tuberculosis_Homo sapiens_hsa051521.09656850
51Primary immunodeficiency_Homo sapiens_hsa053401.09606141
52Serotonergic synapse_Homo sapiens_hsa047261.09000258
53Olfactory transduction_Homo sapiens_hsa047401.08740406
54Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.07298717
55Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.07155145
56Arachidonic acid metabolism_Homo sapiens_hsa005901.05285035
57Synaptic vesicle cycle_Homo sapiens_hsa047211.02941928
58Influenza A_Homo sapiens_hsa051641.02376983
59Mineral absorption_Homo sapiens_hsa049781.00502942
60Salivary secretion_Homo sapiens_hsa049700.99250192
61Renal cell carcinoma_Homo sapiens_hsa052110.98287934
62Other glycan degradation_Homo sapiens_hsa005110.97068862
63Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.94335228
64Complement and coagulation cascades_Homo sapiens_hsa046100.92824104
65Collecting duct acid secretion_Homo sapiens_hsa049660.92142044
66Ether lipid metabolism_Homo sapiens_hsa005650.91432016
67Melanoma_Homo sapiens_hsa052180.90788478
68Calcium signaling pathway_Homo sapiens_hsa040200.90214184
69Sphingolipid signaling pathway_Homo sapiens_hsa040710.89376161
70Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.89297997
71Jak-STAT signaling pathway_Homo sapiens_hsa046300.89095870
72* Ovarian steroidogenesis_Homo sapiens_hsa049130.88769886
73Hedgehog signaling pathway_Homo sapiens_hsa043400.88160375
74Tryptophan metabolism_Homo sapiens_hsa003800.85733513
75African trypanosomiasis_Homo sapiens_hsa051430.84591638
76Legionellosis_Homo sapiens_hsa051340.81882219
77Thyroid hormone synthesis_Homo sapiens_hsa049180.81604390
78Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.79834822
79Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.76801385
80GABAergic synapse_Homo sapiens_hsa047270.75710152
81Malaria_Homo sapiens_hsa051440.75577843
82Small cell lung cancer_Homo sapiens_hsa052220.75570881
83Dorso-ventral axis formation_Homo sapiens_hsa043200.74990514
84HIF-1 signaling pathway_Homo sapiens_hsa040660.74884832
85Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.74661123
86RNA degradation_Homo sapiens_hsa030180.73338269
87Adherens junction_Homo sapiens_hsa045200.73290714
88Proteoglycans in cancer_Homo sapiens_hsa052050.73204819
89Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.72690654
90Glutamatergic synapse_Homo sapiens_hsa047240.69903458
91Non-homologous end-joining_Homo sapiens_hsa034500.69616875
92Circadian entrainment_Homo sapiens_hsa047130.69339621
93Osteoclast differentiation_Homo sapiens_hsa043800.68331976
94Rap1 signaling pathway_Homo sapiens_hsa040150.66647749
95Pertussis_Homo sapiens_hsa051330.66344312
96Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.66246213
97Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.65963484
98Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.65795898
99Staphylococcus aureus infection_Homo sapiens_hsa051500.65771103
100alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.64708372
101Chemokine signaling pathway_Homo sapiens_hsa040620.64401958
102Bladder cancer_Homo sapiens_hsa052190.64303100
103Fatty acid biosynthesis_Homo sapiens_hsa000610.63841894
104Fat digestion and absorption_Homo sapiens_hsa049750.63454952
105Prostate cancer_Homo sapiens_hsa052150.63083782
106Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.62935259
107AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.61598498
108Transcriptional misregulation in cancer_Homo sapiens_hsa052020.59823883
109Base excision repair_Homo sapiens_hsa034100.59687905
110Phosphatidylinositol signaling system_Homo sapiens_hsa040700.56844320
111GnRH signaling pathway_Homo sapiens_hsa049120.56777330
112Tight junction_Homo sapiens_hsa045300.55249859
113Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.55069540
114Hepatitis B_Homo sapiens_hsa051610.54883858
115Vitamin digestion and absorption_Homo sapiens_hsa049770.54874611
116Salmonella infection_Homo sapiens_hsa051320.52458267
117Linoleic acid metabolism_Homo sapiens_hsa005910.52242833
118Apoptosis_Homo sapiens_hsa042100.51690898
119Toxoplasmosis_Homo sapiens_hsa051450.51594554
120Endometrial cancer_Homo sapiens_hsa052130.51499595
121Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.51080514
122Cell cycle_Homo sapiens_hsa041100.49058042
123Endocytosis_Homo sapiens_hsa041440.47951857
124Steroid biosynthesis_Homo sapiens_hsa001000.47543895
125Ras signaling pathway_Homo sapiens_hsa040140.47434617
126Hippo signaling pathway_Homo sapiens_hsa043900.47032486
127Pathways in cancer_Homo sapiens_hsa052000.45213399
128Insulin secretion_Homo sapiens_hsa049110.44733426
129ErbB signaling pathway_Homo sapiens_hsa040120.44334546
130Notch signaling pathway_Homo sapiens_hsa043300.44319237
131Purine metabolism_Homo sapiens_hsa002300.44018245
132Choline metabolism in cancer_Homo sapiens_hsa052310.43933345
133Bile secretion_Homo sapiens_hsa049760.43892174
134Thyroid hormone signaling pathway_Homo sapiens_hsa049190.42844679
135Protein export_Homo sapiens_hsa030600.41363071
136FoxO signaling pathway_Homo sapiens_hsa040680.41292230
137Insulin resistance_Homo sapiens_hsa049310.40074490
138PPAR signaling pathway_Homo sapiens_hsa033200.38519690
139Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.38366906
140Wnt signaling pathway_Homo sapiens_hsa043100.37333129
141Arginine and proline metabolism_Homo sapiens_hsa003300.37172340
142Inositol phosphate metabolism_Homo sapiens_hsa005620.37149880
143cAMP signaling pathway_Homo sapiens_hsa040240.36987124
144Chronic myeloid leukemia_Homo sapiens_hsa052200.36708802
145Regulation of actin cytoskeleton_Homo sapiens_hsa048100.36281021
146Prolactin signaling pathway_Homo sapiens_hsa049170.35895952
147MAPK signaling pathway_Homo sapiens_hsa040100.35452071
148Insulin signaling pathway_Homo sapiens_hsa049100.34000905
149ABC transporters_Homo sapiens_hsa020100.33906905
150Phospholipase D signaling pathway_Homo sapiens_hsa040720.33322133
151Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.33175361
152Axon guidance_Homo sapiens_hsa043600.32320626
153Amoebiasis_Homo sapiens_hsa051460.32196740
154Type II diabetes mellitus_Homo sapiens_hsa049300.30185635
155Lysosome_Homo sapiens_hsa041420.28945569
156Phenylalanine metabolism_Homo sapiens_hsa003600.27340820
157Acute myeloid leukemia_Homo sapiens_hsa052210.26743411
158Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.23939998
159MicroRNAs in cancer_Homo sapiens_hsa052060.23923544
160Estrogen signaling pathway_Homo sapiens_hsa049150.22220245
161Longevity regulating pathway - mammal_Homo sapiens_hsa042110.22137332
162Hepatitis C_Homo sapiens_hsa051600.21867026
163Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.19343188
164Prion diseases_Homo sapiens_hsa050200.19300717
165Galactose metabolism_Homo sapiens_hsa000520.17565544
166Platelet activation_Homo sapiens_hsa046110.16357364
167Adipocytokine signaling pathway_Homo sapiens_hsa049200.15012692
168Gastric acid secretion_Homo sapiens_hsa049710.14405895
169Leukocyte transendothelial migration_Homo sapiens_hsa046700.14094368
170* Metabolic pathways_Homo sapiens_hsa011000.13136266
171AMPK signaling pathway_Homo sapiens_hsa041520.12730719
172Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.11645062
173Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.09682342

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