PDK1

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: Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cardiac chamber formation (GO:0003207)5.23429813
2lysine metabolic process (GO:0006553)5.19922207
3lysine catabolic process (GO:0006554)5.19922207
42-oxoglutarate metabolic process (GO:0006103)4.78669512
5glyoxylate metabolic process (GO:0046487)4.66673342
6alpha-linolenic acid metabolic process (GO:0036109)4.58815044
7negative regulation of hormone biosynthetic process (GO:0032353)4.56208461
8L-phenylalanine metabolic process (GO:0006558)4.51554478
9erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.51554478
10regulation of cardioblast differentiation (GO:0051890)4.38961582
11triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.35574398
12positive regulation of cardiac muscle cell differentiation (GO:2000727)4.34174993
13glycine metabolic process (GO:0006544)4.32951201
14L-phenylalanine catabolic process (GO:0006559)4.30958187
15erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.30958187
16valine metabolic process (GO:0006573)4.28929110
17fatty acid transmembrane transport (GO:1902001)4.28516087
18carnitine shuttle (GO:0006853)4.25512523
19regulation of sarcomere organization (GO:0060297)4.19832298
20kynurenine metabolic process (GO:0070189)4.19451072
21tricarboxylic acid cycle (GO:0006099)4.14231440
22sequestering of extracellular ligand from receptor (GO:0035581)4.06106065
23negative regulation of fatty acid biosynthetic process (GO:0045717)4.05999646
24negative regulation of cytosolic calcium ion concentration (GO:0051481)3.95862322
25aspartate family amino acid catabolic process (GO:0009068)3.93947312
26serine family amino acid catabolic process (GO:0009071)3.93124656
27negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.91952793
28regulation of relaxation of muscle (GO:1901077)3.86873990
29aromatic amino acid family catabolic process (GO:0009074)3.85139218
30fatty acid beta-oxidation (GO:0006635)3.84641321
31negative regulation of hormone metabolic process (GO:0032351)3.84011280
32mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)3.83589459
33positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021103.83589459
34amino-acid betaine metabolic process (GO:0006577)3.83296797
35cardiac muscle cell development (GO:0055013)3.80984412
36cardiac ventricle formation (GO:0003211)3.80806343
37adult heart development (GO:0007512)3.80368599
384-hydroxyproline metabolic process (GO:0019471)3.79327289
39fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.78704307
40acetyl-CoA metabolic process (GO:0006084)3.76173111
41urea cycle (GO:0000050)3.73558715
42urea metabolic process (GO:0019627)3.73558715
43dicarboxylic acid biosynthetic process (GO:0043650)3.73032006
44oxaloacetate metabolic process (GO:0006107)3.70552558
45tricarboxylic acid metabolic process (GO:0072350)3.68726661
46cardiac right ventricle morphogenesis (GO:0003215)3.66557119
47short-chain fatty acid metabolic process (GO:0046459)3.59752103
48kidney morphogenesis (GO:0060993)3.59526168
49regulation of triglyceride catabolic process (GO:0010896)3.58625672
50cardiac myofibril assembly (GO:0055003)3.58216841
51ethanol oxidation (GO:0006069)3.56090607
52cardiac cell development (GO:0055006)3.54618948
53fatty acid oxidation (GO:0019395)3.53161208
54cellular ketone body metabolic process (GO:0046950)3.52669217
55folic acid-containing compound biosynthetic process (GO:0009396)3.52105384
56bile acid biosynthetic process (GO:0006699)3.50317975
57regulation of transforming growth factor beta2 production (GO:0032909)3.48808440
58pericardium development (GO:0060039)3.47153824
59indole-containing compound catabolic process (GO:0042436)3.47058844
60indolalkylamine catabolic process (GO:0046218)3.47058844
61tryptophan catabolic process (GO:0006569)3.47058844
62homocysteine metabolic process (GO:0050667)3.46679664
63positive regulation of cardiac muscle tissue development (GO:0055025)3.46405706
64regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.45909973
65alpha-amino acid catabolic process (GO:1901606)3.45659212
66sarcomere organization (GO:0045214)3.43344216
67carnitine metabolic process (GO:0009437)3.43153769
68relaxation of cardiac muscle (GO:0055119)3.42585639
69lipid oxidation (GO:0034440)3.42578565
70cysteine metabolic process (GO:0006534)3.42403197
71negative regulation of fibrinolysis (GO:0051918)3.41301535
72tryptophan metabolic process (GO:0006568)3.41131443
73branched-chain amino acid catabolic process (GO:0009083)3.40404854
74negative regulation of fatty acid metabolic process (GO:0045922)3.40068354
75serine family amino acid metabolic process (GO:0009069)3.39015406
76fatty acid catabolic process (GO:0009062)3.38741518
77sulfur amino acid catabolic process (GO:0000098)3.36232796
78regulation of sequestering of triglyceride (GO:0010889)3.35527599
79nitrogen cycle metabolic process (GO:0071941)3.33856098
80fatty acid homeostasis (GO:0055089)3.32208758
81cardiac muscle hypertrophy (GO:0003300)3.30888488
82neural tube formation (GO:0001841)3.30298722
83positive regulation of fatty acid beta-oxidation (GO:0032000)3.29847244
84bundle of His cell to Purkinje myocyte communication (GO:0086069)3.29377940
85peptidyl-glutamic acid carboxylation (GO:0017187)3.28494911
86protein carboxylation (GO:0018214)3.28494911
87regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.28128482
88positive regulation of cardiac muscle cell proliferation (GO:0060045)3.27691806
89pancreas development (GO:0031016)3.27409496
90endoderm formation (GO:0001706)3.27395990
91limb bud formation (GO:0060174)3.27201540
92ketone body metabolic process (GO:1902224)3.26437228
93genitalia morphogenesis (GO:0035112)3.25976033
94serine family amino acid biosynthetic process (GO:0009070)3.25008478
95regulation of fatty acid oxidation (GO:0046320)3.23231589
96monocarboxylic acid catabolic process (GO:0072329)3.21107615
97branched-chain amino acid metabolic process (GO:0009081)3.21075117
98dorsal/ventral axis specification (GO:0009950)3.20803265
99striated muscle hypertrophy (GO:0014897)3.19747485
100cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.18917926
101high-density lipoprotein particle remodeling (GO:0034375)3.18840398
102regulation of fatty acid beta-oxidation (GO:0031998)3.16804521
103endocardial cushion morphogenesis (GO:0003203)3.16523402
104cellular amino acid catabolic process (GO:0009063)3.15422766
105embryonic foregut morphogenesis (GO:0048617)3.14380156
106negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.13658178
107establishment of protein localization to Golgi (GO:0072600)3.11918201
108carnitine transmembrane transport (GO:1902603)3.11316718
109negative regulation of cholesterol transport (GO:0032375)3.10473723
110negative regulation of sterol transport (GO:0032372)3.10473723
111positive regulation of cardiac muscle tissue growth (GO:0055023)3.10425056
112regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.10060840
113* regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.10009079
114phospholipid homeostasis (GO:0055091)3.05940295
115imidazole-containing compound metabolic process (GO:0052803)3.04924390
116tyrosine metabolic process (GO:0006570)3.04873890
117acylglycerol homeostasis (GO:0055090)3.04855764
118triglyceride homeostasis (GO:0070328)3.04855764
119complement activation, alternative pathway (GO:0006957)3.04302413
120one-carbon metabolic process (GO:0006730)3.03771057
121tetrahydrofolate metabolic process (GO:0046653)3.02027114
122plasma lipoprotein particle clearance (GO:0034381)3.00272208
123atrial septum morphogenesis (GO:0060413)3.00135114
124DNA integration (GO:0015074)3.00053092
125regulation of fibrinolysis (GO:0051917)2.99819830
126organic acid catabolic process (GO:0016054)2.98053482
127carboxylic acid catabolic process (GO:0046395)2.98053482
128positive regulation of fatty acid oxidation (GO:0046321)2.96847393
129regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.96409690
130cardiac muscle tissue morphogenesis (GO:0055008)2.94765081
131regulation of protein activation cascade (GO:2000257)2.94603185
132aromatic amino acid family metabolic process (GO:0009072)2.94028014
133myofibril assembly (GO:0030239)2.93644560
134positive regulation of mitochondrial fission (GO:0090141)2.93462124
135cellular modified amino acid catabolic process (GO:0042219)2.92945291
136bile acid metabolic process (GO:0008206)2.92285834
137amino-acid betaine transport (GO:0015838)2.89195875
138carnitine transport (GO:0015879)2.89195875
139plasma lipoprotein particle remodeling (GO:0034369)2.86502821
140protein-lipid complex remodeling (GO:0034368)2.86502821
141macromolecular complex remodeling (GO:0034367)2.86502821
142regulation of non-canonical Wnt signaling pathway (GO:2000050)2.85891027
143regulation of cardiac muscle cell proliferation (GO:0060043)2.85543877
144positive regulation of heart growth (GO:0060421)2.84952512
145biotin metabolic process (GO:0006768)2.84610601
146presynaptic membrane assembly (GO:0097105)2.81958161
147negative regulation of translation, ncRNA-mediated (GO:0040033)2.81550198
148regulation of translation, ncRNA-mediated (GO:0045974)2.81550198
149negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.81550198
150response to caffeine (GO:0031000)2.80089505
151glutamate metabolic process (GO:0006536)2.79812868
152cerebral cortex radially oriented cell migration (GO:0021799)2.79380614
153protein K11-linked deubiquitination (GO:0035871)2.78743191
154DNA unwinding involved in DNA replication (GO:0006268)2.78740911
155otic vesicle formation (GO:0030916)2.78683523
156positive regulation of lipid catabolic process (GO:0050996)2.78254884
157DNA double-strand break processing (GO:0000729)2.77434573
158protein targeting to Golgi (GO:0000042)2.75708378
159positive regulation of developmental pigmentation (GO:0048087)2.75196820
160regulation of cardiac muscle cell differentiation (GO:2000725)2.71285298
161microtubule anchoring (GO:0034453)2.69038806
162gastrulation with mouth forming second (GO:0001702)2.67744704
163single strand break repair (GO:0000012)2.67640866
164cell communication involved in cardiac conduction (GO:0086065)2.67417125
165cell communication by electrical coupling (GO:0010644)2.64993280
166protein prenylation (GO:0018342)2.63530966
167prenylation (GO:0097354)2.63530966
168positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.63272993
169RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.63008244
170monoubiquitinated protein deubiquitination (GO:0035520)2.62855936
171retrograde transport, vesicle recycling within Golgi (GO:0000301)2.61138999
172muscle hypertrophy (GO:0014896)2.61055801
173mesenchyme morphogenesis (GO:0072132)2.60658262
174regulation of cardiac muscle tissue development (GO:0055024)2.59104571
175cardiac conduction (GO:0061337)2.59052106
176ventricular cardiac muscle cell action potential (GO:0086005)2.58974408
177pyrimidine nucleobase catabolic process (GO:0006208)2.57093201
178muscle tissue morphogenesis (GO:0060415)2.54355530
179positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.53836871
180negative regulation of DNA recombination (GO:0045910)2.52427466
181heart field specification (GO:0003128)2.50680753
182secondary heart field specification (GO:0003139)2.50680753
183regulation of steroid hormone biosynthetic process (GO:0090030)2.48423094
184centrosome localization (GO:0051642)2.47834300
185dentate gyrus development (GO:0021542)2.46555663
186centriole replication (GO:0007099)2.44481048
187somite rostral/caudal axis specification (GO:0032525)2.43925195
188mesenchymal cell differentiation (GO:0048762)2.43531772
189replication fork processing (GO:0031297)2.43412437
190cardiac muscle cell action potential (GO:0086001)2.41232456
191ventricular cardiac muscle tissue morphogenesis (GO:0055010)2.40668656
192regulation of pigment cell differentiation (GO:0050932)2.39863542
193regulation of mesoderm development (GO:2000380)2.39553653
194reciprocal meiotic recombination (GO:0007131)2.37564964
195reciprocal DNA recombination (GO:0035825)2.37564964
196somite development (GO:0061053)2.37525436
197positive regulation of muscle tissue development (GO:1901863)2.36679389

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse6.27796579
2E2F7_22180533_ChIP-Seq_HELA_Human5.91893914
3PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.87216450
4* RXR_22158963_ChIP-Seq_LIVER_Mouse4.15301570
5* PPARA_22158963_ChIP-Seq_LIVER_Mouse3.97008791
6GBX2_23144817_ChIP-Seq_PC3_Human3.30682896
7LXR_22158963_ChIP-Seq_LIVER_Mouse3.20280924
8POU3F2_20337985_ChIP-ChIP_501MEL_Human3.07281554
9CEBPD_23245923_ChIP-Seq_MEFs_Mouse3.03322455
10EGR1_23403033_ChIP-Seq_LIVER_Mouse3.01873058
11TAF15_26573619_Chip-Seq_HEK293_Human2.73772878
12* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.73684083
13IGF1R_20145208_ChIP-Seq_DFB_Human2.72996842
14FUS_26573619_Chip-Seq_HEK293_Human2.72625345
15FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.69519158
16ZFP57_27257070_Chip-Seq_ESCs_Mouse2.67943333
17VDR_22108803_ChIP-Seq_LS180_Human2.67824075
18TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.63392230
19FOXM1_23109430_ChIP-Seq_U2OS_Human2.62586415
20ZNF274_21170338_ChIP-Seq_K562_Hela2.56170712
21FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.49437959
22CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.48596666
23SALL1_21062744_ChIP-ChIP_HESCs_Human2.46299329
24EWS_26573619_Chip-Seq_HEK293_Human2.44217478
25HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.40937620
26* MYC_18555785_ChIP-Seq_MESCs_Mouse2.34333394
27GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.32368981
28P300_19829295_ChIP-Seq_ESCs_Human2.31899840
29AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.21789413
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.20014748
31ZNF263_19887448_ChIP-Seq_K562_Human2.18949179
32MYC_22102868_ChIP-Seq_BL_Human2.16965544
33FLI1_27457419_Chip-Seq_LIVER_Mouse2.13725631
34ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.11421727
35EGR1_19374776_ChIP-ChIP_THP-1_Human2.11390899
36CTBP2_25329375_ChIP-Seq_LNCAP_Human2.09669015
37* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.07477390
38PIAS1_25552417_ChIP-Seq_VCAP_Human2.02240390
39NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.02190743
40SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.95918805
41CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.93404189
42* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.93039465
43STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.91692018
44STAT3_1855785_ChIP-Seq_MESCs_Mouse1.91333704
45E2F4_17652178_ChIP-ChIP_JURKAT_Human1.88199420
46PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.83007677
47SMAD4_21799915_ChIP-Seq_A2780_Human1.79597739
48* CLOCK_20551151_ChIP-Seq_293T_Human1.77746644
49UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.74713118
50BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.74571429
51SMAD3_21741376_ChIP-Seq_EPCs_Human1.71244972
52WT1_19549856_ChIP-ChIP_CCG9911_Human1.70029860
53PCGF2_27294783_Chip-Seq_ESCs_Mouse1.69800218
54OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.69728876
55* STAT3_23295773_ChIP-Seq_U87_Human1.69300947
56GATA1_22025678_ChIP-Seq_K562_Human1.66985828
57* POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.66535637
58* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.65641582
59MYC_19079543_ChIP-ChIP_MESCs_Mouse1.64679353
60PCGF2_27294783_Chip-Seq_NPCs_Mouse1.64518138
61CTBP1_25329375_ChIP-Seq_LNCAP_Human1.63241856
62CDX2_19796622_ChIP-Seq_MESCs_Mouse1.60771743
63SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.59418968
64SUZ12_27294783_Chip-Seq_NPCs_Mouse1.58739667
65ER_23166858_ChIP-Seq_MCF-7_Human1.57387796
66EZH2_27294783_Chip-Seq_NPCs_Mouse1.57069585
67TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.54557403
68TOP2B_26459242_ChIP-Seq_MCF-7_Human1.54314841
69NELFA_20434984_ChIP-Seq_ESCs_Mouse1.52507640
70TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.50744207
71* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.50352166
72ESR1_15608294_ChIP-ChIP_MCF-7_Human1.49762126
73BCAT_22108803_ChIP-Seq_LS180_Human1.48852579
74SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.47662864
75NANOG_18555785_Chip-Seq_ESCs_Mouse1.47153328
76TCF4_23295773_ChIP-Seq_U87_Human1.46621849
77FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.45987175
78NR3C1_21868756_ChIP-Seq_MCF10A_Human1.42636739
79* HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.40933321
80AR_21909140_ChIP-Seq_LNCAP_Human1.40517641
81NFE2_27457419_Chip-Seq_LIVER_Mouse1.40096580
82TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.39347993
83ELK1_19687146_ChIP-ChIP_HELA_Human1.39070174
84CBP_20019798_ChIP-Seq_JUKART_Human1.38576491
85IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.38576491
86IRF1_19129219_ChIP-ChIP_H3396_Human1.38542440
87POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.36159517
88TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.36159517
89ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.36086104
90* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.35555447
91MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.34708231
92* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.34256667
93AR_25329375_ChIP-Seq_VCAP_Human1.34064620
94EP300_21415370_ChIP-Seq_HL-1_Mouse1.31596610
95RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.31389507
96MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.31039492
97* E2F1_18555785_Chip-Seq_ESCs_Mouse1.30115490
98CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.29230520
99TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.28333231
100RNF2_27304074_Chip-Seq_NSC_Mouse1.28328242
101E2F1_21310950_ChIP-Seq_MCF-7_Human1.27942414
102* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.26568996
103HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.25217275
104* TCF4_22108803_ChIP-Seq_LS180_Human1.25116318
105* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.25050702
106* KLF5_20875108_ChIP-Seq_MESCs_Mouse1.23070870
107TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.21280092
108P53_22387025_ChIP-Seq_ESCs_Mouse1.21219343
109VDR_21846776_ChIP-Seq_THP-1_Human1.20339406
110SUZ12_18555785_Chip-Seq_ESCs_Mouse1.20161609
111FOXM1_26456572_ChIP-Seq_MCF-7_Human1.20087570
112POU5F1_16153702_ChIP-ChIP_HESCs_Human1.19470066
113CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.19012559
114RUNX2_22187159_ChIP-Seq_PCA_Human1.18560625
115NANOG_19829295_ChIP-Seq_ESCs_Human1.18355800
116SOX2_19829295_ChIP-Seq_ESCs_Human1.18355800
117CRX_20693478_ChIP-Seq_RETINA_Mouse1.17888980
118TP53_16413492_ChIP-PET_HCT116_Human1.17325527
119* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.17281526
120PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.17262212
121CMYC_18555785_Chip-Seq_ESCs_Mouse1.15207716
122TP63_19390658_ChIP-ChIP_HaCaT_Human1.15118137
123FLI1_21867929_ChIP-Seq_TH2_Mouse1.15072717
124TCF7_22412390_ChIP-Seq_EML_Mouse1.14953725
125SMAD4_21741376_ChIP-Seq_EPCs_Human1.13302299
126TAL1_26923725_Chip-Seq_HPCs_Mouse1.12889648
127MAF_26560356_Chip-Seq_TH1_Human1.11454896
128CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.09558291
129NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.08439762
130NRF2_20460467_ChIP-Seq_MEFs_Mouse1.08439762
131* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.07081414
132OCT4_18555785_Chip-Seq_ESCs_Mouse1.05935966
133TBX20_22328084_ChIP-Seq_HEART_Mouse1.05883343
134TBX20_22080862_ChIP-Seq_HEART_Mouse1.05883343
135PRDM14_20953172_ChIP-Seq_ESCs_Human1.05342806
136OCT4_21477851_ChIP-Seq_ESCs_Mouse1.04757618
137* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04749378
138TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04392197
139XRN2_22483619_ChIP-Seq_HELA_Human1.04295047
140* HIF1A_21447827_ChIP-Seq_MCF-7_Human1.04101374
141* SOX2_21211035_ChIP-Seq_LN229_Gbm1.04091714
142CIITA_25753668_ChIP-Seq_RAJI_Human1.03908335
143BRD4_27068464_Chip-Seq_AML-cells_Mouse1.03589454
144CDX2_22108803_ChIP-Seq_LS180_Human1.03527471
145GATA4_21415370_ChIP-Seq_HL-1_Mouse1.03166107
146STAT3_18555785_Chip-Seq_ESCs_Mouse1.02930752
147SMAD_19615063_ChIP-ChIP_OVARY_Human1.02734090
148* P300_18555785_Chip-Seq_ESCs_Mouse1.02462483
149UTX_26944678_Chip-Seq_JUKART_Human1.00800247
150MYCN_18555785_ChIP-Seq_MESCs_Mouse0.99737263
151* KLF4_18555785_ChIP-Seq_MESCs_Mouse0.97784705
152RBPJ_22232070_ChIP-Seq_NCS_Mouse0.97065068
153ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.96928081
154* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.96109647
155SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.95269795
156NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.95178726
157RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92844298
158POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.92803484
159ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.91493989
160NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.91486297
161BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.90516985
162* NANOG_18555785_ChIP-Seq_MESCs_Mouse0.90492907
163* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.90115810
164KDM5A_27292631_Chip-Seq_BREAST_Human0.88454130
165SCL_19346495_ChIP-Seq_HPC-7_Human0.87526561
166FOXP3_21729870_ChIP-Seq_TREG_Human0.87362545
167IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.87165659
168KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.86070247
169STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.85828324
170GATA1_22383799_ChIP-Seq_G1ME_Mouse0.84617112
171KDM2B_26808549_Chip-Seq_DND41_Human0.83760003
172MYB_26560356_Chip-Seq_TH1_Human0.83631040
173* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.83583192
174KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.83043491
175* MYB_21317192_ChIP-Seq_ERMYB_Mouse0.82436476
176TCF3_18692474_ChIP-Seq_MEFs_Mouse0.81534063
177MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.81079123
178* ERG_20887958_ChIP-Seq_HPC-7_Mouse0.80151755
179* ATF3_27146783_Chip-Seq_COLON_Human0.80150135
180NANOG_21062744_ChIP-ChIP_HESCs_Human0.78518828
181* NCOR1_26117541_ChIP-Seq_K562_Human0.78378533
182MYB_26560356_Chip-Seq_TH2_Human0.77928694
183GATA2_22383799_ChIP-Seq_G1ME_Mouse0.77862203
184PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.77185637
185CREB1_15753290_ChIP-ChIP_HEK293T_Human0.76625674
186FOXA2_19822575_ChIP-Seq_HepG2_Human0.74729801
187SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.74682154
188TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.74219239
189SOX2_18555785_ChIP-Seq_MESCs_Mouse0.74169730
190GATA6_25053715_ChIP-Seq_YYC3_Human0.74061899
191HNF4A_19822575_ChIP-Seq_HepG2_Human0.73270370
192HOXB4_20404135_ChIP-ChIP_EML_Mouse0.72173324
193ELK3_25401928_ChIP-Seq_HUVEC_Human0.71890988

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system5.22742147
2MP0005360_urolithiasis4.46132022
3MP0005085_abnormal_gallbladder_physiolo4.35533762
4MP0002102_abnormal_ear_morphology4.28156859
5MP0005365_abnormal_bile_salt3.89861679
6MP0003806_abnormal_nucleotide_metabolis3.57439665
7MP0004145_abnormal_muscle_electrophysio3.42985772
8MP0004084_abnormal_cardiac_muscle3.22616946
9MP0002837_dystrophic_cardiac_calcinosis3.13025791
10MP0003890_abnormal_embryonic-extraembry3.06996113
11MP0008875_abnormal_xenobiotic_pharmacok2.53106387
12MP0003646_muscle_fatigue2.52736040
13MP0008877_abnormal_DNA_methylation2.50400024
14MP0003252_abnormal_bile_duct2.43422942
15MP0000569_abnormal_digit_pigmentation2.39181990
16MP0010329_abnormal_lipoprotein_level2.32728850
17MP0003705_abnormal_hypodermis_morpholog2.30640224
18MP0004130_abnormal_muscle_cell2.30485942
19MP0003937_abnormal_limbs/digits/tail_de2.17850794
20MP0004036_abnormal_muscle_relaxation2.17296212
21MP0005330_cardiomyopathy2.16373652
22MP0005083_abnormal_biliary_tract2.12467159
23MP0004510_myositis2.08282920
24MP0003787_abnormal_imprinting2.04912069
25MP0004215_abnormal_myocardial_fiber2.04222096
26MP0009840_abnormal_foam_cell2.01776752
27MP0003122_maternal_imprinting1.98526198
28MP0003221_abnormal_cardiomyocyte_apopto1.95760390
29MP0008057_abnormal_DNA_replication1.90843902
30MP0006072_abnormal_retinal_apoptosis1.90239363
31MP0003121_genomic_imprinting1.87348754
32MP0001984_abnormal_olfaction1.82365877
33MP0010630_abnormal_cardiac_muscle1.81800096
34MP0005666_abnormal_adipose_tissue1.79645990
35MP0005248_abnormal_Harderian_gland1.77581203
36MP0000609_abnormal_liver_physiology1.73787134
37MP0004185_abnormal_adipocyte_glucose1.73227860
38MP0003191_abnormal_cellular_cholesterol1.72234136
39MP0008775_abnormal_heart_ventricle1.71701007
40MP0003567_abnormal_fetal_cardiomyocyte1.69979431
41MP0003950_abnormal_plasma_membrane1.69522003
42MP0001666_abnormal_nutrient_absorption1.67054584
43MP0006036_abnormal_mitochondrial_physio1.66398428
44MP0004087_abnormal_muscle_fiber1.66339488
45MP0005187_abnormal_penis_morphology1.64002693
46MP0002938_white_spotting1.58257091
47MP0005332_abnormal_amino_acid1.55740723
48MP0005385_cardiovascular_system_phenoty1.55652820
49MP0001544_abnormal_cardiovascular_syste1.55652820
50MP0005670_abnormal_white_adipose1.55481408
51MP0005253_abnormal_eye_physiology1.55368218
52MP0000751_myopathy1.54718290
53MP0003941_abnormal_skin_development1.50231470
54MP0005319_abnormal_enzyme/_coenzyme1.48872214
55MP0002972_abnormal_cardiac_muscle1.48665807
56MP0003119_abnormal_digestive_system1.44291060
57MP0001529_abnormal_vocalization1.43342535
58MP0002269_muscular_atrophy1.39281283
59MP0002118_abnormal_lipid_homeostasis1.38438143
60MP0000749_muscle_degeneration1.36985762
61MP0005551_abnormal_eye_electrophysiolog1.36328329
62MP0002822_catalepsy1.35611770
63MP0010352_gastrointestinal_tract_polyps1.34062808
64MP0010234_abnormal_vibrissa_follicle1.27914694
65MP0002638_abnormal_pupillary_reflex1.27709740
66MP0000383_abnormal_hair_follicle1.25587445
67MP0006292_abnormal_olfactory_placode1.25225352
68MP0001293_anophthalmia1.22865574
69MP0000516_abnormal_urinary_system1.22621204
70MP0005367_renal/urinary_system_phenotyp1.22621204
71MP0004142_abnormal_muscle_tone1.22483495
72MP0002233_abnormal_nose_morphology1.21723234
73MP0001286_abnormal_eye_development1.21063493
74MP0003868_abnormal_feces_composition1.20209897
75MP0006138_congestive_heart_failure1.18403122
76MP0008995_early_reproductive_senescence1.17924123
77MP0002009_preneoplasia1.17139658
78MP0003828_pulmonary_edema1.16651884
79MP0002396_abnormal_hematopoietic_system1.15757833
80MP0002751_abnormal_autonomic_nervous1.13808278
81MP0000598_abnormal_liver_morphology1.13055595
82MP0008058_abnormal_DNA_repair1.13016179
83MP0006054_spinal_hemorrhage1.12439829
84MP0005451_abnormal_body_composition1.11253633
85MP0010094_abnormal_chromosome_stability1.10985708
86MP0005620_abnormal_muscle_contractility1.10982910
87MP0005584_abnormal_enzyme/coenzyme_acti1.09526571
88MP0000631_abnormal_neuroendocrine_gland1.09431885
89MP0006035_abnormal_mitochondrial_morpho1.07025895
90MP0002106_abnormal_muscle_physiology1.06755003
91MP0000427_abnormal_hair_cycle1.06053355
92MP0010678_abnormal_skin_adnexa1.05951683
93MP0000647_abnormal_sebaceous_gland1.04911944
94MP0005266_abnormal_metabolism1.04007127
95MP0005499_abnormal_olfactory_system1.02748698
96MP0005394_taste/olfaction_phenotype1.02748698
97MP0003880_abnormal_central_pattern1.02686118
98MP0010307_abnormal_tumor_latency1.02493662
99MP0002138_abnormal_hepatobiliary_system1.02054692
100MP0002697_abnormal_eye_size1.00470355
101MP0002088_abnormal_embryonic_growth/wei1.00465424
102MP0002234_abnormal_pharynx_morphology0.99678096
103MP0000747_muscle_weakness0.98673541
104MP0003984_embryonic_growth_retardation0.98279492
105MP0003566_abnormal_cell_adhesion0.97251827
106MP0004484_altered_response_of0.97092782
107MP0009697_abnormal_copulation0.95262051
108MP0003385_abnormal_body_wall0.94205872
109MP0000372_irregular_coat_pigmentation0.94149539
110MP0005375_adipose_tissue_phenotype0.94139264
111MP0003935_abnormal_craniofacial_develop0.91725090
112MP0002127_abnormal_cardiovascular_syste0.91353537
113MP0001730_embryonic_growth_arrest0.91206722
114MP0000750_abnormal_muscle_regeneration0.90669133
115MP0003137_abnormal_impulse_conducting0.90063259
116MP0006276_abnormal_autonomic_nervous0.89373641
117MP0001764_abnormal_homeostasis0.89162315
118MP0009763_increased_sensitivity_to0.87937362
119MP0000266_abnormal_heart_morphology0.87528618
120MP0004043_abnormal_pH_regulation0.86462548
121MP0002084_abnormal_developmental_patter0.86274087
122MP0003186_abnormal_redox_activity0.85451746
123MP0010368_abnormal_lymphatic_system0.84647112
124MP0005380_embryogenesis_phenotype0.84128846
125MP0001672_abnormal_embryogenesis/_devel0.84128846
126MP0002971_abnormal_brown_adipose0.83253343
127MP0002166_altered_tumor_susceptibility0.83158327
128MP0003656_abnormal_erythrocyte_physiolo0.82863634
129MP0009250_abnormal_appendicular_skeleto0.82327832
130MP0001485_abnormal_pinna_reflex0.82306729
131MP0002086_abnormal_extraembryonic_tissu0.81892120
132MP0003718_maternal_effect0.81642280
133MP0003077_abnormal_cell_cycle0.81356464
134MP0009672_abnormal_birth_weight0.80872433
135MP0005645_abnormal_hypothalamus_physiol0.80252189
136MP0002109_abnormal_limb_morphology0.79643830
137MP0005646_abnormal_pituitary_gland0.78327849
138MP0004957_abnormal_blastocyst_morpholog0.77653363
139MP0004133_heterotaxia0.77421588
140MP0002160_abnormal_reproductive_system0.77107107
141MP0004197_abnormal_fetal_growth/weight/0.76467726
142MP0003755_abnormal_palate_morphology0.75312545
143MP0003763_abnormal_thymus_physiology0.74977691
144MP0004233_abnormal_muscle_weight0.74578696
145MP0001177_atelectasis0.74462796
146MP0001324_abnormal_eye_pigmentation0.74412475
147MP0001919_abnormal_reproductive_system0.73371574
148MP0009643_abnormal_urine_homeostasis0.72755422
149MP0004924_abnormal_behavior0.72231552
150MP0005386_behavior/neurological_phenoty0.72231552
151* MP0002078_abnormal_glucose_homeostasis0.72048869
152MP0003195_calcinosis0.72004542
153MP0000778_abnormal_nervous_system0.71660740
154MP0004085_abnormal_heartbeat0.70378434
155MP0009703_decreased_birth_body0.70371932
156MP0001486_abnormal_startle_reflex0.69991139
157MP0005391_vision/eye_phenotype0.69912453
158MP0005389_reproductive_system_phenotype0.69599831
159MP0002282_abnormal_trachea_morphology0.69546537
160MP0000759_abnormal_skeletal_muscle0.69075119
161MP0005195_abnormal_posterior_eye0.68540534
162MP0002128_abnormal_blood_circulation0.67822923
163MP0001697_abnormal_embryo_size0.67550699
164MP0005369_muscle_phenotype0.66422860
165MP0005334_abnormal_fat_pad0.65879251
166MP0003300_gastrointestinal_ulcer0.65206553
167MP0002970_abnormal_white_adipose0.65194483
168MP0003693_abnormal_embryo_hatching0.64376072
169MP0002080_prenatal_lethality0.64167451
170MP0003111_abnormal_nucleus_morphology0.62514379
171MP0000371_diluted_coat_color0.57630684
172MP0001915_intracranial_hemorrhage0.57489361
173MP0004808_abnormal_hematopoietic_stem0.56553589

Predicted human phenotypes

RankGene SetZ-score
1Myoglobinuria (HP:0002913)4.66855529
2Exercise-induced muscle cramps (HP:0003710)4.61321024
3Intrahepatic cholestasis (HP:0001406)4.37588895
4Deep venous thrombosis (HP:0002625)4.32642349
5Rhabdomyolysis (HP:0003201)4.30743675
6Abnormality of monocarboxylic acid metabolism (HP:0010996)4.21717337
7Hyperammonemia (HP:0001987)4.18106742
8Hypoglycemic coma (HP:0001325)4.15479525
9Sudden death (HP:0001699)4.05438861
10Hypobetalipoproteinemia (HP:0003563)3.97609305
11Ketosis (HP:0001946)3.88806160
12Abnormality of aromatic amino acid family metabolism (HP:0004338)3.82435214
13Xanthomatosis (HP:0000991)3.75930583
14Ventricular tachycardia (HP:0004756)3.57411683
15Hyperglycinuria (HP:0003108)3.51267590
16Abnormality of fatty-acid metabolism (HP:0004359)3.39087333
17Abnormality of glycine metabolism (HP:0010895)3.38863575
18Abnormality of serine family amino acid metabolism (HP:0010894)3.38863575
19Hyperglycinemia (HP:0002154)3.38751462
20Hypolipoproteinemia (HP:0010981)3.37395404
21Hyperlipoproteinemia (HP:0010980)3.37308661
22Ketoacidosis (HP:0001993)3.27935847
23Hypoalphalipoproteinemia (HP:0003233)3.24003533
24Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.15419050
25Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.15268810
26Exercise-induced myalgia (HP:0003738)3.13571235
27Pancreatic cysts (HP:0001737)3.06536126
28Abnormality of pyrimidine metabolism (HP:0004353)3.03352882
29Ragged-red muscle fibers (HP:0003200)3.03044414
30Abnormality of the renal cortex (HP:0011035)3.00815650
31Intestinal atresia (HP:0011100)3.00766115
32Abnormality of the left ventricular outflow tract (HP:0011103)2.99909904
33Subaortic stenosis (HP:0001682)2.99909904
34Abnormality of dicarboxylic acid metabolism (HP:0010995)2.98000370
35Dicarboxylic aciduria (HP:0003215)2.98000370
36Right ventricular cardiomyopathy (HP:0011663)2.96659684
37Epidermoid cyst (HP:0200040)2.91994959
38Lipoatrophy (HP:0100578)2.91218993
39Abnormality of methionine metabolism (HP:0010901)2.88212398
40Pancreatic fibrosis (HP:0100732)2.84583173
41Prolonged partial thromboplastin time (HP:0003645)2.79794295
42Abnormality of sulfur amino acid metabolism (HP:0004339)2.75460518
43Abnormality of aspartate family amino acid metabolism (HP:0010899)2.70863135
44Abnormality of serum amino acid levels (HP:0003112)2.67205590
45Volvulus (HP:0002580)2.65777122
46Multiple enchondromatosis (HP:0005701)2.65519868
47Palpitations (HP:0001962)2.65428077
48Complement deficiency (HP:0004431)2.65163913
49True hermaphroditism (HP:0010459)2.65131775
50Atrial fibrillation (HP:0005110)2.63461047
51Spastic diplegia (HP:0001264)2.61791945
52Calf muscle hypertrophy (HP:0008981)2.56921525
53Medial flaring of the eyebrow (HP:0010747)2.55823709
54Abnormality of the phalanges of the 2nd finger (HP:0009541)2.53938720
55Hepatocellular carcinoma (HP:0001402)2.53364740
56Asymmetric septal hypertrophy (HP:0001670)2.50865743
57Dilated cardiomyopathy (HP:0001644)2.48796245
58Hyporeflexia of lower limbs (HP:0002600)2.42809156
59Primary atrial arrhythmia (HP:0001692)2.41227841
60Cupped ear (HP:0000378)2.40943454
61Abnormality of chromosome stability (HP:0003220)2.40255345
62Aplasia/Hypoplasia of the tibia (HP:0005772)2.39238332
63Supraventricular tachycardia (HP:0004755)2.38446882
64Hypercholesterolemia (HP:0003124)2.35043240
65Bifid tongue (HP:0010297)2.34828242
66Nephronophthisis (HP:0000090)2.34424330
67Cerebral edema (HP:0002181)2.33987846
68Genital tract atresia (HP:0001827)2.33845780
69Abnormality of the labia minora (HP:0012880)2.33644776
70Supraventricular arrhythmia (HP:0005115)2.33545277
71Abnormality of the renal medulla (HP:0100957)2.33216777
72Metabolic acidosis (HP:0001942)2.32046921
73Ependymoma (HP:0002888)2.31835668
74Papillary thyroid carcinoma (HP:0002895)2.31145300
75Vaginal atresia (HP:0000148)2.28765161
76Abnormality of the common coagulation pathway (HP:0010990)2.28345254
77Vitreoretinal degeneration (HP:0000655)2.27635023
78Reticulocytosis (HP:0001923)2.25970497
79Small intestinal stenosis (HP:0012848)2.25942099
80Duodenal stenosis (HP:0100867)2.25942099
81Abnormal gallbladder physiology (HP:0012438)2.23519852
82Cholecystitis (HP:0001082)2.23519852
83Cholelithiasis (HP:0001081)2.22153633
84Hyperbilirubinemia (HP:0002904)2.21014289
85Abnormality of glutamine family amino acid metabolism (HP:0010902)2.21006151
86Muscle hypertrophy of the lower extremities (HP:0008968)2.19498473
87Abnormality of midbrain morphology (HP:0002418)2.19326277
88Molar tooth sign on MRI (HP:0002419)2.19326277
89Disproportionate short-trunk short stature (HP:0003521)2.19245816
90Double outlet right ventricle (HP:0001719)2.17850262
91Congenital malformation of the right heart (HP:0011723)2.17850262
92Patent foramen ovale (HP:0001655)2.17729186
93Atrioventricular block (HP:0001678)2.16582691
94Abnormality of the duodenum (HP:0002246)2.16581627
95Skin nodule (HP:0200036)2.16107495
96Acanthocytosis (HP:0001927)2.15838661
97Joint hemorrhage (HP:0005261)2.15048836
98Chronic hepatic failure (HP:0100626)2.14231205
99Abnormality of the ileum (HP:0001549)2.14066580
100Lymphangioma (HP:0100764)2.13772552
101Aplasia/Hypoplasia of the uvula (HP:0010293)2.13333561
102Nausea (HP:0002018)2.13022171
103Abnormality of the ischium (HP:0003174)2.12719775
104Abnormal cartilage morphology (HP:0002763)2.11815192
105Congenital primary aphakia (HP:0007707)2.11722203
106Adenoma sebaceum (HP:0009720)2.10339546
107Angiofibromas (HP:0010615)2.10339546
108Abnormality of the intrinsic pathway (HP:0010989)2.08768089
109Hyperinsulinemic hypoglycemia (HP:0000825)2.08563588
110Late onset (HP:0003584)2.07361076
111Meckel diverticulum (HP:0002245)2.07348932
112Abnormality of nucleobase metabolism (HP:0010932)2.07238796
113Abnormal pancreas size (HP:0012094)2.05597838
114Delayed CNS myelination (HP:0002188)2.04954230
115Ventricular arrhythmia (HP:0004308)2.04737019
116Increased connective tissue (HP:0009025)2.04006305
117Poor coordination (HP:0002370)2.03755155
118Pancreatic islet-cell hyperplasia (HP:0004510)2.03320025
119Embryonal renal neoplasm (HP:0011794)2.03139905
120Abnormality of the phalanges of the 5th finger (HP:0004213)2.02816316
121Oligodactyly (hands) (HP:0001180)2.02563393
122Conjunctival hamartoma (HP:0100780)2.02204313
123Gait imbalance (HP:0002141)2.01840488
124Abnormal gallbladder morphology (HP:0012437)2.01826192
125Abnormality of the pubic bones (HP:0003172)2.01227397
126Lethargy (HP:0001254)2.01134419
127Short tibia (HP:0005736)2.00898525
128Fat malabsorption (HP:0002630)2.00457062
129Increased muscle lipid content (HP:0009058)2.00267343
130Nephrogenic diabetes insipidus (HP:0009806)1.98340801
131Syncope (HP:0001279)1.97408775
132Tubulointerstitial nephritis (HP:0001970)1.97379738
133Aqueductal stenosis (HP:0002410)1.95700110
134Myelomeningocele (HP:0002475)1.95675675
135Esophageal varix (HP:0002040)1.94656940
136Absent eyebrow (HP:0002223)1.94030189
137Abnormality of complement system (HP:0005339)1.93547337
138Abnormality of the calf musculature (HP:0001430)1.92456774
139Labial hypoplasia (HP:0000066)1.90428907
140Aplasia/Hypoplasia of the sternum (HP:0006714)1.89859301
141Hepatic necrosis (HP:0002605)1.89677922
142Abnormality of glycolysis (HP:0004366)1.89599794
143Increased serum pyruvate (HP:0003542)1.89599794
144Hypoglycemic seizures (HP:0002173)1.89179021
145Renal cortical cysts (HP:0000803)1.88576001
146Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.87979882
147Proximal tubulopathy (HP:0000114)1.87899679
148Small hand (HP:0200055)1.87478197
149Abnormality of endocrine pancreas physiology (HP:0012093)1.87098685
150Abnormality of the pancreatic islet cells (HP:0006476)1.87098685
151Chorioretinal atrophy (HP:0000533)1.86847997
152Enlarged kidneys (HP:0000105)1.86525352
153Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.85889224
154Neoplasm of the adrenal gland (HP:0100631)1.85566893
155Sloping forehead (HP:0000340)1.84338224
156Gaze-evoked nystagmus (HP:0000640)1.83583291
157Chromsome breakage (HP:0040012)1.83571573
158Abnormality of reticulocytes (HP:0004312)1.82258367
159Fair hair (HP:0002286)1.81919172
160EMG: myopathic abnormalities (HP:0003458)1.81766171
161Anophthalmia (HP:0000528)1.81158901
162Abnormal biliary tract morphology (HP:0012440)1.81150056
163Hypoplastic pelvis (HP:0008839)1.80302606
164Abnormal lung lobation (HP:0002101)1.78103479
165Postaxial foot polydactyly (HP:0001830)1.77959710
166Delayed puberty (HP:0000823)1.77285279
167Thyroid carcinoma (HP:0002890)1.76414316
168Colon cancer (HP:0003003)1.76259726
169Renal hypoplasia (HP:0000089)1.76103461
170Drooling (HP:0002307)1.75735624
171Hip dysplasia (HP:0001385)1.73948684
172Left ventricular hypertrophy (HP:0001712)1.73784999
173Hypoplastic female external genitalia (HP:0012815)1.72636787
174Narrow forehead (HP:0000341)1.71857887
175Abnormality of the preputium (HP:0100587)1.71742865
176Rhabdomyosarcoma (HP:0002859)1.70813887
177Chromosomal breakage induced by crosslinking agents (HP:0003221)1.70804985
178Aplasia/Hypoplasia of the tongue (HP:0010295)1.70764088
179Hepatoblastoma (HP:0002884)1.70652479
180Bundle branch block (HP:0011710)1.70457092
181Hypoplastic iliac wings (HP:0002866)1.70383729
182Preaxial foot polydactyly (HP:0001841)1.67715516
183Nephroblastoma (Wilms tumor) (HP:0002667)1.67010608
184Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)1.66816431
185Absent radius (HP:0003974)1.66105195

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK4.60146903
2FRK3.98973322
3TRIB33.47726580
4BMPR1B3.38499655
5EEF2K3.14298922
6TNIK3.12625064
7* PKN23.10439761
8NEK12.97298264
9TTN2.82672682
10MAP4K22.58988189
11OBSCN2.57392977
12WNK32.38872314
13MAP3K102.27154173
14PDK32.25990685
15PDK42.25990685
16TRIM282.25851780
17BRSK22.10581805
18FGFR42.10504286
19BCR2.03769912
20MKNK21.96890096
21SIK11.88751729
22RPS6KB21.88179694
23MAP3K41.85081478
24MAP2K31.83468639
25PASK1.71850404
26AKT31.70321906
27MKNK11.59660876
28STK41.59002788
29STK241.57958547
30NUAK11.57357335
31ERBB31.55463613
32CDK41.54848011
33MST41.53639149
34MAP4K11.53520248
35TGFBR11.51783571
36LMTK21.51694377
37CDK121.50835223
38MAPK131.41472660
39WEE11.38695515
40TGFBR21.38364496
41PLK21.37731180
42MAP3K71.37372996
43PLK41.34464468
44EIF2AK31.34412260
45CASK1.32205033
46NEK91.29645838
47PTK61.27766357
48NLK1.25654986
49TYK21.25526218
50CDC71.23438701
51MAPK111.22605256
52PDK21.17767274
53ERN11.17734805
54STK391.17160763
55NEK21.16725427
56SCYL21.15159422
57GRK11.14544827
58PLK31.13265470
59PHKG21.12436698
60PHKG11.12436698
61GRK71.09846603
62WNK41.08491355
63PINK11.08232285
64LATS11.07250006
65NME21.06876941
66RIPK11.06252110
67KDR1.05676913
68FGFR31.01620363
69STK101.01312259
70CDK61.01057476
71MAPKAPK31.00618148
72* FLT30.98329393
73CAMK1D0.96181545
74TTK0.95644918
75MYLK0.94921108
76SRPK10.94007286
77FER0.91088725
78CSNK1G10.87969948
79MAP3K80.87635664
80JAK30.85594724
81GRK60.84346264
82LRRK20.84181466
83PAK30.83855105
84ZAP700.82675456
85ZAK0.79700964
86PRKAA20.79494737
87ADRBK20.79451636
88CSNK1G20.79102807
89PDGFRA0.78553114
90INSRR0.78514096
91CAMKK20.78218409
92TAOK30.75815635
93SGK20.75637447
94PRKCE0.75127315
95MAPK120.74397076
96STK30.73475933
97ACVR1B0.73360317
98MAP2K70.72775097
99DMPK0.72507426
100PNCK0.71156978
101VRK10.70252433
102CSNK1A1L0.69757409
103MAP3K50.68275447
104JAK10.67535571
105MTOR0.67176829
106ADRBK10.66670080
107PRKD30.66005760
108TIE10.64820315
109ATR0.64646919
110MAP3K30.64590198
111CSF1R0.64227699
112PIK3CA0.63533970
113OXSR10.62963790
114ITK0.62585952
115PIM10.62291955
116CSNK1G30.61956525
117* FGFR10.61921997
118EPHA30.60215794
119EPHA40.58386797
120PRKAA10.57404129
121WNK10.54391130
122SGK4940.54107194
123SGK2230.54107194
124AURKB0.53893689
125ILK0.52897061
126DYRK20.52860787
127RPS6KA40.52481498
128STK38L0.52400629
129CAMK40.51092429
130CDK70.50104114
131AKT20.49751644
132* JAK20.49017744
133PLK10.48423098
134CAMK2A0.47779567
135ALK0.47636438
136BTK0.47400249
137CCNB10.46971323
138MAP2K40.46955472
139DAPK30.46656959
140EIF2AK10.46394134
141TLK10.45942755
142MST1R0.45238216
143BRD40.44589251
144MAP2K60.44286066
145ATM0.43918292
146PAK20.42606502
147TRPM70.42331175
148DYRK30.42222096
149NTRK20.41464962
150MELK0.41218547
151MARK30.40918268
152CSNK1D0.40306972
153PAK40.40020388
154TEC0.39722110
155CAMK10.39135877
156MET0.39049299
157TBK10.35619760
158CDK90.34910053
159MAPKAPK50.34708119
160FGFR20.34349357
161CHEK10.33327376
162RPS6KC10.33044173
163RPS6KL10.33044173
164SIK30.32818898
165BUB10.32579330
166TXK0.32206200
167ERBB20.31663449
168RPS6KB10.31617029
169TSSK60.31302531
170PRKG10.30091040
171BRSK10.29425526
172CAMK1G0.29335080
173PRKD10.29168812

Predicted pathways (KEGG)

RankGene SetZ-score
1Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.56279051
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.38383506
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.17948402
4Fatty acid degradation_Homo sapiens_hsa000713.16700803
5Primary bile acid biosynthesis_Homo sapiens_hsa001202.92229350
6Propanoate metabolism_Homo sapiens_hsa006402.91484700
7Protein export_Homo sapiens_hsa030602.84490060
8Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.74741724
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.73914246
10Steroid biosynthesis_Homo sapiens_hsa001002.72563590
11Nitrogen metabolism_Homo sapiens_hsa009102.67316526
12Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.53063235
13Arginine biosynthesis_Homo sapiens_hsa002202.51706131
14Carbon metabolism_Homo sapiens_hsa012002.46388205
15Fanconi anemia pathway_Homo sapiens_hsa034602.37329707
16Fatty acid metabolism_Homo sapiens_hsa012122.28835110
17Biosynthesis of amino acids_Homo sapiens_hsa012302.25707605
18Tryptophan metabolism_Homo sapiens_hsa003802.13064852
19Homologous recombination_Homo sapiens_hsa034402.07733075
20TGF-beta signaling pathway_Homo sapiens_hsa043502.04244435
21Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.01884017
22Basal transcription factors_Homo sapiens_hsa030222.00860871
23Pyruvate metabolism_Homo sapiens_hsa006201.99838802
24Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.98823656
25Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.96713436
26Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.90724422
27One carbon pool by folate_Homo sapiens_hsa006701.86648622
28PPAR signaling pathway_Homo sapiens_hsa033201.75020808
29Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.72286894
30Selenocompound metabolism_Homo sapiens_hsa004501.69551720
31Butanoate metabolism_Homo sapiens_hsa006501.68668725
32Hedgehog signaling pathway_Homo sapiens_hsa043401.61883407
33Starch and sucrose metabolism_Homo sapiens_hsa005001.54082572
34Peroxisome_Homo sapiens_hsa041461.53412286
35Phototransduction_Homo sapiens_hsa047441.52274797
36Complement and coagulation cascades_Homo sapiens_hsa046101.51935906
37Circadian rhythm_Homo sapiens_hsa047101.51756988
38Pentose and glucuronate interconversions_Homo sapiens_hsa000401.48798191
39Drug metabolism - other enzymes_Homo sapiens_hsa009831.48437604
40Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.46223119
41beta-Alanine metabolism_Homo sapiens_hsa004101.46054032
42Lysine degradation_Homo sapiens_hsa003101.42717847
43Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.40962335
44Cysteine and methionine metabolism_Homo sapiens_hsa002701.38612076
45Nicotine addiction_Homo sapiens_hsa050331.38382045
46Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.37147866
47Taste transduction_Homo sapiens_hsa047421.35784518
48Olfactory transduction_Homo sapiens_hsa047401.24400586
49Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.20263457
50Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.18262528
51Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.13141401
52Pentose phosphate pathway_Homo sapiens_hsa000301.12872811
53Hippo signaling pathway_Homo sapiens_hsa043901.10848833
54Phenylalanine metabolism_Homo sapiens_hsa003601.10521528
55Caffeine metabolism_Homo sapiens_hsa002321.10421177
56Chemical carcinogenesis_Homo sapiens_hsa052041.06756988
57Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.04162340
58Basal cell carcinoma_Homo sapiens_hsa052171.03783940
59alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.03093742
60Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.01149450
61Regulation of autophagy_Homo sapiens_hsa041400.98363712
62Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.98248398
63Fat digestion and absorption_Homo sapiens_hsa049750.98140392
64Tyrosine metabolism_Homo sapiens_hsa003500.97223556
65Cyanoamino acid metabolism_Homo sapiens_hsa004600.96814846
66Staphylococcus aureus infection_Homo sapiens_hsa051500.96034266
67Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.96016539
68Maturity onset diabetes of the young_Homo sapiens_hsa049500.95508426
69Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.94755373
70Bile secretion_Homo sapiens_hsa049760.93221934
71mRNA surveillance pathway_Homo sapiens_hsa030150.91552125
72Fatty acid elongation_Homo sapiens_hsa000620.90332930
73Ether lipid metabolism_Homo sapiens_hsa005650.89886453
74Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.88904223
75Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.88262486
76Fatty acid biosynthesis_Homo sapiens_hsa000610.87313507
77Sulfur relay system_Homo sapiens_hsa041220.86073548
78Galactose metabolism_Homo sapiens_hsa000520.84538403
79DNA replication_Homo sapiens_hsa030300.84492298
80Insulin resistance_Homo sapiens_hsa049310.82761687
81Arginine and proline metabolism_Homo sapiens_hsa003300.80198490
82* Central carbon metabolism in cancer_Homo sapiens_hsa052300.80138569
83Retinol metabolism_Homo sapiens_hsa008300.79759035
84Wnt signaling pathway_Homo sapiens_hsa043100.78373884
85Folate biosynthesis_Homo sapiens_hsa007900.78294439
86Linoleic acid metabolism_Homo sapiens_hsa005910.77421361
87Adherens junction_Homo sapiens_hsa045200.76554394
88Mismatch repair_Homo sapiens_hsa034300.76340038
89Steroid hormone biosynthesis_Homo sapiens_hsa001400.75244172
90Oocyte meiosis_Homo sapiens_hsa041140.74557761
91Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.73879123
92ABC transporters_Homo sapiens_hsa020100.72688045
93Glucagon signaling pathway_Homo sapiens_hsa049220.68699795
94Histidine metabolism_Homo sapiens_hsa003400.65766321
95Purine metabolism_Homo sapiens_hsa002300.65705907
96Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.65614156
97Adipocytokine signaling pathway_Homo sapiens_hsa049200.64713245
98RNA polymerase_Homo sapiens_hsa030200.64379529
99Alcoholism_Homo sapiens_hsa050340.63629954
100Circadian entrainment_Homo sapiens_hsa047130.63497704
101Morphine addiction_Homo sapiens_hsa050320.63396266
102Dorso-ventral axis formation_Homo sapiens_hsa043200.63034788
103Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.61614786
104Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.59841529
105Serotonergic synapse_Homo sapiens_hsa047260.58695382
106Fructose and mannose metabolism_Homo sapiens_hsa000510.58470398
107Glycerolipid metabolism_Homo sapiens_hsa005610.58226956
108Systemic lupus erythematosus_Homo sapiens_hsa053220.57752754
109Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.57048232
110Calcium signaling pathway_Homo sapiens_hsa040200.55038987
111GABAergic synapse_Homo sapiens_hsa047270.54153362
112Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.53043188
113Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.51904345
114Insulin signaling pathway_Homo sapiens_hsa049100.51270637
115Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.49606891
116Ovarian steroidogenesis_Homo sapiens_hsa049130.48382805
117AMPK signaling pathway_Homo sapiens_hsa041520.48195346
118Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.48008539
119Dilated cardiomyopathy_Homo sapiens_hsa054140.47841908
120N-Glycan biosynthesis_Homo sapiens_hsa005100.47546120
121Colorectal cancer_Homo sapiens_hsa052100.46690459
122Insulin secretion_Homo sapiens_hsa049110.46540513
123Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.46503882
124Glycerophospholipid metabolism_Homo sapiens_hsa005640.45816945
125Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.45326504
126cGMP-PKG signaling pathway_Homo sapiens_hsa040220.40826151
127Melanoma_Homo sapiens_hsa052180.39958766
128Glutamatergic synapse_Homo sapiens_hsa047240.39016443
129Cardiac muscle contraction_Homo sapiens_hsa042600.38524302
130p53 signaling pathway_Homo sapiens_hsa041150.37697957
131cAMP signaling pathway_Homo sapiens_hsa040240.36578045
132Ribosome_Homo sapiens_hsa030100.36527757
133Viral myocarditis_Homo sapiens_hsa054160.34355376
134* HIF-1 signaling pathway_Homo sapiens_hsa040660.32917869
135Metabolic pathways_Homo sapiens_hsa011000.32720002
136Glutathione metabolism_Homo sapiens_hsa004800.29234986
137Sulfur metabolism_Homo sapiens_hsa009200.27869559
138Thyroid cancer_Homo sapiens_hsa052160.27162799
139mTOR signaling pathway_Homo sapiens_hsa041500.23413054
140Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.19242323
141Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.19110427
142RNA transport_Homo sapiens_hsa030130.18468525
143Non-homologous end-joining_Homo sapiens_hsa034500.18154545
144Acute myeloid leukemia_Homo sapiens_hsa052210.15699225
145Base excision repair_Homo sapiens_hsa034100.14012547
146Nucleotide excision repair_Homo sapiens_hsa034200.13976386
147RNA degradation_Homo sapiens_hsa030180.13849638
148Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.13244357
149Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.12337924
150Primary immunodeficiency_Homo sapiens_hsa053400.11417208
151Viral carcinogenesis_Homo sapiens_hsa052030.10048723
152Pyrimidine metabolism_Homo sapiens_hsa002400.09883936
153Cell cycle_Homo sapiens_hsa041100.07226951
154Chronic myeloid leukemia_Homo sapiens_hsa052200.06455072
155Herpes simplex infection_Homo sapiens_hsa051680.05854009
156Small cell lung cancer_Homo sapiens_hsa052220.05616406

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