CRHR2

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 protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)8.66575465
2actin-myosin filament sliding (GO:0033275)8.41675680
3muscle filament sliding (GO:0030049)8.41675680
4cardiac myofibril assembly (GO:0055003)7.57192123
5myofibril assembly (GO:0030239)7.49482590
6negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.33251238
7regulation of skeletal muscle contraction (GO:0014819)7.31287738
8plasma membrane repair (GO:0001778)7.08192984
9actin-mediated cell contraction (GO:0070252)6.92606070
10positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.92450544
11sarcoplasmic reticulum calcium ion transport (GO:0070296)6.67898614
12negative regulation of potassium ion transmembrane transport (GO:1901380)6.60237068
13regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.45246369
14cardiac muscle contraction (GO:0060048)6.16588427
15tricarboxylic acid cycle (GO:0006099)6.05239444
16regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.89622457
17striated muscle contraction (GO:0006941)5.76659286
18regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.74994787
19regulation of relaxation of muscle (GO:1901077)5.64622466
20cardiac muscle cell development (GO:0055013)5.58770126
21actomyosin structure organization (GO:0031032)5.55880426
22skeletal muscle contraction (GO:0003009)5.55430485
23carnitine shuttle (GO:0006853)5.46527651
24regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.46028697
25regulation of actin filament-based movement (GO:1903115)5.40104322
26regulation of cell communication by electrical coupling (GO:0010649)5.31686195
27actin filament-based movement (GO:0030048)5.26664549
28ventricular cardiac muscle cell action potential (GO:0086005)5.26572983
29regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.23874941
30cardiac cell development (GO:0055006)5.22819136
31regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.13734573
32adult heart development (GO:0007512)4.95870461
33regulation of sarcomere organization (GO:0060297)4.85559583
34response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.80086656
35regulation of membrane repolarization (GO:0060306)4.78555394
36cardiac muscle hypertrophy (GO:0003300)4.78515900
37regulation of acyl-CoA biosynthetic process (GO:0050812)4.76673847
38cardiac muscle tissue morphogenesis (GO:0055008)4.76384556
39fatty acid transmembrane transport (GO:1902001)4.65859207
40striated muscle hypertrophy (GO:0014897)4.64633211
41regulation of striated muscle contraction (GO:0006942)4.63373321
42neuron cell-cell adhesion (GO:0007158)4.54934867
43creatine metabolic process (GO:0006600)4.52726011
44bundle of His cell to Purkinje myocyte communication (GO:0086069)4.51255113
45heart trabecula formation (GO:0060347)4.47598216
46heart contraction (GO:0060047)4.45428617
47heart process (GO:0003015)4.45428617
48muscle tissue morphogenesis (GO:0060415)4.43012844
49regulation of timing of cell differentiation (GO:0048505)4.37443849
50ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.37278562
51regulation of coenzyme metabolic process (GO:0051196)4.32234808
52regulation of cofactor metabolic process (GO:0051193)4.32234808
53skeletal muscle adaptation (GO:0043501)4.19370695
54regulation of development, heterochronic (GO:0040034)4.15117338
55muscle contraction (GO:0006936)4.14208058
56presynaptic membrane organization (GO:0097090)4.13935812
57muscle hypertrophy (GO:0014896)4.06314178
58postsynaptic membrane organization (GO:0001941)4.06273230
59substrate-independent telencephalic tangential interneuron migration (GO:0021843)4.05222590
60substrate-independent telencephalic tangential migration (GO:0021826)4.05222590
61positive regulation of calcium ion transmembrane transporter activity (GO:1901021)4.04009897
62auditory behavior (GO:0031223)3.99257849
63carnitine transmembrane transport (GO:1902603)3.98308803
64mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.94280846
65regulation of the force of heart contraction (GO:0002026)3.94033156
66cell communication involved in cardiac conduction (GO:0086065)3.93818941
67response to inactivity (GO:0014854)3.90825336
68cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.89390685
69striatum development (GO:0021756)3.88865768
70mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.86896254
71cardiac muscle cell action potential involved in contraction (GO:0086002)3.85216134
72cerebral cortex radially oriented cell migration (GO:0021799)3.84427247
73muscle system process (GO:0003012)3.81112859
74cardiac muscle cell action potential (GO:0086001)3.80378765
75ATP synthesis coupled proton transport (GO:0015986)3.78805923
76energy coupled proton transport, down electrochemical gradient (GO:0015985)3.78805923
77NADH metabolic process (GO:0006734)3.77006646
78pyrimidine ribonucleoside catabolic process (GO:0046133)3.74641389
79transmission of nerve impulse (GO:0019226)3.74087039
802-oxoglutarate metabolic process (GO:0006103)3.71916638
81respiratory electron transport chain (GO:0022904)3.71518866
82protein localization to synapse (GO:0035418)3.70353729
83mechanosensory behavior (GO:0007638)3.70256016
84striated muscle adaptation (GO:0014888)3.69787569
85negative regulation of potassium ion transport (GO:0043267)3.68948836
86presynaptic membrane assembly (GO:0097105)3.68087661
87striated muscle cell development (GO:0055002)3.67985614
88positive regulation of cation channel activity (GO:2001259)3.67608664
89regulation of sulfur metabolic process (GO:0042762)3.66665940
90otic vesicle formation (GO:0030916)3.65593598
91vocalization behavior (GO:0071625)3.64819657
92oxidative phosphorylation (GO:0006119)3.64782054
93regulation of heart rate (GO:0002027)3.63907589
94regulation of calcium ion transmembrane transporter activity (GO:1901019)3.63486295
95regulation of calcium ion transmembrane transport (GO:1903169)3.63486295
96cardiac muscle hypertrophy in response to stress (GO:0014898)3.63285958
97muscle hypertrophy in response to stress (GO:0003299)3.63285958
98cardiac muscle adaptation (GO:0014887)3.63285958
99carnitine transport (GO:0015879)3.62806524
100amino-acid betaine transport (GO:0015838)3.62806524
101regulation of sequestering of triglyceride (GO:0010889)3.61292613
102electron transport chain (GO:0022900)3.60907702
103glycogen catabolic process (GO:0005980)3.60666949
104regulation of cardiac muscle contraction (GO:0055117)3.54081996
105negative regulation of protein localization to cell surface (GO:2000009)3.49314909
106regulation of ATP catabolic process (GO:1903289)3.46709113
107regulation of ATPase activity (GO:0043462)3.46709113
108cytidine deamination (GO:0009972)3.46564491
109cytidine metabolic process (GO:0046087)3.46564491
110cytidine catabolic process (GO:0006216)3.46564491
111neuron fate determination (GO:0048664)3.46482853
112response to muscle activity (GO:0014850)3.46250579
113cardiac conduction (GO:0061337)3.44261431
114regulation of cardiac muscle cell contraction (GO:0086004)3.39086327
115membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.37912547
116positive regulation of heart rate (GO:0010460)3.37857238
117regulation of heart rate by cardiac conduction (GO:0086091)3.36396050
118glucan catabolic process (GO:0009251)3.35595925
119cerebellar granule cell differentiation (GO:0021707)3.32401088
120neurotransmitter-gated ion channel clustering (GO:0072578)3.32050870
121adult walking behavior (GO:0007628)3.30683249
122central nervous system projection neuron axonogenesis (GO:0021952)3.27818772
123dendritic spine morphogenesis (GO:0060997)3.21973860
124pyrimidine nucleobase catabolic process (GO:0006208)3.16568301
125layer formation in cerebral cortex (GO:0021819)3.12244208
126neuron recognition (GO:0008038)3.11035093
127positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.10225382
128mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)3.09054848
129positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021103.09054848
130synapse assembly (GO:0007416)3.06365959
131central nervous system neuron axonogenesis (GO:0021955)3.05695246
132synaptic vesicle maturation (GO:0016188)3.04338874
133heart valve formation (GO:0003188)2.99628105
134behavioral response to cocaine (GO:0048148)2.96573429
135limb bud formation (GO:0060174)2.92683992
136cell proliferation in forebrain (GO:0021846)2.88172347
137calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.87448975
138regulation of synapse structural plasticity (GO:0051823)2.85575198
139inner ear receptor stereocilium organization (GO:0060122)2.85267582
140positive regulation of potassium ion transport (GO:0043268)2.80946894
141positive regulation of synapse assembly (GO:0051965)2.79406981
142peristalsis (GO:0030432)2.79134718
143proline transport (GO:0015824)2.77359863
144synaptic vesicle endocytosis (GO:0048488)2.77281981
145positive regulation of mitochondrial fission (GO:0090141)2.73801817
146retinal ganglion cell axon guidance (GO:0031290)2.71241728
147adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.71106631
148positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.71105688
149regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.70757752
150regulation of cilium movement (GO:0003352)2.68244292
151axoneme assembly (GO:0035082)2.66251948
152long term synaptic depression (GO:0060292)2.64767871
153phosphorelay signal transduction system (GO:0000160)2.63740923
154glycosphingolipid biosynthetic process (GO:0006688)2.63110917
155detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.62582493
156cerebral cortex cell migration (GO:0021795)2.61242890
157cerebral cortex neuron differentiation (GO:0021895)2.60671848
158protein polyglutamylation (GO:0018095)2.59313397
159cochlea development (GO:0090102)2.58195617
160establishment of nucleus localization (GO:0040023)2.57918996
161ephrin receptor signaling pathway (GO:0048013)2.56771809
162retinal cone cell development (GO:0046549)2.56136319
163regulation of dendritic spine morphogenesis (GO:0061001)2.55823881
164positive regulation of potassium ion transmembrane transport (GO:1901381)2.55199512
165regulation of synapse assembly (GO:0051963)2.54187615
166asymmetric protein localization (GO:0008105)2.52770983
167response to auditory stimulus (GO:0010996)2.52769402
168auditory receptor cell stereocilium organization (GO:0060088)2.52293104
169nucleobase catabolic process (GO:0046113)2.51140803
170neuron-neuron synaptic transmission (GO:0007270)2.47257473
171regulation of microtubule-based movement (GO:0060632)2.46310558
172regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.45986495
173regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.45986495
174dentate gyrus development (GO:0021542)2.45869947
175regulation of synaptic vesicle exocytosis (GO:2000300)2.45571135
176axonal fasciculation (GO:0007413)2.44123558
177telencephalon cell migration (GO:0022029)2.43123754
178oligodendrocyte differentiation (GO:0048709)2.42734171
179negative regulation of cytosolic calcium ion concentration (GO:0051481)2.40913886
180Golgi to endosome transport (GO:0006895)2.40449696
181dopamine transport (GO:0015872)2.40203503
182neuronal action potential propagation (GO:0019227)2.39934995
183cAMP catabolic process (GO:0006198)2.39253805
184positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.39137602
185neurotransmitter secretion (GO:0007269)2.38427454
186regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.38176176
187forebrain cell migration (GO:0021885)2.36331048
188synaptic vesicle exocytosis (GO:0016079)2.36263723
189glutamate secretion (GO:0014047)2.36139566
190synapse organization (GO:0050808)2.35903282
191synaptic transmission, dopaminergic (GO:0001963)2.35268187
192sex differentiation (GO:0007548)2.34855701
193neuromuscular synaptic transmission (GO:0007274)2.34777761
194establishment of protein localization to Golgi (GO:0072600)2.34514485
195neuronal action potential (GO:0019228)2.33978700

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.08594255
2ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.16897298
3EP300_21415370_ChIP-Seq_HL-1_Mouse3.87806970
4TBX20_22328084_ChIP-Seq_HEART_Mouse3.63476322
5TBX20_22080862_ChIP-Seq_HEART_Mouse3.63476322
6TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.55654833
7SALL1_21062744_ChIP-ChIP_HESCs_Human3.35456827
8ESR1_20079471_ChIP-ChIP_T-47D_Human3.12692406
9ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.99564510
10RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.95487694
11BP1_19119308_ChIP-ChIP_Hs578T_Human2.94938566
12ZNF263_19887448_ChIP-Seq_K562_Human2.90366772
13GBX2_23144817_ChIP-Seq_PC3_Human2.80524671
14NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.76797069
15RARG_19884340_ChIP-ChIP_MEFs_Mouse2.67639860
16GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.66668719
17MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.62538843
18IGF1R_20145208_ChIP-Seq_DFB_Human2.54993709
19EZH2_22144423_ChIP-Seq_EOC_Human2.52396992
20GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.46230950
21CTBP2_25329375_ChIP-Seq_LNCAP_Human2.42992006
22CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.40590528
23POU3F2_20337985_ChIP-ChIP_501MEL_Human2.40002962
24ZFP57_27257070_Chip-Seq_ESCs_Mouse2.30979166
25PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.19730626
26VDR_22108803_ChIP-Seq_LS180_Human2.18566740
27THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.12746128
28RBPJ_22232070_ChIP-Seq_NCS_Mouse2.03537090
29CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.00389829
30FUS_26573619_Chip-Seq_HEK293_Human1.97861700
31TAF15_26573619_Chip-Seq_HEK293_Human1.96223509
32CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.95523430
33CDX2_19796622_ChIP-Seq_MESCs_Mouse1.94614846
34* REST_21632747_ChIP-Seq_MESCs_Mouse1.94174500
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.92039138
36ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.86911356
37GATA4_21415370_ChIP-Seq_HL-1_Mouse1.86558761
38NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.84342577
39PIAS1_25552417_ChIP-Seq_VCAP_Human1.79613196
40P300_19829295_ChIP-Seq_ESCs_Human1.78508658
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.75449217
42SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.70242372
43PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.70028780
44SMAD3_21741376_ChIP-Seq_EPCs_Human1.67837965
45ESR2_21235772_ChIP-Seq_MCF-7_Human1.67133580
46* SMAD4_21799915_ChIP-Seq_A2780_Human1.65278640
47TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.64199667
48POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.64199667
49* DROSHA_22980978_ChIP-Seq_HELA_Human1.63849937
50EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.63674624
51* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.63217642
52CLOCK_20551151_ChIP-Seq_293T_Human1.63046740
53STAT3_23295773_ChIP-Seq_U87_Human1.62345730
54CTBP1_25329375_ChIP-Seq_LNCAP_Human1.61919393
55TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.61524937
56TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.60341695
57* REST_18959480_ChIP-ChIP_MESCs_Mouse1.60339304
58CBX2_27304074_Chip-Seq_ESCs_Mouse1.58431822
59RNF2_27304074_Chip-Seq_NSC_Mouse1.56067749
60MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.54874045
61CTCF_27219007_Chip-Seq_Bcells_Human1.54136108
62AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.53172698
63CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.51597065
64NR3C1_21868756_ChIP-Seq_MCF10A_Human1.51433102
65FLI1_27457419_Chip-Seq_LIVER_Mouse1.48839130
66* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.47619940
67* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.46872220
68ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.46489912
69TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.45003599
70TOP2B_26459242_ChIP-Seq_MCF-7_Human1.44886976
71TCF4_23295773_ChIP-Seq_U87_Human1.44667294
72TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.44276869
73JARID2_20064375_ChIP-Seq_MESCs_Mouse1.42254860
74UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.42025431
75JARID2_20075857_ChIP-Seq_MESCs_Mouse1.40183034
76PCGF2_27294783_Chip-Seq_NPCs_Mouse1.40011055
77EED_16625203_ChIP-ChIP_MESCs_Mouse1.39754941
78HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.39125483
79AR_25329375_ChIP-Seq_VCAP_Human1.37591802
80RNF2_27304074_Chip-Seq_ESCs_Mouse1.37296012
81NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.36284434
82CBP_20019798_ChIP-Seq_JUKART_Human1.36027760
83IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.36027760
84TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.35186357
85SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.34846207
86PCGF2_27294783_Chip-Seq_ESCs_Mouse1.34545406
87PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.33890724
88EWS_26573619_Chip-Seq_HEK293_Human1.32411776
89BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.31099571
90SUZ12_27294783_Chip-Seq_NPCs_Mouse1.30888137
91SMAD4_21741376_ChIP-Seq_EPCs_Human1.29884543
92ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.28622389
93PPARA_22158963_ChIP-Seq_LIVER_Mouse1.27857820
94NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.27694947
95KDM2B_26808549_Chip-Seq_SUP-B15_Human1.26524496
96SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.25921926
97ER_23166858_ChIP-Seq_MCF-7_Human1.24813260
98LXR_22292898_ChIP-Seq_THP-1_Human1.24734916
99BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.24674073
100RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.21791646
101EZH2_27294783_Chip-Seq_NPCs_Mouse1.21611112
102ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.21186370
103SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.20867453
104RUNX2_22187159_ChIP-Seq_PCA_Human1.20168568
105NANOG_18555785_Chip-Seq_ESCs_Mouse1.19553938
106ZFP281_18757296_ChIP-ChIP_E14_Mouse1.19460834
107TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.18321698
108ZNF274_21170338_ChIP-Seq_K562_Hela1.17806634
109IRF1_19129219_ChIP-ChIP_H3396_Human1.17527166
110CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16390840
111TP63_22573176_ChIP-Seq_HFKS_Human1.16315328
112P53_22127205_ChIP-Seq_FIBROBLAST_Human1.14951523
113KDM2B_26808549_Chip-Seq_DND41_Human1.13963007
114LXR_22158963_ChIP-Seq_LIVER_Mouse1.13321252
115FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.12514891
116LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12325059
117AR_19668381_ChIP-Seq_PC3_Human1.12304384
118SUZ12_27294783_Chip-Seq_ESCs_Mouse1.12236436
119TCF4_22108803_ChIP-Seq_LS180_Human1.12098666
120KDM2B_26808549_Chip-Seq_REH_Human1.11714817
121SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.11682068
122NFE2_27457419_Chip-Seq_LIVER_Mouse1.11128283
123GATA1_26923725_Chip-Seq_HPCs_Mouse1.10739868
124FLI1_21867929_ChIP-Seq_TH2_Mouse1.10213786
125* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.09697084
126EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.09217194
127TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.07386033
128YY1_22570637_ChIP-Seq_MALME-3M_Human1.07000783
129P68_20966046_ChIP-Seq_HELA_Human1.06330454
130KLF5_20875108_ChIP-Seq_MESCs_Mouse1.06270515
131RACK7_27058665_Chip-Seq_MCF-7_Human1.05621760
132CTCF_21964334_ChIP-Seq_BJAB-B_Human1.05528558
133TBX3_20139965_ChIP-Seq_ESCs_Mouse1.05029281
134TBX3_20139965_ChIP-Seq_MESCs_Mouse1.04950243
135MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.04857100
136SOX9_26525672_Chip-Seq_HEART_Mouse1.04755544
137EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.04748274
138* EZH2_27294783_Chip-Seq_ESCs_Mouse1.02799754
139* FOXH1_21741376_ChIP-Seq_ESCs_Human1.02620553
140P53_22387025_ChIP-Seq_ESCs_Mouse1.02453557
141RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.02393164
142MTF2_20144788_ChIP-Seq_MESCs_Mouse1.02213018
143CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.02035194
144PPAR_26484153_Chip-Seq_NCI-H1993_Human1.01507580
145OCT4_20526341_ChIP-Seq_ESCs_Human1.00045400
146RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.98337242
147SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.98097426
148RXR_22158963_ChIP-Seq_LIVER_Mouse0.97658771
149ESR1_21235772_ChIP-Seq_MCF-7_Human0.96562732
150SPI1_20517297_ChIP-Seq_HL60_Human0.95789522
151RUNX1_27514584_Chip-Seq_MCF-7_Human0.95527144
152NR3C1_23031785_ChIP-Seq_PC12_Mouse0.95132129
153SMC3_22415368_ChIP-Seq_MEFs_Mouse0.94252128
154UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.93125947
155GATA1_22025678_ChIP-Seq_K562_Human0.91254254
156RARB_27405468_Chip-Seq_BRAIN_Mouse0.91050095
157SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.90813951
158* SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.89224465
159FOXA2_19822575_ChIP-Seq_HepG2_Human0.87759192
160ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.87533256
161ISL1_27105846_Chip-Seq_CPCs_Mouse0.87433622
162GATA1_19941826_ChIP-Seq_K562_Human0.87221434
163LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.86946127
164SMC4_20622854_ChIP-Seq_HELA_Human0.85961320
165* SOX2_21211035_ChIP-Seq_LN229_Gbm0.84944868
166EZH2_18974828_ChIP-Seq_MESCs_Mouse0.84090249
167RNF2_18974828_ChIP-Seq_MESCs_Mouse0.84090249
168CREB1_26743006_Chip-Seq_LNCaP_Human0.84055469
169EZH2_27304074_Chip-Seq_ESCs_Mouse0.83916452
170ATF3_27146783_Chip-Seq_COLON_Human0.83903761
171BCL6_27268052_Chip-Seq_Bcells_Human0.83052312
172KDM2B_26808549_Chip-Seq_K562_Human0.82832580
173KLF4_19829295_ChIP-Seq_ESCs_Human0.82793919
174AR_21572438_ChIP-Seq_LNCaP_Human0.82646847
175CTCF_21964334_Chip-Seq_Bcells_Human0.82466410
176E2F1_20622854_ChIP-Seq_HELA_Human0.81920767
177GATA2_21666600_ChIP-Seq_HMVEC_Human0.81031654
178ELK3_25401928_ChIP-Seq_HUVEC_Human0.80116816
179SA1_27219007_Chip-Seq_Bcells_Human0.79855272
180AUTS2_25519132_ChIP-Seq_293T-REX_Human0.79791582
181SMAD4_21741376_ChIP-Seq_HESCs_Human0.79700036
182STAT3_1855785_ChIP-Seq_MESCs_Mouse0.78761734
183SOX9_24532713_ChIP-Seq_HFSC_Mouse0.76537187
184P63_26484246_Chip-Seq_KERATINOCYTES_Human0.76469175
185SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.76342305
186* TP53_23651856_ChIP-Seq_MEFs_Mouse0.75811398

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.47400054
2MP0003646_muscle_fatigue6.38593190
3MP0003880_abnormal_central_pattern6.12248420
4MP0000751_myopathy5.66991508
5MP0004084_abnormal_cardiac_muscle4.82840562
6MP0000749_muscle_degeneration4.70119809
7MP0004036_abnormal_muscle_relaxation4.33319551
8* MP0004215_abnormal_myocardial_fiber3.89812210
9MP0004145_abnormal_muscle_electrophysio3.81167347
10MP0005330_cardiomyopathy3.52856148
11MP0004087_abnormal_muscle_fiber3.24872439
12MP0002106_abnormal_muscle_physiology3.05664933
13MP0000750_abnormal_muscle_regeneration2.97089190
14MP0004859_abnormal_synaptic_plasticity2.94190934
15MP0005620_abnormal_muscle_contractility2.87992171
16MP0002269_muscular_atrophy2.78896645
17MP0002972_abnormal_cardiac_muscle2.78453163
18MP0004130_abnormal_muscle_cell2.75577344
19MP0000747_muscle_weakness2.75473273
20MP0003136_yellow_coat_color2.75010614
21MP0000778_abnormal_nervous_system2.68247040
22MP0003137_abnormal_impulse_conducting2.54775310
23MP0000759_abnormal_skeletal_muscle2.53394805
24MP0005369_muscle_phenotype2.52656483
25MP0008775_abnormal_heart_ventricle2.46656452
26MP0004484_altered_response_of2.37229895
27MP0010630_abnormal_cardiac_muscle2.26863743
28MP0001544_abnormal_cardiovascular_syste2.24314848
29MP0005385_cardiovascular_system_phenoty2.24314848
30MP0004233_abnormal_muscle_weight2.20480074
31MP0003890_abnormal_embryonic-extraembry2.10005950
32MP0003635_abnormal_synaptic_transmissio2.02950841
33MP0001984_abnormal_olfaction1.96080800
34MP0008877_abnormal_DNA_methylation1.94321113
35MP0006138_congestive_heart_failure1.94166017
36MP0001529_abnormal_vocalization1.93660142
37MP0001486_abnormal_startle_reflex1.92188833
38MP0002064_seizures1.90971951
39MP0004085_abnormal_heartbeat1.80114191
40MP0006036_abnormal_mitochondrial_physio1.79804577
41MP0003221_abnormal_cardiomyocyte_apopto1.79213306
42MP0002638_abnormal_pupillary_reflex1.75837980
43MP0002102_abnormal_ear_morphology1.73595499
44MP0005551_abnormal_eye_electrophysiolog1.72895749
45MP0006276_abnormal_autonomic_nervous1.71989655
46MP0005394_taste/olfaction_phenotype1.70112107
47MP0005499_abnormal_olfactory_system1.70112107
48MP0003828_pulmonary_edema1.69291757
49MP0002332_abnormal_exercise_endurance1.63305446
50MP0009745_abnormal_behavioral_response1.57192720
51MP0002272_abnormal_nervous_system1.56734535
52MP0002063_abnormal_learning/memory/cond1.55676125
53MP0009046_muscle_twitch1.55445429
54* MP0002572_abnormal_emotion/affect_behav1.52877642
55MP0001501_abnormal_sleep_pattern1.51557060
56MP0002735_abnormal_chemical_nociception1.49100664
57MP0005423_abnormal_somatic_nervous1.47757617
58MP0001968_abnormal_touch/_nociception1.45162273
59MP0005084_abnormal_gallbladder_morpholo1.44495221
60MP0002127_abnormal_cardiovascular_syste1.40239954
61MP0008789_abnormal_olfactory_epithelium1.35665304
62MP0002734_abnormal_mechanical_nocicepti1.35402609
63MP0004510_myositis1.34933730
64MP0001485_abnormal_pinna_reflex1.32823080
65MP0005253_abnormal_eye_physiology1.32607091
66MP0000955_abnormal_spinal_cord1.31960144
67MP0002928_abnormal_bile_duct1.31740226
68MP0006292_abnormal_olfactory_placode1.29614149
69MP0000631_abnormal_neuroendocrine_gland1.28722634
70MP0002067_abnormal_sensory_capabilities1.28240238
71MP0002736_abnormal_nociception_after1.27989068
72MP0000566_synostosis1.25047581
73MP0003950_abnormal_plasma_membrane1.23912361
74MP0002882_abnormal_neuron_morphology1.23891283
75MP0002108_abnormal_muscle_morphology1.23043452
76MP0002234_abnormal_pharynx_morphology1.20636484
77MP0004811_abnormal_neuron_physiology1.19542969
78MP0002653_abnormal_ependyma_morphology1.15598986
79* MP0005666_abnormal_adipose_tissue1.12854030
80MP0006072_abnormal_retinal_apoptosis1.11933943
81MP0004185_abnormal_adipocyte_glucose1.11169695
82MP0000427_abnormal_hair_cycle1.08937242
83MP0000343_altered_response_to1.08687164
84MP0000383_abnormal_hair_follicle1.08288883
85MP0002233_abnormal_nose_morphology1.07773419
86MP0000013_abnormal_adipose_tissue1.07369443
87MP0001970_abnormal_pain_threshold1.07264569
88MP0001502_abnormal_circadian_rhythm1.06474426
89MP0002733_abnormal_thermal_nociception1.05906016
90* MP0002557_abnormal_social/conspecific_i1.04969432
91MP0000733_abnormal_muscle_development1.03314389
92MP0002184_abnormal_innervation1.02175769
93MP0002752_abnormal_somatic_nervous1.01915695
94MP0005670_abnormal_white_adipose0.99365136
95MP0003567_abnormal_fetal_cardiomyocyte0.99200731
96MP0002152_abnormal_brain_morphology0.97905833
97MP0000266_abnormal_heart_morphology0.97680278
98MP0004885_abnormal_endolymph0.97473478
99MP0005165_increased_susceptibility_to0.96832064
100MP0006035_abnormal_mitochondrial_morpho0.96046602
101MP0005266_abnormal_metabolism0.93125808
102MP0004133_heterotaxia0.91842360
103* MP0005375_adipose_tissue_phenotype0.91096895
104MP0003121_genomic_imprinting0.90074798
105MP0002909_abnormal_adrenal_gland0.89240797
106MP0003861_abnormal_nervous_system0.89214787
107* MP0002066_abnormal_motor_capabilities/c0.88378902
108MP0003119_abnormal_digestive_system0.87455740
109MP0000026_abnormal_inner_ear0.85968938
110MP0000049_abnormal_middle_ear0.85108537
111MP0003183_abnormal_peptide_metabolism0.84959152
112MP0003122_maternal_imprinting0.83610510
113MP0005646_abnormal_pituitary_gland0.82114373
114MP0008872_abnormal_physiological_respon0.81154619
115MP0003633_abnormal_nervous_system0.80425763
116MP0004043_abnormal_pH_regulation0.78895724
117MP0000003_abnormal_adipose_tissue0.78597753
118MP0003279_aneurysm0.78581982
119MP0003787_abnormal_imprinting0.77349917
120MP0005391_vision/eye_phenotype0.77179067
121MP0003698_abnormal_male_reproductive0.75427764
122MP0010368_abnormal_lymphatic_system0.75414577
123MP0002229_neurodegeneration0.74726265
124MP0008995_early_reproductive_senescence0.74072035
125MP0003806_abnormal_nucleotide_metabolis0.72877758
126MP0005195_abnormal_posterior_eye0.72746759
127* MP0002971_abnormal_brown_adipose0.72666570
128MP0000428_abnormal_craniofacial_morphol0.72382086
129MP0001177_atelectasis0.71769669
130MP0003937_abnormal_limbs/digits/tail_de0.70539625
131MP0003011_delayed_dark_adaptation0.70421371
132MP0004742_abnormal_vestibular_system0.70349654
133* MP0000230_abnormal_systemic_arterial0.63387521
134MP0002128_abnormal_blood_circulation0.63251773
135MP0008961_abnormal_basal_metabolism0.62275226
136MP0008004_abnormal_stomach_pH0.60750310
137* MP0002078_abnormal_glucose_homeostasis0.60317231
138MP0003705_abnormal_hypodermis_morpholog0.58646057
139MP0009780_abnormal_chondrocyte_physiolo0.54554557
140MP0005187_abnormal_penis_morphology0.49221443
141MP0005319_abnormal_enzyme/_coenzyme0.47453092
142MP0003566_abnormal_cell_adhesion0.46644027
143MP0005535_abnormal_body_temperature0.44913785
144MP0004147_increased_porphyrin_level0.43975759
145MP0005623_abnormal_meninges_morphology0.43508068
146MP0003045_fibrosis0.42603901
147MP0005275_abnormal_skin_tensile0.42131131
148MP0005451_abnormal_body_composition0.40942807
149MP0005334_abnormal_fat_pad0.39508488
150MP0000767_abnormal_smooth_muscle0.36099810
151MP0001879_abnormal_lymphatic_vessel0.34229593
152MP0004270_analgesia0.34144136
153MP0000579_abnormal_nail_morphology0.34100652
154MP0003948_abnormal_gas_homeostasis0.33170084
155MP0005083_abnormal_biliary_tract0.33116642
156MP0003283_abnormal_digestive_organ0.32889500
157MP0004272_abnormal_basement_membrane0.32646537
158MP0001299_abnormal_eye_distance/0.29775882
159MP0002877_abnormal_melanocyte_morpholog0.29432500
160MP0002822_catalepsy0.28630452
161* MP0002925_abnormal_cardiovascular_devel0.28386806
162MP0003195_calcinosis0.27107392
163MP0005584_abnormal_enzyme/coenzyme_acti0.26967950
164MP0004924_abnormal_behavior0.26781582
165MP0005386_behavior/neurological_phenoty0.26781582
166MP0008569_lethality_at_weaning0.26498732
167* MP0002118_abnormal_lipid_homeostasis0.25215599
168* MP0005452_abnormal_adipose_tissue0.24197867
169MP0009115_abnormal_fat_cell0.23898553
170MP0008438_abnormal_cutaneous_collagen0.23407423
171MP0008874_decreased_physiological_sensi0.23167813
172MP0001784_abnormal_fluid_regulation0.22350046
173MP0001765_abnormal_ion_homeostasis0.20613282
174MP0001727_abnormal_embryo_implantation0.20297570
175* MP0001614_abnormal_blood_vessel0.18912083
176MP0005376_homeostasis/metabolism_phenot0.18666116

Predicted human phenotypes

RankGene SetZ-score
1Exercise-induced myalgia (HP:0003738)7.16332078
2Calf muscle hypertrophy (HP:0008981)6.87130824
3Exercise-induced muscle cramps (HP:0003710)6.82875492
4Sudden death (HP:0001699)6.76336264
5Muscle hypertrophy of the lower extremities (HP:0008968)6.74158412
6Muscle fiber splitting (HP:0003555)5.91555228
7Muscle fiber inclusion bodies (HP:0100299)5.65479127
8Ventricular tachycardia (HP:0004756)5.63770293
9Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.33735965
10Hyporeflexia of lower limbs (HP:0002600)5.31942164
11Myoglobinuria (HP:0002913)5.31929525
12Abnormality of the calf musculature (HP:0001430)5.27020742
13Abnormality of the left ventricular outflow tract (HP:0011103)4.90888199
14Subaortic stenosis (HP:0001682)4.90888199
15Atrial fibrillation (HP:0005110)4.75072874
16Type 1 muscle fiber predominance (HP:0003803)4.74672862
17Nemaline bodies (HP:0003798)4.73795972
18EMG: myopathic abnormalities (HP:0003458)4.68482963
19Increased connective tissue (HP:0009025)4.55481233
20Difficulty running (HP:0009046)4.49983586
21Primary atrial arrhythmia (HP:0001692)4.44286075
22Supraventricular tachycardia (HP:0004755)4.29163510
23Lipoatrophy (HP:0100578)4.24373477
24Supraventricular arrhythmia (HP:0005115)4.19863824
25Rhabdomyolysis (HP:0003201)4.12142473
26Asymmetric septal hypertrophy (HP:0001670)4.02199653
27Bundle branch block (HP:0011710)3.97880118
28Myotonia (HP:0002486)3.94195161
29Right ventricular cardiomyopathy (HP:0011663)3.85022674
30Syncope (HP:0001279)3.84542945
31Prolonged QT interval (HP:0001657)3.79303910
32Dilated cardiomyopathy (HP:0001644)3.73319791
33Palpitations (HP:0001962)3.65607824
34Oligodactyly (hands) (HP:0001180)3.61687422
35Muscle stiffness (HP:0003552)3.48358772
36Ventricular arrhythmia (HP:0004308)3.40232858
37Difficulty climbing stairs (HP:0003551)3.31606984
38Ventricular fibrillation (HP:0001663)3.31066977
39Heart block (HP:0012722)3.25566508
40Distal arthrogryposis (HP:0005684)3.23960244
41Myopathic facies (HP:0002058)3.19647492
42Drooling (HP:0002307)3.13326064
43Split foot (HP:0001839)3.13076414
44Hypoplastic iliac wings (HP:0002866)3.12733373
45Hypoplastic nipples (HP:0002557)3.08780903
46Abnormality of skeletal muscle fiber size (HP:0012084)3.07546540
47Abnormal atrioventricular conduction (HP:0005150)3.07058508
48Increased variability in muscle fiber diameter (HP:0003557)3.06243646
49Distal lower limb muscle weakness (HP:0009053)3.02188082
50Neck muscle weakness (HP:0000467)2.99491938
51Abnormality of the lower motor neuron (HP:0002366)2.98857416
52True hermaphroditism (HP:0010459)2.97722104
53Areflexia of lower limbs (HP:0002522)2.96025689
54Atrioventricular block (HP:0001678)2.94693815
55Hyperventilation (HP:0002883)2.89714627
56Abnormality of the labia minora (HP:0012880)2.88782286
57Rimmed vacuoles (HP:0003805)2.83091606
58Excessive salivation (HP:0003781)2.82716537
59Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.77104294
60Round ear (HP:0100830)2.75629951
61Abnormal EKG (HP:0003115)2.73697196
62Oligodactyly (HP:0012165)2.65214730
63Epileptic encephalopathy (HP:0200134)2.64519543
64Ketoacidosis (HP:0001993)2.64478629
65Atonic seizures (HP:0010819)2.62030049
66Febrile seizures (HP:0002373)2.59747403
67Broad-based gait (HP:0002136)2.58604631
68Limb-girdle muscle atrophy (HP:0003797)2.57780054
69Left ventricular hypertrophy (HP:0001712)2.54496729
70Focal motor seizures (HP:0011153)2.50464157
71Focal seizures (HP:0007359)2.50308105
72Progressive cerebellar ataxia (HP:0002073)2.47391572
73Ulnar deviation of the wrist (HP:0003049)2.46956020
74Morphological abnormality of the inner ear (HP:0011390)2.45681769
75Limb dystonia (HP:0002451)2.44305033
76Gait imbalance (HP:0002141)2.42481254
77Myokymia (HP:0002411)2.41500761
78Volvulus (HP:0002580)2.41092673
79EMG: neuropathic changes (HP:0003445)2.39909736
80Abnormal mitochondria in muscle tissue (HP:0008316)2.39586648
81Poor eye contact (HP:0000817)2.38101424
82Hypoglycemic coma (HP:0001325)2.37053392
83Hepatic necrosis (HP:0002605)2.36363290
84Specific learning disability (HP:0001328)2.35469050
85Acute necrotizing encephalopathy (HP:0006965)2.35453218
86Congenital stationary night blindness (HP:0007642)2.34178162
87Mildly elevated creatine phosphokinase (HP:0008180)2.32448221
88Fibular aplasia (HP:0002990)2.30657174
89Nephrogenic diabetes insipidus (HP:0009806)2.30246852
90Synostosis involving the elbow (HP:0003938)2.29781406
91Humeroradial synostosis (HP:0003041)2.29781406
92Amyotrophic lateral sclerosis (HP:0007354)2.28262341
93Hypoplastic pelvis (HP:0008839)2.27367418
94Testicular atrophy (HP:0000029)2.27262648
95Hypoplastic ischia (HP:0003175)2.26776842
96Pancreatic cysts (HP:0001737)2.26608168
97Action tremor (HP:0002345)2.24962078
98Abnormality of cochlea (HP:0000375)2.23900236
99Spastic gait (HP:0002064)2.22269488
100Facial diplegia (HP:0001349)2.20398735
101Frequent falls (HP:0002359)2.20286012
102Muscular dystrophy (HP:0003560)2.20002901
103Pancreatic fibrosis (HP:0100732)2.19597972
104Absent speech (HP:0001344)2.18241983
105Congenital primary aphakia (HP:0007707)2.18210923
106Distal lower limb amyotrophy (HP:0008944)2.18064386
107Genital tract atresia (HP:0001827)2.16373615
108Abnormal hair whorl (HP:0010721)2.15126316
109Proximal amyotrophy (HP:0007126)2.15013257
110Ankle clonus (HP:0011448)2.13814650
111Impaired social interactions (HP:0000735)2.13368889
112Abnormal social behavior (HP:0012433)2.13368889
113Gowers sign (HP:0003391)2.13072578
114Generalized muscle weakness (HP:0003324)2.12945261
115Palmoplantar keratoderma (HP:0000982)2.12922852
116Lissencephaly (HP:0001339)2.11800987
117Increased muscle lipid content (HP:0009058)2.10928259
118Progressive muscle weakness (HP:0003323)2.08952235
119Molar tooth sign on MRI (HP:0002419)2.08275355
120Abnormality of midbrain morphology (HP:0002418)2.08275355
121Scapular winging (HP:0003691)2.06492372
122Vaginal atresia (HP:0000148)2.05438172
123Broad alveolar ridges (HP:0000187)2.05263173
124Urinary bladder sphincter dysfunction (HP:0002839)2.04693890
125Long clavicles (HP:0000890)2.04688257
126Nephronophthisis (HP:0000090)2.03814659
127Hyperinsulinemic hypoglycemia (HP:0000825)2.03024573
128Hepatocellular necrosis (HP:0001404)2.00749234
129Centrally nucleated skeletal muscle fibers (HP:0003687)2.00637763
130Acute encephalopathy (HP:0006846)2.00583274
131Abnormality of fatty-acid metabolism (HP:0004359)2.00461169
132Retinal dysplasia (HP:0007973)2.00335212
133Medial flaring of the eyebrow (HP:0010747)1.99491652
134Protruding tongue (HP:0010808)1.98973231
135Aplasia/Hypoplasia of the tongue (HP:0010295)1.98214560
136Ragged-red muscle fibers (HP:0003200)1.97570353
137Abnormality of the ischium (HP:0003174)1.97442825
138Short foot (HP:0001773)1.94547860
139Abnormality of the foot musculature (HP:0001436)1.94452443
140Dicarboxylic aciduria (HP:0003215)1.93793439
141Abnormality of dicarboxylic acid metabolism (HP:0010995)1.93793439
142Exercise intolerance (HP:0003546)1.93441082
143Abnormality of the pubic bones (HP:0003172)1.93353705
144Ketosis (HP:0001946)1.92941886
145Aplasia/Hypoplasia of the sternum (HP:0006714)1.92876875
146Optic nerve hypoplasia (HP:0000609)1.92351940
147Limb-girdle muscle weakness (HP:0003325)1.91678147
148Large for gestational age (HP:0001520)1.91020339
149Progressive macrocephaly (HP:0004481)1.89207550
150Hemiparesis (HP:0001269)1.88660405
151Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.88613497
152Impaired vibration sensation in the lower limbs (HP:0002166)1.88485437
153Hypsarrhythmia (HP:0002521)1.88205429
154Facial hemangioma (HP:0000329)1.87425909
155Epileptiform EEG discharges (HP:0011182)1.87308443
156Mitochondrial inheritance (HP:0001427)1.87258765
157Foot dorsiflexor weakness (HP:0009027)1.85694963
158Type II lissencephaly (HP:0007260)1.85307393
159Vertebral arch anomaly (HP:0008438)1.84803584
160Polyphagia (HP:0002591)1.83468560
161Cerebral edema (HP:0002181)1.83392200
162Pheochromocytoma (HP:0002666)1.83260564
163Abnormality of the renal medulla (HP:0100957)1.83112833
164Chronic hepatic failure (HP:0100626)1.82978645
165Absent phalangeal crease (HP:0006109)1.82278056
166EEG with generalized epileptiform discharges (HP:0011198)1.80683309
167Calcaneovalgus deformity (HP:0001848)1.80211109
168Dyskinesia (HP:0100660)1.79877682
169Increased CSF lactate (HP:0002490)1.79405291
170Increased intramyocellular lipid droplets (HP:0012240)1.78537834
171Conjunctival hamartoma (HP:0100780)1.77798579
172Postaxial hand polydactyly (HP:0001162)1.77233830
173Adactyly (HP:0009776)1.77226598
174Broad ribs (HP:0000885)1.77055024
175Pachygyria (HP:0001302)1.76222076
176Postaxial foot polydactyly (HP:0001830)1.76022779
177Hyperalaninemia (HP:0003348)1.75292144
178Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.75292144
179Aplasia/Hypoplasia of the fibula (HP:0006492)1.75252033
180Inability to walk (HP:0002540)1.75007583
181Hypoplastic ilia (HP:0000946)1.71462255
182Abnormality of salivation (HP:0100755)1.69515051
183Megalencephaly (HP:0001355)1.69481760
18411 pairs of ribs (HP:0000878)1.69418955
185Genetic anticipation (HP:0003743)1.67380839
186Abnormality of the wing of the ilium (HP:0011867)1.65961032
187Abnormality of the corticospinal tract (HP:0002492)1.65641686
188Aplasia/hypoplasia of the uterus (HP:0008684)1.65524668
189Broad foot (HP:0001769)1.65480188
190Gaze-evoked nystagmus (HP:0000640)1.64475448
191Abnormal finger flexion creases (HP:0006143)1.64083385
192Abnormality of the antihelix (HP:0009738)1.63714299
193Lower limb muscle weakness (HP:0007340)1.63075753
194Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.63024879
195Gastrointestinal atresia (HP:0002589)1.61862723
196Ependymoma (HP:0002888)1.61828309
197Cutaneous finger syndactyly (HP:0010554)1.61226497

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN6.54740743
2TTN6.34137644
3PHKG24.60044346
4PHKG14.60044346
5EPHA43.57837339
6DMPK2.95382827
7PDK32.92041056
8PDK42.92041056
9MAPK152.87225745
10MARK12.82298752
11LMTK22.72667860
12FRK2.72453671
13MUSK2.59263212
14MYLK2.53735142
15TRIB32.47208512
16NEK12.46862708
17CASK2.39129822
18BCKDK2.36312496
19MAPK132.22448777
20PINK12.19384113
21PKN22.13285937
22PNCK2.12419342
23LATS11.98658898
24MAP2K31.95103115
25PIK3CA1.93425207
26NTRK31.93025326
27BCR1.81089817
28PDK21.78060223
29FGFR21.75081575
30WNK31.73072631
31MAP2K71.67237677
32TRIM281.59570099
33MAP4K21.59274569
34MAPKAPK31.57694197
35DAPK21.55019697
36UHMK11.54852452
37CDK191.52722963
38NME11.52139591
39PIK3CG1.47236881
40CDK31.46657516
41ERBB31.46358071
42MAP3K71.44068433
43TIE11.42787519
44MAPK121.39459187
45STK241.31920208
46NTRK21.31550529
47OXSR11.21448016
48CAMKK21.17541225
49PAK31.12353627
50DYRK21.08761451
51CAMK2D1.05326892
52MAP2K41.01400945
53PRKD10.97862075
54GRK70.96702488
55CSNK1G20.94385810
56CSNK1G10.94342381
57ILK0.91988719
58PRKAA10.89028920
59BRD40.88778970
60MAP3K50.88429303
61CAMK1G0.88005168
62PLK20.87627065
63SIK20.86143392
64PRKAA20.85685099
65MINK10.85233263
66TRPM70.85069848
67SGK2230.83702237
68SGK4940.83702237
69VRK10.83438049
70CSNK1A1L0.82344462
71MAP2K60.79987173
72RIPK10.79474012
73SGK20.79290302
74INSRR0.79089781
75WNK40.78262566
76CDK50.76910823
77PLK40.76852056
78ZAK0.76274448
79ROCK10.75556979
80CDC42BPA0.74714150
81STK110.74239724
82GRK10.73802492
83MAP3K30.72339794
84BMPR1B0.71119639
85NUAK10.69926509
86DYRK1A0.69844486
87CSNK1G30.67809800
88MAP3K60.67704025
89CAMKK10.65178457
90CDC70.64491982
91PKN10.60981304
92CAMK40.60422055
93FGFR10.59572926
94MARK20.59090241
95SIK30.58285173
96EEF2K0.56884564
97DYRK1B0.55476235
98PDGFRA0.54876602
99EPHB10.52948826
100EPHB20.51887479
101STK380.51769843
102BRSK20.51075109
103TNIK0.50211798
104CAMK2A0.48379145
105AKT20.47824893
106CCNB10.46969379
107CAMK2B0.46821531
108STK40.46768702
109CAMK2G0.44544201
110FLT30.44334478
111PRKCG0.43672710
112MKNK20.43436680
113GRK50.43228859
114CSNK1D0.42270177
115WNK10.42225689
116ADRBK10.41502006
117ROCK20.40928977
118PRKACB0.40804060
119CAMK10.40637200
120ADRBK20.40276582
121DAPK30.39888427
122KSR10.39820371
123PRKCZ0.39437198
124PRKACA0.38326470
125TGFBR20.37953632
126MAPK90.35675871
127PAK60.34950402
128FER0.33863876
129ICK0.33151690
130MAP3K10.31769583
131MAPK110.31742295
132PRKACG0.30540772
133MAP3K40.30506564
134TAOK10.30317899
135PRKCH0.29521934
136STK38L0.28889953
137RET0.28881646
138RPS6KL10.27822909
139RPS6KC10.27822909
140PDPK10.27644394
141MAP3K110.27259170
142PRKCE0.25969570
143SGK10.24135370
144SIK10.23775275
145PRKG10.23139513
146MAPK70.23136515
147PTK2B0.22910980
148PRKD30.21813299
149PTK60.21401800
150RPS6KA30.20854270
151KDR0.19724309
152PDK10.19445847
153RPS6KA10.19344705
154STK390.19196445
155MTOR0.19098151
156RPS6KA60.18909686
157KSR20.18113281
158NEK90.16077719
159MAP2K10.15692281
160RPS6KA20.15133363
161LATS20.12673590
162EPHA30.12431063
163PRKD20.11627193

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.64885343
2Cardiac muscle contraction_Homo sapiens_hsa042604.27712483
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.09164498
4Dilated cardiomyopathy_Homo sapiens_hsa054143.70831201
5Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.70608771
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.15498996
7Propanoate metabolism_Homo sapiens_hsa006403.10039288
8Parkinsons disease_Homo sapiens_hsa050122.96368154
9Oxidative phosphorylation_Homo sapiens_hsa001902.88180956
10Nicotine addiction_Homo sapiens_hsa050332.85897982
11Amphetamine addiction_Homo sapiens_hsa050312.72243250
12Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.69850331
13Fatty acid degradation_Homo sapiens_hsa000712.68974884
14Phototransduction_Homo sapiens_hsa047442.68344310
15Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.49396252
16Cocaine addiction_Homo sapiens_hsa050302.43268174
17Carbon metabolism_Homo sapiens_hsa012002.33093505
18Alzheimers disease_Homo sapiens_hsa050102.28723359
19Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.20988451
20Morphine addiction_Homo sapiens_hsa050322.07020962
21Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.06835026
22Fatty acid metabolism_Homo sapiens_hsa012122.05250877
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.85576154
24Glutamatergic synapse_Homo sapiens_hsa047241.78267219
25Huntingtons disease_Homo sapiens_hsa050161.76348977
26Dopaminergic synapse_Homo sapiens_hsa047281.70463429
27Pyruvate metabolism_Homo sapiens_hsa006201.64194085
28Synaptic vesicle cycle_Homo sapiens_hsa047211.61582631
29Axon guidance_Homo sapiens_hsa043601.56291956
30Viral myocarditis_Homo sapiens_hsa054161.50965551
31Hedgehog signaling pathway_Homo sapiens_hsa043401.47519262
32Starch and sucrose metabolism_Homo sapiens_hsa005001.45559005
33* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.37500551
34Butanoate metabolism_Homo sapiens_hsa006501.36413714
35Fanconi anemia pathway_Homo sapiens_hsa034601.35542588
36Glucagon signaling pathway_Homo sapiens_hsa049221.32078099
37Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.30846417
38Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.29446263
39Insulin resistance_Homo sapiens_hsa049311.24824334
40Inositol phosphate metabolism_Homo sapiens_hsa005621.20456672
41Oocyte meiosis_Homo sapiens_hsa041141.19800535
42Fatty acid elongation_Homo sapiens_hsa000621.18749511
43Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.11617661
44Insulin signaling pathway_Homo sapiens_hsa049101.09767861
45Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.08173572
46Phosphatidylinositol signaling system_Homo sapiens_hsa040701.07887174
47Biosynthesis of amino acids_Homo sapiens_hsa012301.07675975
48Adipocytokine signaling pathway_Homo sapiens_hsa049201.07672950
49Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.06509731
50Calcium signaling pathway_Homo sapiens_hsa040201.04745238
51Steroid biosynthesis_Homo sapiens_hsa001001.01688935
52Long-term depression_Homo sapiens_hsa047301.01002661
53cGMP-PKG signaling pathway_Homo sapiens_hsa040221.00812556
54Wnt signaling pathway_Homo sapiens_hsa043101.00400092
55Basal cell carcinoma_Homo sapiens_hsa052170.97464237
56Regulation of autophagy_Homo sapiens_hsa041400.95925225
57Oxytocin signaling pathway_Homo sapiens_hsa049210.95773343
58Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.95159490
59Serotonergic synapse_Homo sapiens_hsa047260.91966088
60Hippo signaling pathway_Homo sapiens_hsa043900.90192393
61PPAR signaling pathway_Homo sapiens_hsa033200.88382504
62Ether lipid metabolism_Homo sapiens_hsa005650.84891156
63Tryptophan metabolism_Homo sapiens_hsa003800.84802888
64Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.82904853
65Basal transcription factors_Homo sapiens_hsa030220.82070600
66Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.81851632
67AMPK signaling pathway_Homo sapiens_hsa041520.81800880
68Circadian rhythm_Homo sapiens_hsa047100.80670444
69Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.79800636
70Lysine degradation_Homo sapiens_hsa003100.78426508
71Arginine biosynthesis_Homo sapiens_hsa002200.78105290
72Arginine and proline metabolism_Homo sapiens_hsa003300.77920767
73Type II diabetes mellitus_Homo sapiens_hsa049300.77645082
74Galactose metabolism_Homo sapiens_hsa000520.76583753
75Cyanoamino acid metabolism_Homo sapiens_hsa004600.75556729
76Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.74255304
77mRNA surveillance pathway_Homo sapiens_hsa030150.74237709
78Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.74222075
79Insulin secretion_Homo sapiens_hsa049110.72141303
80Melanogenesis_Homo sapiens_hsa049160.72122467
81Nitrogen metabolism_Homo sapiens_hsa009100.72021208
82Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.71628726
83beta-Alanine metabolism_Homo sapiens_hsa004100.70705389
84Vascular smooth muscle contraction_Homo sapiens_hsa042700.70366467
85Gastric acid secretion_Homo sapiens_hsa049710.64655842
86Tight junction_Homo sapiens_hsa045300.64322450
87Glycerolipid metabolism_Homo sapiens_hsa005610.64044188
88Focal adhesion_Homo sapiens_hsa045100.63763044
89alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.63175451
90Linoleic acid metabolism_Homo sapiens_hsa005910.62506561
91Renin secretion_Homo sapiens_hsa049240.58073932
92Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.57564745
93HIF-1 signaling pathway_Homo sapiens_hsa040660.56900053
94Fructose and mannose metabolism_Homo sapiens_hsa000510.56732850
95Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.54472848
96Estrogen signaling pathway_Homo sapiens_hsa049150.53631484
97Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.53106276
98Non-homologous end-joining_Homo sapiens_hsa034500.52205071
99Choline metabolism in cancer_Homo sapiens_hsa052310.50798165
100Phenylalanine metabolism_Homo sapiens_hsa003600.50544789
101Collecting duct acid secretion_Homo sapiens_hsa049660.49753458
102Alcoholism_Homo sapiens_hsa050340.48938124
103Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.48176384
104Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.47387297
105Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.47295011
106Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.47109247
107Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.45772595
108Fatty acid biosynthesis_Homo sapiens_hsa000610.45747014
109Central carbon metabolism in cancer_Homo sapiens_hsa052300.45622340
110Longevity regulating pathway - mammal_Homo sapiens_hsa042110.45424562
111Carbohydrate digestion and absorption_Homo sapiens_hsa049730.44803792
112Glycerophospholipid metabolism_Homo sapiens_hsa005640.43685074
113cAMP signaling pathway_Homo sapiens_hsa040240.43491746
114Aldosterone synthesis and secretion_Homo sapiens_hsa049250.43124474
115Peroxisome_Homo sapiens_hsa041460.43099130
116GnRH signaling pathway_Homo sapiens_hsa049120.42183368
117Thyroid hormone signaling pathway_Homo sapiens_hsa049190.40369272
118Circadian entrainment_Homo sapiens_hsa047130.39225201
119Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.35796080
120ECM-receptor interaction_Homo sapiens_hsa045120.28257177
121Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.27028429
122Amoebiasis_Homo sapiens_hsa051460.25753169
123Metabolic pathways_Homo sapiens_hsa011000.23972733
124VEGF signaling pathway_Homo sapiens_hsa043700.23096711
125Cholinergic synapse_Homo sapiens_hsa047250.22278437
126Adherens junction_Homo sapiens_hsa045200.21564386
127Gap junction_Homo sapiens_hsa045400.19745088
128Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.19183847
129Fat digestion and absorption_Homo sapiens_hsa049750.18882436
130Bile secretion_Homo sapiens_hsa049760.18223189
131FoxO signaling pathway_Homo sapiens_hsa040680.16763087
132Platelet activation_Homo sapiens_hsa046110.16348600
133MAPK signaling pathway_Homo sapiens_hsa040100.16249495
134Renal cell carcinoma_Homo sapiens_hsa052110.15450347
135Pancreatic secretion_Homo sapiens_hsa049720.15278119
136ABC transporters_Homo sapiens_hsa020100.15263424
137Tyrosine metabolism_Homo sapiens_hsa003500.15151019
138Regulation of actin cytoskeleton_Homo sapiens_hsa048100.14148916
139mTOR signaling pathway_Homo sapiens_hsa041500.13467136
140Olfactory transduction_Homo sapiens_hsa047400.10816893
141Leukocyte transendothelial migration_Homo sapiens_hsa046700.10552681
142Salivary secretion_Homo sapiens_hsa049700.10548629
143Proteoglycans in cancer_Homo sapiens_hsa052050.09220117
144Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.09215021
145Ovarian steroidogenesis_Homo sapiens_hsa049130.08397353
146Dorso-ventral axis formation_Homo sapiens_hsa043200.07696774
147Taste transduction_Homo sapiens_hsa047420.07012018
148GABAergic synapse_Homo sapiens_hsa047270.06491578
149Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.06149308
150Sulfur metabolism_Homo sapiens_hsa009200.05301256
151Long-term potentiation_Homo sapiens_hsa047200.05186819

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