KCNJ5

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: Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It may associate with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cardiac myofibril assembly (GO:0055003)9.12962190
2sarcomere organization (GO:0045214)8.65342820
3myofibril assembly (GO:0030239)7.72808603
4regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO7.26163219
5cardiac muscle contraction (GO:0060048)7.08698779
6negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.03565024
7regulation of relaxation of muscle (GO:1901077)6.93536493
8regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.72567724
9negative regulation of potassium ion transmembrane transport (GO:1901380)6.59598469
10regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)6.45857505
11actin-myosin filament sliding (GO:0033275)6.45262807
12muscle filament sliding (GO:0030049)6.45262807
13regulation of sarcomere organization (GO:0060297)6.39483669
14cardiac muscle cell development (GO:0055013)6.33619200
15cardiac muscle hypertrophy (GO:0003300)6.32393411
16positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.30718998
17cardiac muscle tissue morphogenesis (GO:0055008)6.30690540
18tricarboxylic acid cycle (GO:0006099)6.21408138
19regulation of actin filament-based movement (GO:1903115)6.12714242
20ventricular cardiac muscle tissue morphogenesis (GO:0055010)5.97522217
21cardiac cell development (GO:0055006)5.94711395
22striated muscle hypertrophy (GO:0014897)5.92889326
23adult heart development (GO:0007512)5.85981017
24bundle of His cell to Purkinje myocyte communication (GO:0086069)5.79008993
25cell communication by electrical coupling involved in cardiac conduction (GO:0086064)5.66822780
26ventricular cardiac muscle cell action potential (GO:0086005)5.58269876
27heart process (GO:0003015)5.56907209
28heart contraction (GO:0060047)5.56907209
29muscle tissue morphogenesis (GO:0060415)5.55596131
30actomyosin structure organization (GO:0031032)5.51507182
31actin-mediated cell contraction (GO:0070252)5.46551941
32muscle hypertrophy (GO:0014896)5.32695876
33regulation of the force of heart contraction (GO:0002026)5.19843578
34regulation of striated muscle contraction (GO:0006942)5.15273067
35heart trabecula formation (GO:0060347)5.08487185
36striated muscle contraction (GO:0006941)5.07992090
37negative regulation of cardiac muscle cell apoptotic process (GO:0010667)4.96943883
38regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.95993216
39cell communication involved in cardiac conduction (GO:0086065)4.95642159
40regulation of cell communication by electrical coupling (GO:0010649)4.95268648
41regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.90669095
42regulation of skeletal muscle contraction (GO:0014819)4.86623052
43regulation of cardioblast differentiation (GO:0051890)4.85201223
44cell communication by electrical coupling (GO:0010644)4.83639175
45regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.68384815
46regulation of membrane repolarization (GO:0060306)4.66778909
47relaxation of cardiac muscle (GO:0055119)4.65158103
48regulation of cardiac muscle contraction (GO:0055117)4.61703079
49sarcoplasmic reticulum calcium ion transport (GO:0070296)4.59159869
50negative regulation of striated muscle cell apoptotic process (GO:0010664)4.57892619
51behavioral response to nicotine (GO:0035095)4.49529904
52regulation of acyl-CoA biosynthetic process (GO:0050812)4.47602988
53indole-containing compound catabolic process (GO:0042436)4.43521796
54indolalkylamine catabolic process (GO:0046218)4.43521796
55tryptophan catabolic process (GO:0006569)4.43521796
56regulation of cardiac muscle cell contraction (GO:0086004)4.41853021
57cardiac chamber formation (GO:0003207)4.41781756
58negative regulation of cytosolic calcium ion concentration (GO:0051481)4.40745800
59carnitine shuttle (GO:0006853)4.33883654
60cardiac muscle adaptation (GO:0014887)4.32845756
61cardiac muscle hypertrophy in response to stress (GO:0014898)4.32845756
62muscle hypertrophy in response to stress (GO:0003299)4.32845756
63cardiac muscle cell action potential (GO:0086001)4.20807010
64regulation of heart rate (GO:0002027)4.20024006
65indolalkylamine metabolic process (GO:0006586)4.19046102
66cardiac muscle cell action potential involved in contraction (GO:0086002)4.18661760
67oxidative phosphorylation (GO:0006119)4.15039110
68regulation of cofactor metabolic process (GO:0051193)4.14395166
69regulation of coenzyme metabolic process (GO:0051196)4.14395166
70plasma membrane repair (GO:0001778)4.08479028
71actin filament-based movement (GO:0030048)4.06184389
72mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.99510061
73cardiac conduction (GO:0061337)3.98059641
74kynurenine metabolic process (GO:0070189)3.97549652
75regulation of ATP catabolic process (GO:1903289)3.91147235
76regulation of ATPase activity (GO:0043462)3.91147235
77tryptophan metabolic process (GO:0006568)3.90579876
78regulation of heart contraction (GO:0008016)3.90343346
79atrial septum morphogenesis (GO:0060413)3.88594915
80venous blood vessel morphogenesis (GO:0048845)3.81703849
81response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.79359467
82glucocorticoid biosynthetic process (GO:0006704)3.78308847
83detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.76954449
84regulation of heart rate by cardiac conduction (GO:0086091)3.75931344
85negative regulation of potassium ion transport (GO:0043267)3.72216875
86mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.71331858
87fucose catabolic process (GO:0019317)3.70058706
88L-fucose metabolic process (GO:0042354)3.70058706
89L-fucose catabolic process (GO:0042355)3.70058706
90ATP synthesis coupled proton transport (GO:0015986)3.68630558
91energy coupled proton transport, down electrochemical gradient (GO:0015985)3.68630558
92NADH metabolic process (GO:0006734)3.67401971
93respiratory electron transport chain (GO:0022904)3.65935566
94fatty acid transmembrane transport (GO:1902001)3.65446561
95positive regulation of heart rate (GO:0010460)3.62215262
96detection of calcium ion (GO:0005513)3.61656645
97ventricular cardiac muscle cell development (GO:0055015)3.59556303
98outflow tract septum morphogenesis (GO:0003148)3.56440467
99electron transport chain (GO:0022900)3.55611158
100benzene-containing compound metabolic process (GO:0042537)3.54602992
101regulation of muscle contraction (GO:0006937)3.54343101
102positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.47180171
103negative regulation of mast cell activation (GO:0033004)3.45776750
104platelet dense granule organization (GO:0060155)3.43142197
105regulation of striated muscle cell apoptotic process (GO:0010662)3.42871148
106positive regulation of heart contraction (GO:0045823)3.42792067
107response to epinephrine (GO:0071871)3.40884507
108striated muscle cell development (GO:0055002)3.36100312
109potassium ion export (GO:0071435)3.34102579
110regulation of sulfur metabolic process (GO:0042762)3.32097613
111cardiac muscle tissue development (GO:0048738)3.30814726
112cellular response to epinephrine stimulus (GO:0071872)3.29587272
113cardiac ventricle formation (GO:0003211)3.28356189
114daunorubicin metabolic process (GO:0044597)3.25861132
115doxorubicin metabolic process (GO:0044598)3.25861132
116response to pheromone (GO:0019236)3.25731699
117amine catabolic process (GO:0009310)3.21108707
118cellular biogenic amine catabolic process (GO:0042402)3.21108707
119detection of light stimulus involved in sensory perception (GO:0050962)3.13475626
120detection of light stimulus involved in visual perception (GO:0050908)3.13475626
121indole-containing compound metabolic process (GO:0042430)3.13165576
122negative regulation of systemic arterial blood pressure (GO:0003085)3.08467663
123NAD biosynthetic process (GO:0009435)3.08099138
124auditory receptor cell stereocilium organization (GO:0060088)3.01730920
125piRNA metabolic process (GO:0034587)2.95422490
126water-soluble vitamin biosynthetic process (GO:0042364)2.95061152
127photoreceptor cell maintenance (GO:0045494)2.88355628
128reflex (GO:0060004)2.86188112
129cellular ketone body metabolic process (GO:0046950)2.84025056
130phosphatidylinositol acyl-chain remodeling (GO:0036149)2.79199445
131protein K11-linked deubiquitination (GO:0035871)2.79123500
132androgen biosynthetic process (GO:0006702)2.77631616
133behavioral response to ethanol (GO:0048149)2.76665597
134protein polyglutamylation (GO:0018095)2.73725302
135epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.72065273
136membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.70453786
137positive regulation of triglyceride biosynthetic process (GO:0010867)2.70259390
138tachykinin receptor signaling pathway (GO:0007217)2.69246970
139gamma-aminobutyric acid transport (GO:0015812)2.65204543
140sulfation (GO:0051923)2.64712559
141negative regulation of reactive oxygen species metabolic process (GO:2000378)2.63482777
142intracellular pH reduction (GO:0051452)2.61795698
143regulation of cilium movement (GO:0003352)2.60660710
144positive regulation of prostaglandin secretion (GO:0032308)2.59912572
145proline transport (GO:0015824)2.59565121
146estrogen biosynthetic process (GO:0006703)2.58833064
147amino sugar catabolic process (GO:0046348)2.58821326
148neural tube formation (GO:0001841)2.58099977
149nonmotile primary cilium assembly (GO:0035058)2.56356621
150neuronal action potential (GO:0019228)2.56193872
151synaptic transmission, cholinergic (GO:0007271)2.55129281
152transepithelial transport (GO:0070633)2.54459683
153regulation of triglyceride biosynthetic process (GO:0010866)2.53211128
154ketone body metabolic process (GO:1902224)2.52642621
155adaptation of signaling pathway (GO:0023058)2.52287239
156axoneme assembly (GO:0035082)2.51972295
157DNA deamination (GO:0045006)2.50777401
158membrane depolarization during action potential (GO:0086010)2.50714434
159DNA methylation involved in gamete generation (GO:0043046)2.47930703
160primary amino compound metabolic process (GO:1901160)2.46301715
161G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.45947617
162sphingoid metabolic process (GO:0046519)2.45560097
163pyrimidine nucleobase catabolic process (GO:0006208)2.43690318
164inner ear receptor stereocilium organization (GO:0060122)2.43055351
165regulation of hippo signaling (GO:0035330)2.42462656
166cellular response to sterol (GO:0036315)2.42023684
167regulation of female gonad development (GO:2000194)2.41653288
168alanine transport (GO:0032328)2.40454086
169positive regulation of digestive system process (GO:0060456)2.38484467
170atrial cardiac muscle cell action potential (GO:0086014)2.37946912
171positive regulation of fatty acid transport (GO:2000193)2.36651364
172cAMP catabolic process (GO:0006198)2.35463014
173multicellular organism reproduction (GO:0032504)2.35146994
174glycerophospholipid catabolic process (GO:0046475)2.34403539
175cellular response to gonadotropin stimulus (GO:0071371)2.34293471
176positive regulation of developmental pigmentation (GO:0048087)2.33760844
177epithelial cilium movement (GO:0003351)2.31975278
178serotonin metabolic process (GO:0042428)2.31876627
179protein localization to cilium (GO:0061512)2.31216690
180regulation of microtubule-based movement (GO:0060632)2.31115688
181photoreceptor cell development (GO:0042461)2.30627246
182hormone biosynthetic process (GO:0042446)2.27847018
183glucocorticoid metabolic process (GO:0008211)2.26596153
184negative regulation of telomere maintenance (GO:0032205)2.24826763
185ganglioside metabolic process (GO:0001573)2.24674279
186sulfate transmembrane transport (GO:1902358)2.23903741
187aromatic amino acid family catabolic process (GO:0009074)2.23900931
188vitamin D metabolic process (GO:0042359)2.22946699
189regulation of action potential (GO:0098900)2.22607787
190cilium morphogenesis (GO:0060271)2.22457254
191negative regulation of nitric oxide biosynthetic process (GO:0045019)2.22187778
192nicotinamide nucleotide biosynthetic process (GO:0019359)2.21964471
193pyridine nucleotide biosynthetic process (GO:0019363)2.21964471
194positive regulation of organic acid transport (GO:0032892)2.19633208
195thyroid hormone metabolic process (GO:0042403)2.19476256
196retinal cone cell development (GO:0046549)2.19453841
197parturition (GO:0007567)2.19172476
198neuronal action potential propagation (GO:0019227)2.18748902

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* EP300_21415370_ChIP-Seq_HL-1_Mouse6.10093023
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.00481271
3ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.00339807
4TBX20_22080862_ChIP-Seq_HEART_Mouse3.97031622
5TBX20_22328084_ChIP-Seq_HEART_Mouse3.97031622
6RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.76622756
7MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.37849543
8BP1_19119308_ChIP-ChIP_Hs578T_Human3.28331277
9VDR_22108803_ChIP-Seq_LS180_Human3.26565140
10ESR1_20079471_ChIP-ChIP_T-47D_Human3.11343325
11GATA4_21415370_ChIP-Seq_HL-1_Mouse2.89981249
12EZH2_22144423_ChIP-Seq_EOC_Human2.82805528
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.81101430
14CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.75411085
15GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.74745045
16ZFP57_27257070_Chip-Seq_ESCs_Mouse2.60637038
17GATA1_22025678_ChIP-Seq_K562_Human2.54831103
18EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.29149890
19CDX2_19796622_ChIP-Seq_MESCs_Mouse2.28497964
20IGF1R_20145208_ChIP-Seq_DFB_Human2.24582608
21TAF15_26573619_Chip-Seq_HEK293_Human2.14836858
22PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.13553895
23CTBP2_25329375_ChIP-Seq_LNCAP_Human2.12978171
24P300_19829295_ChIP-Seq_ESCs_Human2.05950461
25FLI1_27457419_Chip-Seq_LIVER_Mouse1.91475049
26NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.91027840
27GBX2_23144817_ChIP-Seq_PC3_Human1.90811119
28* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.83761089
29CTBP1_25329375_ChIP-Seq_LNCAP_Human1.83207448
30GATA2_21666600_ChIP-Seq_HMVEC_Human1.79591203
31RARG_19884340_ChIP-ChIP_MEFs_Mouse1.73573514
32PCGF2_27294783_Chip-Seq_ESCs_Mouse1.71251057
33ER_23166858_ChIP-Seq_MCF-7_Human1.70169809
34GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.69586803
35* LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.68261464
36PIAS1_25552417_ChIP-Seq_VCAP_Human1.67586088
37FUS_26573619_Chip-Seq_HEK293_Human1.67322712
38POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.64741506
39TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.64741506
40STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.62959435
41EWS_26573619_Chip-Seq_HEK293_Human1.62608831
42SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.61166292
43SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.60525283
44* AR_25329375_ChIP-Seq_VCAP_Human1.60020169
45STAT3_23295773_ChIP-Seq_U87_Human1.58908198
46ISL1_27105846_Chip-Seq_CPCs_Mouse1.57453721
47PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.57091215
48TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.54917873
49IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.53924619
50CBP_20019798_ChIP-Seq_JUKART_Human1.53924619
51IRF8_22096565_ChIP-ChIP_GC-B_Human1.53204131
52EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.48614073
53ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.47376026
54THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.43308458
55NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.43181211
56TRIM28_21343339_ChIP-Seq_HEK293_Human1.42513118
57* SOX2_19829295_ChIP-Seq_ESCs_Human1.38309691
58* NANOG_19829295_ChIP-Seq_ESCs_Human1.38309691
59SMAD4_21741376_ChIP-Seq_EPCs_Human1.37982568
60EZH2_27304074_Chip-Seq_ESCs_Mouse1.35478023
61SUZ12_27294783_Chip-Seq_NPCs_Mouse1.35431134
62SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.35210501
63SRF_21415370_ChIP-Seq_HL-1_Mouse1.34351734
64MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.34221365
65DROSHA_22980978_ChIP-Seq_HELA_Human1.34154968
66* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34050537
67EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.33955456
68AR_21572438_ChIP-Seq_LNCaP_Human1.33888634
69* TCF4_22108803_ChIP-Seq_LS180_Human1.32203090
70MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.30543494
71TP53_22573176_ChIP-Seq_HFKS_Human1.29506872
72EZH2_27294783_Chip-Seq_NPCs_Mouse1.27693682
73TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.27028964
74TOP2B_26459242_ChIP-Seq_MCF-7_Human1.25973702
75RUNX2_22187159_ChIP-Seq_PCA_Human1.24473841
76NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23748716
77KLF5_20875108_ChIP-Seq_MESCs_Mouse1.23632944
78FLI1_21867929_ChIP-Seq_TH2_Mouse1.22914280
79SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.22594352
80PRDM14_20953172_ChIP-Seq_ESCs_Human1.22151416
81NFE2_27457419_Chip-Seq_LIVER_Mouse1.21504380
82PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.21128575
83* REST_21632747_ChIP-Seq_MESCs_Mouse1.20733985
84SMAD4_21799915_ChIP-Seq_A2780_Human1.20349524
85CRX_20693478_ChIP-Seq_RETINA_Mouse1.18951245
86CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.18536975
87PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.17745693
88BCAT_22108803_ChIP-Seq_LS180_Human1.17313496
89SMAD3_21741376_ChIP-Seq_HESCs_Human1.16793135
90CBX2_27304074_Chip-Seq_ESCs_Mouse1.16735946
91EZH2_18974828_ChIP-Seq_MESCs_Mouse1.14200452
92RNF2_18974828_ChIP-Seq_MESCs_Mouse1.14200452
93HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.13876136
94* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13568280
95VDR_24787735_ChIP-Seq_THP-1_Human1.13046730
96FOXA1_21572438_ChIP-Seq_LNCaP_Human1.12317336
97EED_16625203_ChIP-ChIP_MESCs_Mouse1.09450114
98BMI1_23680149_ChIP-Seq_NPCS_Mouse1.09327285
99IRF1_19129219_ChIP-ChIP_H3396_Human1.08028912
100TCF4_18268006_ChIP-ChIP_LS174T_Human1.07383763
101GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.07090698
102PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.06993571
103* GATA3_21878914_ChIP-Seq_MCF-7_Human1.06480596
104ZNF274_21170338_ChIP-Seq_K562_Hela1.06275632
105POU3F2_20337985_ChIP-ChIP_501MEL_Human1.06267237
106WT1_19549856_ChIP-ChIP_CCG9911_Human1.06140053
107SMAD4_21741376_ChIP-Seq_HESCs_Human1.06114599
108NANOG_18555785_Chip-Seq_ESCs_Mouse1.05309101
109EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.05146492
110GATA1_19941826_ChIP-Seq_K562_Human1.05055148
111TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.05039894
112SMAD_19615063_ChIP-ChIP_OVARY_Human1.04984445
113* CDX2_22108803_ChIP-Seq_LS180_Human1.04719101
114ETV2_25802403_ChIP-Seq_MESCs_Mouse1.04450799
115* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.04402232
116MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.04386406
117PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.03531992
118GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.03271491
119HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.03224223
120NOTCH1_21737748_ChIP-Seq_TLL_Human1.02978756
121IRF8_21731497_ChIP-ChIP_J774_Mouse1.02435160
122TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.02097970
123OCT4_21477851_ChIP-Seq_ESCs_Mouse1.01589735
124FOXA1_27270436_Chip-Seq_PROSTATE_Human1.01519153
125FOXA1_25329375_ChIP-Seq_VCAP_Human1.01519153
126SOX2_21211035_ChIP-Seq_LN229_Gbm1.01382509
127ZNF263_19887448_ChIP-Seq_K562_Human1.01284747
128CTNNB1_20460455_ChIP-Seq_HCT116_Human1.01280134
129RNF2_27304074_Chip-Seq_NSC_Mouse1.00958885
130AR_20517297_ChIP-Seq_VCAP_Human1.00295482
131MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00184503
132TP53_16413492_ChIP-PET_HCT116_Human0.99718411
133* GATA1_19941827_ChIP-Seq_MEL_Mouse0.99364096
134TAL1_26923725_Chip-Seq_HPCs_Mouse0.98595558
135EZH2_27294783_Chip-Seq_ESCs_Mouse0.97834136
136HOXB7_26014856_ChIP-Seq_BT474_Human0.97714919
137CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96912110
138NRF2_20460467_ChIP-Seq_MEFs_Mouse0.96878224
139TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.96325248
140MTF2_20144788_ChIP-Seq_MESCs_Mouse0.95044189
141TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.91644563
142TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.91262439
143GATA2_19941826_ChIP-Seq_K562_Human0.91012338
144GF1_26923725_Chip-Seq_HPCs_Mouse0.90860958
145CJUN_26792858_Chip-Seq_BT549_Human0.90456797
146WT1_25993318_ChIP-Seq_PODOCYTE_Human0.89579013
147PCGF2_27294783_Chip-Seq_NPCs_Mouse0.89480687
148UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.89253451
149SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.87353954
150* GATA1_19941827_ChIP-Seq_MEL86_Mouse0.86275817
151SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.85883658
152SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.85756739
153JARID2_20064375_ChIP-Seq_MESCs_Mouse0.85426516
154AHR_22903824_ChIP-Seq_MCF-7_Human0.85319508
155PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.84660168
156NR3C1_21868756_ChIP-Seq_MCF10A_Human0.84486552
157DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.84368587
158* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83917190
159AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83103796
160HIF1A_21447827_ChIP-Seq_MCF-7_Human0.82913779
161TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.81272989
162SMAD3_21741376_ChIP-Seq_EPCs_Human0.79056108
163SPI1_23127762_ChIP-Seq_K562_Human0.78206416
164* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.74928231
165AR_19668381_ChIP-Seq_PC3_Human0.74089826
166TCF4_23295773_ChIP-Seq_U87_Human0.73766008
167PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.73566800
168CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.72704433
169ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.72253702
170KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.72036750
171NFI_21473784_ChIP-Seq_ESCs_Mouse0.70962278
172NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.70693432
173LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.70468383

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004084_abnormal_cardiac_muscle6.63424768
2MP0002837_dystrophic_cardiac_calcinosis6.20187482
3MP0004215_abnormal_myocardial_fiber5.30452008
4MP0003646_muscle_fatigue4.71679006
5MP0004036_abnormal_muscle_relaxation4.52535590
6MP0000751_myopathy4.36220381
7MP0005330_cardiomyopathy4.06874773
8MP0000749_muscle_degeneration3.67280943
9MP0002972_abnormal_cardiac_muscle3.61209126
10MP0008775_abnormal_heart_ventricle3.52944025
11MP0003137_abnormal_impulse_conducting3.27581178
12MP0001544_abnormal_cardiovascular_syste2.89808542
13MP0005385_cardiovascular_system_phenoty2.89808542
14MP0010630_abnormal_cardiac_muscle2.89007095
15MP0003195_calcinosis2.86145232
16MP0004087_abnormal_muscle_fiber2.85365648
17MP0005620_abnormal_muscle_contractility2.84355912
18MP0004484_altered_response_of2.82714001
19MP0003828_pulmonary_edema2.80017320
20MP0006138_congestive_heart_failure2.74451004
21MP0002102_abnormal_ear_morphology2.68114023
22MP0004510_myositis2.63313347
23* MP0004085_abnormal_heartbeat2.61508840
24MP0002138_abnormal_hepatobiliary_system2.57007596
25MP0000569_abnormal_digit_pigmentation2.54428219
26MP0005551_abnormal_eye_electrophysiolog2.43983738
27MP0003136_yellow_coat_color2.26875164
28MP0002127_abnormal_cardiovascular_syste2.26055279
29MP0002106_abnormal_muscle_physiology2.24848075
30MP0000750_abnormal_muscle_regeneration2.12056611
31MP0001968_abnormal_touch/_nociception2.10379859
32MP0003221_abnormal_cardiomyocyte_apopto2.06060341
33MP0004130_abnormal_muscle_cell2.03326337
34MP0009046_muscle_twitch1.98547473
35MP0001485_abnormal_pinna_reflex1.96947896
36MP0001501_abnormal_sleep_pattern1.96557445
37MP0005167_abnormal_blood-brain_barrier1.91907212
38MP0002269_muscular_atrophy1.89335091
39MP0005253_abnormal_eye_physiology1.85708122
40MP0004145_abnormal_muscle_electrophysio1.85660224
41MP0003567_abnormal_fetal_cardiomyocyte1.81004479
42MP0005369_muscle_phenotype1.80758188
43MP0008875_abnormal_xenobiotic_pharmacok1.75180297
44MP0003950_abnormal_plasma_membrane1.66621322
45MP0010386_abnormal_urinary_bladder1.66312127
46MP0006036_abnormal_mitochondrial_physio1.61703263
47MP0001486_abnormal_startle_reflex1.58813770
48MP0008877_abnormal_DNA_methylation1.58790583
49MP0000759_abnormal_skeletal_muscle1.53674005
50MP0009745_abnormal_behavioral_response1.52284891
51MP0004233_abnormal_muscle_weight1.50352030
52MP0010368_abnormal_lymphatic_system1.47292605
53MP0002090_abnormal_vision1.46598212
54MP0002736_abnormal_nociception_after1.45238222
55MP0003011_delayed_dark_adaptation1.42583043
56MP0002254_reproductive_system_inflammat1.41404459
57MP0002332_abnormal_exercise_endurance1.41175752
58MP0001986_abnormal_taste_sensitivity1.40395680
59MP0006276_abnormal_autonomic_nervous1.40282804
60MP0000372_irregular_coat_pigmentation1.39016064
61MP0002653_abnormal_ependyma_morphology1.38759115
62MP0002876_abnormal_thyroid_physiology1.35547499
63MP0006082_CNS_inflammation1.35044954
64MP0002272_abnormal_nervous_system1.34278957
65MP0002229_neurodegeneration1.30118849
66MP0005410_abnormal_fertilization1.29737343
67MP0000266_abnormal_heart_morphology1.29457457
68MP0003172_abnormal_lysosome_physiology1.28914512
69MP0002064_seizures1.27103169
70MP0003880_abnormal_central_pattern1.24874344
71MP0002572_abnormal_emotion/affect_behav1.24785246
72MP0000747_muscle_weakness1.24719261
73MP0000343_altered_response_to1.24300661
74MP0002557_abnormal_social/conspecific_i1.22018076
75MP0005365_abnormal_bile_salt1.21704098
76MP0001970_abnormal_pain_threshold1.21422265
77MP0005165_increased_susceptibility_to1.19802590
78MP0000427_abnormal_hair_cycle1.19108353
79MP0009764_decreased_sensitivity_to1.18792725
80MP0005645_abnormal_hypothalamus_physiol1.17768192
81MP0000639_abnormal_adrenal_gland1.14007933
82MP0005310_abnormal_salivary_gland1.13447100
83MP0000230_abnormal_systemic_arterial1.10381729
84MP0002733_abnormal_thermal_nociception1.10099327
85MP0002638_abnormal_pupillary_reflex1.09957666
86MP0000383_abnormal_hair_follicle1.09714314
87MP0004742_abnormal_vestibular_system1.08646363
88MP0000631_abnormal_neuroendocrine_gland1.08607085
89MP0009840_abnormal_foam_cell1.08079903
90MP0008872_abnormal_physiological_respon1.07982576
91MP0001324_abnormal_eye_pigmentation1.07773519
92MP0000604_amyloidosis1.07601300
93MP0003879_abnormal_hair_cell1.06049823
94MP0002735_abnormal_chemical_nociception1.05045372
95MP0000538_abnormal_urinary_bladder1.03287042
96MP0002067_abnormal_sensory_capabilities1.01895440
97MP0005670_abnormal_white_adipose1.01839304
98MP0003279_aneurysm1.00786974
99MP0003633_abnormal_nervous_system1.00005593
100MP0005058_abnormal_lysosome_morphology0.98678968
101MP0001963_abnormal_hearing_physiology0.97648674
102MP0004133_heterotaxia0.95389792
103MP0008995_early_reproductive_senescence0.94911402
104MP0005085_abnormal_gallbladder_physiolo0.94361774
105MP0005195_abnormal_posterior_eye0.92870441
106MP0004885_abnormal_endolymph0.92560369
107MP0004019_abnormal_vitamin_homeostasis0.92545931
108MP0005174_abnormal_tail_pigmentation0.90221647
109MP0006035_abnormal_mitochondrial_morpho0.89739465
110MP0000026_abnormal_inner_ear0.89208347
111MP0001879_abnormal_lymphatic_vessel0.88750642
112MP0004142_abnormal_muscle_tone0.88028361
113MP0002938_white_spotting0.86474708
114MP0003566_abnormal_cell_adhesion0.86246341
115MP0002128_abnormal_blood_circulation0.86152884
116MP0002148_abnormal_hypersensitivity_rea0.84728356
117MP0004147_increased_porphyrin_level0.82688179
118MP0003122_maternal_imprinting0.82066664
119MP0002234_abnormal_pharynx_morphology0.81929006
120MP0003724_increased_susceptibility_to0.81360643
121MP0000647_abnormal_sebaceous_gland0.79432984
122MP0004043_abnormal_pH_regulation0.78578609
123MP0005084_abnormal_gallbladder_morpholo0.76625276
124MP0003632_abnormal_nervous_system0.76391843
125MP0006054_spinal_hemorrhage0.75705260
126MP0005666_abnormal_adipose_tissue0.75275311
127MP0002063_abnormal_learning/memory/cond0.75186774
128MP0005647_abnormal_sex_gland0.74921355
129MP0003631_nervous_system_phenotype0.74874701
130MP0005451_abnormal_body_composition0.71682021
131MP0002909_abnormal_adrenal_gland0.70768554
132MP0000767_abnormal_smooth_muscle0.70301322
133MP0005266_abnormal_metabolism0.70300646
134MP0003941_abnormal_skin_development0.63518881
135MP0001984_abnormal_olfaction0.60730182
136MP0005623_abnormal_meninges_morphology0.59433831
137MP0002925_abnormal_cardiovascular_devel0.57187369
138MP0005377_hearing/vestibular/ear_phenot0.56666962
139MP0003878_abnormal_ear_physiology0.56666962
140MP0009697_abnormal_copulation0.55622534
141MP0005595_abnormal_vascular_smooth0.54554868
142MP0002108_abnormal_muscle_morphology0.54280590
143MP0008004_abnormal_stomach_pH0.52428343
144MP0003984_embryonic_growth_retardation0.49940674
145MP0004272_abnormal_basement_membrane0.48696919
146MP0002088_abnormal_embryonic_growth/wei0.48195992
147MP0005319_abnormal_enzyme/_coenzyme0.45351043
148MP0002078_abnormal_glucose_homeostasis0.45023083
149MP0001784_abnormal_fluid_regulation0.43430168
150MP0001614_abnormal_blood_vessel0.42185433
151MP0005375_adipose_tissue_phenotype0.40939499
152MP0000566_synostosis0.40647449
153MP0003948_abnormal_gas_homeostasis0.38396026
154MP0005386_behavior/neurological_phenoty0.37946081
155MP0004924_abnormal_behavior0.37946081
156MP0001529_abnormal_vocalization0.33339966
157MP0002133_abnormal_respiratory_system0.31237617
158MP0005388_respiratory_system_phenotype0.31237617
159MP0005646_abnormal_pituitary_gland0.30613753
160MP0005535_abnormal_body_temperature0.29426664
161MP0005503_abnormal_tendon_morphology0.28407883
162MP0002822_catalepsy0.26925904
163MP0001765_abnormal_ion_homeostasis0.25923043
164MP0006072_abnormal_retinal_apoptosis0.22982299
165MP0009384_cardiac_valve_regurgitation0.22698151
166MP0000249_abnormal_blood_vessel0.21430529
167MP0005380_embryogenesis_phenotype0.20473872
168MP0001672_abnormal_embryogenesis/_devel0.20473872
169MP0003953_abnormal_hormone_level0.20402845
170MP0002877_abnormal_melanocyte_morpholog0.20311261
171MP0003935_abnormal_craniofacial_develop0.19634815
172MP0000003_abnormal_adipose_tissue0.18965449
173MP0005187_abnormal_penis_morphology0.17471996
174MP0001853_heart_inflammation0.17311236
175MP0009780_abnormal_chondrocyte_physiolo0.16416197
176MP0002693_abnormal_pancreas_physiology0.15352923
177MP0001175_abnormal_lung_morphology0.14995253

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)8.96290931
2Ventricular tachycardia (HP:0004756)7.54743167
3* Atrial fibrillation (HP:0005110)7.22099196
4* Primary atrial arrhythmia (HP:0001692)6.71183244
5* Supraventricular tachycardia (HP:0004755)6.48726627
6* Supraventricular arrhythmia (HP:0005115)6.33014363
7Calf muscle hypertrophy (HP:0008981)6.19594853
8Lipoatrophy (HP:0100578)5.95309480
9* Syncope (HP:0001279)5.46734230
10Muscle hypertrophy of the lower extremities (HP:0008968)5.44156429
11Right ventricular cardiomyopathy (HP:0011663)5.40545931
12Exercise-induced muscle cramps (HP:0003710)5.38311427
13Abnormality of the left ventricular outflow tract (HP:0011103)5.29261664
14Subaortic stenosis (HP:0001682)5.29261664
15Palpitations (HP:0001962)5.20660031
16Abnormality of the calf musculature (HP:0001430)5.18200041
17Exercise-induced myalgia (HP:0003738)4.93214954
18Dilated cardiomyopathy (HP:0001644)4.92989502
19Myoglobinuria (HP:0002913)4.78488970
20* Prolonged QT interval (HP:0001657)4.69291619
21Ventricular arrhythmia (HP:0004308)4.63933937
22Bundle branch block (HP:0011710)4.44204708
23Muscle fiber splitting (HP:0003555)4.41725066
24Abnormality of glycosphingolipid metabolism (HP:0004343)4.39796857
25Abnormality of glycolipid metabolism (HP:0010969)4.39796857
26Abnormality of liposaccharide metabolism (HP:0010968)4.39796857
27Pancreatic cysts (HP:0001737)4.33342042
28Ventricular fibrillation (HP:0001663)4.00881030
29Hyporeflexia of lower limbs (HP:0002600)3.95069297
30Hyperventilation (HP:0002883)3.93380366
31Asymmetric septal hypertrophy (HP:0001670)3.85829095
32Increased cerebral lipofuscin (HP:0011813)3.76154816
33Pancreatic fibrosis (HP:0100732)3.72622067
34Abolished electroretinogram (ERG) (HP:0000550)3.71540698
35Increased neuronal autofluorescent lipopigment (HP:0002074)3.71362619
36Congenital stationary night blindness (HP:0007642)3.62282391
37EMG: myopathic abnormalities (HP:0003458)3.62245089
38True hermaphroditism (HP:0010459)3.61329195
39Abnormality of midbrain morphology (HP:0002418)3.59066788
40Molar tooth sign on MRI (HP:0002419)3.59066788
41Left ventricular hypertrophy (HP:0001712)3.58822881
42* Abnormal EKG (HP:0003115)3.58790223
43* Heart block (HP:0012722)3.42550405
44Vacuolated lymphocytes (HP:0001922)3.41576522
45Rhabdomyolysis (HP:0003201)3.36101411
46Abnormal mitochondria in muscle tissue (HP:0008316)3.31660856
47Hepatic necrosis (HP:0002605)3.29306567
48Acute necrotizing encephalopathy (HP:0006965)3.27686320
49Nephronophthisis (HP:0000090)3.23646022
50* Abnormal atrioventricular conduction (HP:0005150)3.16915732
51* Atrioventricular block (HP:0001678)3.14835515
52Hypoglycemic coma (HP:0001325)3.14626881
53Congenital sensorineural hearing impairment (HP:0008527)3.09745476
54Type II lissencephaly (HP:0007260)3.08553076
55Abnormality of the renal cortex (HP:0011035)3.03973370
56Abnormality of the renal medulla (HP:0100957)3.01533756
57Abnormality of alanine metabolism (HP:0010916)2.99956205
58Hyperalaninemia (HP:0003348)2.99956205
59Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.99956205
60Attenuation of retinal blood vessels (HP:0007843)2.93970731
61Palmoplantar keratoderma (HP:0000982)2.91519150
62Medial flaring of the eyebrow (HP:0010747)2.90337674
63Tubular atrophy (HP:0000092)2.87482614
64Ketoacidosis (HP:0001993)2.81149611
65Ragged-red muscle fibers (HP:0003200)2.75055633
66Hepatocellular necrosis (HP:0001404)2.73640720
67Decreased electroretinogram (ERG) amplitude (HP:0000654)2.71986246
68Acute encephalopathy (HP:0006846)2.69057042
69Myotonia (HP:0002486)2.67454202
70Mitochondrial inheritance (HP:0001427)2.65838168
71Progressive macrocephaly (HP:0004481)2.64342619
72Increased connective tissue (HP:0009025)2.64213118
73Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.62321778
74Increased CSF lactate (HP:0002490)2.59770486
75Distal lower limb muscle weakness (HP:0009053)2.59650650
76Gaze-evoked nystagmus (HP:0000640)2.57537849
77Hypoplastic left heart (HP:0004383)2.57359391
78Cystic liver disease (HP:0006706)2.51943491
79Abnormality of fatty-acid metabolism (HP:0004359)2.48209218
80Tubulointerstitial fibrosis (HP:0005576)2.47466387
81Cerebellar dysplasia (HP:0007033)2.44593164
82Sudden cardiac death (HP:0001645)2.41616251
83Patent foramen ovale (HP:0001655)2.41599680
84Congenital hepatic fibrosis (HP:0002612)2.41233130
85Abnormality of dicarboxylic acid metabolism (HP:0010995)2.40745759
86Dicarboxylic aciduria (HP:0003215)2.40745759
87Chronic hepatic failure (HP:0100626)2.40735102
88Genetic anticipation (HP:0003743)2.40079061
89Inability to walk (HP:0002540)2.39832893
90Exercise intolerance (HP:0003546)2.37838846
91Mutism (HP:0002300)2.37281285
92Progressive cerebellar ataxia (HP:0002073)2.34246626
93* Decreased circulating renin level (HP:0003351)2.33448778
94Neoplasm of the adrenal gland (HP:0100631)2.31781810
95Lactic acidosis (HP:0003128)2.31514678
96Agitation (HP:0000713)2.31238477
97Abnormal rod and cone electroretinograms (HP:0008323)2.29998713
98Increased muscle lipid content (HP:0009058)2.28325755
99Gait imbalance (HP:0002141)2.26873078
100Absent speech (HP:0001344)2.26564720
101Mesangial abnormality (HP:0001966)2.26001042
102Hypoplasia of the uterus (HP:0000013)2.25409603
103Double outlet right ventricle (HP:0001719)2.24914111
104Congenital malformation of the right heart (HP:0011723)2.24914111
105Clumsiness (HP:0002312)2.23117404
106Generalized aminoaciduria (HP:0002909)2.22668084
107Cerebral edema (HP:0002181)2.22475894
108Central scotoma (HP:0000603)2.21820110
109Pheochromocytoma (HP:0002666)2.18133161
110Congenital primary aphakia (HP:0007707)2.17985824
111Abnormal biliary tract physiology (HP:0012439)2.17739528
112Bile duct proliferation (HP:0001408)2.17739528
113Hyperinsulinemic hypoglycemia (HP:0000825)2.17725449
114Conjunctival hamartoma (HP:0100780)2.15310876
115Progressive inability to walk (HP:0002505)2.14628487
116Pancreatic islet-cell hyperplasia (HP:0004510)2.13973833
117Protruding tongue (HP:0010808)2.13660490
118Aplasia/hypoplasia of the uterus (HP:0008684)2.12423397
119Aplasia/Hypoplasia of the tibia (HP:0005772)2.12190392
120Fair hair (HP:0002286)2.11132755
121Stomach cancer (HP:0012126)2.10328496
122Epidermoid cyst (HP:0200040)2.10235202
123* Abnormal drinking behavior (HP:0030082)2.07905099
124* Polydipsia (HP:0001959)2.07905099
125Hypokalemic alkalosis (HP:0001949)2.07256634
126Decreased central vision (HP:0007663)2.07246185
127Amelogenesis imperfecta (HP:0000705)2.07130507
128Esophageal neoplasm (HP:0100751)2.06244642
129Neoplasm of head and neck (HP:0012288)2.06244642
130Male pseudohermaphroditism (HP:0000037)2.05655755
131Increased corneal curvature (HP:0100692)2.05395289
132Keratoconus (HP:0000563)2.05395289
133Nephrogenic diabetes insipidus (HP:0009806)2.05172195
134Neuroendocrine neoplasm (HP:0100634)2.05072168
135Tubulointerstitial abnormality (HP:0001969)2.05033809
136Increased intramyocellular lipid droplets (HP:0012240)2.05011685
137* Congestive heart failure (HP:0001635)2.04327390
138Retinal atrophy (HP:0001105)2.02212744
139Respiratory failure (HP:0002878)1.99866439
140Bony spicule pigmentary retinopathy (HP:0007737)1.99065281
141Genital tract atresia (HP:0001827)1.98539251
142Abnormality of macular pigmentation (HP:0008002)1.98212585
143Centrally nucleated skeletal muscle fibers (HP:0003687)1.98159271
144Large for gestational age (HP:0001520)1.97792183
145Polyphagia (HP:0002591)1.96882493
146Hypoplastic heart (HP:0001961)1.95994299
147Severe muscular hypotonia (HP:0006829)1.95805133
148Areflexia of lower limbs (HP:0002522)1.95736477
149Neck muscle weakness (HP:0000467)1.95494763
150Generalized muscle weakness (HP:0003324)1.95227664
151Broad-based gait (HP:0002136)1.95134509
152Renal cortical cysts (HP:0000803)1.92932762
153Renal salt wasting (HP:0000127)1.92635719
154Tinnitus (HP:0000360)1.92630041
155Vaginal atresia (HP:0000148)1.91635214
156Rimmed vacuoles (HP:0003805)1.90846643
157Aplasia/Hypoplasia of the tongue (HP:0010295)1.90714965
158Nausea (HP:0002018)1.89835064
159Inappropriate behavior (HP:0000719)1.89348931
160Macular degeneration (HP:0000608)1.89086927
161Constricted visual fields (HP:0001133)1.88582660
162Anencephaly (HP:0002323)1.87913101
163Pulmonary artery stenosis (HP:0004415)1.87499404
164Difficulty running (HP:0009046)1.85037288
165Autoimmune thrombocytopenia (HP:0001973)1.84920740
166Congenital, generalized hypertrichosis (HP:0004540)1.84404099
167Abnormality of mucopolysaccharide metabolism (HP:0011020)1.84397391
168Abnormality of polysaccharide metabolism (HP:0011012)1.84397391
169Abnormality of glycosaminoglycan metabolism (HP:0004371)1.84397391
170Bradycardia (HP:0001662)1.83758409
171Retinitis pigmentosa (HP:0000510)1.83595824
172Widely spaced teeth (HP:0000687)1.83347386
173Pendular nystagmus (HP:0012043)1.83046009
174Absent rod-and cone-mediated responses on ERG (HP:0007688)1.82310076
175Dialeptic seizures (HP:0011146)1.82002515
176Disinhibition (HP:0000734)1.81669458
177* Polyuria (HP:0000103)1.79170341
178Diaphragmatic weakness (HP:0009113)1.78967960
179Dysostosis multiplex (HP:0000943)1.78771980
180Febrile seizures (HP:0002373)1.78482524
181Lipid accumulation in hepatocytes (HP:0006561)1.77521573
182Abnormality of the foot musculature (HP:0001436)1.77118468
183Furrowed tongue (HP:0000221)1.76896527
184Prostate neoplasm (HP:0100787)1.76467809
185Hyperglycemia (HP:0003074)1.74792904
186Abnormality of the endocardium (HP:0004306)1.74282592
187Disproportionate short-trunk short stature (HP:0003521)1.72853105
188Preauricular pit (HP:0004467)1.71612804
189Periauricular skin pits (HP:0100277)1.71612804
190Dysmetric saccades (HP:0000641)1.71198446
191Hypoplastic ischia (HP:0003175)1.71136570
192Ketosis (HP:0001946)1.70890352
193Muscle stiffness (HP:0003552)1.70623885

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK6.34307168
2OBSCN5.43934704
3MYLK4.98958924
4TTN4.04962315
5ACVR1B3.75572403
6BMPR1B3.40480582
7STK243.39999398
8LMTK23.38991856
9TIE13.17754009
10PKN23.13833341
11PDK33.08680124
12PDK43.08680124
13PHKG22.99217646
14PHKG12.99217646
15DMPK2.86922626
16WNK32.78594982
17PIK3CA2.46463225
18INSRR2.45189626
19MUSK2.33348947
20ZAK2.13255303
21MAP4K22.02193565
22PINK11.91177123
23PDK21.89492361
24NEK11.89399644
25DAPK21.86030734
26FLT31.85248651
27BCKDK1.82089568
28GRK11.82017088
29TLK11.80901608
30TGFBR11.75597073
31NUAK11.70750305
32GRK71.69820809
33STK38L1.67986281
34OXSR11.64148047
35TAOK31.58911984
36MAPK131.52355484
37CAMK2D1.46001595
38MKNK21.40932398
39MAP3K41.36816192
40WNK41.35366254
41ILK1.34927973
42CAMKK21.26957603
43STK41.26861777
44TRIB31.26145379
45PAK31.23700199
46SIK31.21311955
47CDC42BPA1.19746514
48MARK11.15490126
49PRKD11.07907294
50NTRK31.06595829
51ROCK11.05572736
52TRPM71.05472666
53TXK1.00226841
54IRAK10.95670982
55MAP3K50.95365232
56CSNK1A1L0.93394195
57KDR0.93042373
58CSNK1G20.92367311
59MAP3K70.88705633
60PRKAA20.86769053
61MAPK120.86058756
62PRKCG0.85242362
63CAMK10.84423485
64CAMK40.84270000
65PRKAA10.84126607
66IKBKB0.81075900
67CAMK1D0.80708418
68MAP2K60.80618189
69MKNK10.80119329
70FER0.78473522
71AKT30.78281581
72WNK10.76269658
73TGFBR20.75039312
74CSNK1G30.74662203
75CSNK1G10.72685989
76DYRK20.72501224
77PLK20.71720341
78DAPK30.69837248
79EIF2AK30.69338622
80CAMK1G0.69287022
81PRKCE0.69252771
82CAMK2A0.66350509
83TRIM280.65555014
84BRSK20.63773105
85RPS6KC10.63589258
86RPS6KL10.63589258
87SIK10.62021477
88MAPKAPK50.61306844
89BLK0.58198704
90SGK20.58113353
91BCR0.57250475
92RPS6KA60.55131131
93SGK30.51122334
94DDR20.51024013
95STK380.49792928
96EPHA30.47037714
97CHUK0.46921059
98* PRKACA0.46358690
99PRKACB0.45732583
100RIPK10.45640166
101RPS6KA50.44682624
102MATK0.44185601
103NLK0.44122898
104NEK90.43490710
105MAP2K70.43183898
106MAPK70.42838074
107PTK2B0.41871108
108TEC0.40969540
109PRKACG0.40692347
110ABL20.40628950
111TNK20.40351348
112MAP2K30.39856930
113CSNK1A10.39428504
114ITK0.38832173
115ABL10.38090188
116MARK30.37569178
117PRKG20.37298053
118NTRK20.36236600
119ROCK20.34612708
120PKN10.32046031
121STK390.30274089
122PRKG10.30041118
123ADRBK20.29442319
124IGF1R0.29119899
125SYK0.26407534
126PRKCZ0.25847908
127STK30.25292021
128EPHB20.24887777
129AKT20.24348982
130PRKCH0.24101548
131ERBB30.22638922
132MAP3K30.22566135
133CAMK2G0.21492886
134TNIK0.21071313
135CASK0.17224767
136JAK10.16912153
137ADRBK10.15955990
138PRPF4B0.15614588
139LATS10.14479873
140SGK10.13451096
141PRKCQ0.12757003
142SGK4940.11936702
143SGK2230.11936702
144MAPKAPK30.09943018
145AKT10.09890515
146RPS6KA20.08869997
147RPS6KA10.08831827
148MARK20.08245901
149TAOK20.07829839
150RPS6KA30.07172741
151KIT0.07096787
152PRKCA0.06958034
153PDK10.05621327
154PDGFRA0.05611664

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000206.26277331
2Cardiac muscle contraction_Homo sapiens_hsa042604.82623555
3Dilated cardiomyopathy_Homo sapiens_hsa054144.28454147
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.21873108
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.93950523
6Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006033.57980922
7Parkinsons disease_Homo sapiens_hsa050123.33057341
8Oxidative phosphorylation_Homo sapiens_hsa001903.22236265
9Propanoate metabolism_Homo sapiens_hsa006402.88755521
10Fatty acid degradation_Homo sapiens_hsa000712.67988457
11Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.67389725
12Phototransduction_Homo sapiens_hsa047442.47394370
13alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.46678527
14Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.46481803
15Alzheimers disease_Homo sapiens_hsa050102.36700344
16Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.36408756
17Lysosome_Homo sapiens_hsa041422.35174440
18Carbon metabolism_Homo sapiens_hsa012002.25723482
19Linoleic acid metabolism_Homo sapiens_hsa005912.21637744
20Nitrogen metabolism_Homo sapiens_hsa009102.18536843
21Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.13923312
22Ether lipid metabolism_Homo sapiens_hsa005652.10105678
23Huntingtons disease_Homo sapiens_hsa050162.08074972
24Primary bile acid biosynthesis_Homo sapiens_hsa001202.02680536
25Asthma_Homo sapiens_hsa053101.99291522
26Fatty acid metabolism_Homo sapiens_hsa012121.96914638
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.93589076
28Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.89148027
29Collecting duct acid secretion_Homo sapiens_hsa049661.88722427
30Selenocompound metabolism_Homo sapiens_hsa004501.82950889
31Glycosaminoglycan degradation_Homo sapiens_hsa005311.81800805
32Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.71159994
33Nicotine addiction_Homo sapiens_hsa050331.70723598
34Viral myocarditis_Homo sapiens_hsa054161.69696354
35Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.63385941
36Steroid hormone biosynthesis_Homo sapiens_hsa001401.61820493
37Pyruvate metabolism_Homo sapiens_hsa006201.58494124
38Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.56068356
39Rheumatoid arthritis_Homo sapiens_hsa053231.54248141
40Staphylococcus aureus infection_Homo sapiens_hsa051501.51594643
41ABC transporters_Homo sapiens_hsa020101.44601011
42Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.30468814
43Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.29204598
44cGMP-PKG signaling pathway_Homo sapiens_hsa040221.24682229
45Other glycan degradation_Homo sapiens_hsa005111.16571163
46Sphingolipid metabolism_Homo sapiens_hsa006001.09309282
47Dorso-ventral axis formation_Homo sapiens_hsa043201.04463579
48Butanoate metabolism_Homo sapiens_hsa006501.03972628
49Regulation of autophagy_Homo sapiens_hsa041401.01725411
50Fatty acid elongation_Homo sapiens_hsa000621.00365131
51Mineral absorption_Homo sapiens_hsa049780.98385072
52Insulin resistance_Homo sapiens_hsa049310.97168436
53Calcium signaling pathway_Homo sapiens_hsa040200.95551833
54Graft-versus-host disease_Homo sapiens_hsa053320.95142897
55Autoimmune thyroid disease_Homo sapiens_hsa053200.94639554
56Glycerolipid metabolism_Homo sapiens_hsa005610.94350097
57Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.93790907
58Caffeine metabolism_Homo sapiens_hsa002320.92206679
59Type I diabetes mellitus_Homo sapiens_hsa049400.91770311
60Glucagon signaling pathway_Homo sapiens_hsa049220.91155095
61Glutamatergic synapse_Homo sapiens_hsa047240.91116061
62Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.90975690
63Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.89169947
64Histidine metabolism_Homo sapiens_hsa003400.89095425
65Chemical carcinogenesis_Homo sapiens_hsa052040.88374158
66Salivary secretion_Homo sapiens_hsa049700.88052231
67Olfactory transduction_Homo sapiens_hsa047400.86915286
68Aldosterone synthesis and secretion_Homo sapiens_hsa049250.84669835
69Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.83909706
70Sulfur metabolism_Homo sapiens_hsa009200.82740923
71Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.82395110
72Biosynthesis of amino acids_Homo sapiens_hsa012300.80823065
73* Serotonergic synapse_Homo sapiens_hsa047260.80717507
74Starch and sucrose metabolism_Homo sapiens_hsa005000.79981840
75Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.78778020
76Lysine degradation_Homo sapiens_hsa003100.78464015
77HIF-1 signaling pathway_Homo sapiens_hsa040660.78353746
78Type II diabetes mellitus_Homo sapiens_hsa049300.77164927
79Insulin signaling pathway_Homo sapiens_hsa049100.75604630
80cAMP signaling pathway_Homo sapiens_hsa040240.74725461
81Adipocytokine signaling pathway_Homo sapiens_hsa049200.74505587
82Insulin secretion_Homo sapiens_hsa049110.72806948
83Circadian rhythm_Homo sapiens_hsa047100.72398224
84Steroid biosynthesis_Homo sapiens_hsa001000.71487033
85Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.70319919
86Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.69062402
87Ovarian steroidogenesis_Homo sapiens_hsa049130.68133625
88Galactose metabolism_Homo sapiens_hsa000520.68040487
89Basal transcription factors_Homo sapiens_hsa030220.66334886
90Maturity onset diabetes of the young_Homo sapiens_hsa049500.65853347
91Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.65788668
92Vascular smooth muscle contraction_Homo sapiens_hsa042700.65756380
93Retinol metabolism_Homo sapiens_hsa008300.65043277
94beta-Alanine metabolism_Homo sapiens_hsa004100.64492677
95Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.63788792
96PPAR signaling pathway_Homo sapiens_hsa033200.63180016
97Vitamin B6 metabolism_Homo sapiens_hsa007500.58621806
98Homologous recombination_Homo sapiens_hsa034400.57724438
99Focal adhesion_Homo sapiens_hsa045100.57588052
100Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.57031637
101* Oxytocin signaling pathway_Homo sapiens_hsa049210.51973394
102Taste transduction_Homo sapiens_hsa047420.51249014
103Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.50101193
104Fat digestion and absorption_Homo sapiens_hsa049750.48267958
105Renin secretion_Homo sapiens_hsa049240.48063594
106Complement and coagulation cascades_Homo sapiens_hsa046100.48009374
107Thyroid hormone signaling pathway_Homo sapiens_hsa049190.46098365
108Tryptophan metabolism_Homo sapiens_hsa003800.45218861
109Phagosome_Homo sapiens_hsa041450.44727836
110Tuberculosis_Homo sapiens_hsa051520.44644695
111* Circadian entrainment_Homo sapiens_hsa047130.44070361
112Pentose and glucuronate interconversions_Homo sapiens_hsa000400.43490320
113Long-term depression_Homo sapiens_hsa047300.42208752
114Fanconi anemia pathway_Homo sapiens_hsa034600.41466732
115AMPK signaling pathway_Homo sapiens_hsa041520.40895907
116Fructose and mannose metabolism_Homo sapiens_hsa000510.40687765
117Phenylalanine metabolism_Homo sapiens_hsa003600.39857278
118Antigen processing and presentation_Homo sapiens_hsa046120.39718959
119ECM-receptor interaction_Homo sapiens_hsa045120.39321045
120Central carbon metabolism in cancer_Homo sapiens_hsa052300.39175151
121Protein export_Homo sapiens_hsa030600.37458198
122Longevity regulating pathway - mammal_Homo sapiens_hsa042110.36374615
123Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.34463279
124Adherens junction_Homo sapiens_hsa045200.32547084
125Glycerophospholipid metabolism_Homo sapiens_hsa005640.31760672
126Peroxisome_Homo sapiens_hsa041460.30930158
127Gastric acid secretion_Homo sapiens_hsa049710.26607215
128Tyrosine metabolism_Homo sapiens_hsa003500.24745594
129Tight junction_Homo sapiens_hsa045300.24497201
130Metabolic pathways_Homo sapiens_hsa011000.23516242
131Arginine and proline metabolism_Homo sapiens_hsa003300.22065358
132* Morphine addiction_Homo sapiens_hsa050320.20650002
133Fatty acid biosynthesis_Homo sapiens_hsa000610.20385519
134Platelet activation_Homo sapiens_hsa046110.17372464
135Leukocyte transendothelial migration_Homo sapiens_hsa046700.12726424
136Regulation of actin cytoskeleton_Homo sapiens_hsa048100.12588407
137Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.12141866
138Cholinergic synapse_Homo sapiens_hsa047250.11993448
139Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.08603682
140Toxoplasmosis_Homo sapiens_hsa051450.08475221
141GABAergic synapse_Homo sapiens_hsa047270.07767783
142FoxO signaling pathway_Homo sapiens_hsa040680.07170549
143PI3K-Akt signaling pathway_Homo sapiens_hsa041510.07135358
144Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.07095852
145Amoebiasis_Homo sapiens_hsa051460.07082246
146Purine metabolism_Homo sapiens_hsa002300.06470479
147Pancreatic secretion_Homo sapiens_hsa049720.03481048
148Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.02826368
149Allograft rejection_Homo sapiens_hsa053300.01438010
150Hematopoietic cell lineage_Homo sapiens_hsa046400.01235955
151* Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.00836480
152Proteoglycans in cancer_Homo sapiens_hsa052050.00216479
153Cysteine and methionine metabolism_Homo sapiens_hsa00270-0.0367932
154Arachidonic acid metabolism_Homo sapiens_hsa00590-0.0324596
155Intestinal immune network for IgA production_Homo sapiens_hsa04672-0.0254395
156Rap1 signaling pathway_Homo sapiens_hsa04015-0.0236406
157Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080-0.0235174
158Legionellosis_Homo sapiens_hsa05134-0.0137520
159MAPK signaling pathway_Homo sapiens_hsa04010-0.0114060
160Notch signaling pathway_Homo sapiens_hsa04330-0.0111873

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