PEBP4

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





Description: The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1piRNA metabolic process (GO:0034587)9.61467833
2spermatid development (GO:0007286)9.42993778
3skeletal muscle contraction (GO:0003009)9.39959200
4motile cilium assembly (GO:0044458)9.35728836
5reproduction (GO:0000003)9.12785066
6regulation of skeletal muscle contraction (GO:0014819)9.10747127
7cilium movement (GO:0003341)8.72502934
8male meiosis (GO:0007140)8.59184876
9epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)8.40781924
10regulation of relaxation of muscle (GO:1901077)8.24488575
11regulation of cilium movement (GO:0003352)8.14710183
12synaptonemal complex organization (GO:0070193)8.08627786
13synaptonemal complex assembly (GO:0007130)7.84968228
14myofibril assembly (GO:0030239)7.64030022
15striated muscle contraction (GO:0006941)7.53605386
16actin filament-based movement (GO:0030048)7.52500488
17single fertilization (GO:0007338)7.43153153
18sarcomere organization (GO:0045214)7.37135608
19positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.31549959
20sperm capacitation (GO:0048240)7.20260753
21creatine metabolic process (GO:0006600)7.06802596
22regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.89281157
23response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.77573756
24response to muscle activity (GO:0014850)6.58672276
25negative regulation of inclusion body assembly (GO:0090084)6.49709783
26fertilization (GO:0009566)6.40238593
27cardiac myofibril assembly (GO:0055003)6.25215520
28spermatogenesis (GO:0007283)6.24417791
29male gamete generation (GO:0048232)6.22169257
30cardiac muscle contraction (GO:0060048)6.19695574
31DNA methylation involved in gamete generation (GO:0043046)6.02571896
32response to inactivity (GO:0014854)5.97378515
33skeletal muscle fiber development (GO:0048741)5.86626658
34regulation of actin filament-based movement (GO:1903115)5.82221890
35male meiosis I (GO:0007141)5.73311045
36gamete generation (GO:0007276)5.71606777
37muscle contraction (GO:0006936)5.67291406
38organic cation transport (GO:0015695)5.61147222
39ventricular system development (GO:0021591)5.58983776
40regulation of cell communication by electrical coupling (GO:0010649)5.57326887
41chromosome organization involved in meiosis (GO:0070192)5.50645842
42microtubule depolymerization (GO:0007019)5.47755142
43actomyosin structure organization (GO:0031032)5.47241823
44skeletal muscle adaptation (GO:0043501)5.45086912
45regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.41078803
46germ cell development (GO:0007281)5.39274835
47cellular process involved in reproduction in multicellular organism (GO:0022412)5.37876622
48glycogen catabolic process (GO:0005980)5.31016819
49regulation of inclusion body assembly (GO:0090083)5.30644330
50myotube cell development (GO:0014904)5.30414598
51NADH metabolic process (GO:0006734)5.28893323
52negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.27463237
53cardiac muscle hypertrophy (GO:0003300)5.21274654
54plasma membrane repair (GO:0001778)5.11889880
55seminiferous tubule development (GO:0072520)5.09690215
56muscle system process (GO:0003012)5.07905757
57glucan catabolic process (GO:0009251)4.98395023
58meiotic nuclear division (GO:0007126)4.98229315
59striated muscle hypertrophy (GO:0014897)4.97170660
60calcium ion-dependent exocytosis (GO:0017156)4.96523698
61cell recognition (GO:0008037)4.90972204
62microtubule severing (GO:0051013)4.81530350
63regulation of microtubule-based movement (GO:0060632)4.79734444
64glycogen biosynthetic process (GO:0005978)4.74278801
65glucan biosynthetic process (GO:0009250)4.74278801
66muscle fiber development (GO:0048747)4.69978456
67cellular polysaccharide catabolic process (GO:0044247)4.67284765
68negative regulation of potassium ion transmembrane transport (GO:1901380)4.67161780
69meiosis I (GO:0007127)4.62673792
70regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO4.58022551
71multicellular organismal reproductive process (GO:0048609)4.49369329
72striated muscle adaptation (GO:0014888)4.45926685
73muscle hypertrophy (GO:0014896)4.44134573
74regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)4.37610430
75muscle tissue morphogenesis (GO:0060415)4.37576028
76skeletal muscle tissue development (GO:0007519)4.36888240
77regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.36340529
78regulation of striated muscle contraction (GO:0006942)4.36233679
79cardiac muscle tissue morphogenesis (GO:0055008)4.34571442
80spermatid nucleus differentiation (GO:0007289)4.33554277
81meiotic cell cycle (GO:0051321)4.33254078
82left/right pattern formation (GO:0060972)4.32378845
83adult heart development (GO:0007512)4.31888563
84polysaccharide catabolic process (GO:0000272)4.23608539
85protein localization to cilium (GO:0061512)4.19302896
86positive regulation of calcium ion transmembrane transporter activity (GO:1901021)4.15921750
87skeletal muscle tissue regeneration (GO:0043403)4.06670133
88carnitine shuttle (GO:0006853)4.06042262
892-oxoglutarate metabolic process (GO:0006103)4.03199677
90heart process (GO:0003015)4.02678241
91heart contraction (GO:0060047)4.02678241
92muscle cell cellular homeostasis (GO:0046716)3.98834713
93monoubiquitinated protein deubiquitination (GO:0035520)3.98338930
94glycerol ether metabolic process (GO:0006662)3.96325640
95regulation of the force of heart contraction (GO:0002026)3.95192412
96genitalia morphogenesis (GO:0035112)3.94485722
97cardiac muscle cell development (GO:0055013)3.93054303
98chromosome condensation (GO:0030261)3.90420123
99tricarboxylic acid cycle (GO:0006099)3.86378503
100regulation of calcium ion transmembrane transporter activity (GO:1901019)3.84668807
101regulation of calcium ion transmembrane transport (GO:1903169)3.84668807
102striated muscle cell development (GO:0055002)3.81689330
103protein polyglutamylation (GO:0018095)3.81497349
104glycogen metabolic process (GO:0005977)3.80699993
105chaperone-mediated protein complex assembly (GO:0051131)3.78155719
106DNA packaging (GO:0006323)3.75396971
107cardiac muscle hypertrophy in response to stress (GO:0014898)3.75307789
108muscle hypertrophy in response to stress (GO:0003299)3.75307789
109cardiac muscle adaptation (GO:0014887)3.75307789
110fructose metabolic process (GO:0006000)3.73382100
111regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.72930902
112cellular glucan metabolic process (GO:0006073)3.72875038
113glucan metabolic process (GO:0044042)3.72875038
114negative regulation of calcium ion transmembrane transport (GO:1903170)3.69927395
115negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.69927395
116ether metabolic process (GO:0018904)3.65826742
117multicellular organismal development (GO:0007275)3.64640220
118cardiac cell development (GO:0055006)3.64432953
119muscle adaptation (GO:0043500)3.62440450
120response to activity (GO:0014823)3.62097352
121gluconeogenesis (GO:0006094)3.61629285
122intraciliary transport (GO:0042073)3.57609884
123regulation of sequestering of triglyceride (GO:0010889)3.57601716
124muscle structure development (GO:0061061)3.53962196
125muscle cell fate commitment (GO:0042693)3.53491150
126muscle organ development (GO:0007517)3.53471953
127gene silencing by RNA (GO:0031047)3.52546932
128striated muscle atrophy (GO:0014891)3.50479886
129positive regulation of myotube differentiation (GO:0010831)3.48913161
130regulation of membrane repolarization (GO:0060306)3.45181609
131relaxation of muscle (GO:0090075)3.44330997
132positive regulation of cation channel activity (GO:2001259)3.43483403
133fatty acid transmembrane transport (GO:1902001)3.42512780
134negative regulation of organelle assembly (GO:1902116)3.41261551
135muscle organ morphogenesis (GO:0048644)3.41090515
136negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.34987079
137synapsis (GO:0007129)3.31759195
138membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.28473038
139regulation of muscle system process (GO:0090257)3.28273681
140muscle cell development (GO:0055001)3.27956865
141amino-acid betaine transport (GO:0015838)3.27900449
142carnitine transport (GO:0015879)3.27900449
143axoneme assembly (GO:0035082)3.27801992
144microtubule-based movement (GO:0007018)3.27466621
145meiotic cell cycle process (GO:1903046)3.23924366
146carnitine transmembrane transport (GO:1902603)3.23291497
147regulation of muscle contraction (GO:0006937)3.22631616
148negative regulation of muscle contraction (GO:0045932)3.22021866
149hexose biosynthetic process (GO:0019319)3.21490991
150myoblast fusion (GO:0007520)3.21145648
151lactate metabolic process (GO:0006089)3.18127941
152nucleoside diphosphate phosphorylation (GO:0006165)3.14716250
153regulation of ATPase activity (GO:0043462)3.14320477
154regulation of ATP catabolic process (GO:1903289)3.14320477
155muscle atrophy (GO:0014889)3.13115534
156alditol metabolic process (GO:0019400)3.12483889
157regulation of spindle checkpoint (GO:0090231)3.11318266
158single strand break repair (GO:0000012)3.09476327
159protein K11-linked deubiquitination (GO:0035871)3.09256594
160cilium organization (GO:0044782)3.07266619
161protein refolding (GO:0042026)3.04796310
162regulation of centriole replication (GO:0046599)3.01287036
163mitotic sister chromatid cohesion (GO:0007064)2.95443004
164polyol catabolic process (GO:0046174)2.94896505
165GTP biosynthetic process (GO:0006183)2.94440297
166cilium assembly (GO:0042384)2.91535059
167sexual reproduction (GO:0019953)2.88483368
168glycolytic process (GO:0006096)2.87554754
169cellular component assembly involved in morphogenesis (GO:0010927)2.87550108
170sequestering of actin monomers (GO:0042989)2.84617877
171cilium morphogenesis (GO:0060271)2.81744219
172nucleus organization (GO:0006997)2.81398227
173microtubule polymerization or depolymerization (GO:0031109)2.77744433
174glycerol metabolic process (GO:0006071)2.73527528
175nuclear pore complex assembly (GO:0051292)2.72022531
176gene silencing (GO:0016458)2.67976976
177peptidyl-glutamic acid modification (GO:0018200)2.66219941
178centriole assembly (GO:0098534)2.65382871
179UTP biosynthetic process (GO:0006228)2.61867834
180interferon-gamma secretion (GO:0072643)2.58921173
181regulation of meiosis I (GO:0060631)2.58804797
182regulation of protein polyubiquitination (GO:1902914)2.56678999
183cilium or flagellum-dependent cell motility (GO:0001539)13.6663516
184fusion of sperm to egg plasma membrane (GO:0007342)13.1839591
185sperm motility (GO:0030317)13.0210380
186actin-myosin filament sliding (GO:0033275)12.3407942
187muscle filament sliding (GO:0030049)12.3407942
188acrosome assembly (GO:0001675)11.6890499
189sperm-egg recognition (GO:0035036)11.3744391
190acrosome reaction (GO:0007340)10.9761223
191multicellular organism reproduction (GO:0032504)10.9115698
192sarcoplasmic reticulum calcium ion transport (GO:0070296)10.8697415
193cell wall macromolecule catabolic process (GO:0016998)10.8309629
194cell wall macromolecule metabolic process (GO:0044036)10.8309629
195axonemal dynein complex assembly (GO:0070286)10.6653093
196binding of sperm to zona pellucida (GO:0007339)10.5151242
197cell-cell recognition (GO:0009988)10.1882809
198epithelial cilium movement (GO:0003351)10.1470716
199actin-mediated cell contraction (GO:0070252)10.1344800
200plasma membrane fusion (GO:0045026)10.0292792

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human6.49454925
2TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.83079129
3BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.29460830
4* TBX20_22080862_ChIP-Seq_HEART_Mouse3.17217220
5* TBX20_22328084_ChIP-Seq_HEART_Mouse3.17217220
6EP300_21415370_ChIP-Seq_HL-1_Mouse3.00895323
7ESR1_20079471_ChIP-ChIP_T-47D_Human2.83727253
8ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.78810944
9CDX2_19796622_ChIP-Seq_MESCs_Mouse2.78745448
10GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.76480271
11PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.63661025
12PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.60920751
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.56256187
14CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.53880474
15* EZH2_22144423_ChIP-Seq_EOC_Human2.41935159
16FLI1_27457419_Chip-Seq_LIVER_Mouse2.33388231
17CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.28626440
18MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.25416942
19CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.20903428
20ZNF274_21170338_ChIP-Seq_K562_Hela2.19384193
21ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.18504021
22STAT6_21828071_ChIP-Seq_BEAS2B_Human2.11639835
23GATA1_26923725_Chip-Seq_HPCs_Mouse2.07931766
24VDR_22108803_ChIP-Seq_LS180_Human2.06370351
25PCGF2_27294783_Chip-Seq_ESCs_Mouse2.03240684
26MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse10.9654110
27ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.91687614
28* EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.91621930
29ELK4_26923725_Chip-Seq_MESODERM_Mouse1.87719823
30E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.82407661
31BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.79258902
32ESR2_21235772_ChIP-Seq_MCF-7_Human1.76553025
33NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.74346488
34GATA4_21415370_ChIP-Seq_HL-1_Mouse1.73101388
35THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.71418043
36KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.70650379
37STAT1_17558387_ChIP-Seq_HELA_Human1.68006276
38TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.66827375
39RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.60621285
40FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.57786972
41RARG_19884340_ChIP-ChIP_MEFs_Mouse1.57204590
42PCGF2_27294783_Chip-Seq_NPCs_Mouse1.55721873
43WDR5_24793694_ChIP-Seq_LNCAP_Human1.55657531
44GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.50910307
45SOX2_22085726_ChIP-Seq_NPCs_Mouse1.48641985
46KAP1_22055183_ChIP-Seq_ESCs_Mouse1.46984462
47CBP_20019798_ChIP-Seq_JUKART_Human1.46444148
48IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.46444148
49NFE2_27457419_Chip-Seq_LIVER_Mouse1.46087629
50TAL1_26923725_Chip-Seq_HPCs_Mouse1.45603245
51GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43404385
52AR_21572438_ChIP-Seq_LNCaP_Human1.42254729
53MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.42081101
54GATA3_21867929_ChIP-Seq_CD8_Mouse1.41637322
55FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.40855357
56KDM2B_26808549_Chip-Seq_REH_Human1.40589372
57NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.38809470
58CBX2_27304074_Chip-Seq_ESCs_Mouse1.37111707
59SUZ12_27294783_Chip-Seq_NPCs_Mouse1.35431875
60* NFIB_24661679_ChIP-Seq_LUNG_Mouse1.34192194
61ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.32529127
62CTCF_27219007_Chip-Seq_Bcells_Human1.31633116
63BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.29920307
64REST_21632747_ChIP-Seq_MESCs_Mouse1.29439666
65TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.25863193
66LUZP1_20508642_ChIP-Seq_ESCs_Mouse1.23821122
67SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.22415723
68TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.22345003
69P53_21459846_ChIP-Seq_SAOS-2_Human1.22015032
70ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.21536369
71CLOCK_20551151_ChIP-Seq_293T_Human1.21312114
72FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.21308579
73PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.21296962
74FLI1_21867929_ChIP-Seq_TH2_Mouse1.20831598
75GATA3_21867929_ChIP-Seq_TH1_Mouse1.20117052
76SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.18553346
77POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.17405507
78TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17405507
79RAD21_21589869_ChIP-Seq_MESCs_Mouse1.14800194
80TRIM28_21343339_ChIP-Seq_HEK293_Human1.14774328
81MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.13814307
82CRX_20693478_ChIP-Seq_RETINA_Mouse1.13725262
83ZNF263_19887448_ChIP-Seq_K562_Human1.13700004
84NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.13457340
85CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.12722368
86STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.12223242
87NANOG_18555785_Chip-Seq_ESCs_Mouse1.10492333
88* EZH2_27294783_Chip-Seq_ESCs_Mouse1.08997947
89CTBP2_25329375_ChIP-Seq_LNCAP_Human1.08862556
90RXR_22158963_ChIP-Seq_LIVER_Mouse1.08703446
91OCT4_18555785_Chip-Seq_ESCs_Mouse1.08379467
92PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.07942968
93* DROSHA_22980978_ChIP-Seq_HELA_Human1.07797797
94RUNX1_26923725_Chip-Seq_HPCs_Mouse1.07654357
95LXR_22158963_ChIP-Seq_LIVER_Mouse1.07553113
96TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07111649
97SMC3_22415368_ChIP-Seq_MEFs_Mouse1.06344213
98* GF1_26923725_Chip-Seq_HPCs_Mouse1.05812931
99RBPJ_22232070_ChIP-Seq_NCS_Mouse1.05728332
100CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.05641084
101EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.04360823
102NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.03561750
103* RARB_27405468_Chip-Seq_BRAIN_Mouse1.03001991
104ERG_20517297_ChIP-Seq_VCAP_Human1.02630400
105P53_22387025_ChIP-Seq_ESCs_Mouse1.02587634
106PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.02514164
107MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.02432338
108PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.01614449
109RNF2_27304074_Chip-Seq_NSC_Mouse1.01455106
110EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.00988531
111SPI1_26923725_Chip-Seq_HPCs_Mouse1.00466816
112PPARA_22158963_ChIP-Seq_LIVER_Mouse1.00347239
113RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.00102617
114EZH2_27294783_Chip-Seq_NPCs_Mouse0.99741459
115ESET_19884257_ChIP-Seq_ESCs_Mouse0.99502714
116SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.99329103
117LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.98736721
118P300_18555785_Chip-Seq_ESCs_Mouse0.98358897
119OCT4_21477851_ChIP-Seq_ESCs_Mouse0.98246398
120SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.98218309
121ESR1_21235772_ChIP-Seq_MCF-7_Human0.98002718
122* CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.97835093
123ZFP57_27257070_Chip-Seq_ESCs_Mouse0.97154447
124KLF4_18555785_Chip-Seq_ESCs_Mouse0.97082169
125CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.97066680
126EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.96372408
127RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.96213355
128EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.96109881
129CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.94206052
130GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.94170502
131MYC_27129775_Chip-Seq_CORNEA_Mouse0.94088802
132CMYC_18555785_Chip-Seq_ESCs_Mouse0.93907906
133ESRRB_18555785_Chip-Seq_ESCs_Mouse0.93697971
134GBX2_23144817_ChIP-Seq_PC3_Human0.93381092
135SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.92929250
136RXRA_24833708_ChIP-Seq_LIVER_Mouse0.92597666
137MTF2_20144788_ChIP-Seq_MESCs_Mouse0.92330057
138EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.91803794
139STAT3_18555785_Chip-Seq_ESCs_Mouse0.89589494
140GATA1_19941827_ChIP-Seq_MEL_Mouse0.89504706
141NR3C1_23031785_ChIP-Seq_PC12_Mouse0.88594181
142SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.88280375
143SUZ12_18555785_Chip-Seq_ESCs_Mouse0.88122836
144PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.88065149
145NRF2_20460467_ChIP-Seq_MEFs_Mouse0.87611202
146NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.87611202
147PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.87306088
148FLI1_21867929_ChIP-Seq_CD8_Mouse0.87239313
149PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.86956166
150SOX2_21211035_ChIP-Seq_LN229_Human0.86829564
151NFYB_21822215_ChIP-Seq_K562_Human0.86739508
152LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.86368890
153* YY1_22570637_ChIP-Seq_MALME-3M_Human0.86189280
154SMAD3_21741376_ChIP-Seq_HESCs_Human0.85491187
155* RARA_24833708_ChIP-Seq_LIVER_Mouse0.85457068
156SPI1_20517297_ChIP-Seq_HL60_Human0.84278573
157* SOX2_21211035_ChIP-Seq_LN229_Gbm0.82365410
158GATA1_19941827_ChIP-Seq_MEL86_Mouse0.81638014
159STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.81443440
160SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.79916754
161SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.79486971
162CTCF_21964334_ChIP-Seq_BJAB-B_Human0.79186498
163* OCT4_20526341_ChIP-Seq_ESCs_Human0.77629429
164RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.77261818
165MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.75739995
166STAT1_20625510_ChIP-Seq_HELA_Human0.75194790
167IGF1R_20145208_ChIP-Seq_DFB_Human0.74998082
168* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.74501253
169CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.73529740
170SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.72442837
171SA1_27219007_Chip-Seq_Bcells_Human0.70639545
172JARID2_20075857_ChIP-Seq_MESCs_Mouse0.70425240
173ISL1_27105846_Chip-Seq_CPCs_Mouse0.70263831
174GATA6_21074721_ChIP-Seq_CACO-2_Human0.69853731
175SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.68881499
176EZH2_27304074_Chip-Seq_ESCs_Mouse0.68796755
177EGR1_19032775_ChIP-ChIP_M12_Human0.68489351
178HTT_18923047_ChIP-ChIP_STHdh_Human0.68192944
179RNF2_18974828_ChIP-Seq_MESCs_Mouse0.67866244
180EZH2_18974828_ChIP-Seq_MESCs_Mouse0.67866244

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio6.35083918
2MP0003698_abnormal_male_reproductive6.08292106
3MP0001929_abnormal_gametogenesis5.61389824
4MP0000749_muscle_degeneration5.51435740
5MP0008877_abnormal_DNA_methylation4.86297693
6MP0004084_abnormal_cardiac_muscle3.75642025
7MP0002210_abnormal_sex_determination3.74073603
8MP0002106_abnormal_muscle_physiology3.62848610
9MP0004087_abnormal_muscle_fiber3.47431405
10MP0000747_muscle_weakness3.39035232
11MP0000759_abnormal_skeletal_muscle3.31664074
12MP0002161_abnormal_fertility/fecundity3.29093629
13MP0005451_abnormal_body_composition3.15817407
14MP0001145_abnormal_male_reproductive3.14992802
15MP0005369_muscle_phenotype3.06232002
16MP0002653_abnormal_ependyma_morphology3.05959917
17MP0002332_abnormal_exercise_endurance3.02790304
18MP0005330_cardiomyopathy3.01940131
19MP0004130_abnormal_muscle_cell3.00545294
20MP0005620_abnormal_muscle_contractility2.91899663
21MP0000750_abnormal_muscle_regeneration2.76129562
22MP0002837_dystrophic_cardiac_calcinosis2.73674672
23MP0000653_abnormal_sex_gland2.73074329
24MP0002972_abnormal_cardiac_muscle2.46203446
25MP0004215_abnormal_myocardial_fiber2.36171626
26MP0004484_altered_response_of2.07349201
27MP0005623_abnormal_meninges_morphology2.02826395
28MP0005670_abnormal_white_adipose2.02663090
29MP0005410_abnormal_fertilization15.8067880
30MP0000733_abnormal_muscle_development1.93174871
31MP0002160_abnormal_reproductive_system1.92002266
32MP0006138_congestive_heart_failure1.88889085
33MP0004510_myositis1.88073054
34MP0010630_abnormal_cardiac_muscle1.76925177
35MP0001544_abnormal_cardiovascular_syste1.69191724
36MP0005385_cardiovascular_system_phenoty1.69191724
37MP0002127_abnormal_cardiovascular_syste1.58808300
38MP0003646_muscle_fatigue1.57260258
39MP0000013_abnormal_adipose_tissue1.44407450
40MP0008057_abnormal_DNA_replication1.39829837
41MP0005266_abnormal_metabolism1.39019342
42MP0002282_abnormal_trachea_morphology1.38426064
43MP0008775_abnormal_heart_ventricle1.27669418
44MP0003221_abnormal_cardiomyocyte_apopto1.27496529
45MP0003137_abnormal_impulse_conducting1.24916760
46MP0004270_analgesia1.24199146
47MP0008058_abnormal_DNA_repair1.24020451
48MP0004233_abnormal_muscle_weight1.14630237
49MP0005647_abnormal_sex_gland1.13370959
50MP0009046_muscle_twitch1.08467219
51MP0003011_delayed_dark_adaptation1.02845136
52MP0004185_abnormal_adipocyte_glucose1.02736923
53MP0001765_abnormal_ion_homeostasis1.02108861
54MP0010094_abnormal_chromosome_stability0.99887141
55MP0004085_abnormal_heartbeat0.98184286
56MP0005375_adipose_tissue_phenotype0.97139791
57MP0005389_reproductive_system_phenotype0.97057945
58MP0001984_abnormal_olfaction0.96605190
59MP0009780_abnormal_chondrocyte_physiolo0.92957319
60MP0003828_pulmonary_edema0.92238592
61MP0008995_early_reproductive_senescence0.91356506
62MP0000003_abnormal_adipose_tissue0.83642470
63MP0002822_catalepsy0.79318452
64MP0000569_abnormal_digit_pigmentation0.76593069
65MP0008007_abnormal_cellular_replicative0.74522300
66MP0000266_abnormal_heart_morphology0.70747114
67MP0003786_premature_aging0.69450088
68MP0003878_abnormal_ear_physiology0.67562816
69MP0005377_hearing/vestibular/ear_phenot0.67562816
70MP0002234_abnormal_pharynx_morphology0.67044130
71MP0005165_increased_susceptibility_to0.63523482
72MP0003950_abnormal_plasma_membrane0.60805262
73MP0000358_abnormal_cell_content/0.59153398
74MP0000372_irregular_coat_pigmentation0.56878260
75MP0003115_abnormal_respiratory_system0.56671523
76MP0003656_abnormal_erythrocyte_physiolo0.55354107
77MP0001545_abnormal_hematopoietic_system0.55025228
78MP0005397_hematopoietic_system_phenotyp0.55025228
79MP0002928_abnormal_bile_duct0.53725156
80MP0005636_abnormal_mineral_homeostasis0.53210563
81MP0002078_abnormal_glucose_homeostasis0.53099266
82MP0009278_abnormal_bone_marrow0.49646984
83MP0003111_abnormal_nucleus_morphology0.49196407
84MP0003699_abnormal_female_reproductive0.49097533
85MP0002638_abnormal_pupillary_reflex0.48994986
86MP0004134_abnormal_chest_morphology0.48645324
87MP0004147_increased_porphyrin_level0.48110635
88MP0005666_abnormal_adipose_tissue0.46354186
89MP0002128_abnormal_blood_circulation0.46137943
90MP0001293_anophthalmia0.46039406
91MP0005167_abnormal_blood-brain_barrier0.45225512
92MP0008569_lethality_at_weaning0.44250312
93MP0001299_abnormal_eye_distance/0.43989549
94MP0004036_abnormal_muscle_relaxation0.43850713
95MP0001324_abnormal_eye_pigmentation0.43351984
96MP0005584_abnormal_enzyme/coenzyme_acti0.42580859
97MP0003329_amyloid_beta_deposits0.41958225
98MP0010030_abnormal_orbit_morphology0.41914463
99MP0001958_emphysema0.41881748
100MP0005376_homeostasis/metabolism_phenot0.41201353
101MP0005253_abnormal_eye_physiology0.40217503
102MP0004808_abnormal_hematopoietic_stem0.39970428
103MP0005083_abnormal_biliary_tract0.39503079
104MP0001119_abnormal_female_reproductive0.39468292
105MP0010307_abnormal_tumor_latency0.38995386
106MP0005166_decreased_susceptibility_to0.38423071
107MP0004019_abnormal_vitamin_homeostasis0.38111089
108MP0005535_abnormal_body_temperature0.37948952
109MP0001764_abnormal_homeostasis0.37641516
110MP0005551_abnormal_eye_electrophysiolog0.36397938
111MP0006036_abnormal_mitochondrial_physio0.36249264
112MP0005334_abnormal_fat_pad0.35500382
113MP0005391_vision/eye_phenotype0.34748680
114MP0005332_abnormal_amino_acid0.34600887
115MP0000230_abnormal_systemic_arterial0.33490038
116MP0002971_abnormal_brown_adipose0.33396806
117MP0001730_embryonic_growth_arrest0.32827190
118MP0000762_abnormal_tongue_morphology0.32780775
119MP0004142_abnormal_muscle_tone0.31028625
120MP0002269_muscular_atrophy0.29822782
121MP0009115_abnormal_fat_cell0.29236566
122MP0005452_abnormal_adipose_tissue0.28705090
123MP0003879_abnormal_hair_cell0.28343022
124MP0009840_abnormal_foam_cell0.27375035
125MP0000343_altered_response_to0.27034327
126MP0010368_abnormal_lymphatic_system0.27026613
127MP0002896_abnormal_bone_mineralization0.26251872
128MP0005187_abnormal_penis_morphology0.25878034
129MP0003861_abnormal_nervous_system0.25873241
130MP0004133_heterotaxia0.24993953
131MP0000313_abnormal_cell_death0.24739695
132MP0001727_abnormal_embryo_implantation0.24491250
133MP0000751_myopathy0.23680098
134MP0005319_abnormal_enzyme/_coenzyme0.23446134
135MP0004811_abnormal_neuron_physiology0.23359082
136MP0001346_abnormal_lacrimal_gland0.23201267
137MP0002092_abnormal_eye_morphology0.23146322
138MP0002114_abnormal_axial_skeleton0.22894686
139MP0002736_abnormal_nociception_after0.22312649
140MP0009672_abnormal_birth_weight0.22173944
141MP0002152_abnormal_brain_morphology0.22172798
142MP0003633_abnormal_nervous_system0.21815465
143MP0001943_abnormal_respiration0.21574311
144MP0003077_abnormal_cell_cycle0.21034082
145MP0002734_abnormal_mechanical_nocicepti0.20330467
146MP0002066_abnormal_motor_capabilities/c0.20178055
147MP0002102_abnormal_ear_morphology0.19952863
148MP0009250_abnormal_appendicular_skeleto0.19258872
149MP0002118_abnormal_lipid_homeostasis0.19115473
150MP0003045_fibrosis0.18687956
151MP0002084_abnormal_developmental_patter0.18306776
152MP0000534_abnormal_ureter_morphology0.17808231
153MP0002108_abnormal_muscle_morphology0.17434210
154MP0000604_amyloidosis0.17213631
155MP0002169_no_abnormal_phenotype0.16940521
156MP0008874_decreased_physiological_sensi0.16869402
157MP0003631_nervous_system_phenotype0.16838296
158MP0001879_abnormal_lymphatic_vessel0.16806588
159MP0002873_normal_phenotype0.16682739
160MP0006072_abnormal_retinal_apoptosis0.16362190
161MP0004742_abnormal_vestibular_system0.15696460
162MP0005423_abnormal_somatic_nervous0.15108412
163MP0003787_abnormal_imprinting0.14977948
164MP0008961_abnormal_basal_metabolism0.14891500
165MP0000462_abnormal_digestive_system0.14647322
166MP0004043_abnormal_pH_regulation0.14319022
167MP0001661_extended_life_span0.14312015
168MP0001851_eye_inflammation0.14121497
169MP0003948_abnormal_gas_homeostasis0.14013247
170MP0002132_abnormal_respiratory_system0.13870560
171MP0002229_neurodegeneration0.13833001
172MP0006035_abnormal_mitochondrial_morpho0.13568901
173MP0001440_abnormal_grooming_behavior0.12879331
174MP0003942_abnormal_urinary_system0.12818505
175MP0003936_abnormal_reproductive_system0.12565060
176MP0000427_abnormal_hair_cycle0.12560214
177MP0002405_respiratory_system_inflammati0.12389401
178MP0002139_abnormal_hepatobiliary_system0.12204293

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory motile cilium physiology (HP:0012261)9.57019672
2Abnormal respiratory motile cilium morphology (HP:0005938)9.00042122
3Abnormal respiratory epithelium morphology (HP:0012253)9.00042122
4Type 1 muscle fiber predominance (HP:0003803)8.15855977
5Exercise-induced myalgia (HP:0003738)8.02016935
6Rhinitis (HP:0012384)8.00677641
7Abnormal ciliary motility (HP:0012262)7.69033099
8Exercise-induced muscle cramps (HP:0003710)7.48744766
9Chronic bronchitis (HP:0004469)7.40654928
10Infertility (HP:0000789)6.57490972
11Nasal polyposis (HP:0100582)6.51876523
12Muscle hypertrophy of the lower extremities (HP:0008968)6.36820362
13Calf muscle hypertrophy (HP:0008981)5.77785396
14EMG: myopathic abnormalities (HP:0003458)5.51958361
15Distal arthrogryposis (HP:0005684)5.49203035
16Myopathic facies (HP:0002058)5.44676066
17Abnormality of the nasal mucosa (HP:0000433)5.34726417
18Muscle fiber splitting (HP:0003555)5.14908327
19Hyporeflexia of lower limbs (HP:0002600)5.11912358
20Rhabdomyolysis (HP:0003201)4.96357242
21Myoglobinuria (HP:0002913)4.94489401
22Abnormality of the calf musculature (HP:0001430)4.91548093
23Centrally nucleated skeletal muscle fibers (HP:0003687)4.74626367
24Bronchiectasis (HP:0002110)4.64598597
25Neck muscle weakness (HP:0000467)4.62333952
26Bronchitis (HP:0012387)4.57529723
27Round ear (HP:0100830)4.54574123
28Nephronophthisis (HP:0000090)4.51133971
29Abnormality of the left ventricular outflow tract (HP:0011103)4.48438070
30Subaortic stenosis (HP:0001682)4.48438070
31Rimmed vacuoles (HP:0003805)4.39704499
32Abnormality of skeletal muscle fiber size (HP:0012084)4.28612792
33Ulnar deviation of the wrist (HP:0003049)4.28245322
34Sudden death (HP:0001699)4.26579244
35Distal lower limb muscle weakness (HP:0009053)4.03611238
36Difficulty running (HP:0009046)3.97425663
37Bundle branch block (HP:0011710)3.91501613
38Increased connective tissue (HP:0009025)3.79378425
39Male infertility (HP:0003251)3.73274714
40Calcaneovalgus deformity (HP:0001848)3.66990783
41Muscle stiffness (HP:0003552)3.63344487
42Increased variability in muscle fiber diameter (HP:0003557)3.56706557
43Frequent falls (HP:0002359)3.51786738
44Abnormality of the renal medulla (HP:0100957)3.43666402
45Recurrent sinusitis (HP:0011108)3.40532123
46Areflexia of lower limbs (HP:0002522)3.36879291
47Recurrent otitis media (HP:0000403)3.35379412
48Absent phalangeal crease (HP:0006109)3.34053468
49Myotonia (HP:0002486)3.31348712
50EMG: neuropathic changes (HP:0003445)3.27800826
51Deformed tarsal bones (HP:0008119)3.23765342
52Abnormality of the lower motor neuron (HP:0002366)3.08147989
53Abnormal spermatogenesis (HP:0008669)3.07441683
54Ventricular tachycardia (HP:0004756)3.06796592
55Dilated cardiomyopathy (HP:0001644)2.91899038
56Generalized muscle weakness (HP:0003324)2.89167941
57Tubulointerstitial nephritis (HP:0001970)2.88821555
58Mildly elevated creatine phosphokinase (HP:0008180)2.85095368
59Gonadotropin excess (HP:0000837)2.84438159
60Malignant hyperthermia (HP:0002047)2.78923762
61Abnormal finger flexion creases (HP:0006143)2.76128523
62Lipoatrophy (HP:0100578)2.69820169
63Distal lower limb amyotrophy (HP:0008944)2.68811869
64Recurrent bronchitis (HP:0002837)2.68779587
65Abnormality of midbrain morphology (HP:0002418)2.65660112
66Molar tooth sign on MRI (HP:0002419)2.65660112
67Bulbar palsy (HP:0001283)2.59374150
68Tubular atrophy (HP:0000092)2.56973843
69Scapular winging (HP:0003691)2.53539596
70Heart block (HP:0012722)2.50563424
71Tubulointerstitial abnormality (HP:0001969)2.46035027
72Medial flaring of the eyebrow (HP:0010747)2.44746238
73Amyotrophic lateral sclerosis (HP:0007354)2.42785154
74Slender build (HP:0001533)2.39895385
75Limb-girdle muscle atrophy (HP:0003797)2.38446842
76Abnormal atrioventricular conduction (HP:0005150)2.36126384
77Impulsivity (HP:0100710)2.35025464
78Weak cry (HP:0001612)2.33014847
79Hyperkalemia (HP:0002153)2.32823826
80Gowers sign (HP:0003391)2.32026348
81Progressive muscle weakness (HP:0003323)2.31677640
82Fibular hypoplasia (HP:0003038)2.29660032
83Abnormality of the foot musculature (HP:0001436)2.28100472
84Azoospermia (HP:0000027)2.23163075
85Spinal rigidity (HP:0003306)2.19237912
86Ventricular arrhythmia (HP:0004308)2.13285217
87Muscular dystrophy (HP:0003560)2.13266657
88Difficulty climbing stairs (HP:0003551)2.13113209
89Proximal amyotrophy (HP:0007126)2.12213895
90Fetal akinesia sequence (HP:0001989)2.11680716
91Postaxial foot polydactyly (HP:0001830)2.11516270
92Ragged-red muscle fibers (HP:0003200)2.10039507
93Foot dorsiflexor weakness (HP:0009027)2.08013050
94Hip contracture (HP:0003273)2.04198390
95Abnormality of the shoulder girdle musculature (HP:0001435)2.04048210
96Fatigable weakness (HP:0003473)2.03334600
97Abnormality of the neuromuscular junction (HP:0003398)2.03334600
98Lower limb amyotrophy (HP:0007210)2.03074622
99Abnormality of the calcaneus (HP:0008364)2.01182753
100Waddling gait (HP:0002515)2.00252588
101Respiratory insufficiency due to defective ciliary clearance (HP:0200073)13.7007432
102Dynein arm defect of respiratory motile cilia (HP:0012255)12.9087798
103Absent/shortened dynein arms (HP:0200106)12.9087798
104Muscle fiber inclusion bodies (HP:0100299)10.8180413
105Nemaline bodies (HP:0003798)10.6527976
106Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)10.3564392
107Hypoplasia of the capital femoral epiphysis (HP:0003090)1.99947683
108Impaired proprioception (HP:0010831)1.98575252
109Tubulointerstitial fibrosis (HP:0005576)1.97541779
110Stage 5 chronic kidney disease (HP:0003774)1.95780801
111Congenital hepatic fibrosis (HP:0002612)1.89611790
112Exercise intolerance (HP:0003546)1.87135120
113Absent frontal sinuses (HP:0002688)1.83951704
114Abnormality of the renal cortex (HP:0011035)1.83311638
115Short ribs (HP:0000773)1.82105820
116Respiratory insufficiency due to muscle weakness (HP:0002747)1.81424202
117Atrial fibrillation (HP:0005110)1.81320960
118Cholecystitis (HP:0001082)1.79367708
119Abnormal gallbladder physiology (HP:0012438)1.79367708
120Abnormal drinking behavior (HP:0030082)1.79179086
121Polydipsia (HP:0001959)1.79179086
122Spastic tetraparesis (HP:0001285)1.77747720
123Abnormality of permanent molar morphology (HP:0011071)1.74642767
124Abnormality of the dental root (HP:0006486)1.74642767
125Taurodontia (HP:0000679)1.74642767
126J-shaped sella turcica (HP:0002680)1.73583936
127Oculomotor apraxia (HP:0000657)1.72915465
128Microglossia (HP:0000171)1.71332109
129Renal dysplasia (HP:0000110)1.71093515
130Upper motor neuron abnormality (HP:0002127)1.69803227
131Ventricular fibrillation (HP:0001663)1.67363308
132Atrioventricular block (HP:0001678)1.66457021
133Increased intramyocellular lipid droplets (HP:0012240)1.65801219
134Abnormality of dentin (HP:0010299)1.65267501
135Abnormality of the musculature of the pelvis (HP:0001469)1.65234343
136Abnormality of the hip-girdle musculature (HP:0001445)1.65234343
137Primary atrial arrhythmia (HP:0001692)1.64392341
138Limb-girdle muscle weakness (HP:0003325)1.62786046
139Abnormality of molar (HP:0011077)1.62741044
140Abnormality of molar morphology (HP:0011070)1.62741044
141Syncope (HP:0001279)1.62508420
142Facial diplegia (HP:0001349)1.61005024
143Abnormality of renal excretion (HP:0011036)1.60026741
144Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.59639410
145Absent epiphyses (HP:0010577)1.59639410
146Facial cleft (HP:0002006)1.59600341
147Chronic sinusitis (HP:0011109)1.59315841
148Abnormality of the dental pulp (HP:0006479)1.58858591
149Supraventricular tachycardia (HP:0004755)1.58583017
150Shoulder girdle muscle weakness (HP:0003547)1.57724470
151Dyschromatopsia (HP:0007641)1.57298713
152Pelvic girdle muscle weakness (HP:0003749)1.57064669
153Postaxial hand polydactyly (HP:0001162)1.57002821
154Nonprogressive disorder (HP:0003680)1.56793981
155Increased muscle lipid content (HP:0009058)1.55665947
156Heterotopia (HP:0002282)1.55144435
157Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.53765346
158Supraventricular arrhythmia (HP:0005115)1.53605530
159Bell-shaped thorax (HP:0001591)1.53283238
160Steppage gait (HP:0003376)1.53250010
161Oligomenorrhea (HP:0000876)1.53209197
162Abnormality of the anterior horn cell (HP:0006802)1.52154142
163Degeneration of anterior horn cells (HP:0002398)1.52154142
164Supernumerary spleens (HP:0009799)1.50348449
165Paralysis (HP:0003470)1.50347650
166Palpitations (HP:0001962)1.49007963
167Bile duct proliferation (HP:0001408)1.48510225
168Abnormal biliary tract physiology (HP:0012439)1.48510225
169Deformed sella turcica (HP:0002681)1.46496674
170Short thorax (HP:0010306)1.42528160
171Aplasia/Hypoplasia of the fibula (HP:0006492)1.42447660
172Cystic liver disease (HP:0006706)1.42059883
173Ulnar deviation of finger (HP:0009465)1.41651457
174Long clavicles (HP:0000890)1.40886621
175Aplasia/Hypoplasia of the tongue (HP:0010295)1.40642194
176Decreased central vision (HP:0007663)1.39244637
177Metatarsus adductus (HP:0001840)1.38455617
178Median cleft lip (HP:0000161)1.37852561
179Choroideremia (HP:0001139)1.36436681
180Left ventricular hypertrophy (HP:0001712)1.35931670
181Pancreatic fibrosis (HP:0100732)1.35789021
182Limited hip movement (HP:0008800)1.34177560
183Nephropathy (HP:0000112)1.31102297
184Broad distal phalanx of finger (HP:0009836)1.30657321
185Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.27029145
186Congenital primary aphakia (HP:0007707)1.26068403
187Gait imbalance (HP:0002141)1.25752977
18811 pairs of ribs (HP:0000878)1.25405144
189Aplasia/Hypoplasia of the lens (HP:0008063)1.24409645
190Short femoral neck (HP:0100864)1.23906040
191Abnormal urine output (HP:0012590)1.23652341
192Abnormality of ocular smooth pursuit (HP:0000617)1.23407952
193Pachygyria (HP:0001302)1.21744824
194Breast carcinoma (HP:0003002)1.21320151
195Cerebellar dysplasia (HP:0007033)1.17717295
196Decreased motor nerve conduction velocity (HP:0003431)1.15158874
197True hermaphroditism (HP:0010459)1.14778453
198Asymmetric septal hypertrophy (HP:0001670)1.13793599
199Vascular calcification (HP:0004934)1.13320647

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK48.89970853
2PDK38.89970853
3TTN6.51563691
4PHKG25.79688053
5PHKG15.79688053
6PDK25.77912307
7TESK15.04333271
8PRKD34.00234384
9ICK3.45128501
10PIK3CG2.63408567
11WNK42.47612327
12STK392.47046513
13PTK2B2.40695872
14PNCK2.25330254
15OBSCN10.8915781
16MAPK121.96678305
17NEK21.93058331
18STK381.63253089
19MAP2K31.60869664
20MAP3K71.59672571
21DMPK1.40705837
22MAPKAPK31.28050988
23TRPM71.26492371
24DYRK1B1.12544693
25WNK11.07656959
26MAP2K41.07633158
27MAPK151.04155839
28MARK11.03583342
29PDK10.99215689
30NME10.98374740
31NEK10.94553251
32LIMK10.93693855
33CCNB10.93274639
34PRKAA20.89657181
35TYRO30.89467312
36PASK0.88154525
37CAMK2G0.87253856
38STK30.86794108
39MOS0.85497897
40MYLK0.83918998
41NEK90.79518255
42DYRK30.79378766
43MAP3K130.73329509
44TTK0.73189416
45ERBB30.69720115
46IRAK10.69469019
47CAMK40.66923201
48MAPK70.66355509
49CDC70.65473817
50RIPK10.65304234
51CAMK2D0.65182496
52TIE10.64424818
53AKT20.63015602
54WEE10.60588017
55LMTK20.59982768
56PINK10.59586868
57STK38L0.59547638
58MAPK40.57263411
59PIK3CA0.56224934
60CHEK20.54051109
61ROCK10.52089786
62BCKDK0.51915177
63TRIB30.50371002
64CAMK10.49408077
65CAMK1G0.48007086
66CHEK10.47684459
67CAMK2B0.46792358
68MAP2K10.45752206
69ATR0.44962488
70PDPK10.44354719
71EEF2K0.44115317
72KSR20.43535687
73MAP2K60.42296670
74SGK30.42193382
75PRKD10.41336041
76MAPK110.41230859
77EPHB10.40276437
78TESK20.38843674
79EPHA30.38337691
80PRKACA0.37908141
81LATS20.35363178
82BMPR1B0.34536677
83NTRK20.33394875
84ATM0.33308164
85SGK20.33169398
86MUSK0.30428567
87TBK10.29951467
88TGFBR20.29756710
89MAP3K60.29690642
90PAK10.28693785
91IRAK20.28515376
92MAP3K10.28474822
93RPS6KL10.27875380
94RPS6KC10.27875380
95CAMKK10.27589163
96RIPK40.27516838
97PLK40.26364124
98ARAF0.26339859
99SGK10.25165330
100MTOR0.25102061
101PRKCG0.24617087
102DAPK20.24584982
103PLK10.23995064
104PRPF4B0.23656780
105RPS6KA60.23100082
106MAPKAPK50.22353072
107PAK20.21533577
108PRKAA10.21313575
109BRSK20.20410887
110NLK0.19974508
111PAK30.19389869
112MAPK130.19062287
113RPS6KB10.18430600
114CDC42BPA0.18030778
115TAOK20.17854444
116LATS10.17795733
117MARK20.14979659
118SGK2230.14810948
119SGK4940.14810948
120NEK60.14648925
121MAP3K30.14021140
122SIK10.13407341
123FGFR30.13003597
124ROCK20.12067006
125RPS6KB20.11694154
126PRKCQ0.10881126
127GRK70.10870913
128MAP3K100.08470065
129PRKCZ0.08215614
130MAP3K110.08158709
131MARK30.07400125
132BRAF0.07375360
133MAP3K50.07079511
134RPS6KA20.06813892
135CSNK2A10.06012001
136KSR10.05971495
137CDK150.05945340
138PAK40.05227712
139BRSK10.05146168
140MAP3K40.05006640
141CDK10.04956399
142CDK30.04407733
143STK100.04194234
144CDK120.04171703
145GSK3B0.03803091
146WNK30.03678653
147CDK20.03661930
148CSNK1D0.03646682
149CDK180.03585841
150PRKG10.03481981
151PRKACG0.03434349
152CDK11A0.02807382
153MAPK80.02633720
154PRKG20.02492941
155CSF1R0.02361446
156STK110.02250875
157RPS6KA10.02187041
158PRKDC0.01348906
159PAK60.00970118
160CSNK2A20.00690967
161PRKACB0.00612439
162CDK60.00212782
163MAPK10-0.0424000
164AURKA-0.0388618
165PRKCA-0.0301768
166CAMK2A-0.0279256
167EGFR-0.0261942
168RPS6KA3-0.0257608
169PKN1-0.0238412
170ZAP70-0.0180037
171TAOK1-0.0144362
172CDK4-0.0139480
173PDGFRB-0.0123724
174PRKCB-0.0043751
175CDK14-0.0034829

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007504.67409989
2Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.63380720
3Glycolysis / Gluconeogenesis_Homo sapiens_hsa000104.34996187
4Dilated cardiomyopathy_Homo sapiens_hsa054144.28259323
5Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.18375718
6Pyruvate metabolism_Homo sapiens_hsa006204.15028628
72-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.86638805
8Fatty acid biosynthesis_Homo sapiens_hsa000613.56073640
9Propanoate metabolism_Homo sapiens_hsa006403.27485238
10Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.24100949
11Glucagon signaling pathway_Homo sapiens_hsa049222.89907205
12alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.77000816
13Basal transcription factors_Homo sapiens_hsa030222.75240870
14Linoleic acid metabolism_Homo sapiens_hsa005912.66294676
15Circadian rhythm_Homo sapiens_hsa047102.65522465
16Selenocompound metabolism_Homo sapiens_hsa004502.37345908
17Dorso-ventral axis formation_Homo sapiens_hsa043202.34264654
18Pentose phosphate pathway_Homo sapiens_hsa000302.31396750
19Fanconi anemia pathway_Homo sapiens_hsa034602.21107055
20Arginine and proline metabolism_Homo sapiens_hsa003302.04831965
21Oocyte meiosis_Homo sapiens_hsa041141.95490108
22Glycerolipid metabolism_Homo sapiens_hsa005611.94515522
23Insulin signaling pathway_Homo sapiens_hsa049101.91937005
24Carbohydrate digestion and absorption_Homo sapiens_hsa049731.89362338
25Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.83008636
26Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.79420815
27Huntingtons disease_Homo sapiens_hsa050161.78425922
28Arginine biosynthesis_Homo sapiens_hsa002201.77194405
29Oxytocin signaling pathway_Homo sapiens_hsa049211.69328576
30PPAR signaling pathway_Homo sapiens_hsa033201.65034584
31Amphetamine addiction_Homo sapiens_hsa050311.63450270
32Parkinsons disease_Homo sapiens_hsa050121.62935260
33Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.57939968
34Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.56446364
35Insulin resistance_Homo sapiens_hsa049311.53911951
36Alzheimers disease_Homo sapiens_hsa050101.51232047
37Cysteine and methionine metabolism_Homo sapiens_hsa002701.49394126
38Glycosaminoglycan degradation_Homo sapiens_hsa005311.48111238
39Glycerophospholipid metabolism_Homo sapiens_hsa005641.45806898
40Carbon metabolism_Homo sapiens_hsa012001.42896767
41Fructose and mannose metabolism_Homo sapiens_hsa000511.42053838
42Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.36957365
43Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.36905931
44Cardiac muscle contraction_Homo sapiens_hsa042601.31958223
45Renin secretion_Homo sapiens_hsa049241.29742555
46Oxidative phosphorylation_Homo sapiens_hsa001901.27927376
47Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.26952718
48Phenylalanine metabolism_Homo sapiens_hsa003601.26550478
49Fat digestion and absorption_Homo sapiens_hsa049751.26033192
50mRNA surveillance pathway_Homo sapiens_hsa030151.23718781
51Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.23609176
52Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.23500116
53Ether lipid metabolism_Homo sapiens_hsa005651.21913084
54Mineral absorption_Homo sapiens_hsa049781.11638170
55Fatty acid metabolism_Homo sapiens_hsa012121.11148482
56Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.10251123
57RNA transport_Homo sapiens_hsa030131.09999037
58Starch and sucrose metabolism_Homo sapiens_hsa005001.09387462
59Fatty acid degradation_Homo sapiens_hsa000711.06280138
60Antigen processing and presentation_Homo sapiens_hsa046121.05580787
61Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.03133751
62Purine metabolism_Homo sapiens_hsa002301.01060785
63Biosynthesis of amino acids_Homo sapiens_hsa012300.90988332
64Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.88676059
65Viral myocarditis_Homo sapiens_hsa054160.86025725
66Long-term potentiation_Homo sapiens_hsa047200.85533043
67Tight junction_Homo sapiens_hsa045300.84892974
68Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.84053309
69Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.78511892
70ABC transporters_Homo sapiens_hsa020100.78344712
71Glutathione metabolism_Homo sapiens_hsa004800.77405528
72GnRH signaling pathway_Homo sapiens_hsa049120.76144766
73Nitrogen metabolism_Homo sapiens_hsa009100.75226643
74Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.72134247
75Fatty acid elongation_Homo sapiens_hsa000620.71298232
76Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.70838521
77Estrogen signaling pathway_Homo sapiens_hsa049150.69628073
78Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.69513278
79Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.66021562
80Chemical carcinogenesis_Homo sapiens_hsa052040.64947217
81Galactose metabolism_Homo sapiens_hsa000520.64704368
82Arachidonic acid metabolism_Homo sapiens_hsa005900.64380517
83Central carbon metabolism in cancer_Homo sapiens_hsa052300.64325286
84cGMP-PKG signaling pathway_Homo sapiens_hsa040220.63117724
85beta-Alanine metabolism_Homo sapiens_hsa004100.61679346
86Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.60606672
87Calcium signaling pathway_Homo sapiens_hsa040200.59319121
88Hedgehog signaling pathway_Homo sapiens_hsa043400.59004141
89Tryptophan metabolism_Homo sapiens_hsa003800.58814825
90Focal adhesion_Homo sapiens_hsa045100.58681809
91Adipocytokine signaling pathway_Homo sapiens_hsa049200.56562138
92Collecting duct acid secretion_Homo sapiens_hsa049660.53908652
93VEGF signaling pathway_Homo sapiens_hsa043700.52994890
94Insulin secretion_Homo sapiens_hsa049110.52492969
95Butanoate metabolism_Homo sapiens_hsa006500.50586568
96AMPK signaling pathway_Homo sapiens_hsa041520.49440482
97Aldosterone synthesis and secretion_Homo sapiens_hsa049250.48351426
98Longevity regulating pathway - mammal_Homo sapiens_hsa042110.47887552
99Systemic lupus erythematosus_Homo sapiens_hsa053220.47757687
100Thyroid hormone synthesis_Homo sapiens_hsa049180.47396766
101FoxO signaling pathway_Homo sapiens_hsa040680.47206886
102Phosphatidylinositol signaling system_Homo sapiens_hsa040700.46256437
103Histidine metabolism_Homo sapiens_hsa003400.45660036
104Bile secretion_Homo sapiens_hsa049760.44608338
105Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.44403138
106Legionellosis_Homo sapiens_hsa051340.42626302
107Ovarian steroidogenesis_Homo sapiens_hsa049130.42587119
108Inositol phosphate metabolism_Homo sapiens_hsa005620.40564040
109Tyrosine metabolism_Homo sapiens_hsa003500.40488007
110Renin-angiotensin system_Homo sapiens_hsa046140.40261220
111Endocytosis_Homo sapiens_hsa041440.39371023
112Peroxisome_Homo sapiens_hsa041460.38012623
113MAPK signaling pathway_Homo sapiens_hsa040100.37600908
114Metabolic pathways_Homo sapiens_hsa011000.36502065
115Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.34689679
116Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.32564454
117Protein digestion and absorption_Homo sapiens_hsa049740.31901276
118Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.31880026
119N-Glycan biosynthesis_Homo sapiens_hsa005100.31761272
120Pancreatic secretion_Homo sapiens_hsa049720.31353595
121Vascular smooth muscle contraction_Homo sapiens_hsa042700.30718921
122Lysine degradation_Homo sapiens_hsa003100.29819241
123Taste transduction_Homo sapiens_hsa047420.28808446
124Cholinergic synapse_Homo sapiens_hsa047250.28550920
125Adherens junction_Homo sapiens_hsa045200.26245831
126Pentose and glucuronate interconversions_Homo sapiens_hsa000400.26147965
127Pyrimidine metabolism_Homo sapiens_hsa002400.26002705
128RNA degradation_Homo sapiens_hsa030180.25639479
129Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.25482094
130Salivary secretion_Homo sapiens_hsa049700.25340414
131Long-term depression_Homo sapiens_hsa047300.24641105
132B cell receptor signaling pathway_Homo sapiens_hsa046620.24568195
133Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.23609600
134Circadian entrainment_Homo sapiens_hsa047130.23192699
135Gastric acid secretion_Homo sapiens_hsa049710.23020330
136Regulation of autophagy_Homo sapiens_hsa041400.22943913
137Thyroid hormone signaling pathway_Homo sapiens_hsa049190.21345221
138cAMP signaling pathway_Homo sapiens_hsa040240.21305670
139Synaptic vesicle cycle_Homo sapiens_hsa047210.20842225
140Alcoholism_Homo sapiens_hsa050340.19397882
141Platelet activation_Homo sapiens_hsa046110.19141605
142Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.18863647
143Wnt signaling pathway_Homo sapiens_hsa043100.18138129
144HIF-1 signaling pathway_Homo sapiens_hsa040660.18081408
145Viral carcinogenesis_Homo sapiens_hsa052030.17268726
146Retinol metabolism_Homo sapiens_hsa008300.17136069
147mTOR signaling pathway_Homo sapiens_hsa041500.16549242
148Homologous recombination_Homo sapiens_hsa034400.16484713
149Amoebiasis_Homo sapiens_hsa051460.16375180
150Regulation of actin cytoskeleton_Homo sapiens_hsa048100.16128580
151Cell cycle_Homo sapiens_hsa041100.14576173
152Melanogenesis_Homo sapiens_hsa049160.10861078
153Cocaine addiction_Homo sapiens_hsa050300.09902484
154Gap junction_Homo sapiens_hsa045400.09170535
155Glutamatergic synapse_Homo sapiens_hsa047240.08568215
156Olfactory transduction_Homo sapiens_hsa047400.07983837
157Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.07397689
158Leukocyte transendothelial migration_Homo sapiens_hsa046700.07332281
159Renal cell carcinoma_Homo sapiens_hsa052110.07313447

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