BCHE

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





Description: This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.14393711
2L-phenylalanine catabolic process (GO:0006559)7.14393711
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.79232867
4L-phenylalanine metabolic process (GO:0006558)6.79232867
5presynaptic membrane assembly (GO:0097105)6.41505730
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.23706701
7aromatic amino acid family catabolic process (GO:0009074)6.17291580
8postsynaptic membrane organization (GO:0001941)5.82783124
9alpha-linolenic acid metabolic process (GO:0036109)5.73875544
10presynaptic membrane organization (GO:0097090)5.54220105
11urea cycle (GO:0000050)5.53230903
12urea metabolic process (GO:0019627)5.53230903
13bile acid biosynthetic process (GO:0006699)5.41586687
14tryptophan catabolic process (GO:0006569)5.29825438
15indole-containing compound catabolic process (GO:0042436)5.29825438
16indolalkylamine catabolic process (GO:0046218)5.29825438
17kynurenine metabolic process (GO:0070189)5.24978910
18glyoxylate metabolic process (GO:0046487)5.22364886
19high-density lipoprotein particle remodeling (GO:0034375)5.16417880
20sulfur amino acid catabolic process (GO:0000098)5.16166738
21cysteine metabolic process (GO:0006534)5.08516986
22nitrogen cycle metabolic process (GO:0071941)5.08041149
23negative regulation of fibrinolysis (GO:0051918)5.04065437
24complement activation, alternative pathway (GO:0006957)5.03660152
25tryptophan metabolic process (GO:0006568)5.01555319
26regulation of triglyceride catabolic process (GO:0010896)5.00362695
27peptidyl-glutamic acid carboxylation (GO:0017187)4.90054038
28protein carboxylation (GO:0018214)4.90054038
29fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.86534138
30bile acid metabolic process (GO:0008206)4.83814881
31regulation of protein activation cascade (GO:2000257)4.81170255
32regulation of fibrinolysis (GO:0051917)4.80029360
33pyrimidine nucleobase catabolic process (GO:0006208)4.77149344
34homocysteine metabolic process (GO:0050667)4.70128659
35serine family amino acid catabolic process (GO:0009071)4.69672463
36acylglycerol homeostasis (GO:0055090)4.66345208
37triglyceride homeostasis (GO:0070328)4.66345208
38regulation of cholesterol esterification (GO:0010872)4.65413634
39plasma lipoprotein particle clearance (GO:0034381)4.62080632
40reverse cholesterol transport (GO:0043691)4.61287384
41plasma lipoprotein particle remodeling (GO:0034369)4.55785053
42protein-lipid complex remodeling (GO:0034368)4.55785053
43macromolecular complex remodeling (GO:0034367)4.55785053
44tyrosine metabolic process (GO:0006570)4.51903810
45amino-acid betaine metabolic process (GO:0006577)4.50175152
46neuron cell-cell adhesion (GO:0007158)4.50106187
47regulation of complement activation (GO:0030449)4.49562124
48lysine catabolic process (GO:0006554)4.46085517
49lysine metabolic process (GO:0006553)4.46085517
50aromatic amino acid family metabolic process (GO:0009072)4.44885341
51phospholipid efflux (GO:0033700)4.41687995
52alpha-amino acid catabolic process (GO:1901606)4.36624649
53negative regulation of cholesterol transport (GO:0032375)4.27167852
54negative regulation of sterol transport (GO:0032372)4.27167852
55cellular ketone body metabolic process (GO:0046950)4.23697364
56bile acid and bile salt transport (GO:0015721)4.18552042
57nonmotile primary cilium assembly (GO:0035058)4.17131014
58cholesterol efflux (GO:0033344)4.12281992
59positive regulation of lipid catabolic process (GO:0050996)4.07239927
60cellular amino acid catabolic process (GO:0009063)4.05884151
61cellular glucuronidation (GO:0052695)4.03639427
62drug catabolic process (GO:0042737)3.99032958
63plasma lipoprotein particle assembly (GO:0034377)3.98310388
64positive regulation of fatty acid beta-oxidation (GO:0032000)3.97101131
65limb bud formation (GO:0060174)3.94561345
66coenzyme catabolic process (GO:0009109)3.93903153
67axonal fasciculation (GO:0007413)3.93458560
68ethanol oxidation (GO:0006069)3.92760396
69acetyl-CoA metabolic process (GO:0006084)3.91816205
70mechanosensory behavior (GO:0007638)3.90988465
71phospholipid homeostasis (GO:0055091)3.89762620
72glycine metabolic process (GO:0006544)3.88851723
73C4-dicarboxylate transport (GO:0015740)3.88685866
74imidazole-containing compound metabolic process (GO:0052803)3.87287570
75glutamate metabolic process (GO:0006536)3.85995801
76short-chain fatty acid metabolic process (GO:0046459)3.83076676
77cholesterol homeostasis (GO:0042632)3.81615290
78very-low-density lipoprotein particle assembly (GO:0034379)3.80325820
79fatty acid beta-oxidation (GO:0006635)3.79982876
80arginine metabolic process (GO:0006525)3.78527332
81serine family amino acid metabolic process (GO:0009069)3.78249602
82low-density lipoprotein particle remodeling (GO:0034374)3.77754784
83regulation of bile acid biosynthetic process (GO:0070857)3.77603963
84indolalkylamine metabolic process (GO:0006586)3.77474476
85positive regulation of triglyceride lipase activity (GO:0061365)3.75772964
86positive regulation of lipoprotein lipase activity (GO:0051006)3.75772964
87sterol homeostasis (GO:0055092)3.75259602
88negative regulation of lipase activity (GO:0060192)3.75176957
89fatty acid oxidation (GO:0019395)3.72041142
90organic acid catabolic process (GO:0016054)3.71142546
91carboxylic acid catabolic process (GO:0046395)3.71142546
92benzene-containing compound metabolic process (GO:0042537)3.69924704
93nucleobase catabolic process (GO:0046113)3.69874087
94cellular modified amino acid catabolic process (GO:0042219)3.68575768
95intestinal cholesterol absorption (GO:0030299)3.67819249
96monocarboxylic acid catabolic process (GO:0072329)3.66589638
97ketone body metabolic process (GO:1902224)3.66076146
98flavonoid metabolic process (GO:0009812)3.65568639
99lipid oxidation (GO:0034440)3.64695582
100fatty acid catabolic process (GO:0009062)3.63852058
101cellular biogenic amine catabolic process (GO:0042402)3.62148931
102amine catabolic process (GO:0009310)3.62148931
103protein-lipid complex assembly (GO:0065005)3.61489915
104serine family amino acid biosynthetic process (GO:0009070)3.61423900
105neuron recognition (GO:0008038)3.60928106
106dicarboxylic acid biosynthetic process (GO:0043650)3.60910731
107fibrinolysis (GO:0042730)3.58547237
108uronic acid metabolic process (GO:0006063)3.56467883
109glucuronate metabolic process (GO:0019585)3.56467883
110plasma lipoprotein particle organization (GO:0071827)3.54171586
111retinal ganglion cell axon guidance (GO:0031290)3.53536805
1122-oxoglutarate metabolic process (GO:0006103)3.53323772
113regulation of cholesterol homeostasis (GO:2000188)3.52488315
114auditory behavior (GO:0031223)3.50795174
115glial cell proliferation (GO:0014009)3.36899186
116negative regulation of cytosolic calcium ion concentration (GO:0051481)3.36613236
117exogenous drug catabolic process (GO:0042738)3.35000522
118regulation of cilium movement (GO:0003352)3.33729777
119neuronal stem cell maintenance (GO:0097150)3.33421180
120neurotransmitter-gated ion channel clustering (GO:0072578)3.21453262
121startle response (GO:0001964)3.11886390
122cellular response to leptin stimulus (GO:0044320)3.11473614
123central nervous system projection neuron axonogenesis (GO:0021952)3.10884878
124regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.96553642
125fatty acid elongation (GO:0030497)2.95092636
126oligodendrocyte differentiation (GO:0048709)2.94510852
127ionotropic glutamate receptor signaling pathway (GO:0035235)2.93688622
128vascular smooth muscle contraction (GO:0014829)2.93529747
129neurotransmitter uptake (GO:0001504)2.89213234
130gamma-aminobutyric acid transport (GO:0015812)2.88061667
131neuronal action potential propagation (GO:0019227)2.87989217
132omega-hydroxylase P450 pathway (GO:0097267)2.79909161
133protein localization to synapse (GO:0035418)2.79780429
134synapse assembly (GO:0007416)2.77022161
135vocalization behavior (GO:0071625)2.75171449
136cellular response to cholesterol (GO:0071397)2.74393766
137cerebral cortex radially oriented cell migration (GO:0021799)2.74334743
138forebrain neuron differentiation (GO:0021879)2.73703303
139oxidative demethylation (GO:0070989)2.71108166
140response to auditory stimulus (GO:0010996)2.69614432
141positive regulation of synapse assembly (GO:0051965)2.68332727
142inner ear receptor stereocilium organization (GO:0060122)2.66233718
143epoxygenase P450 pathway (GO:0019373)2.65328756
144calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.64727623
145appendage development (GO:0048736)2.64011493
146limb development (GO:0060173)2.64011493
147astrocyte differentiation (GO:0048708)2.61984337
148regulation of cardiac muscle cell contraction (GO:0086004)2.60274287
149retinal cone cell development (GO:0046549)2.59271736
150L-serine metabolic process (GO:0006563)2.59180674
151response to leptin (GO:0044321)2.58929264
152aspartate family amino acid catabolic process (GO:0009068)2.58439045
153L-methionine salvage (GO:0071267)2.55629559
154L-methionine biosynthetic process (GO:0071265)2.55629559
155amino acid salvage (GO:0043102)2.55629559
156negative regulation of calcium ion-dependent exocytosis (GO:0045955)2.55406403
157detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.53094481
158spinal cord development (GO:0021510)2.52867467
159dermatan sulfate biosynthetic process (GO:0030208)2.52377708
160sympathetic nervous system development (GO:0048485)2.51944725
161positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.51658641
162response to pheromone (GO:0019236)2.50583292
163central nervous system neuron axonogenesis (GO:0021955)2.49573115
164regulation of neurotransmitter uptake (GO:0051580)2.49183404
165negative regulation of oligodendrocyte differentiation (GO:0048715)2.48028452
166cellular response to sterol (GO:0036315)2.47651180
167artery smooth muscle contraction (GO:0014824)2.46573414
168retinal rod cell development (GO:0046548)2.46150882
169regulation of respiratory system process (GO:0044065)2.44612367
170negative regulation of neurotransmitter transport (GO:0051589)2.41570077
171acidic amino acid transport (GO:0015800)2.38938190
172membrane assembly (GO:0071709)2.38736501
173negative regulation of transcription regulatory region DNA binding (GO:2000678)2.38275640
174positive regulation of mitochondrial fission (GO:0090141)2.36315393
175enteric nervous system development (GO:0048484)2.36301016
176cGMP-mediated signaling (GO:0019934)2.35927918
177cranial nerve development (GO:0021545)2.35607583
178synaptic transmission, glutamatergic (GO:0035249)2.35553486
179cilium morphogenesis (GO:0060271)2.35542758
180regulation of synapse assembly (GO:0051963)2.33354080
181regulation of microtubule-based movement (GO:0060632)2.33222766
182glial cell differentiation (GO:0010001)2.32778576
183signal peptide processing (GO:0006465)2.31569754
184carnitine metabolic process (GO:0009437)2.30311335
185mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.29687132
186response to nitrosative stress (GO:0051409)2.29510897
187negative regulation of appetite (GO:0032099)2.28681355
188negative regulation of response to food (GO:0032096)2.28681355

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse7.80403530
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse6.67726675
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.30481521
4PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.27689137
5* LXR_22158963_ChIP-Seq_LIVER_Mouse6.23736271
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.90496500
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.53987143
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.98488586
9GBX2_23144817_ChIP-Seq_PC3_Human3.77748253
10EZH2_22144423_ChIP-Seq_EOC_Human3.55366627
11CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.47197898
12* ZFP57_27257070_Chip-Seq_ESCs_Mouse2.80219338
13* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.58433994
14TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.56147083
15E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.52525560
16NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.52489220
17IGF1R_20145208_ChIP-Seq_DFB_Human2.45165026
18RBPJ_22232070_ChIP-Seq_NCS_Mouse2.43306248
19CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.31428465
20SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.24897428
21TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.22511441
22FUS_26573619_Chip-Seq_HEK293_Human2.21802206
23* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.21197287
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.20214329
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.19636635
26SALL1_21062744_ChIP-ChIP_HESCs_Human2.15929976
27ZNF274_21170338_ChIP-Seq_K562_Hela2.12444524
28CLOCK_20551151_ChIP-Seq_293T_Human2.10086887
29VDR_22108803_ChIP-Seq_LS180_Human2.06219656
30* TAF15_26573619_Chip-Seq_HEK293_Human2.03014043
31CBX2_27304074_Chip-Seq_ESCs_Mouse2.01564433
32ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.9402232
33TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.99884062
34P300_19829295_ChIP-Seq_ESCs_Human1.96902839
35OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.95890722
36* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.95139675
37HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.94951168
38HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.94671906
39* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.92989806
40SMAD4_21799915_ChIP-Seq_A2780_Human1.76513273
41GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.73331582
42FOXA2_19822575_ChIP-Seq_HepG2_Human1.72689843
43* EWS_26573619_Chip-Seq_HEK293_Human1.71382922
44AR_21572438_ChIP-Seq_LNCaP_Human1.70671700
45* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.67458099
46GATA1_22025678_ChIP-Seq_K562_Human1.63065907
47POU5F1_16153702_ChIP-ChIP_HESCs_Human1.62171821
48TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.54974131
49POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.54974131
50SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.48007590
51NR3C1_21868756_ChIP-Seq_MCF10A_Human1.47558120
52TOP2B_26459242_ChIP-Seq_MCF-7_Human1.46258366
53AR_25329375_ChIP-Seq_VCAP_Human1.45818612
54SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.43656280
55UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.42169719
56RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.41126457
57HTT_18923047_ChIP-ChIP_STHdh_Human1.40757973
58SMAD3_21741376_ChIP-Seq_EPCs_Human1.40436227
59* HNF4A_19822575_ChIP-Seq_HepG2_Human1.40165435
60KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.39728308
61SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.38594897
62STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.38113504
63ER_23166858_ChIP-Seq_MCF-7_Human1.37005363
64RNF2_27304074_Chip-Seq_NSC_Mouse1.35081972
65STAT3_23295773_ChIP-Seq_U87_Human1.35006981
66SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.34696622
67EZH2_27304074_Chip-Seq_ESCs_Mouse1.33489583
68STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.32431003
69MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.29937458
70EED_16625203_ChIP-ChIP_MESCs_Mouse1.27981252
71SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.26406512
72* NANOG_18555785_Chip-Seq_ESCs_Mouse1.24132596
73SOX2_27498859_Chip-Seq_STOMACH_Mouse1.23792414
74REST_21632747_ChIP-Seq_MESCs_Mouse1.23747945
75* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.23629585
76TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.23521560
77SOX9_26525672_Chip-Seq_HEART_Mouse1.22034264
78RUNX2_22187159_ChIP-Seq_PCA_Human1.21939872
79PCGF2_27294783_Chip-Seq_NPCs_Mouse1.21771117
80SUZ12_27294783_Chip-Seq_NPCs_Mouse1.20576996
81TCF4_23295773_ChIP-Seq_U87_Human1.19366224
82IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.18569569
83CBP_20019798_ChIP-Seq_JUKART_Human1.18569569
84EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.17787005
85* SOX2_21211035_ChIP-Seq_LN229_Gbm1.15067157
86STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.14539763
87KLF5_20875108_ChIP-Seq_MESCs_Mouse1.14007559
88EZH2_27294783_Chip-Seq_NPCs_Mouse1.13992085
89TCF4_22108803_ChIP-Seq_LS180_Human1.13666994
90CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13660148
91TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.12926311
92TBX3_20139965_ChIP-Seq_MESCs_Mouse1.12654266
93TBX3_20139965_ChIP-Seq_ESCs_Mouse1.12135103
94JARID2_20064375_ChIP-Seq_MESCs_Mouse1.12074733
95TP53_18474530_ChIP-ChIP_U2OS_Human1.11688952
96FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.10660672
97TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09884855
98SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.09826509
99PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.09116884
100PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.08962186
101YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07906785
102PCGF2_27294783_Chip-Seq_ESCs_Mouse1.07629823
103HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.07267411
104WT1_19549856_ChIP-ChIP_CCG9911_Human1.06771312
105BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.06503383
106TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04667535
107* RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.04647566
108GATA4_25053715_ChIP-Seq_YYC3_Human1.04453665
109ELK1_19687146_ChIP-ChIP_HELA_Human1.04220485
110* TAL1_26923725_Chip-Seq_HPCs_Mouse1.04023880
111P53_22387025_ChIP-Seq_ESCs_Mouse1.03980383
112THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.03606732
113SOX2_16153702_ChIP-ChIP_HESCs_Human1.03087637
114FLI1_27457419_Chip-Seq_LIVER_Mouse1.02700966
115NFE2_27457419_Chip-Seq_LIVER_Mouse1.02080742
116KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.01864903
117PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.01377156
118SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.01073220
119JUN_21703547_ChIP-Seq_K562_Human0.99859610
120EZH2_18974828_ChIP-Seq_MESCs_Mouse0.98399164
121RXRA_24833708_ChIP-Seq_LIVER_Mouse0.96262108
122ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.92726354
123RARG_19884340_ChIP-ChIP_MEFs_Mouse0.91475316
124SALL4_18804426_ChIP-ChIP_XEN_Mouse0.90521249
125NRF2_20460467_ChIP-Seq_MEFs_Mouse0.88148187
126NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.88148187
127ESR2_21235772_ChIP-Seq_MCF-7_Human0.87974404
128CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.87743010
129ZNF263_19887448_ChIP-Seq_K562_Human0.87584588
130AUTS2_25519132_ChIP-Seq_293T-REX_Human0.87556461
131IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.84545097
132ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.83272019
133AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.82771917
134ESR1_20079471_ChIP-ChIP_T-47D_Human0.82721906
135CDX2_20551321_ChIP-Seq_CACO-2_Human0.80528520
136* PPAR_26484153_Chip-Seq_NCI-H1993_Human0.79471382
137ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.79108529
138ESR1_15608294_ChIP-ChIP_MCF-7_Human0.76978240
139* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.75973627
140FOXO3_23340844_ChIP-Seq_DLD1_Human0.74977211
141ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.73482624
142PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.72710130
143SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.70813362
144PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.67100545
145PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.66229601
146TRIM28_21343339_ChIP-Seq_HEK293_Human0.65272651
147KAP1_22055183_ChIP-Seq_ESCs_Mouse0.64184961
148SOX2_20726797_ChIP-Seq_SW620_Human0.63216332
149* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.63118649
150* FOXA1_25552417_ChIP-Seq_VCAP_Human0.63018927
151CEBPB_22108803_ChIP-Seq_LS180_Human0.61873091
152BCAT_22108803_ChIP-Seq_LS180_Human0.60399258
153ESR1_21235772_ChIP-Seq_MCF-7_Human0.59597716
154RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.58883946
155NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.58065934
156CBP_21632823_ChIP-Seq_H3396_Human0.57645008
157RARA_24833708_ChIP-Seq_LIVER_Mouse0.57492575
158RAD21_21589869_ChIP-Seq_MESCs_Mouse0.57177392
159PIAS1_25552417_ChIP-Seq_VCAP_Human0.57116542
160NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.56592010
161EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.56127150
162PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.55835232
163GATA6_25053715_ChIP-Seq_YYC3_Human0.53706304
164SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.53448029
165GATA1_19941826_ChIP-Seq_K562_Human0.53141113
166FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.52659358
167GATA2_19941826_ChIP-Seq_K562_Human0.52347573
168FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.52101192
169EGR1_19032775_ChIP-ChIP_M12_Human0.51984101
170STAT1_17558387_ChIP-Seq_HELA_Human0.51855324
171IRF8_22096565_ChIP-ChIP_GC-B_Human0.50198748
172BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.50127930
173TBX20_22080862_ChIP-Seq_HEART_Mouse0.49477869
174TBX20_22328084_ChIP-Seq_HEART_Mouse0.49477869
175CDX2_22108803_ChIP-Seq_LS180_Human0.49152802
176* FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.48870777
177ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.47556880
178MYC_19915707_ChIP-ChIP_AK7_Human0.47556536
179RARB_24833708_ChIP-Seq_LIVER_Mouse0.47377502
180* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.47143756
181AR_20517297_ChIP-Seq_VCAP_Human0.46840157
182GATA3_24758297_ChIP-Seq_MCF-7_Human0.46679230
183CDX2_19796622_ChIP-Seq_MESCs_Mouse0.46500102
184TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.46340561
185* ESET_19884257_ChIP-Seq_ESCs_Mouse0.46259650
186GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.43556417
187CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.43331065
188TP63_17297297_ChIP-ChIP_HaCaT_Human0.43316432
189P53_21459846_ChIP-Seq_SAOS-2_Human0.43117910
190CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.40756378
191PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.40313810
192EP300_21415370_ChIP-Seq_HL-1_Mouse0.39773554
193ERG_21242973_ChIP-ChIP_JURKAT_Human0.39364718

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.88779277
2MP0005360_urolithiasis7.42963860
3MP0005085_abnormal_gallbladder_physiolo6.10372615
4MP0005365_abnormal_bile_salt5.98387099
5MP0003136_yellow_coat_color5.72165241
6MP0008875_abnormal_xenobiotic_pharmacok4.89940780
7MP0005171_absent_coat_pigmentation4.04889374
8MP0003806_abnormal_nucleotide_metabolis3.96787850
9MP0003252_abnormal_bile_duct3.84186183
10MP0010329_abnormal_lipoprotein_level3.77933517
11MP0003880_abnormal_central_pattern3.59250228
12MP0002736_abnormal_nociception_after3.19180240
13MP0009840_abnormal_foam_cell3.06564576
14MP0001666_abnormal_nutrient_absorption2.83244624
15MP0005083_abnormal_biliary_tract2.79695847
16MP0002638_abnormal_pupillary_reflex2.76428086
17MP0005332_abnormal_amino_acid2.66680763
18MP0003195_calcinosis2.44210194
19MP0001984_abnormal_olfaction2.43612853
20MP0000778_abnormal_nervous_system2.34821313
21MP0003191_abnormal_cellular_cholesterol2.30255085
22MP0002118_abnormal_lipid_homeostasis2.27442522
23MP0000609_abnormal_liver_physiology2.17351138
24MP0001529_abnormal_vocalization2.15182114
25MP0005423_abnormal_somatic_nervous2.14299225
26MP0001968_abnormal_touch/_nociception2.04132937
27MP0004019_abnormal_vitamin_homeostasis2.01227138
28MP0001486_abnormal_startle_reflex1.93939393
29MP0005253_abnormal_eye_physiology1.91802607
30MP0005670_abnormal_white_adipose1.83015104
31MP0005319_abnormal_enzyme/_coenzyme1.77390162
32MP0002138_abnormal_hepatobiliary_system1.76696925
33MP0003868_abnormal_feces_composition1.75536166
34MP0004859_abnormal_synaptic_plasticity1.73310471
35MP0002938_white_spotting1.67533195
36MP0000372_irregular_coat_pigmentation1.65944951
37MP0001764_abnormal_homeostasis1.64200236
38MP0005551_abnormal_eye_electrophysiolog1.63622065
39MP0002734_abnormal_mechanical_nocicepti1.58578994
40MP0002272_abnormal_nervous_system1.57804446
41MP0009697_abnormal_copulation1.56358861
42MP0002751_abnormal_autonomic_nervous1.56011404
43MP0005584_abnormal_enzyme/coenzyme_acti1.55094210
44MP0004270_analgesia1.53346051
45MP0005187_abnormal_penis_morphology1.53241767
46MP0002102_abnormal_ear_morphology1.47311559
47MP0002095_abnormal_skin_pigmentation1.46133795
48MP0000955_abnormal_spinal_cord1.45698477
49MP0006276_abnormal_autonomic_nervous1.45272857
50MP0005451_abnormal_body_composition1.43950478
51MP0002653_abnormal_ependyma_morphology1.43064980
52MP0003705_abnormal_hypodermis_morpholog1.39178169
53MP0003635_abnormal_synaptic_transmissio1.38858833
54MP0004130_abnormal_muscle_cell1.37820480
55MP0002254_reproductive_system_inflammat1.35674884
56MP0002557_abnormal_social/conspecific_i1.33801072
57MP0004885_abnormal_endolymph1.31795592
58MP0006072_abnormal_retinal_apoptosis1.31369225
59MP0002876_abnormal_thyroid_physiology1.29068132
60MP0000647_abnormal_sebaceous_gland1.28919398
61MP0003186_abnormal_redox_activity1.28905987
62MP0002909_abnormal_adrenal_gland1.27648355
63MP0001986_abnormal_taste_sensitivity1.27049512
64MP0002572_abnormal_emotion/affect_behav1.27021136
65MP0002063_abnormal_learning/memory/cond1.25444660
66MP0009745_abnormal_behavioral_response1.25263511
67MP0000026_abnormal_inner_ear1.24326640
68MP0009643_abnormal_urine_homeostasis1.24008612
69MP0001485_abnormal_pinna_reflex1.23132781
70MP0002233_abnormal_nose_morphology1.21263008
71MP0005666_abnormal_adipose_tissue1.19520653
72MP0000569_abnormal_digit_pigmentation1.19281501
73MP0003011_delayed_dark_adaptation1.19214727
74MP0002234_abnormal_pharynx_morphology1.18887543
75MP0001502_abnormal_circadian_rhythm1.16666380
76MP0005391_vision/eye_phenotype1.15864883
77MP0002735_abnormal_chemical_nociception1.15453351
78MP0002971_abnormal_brown_adipose1.15445721
79MP0003755_abnormal_palate_morphology1.14298231
80MP0001970_abnormal_pain_threshold1.14204099
81MP0002064_seizures1.14156578
82MP0000598_abnormal_liver_morphology1.11154316
83MP0001324_abnormal_eye_pigmentation1.10358254
84MP0008789_abnormal_olfactory_epithelium1.10239535
85MP0002184_abnormal_innervation1.09968867
86MP0002882_abnormal_neuron_morphology1.09560512
87MP0005174_abnormal_tail_pigmentation1.08988723
88MP0005647_abnormal_sex_gland1.08301291
89MP0001177_atelectasis1.07699878
90MP0002837_dystrophic_cardiac_calcinosis1.06616877
91MP0003656_abnormal_erythrocyte_physiolo1.05982930
92MP0002752_abnormal_somatic_nervous1.05262198
93MP0002282_abnormal_trachea_morphology1.04969936
94MP0002090_abnormal_vision1.04759419
95MP0005195_abnormal_posterior_eye1.02675211
96MP0002067_abnormal_sensory_capabilities1.02097023
97MP0001293_anophthalmia1.01287037
98MP0005334_abnormal_fat_pad1.01207440
99MP0003122_maternal_imprinting1.00735275
100MP0000604_amyloidosis1.00735119
101MP0002152_abnormal_brain_morphology1.00234240
102MP0001661_extended_life_span1.00164571
103MP0005646_abnormal_pituitary_gland1.00109568
104MP0004142_abnormal_muscle_tone0.99404236
105MP0000049_abnormal_middle_ear0.98057316
106MP0003385_abnormal_body_wall0.97109715
107MP0005386_behavior/neurological_phenoty0.96507371
108MP0004924_abnormal_behavior0.96507371
109MP0000631_abnormal_neuroendocrine_gland0.96345830
110MP0000534_abnormal_ureter_morphology0.94121621
111MP0003690_abnormal_glial_cell0.92469230
112* MP0009763_increased_sensitivity_to0.92451917
113MP0009764_decreased_sensitivity_to0.92148336
114MP0003861_abnormal_nervous_system0.91497744
115MP0003632_abnormal_nervous_system0.91021389
116MP0003634_abnormal_glial_cell0.90729485
117MP0005394_taste/olfaction_phenotype0.89828542
118MP0005499_abnormal_olfactory_system0.89828542
119MP0002078_abnormal_glucose_homeostasis0.89301301
120MP0002697_abnormal_eye_size0.88946666
121MP0002733_abnormal_thermal_nociception0.88786245
122MP0001963_abnormal_hearing_physiology0.88028279
123MP0006036_abnormal_mitochondrial_physio0.86721011
124MP0003937_abnormal_limbs/digits/tail_de0.85194643
125MP0004133_heterotaxia0.84413591
126MP0003121_genomic_imprinting0.84003437
127MP0005084_abnormal_gallbladder_morpholo0.83150305
128MP0005535_abnormal_body_temperature0.83100546
129MP0010368_abnormal_lymphatic_system0.81827241
130MP0009642_abnormal_blood_homeostasis0.81424406
131MP0001286_abnormal_eye_development0.81424386
132MP0005448_abnormal_energy_balance0.81123820
133MP0004811_abnormal_neuron_physiology0.80960178
134MP0001905_abnormal_dopamine_level0.79937266
135MP0005376_homeostasis/metabolism_phenot0.78564035
136MP0009046_muscle_twitch0.77509639
137MP0005636_abnormal_mineral_homeostasis0.77502536
138MP0005408_hypopigmentation0.77497677
139MP0004185_abnormal_adipocyte_glucose0.76531956
140MP0003119_abnormal_digestive_system0.74359280
141MP0008469_abnormal_protein_level0.73930934
142MP0003935_abnormal_craniofacial_develop0.73495996
143MP0009115_abnormal_fat_cell0.72364370
144MP0003942_abnormal_urinary_system0.70376046
145MP0004742_abnormal_vestibular_system0.70353432
146MP0000516_abnormal_urinary_system0.69725442
147MP0005375_adipose_tissue_phenotype0.69049224
148MP0005266_abnormal_metabolism0.68141251
149MP0001756_abnormal_urination0.64863489
150* MP0009765_abnormal_xenobiotic_induced0.62428170
151MP0005220_abnormal_exocrine_pancreas0.61922472
152MP0003329_amyloid_beta_deposits0.60055228
153MP0009053_abnormal_anal_canal0.59900740
154MP0002970_abnormal_white_adipose0.55829105
155MP0000639_abnormal_adrenal_gland0.51538450
156MP0010234_abnormal_vibrissa_follicle0.48409473
157MP0003953_abnormal_hormone_level0.47383347
158MP0003959_abnormal_lean_body0.47371106
159MP0009384_cardiac_valve_regurgitation0.47069314
160MP0002796_impaired_skin_barrier0.46132885
161MP0006035_abnormal_mitochondrial_morpho0.45708582
162MP0008438_abnormal_cutaneous_collagen0.45353790
163MP0001881_abnormal_mammary_gland0.44260203
164MP0005395_other_phenotype0.43704372
165MP0003638_abnormal_response/metabolism_0.43226557
166MP0002136_abnormal_kidney_physiology0.43180374
167MP0005248_abnormal_Harderian_gland0.42480094
168MP0008872_abnormal_physiological_respon0.42374655
169MP0004147_increased_porphyrin_level0.41890123
170MP0000230_abnormal_systemic_arterial0.41650298
171MP0002928_abnormal_bile_duct0.40428969
172MP0002822_catalepsy0.40382825
173MP0009672_abnormal_birth_weight0.40153654
174MP0003724_increased_susceptibility_to0.39665307
175MP0008874_decreased_physiological_sensi0.38130723
176MP0002168_other_aberrant_phenotype0.37094061
177MP0002060_abnormal_skin_morphology0.36187198
178MP0005167_abnormal_blood-brain_barrier0.35605753
179MP0000249_abnormal_blood_vessel0.35369375
180MP0000427_abnormal_hair_cycle0.35114446
181MP0004782_abnormal_surfactant_physiolog0.34486357
182MP0004264_abnormal_extraembryonic_tissu0.33460487
183MP0005330_cardiomyopathy0.32278535
184MP0003075_altered_response_to0.31838330
185MP0005164_abnormal_response_to0.31658838
186MP0005452_abnormal_adipose_tissue0.30746528
187MP0004883_abnormal_blood_vessel0.30679852
188MP0005464_abnormal_platelet_physiology0.30095884
189MP0000003_abnormal_adipose_tissue0.29861679

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.01218805
2Intrahepatic cholestasis (HP:0001406)6.92238281
3Abnormality of aromatic amino acid family metabolism (HP:0004338)6.83631244
4Hypobetalipoproteinemia (HP:0003563)6.37034171
5Xanthomatosis (HP:0000991)6.21374693
6Abnormality of monocarboxylic acid metabolism (HP:0010996)6.20389648
7Prolonged partial thromboplastin time (HP:0003645)5.90466304
8Hyperlipoproteinemia (HP:0010980)5.42890076
9Complement deficiency (HP:0004431)5.03732300
10Hypolipoproteinemia (HP:0010981)4.87729995
11Hyperammonemia (HP:0001987)4.74000180
12Epidermoid cyst (HP:0200040)4.73322774
13Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.55494114
14Hyperglycinuria (HP:0003108)4.36508329
15Hyperglycinemia (HP:0002154)4.34551983
16Ketosis (HP:0001946)4.32008903
17Abnormality of glutamine family amino acid metabolism (HP:0010902)4.30945976
18Hypoalphalipoproteinemia (HP:0003233)4.26192354
19Abnormality of glycine metabolism (HP:0010895)4.25303963
20Abnormality of serine family amino acid metabolism (HP:0010894)4.25303963
21Joint hemorrhage (HP:0005261)4.20353262
22Hypoglycemic coma (HP:0001325)4.20043592
23Abnormality of the common coagulation pathway (HP:0010990)4.13664713
24Fat malabsorption (HP:0002630)4.06179148
25Abnormality of aspartate family amino acid metabolism (HP:0010899)4.02482116
26Abnormality of methionine metabolism (HP:0010901)3.99842166
27Abnormality of sulfur amino acid metabolism (HP:0004339)3.98842805
28Hypercholesterolemia (HP:0003124)3.81516857
29Conjugated hyperbilirubinemia (HP:0002908)3.75226834
30Abnormality of complement system (HP:0005339)3.59746113
31Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.58861437
32Abnormality of fatty-acid metabolism (HP:0004359)3.56514368
33Gait imbalance (HP:0002141)3.52192243
34Split foot (HP:0001839)3.48078652
35Medial flaring of the eyebrow (HP:0010747)3.47973063
36Abnormality of the intrinsic pathway (HP:0010989)3.44350922
37Hemiparesis (HP:0001269)3.40528370
38Congenital primary aphakia (HP:0007707)3.31293393
39Abnormality of pyrimidine metabolism (HP:0004353)3.29910939
40True hermaphroditism (HP:0010459)3.27423324
41Ketoacidosis (HP:0001993)3.25025478
42Nephrogenic diabetes insipidus (HP:0009806)3.23837112
43Hyperbilirubinemia (HP:0002904)3.20537361
44Focal motor seizures (HP:0011153)3.06220497
45Abnormality of serum amino acid levels (HP:0003112)3.01146030
46Patchy hypopigmentation of hair (HP:0011365)2.99781897
47Skin nodule (HP:0200036)2.97568460
48White forelock (HP:0002211)2.97292984
49Hyperventilation (HP:0002883)2.96657736
50Abnormality of the labia minora (HP:0012880)2.93265419
51Delayed CNS myelination (HP:0002188)2.91787143
52Acanthocytosis (HP:0001927)2.91323722
53Abnormality of nucleobase metabolism (HP:0010932)2.91020775
54Hepatocellular carcinoma (HP:0001402)2.89664132
55Steatorrhea (HP:0002570)2.87247523
56Myocardial infarction (HP:0001658)2.84124010
57Metabolic acidosis (HP:0001942)2.82570504
58Abnormality of dicarboxylic acid metabolism (HP:0010995)2.80642227
59Dicarboxylic aciduria (HP:0003215)2.80642227
60Genital tract atresia (HP:0001827)2.76628328
61Vaginal atresia (HP:0000148)2.75249162
62Abnormality of purine metabolism (HP:0004352)2.71575694
63Lethargy (HP:0001254)2.65511042
64Hypoglycemic seizures (HP:0002173)2.60946514
65Spontaneous abortion (HP:0005268)2.59806923
66Hypochromic microcytic anemia (HP:0004840)2.59303546
67Broad foot (HP:0001769)2.54867370
68Renal hypoplasia (HP:0000089)2.54264208
69Cerebral edema (HP:0002181)2.52560109
70Intestinal atresia (HP:0011100)2.51778247
71Blue irides (HP:0000635)2.51066826
72Action tremor (HP:0002345)2.49448360
73Abnormality of the ischium (HP:0003174)2.48371476
74Abnormal gallbladder morphology (HP:0012437)2.47338471
75Congenital sensorineural hearing impairment (HP:0008527)2.45355203
76Systemic lupus erythematosus (HP:0002725)2.44200218
77Pancreatic fibrosis (HP:0100732)2.44089162
78Chronic hepatic failure (HP:0100626)2.43649252
79Oligodactyly (hands) (HP:0001180)2.43236729
80Cholelithiasis (HP:0001081)2.41022033
81Malnutrition (HP:0004395)2.39596938
82Spastic diplegia (HP:0001264)2.38621861
83Poor coordination (HP:0002370)2.35298939
84Vascular calcification (HP:0004934)2.34566629
85Occipital encephalocele (HP:0002085)2.32531425
86Hemiplegia (HP:0002301)2.31002061
87Postaxial hand polydactyly (HP:0001162)2.30657813
88Pancreatitis (HP:0001733)2.29008651
89Esophageal varix (HP:0002040)2.26481583
90Hydroxyprolinuria (HP:0003080)2.25843568
91Abnormality of proline metabolism (HP:0010907)2.25843568
92Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.25227839
93Glomerulonephritis (HP:0000099)2.24782040
94Cholecystitis (HP:0001082)2.24781208
95Abnormal gallbladder physiology (HP:0012438)2.24781208
96Abnormality of midbrain morphology (HP:0002418)2.24699114
97Molar tooth sign on MRI (HP:0002419)2.24699114
98Amyloidosis (HP:0011034)2.22432665
99Retinal dysplasia (HP:0007973)2.22076448
100Hemorrhage of the eye (HP:0011885)2.21939111
101Hypertriglyceridemia (HP:0002155)2.20410568
102Irritability (HP:0000737)2.20404789
103Megalencephaly (HP:0001355)2.19569045
104Gastrointestinal atresia (HP:0002589)2.18208492
105Pancreatic cysts (HP:0001737)2.18013379
106Polyphagia (HP:0002591)2.17871009
107Brushfield spots (HP:0001088)2.15737179
108Pheochromocytoma (HP:0002666)2.15343128
109Hyperinsulinemic hypoglycemia (HP:0000825)2.14690711
110Gout (HP:0001997)2.14609736
111Cardiovascular calcification (HP:0011915)2.13821065
112Mitral stenosis (HP:0001718)2.13031425
113Vomiting (HP:0002013)2.10842113
114Heterochromia iridis (HP:0001100)2.10563797
115Generalized aminoaciduria (HP:0002909)2.09387313
116Large for gestational age (HP:0001520)2.08373660
117Poikilocytosis (HP:0004447)2.08065772
118Septo-optic dysplasia (HP:0100842)2.05472103
119Cortical dysplasia (HP:0002539)2.05021850
120Enlarged kidneys (HP:0000105)2.04802827
121Nephronophthisis (HP:0000090)2.03790789
122Abnormal cartilage morphology (HP:0002763)2.02737801
123Late onset (HP:0003584)2.02643839
124Generalized tonic-clonic seizures (HP:0002069)2.02345479
125Exercise-induced muscle cramps (HP:0003710)2.02297744
126Cutaneous finger syndactyly (HP:0010554)2.01376328
127Optic nerve hypoplasia (HP:0000609)2.00985957
128Aplasia/Hypoplasia of the fovea (HP:0008060)2.00450108
129Hypoplasia of the fovea (HP:0007750)2.00450108
130Neonatal onset (HP:0003623)2.00418504
131Esophageal atresia (HP:0002032)2.00171025
132Hyperglycemia (HP:0003074)1.99399336
133Methylmalonic acidemia (HP:0002912)1.99022493
134Specific learning disability (HP:0001328)1.97761721
135Abnormality of the diencephalon (HP:0010662)1.97593765
136Hemivertebrae (HP:0002937)1.95119897
137Absent speech (HP:0001344)1.95111694
138Sensorimotor neuropathy (HP:0007141)1.94547495
139Alacrima (HP:0000522)1.93608560
140Abnormality of the gallbladder (HP:0005264)1.93330474
141Renal cortical cysts (HP:0000803)1.91946546
142Long clavicles (HP:0000890)1.91651232
143Aplasia/Hypoplasia of the tongue (HP:0010295)1.91641055
144Abnormal biliary tract physiology (HP:0012439)1.90425301
145Bile duct proliferation (HP:0001408)1.90425301
146Lissencephaly (HP:0001339)1.89885981
147Oligodactyly (HP:0012165)1.88915904
148Gingival bleeding (HP:0000225)1.88857608
149Albinism (HP:0001022)1.86900280
150Opisthotonus (HP:0002179)1.86364328
151Ileus (HP:0002595)1.85883492
152Aplasia/Hypoplasia of the tibia (HP:0005772)1.85614683
153Abnormality of vitamin metabolism (HP:0100508)1.85391240
154Type II lissencephaly (HP:0007260)1.84523444
155Hypoplastic ischia (HP:0003175)1.84398266
156Postaxial foot polydactyly (HP:0001830)1.83902653
157Focal seizures (HP:0007359)1.83713194
158Abnormality of the 4th metacarpal (HP:0010012)1.83537667
159Pigmentary retinal degeneration (HP:0001146)1.83192840
160Hypopigmentation of the fundus (HP:0007894)1.82919666
161Elevated hepatic transaminases (HP:0002910)1.82435146
162Nausea (HP:0002018)1.81873056
163Glycosuria (HP:0003076)1.81763546
164Abnormality of urine glucose concentration (HP:0011016)1.81763546
165Drooling (HP:0002307)1.81725968
166Menorrhagia (HP:0000132)1.80307666
167Neuroendocrine neoplasm (HP:0100634)1.80019614
168Short 4th metacarpal (HP:0010044)1.79540474
169Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.79540474
170Proximal tubulopathy (HP:0000114)1.78784482
171Thrombophlebitis (HP:0004418)1.78557097
172Abnormality of iron homeostasis (HP:0011031)1.78074880
173Hepatoblastoma (HP:0002884)1.78015679
174Abnormality of transition element cation homeostasis (HP:0011030)1.77822196
175Tubulointerstitial nephritis (HP:0001970)1.77277409
176Astigmatism (HP:0000483)1.76403458
177Short foot (HP:0001773)1.74909375
178Bifid scrotum (HP:0000048)1.74299115
179Gonadotropin excess (HP:0000837)1.73196762
180Cystic liver disease (HP:0006706)1.73103787
181Anencephaly (HP:0002323)1.71944837
182Decreased testicular size (HP:0008734)1.71716960
183Decreased lacrimation (HP:0000633)1.71374385
184Narrow forehead (HP:0000341)1.70540110
185Vitreoretinal degeneration (HP:0000655)1.70415080
186Tented upper lip vermilion (HP:0010804)1.70006985
187Short tibia (HP:0005736)1.68758418
188Abnormality of the fovea (HP:0000493)1.68721637
189Chorioretinal atrophy (HP:0000533)1.67722025
190Coronal craniosynostosis (HP:0004440)1.67222942
191Micropenis (HP:0000054)1.66598761
192Abnormal finger flexion creases (HP:0006143)1.66539475
193Anophthalmia (HP:0000528)1.65908672
194Sclerocornea (HP:0000647)1.65515995

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.50684747
2SIK14.66691475
3CASK4.10494561
4MARK13.84752648
5FGFR43.62208758
6INSRR3.21830997
7EPHA43.20126343
8ERN13.09292760
9TRIM282.99980158
10FRK2.91329882
11PNCK2.90027287
12MST1R2.75323012
13CAMK1D2.44231868
14TRIB32.43443407
15BCR2.38890845
16TNIK2.30498703
17ERBB42.29837337
18WNK32.27492745
19MKNK22.22404317
20PKN22.18483636
21NTRK22.08631508
22MAPK132.08593002
23LATS12.05052902
24LMTK22.03738062
25FGFR22.01836445
26MAP4K21.97268163
27MKNK11.91488770
28TAOK31.88568941
29MAP3K41.80206828
30WEE11.71331178
31MAP2K41.65654118
32CCNB11.62227531
33PRKAA21.61560404
34MET1.60691802
35TSSK61.58395552
36NEK11.57785001
37PTK61.55981005
38DYRK21.55784844
39CAMK1G1.53764540
40MAPK111.53042724
41PIK3CG1.52778048
42FLT31.51060261
43ERBB31.50464100
44MAP2K71.43897150
45PLK21.35316350
46CSNK1G31.29034934
47RIPK11.28153775
48TYK21.25064278
49NEK91.24641954
50EPHB11.21935431
51DAPK21.14823081
52MAP3K71.10640584
53BUB11.10420723
54PRKCG1.08553409
55PDK31.08436947
56PDK41.08436947
57PIK3CA1.07300273
58ABL21.07073170
59JAK21.04700115
60DYRK1A1.03158021
61BMPR1B1.00878704
62ERBB20.98983793
63NTRK30.96951465
64TIE10.95627705
65KDR0.95203398
66PINK10.94673067
67PRKD30.94445748
68PAK60.94129589
69CDK60.93726991
70BRSK20.90335713
71PRKAA10.89348875
72JAK10.89093788
73FGFR30.87995474
74ADRBK20.87153832
75STK160.85779089
76UHMK10.84482505
77MINK10.84391508
78PLK30.82902395
79PRKACG0.81891451
80MAP3K100.80176557
81PRKCE0.79040100
82GSK3A0.77460568
83BRSK10.77170450
84PRKCZ0.75729165
85ROCK20.75370548
86EPHA30.72890795
87CDK30.72875652
88MYLK0.72291627
89NTRK10.70531161
90MAPK40.70324810
91SRPK10.70303330
92PDK20.69477880
93PDPK10.68253666
94STK38L0.67532508
95MAPKAPK50.66337164
96KSR10.65118980
97DYRK1B0.64629411
98CAMK2G0.64160602
99GRK60.64121231
100VRK10.63561509
101TBK10.62203026
102MAP3K30.62118342
103EIF2AK30.61048984
104CSNK1G10.60606067
105PTK20.59443467
106MAP2K10.59017245
107MAPK120.58857173
108RET0.58671316
109YES10.58475648
110PRKG20.58382879
111MAP2K30.57787022
112ICK0.56988763
113NUAK10.56849033
114CSK0.56598706
115IGF1R0.56529427
116MAP3K140.55809202
117CAMK2A0.55312893
118CAMK2B0.55077301
119PLK40.52534412
120OBSCN0.52023600
121CDK50.51907024
122ROCK10.51500277
123TGFBR20.51168806
124PDGFRA0.51084206
125DMPK0.50748613
126PHKG20.50003680
127PHKG10.50003680
128SGK20.48495711
129CDK180.48414062
130EPHB20.48235706
131PRKCQ0.47606479
132GRK10.46911163
133CSNK1D0.46897911
134MTOR0.46503986
135SGK30.45487806
136IRAK30.45081581
137PAK30.44249741
138TTK0.44097716
139PRKACA0.43845968
140PDK10.41966040
141MAPK150.41957502
142PRKDC0.41349655
143PLK10.40382816
144PKN10.40003818
145PRKACB0.39921250
146GRK70.39742649
147CAMK2D0.39322235
148PBK0.39022265
149CDK150.38926462
150FGFR10.38691235
151STK30.38443022
152RPS6KA50.38267555
153FER0.38024268
154LIMK10.37659827
155MAPK70.37593239
156MAP3K20.37341342
157MAP2K20.36175057
158CDK11A0.35315057
159CSF1R0.34942811
160PRKD10.33980029
161STK390.33933590
162MAP2K60.33811470
163CDK40.33113117
164SGK4940.32579030
165SGK2230.32579030
166BMX0.31616322
167CSNK1G20.28397571
168CSNK1A1L0.27385571
169AKT30.25966114

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.03393187
2Nitrogen metabolism_Homo sapiens_hsa009103.76832173
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.17751347
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.05226012
5Arginine biosynthesis_Homo sapiens_hsa002202.98008461
6Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.68386492
7Fatty acid degradation_Homo sapiens_hsa000712.62058296
8Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.58376061
9Tryptophan metabolism_Homo sapiens_hsa003802.57415671
10Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.57072253
11Complement and coagulation cascades_Homo sapiens_hsa046102.44213015
12Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.37710919
13Propanoate metabolism_Homo sapiens_hsa006402.32142838
14PPAR signaling pathway_Homo sapiens_hsa033202.15219125
15Butanoate metabolism_Homo sapiens_hsa006502.14682857
16Pentose and glucuronate interconversions_Homo sapiens_hsa000402.13222926
17Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.11721096
18Fatty acid metabolism_Homo sapiens_hsa012122.05540667
19Peroxisome_Homo sapiens_hsa041462.03138630
20Histidine metabolism_Homo sapiens_hsa003401.88588264
21Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.86312851
22Caffeine metabolism_Homo sapiens_hsa002321.86084062
23Chemical carcinogenesis_Homo sapiens_hsa052041.85607568
24beta-Alanine metabolism_Homo sapiens_hsa004101.79389412
25Steroid hormone biosynthesis_Homo sapiens_hsa001401.76280394
26Protein export_Homo sapiens_hsa030601.70212612
272-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.69876811
28Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.65395188
29Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.63380220
30Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.62487347
31Retinol metabolism_Homo sapiens_hsa008301.60126334
32Phenylalanine metabolism_Homo sapiens_hsa003601.58165462
33Staphylococcus aureus infection_Homo sapiens_hsa051501.57643514
34Drug metabolism - other enzymes_Homo sapiens_hsa009831.57339207
35Fat digestion and absorption_Homo sapiens_hsa049751.56763904
36Nicotine addiction_Homo sapiens_hsa050331.55923507
37Pyruvate metabolism_Homo sapiens_hsa006201.54072099
38Fatty acid elongation_Homo sapiens_hsa000621.49338957
39Bile secretion_Homo sapiens_hsa049761.48574191
40Sulfur metabolism_Homo sapiens_hsa009201.46612136
41Tyrosine metabolism_Homo sapiens_hsa003501.41538908
42Starch and sucrose metabolism_Homo sapiens_hsa005001.38605311
43Selenocompound metabolism_Homo sapiens_hsa004501.37224134
44Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.36549803
45Carbon metabolism_Homo sapiens_hsa012001.25563159
46Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.22632415
47ABC transporters_Homo sapiens_hsa020101.21462554
48Biosynthesis of amino acids_Homo sapiens_hsa012301.17001906
49Folate biosynthesis_Homo sapiens_hsa007901.15634156
50Steroid biosynthesis_Homo sapiens_hsa001001.14944537
51Cysteine and methionine metabolism_Homo sapiens_hsa002701.14142297
52Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.06621959
53Fatty acid biosynthesis_Homo sapiens_hsa000610.99860135
54Vitamin digestion and absorption_Homo sapiens_hsa049770.98580818
55Glycerolipid metabolism_Homo sapiens_hsa005610.97937640
56Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.96907796
57Arginine and proline metabolism_Homo sapiens_hsa003300.94926472
58GABAergic synapse_Homo sapiens_hsa047270.94674445
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.94118081
60Glutamatergic synapse_Homo sapiens_hsa047240.94050988
61Basal cell carcinoma_Homo sapiens_hsa052170.93347692
62Maturity onset diabetes of the young_Homo sapiens_hsa049500.92590694
63Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.91903561
64Vitamin B6 metabolism_Homo sapiens_hsa007500.91154626
65Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.90031471
66Cyanoamino acid metabolism_Homo sapiens_hsa004600.87439982
67Hedgehog signaling pathway_Homo sapiens_hsa043400.82878678
68Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.81380187
69Lysine degradation_Homo sapiens_hsa003100.80251032
70Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.78876401
71Sulfur relay system_Homo sapiens_hsa041220.74268840
72Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.73375742
73Cocaine addiction_Homo sapiens_hsa050300.70610357
74Circadian entrainment_Homo sapiens_hsa047130.68652193
75Glutathione metabolism_Homo sapiens_hsa004800.68375739
76Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.67814112
77Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.65310825
78Axon guidance_Homo sapiens_hsa043600.63596723
79Pentose phosphate pathway_Homo sapiens_hsa000300.60686436
80Parkinsons disease_Homo sapiens_hsa050120.60044937
81Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.59645533
82Morphine addiction_Homo sapiens_hsa050320.59643975
83Phototransduction_Homo sapiens_hsa047440.59136136
84Fanconi anemia pathway_Homo sapiens_hsa034600.56421621
85Amphetamine addiction_Homo sapiens_hsa050310.55699015
86Oxidative phosphorylation_Homo sapiens_hsa001900.55520016
87Dopaminergic synapse_Homo sapiens_hsa047280.54489271
88Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.51876609
89Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.51847152
90Taste transduction_Homo sapiens_hsa047420.51688365
91Basal transcription factors_Homo sapiens_hsa030220.49761691
92Serotonergic synapse_Homo sapiens_hsa047260.48828580
93RNA polymerase_Homo sapiens_hsa030200.48131276
94Insulin secretion_Homo sapiens_hsa049110.46544394
95Non-homologous end-joining_Homo sapiens_hsa034500.45802453
96One carbon pool by folate_Homo sapiens_hsa006700.45384290
97Metabolic pathways_Homo sapiens_hsa011000.45343708
98Hippo signaling pathway_Homo sapiens_hsa043900.43080494
99Circadian rhythm_Homo sapiens_hsa047100.42670129
100Adipocytokine signaling pathway_Homo sapiens_hsa049200.38876076
101alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.35038040
102Insulin resistance_Homo sapiens_hsa049310.33588616
103Huntingtons disease_Homo sapiens_hsa050160.33386572
104Galactose metabolism_Homo sapiens_hsa000520.33006377
105Cardiac muscle contraction_Homo sapiens_hsa042600.31917745
106Linoleic acid metabolism_Homo sapiens_hsa005910.29420777
107Fructose and mannose metabolism_Homo sapiens_hsa000510.29378006
108cAMP signaling pathway_Homo sapiens_hsa040240.29169881
109Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.28474192
110Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.26582100
111Glycerophospholipid metabolism_Homo sapiens_hsa005640.24610077
112AMPK signaling pathway_Homo sapiens_hsa041520.22387106
113Prion diseases_Homo sapiens_hsa050200.18597543
114Glucagon signaling pathway_Homo sapiens_hsa049220.15742712
115Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.07303105
116Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.03196410
117Renin-angiotensin system_Homo sapiens_hsa046140.03114157
118Insulin signaling pathway_Homo sapiens_hsa049100.01975908
119Regulation of autophagy_Homo sapiens_hsa04140-0.2370050
120Amoebiasis_Homo sapiens_hsa05146-0.2064335
121African trypanosomiasis_Homo sapiens_hsa05143-0.1858870
122Hepatitis C_Homo sapiens_hsa05160-0.1766986
123Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.1708954
124Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.1651361
125Type II diabetes mellitus_Homo sapiens_hsa04930-0.1633910
126Ether lipid metabolism_Homo sapiens_hsa00565-0.1627056
127Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1522637
128Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.1417406
129Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1184071
130Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1054548
131Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.0958584
132Mineral absorption_Homo sapiens_hsa04978-0.0888717
133Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.0624761
134Protein digestion and absorption_Homo sapiens_hsa04974-0.0595366
135Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0338838

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