PTGER1

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





Description: The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1GDP-mannose metabolic process (GO:0019673)6.74775081
2negative regulation of cell aging (GO:0090344)6.22987612
3positive regulation of gamma-delta T cell activation (GO:0046645)5.92834172
4antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.62587248
5antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.62587248
6UV protection (GO:0009650)5.51088255
7antigen processing and presentation of endogenous antigen (GO:0019883)5.25813701
8negative regulation of cell killing (GO:0031342)5.18829736
9negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.18829736
10regulation of gamma-delta T cell differentiation (GO:0045586)5.14385716
11cellular response to ATP (GO:0071318)5.09392484
12adenine nucleotide transport (GO:0051503)4.99537829
13positive thymic T cell selection (GO:0045059)4.79937103
14regulation of skeletal muscle contraction (GO:0014819)4.77356429
15regulation of gamma-delta T cell activation (GO:0046643)4.73101993
16purine ribonucleotide transport (GO:0015868)4.71584344
17protein carboxylation (GO:0018214)4.70402166
18peptidyl-glutamic acid carboxylation (GO:0017187)4.70402166
19adenosine receptor signaling pathway (GO:0001973)4.64998554
20protein retention in ER lumen (GO:0006621)4.60221144
21melanin biosynthetic process (GO:0042438)4.59128045
22lens fiber cell differentiation (GO:0070306)4.53627729
23DNA strand renaturation (GO:0000733)4.42161979
24type B pancreatic cell proliferation (GO:0044342)4.36615175
25protein heterotrimerization (GO:0070208)4.22943457
26maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.22939974
27regulation of B cell receptor signaling pathway (GO:0050855)4.21226153
28nucleotide-sugar biosynthetic process (GO:0009226)4.14437565
29kidney mesenchyme development (GO:0072074)3.99686902
30positive regulation of histone deacetylation (GO:0031065)3.98417967
31melanin metabolic process (GO:0006582)3.97260255
32hyaluronan catabolic process (GO:0030214)3.89744891
33positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.87697330
34skin morphogenesis (GO:0043589)3.84962737
35rRNA methylation (GO:0031167)3.84861512
36thymic T cell selection (GO:0045061)3.83989579
37antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.82146363
38positive regulation of protein kinase C signaling (GO:0090037)3.80491327
39nucleotide transmembrane transport (GO:1901679)3.80101343
40purine nucleotide transport (GO:0015865)3.77019559
41positive T cell selection (GO:0043368)3.76733558
42proline biosynthetic process (GO:0006561)3.72760155
43respiratory tube development (GO:0030323)3.72494863
44B cell receptor signaling pathway (GO:0050853)3.72099430
45negative thymic T cell selection (GO:0045060)3.72066132
46regulation of interferon-beta biosynthetic process (GO:0045357)3.69902949
47negative T cell selection (GO:0043383)3.68878472
48positive regulation by symbiont of host defense response (GO:0052509)3.68855978
49modulation by symbiont of host defense response (GO:0052031)3.68855978
50modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.68855978
51modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.68855978
52positive regulation by organism of defense response of other organism involved in symbiotic interact3.68855978
53modulation by symbiont of host immune response (GO:0052553)3.68855978
54nucleoside transmembrane transport (GO:1901642)3.67186212
55response to gravity (GO:0009629)3.66802796
56positive regulation of B cell differentiation (GO:0045579)3.64502990
57regulation of interleukin-12 biosynthetic process (GO:0045075)3.63289018
58planar cell polarity pathway involved in neural tube closure (GO:0090179)3.61090647
59G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.59088904
60basement membrane organization (GO:0071711)3.56431101
61meiotic chromosome segregation (GO:0045132)3.56417854
62leukocyte aggregation (GO:0070486)3.55198102
63regulation of cell aging (GO:0090342)3.53122037
64mannose metabolic process (GO:0006013)3.51246400
65T cell selection (GO:0045058)3.50528930
66secondary metabolite biosynthetic process (GO:0044550)3.45380787
67regulation of B cell differentiation (GO:0045577)3.44968191
68regulation of synapse structural plasticity (GO:0051823)3.44001090
69extracellular matrix assembly (GO:0085029)3.40663781
70endocardial cushion development (GO:0003197)3.38472417
71estrogen biosynthetic process (GO:0006703)3.34705743
72JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)3.32721435
73tolerance induction (GO:0002507)3.31866689
74mesenchymal-epithelial cell signaling (GO:0060638)3.31828923
75response to interleukin-15 (GO:0070672)3.30277306
76cell migration involved in heart development (GO:0060973)3.29375575
77negative regulation of granulocyte differentiation (GO:0030853)3.24531145
78rRNA modification (GO:0000154)3.22481657
79regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.21776747
80negative regulation of erythrocyte differentiation (GO:0045647)3.17180640
81base-excision repair, AP site formation (GO:0006285)3.15423849
82antigen processing and presentation via MHC class Ib (GO:0002475)3.15147557
83regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.14522742
84leukocyte cell-cell adhesion (GO:0007159)3.10227921
85tooth mineralization (GO:0034505)3.10035511
86macrophage activation involved in immune response (GO:0002281)3.08946333
87regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.08654971
88endocytic recycling (GO:0032456)3.05277927
89positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)3.02943697
90purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.01082158
913-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.01082158
92response to laminar fluid shear stress (GO:0034616)3.00937061
93negative regulation of phagocytosis (GO:0050765)3.00275581
94cellular extravasation (GO:0045123)3.00045124
95bone trabecula formation (GO:0060346)2.99536576
96natural killer cell differentiation (GO:0001779)2.98715303
97negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.97795464
98response to ATP (GO:0033198)2.96558065
99lung vasculature development (GO:0060426)2.94594616
100histone phosphorylation (GO:0016572)2.94579512
101protein maturation by protein folding (GO:0022417)2.94157971
102T cell migration (GO:0072678)2.93317212
103metanephric mesenchyme development (GO:0072075)2.93025751
104pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.92989417
105establishment of apical/basal cell polarity (GO:0035089)2.92802200
106purine nucleoside bisphosphate biosynthetic process (GO:0034033)2.91122833
107ribonucleoside bisphosphate biosynthetic process (GO:0034030)2.91122833
108nucleoside bisphosphate biosynthetic process (GO:0033866)2.91122833
109cochlea morphogenesis (GO:0090103)2.90984034
110positive regulation of protein deacetylation (GO:0090312)2.89093140
111G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.88695233
112response to muramyl dipeptide (GO:0032495)2.88027798
113urinary tract smooth muscle contraction (GO:0014848)2.86532157
114regulation of fatty acid beta-oxidation (GO:0031998)2.84806199
115actin filament bundle organization (GO:0061572)2.83150854
116actin filament bundle assembly (GO:0051017)2.83150854
117regulation of T cell tolerance induction (GO:0002664)2.82911397
118apoptotic cell clearance (GO:0043277)2.80538063
119sex determination (GO:0007530)2.80478574
120stress fiber assembly (GO:0043149)2.80150685
121misfolded or incompletely synthesized protein catabolic process (GO:0006515)2.78737613
122COPI coating of Golgi vesicle (GO:0048205)2.78559776
123Golgi transport vesicle coating (GO:0048200)2.78559776
124embryonic skeletal joint morphogenesis (GO:0060272)2.77330715
125negative regulation of bone resorption (GO:0045779)2.77169553
126atrioventricular valve morphogenesis (GO:0003181)2.77014724
127cell-substrate adherens junction assembly (GO:0007045)2.75400122
128focal adhesion assembly (GO:0048041)2.75400122
129positive regulation of antigen processing and presentation (GO:0002579)2.73539227
130C21-steroid hormone biosynthetic process (GO:0006700)2.73367828
131nucleoside transport (GO:0015858)2.73310507
132Arp2/3 complex-mediated actin nucleation (GO:0034314)2.72713290
133positive regulation of interferon-alpha production (GO:0032727)2.72255389
134cortical actin cytoskeleton organization (GO:0030866)2.72091520
135antigen receptor-mediated signaling pathway (GO:0050851)2.72069963
136regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.71873727
137negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.71267651
138cellular response to zinc ion (GO:0071294)2.70929891
139semaphorin-plexin signaling pathway (GO:0071526)2.70418704
140negative regulation of interleukin-12 production (GO:0032695)2.68498139
141lung morphogenesis (GO:0060425)2.67841444
142positive regulation of Rap GTPase activity (GO:0032854)2.66632501
143regulation of type I interferon-mediated signaling pathway (GO:0060338)2.65726235
144T cell costimulation (GO:0031295)2.62208212
145positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.61653183
146sphingomyelin metabolic process (GO:0006684)2.60163058
147interferon-gamma production (GO:0032609)2.59109132
148regulation of interferon-alpha production (GO:0032647)2.58854145
149sensory perception of taste (GO:0050909)2.58100095
150adherens junction assembly (GO:0034333)2.57115306
151pyrimidine nucleotide catabolic process (GO:0006244)2.56982805
152NIK/NF-kappaB signaling (GO:0038061)2.55668847
153response to type I interferon (GO:0034340)2.55657123
154lymphocyte costimulation (GO:0031294)2.55594464
155purinergic nucleotide receptor signaling pathway (GO:0035590)2.53959734
156cellular response to vitamin (GO:0071295)2.53694018
157T cell receptor signaling pathway (GO:0050852)2.52550164
158positive regulation of lamellipodium assembly (GO:0010592)2.50125468
159negative regulation of interleukin-6 production (GO:0032715)2.48996066
160cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.48493209
161immunoglobulin mediated immune response (GO:0016064)2.48465162
162regulation of cytokine production involved in inflammatory response (GO:1900015)2.48243499
163mature B cell differentiation (GO:0002335)2.48091605
164germinal center formation (GO:0002467)2.47574820
165pinocytosis (GO:0006907)2.47261862
166Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.46972888
167positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.45457012
168cellular response to interleukin-15 (GO:0071350)2.44761690
169cell-substrate junction assembly (GO:0007044)2.44627686
170T cell homeostasis (GO:0043029)2.44363271
171interferon-gamma-mediated signaling pathway (GO:0060333)2.43615841
172positive regulation of tolerance induction (GO:0002645)2.43584919
173positive regulation of natural killer cell differentiation (GO:0032825)2.42970479
174cellular response to type I interferon (GO:0071357)2.42822884
175type I interferon signaling pathway (GO:0060337)2.42822884
176positive regulation of catecholamine secretion (GO:0033605)2.42242744
177myeloid cell activation involved in immune response (GO:0002275)2.42084059
178proline metabolic process (GO:0006560)2.41729703
179lymphocyte homeostasis (GO:0002260)2.41487554
180neutrophil activation (GO:0042119)2.41411146
181monoubiquitinated protein deubiquitination (GO:0035520)2.41316992
182B cell homeostasis (GO:0001782)2.41124557
183regulation of integrin activation (GO:0033623)2.40653146
184immune response-activating cell surface receptor signaling pathway (GO:0002429)2.40556436
185growth hormone receptor signaling pathway (GO:0060396)2.39978398
186respiratory burst (GO:0045730)2.39777886
187regulation of response to interferon-gamma (GO:0060330)2.39495836
188regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.38781925
189response to fluid shear stress (GO:0034405)2.38628842
190activated T cell proliferation (GO:0050798)2.38482721
191germ cell migration (GO:0008354)2.38365939
192T cell proliferation (GO:0042098)2.38165357
193positive regulation of lamellipodium organization (GO:1902745)2.37681136
194neutrophil activation involved in immune response (GO:0002283)2.35164183
195adaptation of signaling pathway (GO:0023058)2.35094180
196regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.34946564
197regulation of granulocyte differentiation (GO:0030852)2.34625423
198I-kappaB phosphorylation (GO:0007252)2.33147415

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.08713941
2IRF8_22096565_ChIP-ChIP_GC-B_Human3.79605619
3MYC_22102868_ChIP-Seq_BL_Human3.52664421
4FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.51955969
5NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.44341347
6EGR1_19374776_ChIP-ChIP_THP-1_Human3.22366554
7VDR_21846776_ChIP-Seq_THP-1_Human3.15014970
8MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.03127002
9IRF8_21731497_ChIP-ChIP_J774_Mouse2.70940716
10TCF7_22412390_ChIP-Seq_EML_Mouse2.68861712
11SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.67011187
12PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.66701707
13BP1_19119308_ChIP-ChIP_Hs578T_Human2.66088365
14IRF8_27001747_Chip-Seq_BMDM_Mouse2.55024310
15NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.52546995
16MAF_26560356_Chip-Seq_TH1_Human2.49086031
17P68_20966046_ChIP-Seq_HELA_Human2.45670718
18KDM2B_26808549_Chip-Seq_SUP-B15_Human2.45640765
19RUNX_20019798_ChIP-Seq_JUKART_Human2.40809095
20KDM2B_26808549_Chip-Seq_DND41_Human2.38826293
21SCL_19346495_ChIP-Seq_HPC-7_Human2.37915962
22MYB_21317192_ChIP-Seq_ERMYB_Mouse2.37578402
23FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.35555952
24DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.34599403
25UTX_26944678_Chip-Seq_JUKART_Human2.29420290
26VDR_24763502_ChIP-Seq_THP-1_Human2.28646688
27KDM2B_26808549_Chip-Seq_SIL-ALL_Human2.24795118
28IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.24720163
29STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.22067732
30KDM2B_26808549_Chip-Seq_HPB-ALL_Human2.20375903
31ELK3_25401928_ChIP-Seq_HUVEC_Human2.20141562
32IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.19488812
33TET1_21451524_ChIP-Seq_MESCs_Mouse2.17146686
34MYB_26560356_Chip-Seq_TH2_Human2.17111358
35SPI1_23127762_ChIP-Seq_K562_Human2.16145674
36E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.15146104
37BRD4_27068464_Chip-Seq_AML-cells_Mouse2.11649837
38NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.10664863
39TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.07044145
40XRN2_22483619_ChIP-Seq_HELA_Human1.98298977
41ERG_21242973_ChIP-ChIP_JURKAT_Human1.97371237
42MYB_26560356_Chip-Seq_TH1_Human1.95634607
43CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.93358981
44TP53_22127205_ChIP-Seq_IMR90_Human1.93051619
45RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.92363410
46RUNX1_22412390_ChIP-Seq_EML_Mouse1.90228664
47SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.88718590
48VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.87356936
49* CTCF_27219007_Chip-Seq_Bcells_Human1.82137630
50BCL6_27268052_Chip-Seq_Bcells_Human1.80900521
51STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.80126353
52* CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.78459524
53STAT4_19710469_ChIP-ChIP_TH1__Mouse1.75763095
54SA1_27219007_Chip-Seq_ERYTHROID_Human1.74646984
55MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.71033191
56SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.70895672
57THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.70402483
58TRIM28_21343339_ChIP-Seq_HEK293_Human1.69791595
59UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.68447053
60* LXR_22292898_ChIP-Seq_THP-1_Human1.68147981
61RARA_24833708_ChIP-Seq_LIVER_Mouse1.67764949
62SMC4_20622854_ChIP-Seq_HELA_Human1.64889115
63BCOR_27268052_Chip-Seq_Bcells_Human1.64559579
64SPI1_23547873_ChIP-Seq_NB4_Human1.63792797
65E2F1_20622854_ChIP-Seq_HELA_Human1.63691965
66SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.63606412
67RARB_24833708_ChIP-Seq_LIVER_Mouse1.62904411
68SRY_22984422_ChIP-ChIP_TESTIS_Rat1.62217901
69ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.58711187
70MAF_26560356_Chip-Seq_TH2_Human1.58267960
71ELF1_20517297_ChIP-Seq_JURKAT_Human1.57448360
72TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.56915624
73PHF8_20622854_ChIP-Seq_HELA_Human1.56292531
74* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.55583860
75FOXP1_21924763_ChIP-Seq_HESCs_Human1.54900603
76DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.54719968
77CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.53295848
78RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.52649968
79* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.51731850
80KDM2B_26808549_Chip-Seq_JURKAT_Human1.50058220
81* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.49475168
82Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.49103455
83* CTCF_21964334_Chip-Seq_Bcells_Human1.45917605
84TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.45495215
85ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.43812145
86* ATF3_27146783_Chip-Seq_COLON_Human1.43234397
87JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.42881791
88UBF1/2_26484160_Chip-Seq_HMECs_Human1.42102082
89GATA3_27048872_Chip-Seq_THYMUS_Human1.40889266
90RXRA_24833708_ChIP-Seq_LIVER_Mouse1.39582932
91GATA1_19941827_ChIP-Seq_MEL_Mouse1.39138344
92SMC1_22415368_ChIP-Seq_MEFs_Mouse1.38985915
93MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.38702359
94NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.37412653
95* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.37122058
96SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.36581231
97CTCF_20526341_ChIP-Seq_ESCs_Human1.32859691
98TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.30415207
99PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.28425069
100CREB1_26743006_Chip-Seq_LNCaP_Human1.26996627
101NCOR1_26117541_ChIP-Seq_K562_Human1.26803931
102FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.26694146
103RARG_19884340_ChIP-ChIP_MEFs_Mouse1.26417129
104PU_27001747_Chip-Seq_BMDM_Mouse1.26270661
105GATA2_21666600_ChIP-Seq_HMVEC_Human1.26059782
106RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.25725477
107SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.24127072
108TP63_17297297_ChIP-ChIP_HaCaT_Human1.23447360
109RACK7_27058665_Chip-Seq_MCF-7_Human1.23164073
110TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.23054865
111PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.22331243
112CLOCK_20551151_ChIP-Seq_293T_Human1.19524061
113GATA1_22383799_ChIP-Seq_G1ME_Mouse1.18972007
114GATA1_19941826_ChIP-Seq_K562_Human1.18262097
115SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.18083252
116GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.18053722
117ESR2_21235772_ChIP-Seq_MCF-7_Human1.16343971
118HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.16027238
119IKZF1_21737484_ChIP-ChIP_HCT116_Human1.15926714
120DNAJC2_21179169_ChIP-ChIP_NT2_Human1.15697391
121P300_27058665_Chip-Seq_ZR-75-30cells_Human1.15092700
122* CTCF_21964334_ChIP-Seq_BJAB-B_Human1.15035895
123SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.15003750
124SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.14936960
125KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.13486178
126TP53_23651856_ChIP-Seq_MEFs_Mouse1.12606848
127CTCF_26484167_Chip-Seq_Bcells_Mouse1.11421862
128PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.10201921
129KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.10056120
130KDM2B_26808549_Chip-Seq_K562_Human1.09508903
131* ETS1_21867929_ChIP-Seq_TH2_Mouse1.09486475
132* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.09454096
133* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.09156618
134VDR_24787735_ChIP-Seq_THP-1_Human1.07929525
135GATA1_22025678_ChIP-Seq_K562_Human1.07879043
136TP63_22573176_ChIP-Seq_HFKS_Human1.07826619
137GATA2_19941826_ChIP-Seq_K562_Human1.07463110
138DCP1A_22483619_ChIP-Seq_HELA_Human1.07236760
139FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.06996514
140CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.06818427
141STAT6_21828071_ChIP-Seq_BEAS2B_Human1.06646823
142* JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.06603260
143LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.06566619
144TBX5_21415370_ChIP-Seq_HL-1_Mouse1.06513137
145* SA1_27219007_Chip-Seq_Bcells_Human1.06139435
146ZNF263_19887448_ChIP-Seq_K562_Human1.04605620
147P63_26484246_Chip-Seq_KERATINOCYTES_Human1.04409479
148GABP_19822575_ChIP-Seq_HepG2_Human1.03324330
149HIF1A_21447827_ChIP-Seq_MCF-7_Human1.03118821
150ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.03012526
151MYC_18358816_ChIP-ChIP_MESCs_Mouse1.02419551
152EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.01859310
153* RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.00975528
154PU.1_20513432_ChIP-Seq_Bcells_Mouse1.00046047
155GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99623817
156CIITA_25753668_ChIP-Seq_RAJI_Human0.98952508
157FOXO3_23340844_ChIP-Seq_DLD1_Human0.97863736
158CTCF_27219007_Chip-Seq_ERYTHROID_Human0.97769170
159TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.97582280
160TBX20_22328084_ChIP-Seq_HEART_Mouse0.96483493
161TBX20_22080862_ChIP-Seq_HEART_Mouse0.96483493
162DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.95102449
163EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.94508222
164FOXM1_23109430_ChIP-Seq_U2OS_Human0.94268814
165CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.93084400
166GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.92571715
167RUNX1_27514584_Chip-Seq_MCF-7_Human0.92387634
168SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.90113625
169CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.88228444
170RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84993489
171TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.84053440

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005171_absent_coat_pigmentation5.36941084
2MP0001986_abnormal_taste_sensitivity3.97730918
3MP0003303_peritoneal_inflammation3.40601297
4MP0003136_yellow_coat_color3.31291840
5MP0003300_gastrointestinal_ulcer3.19208449
6MP0000751_myopathy2.97400761
7MP0001835_abnormal_antigen_presentation2.91893077
8MP0005409_darkened_coat_color2.87762939
9MP0009278_abnormal_bone_marrow2.82634610
10MP0001661_extended_life_span2.82036062
11MP0005257_abnormal_intraocular_pressure2.81671109
12MP0005387_immune_system_phenotype2.78754858
13MP0001790_abnormal_immune_system2.78754858
14MP0000685_abnormal_immune_system2.69733790
15MP0001800_abnormal_humoral_immune2.58482027
16MP0004510_myositis2.55852171
17MP0005423_abnormal_somatic_nervous2.52638593
18MP0003436_decreased_susceptibility_to2.50857877
19MP0009384_cardiac_valve_regurgitation2.44112790
20MP0001188_hyperpigmentation2.43729898
21MP0005503_abnormal_tendon_morphology2.35176453
22MP0002452_abnormal_antigen_presenting2.31020024
23MP0005083_abnormal_biliary_tract2.30575230
24MP0005058_abnormal_lysosome_morphology2.27025465
25MP0003763_abnormal_thymus_physiology2.23487962
26MP0005000_abnormal_immune_tolerance2.22611187
27MP0002166_altered_tumor_susceptibility2.14455502
28MP0002420_abnormal_adaptive_immunity2.13629475
29MP0005671_abnormal_response_to2.13101241
30MP0001819_abnormal_immune_cell2.11984396
31MP0000013_abnormal_adipose_tissue2.10728827
32* MP0002723_abnormal_immune_serum2.08868941
33MP0002419_abnormal_innate_immunity2.08572684
34MP0005464_abnormal_platelet_physiology2.05043177
35MP0000538_abnormal_urinary_bladder1.98160645
36MP0003705_abnormal_hypodermis_morpholog1.95089392
37MP0004808_abnormal_hematopoietic_stem1.94282923
38MP0001542_abnormal_bone_strength1.94129088
39* MP0002398_abnormal_bone_marrow1.93358910
40MP0002396_abnormal_hematopoietic_system1.93295652
41MP0001873_stomach_inflammation1.92079728
42MP0004272_abnormal_basement_membrane1.89725633
43* MP0005025_abnormal_response_to1.88529147
44MP0003566_abnormal_cell_adhesion1.85851267
45MP0004947_skin_inflammation1.85687826
46MP0002405_respiratory_system_inflammati1.84951501
47MP0003172_abnormal_lysosome_physiology1.84376035
48MP0005623_abnormal_meninges_morphology1.81455604
49* MP0000716_abnormal_immune_system1.76430559
50MP0000569_abnormal_digit_pigmentation1.74776161
51MP0000015_abnormal_ear_pigmentation1.73088638
52MP0001545_abnormal_hematopoietic_system1.68396523
53MP0005397_hematopoietic_system_phenotyp1.68396523
54MP0000689_abnormal_spleen_morphology1.67983063
55MP0008961_abnormal_basal_metabolism1.63289112
56MP0009785_altered_susceptibility_to1.61692403
57MP0010155_abnormal_intestine_physiology1.60430058
58MP0000750_abnormal_muscle_regeneration1.59291278
59MP0005076_abnormal_cell_differentiation1.59210304
60MP0003191_abnormal_cellular_cholesterol1.58790605
61* MP0002722_abnormal_immune_system1.57699575
62MP0010030_abnormal_orbit_morphology1.57286084
63MP0002933_joint_inflammation1.53858083
64MP0006082_CNS_inflammation1.53659585
65MP0001533_abnormal_skeleton_physiology1.50411329
66MP0001845_abnormal_inflammatory_respons1.49110853
67MP0000003_abnormal_adipose_tissue1.48787087
68MP0000703_abnormal_thymus_morphology1.48373914
69* MP0002429_abnormal_blood_cell1.47249435
70MP0009333_abnormal_splenocyte_physiolog1.45183529
71* MP0001756_abnormal_urination1.44853856
72* MP0002148_abnormal_hypersensitivity_rea1.44773409
73MP0002006_tumorigenesis1.44492363
74MP0000465_gastrointestinal_hemorrhage1.43233541
75MP0003866_abnormal_defecation1.41564781
76MP0005330_cardiomyopathy1.36542080
77MP0010352_gastrointestinal_tract_polyps1.35174380
78MP0005275_abnormal_skin_tensile1.28869044
79MP0003279_aneurysm1.28176132
80MP0008875_abnormal_xenobiotic_pharmacok1.27758623
81MP0010386_abnormal_urinary_bladder1.25976103
82MP0009840_abnormal_foam_cell1.25410342
83MP0003091_abnormal_cell_migration1.25292594
84MP0000534_abnormal_ureter_morphology1.23491502
85MP0002998_abnormal_bone_remodeling1.22918257
86MP0001299_abnormal_eye_distance/1.22900418
87MP0002060_abnormal_skin_morphology1.21922637
88MP0003724_increased_susceptibility_to1.20954105
89MP0003045_fibrosis1.20782364
90MP0004185_abnormal_adipocyte_glucose1.19941716
91MP0001853_heart_inflammation1.19122017
92MP0005023_abnormal_wound_healing1.18532569
93MP0005508_abnormal_skeleton_morphology1.16945457
94MP0001664_abnormal_digestion1.16306155
95MP0005310_abnormal_salivary_gland1.15902117
96MP0005332_abnormal_amino_acid1.15858198
97MP0003942_abnormal_urinary_system1.14344907
98MP0003453_abnormal_keratinocyte_physiol1.14235083
99MP0001243_abnormal_dermal_layer1.14005884
100MP0003183_abnormal_peptide_metabolism1.13983914
101MP0001958_emphysema1.13648358
102MP0002877_abnormal_melanocyte_morpholog1.13015345
103MP0004130_abnormal_muscle_cell1.11111242
104MP0003828_pulmonary_edema1.09834034
105MP0005670_abnormal_white_adipose1.09098289
106MP0000747_muscle_weakness1.07194864
107MP0001849_ear_inflammation1.06644618
108MP0001502_abnormal_circadian_rhythm1.06374286
109MP0005174_abnormal_tail_pigmentation1.05084273
110MP0008469_abnormal_protein_level1.03381245
111MP0010307_abnormal_tumor_latency1.02979330
112MP0001348_abnormal_lacrimal_gland1.01719543
113MP0001851_eye_inflammation1.00337119
114MP0000767_abnormal_smooth_muscle0.97462754
115MP0005501_abnormal_skin_physiology0.97273790
116MP0009780_abnormal_chondrocyte_physiolo0.95509077
117MP0000858_altered_metastatic_potential0.94268606
118MP0001270_distended_abdomen0.93568236
119MP0000343_altered_response_to0.93351699
120* MP0003448_altered_tumor_morphology0.93271282
121MP0008438_abnormal_cutaneous_collagen0.93049335
122MP0001879_abnormal_lymphatic_vessel0.92114756
123MP0000733_abnormal_muscle_development0.92040969
124MP0004858_abnormal_nervous_system0.91021300
125MP0009250_abnormal_appendicular_skeleto0.90992941
126MP0002896_abnormal_bone_mineralization0.90180497
127MP0003111_abnormal_nucleus_morphology0.89926781
128MP0004084_abnormal_cardiac_muscle0.87829089
129MP0005666_abnormal_adipose_tissue0.87165520
130MP0002160_abnormal_reproductive_system0.86386067
131MP0010630_abnormal_cardiac_muscle0.86054869
132MP0002177_abnormal_outer_ear0.85790785
133MP0000759_abnormal_skeletal_muscle0.85371428
134MP0000249_abnormal_blood_vessel0.83607341
135MP0002138_abnormal_hepatobiliary_system0.83206105
136MP0002928_abnormal_bile_duct0.82281899
137MP0003646_muscle_fatigue0.82233288
138MP0003941_abnormal_skin_development0.81496323
139MP0003795_abnormal_bone_structure0.79508452
140MP0005375_adipose_tissue_phenotype0.77742074
141MP0000490_abnormal_crypts_of0.76322474
142MP0000604_amyloidosis0.75888068
143MP0003075_altered_response_to0.75593586
144MP0000681_abnormal_thyroid_gland0.75552502
145MP0001765_abnormal_ion_homeostasis0.75492706
146MP0000537_abnormal_urethra_morphology0.74738755
147MP0005166_decreased_susceptibility_to0.74423913
148* MP0002136_abnormal_kidney_physiology0.74331997
149MP0010368_abnormal_lymphatic_system0.72397169
150MP0002295_abnormal_pulmonary_circulatio0.71269112
151MP0005167_abnormal_blood-brain_barrier0.70875399
152MP0004087_abnormal_muscle_fiber0.70675462
153MP0009931_abnormal_skin_appearance0.69822106
154MP0005390_skeleton_phenotype0.68473692
155MP0003755_abnormal_palate_morphology0.68351208
156MP0002932_abnormal_joint_morphology0.67716114
157MP0003329_amyloid_beta_deposits0.67574375
158MP0005197_abnormal_uvea_morphology0.67397686
159MP0006054_spinal_hemorrhage0.65706519
160MP0009053_abnormal_anal_canal0.65299963
161MP0003385_abnormal_body_wall0.65085229
162MP0000049_abnormal_middle_ear0.64821964
163MP0002128_abnormal_blood_circulation0.64439566
164MP0000358_abnormal_cell_content/0.62676742
165MP0005220_abnormal_exocrine_pancreas0.61126384
166MP0002249_abnormal_larynx_morphology0.60221244
167MP0002254_reproductive_system_inflammat0.58465031
168MP0003137_abnormal_impulse_conducting0.58241709
169MP0002115_abnormal_skeleton_extremities0.55259010
170MP0000163_abnormal_cartilage_morphology0.54485481
171MP0000639_abnormal_adrenal_gland0.54355234
172MP0000678_abnormal_parathyroid_gland0.54011362
173MP0000470_abnormal_stomach_morphology0.53982835
174* MP0005584_abnormal_enzyme/coenzyme_acti0.53408781
175MP0005595_abnormal_vascular_smooth0.52303364
176MP0000367_abnormal_coat/_hair0.51379994

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)5.00355774
2Testicular atrophy (HP:0000029)4.88614759
3Protrusio acetabuli (HP:0003179)4.68602497
4Coronal craniosynostosis (HP:0004440)4.60368670
5Cutaneous melanoma (HP:0012056)4.58854322
6Annular pancreas (HP:0001734)4.42268121
7Turricephaly (HP:0000262)4.24583495
8Thin bony cortex (HP:0002753)4.23190946
9Joint stiffness (HP:0001387)3.95848436
10Eczematoid dermatitis (HP:0000976)3.93336841
11Recurrent abscess formation (HP:0002722)3.82240598
12Rib fusion (HP:0000902)3.74229941
13Poikiloderma (HP:0001029)3.58167777
14Recurrent viral infections (HP:0004429)3.52905683
15Recurrent fungal infections (HP:0002841)3.45824797
16Cerebral aneurysm (HP:0004944)3.42760938
17Cellulitis (HP:0100658)3.38624437
18Bowing of the arm (HP:0006488)3.37588210
19Bowed forearm bones (HP:0003956)3.37588210
20Colitis (HP:0002583)3.34772545
21Recurrent bacterial skin infections (HP:0005406)3.30317441
22Inflammation of the large intestine (HP:0002037)3.23246884
23Gastrointestinal inflammation (HP:0004386)3.18699354
24Abnormality of the fingertips (HP:0001211)3.17818222
25Rectovaginal fistula (HP:0000143)3.15915337
26Rectal fistula (HP:0100590)3.15915337
27Abnormal delayed hypersensitivity skin test (HP:0002963)3.09196944
28Spontaneous hematomas (HP:0007420)3.06476338
29Vaginal fistula (HP:0004320)3.05715836
30Facial diplegia (HP:0001349)3.04367144
31Autoimmune thrombocytopenia (HP:0001973)3.03904823
32Genu recurvatum (HP:0002816)3.03415907
33Vascular tortuosity (HP:0004948)3.01279549
34Chronic otitis media (HP:0000389)2.99571907
35Abnormality of the intrinsic pathway (HP:0010989)2.99169335
36Abnormality of the nasal mucosa (HP:0000433)2.96977324
37Aplasia of the musculature (HP:0100854)2.96636831
38Ankle contracture (HP:0006466)2.93400503
39Verrucae (HP:0200043)2.93162214
40Papilloma (HP:0012740)2.93162214
41Intestinal fistula (HP:0100819)2.93148337
42Hematochezia (HP:0002573)2.89092870
43Nasal polyposis (HP:0100582)2.88767227
44Elevated erythrocyte sedimentation rate (HP:0003565)2.87951781
45IgM deficiency (HP:0002850)2.82762506
46Akinesia (HP:0002304)2.82089490
47Dysostosis multiplex (HP:0000943)2.73016734
48Panhypogammaglobulinemia (HP:0003139)2.72833926
49Recurrent bronchitis (HP:0002837)2.72244358
50Arterial tortuosity (HP:0005116)2.70133976
51Aortic aneurysm (HP:0004942)2.67488264
52T lymphocytopenia (HP:0005403)2.65402095
53Mesangial abnormality (HP:0001966)2.65093834
54Agammaglobulinemia (HP:0004432)2.64262944
55Pustule (HP:0200039)2.64236821
56Interstitial pulmonary disease (HP:0006530)2.62806000
57Increased cerebral lipofuscin (HP:0011813)2.61711245
58Facial hemangioma (HP:0000329)2.59140376
59Type 1 muscle fiber predominance (HP:0003803)2.57713540
60Bladder diverticulum (HP:0000015)2.56211368
61Squamous cell carcinoma (HP:0002860)2.53154923
62Popliteal pterygium (HP:0009756)2.52973571
63Abnormality of T cell number (HP:0011839)2.52207988
64Myositis (HP:0100614)2.51593045
65Soft skin (HP:0000977)2.51009391
66Recurrent cutaneous fungal infections (HP:0011370)2.49031863
67Chronic mucocutaneous candidiasis (HP:0002728)2.49031863
68Increased density of long bones (HP:0006392)2.48744622
69Prolonged bleeding time (HP:0003010)2.41688230
70Recurrent skin infections (HP:0001581)2.41503635
71Narrow nasal bridge (HP:0000446)2.41174417
72Hemorrhage of the eye (HP:0011885)2.40885201
73Vertebral compression fractures (HP:0002953)2.40693703
74Urinary glycosaminoglycan excretion (HP:0003541)2.40210669
75Mucopolysacchariduria (HP:0008155)2.40210669
76Aortic dissection (HP:0002647)2.39081919
77Recurrent gram-negative bacterial infections (HP:0005420)2.37988062
78Delayed epiphyseal ossification (HP:0002663)2.37642866
79Rectal prolapse (HP:0002035)2.37172662
80Meningitis (HP:0001287)2.36586149
81Neonatal onset (HP:0003623)2.36492027
82Impaired platelet aggregation (HP:0003540)2.34262055
83Abnormal platelet function (HP:0011869)2.34262055
84Dyschromatopsia (HP:0007641)2.32946406
85Mediastinal lymphadenopathy (HP:0100721)2.32375392
86Elbow flexion contracture (HP:0002987)2.31085972
87Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.30609021
88Abnormality of mucopolysaccharide metabolism (HP:0011020)2.30463509
89Abnormality of polysaccharide metabolism (HP:0011012)2.30463509
90Abnormality of glycosaminoglycan metabolism (HP:0004371)2.30463509
91Emphysema (HP:0002097)2.30262385
92Asymmetric septal hypertrophy (HP:0001670)2.29757022
93Follicular hyperkeratosis (HP:0007502)2.28694784
94Wormian bones (HP:0002645)2.26400625
95Decreased circulating renin level (HP:0003351)2.26203525
96Broad metatarsal (HP:0001783)2.24870555
97Frequent falls (HP:0002359)2.24616795
98Attenuation of retinal blood vessels (HP:0007843)2.24303888
99Ulnar deviation of the wrist (HP:0003049)2.24101717
100Increased number of teeth (HP:0011069)2.23441432
101Abnormality of dentin (HP:0010299)2.23246190
102Gastrointestinal stroma tumor (HP:0100723)2.19536468
103Vacuolated lymphocytes (HP:0001922)2.19212780
104Abnormality of the costochondral junction (HP:0000919)2.18999262
105Biconcave vertebral bodies (HP:0004586)2.18699274
106Spinal rigidity (HP:0003306)2.18642281
107Abnormal albumin level (HP:0012116)2.17222572
108Hypoalbuminemia (HP:0003073)2.17222572
109Joint hemorrhage (HP:0005261)2.16758431
110Abnormality of macrophages (HP:0004311)2.16309818
111Abnormality of T cells (HP:0002843)2.16012458
112Slender build (HP:0001533)2.15942590
113Slender long bone (HP:0003100)2.14664787
114Hyperacusis (HP:0010780)2.14439123
115Vasculitis (HP:0002633)2.14420211
116Gingivitis (HP:0000230)2.13548241
117Anteriorly placed anus (HP:0001545)2.13374336
118Short nail (HP:0001799)2.12443141
119Periodontitis (HP:0000704)2.11896211
120Atrophic scars (HP:0001075)2.11401931
121Shallow orbits (HP:0000586)2.10777572
122Mildly elevated creatine phosphokinase (HP:0008180)2.08721332
123Thin ribs (HP:0000883)2.07469636
124Osteomyelitis (HP:0002754)2.07362953
125Aplasia/Hypoplasia of the patella (HP:0006498)2.06443248
126Ovoid vertebral bodies (HP:0003300)2.06442921
127Macroorchidism (HP:0000053)2.06079659
128Restrictive lung disease (HP:0002091)2.05909649
129Chest pain (HP:0100749)2.05625604
130Increased circulating renin level (HP:0000848)2.05497513
131Abnormal trabecular bone morphology (HP:0100671)2.05162784
132Spondylolisthesis (HP:0003302)2.05086743
133Myocardial infarction (HP:0001658)2.05058441
134Systemic lupus erythematosus (HP:0002725)2.04295209
135Zonular cataract (HP:0010920)2.03684699
136Fragile skin (HP:0001030)2.03479306
137Thoracic kyphosis (HP:0002942)2.02686696
138Congenital hip dislocation (HP:0001374)2.01702452
139Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.01368469
140Obstructive lung disease (HP:0006536)2.00440932
141Chronic obstructive pulmonary disease (HP:0006510)2.00440932
142Increased IgE level (HP:0003212)1.99999694
143Increased neuronal autofluorescent lipopigment (HP:0002074)1.99204762
144Chorioretinal atrophy (HP:0000533)1.99174070
145Morphological abnormality of the middle ear (HP:0008609)1.99058748
146Myotonia (HP:0002486)1.97571928
147Choanal stenosis (HP:0000452)1.97171153
148Thyroiditis (HP:0100646)1.96448193
149Thrombocytosis (HP:0001894)1.95527732
150Arterial thrombosis (HP:0004420)1.95306762
151Generalized amyotrophy (HP:0003700)1.95023403
152Lymphopenia (HP:0001888)1.94553241
153Leukocytosis (HP:0001974)1.94309658
154Epistaxis (HP:0000421)1.94300619
155Patellar aplasia (HP:0006443)1.93939229
156Disproportionate tall stature (HP:0001519)1.93493573
157Short chin (HP:0000331)1.93317160
158Mitral valve prolapse (HP:0001634)1.93071849
159Atrioventricular block (HP:0001678)1.92924349
160Blue sclerae (HP:0000592)1.91216307
161Abnormality of the thoracic spine (HP:0100711)1.91124972
162Aneurysm (HP:0002617)1.90113405
163Myopathic facies (HP:0002058)1.90102598
164Abnormal platelet volume (HP:0011876)1.90064954
165Eosinophilia (HP:0001880)1.90057558
166Abnormality of cells of the lymphoid lineage (HP:0012140)1.89956334
167Nonimmune hydrops fetalis (HP:0001790)1.89875027
168Cardiovascular calcification (HP:0011915)1.88938051
169Cervical subluxation (HP:0003308)1.87267169
170Loss of speech (HP:0002371)1.86341508
171Short humerus (HP:0005792)1.85611017
172Bowel diverticulosis (HP:0005222)1.85521069
173Femoral bowing (HP:0002980)1.85037595
174Bicuspid aortic valve (HP:0001647)1.84450914
175Osteolytic defects of the phalanges of the hand (HP:0009771)1.82771180
176Osteolytic defects of the hand bones (HP:0009699)1.82771180
177Hypoventilation (HP:0002791)1.82747148
178Hand muscle atrophy (HP:0009130)1.82625684
179Ulnar bowing (HP:0003031)1.82199063
180Petechiae (HP:0000967)1.82198218
181Upper limb amyotrophy (HP:0009129)1.81497310
182Distal upper limb amyotrophy (HP:0007149)1.81497310
183Persistence of primary teeth (HP:0006335)1.80885028
184Severe short stature (HP:0003510)1.79481201
185Striae distensae (HP:0001065)1.77942303
186Mitral stenosis (HP:0001718)1.77570129
187Dilatation of the ascending aorta (HP:0005111)1.76865972
188IgA deficiency (HP:0002720)1.76743906

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAPK154.83111623
2MAP4K14.25264544
3MYLK3.75289561
4TRIB33.73529574
5PKN23.15678777
6EEF2K2.87037919
7NTRK12.86505549
8MAP3K102.82724118
9ERN12.81561008
10WNK42.72610284
11EPHA22.67631920
12TTN2.30786535
13EPHB22.26287758
14TYK22.19241913
15TGFBR22.03502883
16STK101.96337054
17JAK31.93951322
18ZAP701.88282218
19MST1R1.85538816
20TESK21.83514924
21SIK21.83099606
22MET1.80490585
23EPHB11.77240660
24GRK61.75609793
25PTK61.74442966
26JAK11.70471689
27TBK11.70017847
28LRRK21.64940969
29CAMK1D1.63345028
30FGFR41.58741802
31MUSK1.58657402
32ADRBK11.53564122
33RIPK11.51224370
34CSF1R1.49355426
35ITK1.46923976
36CDK121.46038109
37CAMK1G1.45270795
38KIT1.44330967
39HCK1.40086783
40BTK1.37669744
41MAP2K61.36261193
42PAK21.36129011
43BLK1.34652808
44SMG11.34471014
45RIPK41.33075793
46FGFR31.32921338
47TXK1.31746310
48CSK1.31697499
49SYK1.31377331
50MAP3K141.27760747
51FES1.22454620
52MAP3K131.22060777
53IRAK41.21133683
54DMPK1.19278233
55IKBKE1.18915521
56STK161.14609586
57LIMK11.13781420
58TESK11.13586606
59PRKD31.13013628
60SIK11.11923268
61PRKCH1.11693508
62MAP2K31.10962094
63TAOK31.09199057
64ILK1.07783153
65ABL21.07607063
66STK381.05365215
67LCK1.04392156
68DDR21.00055433
69GRK70.96292728
70MAP3K70.94729957
71JAK20.94197446
72MARK30.91990745
73PIM20.90161079
74PDGFRB0.85170423
75WNK10.84542334
76PAK10.84497489
77DYRK1B0.83725386
78PDGFRA0.82685264
79DAPK30.82207900
80IKBKB0.81871622
81NME20.81362094
82ROCK10.79832789
83PIK3CG0.77150099
84HIPK20.76737222
85BMX0.76629317
86TLK10.76086209
87CLK10.76021025
88TAOK20.74647995
89MELK0.73337075
90TRPM70.72731466
91IRAK30.72717209
92PDK10.72710245
93TEC0.72240958
94FLT30.71882674
95RPS6KA40.71596341
96IRAK20.71398128
97CDK80.71258992
98PRKG20.71174297
99RET0.71086974
100AURKA0.70941085
101PAK40.70582175
102CHUK0.69964680
103CDC42BPA0.69470791
104ERBB40.69024574
105ALK0.68500147
106LATS20.68108858
107PAK60.67718488
108GRK50.67575122
109PIM10.67149169
110ADRBK20.66309033
111CDK150.66046891
112MAP3K30.65472351
113KDR0.63972362
114SGK30.62972707
115TAOK10.61970279
116MTOR0.61675371
117BCKDK0.61544230
118CDK11A0.61095024
119PTK2B0.60524990
120PDK20.60317869
121CDK180.59601822
122PRKD20.58758404
123LYN0.58378371
124CDK60.58083656
125MAP2K20.56089077
126MAP2K10.55522202
127RPS6KA20.55308568
128PRKD10.53227884
129PDPK10.53222872
130LMTK20.51447874
131AKT20.51265978
132MAPK120.49783231
133ICK0.49341015
134CDK40.48613970
135MARK20.48409608
136RPS6KA60.48384676
137MAP3K110.48190779
138PRKCQ0.48186862
139NEK90.48130574
140NEK20.47826542
141EPHA30.46689845
142TNK20.45059993
143EGFR0.44355503
144RPS6KC10.43998349
145RPS6KL10.43998349
146CDK140.43561205
147STK40.43087282
148SCYL20.42642515
149CDK70.42422612
150CDK90.42245554
151BUB10.40971300
152MAP3K80.40461864
153FYN0.39163796
154NLK0.38124420
155PLK10.36744985
156PTK20.36565058
157MAPK110.36522448
158FGR0.36520954
159ROCK20.36050950
160TIE10.35674189
161MAPKAPK30.34409249
162MOS0.34331101
163CAMKK10.32604399

Predicted pathways (KEGG)

RankGene SetZ-score
1Sulfur relay system_Homo sapiens_hsa041224.79584806
2Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001303.47967261
3Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.14983283
4Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005342.72692134
5B cell receptor signaling pathway_Homo sapiens_hsa046622.65812253
6Sulfur metabolism_Homo sapiens_hsa009202.65662695
7Primary immunodeficiency_Homo sapiens_hsa053402.55006361
8Osteoclast differentiation_Homo sapiens_hsa043802.38660733
9Fructose and mannose metabolism_Homo sapiens_hsa000512.27196804
10Other types of O-glycan biosynthesis_Homo sapiens_hsa005142.27000964
11Leishmaniasis_Homo sapiens_hsa051402.23177077
12Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.96151667
13Chronic myeloid leukemia_Homo sapiens_hsa052201.82964950
14T cell receptor signaling pathway_Homo sapiens_hsa046601.80524644
15NF-kappa B signaling pathway_Homo sapiens_hsa040641.79830308
16Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.74442001
17Sphingolipid metabolism_Homo sapiens_hsa006001.72900733
18Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.68833735
19Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.66527132
20Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.66424341
21Toxoplasmosis_Homo sapiens_hsa051451.64389273
22Glycosaminoglycan degradation_Homo sapiens_hsa005311.63739340
23Acute myeloid leukemia_Homo sapiens_hsa052211.63053476
242-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.62508843
25Measles_Homo sapiens_hsa051621.61801424
26Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.58519109
27Leukocyte transendothelial migration_Homo sapiens_hsa046701.57068701
28Other glycan degradation_Homo sapiens_hsa005111.56525005
29Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.54134634
30Platelet activation_Homo sapiens_hsa046111.50096690
31AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.49233317
32Toll-like receptor signaling pathway_Homo sapiens_hsa046201.48963845
33Viral myocarditis_Homo sapiens_hsa054161.48693629
34Staphylococcus aureus infection_Homo sapiens_hsa051501.48405351
35Antigen processing and presentation_Homo sapiens_hsa046121.47064318
36Bladder cancer_Homo sapiens_hsa052191.46153158
37Intestinal immune network for IgA production_Homo sapiens_hsa046721.45797918
38Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.45360909
39N-Glycan biosynthesis_Homo sapiens_hsa005101.44380082
40Hematopoietic cell lineage_Homo sapiens_hsa046401.42135939
41Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.40049764
42Chemokine signaling pathway_Homo sapiens_hsa040621.39919356
43Glutathione metabolism_Homo sapiens_hsa004801.37361743
44Pancreatic cancer_Homo sapiens_hsa052121.34966244
45Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.34391604
46Tuberculosis_Homo sapiens_hsa051521.33707367
47Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.32705372
48Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.32344611
49Neurotrophin signaling pathway_Homo sapiens_hsa047221.30798784
50Jak-STAT signaling pathway_Homo sapiens_hsa046301.28039910
51Hedgehog signaling pathway_Homo sapiens_hsa043401.27914211
52Lysosome_Homo sapiens_hsa041421.25014007
53Apoptosis_Homo sapiens_hsa042101.23554037
54Shigellosis_Homo sapiens_hsa051311.22412695
55Insulin resistance_Homo sapiens_hsa049311.21084979
56Non-small cell lung cancer_Homo sapiens_hsa052231.19471966
57Hepatitis B_Homo sapiens_hsa051611.18341018
58Hippo signaling pathway_Homo sapiens_hsa043901.18158937
59Pertussis_Homo sapiens_hsa051331.18107615
60VEGF signaling pathway_Homo sapiens_hsa043701.17940577
61Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.17677149
62TNF signaling pathway_Homo sapiens_hsa046681.16721894
63Influenza A_Homo sapiens_hsa051641.15330908
64Lysine degradation_Homo sapiens_hsa003101.12398533
65NOD-like receptor signaling pathway_Homo sapiens_hsa046211.04904622
66Carbohydrate digestion and absorption_Homo sapiens_hsa049731.04543025
67Type II diabetes mellitus_Homo sapiens_hsa049301.03059828
68Small cell lung cancer_Homo sapiens_hsa052221.02557180
69Malaria_Homo sapiens_hsa051441.02124215
70mTOR signaling pathway_Homo sapiens_hsa041501.02066935
71Basal cell carcinoma_Homo sapiens_hsa052170.99816843
72RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.99460007
73Prolactin signaling pathway_Homo sapiens_hsa049170.99257551
74Focal adhesion_Homo sapiens_hsa045100.99027872
75Melanogenesis_Homo sapiens_hsa049160.98305878
76Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.95072655
77Proteoglycans in cancer_Homo sapiens_hsa052050.93679308
78Salmonella infection_Homo sapiens_hsa051320.93263468
79Notch signaling pathway_Homo sapiens_hsa043300.91874362
80Amoebiasis_Homo sapiens_hsa051460.91692311
81Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.90154931
82Adipocytokine signaling pathway_Homo sapiens_hsa049200.88214460
83Colorectal cancer_Homo sapiens_hsa052100.87287659
84Herpes simplex infection_Homo sapiens_hsa051680.86036458
85Regulation of actin cytoskeleton_Homo sapiens_hsa048100.84979422
86Phosphatidylinositol signaling system_Homo sapiens_hsa040700.84073337
87Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.83992965
88Protein digestion and absorption_Homo sapiens_hsa049740.81660272
89Hepatitis C_Homo sapiens_hsa051600.81503763
90Renal cell carcinoma_Homo sapiens_hsa052110.81281553
91Base excision repair_Homo sapiens_hsa034100.80990082
92Glioma_Homo sapiens_hsa052140.80086014
93HTLV-I infection_Homo sapiens_hsa051660.79545091
94Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.79456142
95Galactose metabolism_Homo sapiens_hsa000520.79350302
96Vitamin digestion and absorption_Homo sapiens_hsa049770.78954636
97Endocytosis_Homo sapiens_hsa041440.78263536
98Endometrial cancer_Homo sapiens_hsa052130.78194538
99Thyroid hormone signaling pathway_Homo sapiens_hsa049190.77912402
100Legionellosis_Homo sapiens_hsa051340.76556207
101HIF-1 signaling pathway_Homo sapiens_hsa040660.74839883
102Melanoma_Homo sapiens_hsa052180.74620103
103Phospholipase D signaling pathway_Homo sapiens_hsa040720.73103683
104Transcriptional misregulation in cancer_Homo sapiens_hsa052020.72986888
105Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.72906585
106Insulin signaling pathway_Homo sapiens_hsa049100.71767873
107FoxO signaling pathway_Homo sapiens_hsa040680.71272369
108Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.71100466
109Renin-angiotensin system_Homo sapiens_hsa046140.70922400
110TGF-beta signaling pathway_Homo sapiens_hsa043500.68837475
111Pyrimidine metabolism_Homo sapiens_hsa002400.66623925
112Dorso-ventral axis formation_Homo sapiens_hsa043200.65916293
113MicroRNAs in cancer_Homo sapiens_hsa052060.65228318
114PI3K-Akt signaling pathway_Homo sapiens_hsa041510.64622486
115Inositol phosphate metabolism_Homo sapiens_hsa005620.63410800
116Adherens junction_Homo sapiens_hsa045200.62781298
117Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.62581544
118Gap junction_Homo sapiens_hsa045400.62220870
119Viral carcinogenesis_Homo sapiens_hsa052030.61914245
120Estrogen signaling pathway_Homo sapiens_hsa049150.61692536
121Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.59685586
122Biosynthesis of amino acids_Homo sapiens_hsa012300.59542858
123Central carbon metabolism in cancer_Homo sapiens_hsa052300.59537521
124Rap1 signaling pathway_Homo sapiens_hsa040150.59125329
125Dilated cardiomyopathy_Homo sapiens_hsa054140.58101966
126Sphingolipid signaling pathway_Homo sapiens_hsa040710.57681197
127Longevity regulating pathway - mammal_Homo sapiens_hsa042110.57527958
128Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.57322172
129Cocaine addiction_Homo sapiens_hsa050300.56597032
130Cyanoamino acid metabolism_Homo sapiens_hsa004600.56538992
131Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.55630305
132Prostate cancer_Homo sapiens_hsa052150.54661782
133MAPK signaling pathway_Homo sapiens_hsa040100.53980624
134Pyruvate metabolism_Homo sapiens_hsa006200.52788930
135Choline metabolism in cancer_Homo sapiens_hsa052310.48528347
136Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.48514431
137Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.48428356
138Aldosterone synthesis and secretion_Homo sapiens_hsa049250.48326157
139Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.47948233
140Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.46575528
141Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.46485449
142ECM-receptor interaction_Homo sapiens_hsa045120.46192038
143Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.43256208
144Fanconi anemia pathway_Homo sapiens_hsa034600.41105164
145Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.37614723
146Arginine biosynthesis_Homo sapiens_hsa002200.36476333
147Ovarian steroidogenesis_Homo sapiens_hsa049130.36001981
148Tyrosine metabolism_Homo sapiens_hsa003500.34885309
149Pentose phosphate pathway_Homo sapiens_hsa000300.33434026
150* Pathways in cancer_Homo sapiens_hsa052000.32154010
151p53 signaling pathway_Homo sapiens_hsa041150.31600999
152Circadian rhythm_Homo sapiens_hsa047100.29797844
153Metabolic pathways_Homo sapiens_hsa011000.29756063
154Axon guidance_Homo sapiens_hsa043600.29478479
155Tight junction_Homo sapiens_hsa045300.27111868
156Vibrio cholerae infection_Homo sapiens_hsa051100.25788227
157Phenylalanine metabolism_Homo sapiens_hsa003600.25625785
158AMPK signaling pathway_Homo sapiens_hsa041520.25272229
159Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.22859397
160* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.22126515
161Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.20376946
162Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.20144723
163Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.19558594
164* Calcium signaling pathway_Homo sapiens_hsa040200.18927911

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