ESR1

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 an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. The protein localizes to the nucleus where it may form a homodimer or a heterodimer with estrogen receptor 2. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Estrogen receptors are also involved in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative promoter usage and alternative splicing result in dozens of transcript variants, but the full-length nature of many of these variants has not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1skeletal muscle tissue regeneration (GO:0043403)8.45376958
2Peyers patch development (GO:0048541)8.41515779
3mucosal-associated lymphoid tissue development (GO:0048537)8.41515779
4intestinal epithelial cell development (GO:0060576)7.98665010
5ear development (GO:0043583)6.85438746
6positive regulation of granulocyte differentiation (GO:0030854)6.77711538
7natural killer cell differentiation (GO:0001779)6.28715771
8epithelial cell maturation (GO:0002070)5.81672502
9negative regulation of Ras GTPase activity (GO:0034261)5.74748840
10positive regulation of keratinocyte differentiation (GO:0045618)5.55870358
11ribosomal small subunit assembly (GO:0000028)5.48876347
12L-serine metabolic process (GO:0006563)5.46310232
13regulation of cell proliferation involved in kidney development (GO:1901722)5.35040987
14regulation of histone H3-K27 methylation (GO:0061085)5.09036551
15tachykinin receptor signaling pathway (GO:0007217)5.04012093
16dorsal/ventral neural tube patterning (GO:0021904)5.01735692
17COPI coating of Golgi vesicle (GO:0048205)5.01258365
18Golgi transport vesicle coating (GO:0048200)5.01258365
19lung lobe morphogenesis (GO:0060463)4.92324482
20regulation of establishment of cell polarity (GO:2000114)4.91089716
21serine family amino acid biosynthetic process (GO:0009070)4.88599093
22regulation of granulocyte differentiation (GO:0030852)4.82729018
23regulation of establishment or maintenance of cell polarity (GO:0032878)4.73567063
24insulin-like growth factor receptor signaling pathway (GO:0048009)4.66911388
25positive regulation of actin cytoskeleton reorganization (GO:2000251)4.63818742
26* uterus development (GO:0060065)4.60484838
27valine metabolic process (GO:0006573)4.60159049
28* vagina development (GO:0060068)4.57668592
29folic acid-containing compound biosynthetic process (GO:0009396)4.54477320
30spinal cord association neuron differentiation (GO:0021527)4.54443970
31embryonic camera-type eye morphogenesis (GO:0048596)4.44471967
32endocrine hormone secretion (GO:0060986)4.39836540
33negative regulation of cell size (GO:0045792)4.38608322
34cardiac right ventricle morphogenesis (GO:0003215)4.38362414
35oxaloacetate metabolic process (GO:0006107)4.37930023
36regulation of mammary gland epithelial cell proliferation (GO:0033599)4.35503412
37regulation of centriole replication (GO:0046599)4.32726244
38norepinephrine metabolic process (GO:0042415)4.31312643
39maternal placenta development (GO:0001893)4.29223266
40alpha-linolenic acid metabolic process (GO:0036109)4.28845173
41L-phenylalanine catabolic process (GO:0006559)4.21221115
42erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.21221115
43positive regulation of B cell differentiation (GO:0045579)4.17113239
44glycine metabolic process (GO:0006544)4.15148430
45tetrahydrofolate metabolic process (GO:0046653)4.14939978
46mesonephros development (GO:0001823)4.13957646
47striated muscle atrophy (GO:0014891)4.11012216
48lymph node development (GO:0048535)4.03630407
49ribosomal small subunit biogenesis (GO:0042274)4.00695644
50negative regulation of organelle assembly (GO:1902116)3.97318205
51exocrine pancreas development (GO:0031017)3.91714399
52embryonic eye morphogenesis (GO:0048048)3.90133942
53cellular zinc ion homeostasis (GO:0006882)3.89585742
54regulation of cholesterol homeostasis (GO:2000188)3.87782070
55positive regulation of epidermal cell differentiation (GO:0045606)3.87632072
56positive regulation of Cdc42 GTPase activity (GO:0043089)3.86770447
57response to nitrosative stress (GO:0051409)3.86614277
58hepatocyte apoptotic process (GO:0097284)3.86572891
59epithelial tube branching involved in lung morphogenesis (GO:0060441)3.86572859
60mammary gland epithelial cell differentiation (GO:0060644)3.86115256
61L-phenylalanine metabolic process (GO:0006558)3.85826299
62erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.85826299
63cellular response to interferon-alpha (GO:0035457)3.85570631
64interferon-gamma secretion (GO:0072643)3.82862985
65TOR signaling (GO:0031929)3.81751539
66negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)3.81702990
67skeletal muscle adaptation (GO:0043501)3.80916431
68positive regulation of histone methylation (GO:0031062)3.79976024
69* branching involved in mammary gland duct morphogenesis (GO:0060444)3.78862414
70kynurenine metabolic process (GO:0070189)3.77312308
71one-carbon metabolic process (GO:0006730)3.76250540
72regulation of cholesterol biosynthetic process (GO:0045540)3.74700669
73aromatic amino acid family catabolic process (GO:0009074)3.73654460
74regulation of nephron tubule epithelial cell differentiation (GO:0072182)3.67289645
75regulation of ruffle assembly (GO:1900027)3.65389841
76positive regulation of histone deacetylation (GO:0031065)3.64541648
772-oxoglutarate metabolic process (GO:0006103)3.62845821
78regulation of histone H3-K9 methylation (GO:0051570)3.60586423
79regulation of Rac protein signal transduction (GO:0035020)3.58131870
80* female genitalia development (GO:0030540)3.54155732
81complement activation, alternative pathway (GO:0006957)3.53101315
82negative regulation of histone methylation (GO:0031061)3.52538675
83regulation of protein activation cascade (GO:2000257)3.50160374
84lung secretory cell differentiation (GO:0061140)3.49758033
85negative regulation of phagocytosis (GO:0050765)3.47659258
86glandular epithelial cell differentiation (GO:0002067)3.47360167
87retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.44790552
88serine family amino acid metabolic process (GO:0009069)3.44273909
89triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.43695030
90dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.42348290
91urea cycle (GO:0000050)3.41195920
92urea metabolic process (GO:0019627)3.41195920
93muscle atrophy (GO:0014889)3.40419513
94negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)3.38972930
95cell differentiation involved in embryonic placenta development (GO:0060706)3.36738331
96high-density lipoprotein particle remodeling (GO:0034375)3.36310473
97negative regulation of fatty acid transport (GO:2000192)3.35843089
98negative regulation of GTP catabolic process (GO:0033125)3.35427069
99negative regulation of GTPase activity (GO:0034260)3.35427069
100negative regulation of erythrocyte differentiation (GO:0045647)3.35033935
101outflow tract septum morphogenesis (GO:0003148)3.34910521
102negative regulation of kidney development (GO:0090185)3.34822398
103sulfur amino acid catabolic process (GO:0000098)3.33535927
104regulation of complement activation (GO:0030449)3.33338830
105folic acid-containing compound metabolic process (GO:0006760)3.32200761
106bile acid biosynthetic process (GO:0006699)3.31922586
107regulation of histone methylation (GO:0031060)3.31864112
108regulation of water loss via skin (GO:0033561)3.31122801
109indole-containing compound catabolic process (GO:0042436)3.29678252
110indolalkylamine catabolic process (GO:0046218)3.29678252
111tryptophan catabolic process (GO:0006569)3.29678252
112response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.29444029
113antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.28830131
114antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.28830131
115viral transcription (GO:0019083)3.28284103
116cysteine metabolic process (GO:0006534)3.28186944
117positive regulation of hormone metabolic process (GO:0032352)3.24555416
118pentose-phosphate shunt (GO:0006098)3.23178382
119glyoxylate metabolic process (GO:0046487)3.22606290
120positive regulation of triglyceride biosynthetic process (GO:0010867)3.21792045
121endothelial cell chemotaxis (GO:0035767)3.19628853
122fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.19556620
123negative regulation of fibrinolysis (GO:0051918)3.19378349
124mature B cell differentiation involved in immune response (GO:0002313)3.17964989
125positive regulation of cellular amine metabolic process (GO:0033240)3.17000170
126amyloid precursor protein catabolic process (GO:0042987)3.16416734
127columnar/cuboidal epithelial cell development (GO:0002066)3.16313203
128negative regulation of sterol transport (GO:0032372)3.15950271
129negative regulation of cholesterol transport (GO:0032375)3.15950271
130regulation of epithelial cell differentiation involved in kidney development (GO:2000696)3.15559194
131negative regulation of cell fate commitment (GO:0010454)3.15167666
132translational termination (GO:0006415)3.13249558
133regulation of keratinocyte differentiation (GO:0045616)3.11283075
134fatty acid homeostasis (GO:0055089)3.10616045
135tricarboxylic acid metabolic process (GO:0072350)3.10135173
136regulation of interleukin-13 production (GO:0032656)3.09541963
137regulation of triglyceride catabolic process (GO:0010896)3.08354427
138lysine metabolic process (GO:0006553)3.05260679
139lysine catabolic process (GO:0006554)3.05260679
140regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)3.04784065
141oxidative phosphorylation (GO:0006119)3.04771717
142definitive hemopoiesis (GO:0060216)3.04103341
143plasma lipoprotein particle clearance (GO:0034381)3.03524660
144NADPH regeneration (GO:0006740)3.03067655
145regulation of cholesterol metabolic process (GO:0090181)3.01553732
146positive regulation of triglyceride metabolic process (GO:0090208)3.01017979
147face development (GO:0060324)3.00991059
148trophectodermal cell differentiation (GO:0001829)3.00098751
149endocardial cushion development (GO:0003197)2.99369383
150nitrogen cycle metabolic process (GO:0071941)2.99121624
151proline biosynthetic process (GO:0006561)2.98383565
152regulation of fatty acid beta-oxidation (GO:0031998)2.98006638
153tryptophan metabolic process (GO:0006568)2.97892202
154COPII vesicle coating (GO:0048208)2.96030768
155positive regulation of gamma-delta T cell activation (GO:0046645)2.95949077
156regulation of humoral immune response (GO:0002920)2.95442571
157embryonic skeletal joint morphogenesis (GO:0060272)2.95291141
158epithelial cell differentiation involved in prostate gland development (GO:0060742)2.95090260
159positive regulation of smooth muscle cell migration (GO:0014911)2.93432807
160regulation of fibrinolysis (GO:0051917)2.92469223
161positive regulation of blood vessel endothelial cell migration (GO:0043536)2.92120567
162low-density lipoprotein particle clearance (GO:0034383)2.91625546
163tissue regeneration (GO:0042246)2.91584390
164peptidyl-glutamic acid carboxylation (GO:0017187)2.88918887
165protein carboxylation (GO:0018214)2.88918887
166cellular response to antibiotic (GO:0071236)2.88599201
167positive regulation of digestive system process (GO:0060456)2.88327142
168cellular glucuronidation (GO:0052695)2.87189235
169regulation of triglyceride biosynthetic process (GO:0010866)2.85340063
170xenobiotic catabolic process (GO:0042178)2.83245895
171urate metabolic process (GO:0046415)2.83151019
172zinc ion transmembrane transport (GO:0071577)2.82228603
173myeloid cell homeostasis (GO:0002262)2.81821867
174cardiac ventricle morphogenesis (GO:0003208)2.81803106
175adherens junction assembly (GO:0034333)2.81735717
176nitric oxide biosynthetic process (GO:0006809)2.81674320
177positive regulation of transcription regulatory region DNA binding (GO:2000679)2.80599744
178negative regulation of embryonic development (GO:0045992)2.80092194
179phospholipid efflux (GO:0033700)2.80089691
180positive regulation of humoral immune response (GO:0002922)2.79663521
181benzene-containing compound metabolic process (GO:0042537)2.79560052
182positive regulation of fatty acid beta-oxidation (GO:0032000)2.79444398
183macromolecular complex remodeling (GO:0034367)2.79117143
184plasma lipoprotein particle remodeling (GO:0034369)2.79117143
185protein-lipid complex remodeling (GO:0034368)2.79117143
186eyelid development in camera-type eye (GO:0061029)2.78588210
187reverse cholesterol transport (GO:0043691)2.78315379
188response to water (GO:0009415)2.78167712
189response to food (GO:0032094)2.76701861
190lung epithelial cell differentiation (GO:0060487)2.74253648
191ER overload response (GO:0006983)2.73606014
192endocardial cushion morphogenesis (GO:0003203)2.73267926
193ectodermal placode formation (GO:0060788)2.72176538
194lung cell differentiation (GO:0060479)2.69834999
195cellular senescence (GO:0090398)2.69599619
196negative regulation of focal adhesion assembly (GO:0051895)2.64211255
197negative regulation of cell junction assembly (GO:1901889)2.64211255
198negative regulation of adherens junction organization (GO:1903392)2.64211255
199positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)2.60623492

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* ESR1_20079471_ChIP-ChIP_T-47D_Human7.35027160
2EZH2_22144423_ChIP-Seq_EOC_Human6.67700686
3E2F7_22180533_ChIP-Seq_HELA_Human6.48334364
4ESR1_21235772_ChIP-Seq_MCF-7_Human6.13293438
5ESR1_17901129_ChIP-ChIP_LIVER_Mouse5.86240621
6ESR2_21235772_ChIP-Seq_MCF-7_Human5.81620120
7ESR1_15608294_ChIP-ChIP_MCF-7_Human5.34431017
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.06043040
9* RXR_22158963_ChIP-Seq_LIVER_Mouse3.74361508
10MYC_22102868_ChIP-Seq_BL_Human3.71590562
11PPARA_22158963_ChIP-Seq_LIVER_Mouse3.56199757
12* ZNF217_24962896_ChIP-Seq_MCF-7_Human3.45713710
13EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.43390229
14ZNF652_21678463_ChIP-ChIP_ZR75-1_Human3.34511682
15* TFAP2C_20629094_ChIP-Seq_MCF-7_Human3.28832470
16* RUNX1_27514584_Chip-Seq_MCF-7_Human3.13539392
17SCL_19346495_ChIP-Seq_HPC-7_Human3.05136557
18TP63_17297297_ChIP-ChIP_HaCaT_Human3.03552086
19HIF1A_21447827_ChIP-Seq_MCF-7_Human2.96745943
20* AHR_22903824_ChIP-Seq_MCF-7_Human2.90938268
21VDR_21846776_ChIP-Seq_THP-1_Human2.76115543
22* LXR_22158963_ChIP-Seq_LIVER_Mouse2.65020783
23CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.47021936
24TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.45955114
25* EGR1_23403033_ChIP-Seq_LIVER_Mouse2.44123517
26EGR1_19374776_ChIP-ChIP_THP-1_Human2.37048508
27* GATA3_24758297_ChIP-Seq_MCF-7_Human2.34208967
28STAT6_21828071_ChIP-Seq_BEAS2B_Human2.29359895
29PKCTHETA_26484144_Chip-Seq_BREAST_Human2.21120884
30* ARNT_22903824_ChIP-Seq_MCF-7_Human2.14875039
31ZNF263_19887448_ChIP-Seq_K562_Human2.13022086
32NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.08922208
33ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.08150575
34FOXM1_23109430_ChIP-Seq_U2OS_Human2.05716802
35NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.96781892
36IRF8_22096565_ChIP-ChIP_GC-B_Human1.93506549
37TDRD3_21172665_ChIP-Seq_MCF-7_Human1.91943135
38MYC_18555785_ChIP-Seq_MESCs_Mouse1.89156638
39MYB_21317192_ChIP-Seq_ERMYB_Mouse1.87021979
40E2F4_17652178_ChIP-ChIP_JURKAT_Human1.86362052
41VDR_24763502_ChIP-Seq_THP-1_Human1.85264179
42MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.78336379
43TCF7_22412390_ChIP-Seq_EML_Mouse1.74477294
44* ER_23166858_ChIP-Seq_MCF-7_Human1.72946017
45CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.69762191
46* FOXM1_26456572_ChIP-Seq_MCF-7_Human1.67730343
47TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.66357210
48FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.62913595
49RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.61711161
50TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.57946274
51SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.57307947
52FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.54607937
53ELK3_25401928_ChIP-Seq_HUVEC_Human1.52066017
54SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.51496211
55TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.50284079
56ELF5_23300383_ChIP-Seq_T47D_Human1.48538261
57TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.47862511
58UTX_26944678_Chip-Seq_JUKART_Human1.45237271
59* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.45114226
60DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.44806111
61TRIM28_21343339_ChIP-Seq_HEK293_Human1.43884029
62RBPJ_22232070_ChIP-Seq_NCS_Mouse1.41326096
63SOX2_27498859_Chip-Seq_STOMACH_Mouse1.41141736
64SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.40339205
65* NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.37675628
66CLOCK_20551151_ChIP-Seq_293T_Human1.37227591
67MYC_18358816_ChIP-ChIP_MESCs_Mouse1.35980354
68ZFP281_18757296_ChIP-ChIP_E14_Mouse1.35900053
69MYC_19079543_ChIP-ChIP_MESCs_Mouse1.34654880
70KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.33519834
71KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.31237722
72KDM2B_26808549_Chip-Seq_SUP-B15_Human1.30302090
73LXR_22292898_ChIP-Seq_THP-1_Human1.29990370
74SRY_22984422_ChIP-ChIP_TESTIS_Rat1.29959067
75WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.29347139
76AR_21909140_ChIP-Seq_LNCAP_Human1.29292655
77GATA1_19941827_ChIP-Seq_MEL_Mouse1.29037118
78XRN2_22483619_ChIP-Seq_HELA_Human1.28043934
79MYB_26560356_Chip-Seq_TH1_Human1.27927206
80MAF_26560356_Chip-Seq_TH1_Human1.27788810
81ELF1_17652178_ChIP-ChIP_JURKAT_Human1.27761670
82CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.27315098
83CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.24689225
84KDM2B_26808549_Chip-Seq_DND41_Human1.24031127
85BRD4_27068464_Chip-Seq_AML-cells_Mouse1.23891685
86KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.23646073
87KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.23646073
88KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.23646073
89E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.22880786
90FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.22682951
91ZFX_18555785_ChIP-Seq_MESCs_Mouse1.21879942
92GATA6_25053715_ChIP-Seq_YYC3_Human1.21554703
93TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.18609601
94HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.17829137
95* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.16650295
96SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.16640861
97STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.16265020
98E2F1_21310950_ChIP-Seq_MCF-7_Human1.15707891
99ATF3_27146783_Chip-Seq_COLON_Human1.15328234
100TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.14468998
101MAF_26560356_Chip-Seq_TH2_Human1.12845568
102RUNX1_22412390_ChIP-Seq_EML_Mouse1.12232020
103ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.11481854
104KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.10118705
105SPI1_23127762_ChIP-Seq_K562_Human1.08793487
106TP63_19390658_ChIP-ChIP_HaCaT_Human1.07261253
107CREB1_26743006_Chip-Seq_LNCaP_Human1.07126482
108CIITA_25753668_ChIP-Seq_RAJI_Human1.05580467
109RACK7_27058665_Chip-Seq_MCF-7_Human1.03957028
110GATA1_22025678_ChIP-Seq_K562_Human1.03432886
111ETS1_20019798_ChIP-Seq_JURKAT_Human1.02544019
112KLF5_25053715_ChIP-Seq_YYC3_Human1.01736447
113MYC_19030024_ChIP-ChIP_MESCs_Mouse1.01691571
114ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.00159691
115ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.99893630
116ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.99185095
117RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.98510292
118STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.98328038
119KLF4_18555785_ChIP-Seq_MESCs_Mouse0.98186847
120RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.98108028
121KDM2B_26808549_Chip-Seq_K562_Human0.96569300
122DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.95904595
123MYB_26560356_Chip-Seq_TH2_Human0.95694461
124THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.94685064
125IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.94190111
126CDX2_20551321_ChIP-Seq_CACO-2_Human0.94030108
127SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.93887643
128SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.93887643
129FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.93808181
130IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.93588357
131ERG_21242973_ChIP-ChIP_JURKAT_Human0.93284673
132VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.91742960
133ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.90917726
134EST1_17652178_ChIP-ChIP_JURKAT_Human0.90811058
135* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.90659060
136SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.90139960
137TET1_21451524_ChIP-Seq_MESCs_Mouse0.90023338
138FOXO3_23340844_ChIP-Seq_DLD1_Human0.89354204
139TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.88980392
140SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.88817733
141SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.88533061
142STAT3_1855785_ChIP-Seq_MESCs_Mouse0.88107315
143TP53_20018659_ChIP-ChIP_R1E_Mouse0.87791831
144UBF1/2_26484160_Chip-Seq_HMECs_Human0.87323913
145EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.85647686
146TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.84203308
147ZFP281_27345836_Chip-Seq_ESCs_Mouse0.83955749
148SPI1_23547873_ChIP-Seq_NB4_Human0.83715104
149SOX9_24532713_ChIP-Seq_HFSC_Mouse0.83575596
150DNAJC2_21179169_ChIP-ChIP_NT2_Human0.83422990
151NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.83344966
152P300_27058665_Chip-Seq_ZR-75-30cells_Human0.82729099
153GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.81821009
154* GATA2_22383799_ChIP-Seq_G1ME_Mouse0.81785405
155SA1_27219007_Chip-Seq_ERYTHROID_Human0.81659338
156KDM2B_26808549_Chip-Seq_JURKAT_Human0.81552178
157RARG_19884340_ChIP-ChIP_MEFs_Mouse0.81481620
158TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.81123503
159NCOR1_26117541_ChIP-Seq_K562_Human0.80908699
160CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.79425207
161KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.79193090
162KDM5A_27292631_Chip-Seq_BREAST_Human0.78066475
163HOXB4_20404135_ChIP-ChIP_EML_Mouse0.77889983
164P300_27268052_Chip-Seq_Bcells_Human0.76140364
165CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.74855032
166CTCF_21964334_Chip-Seq_Bcells_Human0.71608949
167RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.71510869
168CHD1_26751641_Chip-Seq_LNCaP_Human0.70227554

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002163_abnormal_gland_morphology7.99833735
2MP0005379_endocrine/exocrine_gland_phen5.18721159
3MP0002139_abnormal_hepatobiliary_system4.81534677
4MP0005451_abnormal_body_composition4.49795678
5MP0004264_abnormal_extraembryonic_tissu4.49092950
6MP0005360_urolithiasis4.01634236
7MP0004381_abnormal_hair_follicle3.35031587
8MP0005365_abnormal_bile_salt3.19422810
9MP0000383_abnormal_hair_follicle3.15923938
10MP0005085_abnormal_gallbladder_physiolo3.15555567
11MP0004782_abnormal_surfactant_physiolog3.10387062
12MP0002796_impaired_skin_barrier3.09153504
13MP0000427_abnormal_hair_cycle2.98912660
14MP0008875_abnormal_xenobiotic_pharmacok2.79297068
15* MP0000627_abnormal_mammary_gland2.77953348
16MP0002098_abnormal_vibrissa_morphology2.77139848
17MP0005076_abnormal_cell_differentiation2.72332460
18MP0010678_abnormal_skin_adnexa2.71684866
19MP0000750_abnormal_muscle_regeneration2.53726122
20MP0009840_abnormal_foam_cell2.53628116
21MP0004233_abnormal_muscle_weight2.40326568
22* MP0010329_abnormal_lipoprotein_level2.24972039
23MP0002396_abnormal_hematopoietic_system2.23472295
24MP0005083_abnormal_biliary_tract2.19771985
25MP0005408_hypopigmentation2.19535851
26MP0010234_abnormal_vibrissa_follicle2.19204520
27MP0000462_abnormal_digestive_system2.12387088
28MP0009384_cardiac_valve_regurgitation2.11068209
29MP0003941_abnormal_skin_development2.09853612
30MP0003191_abnormal_cellular_cholesterol2.08420113
31MP0000538_abnormal_urinary_bladder2.00344431
32* MP0003936_abnormal_reproductive_system1.99630588
33* MP0001881_abnormal_mammary_gland1.96551432
34MP0003942_abnormal_urinary_system1.95755749
35MP0002877_abnormal_melanocyte_morpholog1.91233991
36MP0000747_muscle_weakness1.81811202
37MP0003705_abnormal_hypodermis_morpholog1.73953463
38MP0002009_preneoplasia1.73265668
39MP0003252_abnormal_bile_duct1.72271801
40MP0005501_abnormal_skin_physiology1.72168811
41MP0003436_decreased_susceptibility_to1.70523836
42MP0009379_abnormal_foot_pigmentation1.68326507
43MP0000685_abnormal_immune_system1.62123708
44MP0003183_abnormal_peptide_metabolism1.61730973
45MP0002254_reproductive_system_inflammat1.61181834
46MP0001849_ear_inflammation1.60451065
47MP0000534_abnormal_ureter_morphology1.54818229
48* MP0001727_abnormal_embryo_implantation1.53825813
49MP0005464_abnormal_platelet_physiology1.51406205
50MP0002751_abnormal_autonomic_nervous1.49056346
51MP0000579_abnormal_nail_morphology1.47257460
52MP0000377_abnormal_hair_follicle1.45935420
53* MP0000609_abnormal_liver_physiology1.45357028
54MP0000767_abnormal_smooth_muscle1.43435354
55MP0005075_abnormal_melanosome_morpholog1.40890778
56MP0002909_abnormal_adrenal_gland1.36678267
57MP0008961_abnormal_basal_metabolism1.30341217
58MP0003300_gastrointestinal_ulcer1.30323251
59MP0005248_abnormal_Harderian_gland1.30041463
60* MP0003763_abnormal_thymus_physiology1.29668910
61MP0003806_abnormal_nucleotide_metabolis1.29535892
62* MP0002118_abnormal_lipid_homeostasis1.27565867
63* MP0001800_abnormal_humoral_immune1.25780180
64MP0009278_abnormal_bone_marrow1.25495624
65MP0005319_abnormal_enzyme/_coenzyme1.25431431
66MP0003186_abnormal_redox_activity1.25183835
67MP0004808_abnormal_hematopoietic_stem1.24510754
68MP0000604_amyloidosis1.24156965
69MP0000013_abnormal_adipose_tissue1.23921099
70* MP0000470_abnormal_stomach_morphology1.22846167
71MP0000467_abnormal_esophagus_morphology1.19757173
72MP0001545_abnormal_hematopoietic_system1.18945959
73MP0005397_hematopoietic_system_phenotyp1.18945959
74* MP0009672_abnormal_birth_weight1.17931019
75MP0002060_abnormal_skin_morphology1.17407300
76MP0001664_abnormal_digestion1.16173836
77MP0000003_abnormal_adipose_tissue1.15285099
78MP0005332_abnormal_amino_acid1.15117870
79MP0003724_increased_susceptibility_to1.13597450
80MP0000537_abnormal_urethra_morphology1.12407972
81MP0010352_gastrointestinal_tract_polyps1.10816072
82MP0003123_paternal_imprinting1.10048462
83MP0003453_abnormal_keratinocyte_physiol1.09918155
84MP0002089_abnormal_postnatal_growth/wei1.07416409
85MP0001340_abnormal_eyelid_morphology1.06874846
86MP0001346_abnormal_lacrimal_gland1.05377265
87MP0003943_abnormal_hepatobiliary_system1.04429911
88MP0002138_abnormal_hepatobiliary_system1.03762774
89* MP0000598_abnormal_liver_morphology1.03413584
90MP0001663_abnormal_digestive_system1.01719377
91* MP0002019_abnormal_tumor_incidence1.01694157
92MP0001873_stomach_inflammation1.00721720
93MP0004947_skin_inflammation0.99329146
94MP0004130_abnormal_muscle_cell0.98853745
95* MP0000689_abnormal_spleen_morphology0.98435561
96* MP0002722_abnormal_immune_system0.98185104
97MP0001216_abnormal_epidermal_layer0.98131746
98MP0002088_abnormal_embryonic_growth/wei0.98030712
99* MP0002896_abnormal_bone_mineralization0.97501721
100* MP0002398_abnormal_bone_marrow0.97006407
101MP0003566_abnormal_cell_adhesion0.96536762
102MP0001666_abnormal_nutrient_absorption0.95753991
103MP0002249_abnormal_larynx_morphology0.95750759
104MP0002277_abnormal_respiratory_mucosa0.94206191
105MP0010630_abnormal_cardiac_muscle0.92731869
106* MP0005647_abnormal_sex_gland0.92287216
107* MP0002970_abnormal_white_adipose0.91267471
108* MP0010771_integument_phenotype0.89492863
109MP0003303_peritoneal_inflammation0.88995832
110MP0010386_abnormal_urinary_bladder0.87789623
111MP0000751_myopathy0.87246015
112MP0003984_embryonic_growth_retardation0.86635730
113* MP0002160_abnormal_reproductive_system0.85738981
114MP0005409_darkened_coat_color0.85719983
115MP0000733_abnormal_muscle_development0.85339534
116MP0003693_abnormal_embryo_hatching0.84260103
117MP0002166_altered_tumor_susceptibility0.83939356
118MP0005380_embryogenesis_phenotype0.83927490
119MP0001672_abnormal_embryogenesis/_devel0.83927490
120* MP0008469_abnormal_protein_level0.83813637
121* MP0001533_abnormal_skeleton_physiology0.83346640
122MP0005375_adipose_tissue_phenotype0.83308008
123* MP0001919_abnormal_reproductive_system0.83245163
124MP0001835_abnormal_antigen_presentation0.82527256
125MP0005025_abnormal_response_to0.82047057
126MP0002933_joint_inflammation0.81531896
127MP0004957_abnormal_blastocyst_morpholog0.80864365
128MP0001243_abnormal_dermal_layer0.80826547
129* MP0005334_abnormal_fat_pad0.80776986
130MP0001944_abnormal_pancreas_morphology0.80701640
131MP0005670_abnormal_white_adipose0.80543504
132MP0000477_abnormal_intestine_morphology0.80522843
133* MP0002452_abnormal_antigen_presenting0.80277877
134MP0006036_abnormal_mitochondrial_physio0.79531036
135MP0005584_abnormal_enzyme/coenzyme_acti0.79340600
136MP0002282_abnormal_trachea_morphology0.79147844
137MP0002405_respiratory_system_inflammati0.77879460
138MP0004087_abnormal_muscle_fiber0.76921865
139* MP0002723_abnormal_immune_serum0.76190072
140MP0005220_abnormal_exocrine_pancreas0.75763650
141* MP0000716_abnormal_immune_system0.74587484
142MP0001879_abnormal_lymphatic_vessel0.74336284
143* MP0000703_abnormal_thymus_morphology0.73895406
144MP0003111_abnormal_nucleus_morphology0.73882799
145MP0009764_decreased_sensitivity_to0.73868524
146MP0005023_abnormal_wound_healing0.73360864
147MP0000465_gastrointestinal_hemorrhage0.72838757
148MP0000371_diluted_coat_color0.72562057
149MP0010155_abnormal_intestine_physiology0.72425329
150MP0010094_abnormal_chromosome_stability0.71862061
151MP0002177_abnormal_outer_ear0.71091433
152* MP0009703_decreased_birth_body0.69856372
153MP0003329_amyloid_beta_deposits0.69796709
154MP0009931_abnormal_skin_appearance0.69600124
155MP0002086_abnormal_extraembryonic_tissu0.69457098
156MP0001915_intracranial_hemorrhage0.69155751
157MP0002168_other_aberrant_phenotype0.68892177
158* MP0009643_abnormal_urine_homeostasis0.68698215
159MP0005187_abnormal_penis_morphology0.67288254
160MP0000639_abnormal_adrenal_gland0.66835895
161MP0009333_abnormal_splenocyte_physiolog0.66744596
162MP0005666_abnormal_adipose_tissue0.66517962
163* MP0002429_abnormal_blood_cell0.66158550
164MP0003115_abnormal_respiratory_system0.65473672
165MP0001697_abnormal_embryo_size0.65369316
166MP0003866_abnormal_defecation0.65180781
167MP0009763_increased_sensitivity_to0.64674381
168MP0002127_abnormal_cardiovascular_syste0.64286658
169MP0003868_abnormal_feces_composition0.64081754
170MP0005503_abnormal_tendon_morphology0.63712044
171* MP0002085_abnormal_embryonic_tissue0.63625162
172MP0005381_digestive/alimentary_phenotyp0.63452040
173MP0008057_abnormal_DNA_replication0.63244202
174MP0000367_abnormal_coat/_hair0.63243903
175MP0000490_abnormal_crypts_of0.62527363
176MP0004185_abnormal_adipocyte_glucose0.61734007
177MP0003656_abnormal_erythrocyte_physiolo0.61561641
178* MP0001845_abnormal_inflammatory_respons0.60891539
179* MP0004883_abnormal_blood_vessel0.60583525
180* MP0002420_abnormal_adaptive_immunity0.58640529
181MP0001853_heart_inflammation0.57913553

Predicted human phenotypes

RankGene SetZ-score
1Concave nail (HP:0001598)8.73758768
2Rhabdomyosarcoma (HP:0002859)7.86371771
3Neoplasm of striated muscle (HP:0009728)5.94521422
4J-shaped sella turcica (HP:0002680)5.84965850
5Asymmetry of the thorax (HP:0001555)5.80028192
6Curly hair (HP:0002212)5.55511999
7Deep venous thrombosis (HP:0002625)5.36959150
8IgM deficiency (HP:0002850)5.34039046
9Reticulocytopenia (HP:0001896)5.14981173
10Absent frontal sinuses (HP:0002688)4.91177886
11Septate vagina (HP:0001153)4.71001025
12Cellulitis (HP:0100658)4.28454310
13Sparse lateral eyebrow (HP:0005338)4.22430608
14Obstructive sleep apnea (HP:0002870)4.20887861
15Microglossia (HP:0000171)4.16022890
16Spastic diplegia (HP:0001264)3.93566180
17Abnormality of monocarboxylic acid metabolism (HP:0010996)3.92194951
18Intrahepatic cholestasis (HP:0001406)3.87443342
19Abnormal number of erythroid precursors (HP:0012131)3.86795109
20Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)3.86215791
21Xanthomatosis (HP:0000991)3.85799251
22Interstitial pulmonary disease (HP:0006530)3.82335251
23Thyroiditis (HP:0100646)3.70794413
24Deformed sella turcica (HP:0002681)3.70066084
25Bronchomalacia (HP:0002780)3.69868896
26Abnormality of aromatic amino acid family metabolism (HP:0004338)3.67365631
27Joint hemorrhage (HP:0005261)3.60981543
28Colitis (HP:0002583)3.44040563
29Prolonged partial thromboplastin time (HP:0003645)3.40022595
30Long toe (HP:0010511)3.39609170
31Autoimmune thrombocytopenia (HP:0001973)3.35161505
32Abnormality of the frontal sinuses (HP:0002687)3.28063100
33Complement deficiency (HP:0004431)3.27592963
34Breast carcinoma (HP:0003002)3.27010326
35Thrombocytosis (HP:0001894)3.24917261
36Germ cell neoplasia (HP:0100728)3.23734218
37Hypobetalipoproteinemia (HP:0003563)3.22642310
38Abnormality of cells of the erythroid lineage (HP:0012130)3.22010498
39Enlarged penis (HP:0000040)3.16254255
40Aplasia/Hypoplasia involving the sinuses (HP:0009120)3.13900472
41Spinal cord lesions (HP:0100561)3.12734023
42Syringomyelia (HP:0003396)3.12734023
43Gastrointestinal inflammation (HP:0004386)3.11115110
44Testicular neoplasm (HP:0010788)3.07954964
45Epidermoid cyst (HP:0200040)3.03933260
46Agammaglobulinemia (HP:0004432)2.97379970
47Myocardial infarction (HP:0001658)2.96895074
48Abnormality of iron homeostasis (HP:0011031)2.92977587
49Inflammation of the large intestine (HP:0002037)2.91197296
50Ketosis (HP:0001946)2.88315154
51Overgrowth (HP:0001548)2.87121992
52Macroorchidism (HP:0000053)2.86791521
53Increased serum ferritin (HP:0003281)2.86208537
54Abnormality of pyrimidine metabolism (HP:0004353)2.84892130
55Hyperammonemia (HP:0001987)2.84153640
56Hypophosphatemic rickets (HP:0004912)2.83256748
57Abnormality of the sella turcica (HP:0002679)2.81086711
58Chromosomal breakage induced by crosslinking agents (HP:0003221)2.79844706
59Verrucae (HP:0200043)2.79286938
60Papilloma (HP:0012740)2.79286938
61Large earlobe (HP:0009748)2.76044769
62Prolonged bleeding time (HP:0003010)2.74785127
63Chromsome breakage (HP:0040012)2.72275486
64Thin bony cortex (HP:0002753)2.68421003
65Abnormality of reticulocytes (HP:0004312)2.67224384
66Abnormality of the Achilles tendon (HP:0005109)2.64947606
67Papillary thyroid carcinoma (HP:0002895)2.64520084
68Abnormality of nucleobase metabolism (HP:0010932)2.64365852
69Hypochromic anemia (HP:0001931)2.60620646
70Abnormality of transition element cation homeostasis (HP:0011030)2.59527310
71Hyperlipoproteinemia (HP:0010980)2.59370294
72Hypercholesterolemia (HP:0003124)2.58415530
73Abnormality of complement system (HP:0005339)2.55382694
74Abnormality of purine metabolism (HP:0004352)2.54102712
75Deep philtrum (HP:0002002)2.53913475
76Micronodular cirrhosis (HP:0001413)2.52144157
77Sudden death (HP:0001699)2.50555482
78Angiofibromas (HP:0010615)2.47721313
79Adenoma sebaceum (HP:0009720)2.47721313
80Bladder carcinoma (HP:0002862)2.46943411
81Bladder neoplasm (HP:0009725)2.46943411
82Ulnar bowing (HP:0003031)2.46539205
83Hyperacusis (HP:0010780)2.46311425
84Pallor (HP:0000980)2.45922042
85Skin nodule (HP:0200036)2.45164918
86Abnormality of the common coagulation pathway (HP:0010990)2.45145650
87Distal lower limb muscle weakness (HP:0009053)2.43928324
88Deep palmar crease (HP:0006191)2.43411070
89Flat acetabular roof (HP:0003180)2.43354345
90Macrocytic anemia (HP:0001972)2.42781969
91Abnormality of the fingertips (HP:0001211)2.42401953
92Abnormal platelet function (HP:0011869)2.42357010
93Impaired platelet aggregation (HP:0003540)2.42357010
94Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.37749071
95Buphthalmos (HP:0000557)2.37485763
96Abnormality of glutamine family amino acid metabolism (HP:0010902)2.33995686
97Abnormality of glycine metabolism (HP:0010895)2.33169394
98Abnormality of serine family amino acid metabolism (HP:0010894)2.33169394
99Abnormality of T cell physiology (HP:0011840)2.32950021
100IgA deficiency (HP:0002720)2.32281568
101Exostoses (HP:0100777)2.32201184
102Hypertriglyceridemia (HP:0002155)2.31572627
103Achilles tendon contracture (HP:0001771)2.31435512
104Thyroid carcinoma (HP:0002890)2.31331304
105Hypolipoproteinemia (HP:0010981)2.29992457
106Congenital glaucoma (HP:0001087)2.29376194
107Redundant skin (HP:0001582)2.28418111
108Mildly elevated creatine phosphokinase (HP:0008180)2.27949627
109Hypoparathyroidism (HP:0000829)2.27941892
110Spinal cord compression (HP:0002176)2.26872885
111Gingival bleeding (HP:0000225)2.26814393
112Polycythemia (HP:0001901)2.24957583
113Abnormality of sulfur amino acid metabolism (HP:0004339)2.22111852
114Rectal prolapse (HP:0002035)2.22049384
115Abnormal platelet volume (HP:0011876)2.21684287
116Abnormality of the fetal cardiovascular system (HP:0010948)2.20774131
117Abnormal umbilical cord blood vessels (HP:0011403)2.20774131
118Single umbilical artery (HP:0001195)2.20774131
119Abnormality of the distal phalanges of the toes (HP:0010182)2.18572092
120Insidious onset (HP:0003587)2.16678885
121Termporal pattern (HP:0011008)2.16678885
122Hypoglycemic coma (HP:0001325)2.15076840
123Osteomyelitis (HP:0002754)2.14715675
124Hyperglycinuria (HP:0003108)2.13860857
125Petechiae (HP:0000967)2.13656751
126Genu recurvatum (HP:0002816)2.12935354
127Abnormality of the umbilical cord (HP:0010881)2.12903533
128Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.11516626
129Hypopigmentation of the fundus (HP:0007894)2.10691888
130Lip pit (HP:0100267)2.10554533
131Fatigue (HP:0012378)2.07171482
132Hypokinesia (HP:0002375)2.06177882
133Epistaxis (HP:0000421)2.05115878
134Skin rash (HP:0000988)2.04242965
135Abdominal distention (HP:0003270)2.04148286
136Hyperglycinemia (HP:0002154)2.03840985
137Abnormality of the intrinsic pathway (HP:0010989)2.03722925
138Insulin resistance (HP:0000855)2.03718152
139Ketoacidosis (HP:0001993)2.03715962
140Megalencephaly (HP:0001355)2.03573670
141Hoarse voice (HP:0001609)2.01497871
142Late onset (HP:0003584)2.01414702
143Ankle contracture (HP:0006466)2.00642192
144Adrenal hypoplasia (HP:0000835)2.00511667
145Testicular atrophy (HP:0000029)1.99783097
146Arnold-Chiari malformation (HP:0002308)1.99490891
147Hypoalphalipoproteinemia (HP:0003233)1.99456569
148Lymphangioma (HP:0100764)1.99447376
149Mitral stenosis (HP:0001718)1.98632793
150Hyporeflexia of lower limbs (HP:0002600)1.98351732
151Hyperparathyroidism (HP:0000843)1.98318829
152Purpura (HP:0000979)1.98109099
153Meningitis (HP:0001287)1.95974503
154Hyperbilirubinemia (HP:0002904)1.95453743
155Broad face (HP:0000283)1.94591600
156Spontaneous hematomas (HP:0007420)1.94054552
157Cutaneous melanoma (HP:0012056)1.93043377
158Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.92805665
159Papilledema (HP:0001085)1.92222003
160Hypophosphatemia (HP:0002148)1.91307704
161Type 1 muscle fiber predominance (HP:0003803)1.90596182
162Tetraparesis (HP:0002273)1.89510560
163Fat malabsorption (HP:0002630)1.86692187
164Recurrent bronchitis (HP:0002837)1.86483764
165Gout (HP:0001997)1.86120565
166Sepsis (HP:0100806)1.85681159
167Midline defect of the nose (HP:0004122)1.85402643
168High pitched voice (HP:0001620)1.84889649
169Metaphyseal cupping (HP:0003021)1.83577706
170Abnormal urine phosphate concentration (HP:0012599)1.82625818
171Abnormality of aspartate family amino acid metabolism (HP:0010899)1.80904370
172Cavernous hemangioma (HP:0001048)1.79920445
173Systemic lupus erythematosus (HP:0002725)1.78557873
174Neoplasm of the peripheral nervous system (HP:0100007)1.78470222
175Generalized hyperpigmentation (HP:0007440)1.76609769
176Barrel-shaped chest (HP:0001552)1.76492828
177Urticaria (HP:0001025)1.76307781
178Hypoplastic toenails (HP:0001800)1.74583429
179Tracheomalacia (HP:0002779)1.73286421
180Aplasia of the musculature (HP:0100854)1.71765298
181Woolly hair (HP:0002224)1.71092896
182Acanthosis nigricans (HP:0000956)1.69359512
183Esophageal varix (HP:0002040)1.68778676
184Meningioma (HP:0002858)1.68671484
185Abnormality of dental color (HP:0011073)1.67122262
186Patellar dislocation (HP:0002999)1.66608220
187Neoplasm of the thyroid gland (HP:0100031)1.64701079
188Right ventricular cardiomyopathy (HP:0011663)1.62209996
189Abnormality of the phalanges of the hallux (HP:0010057)1.61381376
190Hypercortisolism (HP:0001578)1.61258397
191Precocious puberty (HP:0000826)1.61194748
192Morphological abnormality of the middle ear (HP:0008609)1.59336025
193Asymmetric growth (HP:0100555)1.58955256

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN16.52958887
2BTK4.56153255
3EEF2K3.87455889
4TRIB33.71999181
5PIK3CA3.54507784
6SIK13.02634222
7TNK22.99602989
8MAP3K102.92778434
9MAP4K12.89367719
10PKN22.85298483
11MAP3K122.54788023
12PIM22.48446279
13BCKDK2.32651209
14NEK62.31263427
15SYK2.19935749
16MUSK2.06158401
17EPHA22.04764474
18IRAK31.95178783
19SCYL21.90449362
20TESK11.89208395
21MYLK1.74338702
22BMX1.73217875
23LRRK21.71857908
24STK101.71191461
25NME21.61478919
26SMG11.57420056
27CDK41.55660080
28MAP3K71.53465232
29MAPK111.50690080
30EPHB11.48331967
31CDC71.47859114
32CSF1R1.47232328
33PTK61.43749642
34PDGFRA1.42042617
35JAK31.34925653
36SIK21.31696040
37FRK1.28076742
38MAP2K21.28011606
39RET1.24486527
40TTN1.18462622
41* CHUK1.17066966
42MAPK121.16617873
43MAP2K31.16076822
44KDR1.15505969
45ICK1.11879072
46AKT31.06212095
47FER1.04891054
48RIPK11.04652043
49TAOK31.03507240
50FGFR21.02492921
51EIF2AK10.99260546
52RPS6KB20.97718127
53PRKCI0.96716003
54MAP2K10.93610320
55MAP3K110.88968423
56HCK0.88817017
57PDPK10.86994610
58PTK20.86489731
59CDK60.86231522
60TAOK10.85858796
61TRIM280.84692532
62PIM10.83840649
63ALK0.83836129
64PAK40.83452342
65PIK3CG0.83182127
66MAPKAPK30.81878789
67MAP3K80.81473669
68EIF2AK30.79480816
69TESK20.79187077
70GRK10.75584887
71CDK80.74875203
72HIPK20.74138553
73RAF10.72518381
74ZAP700.71198019
75* MAPK40.70880593
76ILK0.70535830
77LIMK10.69339312
78TBK10.69139180
79PRKCH0.68972850
80CAMKK10.66809625
81GRK50.66183627
82ERBB40.65305263
83* RPS6KA20.65012854
84MTOR0.64884122
85GRK60.64147877
86BUB10.63953216
87* RPS6KB10.61744398
88MARK20.59195093
89LYN0.57829194
90MAP3K30.55863084
91FLT30.55863031
92FGFR40.54173106
93JAK20.53060152
94CAMK1D0.52591421
95* LCK0.52204410
96TYK20.51644196
97TGFBR10.51600019
98PRKD20.51201105
99PRKD10.49433135
100FES0.49133681
101CDK120.47292461
102DYRK1B0.47200983
103CAMK1G0.46919495
104PAK20.46466260
105TEC0.46193449
106ATR0.45371551
107* PAK10.45358999
108PASK0.45027584
109FGFR10.44983505
110STK390.43364129
111IKBKB0.43349222
112FGFR30.43263189
113CDK190.43156000
114PDGFRB0.42348601
115TYRO30.40890706
116CAMK2G0.38366107
117TAOK20.38203101
118MAP3K90.37835626
119NLK0.36824854
120CSK0.36099074
121PNCK0.36090761
122PDK10.36074956
123* MAPK30.35249202
124GSK3A0.35018183
125* MAPKAPK20.34396902
126* ABL10.34176100
127* RPS6KA10.33004222
128MST1R0.32068510
129STK380.31137052
130PRKAA20.30780238
131LATS20.30387360
132DMPK0.30360428
133ADRBK20.30194847
134CAMK2B0.29731614
135MAP3K20.29660627
136* RPS6KC10.29556555
137* RPS6KL10.29556555
138SIK30.29554786
139TRPM70.28826135
140IRAK20.27685111
141* RPS6KA60.27479427
142PAK30.27429444
143* CDK20.27292126
144STK30.27254714
145PRKG20.26238780
146* CDK70.26174336
147SGK30.25910158
148LATS10.24556301
149BMPR20.23394327
150MELK0.22573325
151CAMK2D0.22085769
152MAPK90.20996911
153* MAPK80.20597782
154CSNK1D0.19289723
155MAPK100.19213660
156ROCK10.19089975
157PRKCZ0.18814567
158YES10.18635586
159* MAPK140.17093112
160KSR10.17058196
161MAP3K10.16115022
162* AKT20.13228167

Predicted pathways (KEGG)

RankGene SetZ-score
1Cyanoamino acid metabolism_Homo sapiens_hsa004604.06802913
2Thyroid cancer_Homo sapiens_hsa052163.80825811
3Primary bile acid biosynthesis_Homo sapiens_hsa001203.26733701
4Endometrial cancer_Homo sapiens_hsa052133.16179692
5One carbon pool by folate_Homo sapiens_hsa006703.10250281
6Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.96604514
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.84533965
8Longevity regulating pathway - multiple species_Homo sapiens_hsa042132.76327955
9Bladder cancer_Homo sapiens_hsa052192.73703544
10Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.72705773
11Nitrogen metabolism_Homo sapiens_hsa009102.62299655
12Longevity regulating pathway - mammal_Homo sapiens_hsa042112.40641154
13Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.33998950
14Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.27885681
15Drug metabolism - other enzymes_Homo sapiens_hsa009832.26867614
16Arginine biosynthesis_Homo sapiens_hsa002202.23807349
17Prostate cancer_Homo sapiens_hsa052152.23295269
18Renal cell carcinoma_Homo sapiens_hsa052112.20372237
19Caffeine metabolism_Homo sapiens_hsa002322.09206315
20ErbB signaling pathway_Homo sapiens_hsa040122.09105627
21Pentose and glucuronate interconversions_Homo sapiens_hsa000401.99790710
22Melanoma_Homo sapiens_hsa052181.97412886
23mTOR signaling pathway_Homo sapiens_hsa041501.95036192
24Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.94827022
25Complement and coagulation cascades_Homo sapiens_hsa046101.94486760
26DNA replication_Homo sapiens_hsa030301.92231972
27* Prolactin signaling pathway_Homo sapiens_hsa049171.91631916
28* Estrogen signaling pathway_Homo sapiens_hsa049151.91400792
292-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.87875213
30Fatty acid degradation_Homo sapiens_hsa000711.86056596
31Tryptophan metabolism_Homo sapiens_hsa003801.81316289
32* Thyroid hormone signaling pathway_Homo sapiens_hsa049191.76271093
33Folate biosynthesis_Homo sapiens_hsa007901.75115219
34Choline metabolism in cancer_Homo sapiens_hsa052311.71464647
35Biosynthesis of amino acids_Homo sapiens_hsa012301.70387068
36beta-Alanine metabolism_Homo sapiens_hsa004101.70245909
37Phenylalanine metabolism_Homo sapiens_hsa003601.70044252
38Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.64508868
39Propanoate metabolism_Homo sapiens_hsa006401.63696324
40Selenocompound metabolism_Homo sapiens_hsa004501.62237158
41PPAR signaling pathway_Homo sapiens_hsa033201.58648501
42Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.53671337
43Mismatch repair_Homo sapiens_hsa034301.50806661
44Hepatitis C_Homo sapiens_hsa051601.48318482
45Ribosome_Homo sapiens_hsa030101.44083308
46Chemical carcinogenesis_Homo sapiens_hsa052041.43177415
47Carbon metabolism_Homo sapiens_hsa012001.41694389
48Fatty acid metabolism_Homo sapiens_hsa012121.41357136
49Histidine metabolism_Homo sapiens_hsa003401.39617852
50Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.34797950
51Tight junction_Homo sapiens_hsa045301.34508812
52Butanoate metabolism_Homo sapiens_hsa006501.34478211
53Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.33663852
54Base excision repair_Homo sapiens_hsa034101.33160941
55* Proteoglycans in cancer_Homo sapiens_hsa052051.32359957
56Peroxisome_Homo sapiens_hsa041461.31624104
57B cell receptor signaling pathway_Homo sapiens_hsa046621.26244010
58Staphylococcus aureus infection_Homo sapiens_hsa051501.25479340
59Steroid hormone biosynthesis_Homo sapiens_hsa001401.24961078
60* Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.22629802
61Pyruvate metabolism_Homo sapiens_hsa006201.22044008
62Pentose phosphate pathway_Homo sapiens_hsa000301.21773808
63Lysine degradation_Homo sapiens_hsa003101.20991595
64Neurotrophin signaling pathway_Homo sapiens_hsa047221.19704050
65Cysteine and methionine metabolism_Homo sapiens_hsa002701.14158075
66Sphingolipid signaling pathway_Homo sapiens_hsa040711.13005314
67Pancreatic cancer_Homo sapiens_hsa052121.09769401
68Fructose and mannose metabolism_Homo sapiens_hsa000511.09414319
69Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.05744813
70Focal adhesion_Homo sapiens_hsa045101.05443880
71Starch and sucrose metabolism_Homo sapiens_hsa005001.03738132
72MicroRNAs in cancer_Homo sapiens_hsa052061.01714560
73FoxO signaling pathway_Homo sapiens_hsa040681.01255869
74Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.99485421
75Small cell lung cancer_Homo sapiens_hsa052220.97587659
76Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.92768886
77Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.91090869
78Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.91077059
79Phosphatidylinositol signaling system_Homo sapiens_hsa040700.90892259
80Tyrosine metabolism_Homo sapiens_hsa003500.89826535
81Non-small cell lung cancer_Homo sapiens_hsa052230.87206390
82ABC transporters_Homo sapiens_hsa020100.87134865
83Inositol phosphate metabolism_Homo sapiens_hsa005620.85196011
84Phospholipase D signaling pathway_Homo sapiens_hsa040720.84159124
85Vibrio cholerae infection_Homo sapiens_hsa051100.82945354
86Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.82649723
87Bile secretion_Homo sapiens_hsa049760.81950818
88Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.79622285
89Retinol metabolism_Homo sapiens_hsa008300.79340956
90Glutathione metabolism_Homo sapiens_hsa004800.78916898
91Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.78726523
92Regulation of actin cytoskeleton_Homo sapiens_hsa048100.77443529
93Sulfur relay system_Homo sapiens_hsa041220.76899015
94Homologous recombination_Homo sapiens_hsa034400.76209060
95Chronic myeloid leukemia_Homo sapiens_hsa052200.74849343
96Fatty acid biosynthesis_Homo sapiens_hsa000610.73498141
97T cell receptor signaling pathway_Homo sapiens_hsa046600.72232747
98Melanogenesis_Homo sapiens_hsa049160.71697136
99Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.70057663
100Endocytosis_Homo sapiens_hsa041440.69535833
101Transcriptional misregulation in cancer_Homo sapiens_hsa052020.69281843
102TNF signaling pathway_Homo sapiens_hsa046680.68867384
103Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.68005700
104Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.67490318
105Glycosaminoglycan degradation_Homo sapiens_hsa005310.67015436
106Arginine and proline metabolism_Homo sapiens_hsa003300.67010563
107Acute myeloid leukemia_Homo sapiens_hsa052210.66718001
108Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.65746011
109Notch signaling pathway_Homo sapiens_hsa043300.65716648
110HIF-1 signaling pathway_Homo sapiens_hsa040660.65685670
111GnRH signaling pathway_Homo sapiens_hsa049120.65423073
112cGMP-PKG signaling pathway_Homo sapiens_hsa040220.64859487
113Colorectal cancer_Homo sapiens_hsa052100.64459997
114TGF-beta signaling pathway_Homo sapiens_hsa043500.63638159
115Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.63525839
116Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.62398230
117Sulfur metabolism_Homo sapiens_hsa009200.62169870
118Lysosome_Homo sapiens_hsa041420.61211457
119Insulin resistance_Homo sapiens_hsa049310.60368222
120Pyrimidine metabolism_Homo sapiens_hsa002400.59541367
121Apoptosis_Homo sapiens_hsa042100.59509206
122Jak-STAT signaling pathway_Homo sapiens_hsa046300.57708084
123Type II diabetes mellitus_Homo sapiens_hsa049300.55070404
124PI3K-Akt signaling pathway_Homo sapiens_hsa041510.55026212
125Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.54326523
126Gap junction_Homo sapiens_hsa045400.53412705
127Spliceosome_Homo sapiens_hsa030400.51684094
128Axon guidance_Homo sapiens_hsa043600.51353909
129Primary immunodeficiency_Homo sapiens_hsa053400.50500757
130Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.49694974
131Amoebiasis_Homo sapiens_hsa051460.49469638
132Glycerolipid metabolism_Homo sapiens_hsa005610.48929991
133Glioma_Homo sapiens_hsa052140.47559485
134Fat digestion and absorption_Homo sapiens_hsa049750.47193857
135Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.46289569
136Sphingolipid metabolism_Homo sapiens_hsa006000.45800177
137Dilated cardiomyopathy_Homo sapiens_hsa054140.45701247
138Adipocytokine signaling pathway_Homo sapiens_hsa049200.45100560
139Other glycan degradation_Homo sapiens_hsa005110.44320869
140Cholinergic synapse_Homo sapiens_hsa047250.44247489
141Hippo signaling pathway_Homo sapiens_hsa043900.43655503
142Pathways in cancer_Homo sapiens_hsa052000.43248613
143Viral carcinogenesis_Homo sapiens_hsa052030.42834454
144Long-term potentiation_Homo sapiens_hsa047200.41537003
145Long-term depression_Homo sapiens_hsa047300.40352895
146N-Glycan biosynthesis_Homo sapiens_hsa005100.40234161
147Platelet activation_Homo sapiens_hsa046110.38304779
148Fatty acid elongation_Homo sapiens_hsa000620.37897352
149Nucleotide excision repair_Homo sapiens_hsa034200.37676093
150AMPK signaling pathway_Homo sapiens_hsa041520.33709134
151Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.32575202
152Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.31850820
153Rap1 signaling pathway_Homo sapiens_hsa040150.31473729
154Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.31361489
155Ovarian steroidogenesis_Homo sapiens_hsa049130.31355796
156Insulin signaling pathway_Homo sapiens_hsa049100.31020742
157mRNA surveillance pathway_Homo sapiens_hsa030150.30235824
158Oxytocin signaling pathway_Homo sapiens_hsa049210.30190642
159Cell cycle_Homo sapiens_hsa041100.24674418
160AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.24341417
161NF-kappa B signaling pathway_Homo sapiens_hsa040640.23271634
162Vitamin digestion and absorption_Homo sapiens_hsa049770.21995585
163HTLV-I infection_Homo sapiens_hsa051660.21009811
164Glucagon signaling pathway_Homo sapiens_hsa049220.20775629
165Central carbon metabolism in cancer_Homo sapiens_hsa052300.20534475
166Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.20100791
167Metabolic pathways_Homo sapiens_hsa011000.19673013
168Leishmaniasis_Homo sapiens_hsa051400.18786428
169Leukocyte transendothelial migration_Homo sapiens_hsa046700.16591582
170Hepatitis B_Homo sapiens_hsa051610.15677711
171Osteoclast differentiation_Homo sapiens_hsa043800.14846565
172Maturity onset diabetes of the young_Homo sapiens_hsa049500.13012639
173Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.11412041
174VEGF signaling pathway_Homo sapiens_hsa043700.09906656

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