BCO2

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 enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.66755798
2L-phenylalanine catabolic process (GO:0006559)6.60186095
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.60186095
4L-phenylalanine metabolic process (GO:0006558)6.38303305
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.38303305
6aromatic amino acid family catabolic process (GO:0009074)6.01203779
7high-density lipoprotein particle remodeling (GO:0034375)5.57127441
8regulation of cholesterol esterification (GO:0010872)5.53385944
9indole-containing compound catabolic process (GO:0042436)5.52678347
10indolalkylamine catabolic process (GO:0046218)5.52678347
11tryptophan catabolic process (GO:0006569)5.52678347
12urea cycle (GO:0000050)5.49091718
13urea metabolic process (GO:0019627)5.49091718
14cilium or flagellum-dependent cell motility (GO:0001539)5.39482758
15bile acid biosynthetic process (GO:0006699)5.35190646
16kynurenine metabolic process (GO:0070189)5.32541549
17epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)5.29784568
18tryptophan metabolic process (GO:0006568)5.19194195
19phospholipid efflux (GO:0033700)5.13654162
20alpha-linolenic acid metabolic process (GO:0036109)5.11977077
21reverse cholesterol transport (GO:0043691)5.05302959
22nitrogen cycle metabolic process (GO:0071941)5.04138791
23glyoxylate metabolic process (GO:0046487)5.01469751
24cysteine metabolic process (GO:0006534)4.97287074
25regulation of triglyceride catabolic process (GO:0010896)4.97226627
26complement activation, alternative pathway (GO:0006957)4.93321304
27plasma lipoprotein particle remodeling (GO:0034369)4.91628476
28protein-lipid complex remodeling (GO:0034368)4.91628476
29macromolecular complex remodeling (GO:0034367)4.91628476
30sulfur amino acid catabolic process (GO:0000098)4.88024251
31protein carboxylation (GO:0018214)4.86730031
32peptidyl-glutamic acid carboxylation (GO:0017187)4.86730031
33negative regulation of fibrinolysis (GO:0051918)4.85958369
34negative regulation of sterol transport (GO:0032372)4.77693289
35negative regulation of cholesterol transport (GO:0032375)4.77693289
36fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.71612057
37regulation of protein activation cascade (GO:2000257)4.69034444
38regulation of fibrinolysis (GO:0051917)4.65003273
39bile acid metabolic process (GO:0008206)4.62706432
40homocysteine metabolic process (GO:0050667)4.61504477
41cholesterol efflux (GO:0033344)4.53888627
42cilium movement (GO:0003341)4.46964437
43intestinal cholesterol absorption (GO:0030299)4.46437162
44plasma lipoprotein particle assembly (GO:0034377)4.45881367
45axonemal dynein complex assembly (GO:0070286)4.45235844
46epithelial cilium movement (GO:0003351)4.45045930
47serine family amino acid catabolic process (GO:0009071)4.41271393
48regulation of complement activation (GO:0030449)4.40824918
49aromatic amino acid family metabolic process (GO:0009072)4.35789689
50bile acid and bile salt transport (GO:0015721)4.35737129
51low-density lipoprotein particle remodeling (GO:0034374)4.34986929
52lysine catabolic process (GO:0006554)4.32771951
53lysine metabolic process (GO:0006553)4.32771951
54drug catabolic process (GO:0042737)4.27944239
55plasma lipoprotein particle clearance (GO:0034381)4.25616926
56acylglycerol homeostasis (GO:0055090)4.25529683
57triglyceride homeostasis (GO:0070328)4.25529683
58tyrosine metabolic process (GO:0006570)4.19328647
59ketone body metabolic process (GO:1902224)4.17178134
60amino-acid betaine metabolic process (GO:0006577)4.14304272
61very-low-density lipoprotein particle assembly (GO:0034379)4.10014235
62protein-lipid complex assembly (GO:0065005)4.09933730
63cellular glucuronidation (GO:0052695)4.09072818
64alpha-amino acid catabolic process (GO:1901606)4.08506950
65positive regulation of triglyceride lipase activity (GO:0061365)4.02984978
66positive regulation of lipoprotein lipase activity (GO:0051006)4.02984978
67amine catabolic process (GO:0009310)3.97635653
68cellular biogenic amine catabolic process (GO:0042402)3.97635653
69cellular modified amino acid catabolic process (GO:0042219)3.92014848
70cellular ketone body metabolic process (GO:0046950)3.90714513
71cholesterol homeostasis (GO:0042632)3.90035013
72plasma lipoprotein particle organization (GO:0071827)3.89523931
73glutamate metabolic process (GO:0006536)3.87808727
74flavonoid metabolic process (GO:0009812)3.87504574
75indolalkylamine metabolic process (GO:0006586)3.85619429
76coenzyme catabolic process (GO:0009109)3.85332944
77piRNA metabolic process (GO:0034587)3.85046797
78sterol homeostasis (GO:0055092)3.83919551
79cellular amino acid catabolic process (GO:0009063)3.79545631
80regulation of bile acid biosynthetic process (GO:0070857)3.79011020
81lipoprotein metabolic process (GO:0042157)3.76671855
82axoneme assembly (GO:0035082)3.74394982
83benzene-containing compound metabolic process (GO:0042537)3.72894719
84protein-lipid complex subunit organization (GO:0071825)3.72287073
85regulation of relaxation of muscle (GO:1901077)3.72212104
86arginine metabolic process (GO:0006525)3.71141220
87positive regulation of lipid catabolic process (GO:0050996)3.70818184
88phospholipid homeostasis (GO:0055091)3.70738144
89dicarboxylic acid biosynthetic process (GO:0043650)3.70619853
90intestinal absorption (GO:0050892)3.68955222
91complement activation, classical pathway (GO:0006958)3.68046220
92ethanol oxidation (GO:0006069)3.66589728
93glucuronate metabolic process (GO:0019585)3.65784790
94uronic acid metabolic process (GO:0006063)3.65784790
95complement activation (GO:0006956)3.65232657
96imidazole-containing compound metabolic process (GO:0052803)3.61618104
97glycine metabolic process (GO:0006544)3.61459517
98negative regulation of cytosolic calcium ion concentration (GO:0051481)3.59235280
99serine family amino acid metabolic process (GO:0009069)3.58876934
100short-chain fatty acid metabolic process (GO:0046459)3.53930680
101cofactor catabolic process (GO:0051187)3.52098830
102protein activation cascade (GO:0072376)3.51118779
103regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.50254061
104serine family amino acid biosynthetic process (GO:0009070)3.49959712
105regulation of cholesterol homeostasis (GO:2000188)3.49274508
106negative regulation of lipase activity (GO:0060192)3.49102792
107membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.48167027
108amino acid salvage (GO:0043102)3.47757230
109L-methionine salvage (GO:0071267)3.47757230
110L-methionine biosynthetic process (GO:0071265)3.47757230
111aldehyde catabolic process (GO:0046185)3.47033186
112regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.46885914
113exogenous drug catabolic process (GO:0042738)3.44941432
114fibrinolysis (GO:0042730)3.42323350
115positive regulation of fatty acid biosynthetic process (GO:0045723)3.38940969
116organic acid catabolic process (GO:0016054)3.37913530
117L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.37785635
118regulation of cilium movement (GO:0003352)3.37229887
119behavioral response to nicotine (GO:0035095)3.36346378
120oxidative demethylation (GO:0070989)3.35737231
121dopamine transport (GO:0015872)3.30567699
122regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.20038778
123regulation of actin filament-based movement (GO:1903115)3.16061461
124fatty acid transmembrane transport (GO:1902001)3.13906742
125regulation of cell communication by electrical coupling (GO:0010649)3.12343726
126regulation of glucokinase activity (GO:0033131)3.07426586
127regulation of hexokinase activity (GO:1903299)3.07426586
128phenol-containing compound catabolic process (GO:0019336)3.06062832
129epoxygenase P450 pathway (GO:0019373)3.03701739
130DNA methylation involved in gamete generation (GO:0043046)3.03628998
131positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.03348355
132photoreceptor cell maintenance (GO:0045494)3.01473243
133behavioral response to ethanol (GO:0048149)2.95555008
134auditory receptor cell stereocilium organization (GO:0060088)2.94444205
135sarcomere organization (GO:0045214)2.94076702
136detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.93796564
137thyroid hormone metabolic process (GO:0042403)2.92034001
138S-adenosylmethionine metabolic process (GO:0046500)2.87187292
139myofibril assembly (GO:0030239)2.85261710
140motile cilium assembly (GO:0044458)2.83559698
141methionine biosynthetic process (GO:0009086)2.79910695
142platelet dense granule organization (GO:0060155)2.77490127
143thyroid hormone generation (GO:0006590)2.77039177
144muscle filament sliding (GO:0030049)2.73135865
145actin-myosin filament sliding (GO:0033275)2.73135865
146regulation of action potential (GO:0098900)2.70739732
147cardiac myofibril assembly (GO:0055003)2.69958514
148regulation of sarcomere organization (GO:0060297)2.69618347
149regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.66080786
150cilium morphogenesis (GO:0060271)2.64832641
151cilium organization (GO:0044782)2.61321883
152omega-hydroxylase P450 pathway (GO:0097267)2.60492899
153aspartate family amino acid catabolic process (GO:0009068)2.59255213
154gamma-aminobutyric acid transport (GO:0015812)2.58716698
155membrane depolarization during action potential (GO:0086010)2.58131163
156cardiac muscle contraction (GO:0060048)2.57802485
157regulation of membrane repolarization (GO:0060306)2.57028250
158response to pheromone (GO:0019236)2.56646805
159cilium assembly (GO:0042384)2.54997159
160actin-mediated cell contraction (GO:0070252)2.53679772
161sarcoplasmic reticulum calcium ion transport (GO:0070296)2.53292146
162pyrimidine nucleobase catabolic process (GO:0006208)2.51672953
163carnitine shuttle (GO:0006853)2.51419946
164male meiosis (GO:0007140)2.51210830
165somite development (GO:0061053)2.50989026
166quaternary ammonium group transport (GO:0015697)2.50896024
167synapsis (GO:0007129)2.50585323
168indole-containing compound metabolic process (GO:0042430)2.49342390
169neuronal action potential propagation (GO:0019227)2.48341721
170cardiac muscle hypertrophy (GO:0003300)2.48156614
171positive regulation of heart rate (GO:0010460)2.47638332
172nonmotile primary cilium assembly (GO:0035058)2.47368205
173regulation of cardiac muscle cell contraction (GO:0086004)2.47316956
174synaptic transmission, cholinergic (GO:0007271)2.46552214
175ubiquinone biosynthetic process (GO:0006744)2.46496827
176carnitine transmembrane transport (GO:1902603)2.46403569
177detection of light stimulus involved in visual perception (GO:0050908)2.45964522
178detection of light stimulus involved in sensory perception (GO:0050962)2.45964522
179carnitine transport (GO:0015879)2.44296937
180amino-acid betaine transport (GO:0015838)2.44296937
181cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.44003546
182drug metabolic process (GO:0017144)2.43521997
183regulation of skeletal muscle contraction (GO:0014819)2.43418647
184regulation of microtubule-based movement (GO:0060632)2.42997445
185neuronal action potential (GO:0019228)2.41728543
186C4-dicarboxylate transport (GO:0015740)2.41334312

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse7.53543890
2PPARA_22158963_ChIP-Seq_LIVER_Mouse6.55619826
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.35259240
4* LXR_22158963_ChIP-Seq_LIVER_Mouse5.98704950
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.68121785
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.39146581
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse4.15277878
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.07360722
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.58039092
10CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.41621960
11EZH2_22144423_ChIP-Seq_EOC_Human3.29577340
12VDR_22108803_ChIP-Seq_LS180_Human3.00083886
13GBX2_23144817_ChIP-Seq_PC3_Human2.84375958
14ZNF274_21170338_ChIP-Seq_K562_Hela2.61379090
15POU3F2_20337985_ChIP-ChIP_501MEL_Human2.49832389
16ZFP57_27257070_Chip-Seq_ESCs_Mouse2.42216924
17BP1_19119308_ChIP-ChIP_Hs578T_Human2.33541145
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.29210093
19IRF8_22096565_ChIP-ChIP_GC-B_Human2.27677860
20TAF15_26573619_Chip-Seq_HEK293_Human2.11007155
21IGF1R_20145208_ChIP-Seq_DFB_Human2.06646667
22HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.06421464
23IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.04003941
24ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.5177479
25CTBP2_25329375_ChIP-Seq_LNCAP_Human1.94324171
26ER_23166858_ChIP-Seq_MCF-7_Human1.91081981
27CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.89491670
28FUS_26573619_Chip-Seq_HEK293_Human1.89361654
29CTBP1_25329375_ChIP-Seq_LNCAP_Human1.86813526
30PIAS1_25552417_ChIP-Seq_VCAP_Human1.86685866
31P300_19829295_ChIP-Seq_ESCs_Human1.86632042
32TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.83346019
33GATA1_22025678_ChIP-Seq_K562_Human1.81229628
34AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.81151841
35BCAT_22108803_ChIP-Seq_LS180_Human1.78176817
36PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.73458436
37RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.73204966
38SMAD4_21799915_ChIP-Seq_A2780_Human1.72020338
39FLI1_27457419_Chip-Seq_LIVER_Mouse1.69260469
40SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.66590889
41STAT3_23295773_ChIP-Seq_U87_Human1.66477677
42NR3C1_21868756_ChIP-Seq_MCF10A_Human1.65162854
43STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.62446708
44THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.59474216
45IRF8_21731497_ChIP-ChIP_J774_Mouse1.55054577
46FOXA2_19822575_ChIP-Seq_HepG2_Human1.54679298
47TCF4_23295773_ChIP-Seq_U87_Human1.54621145
48TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.54166538
49HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.53824787
50MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.53673034
51CLOCK_20551151_ChIP-Seq_293T_Human1.52756546
52PCGF2_27294783_Chip-Seq_ESCs_Mouse1.49798752
53AR_25329375_ChIP-Seq_VCAP_Human1.49774697
54TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.48106409
55Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.44710508
56* IRF8_27001747_Chip-Seq_BMDM_Mouse1.43930846
57UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.43474683
58SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41731479
59SALL1_21062744_ChIP-ChIP_HESCs_Human1.40466838
60SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.39973994
61TOP2B_26459242_ChIP-Seq_MCF-7_Human1.39591776
62AR_21572438_ChIP-Seq_LNCaP_Human1.38042810
63HNF4A_19822575_ChIP-Seq_HepG2_Human1.37694779
64EWS_26573619_Chip-Seq_HEK293_Human1.37651157
65SMAD3_21741376_ChIP-Seq_EPCs_Human1.34713414
66CDX2_19796622_ChIP-Seq_MESCs_Mouse1.33645545
67SOX2_19829295_ChIP-Seq_ESCs_Human1.33597542
68NANOG_19829295_ChIP-Seq_ESCs_Human1.33597542
69IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.32403727
70CBP_20019798_ChIP-Seq_JUKART_Human1.32403727
71TCF4_22108803_ChIP-Seq_LS180_Human1.31775002
72PCGF2_27294783_Chip-Seq_NPCs_Mouse1.30081942
73DROSHA_22980978_ChIP-Seq_HELA_Human1.29741039
74SUZ12_27294783_Chip-Seq_NPCs_Mouse1.29629818
75EP300_21415370_ChIP-Seq_HL-1_Mouse1.29501263
76EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.29395819
77SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.28956611
78PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.28664411
79NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.28465759
80SOX2_27498859_Chip-Seq_STOMACH_Mouse1.28224602
81EZH2_27294783_Chip-Seq_NPCs_Mouse1.26616106
82OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.26608027
83CDX2_20551321_ChIP-Seq_CACO-2_Human1.25282141
84KLF5_20875108_ChIP-Seq_MESCs_Mouse1.19180178
85NFE2_27457419_Chip-Seq_LIVER_Mouse1.18445367
86CBX2_27304074_Chip-Seq_ESCs_Mouse1.18238521
87RUNX2_22187159_ChIP-Seq_PCA_Human1.18215851
88REST_21632747_ChIP-Seq_MESCs_Mouse1.18120832
89E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.16807545
90TP53_16413492_ChIP-PET_HCT116_Human1.15819435
91RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.15376849
92SMAD4_21741376_ChIP-Seq_EPCs_Human1.14514139
93BMI1_23680149_ChIP-Seq_NPCS_Mouse1.14017190
94IRF1_19129219_ChIP-ChIP_H3396_Human1.13680613
95TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.13501817
96TP53_22573176_ChIP-Seq_HFKS_Human1.13409385
97POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.13366017
98TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13366017
99HTT_18923047_ChIP-ChIP_STHdh_Human1.13173016
100MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.12963416
101GATA4_25053715_ChIP-Seq_YYC3_Human1.11977852
102TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.11285721
103EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.10522962
104CDX2_22108803_ChIP-Seq_LS180_Human1.10496995
105SOX2_21211035_ChIP-Seq_LN229_Gbm1.09917036
106FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.09589404
107CRX_20693478_ChIP-Seq_RETINA_Mouse1.07730059
108CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.07656217
109NANOG_18555785_Chip-Seq_ESCs_Mouse1.07362744
110AHR_22903824_ChIP-Seq_MCF-7_Human1.06898439
111RNF2_27304074_Chip-Seq_NSC_Mouse1.06032722
112FLI1_21867929_ChIP-Seq_TH2_Mouse1.05981831
113NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.05942465
114GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.05896315
115PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.05636541
116PRDM14_20953172_ChIP-Seq_ESCs_Human1.05041124
117SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.04341757
118TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.04074885
119ESR2_21235772_ChIP-Seq_MCF-7_Human1.02190845
120P53_22387025_ChIP-Seq_ESCs_Mouse1.01483361
121TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.01348605
122STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.01344763
123NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.00751026
124RXRA_24833708_ChIP-Seq_LIVER_Mouse1.00181385
125FOXA1_21572438_ChIP-Seq_LNCaP_Human0.99751556
126ETV2_25802403_ChIP-Seq_MESCs_Mouse0.99279982
127E2F1_18555785_Chip-Seq_ESCs_Mouse0.98565273
128FOXM1_26456572_ChIP-Seq_MCF-7_Human0.98303303
129ARNT_22903824_ChIP-Seq_MCF-7_Human0.98299606
130FOXA1_27270436_Chip-Seq_PROSTATE_Human0.98181947
131FOXA1_25329375_ChIP-Seq_VCAP_Human0.98181947
132TBL1_22424771_ChIP-Seq_293T_Human0.98087802
133BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.95621280
134SALL4_18804426_ChIP-ChIP_XEN_Mouse0.89356454
135CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.88616475
136ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.87642903
137EGR1_19032775_ChIP-ChIP_M12_Human0.86982727
138RARG_19884340_ChIP-ChIP_MEFs_Mouse0.84317363
139IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.84224258
140ESR1_21235772_ChIP-Seq_MCF-7_Human0.82345554
141GATA2_19941826_ChIP-Seq_K562_Human0.81182249
142AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.77465943
143GATA1_19941827_ChIP-Seq_MEL_Mouse0.76532655
144SCL_19346495_ChIP-Seq_HPC-7_Human0.74054609
145BRD4_27068464_Chip-Seq_AML-cells_Mouse0.73102137
146KAP1_22055183_ChIP-Seq_ESCs_Mouse0.72900858
147RARA_24833708_ChIP-Seq_LIVER_Mouse0.71141601
148GATA1_19941826_ChIP-Seq_K562_Human0.69723560
149SOX2_20726797_ChIP-Seq_SW620_Human0.69156890
150NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.67742898
151LXR_22292898_ChIP-Seq_THP-1_Human0.67004329
152LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.66619748
153NRF2_20460467_ChIP-Seq_MEFs_Mouse0.66031916
154NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.66031916
155GATA6_25053715_ChIP-Seq_YYC3_Human0.65858173
156SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.65626493
157PPAR_26484153_Chip-Seq_NCI-H1993_Human0.64288723
158GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.63236532
159FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.61758391
160PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.61107881
161TP63_17297297_ChIP-ChIP_HaCaT_Human0.61049328
162FOXO3_23340844_ChIP-Seq_DLD1_Human0.60330220
163ESR1_15608294_ChIP-ChIP_MCF-7_Human0.59790371
164GATA2_21666600_ChIP-Seq_HMVEC_Human0.58309928
165RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.58031211
166FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.57933235
167PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.57282496
168RUNX_20019798_ChIP-Seq_JUKART_Human0.57245061
169RAD21_21589869_ChIP-Seq_MESCs_Mouse0.56549704
170* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.56284224
171STAT1_17558387_ChIP-Seq_HELA_Human0.55529107
172CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.54965669
173EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.54894440
174FOXA1_25552417_ChIP-Seq_VCAP_Human0.54614070
175ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.54610523
176VDR_24787735_ChIP-Seq_THP-1_Human0.53207213
177CEBPB_22108803_ChIP-Seq_LS180_Human0.53187228
178BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.52767642
179PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.52242358
180MYC_19915707_ChIP-ChIP_AK7_Human0.52218255
181AUTS2_25519132_ChIP-Seq_293T-REX_Human0.52009277
182ESR1_20079471_ChIP-ChIP_T-47D_Human0.51839400
183MYB_21317192_ChIP-Seq_ERMYB_Mouse0.51310501
184SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.51079696
185ZNF263_19887448_ChIP-Seq_K562_Human0.51045847
186FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.50325359
187ESET_19884257_ChIP-Seq_ESCs_Mouse0.49978424
188AR_20517297_ChIP-Seq_VCAP_Human0.49939024
189STAT3_1855785_ChIP-Seq_MESCs_Mouse0.48695058
190PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.48510669
191TAF2_19829295_ChIP-Seq_ESCs_Human0.48071502
192CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.47428097
193PU_27001747_Chip-Seq_BMDM_Mouse0.46790330
194ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.46575029

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis7.85035330
2MP0002139_abnormal_hepatobiliary_system7.63248493
3MP0005085_abnormal_gallbladder_physiolo5.98091131
4MP0005365_abnormal_bile_salt5.44813078
5MP0008875_abnormal_xenobiotic_pharmacok4.69576690
6MP0003252_abnormal_bile_duct4.04810219
7MP0003646_muscle_fatigue3.90151071
8MP0009840_abnormal_foam_cell3.89420326
9MP0010329_abnormal_lipoprotein_level3.47900450
10MP0002837_dystrophic_cardiac_calcinosis3.47385425
11MP0003806_abnormal_nucleotide_metabolis3.42912772
12MP0004215_abnormal_myocardial_fiber3.08818141
13MP0001666_abnormal_nutrient_absorption3.07163642
14MP0004145_abnormal_muscle_electrophysio2.86618044
15MP0004084_abnormal_cardiac_muscle2.83845500
16MP0003191_abnormal_cellular_cholesterol2.68518135
17MP0008877_abnormal_DNA_methylation2.67134892
18MP0005332_abnormal_amino_acid2.66788893
19MP0005083_abnormal_biliary_tract2.30680223
20MP0001984_abnormal_olfaction2.29713070
21MP0004019_abnormal_vitamin_homeostasis2.22661390
22MP0003195_calcinosis2.14404051
23MP0008775_abnormal_heart_ventricle2.10486876
24MP0000609_abnormal_liver_physiology2.08751945
25MP0004036_abnormal_muscle_relaxation2.08301967
26MP0002118_abnormal_lipid_homeostasis1.99162829
27MP0001986_abnormal_taste_sensitivity1.98292251
28MP0002138_abnormal_hepatobiliary_system1.92388614
29MP0005551_abnormal_eye_electrophysiolog1.91961320
30MP0001968_abnormal_touch/_nociception1.87746767
31MP0002102_abnormal_ear_morphology1.85534344
32MP0004484_altered_response_of1.84585994
33MP0000751_myopathy1.78083420
34MP0005319_abnormal_enzyme/_coenzyme1.74711882
35MP0003137_abnormal_impulse_conducting1.70073622
36MP0009745_abnormal_behavioral_response1.68306083
37MP0000569_abnormal_digit_pigmentation1.64521691
38MP0004043_abnormal_pH_regulation1.60119593
39MP0002638_abnormal_pupillary_reflex1.59556785
40MP0009697_abnormal_copulation1.55808192
41MP0001486_abnormal_startle_reflex1.55583705
42MP0000383_abnormal_hair_follicle1.55561105
43MP0005584_abnormal_enzyme/coenzyme_acti1.55040579
44MP0004085_abnormal_heartbeat1.54894227
45MP0009046_muscle_twitch1.54321653
46MP0001501_abnormal_sleep_pattern1.51621694
47MP0003868_abnormal_feces_composition1.50064385
48MP0005330_cardiomyopathy1.47234210
49MP0002272_abnormal_nervous_system1.47055088
50MP0002736_abnormal_nociception_after1.46405946
51MP0000749_muscle_degeneration1.45156799
52MP0000427_abnormal_hair_cycle1.41093484
53MP0006276_abnormal_autonomic_nervous1.38715471
54* MP0001764_abnormal_homeostasis1.37866566
55MP0005620_abnormal_muscle_contractility1.37717392
56MP0005646_abnormal_pituitary_gland1.36431816
57MP0009643_abnormal_urine_homeostasis1.35347588
58MP0002972_abnormal_cardiac_muscle1.33350598
59MP0003880_abnormal_central_pattern1.30980695
60MP0005645_abnormal_hypothalamus_physiol1.30464397
61MP0004133_heterotaxia1.29518672
62MP0004142_abnormal_muscle_tone1.28850117
63MP0005253_abnormal_eye_physiology1.28343151
64MP0005451_abnormal_body_composition1.25218591
65MP0000604_amyloidosis1.21866211
66MP0009764_decreased_sensitivity_to1.18143881
67MP0004885_abnormal_endolymph1.16763093
68MP0008469_abnormal_protein_level1.16423568
69MP0002653_abnormal_ependyma_morphology1.16393728
70MP0005464_abnormal_platelet_physiology1.15996265
71MP0002106_abnormal_muscle_physiology1.15725850
72MP0003436_decreased_susceptibility_to1.15401707
73MP0003690_abnormal_glial_cell1.14763345
74MP0003011_delayed_dark_adaptation1.14569253
75MP0002254_reproductive_system_inflammat1.10778867
76MP0002572_abnormal_emotion/affect_behav1.10666355
77MP0002332_abnormal_exercise_endurance1.09165228
78MP0003656_abnormal_erythrocyte_physiolo1.08680630
79MP0003705_abnormal_hypodermis_morpholog1.08588819
80* MP0000598_abnormal_liver_morphology1.08327525
81MP0002064_seizures1.08217744
82MP0001485_abnormal_pinna_reflex1.06983848
83MP0003186_abnormal_redox_activity1.06944387
84MP0006082_CNS_inflammation1.05317447
85MP0009763_increased_sensitivity_to1.04785652
86MP0002127_abnormal_cardiovascular_syste1.04544014
87MP0006072_abnormal_retinal_apoptosis1.04411940
88MP0001661_extended_life_span1.04333283
89MP0003075_altered_response_to1.04167495
90MP0002735_abnormal_chemical_nociception1.03261727
91MP0005385_cardiovascular_system_phenoty1.01396338
92MP0001544_abnormal_cardiovascular_syste1.01396338
93MP0002234_abnormal_pharynx_morphology0.99937353
94MP0000013_abnormal_adipose_tissue0.96255902
95MP0005647_abnormal_sex_gland0.96214124
96MP0000230_abnormal_systemic_arterial0.95866905
97MP0005058_abnormal_lysosome_morphology0.95343674
98* MP0009642_abnormal_blood_homeostasis0.94743360
99MP0002160_abnormal_reproductive_system0.94662199
100MP0005369_muscle_phenotype0.94484145
101MP0005636_abnormal_mineral_homeostasis0.92942132
102MP0003136_yellow_coat_color0.92907238
103MP0001502_abnormal_circadian_rhythm0.92573768
104MP0005386_behavior/neurological_phenoty0.92268063
105MP0004924_abnormal_behavior0.92268063
106MP0003635_abnormal_synaptic_transmissio0.92256246
107MP0005084_abnormal_gallbladder_morpholo0.91229164
108MP0002063_abnormal_learning/memory/cond0.89164291
109MP0001970_abnormal_pain_threshold0.88466136
110MP0002557_abnormal_social/conspecific_i0.88423272
111MP0002067_abnormal_sensory_capabilities0.87110605
112MP0000372_irregular_coat_pigmentation0.85886601
113MP0001835_abnormal_antigen_presentation0.84824133
114MP0004147_increased_porphyrin_level0.83490533
115MP0005670_abnormal_white_adipose0.83449982
116MP0005166_decreased_susceptibility_to0.82954595
117MP0003724_increased_susceptibility_to0.82768897
118MP0006138_congestive_heart_failure0.82582662
119MP0002733_abnormal_thermal_nociception0.80999385
120MP0005408_hypopigmentation0.80670064
121MP0002419_abnormal_innate_immunity0.78918154
122MP0010678_abnormal_skin_adnexa0.78710949
123MP0000631_abnormal_neuroendocrine_gland0.78507250
124MP0005167_abnormal_blood-brain_barrier0.78291906
125MP0003698_abnormal_male_reproductive0.77931964
126MP0002282_abnormal_trachea_morphology0.77665002
127MP0002269_muscular_atrophy0.76864117
128MP0003787_abnormal_imprinting0.76116192
129MP0002229_neurodegeneration0.76073268
130MP0004087_abnormal_muscle_fiber0.75657685
131MP0009765_abnormal_xenobiotic_induced0.75409211
132MP0002909_abnormal_adrenal_gland0.74545002
133MP0002132_abnormal_respiratory_system0.73059850
134MP0003300_gastrointestinal_ulcer0.72483634
135* MP0005376_homeostasis/metabolism_phenot0.72292723
136MP0005334_abnormal_fat_pad0.69868469
137MP0002136_abnormal_kidney_physiology0.69510574
138MP0002078_abnormal_glucose_homeostasis0.68310422
139MP0001845_abnormal_inflammatory_respons0.66958936
140MP0002971_abnormal_brown_adipose0.66708869
141MP0002928_abnormal_bile_duct0.65510783
142MP0010368_abnormal_lymphatic_system0.65479706
143MP0005535_abnormal_body_temperature0.65300124
144MP0002876_abnormal_thyroid_physiology0.64862307
145MP0001756_abnormal_urination0.64689883
146MP0001853_heart_inflammation0.62658863
147MP0005448_abnormal_energy_balance0.61238903
148MP0003183_abnormal_peptide_metabolism0.61044891
149MP0003638_abnormal_response/metabolism_0.60593599
150MP0005025_abnormal_response_to0.60103407
151MP0008873_increased_physiological_sensi0.59646940
152MP0009785_altered_susceptibility_to0.58790734
153MP0003329_amyloid_beta_deposits0.58068202
154MP0004130_abnormal_muscle_cell0.55046749
155MP0004883_abnormal_blood_vessel0.54597403
156MP0004947_skin_inflammation0.53384757
157MP0001533_abnormal_skeleton_physiology0.52994832
158MP0000249_abnormal_blood_vessel0.52882795
159MP0010234_abnormal_vibrissa_follicle0.52797607
160MP0010155_abnormal_intestine_physiology0.51507512
161MP0009053_abnormal_anal_canal0.51355725
162MP0005266_abnormal_metabolism0.49814040
163MP0006036_abnormal_mitochondrial_physio0.49136310
164MP0004782_abnormal_surfactant_physiolog0.48634764
165MP0003172_abnormal_lysosome_physiology0.47554970
166MP0002822_catalepsy0.47544016
167MP0009115_abnormal_fat_cell0.46352628
168MP0002090_abnormal_vision0.45509816
169MP0008874_decreased_physiological_sensi0.45216288
170MP0000639_abnormal_adrenal_gland0.45082670
171MP0002148_abnormal_hypersensitivity_rea0.44460810
172MP0005164_abnormal_response_to0.42228123
173MP0004264_abnormal_extraembryonic_tissu0.41750639
174MP0005395_other_phenotype0.41080554
175MP0005220_abnormal_exocrine_pancreas0.39932581
176MP0001800_abnormal_humoral_immune0.39741298
177MP0008872_abnormal_physiological_respon0.39369274
178MP0003718_maternal_effect0.38393866
179MP0003953_abnormal_hormone_level0.38100737
180MP0005666_abnormal_adipose_tissue0.37893918

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)6.59749183
2Deep venous thrombosis (HP:0002625)6.46372511
3Abnormality of aromatic amino acid family metabolism (HP:0004338)6.45697521
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.23044623
5Hypobetalipoproteinemia (HP:0003563)6.18667574
6Xanthomatosis (HP:0000991)5.95147301
7Complement deficiency (HP:0004431)5.94080211
8Prolonged partial thromboplastin time (HP:0003645)5.56643687
9Hyperlipoproteinemia (HP:0010980)4.80099656
10Systemic lupus erythematosus (HP:0002725)4.71487094
11Abnormality of glutamine family amino acid metabolism (HP:0010902)4.68088866
12Joint hemorrhage (HP:0005261)4.55355940
13Abnormality of complement system (HP:0005339)4.52241557
14Hypolipoproteinemia (HP:0010981)4.48394896
15Pancreatic cysts (HP:0001737)4.34912485
16Absent/shortened dynein arms (HP:0200106)4.24196228
17Dynein arm defect of respiratory motile cilia (HP:0012255)4.24196228
18Hyperammonemia (HP:0001987)4.22734301
19Epidermoid cyst (HP:0200040)4.14893911
20Abnormality of sulfur amino acid metabolism (HP:0004339)4.12389875
21Pancreatic fibrosis (HP:0100732)4.12286412
22Abnormal respiratory epithelium morphology (HP:0012253)4.07453035
23Abnormal respiratory motile cilium morphology (HP:0005938)4.07453035
24Fat malabsorption (HP:0002630)4.06496686
25Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.05381826
26Glomerulonephritis (HP:0000099)4.04283594
27Abnormality of the common coagulation pathway (HP:0010990)4.04194580
28Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.99181096
29Abnormality of aspartate family amino acid metabolism (HP:0010899)3.96912893
30Hyperglycinuria (HP:0003108)3.90543026
31Conjugated hyperbilirubinemia (HP:0002908)3.90275465
32Abnormal ciliary motility (HP:0012262)3.85283403
33Hyperglycinemia (HP:0002154)3.82175037
34Abnormality of methionine metabolism (HP:0010901)3.77338580
35True hermaphroditism (HP:0010459)3.76270342
36Abnormality of serine family amino acid metabolism (HP:0010894)3.71266985
37Abnormality of glycine metabolism (HP:0010895)3.71266985
38Abnormal respiratory motile cilium physiology (HP:0012261)3.70792181
39Abnormality of the renal cortex (HP:0011035)3.69331607
40Ketosis (HP:0001946)3.68549787
41Abnormality of pyrimidine metabolism (HP:0004353)3.67602420
42Hypoalphalipoproteinemia (HP:0003233)3.64752072
43Hypercholesterolemia (HP:0003124)3.61859337
44Molar tooth sign on MRI (HP:0002419)3.55845538
45Abnormality of midbrain morphology (HP:0002418)3.55845538
46Nephronophthisis (HP:0000090)3.41918920
47Medial flaring of the eyebrow (HP:0010747)3.37872898
48Hypoglycemic coma (HP:0001325)3.30676078
49Abnormality of the intrinsic pathway (HP:0010989)3.23824351
50Bundle branch block (HP:0011710)3.21615577
51Type II lissencephaly (HP:0007260)3.19014335
52Abnormality of the renal medulla (HP:0100957)3.16411146
53Hyperbilirubinemia (HP:0002904)3.13327891
54Rhinitis (HP:0012384)3.11170550
55Sudden death (HP:0001699)3.10481572
56Atrial fibrillation (HP:0005110)3.08659709
57Cystic liver disease (HP:0006706)3.07166269
58Abnormality of nucleobase metabolism (HP:0010932)3.04067833
59Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.03561031
60Bile duct proliferation (HP:0001408)3.03099308
61Abnormal biliary tract physiology (HP:0012439)3.03099308
62Abnormality of fatty-acid metabolism (HP:0004359)3.01310048
63Calf muscle hypertrophy (HP:0008981)2.99560251
64Muscle hypertrophy of the lower extremities (HP:0008968)2.99399710
65Acanthocytosis (HP:0001927)2.97911780
66Recurrent gram-negative bacterial infections (HP:0005420)2.95765330
67Syncope (HP:0001279)2.95416137
68Myocardial infarction (HP:0001658)2.95402458
69Gait imbalance (HP:0002141)2.94473770
70Primary atrial arrhythmia (HP:0001692)2.86268940
71Chronic hepatic failure (HP:0100626)2.84717785
72Decreased circulating renin level (HP:0003351)2.83709081
73Congenital primary aphakia (HP:0007707)2.82908026
74Left ventricular hypertrophy (HP:0001712)2.82729629
75Ketoacidosis (HP:0001993)2.79555364
76Tubular atrophy (HP:0000092)2.78812207
77Amyloidosis (HP:0011034)2.78790931
78Skin nodule (HP:0200036)2.77005443
79Steatorrhea (HP:0002570)2.75112792
80Abnormal drinking behavior (HP:0030082)2.72959699
81Polydipsia (HP:0001959)2.72959699
82Renal cortical cysts (HP:0000803)2.72882599
83Abnormality of purine metabolism (HP:0004352)2.72300540
84Malnutrition (HP:0004395)2.71455671
85Vascular calcification (HP:0004934)2.68368797
86Delayed CNS myelination (HP:0002188)2.67036129
87Supraventricular tachycardia (HP:0004755)2.66502993
88Hyperventilation (HP:0002883)2.66297214
89Metabolic acidosis (HP:0001942)2.63646245
90Hydroxyprolinuria (HP:0003080)2.62634558
91Abnormality of proline metabolism (HP:0010907)2.62634558
92Abnormality of the calf musculature (HP:0001430)2.61960905
93Nephritis (HP:0000123)2.61373578
94Febrile seizures (HP:0002373)2.60978971
95Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.59738586
96Abnormality of alanine metabolism (HP:0010916)2.59738586
97Hyperalaninemia (HP:0003348)2.59738586
98Abnormality of serum amino acid levels (HP:0003112)2.59346527
99Nephrogenic diabetes insipidus (HP:0009806)2.59320453
100Congenital stationary night blindness (HP:0007642)2.57047796
101Supraventricular arrhythmia (HP:0005115)2.55001195
102Hepatocellular carcinoma (HP:0001402)2.49328062
103Mitral stenosis (HP:0001718)2.47740959
104Heart block (HP:0012722)2.45438046
105Occipital encephalocele (HP:0002085)2.44510682
106Spontaneous abortion (HP:0005268)2.42225109
107Sensorimotor neuropathy (HP:0007141)2.41473856
108Congenital hepatic fibrosis (HP:0002612)2.40512535
109Cardiovascular calcification (HP:0011915)2.35133467
110Hypochromic microcytic anemia (HP:0004840)2.33795438
111Abnormality of dicarboxylic acid metabolism (HP:0010995)2.32590218
112Dicarboxylic aciduria (HP:0003215)2.32590218
113Gingival bleeding (HP:0000225)2.32286890
114Irritability (HP:0000737)2.28976636
115Genital tract atresia (HP:0001827)2.28281681
116Menorrhagia (HP:0000132)2.24010329
117Vaginal atresia (HP:0000148)2.23177083
118Lethargy (HP:0001254)2.23143446
119Hypoglycemic seizures (HP:0002173)2.20475726
120Abnormal gallbladder physiology (HP:0012438)2.16069969
121Cholecystitis (HP:0001082)2.16069969
122Gout (HP:0001997)2.15347077
123Poikilocytosis (HP:0004447)2.14588731
124Late onset (HP:0003584)2.14577607
125Poor coordination (HP:0002370)2.13403843
126Pancreatitis (HP:0001733)2.13313289
127Bronchiectasis (HP:0002110)2.12732926
128Abnormal gallbladder morphology (HP:0012437)2.12179701
129Chronic bronchitis (HP:0004469)2.11685665
130Spastic diplegia (HP:0001264)2.07967858
131Cerebellar dysplasia (HP:0007033)2.07946943
132Esophageal varix (HP:0002040)2.07602350
133Cholelithiasis (HP:0001081)2.05336435
134Sclerocornea (HP:0000647)2.04474650
135Aplasia/Hypoplasia of the tongue (HP:0010295)2.04407695
136Abnormal atrioventricular conduction (HP:0005150)2.01622507
137Progressive cerebellar ataxia (HP:0002073)1.99970190
138Abolished electroretinogram (ERG) (HP:0000550)1.98999183
139Muscle fiber splitting (HP:0003555)1.98310981
140Generalized aminoaciduria (HP:0002909)1.98082643
141Tubulointerstitial nephritis (HP:0001970)1.97065809
142Opisthotonus (HP:0002179)1.96989631
143Aplasia/Hypoplasia of the spleen (HP:0010451)1.96749485
144Furrowed tongue (HP:0000221)1.94784595
145Polyuria (HP:0000103)1.94443694
146Asplenia (HP:0001746)1.94029493
147Atonic seizures (HP:0010819)1.93635541
148Abnormality of vitamin metabolism (HP:0100508)1.93200393
149Hemorrhage of the eye (HP:0011885)1.92839745
150Thrombophlebitis (HP:0004418)1.91967417
151Male pseudohermaphroditism (HP:0000037)1.91908222
152Neonatal onset (HP:0003623)1.91561410
153Fair hair (HP:0002286)1.91433032
154Attenuation of retinal blood vessels (HP:0007843)1.89324936
155Abnormality of transition element cation homeostasis (HP:0011030)1.88977787
156Supernumerary spleens (HP:0009799)1.88229681
157Postaxial foot polydactyly (HP:0001830)1.87536625
158Axonal loss (HP:0003447)1.87454267
159Abnormality of iron homeostasis (HP:0011031)1.86837338
160Tubulointerstitial abnormality (HP:0001969)1.86171055
161Abnormal enzyme/coenzyme activity (HP:0012379)1.85691126
162Prolonged QT interval (HP:0001657)1.85436868
163Alkalosis (HP:0001948)1.85400268
164Vomiting (HP:0002013)1.84555867
165Gaze-evoked nystagmus (HP:0000640)1.83372004
166Ventricular tachycardia (HP:0004756)1.82729121
167Congenital sensorineural hearing impairment (HP:0008527)1.82685250
168Pachygyria (HP:0001302)1.81422815
169Chorioretinal atrophy (HP:0000533)1.81130916
170Hyperkalemia (HP:0002153)1.80810365
171Retinal atrophy (HP:0001105)1.80403515
172Absent speech (HP:0001344)1.79787226
173Upper motor neuron abnormality (HP:0002127)1.79196681
174Hepatic necrosis (HP:0002605)1.78688799
175Large for gestational age (HP:0001520)1.78610474
176Abnormality of the gallbladder (HP:0005264)1.77132728
177Lipoatrophy (HP:0100578)1.76969299
178Hyporeflexia of lower limbs (HP:0002600)1.76700144
179Abnormality of urine glucose concentration (HP:0011016)1.76225930
180Glycosuria (HP:0003076)1.76225930
181Rickets (HP:0002748)1.75415117
182Enlarged kidneys (HP:0000105)1.75082673
183Decreased central vision (HP:0007663)1.74662769
184Severe muscular hypotonia (HP:0006829)1.74422869
185Ileus (HP:0002595)1.73284047
186Cerebral edema (HP:0002181)1.73239221
187Constricted visual fields (HP:0001133)1.72764643
188Dialeptic seizures (HP:0011146)1.72147094
189Aplasia/Hypoplasia of the tibia (HP:0005772)1.71632317
190Abnormal rod and cone electroretinograms (HP:0008323)1.71288050
191Lissencephaly (HP:0001339)1.70525620
192Elevated alkaline phosphatase (HP:0003155)1.70492981
193Pigmentary retinal degeneration (HP:0001146)1.70355224
194Hyperinsulinemic hypoglycemia (HP:0000825)1.69732821

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK4.98256929
2ERN13.87098805
3OBSCN3.58938013
4PDK23.57753470
5FGFR43.22373690
6FRK3.12765487
7SIK13.07508815
8MST1R2.94416655
9TAOK32.62590783
10TYK22.56745533
11MAP4K22.51112366
12TGFBR22.49870567
13NEK92.39315843
14CASK2.28704120
15INSRR2.22821471
16WNK32.16633370
17BMPR1B2.05960305
18PHKG21.91860238
19PHKG11.91860238
20IRAK31.89045490
21TBK11.88809221
22MAPK131.76947465
23ERBB41.75890445
24MAPK151.75639599
25PKN21.75205422
26MAP3K141.74948501
27BRSK21.73425827
28PNCK1.70488554
29STK38L1.70101331
30MARK11.68619011
31MAP3K41.62024663
32TIE11.57054864
33MAP3K101.56625564
34PTK61.55651262
35MAPK121.54417285
36MYLK1.51043923
37IRAK41.50088158
38GRK61.49000005
39PAK31.48853548
40MAPK111.48312831
41MAPK71.43369170
42CSF1R1.43222867
43JAK11.42934203
44OXSR11.40865029
45WNK41.36653262
46PIK3CG1.36282974
47BLK1.33337780
48JAK21.32432162
49TRIB31.31737582
50ACVR1B1.23947647
51PTK2B1.23635444
52FLT31.19552024
53ADRBK11.19297103
54NUAK11.15564842
55PRKCE1.13440473
56STK391.11710216
57TNIK1.09072501
58ERBB21.08283421
59MAPK41.07056581
60PRKAA21.06617156
61IKBKE1.06314094
62MAP2K41.04674494
63DYRK21.04229003
64FGFR21.02605904
65NTRK31.02116371
66GRK70.99760342
67CSK0.97059447
68CAMK1D0.96787476
69DAPK20.93505653
70CAMK2A0.93493890
71MAP4K10.93000172
72EPHB10.91477787
73CAMKK20.90776474
74MAP3K70.90462813
75TRPM70.87619663
76KIT0.87573864
77WEE10.86728277
78MAP2K70.85815472
79CDK60.85264990
80CAMK10.85067131
81LMTK20.84868019
82ABL20.84606813
83PDPK10.84064221
84PRKG20.83347726
85FGFR30.82359141
86MUSK0.82187767
87EPHA40.80464375
88MET0.79477901
89PRKCG0.78062178
90TTN0.75854933
91PDK10.74778967
92RIPK10.74694408
93IKBKB0.74604306
94IGF1R0.74417664
95NEK60.74164247
96MAP2K20.73184487
97PLK20.72326650
98LATS10.71598038
99PRKCZ0.71337178
100PRKACA0.69991785
101PKN10.69825804
102PINK10.67000146
103MAPKAPK30.65658233
104SGK30.65636944
105PRKACG0.64409351
106MKNK20.63601949
107STK110.60989971
108GRK50.59777602
109LYN0.59681821
110ZAP700.59367878
111ZAK0.59212868
112MAPKAPK50.58724220
113MATK0.58210037
114ITK0.58059395
115CAMK2D0.57990695
116PRKG10.57574547
117STK100.55974488
118CDK190.55462954
119ERBB30.55380832
120BTK0.54112158
121AKT30.53877349
122MAP3K30.52281030
123STK240.52231960
124KDR0.52141948
125MAP2K30.50876655
126STK380.50739386
127MAP3K20.49855283
128IRAK20.49662078
129GSK3A0.49245099
130PIK3CA0.48442569
131ROCK10.47542154
132NME10.47321810
133DYRK1B0.45195055
134HCK0.45064097
135TXK0.44927624
136BCR0.43749387
137PRKAA10.43682205
138EGFR0.43080921
139DMPK0.42960243
140PRKCQ0.42767329
141MAP2K60.41720216
142MAP3K50.41293618
143IRAK10.41235255
144GRK10.40690430
145CHUK0.40267233
146PTK20.39161718
147FER0.38242482
148NLK0.37870984
149SGK20.37171640
150CAMK40.36907369
151SYK0.36363464
152EPHA30.36346817
153MAP3K130.35953828
154PRKACB0.35860663
155PRKCA0.35192239
156DYRK1A0.34970578
157CSNK1A10.34263340
158CAMK2G0.34020852
159NTRK20.33440919
160PBK0.33052996
161ADRBK20.32972577
162BMX0.32484792
163TRIM280.31972683
164CDK50.31895200
165RET0.31306400
166CAMKK10.30490117

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.19408459
2Nitrogen metabolism_Homo sapiens_hsa009103.68128111
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.38789346
4Arginine biosynthesis_Homo sapiens_hsa002202.96294476
5Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.85391895
6Complement and coagulation cascades_Homo sapiens_hsa046102.76131584
7Tryptophan metabolism_Homo sapiens_hsa003802.57014783
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.44591842
9Staphylococcus aureus infection_Homo sapiens_hsa051502.44530730
10Pentose and glucuronate interconversions_Homo sapiens_hsa000402.41299982
11Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.37356054
12Fatty acid degradation_Homo sapiens_hsa000712.35700345
13Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.21423287
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.18567932
15Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.12576334
16Caffeine metabolism_Homo sapiens_hsa002322.09055374
17Peroxisome_Homo sapiens_hsa041461.98657205
18Histidine metabolism_Homo sapiens_hsa003401.92620248
19Butanoate metabolism_Homo sapiens_hsa006501.91953560
20Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.90241060
21Chemical carcinogenesis_Homo sapiens_hsa052041.89934392
22PPAR signaling pathway_Homo sapiens_hsa033201.87154667
23Cardiac muscle contraction_Homo sapiens_hsa042601.86055583
24Steroid hormone biosynthesis_Homo sapiens_hsa001401.81234037
25Phototransduction_Homo sapiens_hsa047441.79724858
26Fat digestion and absorption_Homo sapiens_hsa049751.75841574
27Propanoate metabolism_Homo sapiens_hsa006401.73629377
28Drug metabolism - other enzymes_Homo sapiens_hsa009831.67207179
29Bile secretion_Homo sapiens_hsa049761.65589863
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.64333904
31Fatty acid metabolism_Homo sapiens_hsa012121.64297973
32Retinol metabolism_Homo sapiens_hsa008301.63669086
33Starch and sucrose metabolism_Homo sapiens_hsa005001.62467786
34beta-Alanine metabolism_Homo sapiens_hsa004101.59342218
35Vitamin digestion and absorption_Homo sapiens_hsa049771.52210830
36Sulfur metabolism_Homo sapiens_hsa009201.50316691
37Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.48813453
38Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.44372175
39Folate biosynthesis_Homo sapiens_hsa007901.42832355
40Selenocompound metabolism_Homo sapiens_hsa004501.41807597
41ABC transporters_Homo sapiens_hsa020101.38079942
42Nicotine addiction_Homo sapiens_hsa050331.37255580
43Dilated cardiomyopathy_Homo sapiens_hsa054141.32261362
44Phenylalanine metabolism_Homo sapiens_hsa003601.32207106
452-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.31657618
46Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.31298918
47Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.30162688
48Circadian rhythm_Homo sapiens_hsa047101.21683363
49Steroid biosynthesis_Homo sapiens_hsa001001.19748428
50Tyrosine metabolism_Homo sapiens_hsa003501.18483569
51Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.18185329
52Pyruvate metabolism_Homo sapiens_hsa006201.17513914
53Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.13185802
54Maturity onset diabetes of the young_Homo sapiens_hsa049501.09061709
55Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.08995120
56Fatty acid elongation_Homo sapiens_hsa000621.07471959
57Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.04529223
58Biosynthesis of amino acids_Homo sapiens_hsa012301.03450236
59Cysteine and methionine metabolism_Homo sapiens_hsa002701.01443419
60Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.00736098
61Carbon metabolism_Homo sapiens_hsa012001.00472659
62Taste transduction_Homo sapiens_hsa047420.99638227
63Morphine addiction_Homo sapiens_hsa050320.99403250
64Arginine and proline metabolism_Homo sapiens_hsa003300.98406697
65Oxidative phosphorylation_Homo sapiens_hsa001900.94759323
66Cyanoamino acid metabolism_Homo sapiens_hsa004600.92790509
67Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.90893714
68Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.90658277
69Circadian entrainment_Homo sapiens_hsa047130.88510697
70Insulin secretion_Homo sapiens_hsa049110.88471626
71Serotonergic synapse_Homo sapiens_hsa047260.84296760
72Parkinsons disease_Homo sapiens_hsa050120.82660153
73Calcium signaling pathway_Homo sapiens_hsa040200.81967582
74Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.81485844
75Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.81282494
76Olfactory transduction_Homo sapiens_hsa047400.78979667
77GABAergic synapse_Homo sapiens_hsa047270.77495632
78Glutamatergic synapse_Homo sapiens_hsa047240.77138632
79Glycerolipid metabolism_Homo sapiens_hsa005610.75641609
80Salivary secretion_Homo sapiens_hsa049700.73124705
81Sulfur relay system_Homo sapiens_hsa041220.72910409
82Lysine degradation_Homo sapiens_hsa003100.72862498
83Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.72636688
84Glutathione metabolism_Homo sapiens_hsa004800.70869737
85Galactose metabolism_Homo sapiens_hsa000520.67113649
86Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.67061079
87Huntingtons disease_Homo sapiens_hsa050160.64905832
88Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.60440304
89Vitamin B6 metabolism_Homo sapiens_hsa007500.59879475
90One carbon pool by folate_Homo sapiens_hsa006700.58193296
91Pentose phosphate pathway_Homo sapiens_hsa000300.57058853
92Renin secretion_Homo sapiens_hsa049240.55296427
93Vascular smooth muscle contraction_Homo sapiens_hsa042700.54172343
94Fatty acid biosynthesis_Homo sapiens_hsa000610.53121910
95Prion diseases_Homo sapiens_hsa050200.52993495
96Fructose and mannose metabolism_Homo sapiens_hsa000510.51939313
97Regulation of autophagy_Homo sapiens_hsa041400.50374022
98Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.49357407
99Oxytocin signaling pathway_Homo sapiens_hsa049210.48197162
100Alzheimers disease_Homo sapiens_hsa050100.47849943
101cAMP signaling pathway_Homo sapiens_hsa040240.46040262
102Renin-angiotensin system_Homo sapiens_hsa046140.45535637
103Metabolic pathways_Homo sapiens_hsa011000.40854408
104Gastric acid secretion_Homo sapiens_hsa049710.39995228
105Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.37837267
106Cocaine addiction_Homo sapiens_hsa050300.37353128
107cGMP-PKG signaling pathway_Homo sapiens_hsa040220.36456563
108Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.36388757
109Amphetamine addiction_Homo sapiens_hsa050310.35686588
110Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.34076380
111Mineral absorption_Homo sapiens_hsa049780.33814899
112Carbohydrate digestion and absorption_Homo sapiens_hsa049730.32404980
113Dopaminergic synapse_Homo sapiens_hsa047280.32332903
114alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.29203219
115Glycosaminoglycan degradation_Homo sapiens_hsa005310.26748211
116Glycerophospholipid metabolism_Homo sapiens_hsa005640.23432336
117Insulin resistance_Homo sapiens_hsa049310.21612287
118Linoleic acid metabolism_Homo sapiens_hsa005910.20911226
119Other glycan degradation_Homo sapiens_hsa005110.20758062
120Pertussis_Homo sapiens_hsa051330.17339213
121Adipocytokine signaling pathway_Homo sapiens_hsa049200.14162633
122Lysosome_Homo sapiens_hsa041420.11966114
123African trypanosomiasis_Homo sapiens_hsa051430.09444160
124Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.07294243
125Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.01445990
126Toll-like receptor signaling pathway_Homo sapiens_hsa046200.00088927
127Terpenoid backbone biosynthesis_Homo sapiens_hsa00900-0.1157322
128Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601-0.1150037
129Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0924326
130Ether lipid metabolism_Homo sapiens_hsa00565-0.0866583
131Osteoclast differentiation_Homo sapiens_hsa04380-0.0769372
132Intestinal immune network for IgA production_Homo sapiens_hsa04672-0.0726949
133Legionellosis_Homo sapiens_hsa05134-0.0703016
134Protein digestion and absorption_Homo sapiens_hsa04974-0.0681047
135Glucagon signaling pathway_Homo sapiens_hsa04922-0.0524440
136Hepatitis C_Homo sapiens_hsa05160-0.0456756
137RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622-0.0353557
138Leishmaniasis_Homo sapiens_hsa05140-0.0209713
139Arachidonic acid metabolism_Homo sapiens_hsa00590-0.0002052

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