SMCO1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of skeletal muscle contraction (GO:0014819)9.03511756
2regulation of relaxation of muscle (GO:1901077)8.65356170
3myofibril assembly (GO:0030239)7.74678581
4positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.62920849
5sarcomere organization (GO:0045214)7.57260043
6striated muscle contraction (GO:0006941)7.55896798
7actin filament-based movement (GO:0030048)7.42266364
8regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)7.16957539
9creatine metabolic process (GO:0006600)7.07963543
10response to muscle activity (GO:0014850)6.60870224
11cardiac myofibril assembly (GO:0055003)6.46859861
12cardiac muscle contraction (GO:0060048)6.28284174
13response to inactivity (GO:0014854)6.04337131
14regulation of actin filament-based movement (GO:1903115)5.91724237
15regulation of cell communication by electrical coupling (GO:0010649)5.85788555
16skeletal muscle fiber development (GO:0048741)5.68489161
17regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.67847224
18muscle contraction (GO:0006936)5.64586660
19actomyosin structure organization (GO:0031032)5.56296033
20skeletal muscle adaptation (GO:0043501)5.47704739
21NADH metabolic process (GO:0006734)5.35473532
22negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.35168532
23cardiac muscle hypertrophy (GO:0003300)5.29863779
24myotube cell development (GO:0014904)5.19883579
25glycogen catabolic process (GO:0005980)5.19605124
26muscle system process (GO:0003012)5.05590287
27striated muscle hypertrophy (GO:0014897)5.04338522
28plasma membrane repair (GO:0001778)4.97528192
29glucan catabolic process (GO:0009251)4.88325557
30regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO4.87181728
31negative regulation of potassium ion transmembrane transport (GO:1901380)4.78666234
32glucan biosynthetic process (GO:0009250)4.71126992
33glycogen biosynthetic process (GO:0005978)4.71126992
34muscle fiber development (GO:0048747)4.67799480
35regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)4.62824174
36cellular polysaccharide catabolic process (GO:0044247)4.58812952
37muscle hypertrophy (GO:0014896)4.49611857
38muscle tissue morphogenesis (GO:0060415)4.49338073
39cardiac muscle tissue morphogenesis (GO:0055008)4.46912227
40central nervous system myelination (GO:0022010)4.44728796
41axon ensheathment in central nervous system (GO:0032291)4.44728796
42regulation of striated muscle contraction (GO:0006942)4.40923588
43striated muscle adaptation (GO:0014888)4.40557289
44skeletal muscle tissue development (GO:0007519)4.35891372
45adult heart development (GO:0007512)4.27520098
46positive regulation of calcium ion transmembrane transporter activity (GO:1901021)4.26800162
47regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.24967499
48carnitine shuttle (GO:0006853)4.24761370
492-oxoglutarate metabolic process (GO:0006103)4.20189338
50tricarboxylic acid cycle (GO:0006099)4.16816355
51heart contraction (GO:0060047)4.15700810
52heart process (GO:0003015)4.15700810
53cardiac muscle cell development (GO:0055013)4.14163099
54polysaccharide catabolic process (GO:0000272)4.13236904
55skeletal muscle tissue regeneration (GO:0043403)4.02899494
56regulation of the force of heart contraction (GO:0002026)4.01903540
57muscle cell cellular homeostasis (GO:0046716)4.00162743
58regulation of calcium ion transmembrane transporter activity (GO:1901019)3.96423423
59regulation of calcium ion transmembrane transport (GO:1903169)3.96423423
60regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.92102432
61striated muscle cell development (GO:0055002)3.86546207
62negative regulation of calcium ion transmembrane transport (GO:1903170)3.84497798
63negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.84497798
64cardiac cell development (GO:0055006)3.83602783
65glycogen metabolic process (GO:0005977)3.81386127
66limb bud formation (GO:0060174)3.74987026
67cellular glucan metabolic process (GO:0006073)3.73784581
68glucan metabolic process (GO:0044042)3.73784581
69superoxide anion generation (GO:0042554)3.70463148
70gluconeogenesis (GO:0006094)3.70076930
71fructose metabolic process (GO:0006000)3.69363635
72cardiac muscle adaptation (GO:0014887)3.64579963
73cardiac muscle hypertrophy in response to stress (GO:0014898)3.64579963
74muscle hypertrophy in response to stress (GO:0003299)3.64579963
75muscle organ morphogenesis (GO:0048644)3.64534270
76regulation of timing of cell differentiation (GO:0048505)3.62799660
77fatty acid transmembrane transport (GO:1902001)3.61936798
78striated muscle atrophy (GO:0014891)3.60069505
79centriole assembly (GO:0098534)3.58666825
80response to activity (GO:0014823)3.56956133
81muscle structure development (GO:0061061)3.56445109
82muscle organ development (GO:0007517)3.54742173
83long-chain fatty acid biosynthetic process (GO:0042759)3.54507516
84regulation of sequestering of triglyceride (GO:0010889)3.54377047
85muscle adaptation (GO:0043500)3.54335157
86relaxation of muscle (GO:0090075)3.52799807
87negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.51689404
88muscle cell fate commitment (GO:0042693)3.51295194
89positive regulation of cation channel activity (GO:2001259)3.49047449
90cerebral cortex radially oriented cell migration (GO:0021799)3.48771927
91positive regulation of myotube differentiation (GO:0010831)3.48399459
92presynaptic membrane assembly (GO:0097105)3.47788156
93regulation of membrane repolarization (GO:0060306)3.46627565
94preassembly of GPI anchor in ER membrane (GO:0016254)3.38620640
95GPI anchor biosynthetic process (GO:0006506)3.37399828
96adenosine metabolic process (GO:0046085)3.36169492
97membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.33779753
98negative regulation of execution phase of apoptosis (GO:1900118)3.32520254
99regulation of muscle system process (GO:0090257)3.32127566
100regulation of ATP catabolic process (GO:1903289)3.31780947
101regulation of ATPase activity (GO:0043462)3.31780947
102muscle cell development (GO:0055001)3.30040763
103hexose biosynthetic process (GO:0019319)3.29583293
104response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.28669285
105mesenchymal cell differentiation involved in kidney development (GO:0072161)3.28282432
106mesenchymal cell differentiation involved in renal system development (GO:2001012)3.28282432
107regulation of development, heterochronic (GO:0040034)3.25820059
108ubiquinone biosynthetic process (GO:0006744)3.24562533
109positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)3.23980703
110regulation of muscle contraction (GO:0006937)3.23854027
111carnitine transmembrane transport (GO:1902603)3.22943273
112muscle atrophy (GO:0014889)3.22816262
113histone H2B ubiquitination (GO:0033523)3.22659516
114cell proliferation in forebrain (GO:0021846)3.18698543
115presynaptic membrane organization (GO:0097090)3.18010057
116mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.17710055
117positive regulation of protein homodimerization activity (GO:0090073)3.16916348
118keratinocyte development (GO:0003334)3.13859571
119negative regulation of myoblast differentiation (GO:0045662)3.03989794
120GPI anchor metabolic process (GO:0006505)3.01822705
121righting reflex (GO:0060013)3.00848487
122postsynaptic membrane organization (GO:0001941)2.96310984
123negative regulation of protein localization to cell surface (GO:2000009)2.94898444
124microtubule depolymerization (GO:0007019)2.87379614
125DNA ligation (GO:0006266)2.84157128
126positive regulation of action potential (GO:0045760)2.79087724
127positive regulation of uterine smooth muscle contraction (GO:0070474)2.77747188
128negative regulation of muscle hypertrophy (GO:0014741)2.73895499
129developmental pigmentation (GO:0048066)2.72314444
130negative regulation of cardiac muscle hypertrophy (GO:0010614)2.71736145
131cell fate commitment involved in formation of primary germ layer (GO:0060795)2.69371415
132G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.68715914
133neuron cell-cell adhesion (GO:0007158)2.66723913
134regulation of somitogenesis (GO:0014807)2.66462339
135axonemal dynein complex assembly (GO:0070286)2.66448246
136centriole replication (GO:0007099)2.65734980
137regulation of feeding behavior (GO:0060259)2.65497152
138G-protein coupled receptor internalization (GO:0002031)2.65268890
139organ growth (GO:0035265)2.64825204
140startle response (GO:0001964)2.64465891
141DNA integration (GO:0015074)2.64356779
142detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.62637449
143retina layer formation (GO:0010842)2.60244658
144amino sugar catabolic process (GO:0046348)2.59328258
145polyol transport (GO:0015791)2.57581703
146cell differentiation involved in metanephros development (GO:0072202)2.57037269
147female gonad development (GO:0008585)2.56858891
148positive regulation of microtubule polymerization (GO:0031116)2.56759688
149negative regulation of leukocyte chemotaxis (GO:0002689)2.55765798
150regulation of platelet aggregation (GO:0090330)2.53298951
151RNA destabilization (GO:0050779)2.50755770
152spinal cord motor neuron differentiation (GO:0021522)2.50061615
153auditory receptor cell stereocilium organization (GO:0060088)2.49701430
154protein heterotetramerization (GO:0051290)2.48895580
155oligosaccharide catabolic process (GO:0009313)2.48576234
156purinergic nucleotide receptor signaling pathway (GO:0035590)2.46986318
157negative regulation of DNA-dependent DNA replication (GO:2000104)2.46499007
158lymphoid progenitor cell differentiation (GO:0002320)2.45214033
159androgen biosynthetic process (GO:0006702)2.44744209
160regulation of activation of Janus kinase activity (GO:0010533)2.44239142
161ceramide catabolic process (GO:0046514)2.44238453
162otic vesicle formation (GO:0030916)2.44150283
163regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.43849371
164eye photoreceptor cell differentiation (GO:0001754)2.43616062
165photoreceptor cell differentiation (GO:0046530)2.43616062
166histone H3-K4 trimethylation (GO:0080182)2.43177274
167DNA damage response, detection of DNA damage (GO:0042769)2.42715359
168inner ear receptor stereocilium organization (GO:0060122)2.42668406
169microtubule polymerization or depolymerization (GO:0031109)2.41377610
170spinal cord association neuron differentiation (GO:0021527)2.41220330
171oligodendrocyte differentiation (GO:0048709)2.39516236
172cell differentiation in spinal cord (GO:0021515)2.39094568
173skeletal muscle contraction (GO:0003009)2.37920665
174import into cell (GO:0098657)2.36476405
175cyclic nucleotide catabolic process (GO:0009214)2.34560134
176forebrain neuron differentiation (GO:0021879)2.33241833
177photoreceptor cell maintenance (GO:0045494)2.32973500
178regulation of NIK/NF-kappaB signaling (GO:1901222)2.29833781
179positive regulation of NIK/NF-kappaB signaling (GO:1901224)2.27436216
180synapsis (GO:0007129)2.27091334
181regulation of rhodopsin mediated signaling pathway (GO:0022400)2.26500733
182left/right axis specification (GO:0070986)2.25506999
183regulation of interleukin-8 secretion (GO:2000482)2.25285139
184glycolipid biosynthetic process (GO:0009247)2.24656132
185sympathetic nervous system development (GO:0048485)2.24462483
186positive regulation of cell fate commitment (GO:0010455)2.24319308
187mesonephros development (GO:0001823)2.23752289
188glycosphingolipid catabolic process (GO:0046479)2.23315914
189cilium movement (GO:0003341)2.23275534
190nonmotile primary cilium assembly (GO:0035058)2.21627651
191detection of light stimulus involved in visual perception (GO:0050908)2.21523717
192detection of light stimulus involved in sensory perception (GO:0050962)2.21523717
193cornea development in camera-type eye (GO:0061303)2.21026454
194reflex (GO:0060004)2.20905696
195muscle filament sliding (GO:0030049)12.2030373
196actin-myosin filament sliding (GO:0033275)12.2030373
197sarcoplasmic reticulum calcium ion transport (GO:0070296)11.0964083
198actin-mediated cell contraction (GO:0070252)10.0225387

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.39254622
2PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse3.69280406
3GBX2_23144817_ChIP-Seq_PC3_Human3.61120473
4EZH2_22144423_ChIP-Seq_EOC_Human3.60677436
5TBX20_22328084_ChIP-Seq_HEART_Mouse3.21621939
6TBX20_22080862_ChIP-Seq_HEART_Mouse3.21621939
7EP300_21415370_ChIP-Seq_HL-1_Mouse3.08496893
8ESRRB_18555785_ChIP-Seq_MESCs_Mouse3.05628842
9CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.85921524
10ESR1_20079471_ChIP-ChIP_T-47D_Human2.85804375
11ZFP57_27257070_Chip-Seq_ESCs_Mouse2.80442409
12CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.78164947
13PCGF2_27294783_Chip-Seq_ESCs_Mouse2.66931831
14BMI1_23680149_ChIP-Seq_NPCS_Mouse2.63832157
15MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.62461514
16TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.61193363
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.57722167
18PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.53230683
19PCGF2_27294783_Chip-Seq_NPCs_Mouse2.39630442
20TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.38751109
21CBX2_27304074_Chip-Seq_ESCs_Mouse2.38519193
22FLI1_27457419_Chip-Seq_LIVER_Mouse2.32428216
23SUZ12_27294783_Chip-Seq_NPCs_Mouse2.31884597
24JARID2_20064375_ChIP-Seq_MESCs_Mouse2.25831481
25EZH2_27304074_Chip-Seq_ESCs_Mouse2.20479295
26NFE2_27457419_Chip-Seq_LIVER_Mouse2.19880232
27BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.18856191
28BP1_19119308_ChIP-ChIP_Hs578T_Human2.17186945
29PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse2.10085549
30EED_16625203_ChIP-ChIP_MESCs_Mouse2.03331085
31GATA4_21415370_ChIP-Seq_HL-1_Mouse2.02802039
32VDR_22108803_ChIP-Seq_LS180_Human1.99453196
33SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.95735848
34TAF15_26573619_Chip-Seq_HEK293_Human1.92570676
35EZH2_27294783_Chip-Seq_NPCs_Mouse1.89183752
36E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.86421287
37NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.85642351
38POU3F2_20337985_ChIP-ChIP_501MEL_Human1.77783319
39EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.77462614
40SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.76690542
41HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.74466699
42SUZ12_18555785_Chip-Seq_ESCs_Mouse1.73753872
43SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.72385761
44EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.71906625
45STAT3_18555785_Chip-Seq_ESCs_Mouse1.71341945
46THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.70424390
47ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.70402735
48JARID2_20075857_ChIP-Seq_MESCs_Mouse1.70204720
49NANOG_18555785_Chip-Seq_ESCs_Mouse1.69896013
50SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.69649250
51E2F1_18555785_Chip-Seq_ESCs_Mouse1.69550514
52EZH2_27294783_Chip-Seq_ESCs_Mouse1.69189629
53TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.66276654
54P300_18555785_Chip-Seq_ESCs_Mouse1.65841101
55POU5F1_16153702_ChIP-ChIP_HESCs_Human1.65629133
56RNF2_27304074_Chip-Seq_NSC_Mouse1.65304531
57RNF2_18974828_ChIP-Seq_MESCs_Mouse1.64741678
58EZH2_18974828_ChIP-Seq_MESCs_Mouse1.64741678
59EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.63298311
60NMYC_18555785_Chip-Seq_ESCs_Mouse1.62903867
61P53_22387025_ChIP-Seq_ESCs_Mouse1.62561778
62SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.60926690
63PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.57980053
64RUNX1_27457419_Chip-Seq_LIVER_Mouse1.56699219
65CMYC_18555785_Chip-Seq_ESCs_Mouse1.52311843
66ZFX_18555785_Chip-Seq_ESCs_Mouse1.51971617
67KLF4_18555785_Chip-Seq_ESCs_Mouse1.51662105
68SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.51292711
69OCT4_18555785_Chip-Seq_ESCs_Mouse1.51123904
70P300_19829295_ChIP-Seq_ESCs_Human1.48227566
71SUZ12_27294783_Chip-Seq_ESCs_Mouse1.48155570
72RBPJ_22232070_ChIP-Seq_NCS_Mouse1.47253539
73SOX2_18555785_Chip-Seq_ESCs_Mouse1.47112154
74CTBP1_25329375_ChIP-Seq_LNCAP_Human1.46969977
75GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.46636146
76PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.44636260
77ER_23166858_ChIP-Seq_MCF-7_Human1.43102716
78ESRRB_18555785_Chip-Seq_ESCs_Mouse1.43020121
79CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.42845474
80FUS_26573619_Chip-Seq_HEK293_Human1.42672526
81RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.42637504
82PU1_27457419_Chip-Seq_LIVER_Mouse1.42256116
83NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.41733198
84SMAD1_18555785_Chip-Seq_ESCs_Mouse1.41717396
85IRF1_19129219_ChIP-ChIP_H3396_Human1.40766917
86RNF2_27304074_Chip-Seq_ESCs_Mouse1.40627425
87SMAD3_21741376_ChIP-Seq_EPCs_Human1.38594915
88CRX_20693478_ChIP-Seq_RETINA_Mouse1.37581311
89CDX2_19796622_ChIP-Seq_MESCs_Mouse1.37112224
90CTCF_18555785_Chip-Seq_ESCs_Mouse1.35862479
91CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.35352616
92OCT4_21477851_ChIP-Seq_ESCs_Mouse1.34506586
93TAL1_26923725_Chip-Seq_HPCs_Mouse1.34124299
94ESR2_21235772_ChIP-Seq_MCF-7_Human1.34037674
95SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.31129051
96ZNF263_19887448_ChIP-Seq_K562_Human1.30570958
97NFIB_24661679_ChIP-Seq_LUNG_Mouse1.30425187
98RARG_19884340_ChIP-ChIP_MEFs_Mouse1.30147573
99CTBP2_25329375_ChIP-Seq_LNCAP_Human1.27348941
100BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.26232079
101POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.25882281
102TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25882281
103IGF1R_20145208_ChIP-Seq_DFB_Human1.25743671
104SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.25308274
105CTCF_27219007_Chip-Seq_Bcells_Human1.24516612
106FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.24470551
107MTF2_20144788_ChIP-Seq_MESCs_Mouse1.23045017
108SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.20395764
109SMAD_19615063_ChIP-ChIP_OVARY_Human1.20362327
110CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.19743824
111DROSHA_22980978_ChIP-Seq_HELA_Human1.18777266
112MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.18607206
113PIAS1_25552417_ChIP-Seq_VCAP_Human1.16862229
114SMAD4_21799915_ChIP-Seq_A2780_Human1.15865655
115UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.15563586
116LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.15484582
117TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.12900952
118RARB_27405468_Chip-Seq_BRAIN_Mouse1.11849801
119STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.10373080
120MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.09277265
121TOP2B_26459242_ChIP-Seq_MCF-7_Human1.08831578
122CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.05984884
123P53_22127205_ChIP-Seq_FIBROBLAST_Human1.05766532
124EWS_26573619_Chip-Seq_HEK293_Human1.05331826
125LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04766894
126AR_21572438_ChIP-Seq_LNCaP_Human1.04582615
127TP53_18474530_ChIP-ChIP_U2OS_Human1.03027539
128KDM2B_26808549_Chip-Seq_REH_Human1.02582596
129PPARA_22158963_ChIP-Seq_LIVER_Mouse1.02503208
130STAT6_21828071_ChIP-Seq_BEAS2B_Human1.01990334
131SMC3_22415368_ChIP-Seq_MEFs_Mouse1.01810625
132FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.00850235
133NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.99736985
134ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.99601885
135OCT4_20526341_ChIP-Seq_ESCs_Human0.98866378
136SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.98577395
137RUNX2_22187159_ChIP-Seq_PCA_Human0.98030540
138PHF8_20622853_ChIP-Seq_HELA_Human0.96590855
139ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.96510146
140GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.95508805
141RXR_22158963_ChIP-Seq_LIVER_Mouse0.95186160
142LXR_22158963_ChIP-Seq_LIVER_Mouse0.92978652
143MYC_27129775_Chip-Seq_CORNEA_Mouse0.92707411
144SPI1_20517297_ChIP-Seq_HL60_Human0.89251082
145CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.88292832
146HTT_18923047_ChIP-ChIP_STHdh_Human0.87808275
147SOX2_21211035_ChIP-Seq_LN229_Gbm0.87539052
148NRF2_20460467_ChIP-Seq_MEFs_Mouse0.87081759
149NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.87081759
150CLOCK_20551151_ChIP-Seq_293T_Human0.85920250
151EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.84970784
152CTCF_21964334_ChIP-Seq_BJAB-B_Human0.81303743
153GATA1_19941827_ChIP-Seq_MEL_Mouse0.81186953
154PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.80451807
155SMAD3_21741376_ChIP-Seq_HESCs_Human0.78687987
156TRIM28_21343339_ChIP-Seq_HEK293_Human0.78169294
157CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.76905165
158NR3C1_23031785_ChIP-Seq_PC12_Mouse0.75711119
159GATA1_19941827_ChIP-Seq_MEL86_Mouse0.73597799
160STAT3_1855785_ChIP-Seq_MESCs_Mouse0.72786864
161GATA6_21074721_ChIP-Seq_CACO-2_Human0.72758413
162SA1_27219007_Chip-Seq_Bcells_Human0.70678280
163KLF5_20875108_ChIP-Seq_MESCs_Mouse0.70017319
164STAT1_20625510_ChIP-Seq_HELA_Human0.68880348
165DPY_21335234_ChIP-Seq_ESCs_Mouse0.68053846
166RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.67398731
167NANOG_19829295_ChIP-Seq_ESCs_Human0.66377986
168SOX2_19829295_ChIP-Seq_ESCs_Human0.66377986
169PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.65697228
170PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.65625307
171NFYB_21822215_ChIP-Seq_K562_Human0.64874581
172CBP_21632823_ChIP-Seq_H3396_Human0.64676848
173RAD21_21589869_ChIP-Seq_MESCs_Mouse0.64505486
174AUTS2_25519132_ChIP-Seq_293T-REX_Human0.64482694

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue6.95366534
2MP0000751_myopathy6.07953882
3MP0004036_abnormal_muscle_relaxation4.55449636
4MP0003136_yellow_coat_color4.30123120
5MP0006292_abnormal_olfactory_placode3.98498209
6MP0001188_hyperpigmentation3.84160611
7MP0004084_abnormal_cardiac_muscle3.82769297
8MP0002106_abnormal_muscle_physiology3.66975771
9MP0004087_abnormal_muscle_fiber3.48968270
10MP0004381_abnormal_hair_follicle3.41125478
11MP0000566_synostosis3.38593055
12MP0000747_muscle_weakness3.31603909
13MP0000759_abnormal_skeletal_muscle3.26942920
14MP0005369_muscle_phenotype3.07650723
15MP0005330_cardiomyopathy3.03837434
16MP0004130_abnormal_muscle_cell3.00456107
17MP0002332_abnormal_exercise_endurance2.98346947
18MP0002269_muscular_atrophy2.98178498
19MP0005620_abnormal_muscle_contractility2.93626089
20MP0004233_abnormal_muscle_weight2.85173510
21MP0000750_abnormal_muscle_regeneration2.78877933
22MP0002837_dystrophic_cardiac_calcinosis2.77373766
23MP0001986_abnormal_taste_sensitivity2.75915066
24MP0005409_darkened_coat_color2.73787526
25MP0005171_absent_coat_pigmentation2.65591298
26MP0004215_abnormal_myocardial_fiber2.51388432
27MP0002972_abnormal_cardiac_muscle2.49753450
28MP0003941_abnormal_skin_development2.41906487
29MP0002277_abnormal_respiratory_mucosa2.38743907
30MP0002102_abnormal_ear_morphology2.33465603
31MP0003880_abnormal_central_pattern2.32994728
32MP0005423_abnormal_somatic_nervous2.29107375
33MP0004484_altered_response_of2.15808944
34MP0004742_abnormal_vestibular_system2.09600603
35MP0004510_myositis2.04704954
36MP0009379_abnormal_foot_pigmentation2.02828946
37MP0001486_abnormal_startle_reflex2.01631622
38MP0006036_abnormal_mitochondrial_physio1.97718493
39MP0005379_endocrine/exocrine_gland_phen1.90834371
40MP0000733_abnormal_muscle_development1.87148323
41MP0004142_abnormal_muscle_tone1.81496846
42MP0010630_abnormal_cardiac_muscle1.81052833
43MP0002108_abnormal_muscle_morphology1.77634799
44MP0006276_abnormal_autonomic_nervous1.76501863
45MP0006138_congestive_heart_failure1.76105892
46MP0005385_cardiovascular_system_phenoty1.72750869
47MP0001544_abnormal_cardiovascular_syste1.72750869
48MP0002127_abnormal_cardiovascular_syste1.66697414
49MP0000015_abnormal_ear_pigmentation1.61063774
50MP0003938_abnormal_ear_development1.56992464
51MP0004145_abnormal_muscle_electrophysio1.56840375
52MP0000026_abnormal_inner_ear1.54822694
53MP0005174_abnormal_tail_pigmentation1.52801371
54MP0000013_abnormal_adipose_tissue1.50378004
55MP0002638_abnormal_pupillary_reflex1.45487098
56MP0000383_abnormal_hair_follicle1.42776518
57MP0005266_abnormal_metabolism1.39831919
58MP0005645_abnormal_hypothalamus_physiol1.39558922
59MP0008775_abnormal_heart_ventricle1.36917993
60MP0006072_abnormal_retinal_apoptosis1.35732486
61MP0003221_abnormal_cardiomyocyte_apopto1.34555040
62MP0001905_abnormal_dopamine_level1.32747461
63MP0003787_abnormal_imprinting1.32346627
64MP0005451_abnormal_body_composition1.30093088
65MP0000372_irregular_coat_pigmentation1.29096589
66MP0005670_abnormal_white_adipose1.28437703
67MP0001963_abnormal_hearing_physiology1.26820218
68MP0005551_abnormal_eye_electrophysiolog1.25946249
69MP0005646_abnormal_pituitary_gland1.23650128
70MP0000762_abnormal_tongue_morphology1.22022032
71MP0001485_abnormal_pinna_reflex1.19224408
72MP0005253_abnormal_eye_physiology1.17786459
73MP0000049_abnormal_middle_ear1.15967110
74MP0000920_abnormal_myelination1.15345758
75MP0003950_abnormal_plasma_membrane1.13984638
76MP0002148_abnormal_hypersensitivity_rea1.13648467
77MP0002272_abnormal_nervous_system1.11959879
78MP0003724_increased_susceptibility_to1.11484956
79MP0005075_abnormal_melanosome_morpholog1.09717254
80MP0009745_abnormal_behavioral_response1.09173245
81MP0002876_abnormal_thyroid_physiology1.08354552
82MP0003718_maternal_effect1.08334977
83MP0008995_early_reproductive_senescence1.08190807
84MP0002971_abnormal_brown_adipose1.06922885
85MP0000631_abnormal_neuroendocrine_gland1.06767856
86MP0000613_abnormal_salivary_gland1.06556856
87MP0008260_abnormal_autophagy1.05622455
88MP0000778_abnormal_nervous_system1.05083871
89MP0002095_abnormal_skin_pigmentation1.02575577
90MP0002752_abnormal_somatic_nervous1.01750153
91MP0002163_abnormal_gland_morphology1.01154992
92MP0004085_abnormal_heartbeat1.01032349
93MP0000579_abnormal_nail_morphology1.00425720
94MP0001661_extended_life_span0.99578352
95MP0002067_abnormal_sensory_capabilities0.99065086
96MP0002249_abnormal_larynx_morphology0.98405329
97MP0005666_abnormal_adipose_tissue0.97265351
98MP0002938_white_spotting0.95797402
99MP0001968_abnormal_touch/_nociception0.95488709
100MP0002735_abnormal_chemical_nociception0.94500396
101MP0005375_adipose_tissue_phenotype0.93367340
102MP0004270_analgesia0.93146132
103MP0008789_abnormal_olfactory_epithelium0.92667008
104MP0010386_abnormal_urinary_bladder0.91715953
105MP0004185_abnormal_adipocyte_glucose0.91655624
106MP0003937_abnormal_limbs/digits/tail_de0.91550938
107MP0002557_abnormal_social/conspecific_i0.91292509
108MP0003137_abnormal_impulse_conducting0.90952626
109MP0008058_abnormal_DNA_repair0.90088946
110MP0009046_muscle_twitch0.87598058
111MP0002572_abnormal_emotion/affect_behav0.86667381
112MP0003828_pulmonary_edema0.86356013
113MP0000003_abnormal_adipose_tissue0.85781831
114MP0002177_abnormal_outer_ear0.83060840
115MP0002933_joint_inflammation0.83004883
116MP0000462_abnormal_digestive_system0.82800251
117MP0002132_abnormal_respiratory_system0.81484739
118MP0002751_abnormal_autonomic_nervous0.81240587
119MP0001502_abnormal_circadian_rhythm0.80760080
120MP0003878_abnormal_ear_physiology0.78527003
121MP0005377_hearing/vestibular/ear_phenot0.78527003
122MP0001727_abnormal_embryo_implantation0.77791760
123MP0002098_abnormal_vibrissa_morphology0.76130423
124MP0004147_increased_porphyrin_level0.76114878
125MP0002734_abnormal_mechanical_nocicepti0.74962824
126MP0004133_heterotaxia0.74943054
127MP0002184_abnormal_innervation0.74455542
128MP0009250_abnormal_appendicular_skeleto0.74067320
129MP0005671_abnormal_response_to0.73703682
130MP0001664_abnormal_digestion0.73432905
131MP0002822_catalepsy0.73322048
132MP0003195_calcinosis0.72445869
133MP0001440_abnormal_grooming_behavior0.72384467
134MP0005410_abnormal_fertilization0.72082377
135MP0000470_abnormal_stomach_morphology0.71811154
136MP0000266_abnormal_heart_morphology0.71366361
137MP0000749_muscle_degeneration0.71023957
138MP0009780_abnormal_chondrocyte_physiolo0.71017493
139MP0001529_abnormal_vocalization0.70410938
140MP0001984_abnormal_olfaction0.68380558
141MP0003786_premature_aging0.67400608
142MP0009785_altered_susceptibility_to0.67208412
143MP0002736_abnormal_nociception_after0.66849571
144MP0004134_abnormal_chest_morphology0.66847670
145MP0003045_fibrosis0.64579084
146MP0005394_taste/olfaction_phenotype0.63723546
147MP0005165_increased_susceptibility_to0.62200511
148MP0003656_abnormal_erythrocyte_physiolo0.58127468
149MP0004043_abnormal_pH_regulation0.50632899
150MP0002078_abnormal_glucose_homeostasis0.50443298
151MP0008569_lethality_at_weaning0.49812750
152MP0003879_abnormal_hair_cell0.48915786
153MP0001299_abnormal_eye_distance/0.48692933
154MP0002128_abnormal_blood_circulation0.45446259
155MP0005584_abnormal_enzyme/coenzyme_acti0.37807890
156MP0010030_abnormal_orbit_morphology0.37336078
157MP0005535_abnormal_body_temperature0.37266710
158MP0005376_homeostasis/metabolism_phenot0.37084474
159MP0006035_abnormal_mitochondrial_morpho0.36658984
160MP0000230_abnormal_systemic_arterial0.35045139
161MP0005167_abnormal_blood-brain_barrier0.34748157
162MP0005334_abnormal_fat_pad0.32398046
163MP0005452_abnormal_adipose_tissue0.31924227
164MP0005332_abnormal_amino_acid0.31738433
165MP0009672_abnormal_birth_weight0.31246355
166MP0005166_decreased_susceptibility_to0.28124356
167MP0003948_abnormal_gas_homeostasis0.27568536
168MP0005187_abnormal_penis_morphology0.27167120
169MP0005083_abnormal_biliary_tract0.26668987
170MP0005319_abnormal_enzyme/_coenzyme0.24927105
171MP0004924_abnormal_behavior0.24849431
172MP0005386_behavior/neurological_phenoty0.24849431
173MP0002114_abnormal_axial_skeleton0.24323021
174MP0000343_altered_response_to0.22489006
175MP0001346_abnormal_lacrimal_gland0.22402199
176MP0002066_abnormal_motor_capabilities/c0.22018702
177MP0002896_abnormal_bone_mineralization0.21876162
178MP0001943_abnormal_respiration0.17531875
179MP0009115_abnormal_fat_cell0.17164160
180MP0008874_decreased_physiological_sensi0.15925419
181MP0002234_abnormal_pharynx_morphology0.13420027

Predicted human phenotypes

RankGene SetZ-score
1Type 1 muscle fiber predominance (HP:0003803)8.05495127
2Exercise-induced myalgia (HP:0003738)7.91222814
3Exercise-induced muscle cramps (HP:0003710)7.61272977
4Calf muscle hypertrophy (HP:0008981)5.90302934
5Chromosomal breakage induced by crosslinking agents (HP:0003221)5.70638206
6EMG: myopathic abnormalities (HP:0003458)5.57169857
7Distal arthrogryposis (HP:0005684)5.39412188
8Myopathic facies (HP:0002058)5.39354519
9Duplicated collecting system (HP:0000081)5.33925722
10Muscle fiber splitting (HP:0003555)5.17639072
11Hyporeflexia of lower limbs (HP:0002600)5.14965847
12Rhabdomyolysis (HP:0003201)4.99039728
13Myoglobinuria (HP:0002913)4.97428678
14Abnormality of the calf musculature (HP:0001430)4.96455045
15Chromsome breakage (HP:0040012)4.87235105
16Abnormality of the renal collecting system (HP:0004742)4.75841642
17Centrally nucleated skeletal muscle fibers (HP:0003687)4.65271287
18Neck muscle weakness (HP:0000467)4.54434577
19Rimmed vacuoles (HP:0003805)4.49565273
20Subaortic stenosis (HP:0001682)4.47391042
21Abnormality of the left ventricular outflow tract (HP:0011103)4.47391042
22Round ear (HP:0100830)4.41883323
23Sudden death (HP:0001699)4.37888082
24Ulnar deviation of the wrist (HP:0003049)4.15445543
25Abnormality of skeletal muscle fiber size (HP:0012084)4.14336798
26Bundle branch block (HP:0011710)4.06548194
27Difficulty running (HP:0009046)3.97119757
28Absent/shortened dynein arms (HP:0200106)3.91835433
29Dynein arm defect of respiratory motile cilia (HP:0012255)3.91835433
30Asymmetric septal hypertrophy (HP:0001670)3.88301516
31Increased connective tissue (HP:0009025)3.71775028
32Calcaneovalgus deformity (HP:0001848)3.65105786
33Abnormal ciliary motility (HP:0012262)3.61325054
34Upper limb muscle weakness (HP:0003484)3.59997570
35Muscle stiffness (HP:0003552)3.57689610
36Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.52910503
37Increased variability in muscle fiber diameter (HP:0003557)3.47377487
38Areflexia of lower limbs (HP:0002522)3.44834485
39Frequent falls (HP:0002359)3.40651156
40Absent phalangeal crease (HP:0006109)3.34450380
41EMG: neuropathic changes (HP:0003445)3.28871960
42Myotonia (HP:0002486)3.26479421
43Deformed tarsal bones (HP:0008119)3.22890021
44Ventricular tachycardia (HP:0004756)3.20933391
45Congenital sensorineural hearing impairment (HP:0008527)3.10603240
46Abnormal respiratory motile cilium morphology (HP:0005938)3.09833154
47Abnormal respiratory epithelium morphology (HP:0012253)3.09833154
48Parakeratosis (HP:0001036)3.02263152
49Abnormal respiratory motile cilium physiology (HP:0012261)3.00633097
50Dilated cardiomyopathy (HP:0001644)3.00590136
51Generalized muscle weakness (HP:0003324)2.92013714
52Duplication of thumb phalanx (HP:0009942)2.88226506
53Reticulocytopenia (HP:0001896)2.85466933
54Abnormality of DNA repair (HP:0003254)2.83402325
55Lipoatrophy (HP:0100578)2.81867866
56Septo-optic dysplasia (HP:0100842)2.77546838
57Abnormal finger flexion creases (HP:0006143)2.76440914
58Mildly elevated creatine phosphokinase (HP:0008180)2.73110267
59Malignant hyperthermia (HP:0002047)2.71513825
60Congenital stationary night blindness (HP:0007642)2.70160581
61Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.69608594
62Abnormality of the preputium (HP:0100587)2.65624730
63Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.58745949
64Distal lower limb amyotrophy (HP:0008944)2.58322477
65Decreased central vision (HP:0007663)2.56744653
66Heart block (HP:0012722)2.55795880
67Conical tooth (HP:0000698)2.55423142
68Stomach cancer (HP:0012126)2.48100420
69Bulbar palsy (HP:0001283)2.43615101
70Progressive muscle weakness (HP:0003323)2.42883818
71Scapular winging (HP:0003691)2.41364838
72Patchy hypopigmentation of hair (HP:0011365)2.40548665
73Abnormal atrioventricular conduction (HP:0005150)2.39687985
74Renal Fanconi syndrome (HP:0001994)2.37342235
75Limb-girdle muscle atrophy (HP:0003797)2.37273909
76Abnormality of the septum pellucidum (HP:0007375)2.36119724
77Clubbing of toes (HP:0100760)2.36025801
783-Methylglutaconic aciduria (HP:0003535)2.35688479
79Gowers sign (HP:0003391)2.31030517
80Absent septum pellucidum (HP:0001331)2.30919813
81Slender build (HP:0001533)2.28579295
82Osteomalacia (HP:0002749)2.28478752
83White forelock (HP:0002211)2.27942525
84Atelectasis (HP:0100750)2.27875625
85Abnormality of the axillary hair (HP:0100134)2.27670683
86Abnormality of secondary sexual hair (HP:0009888)2.27670683
87Weak cry (HP:0001612)2.27642281
88Abnormality of the foot musculature (HP:0001436)2.27504521
89Abnormality of incisor morphology (HP:0011063)2.27027561
90Aplasia/Hypoplasia of the uvula (HP:0010293)2.26355621
91Submucous cleft hard palate (HP:0000176)2.25170816
92Aplasia cutis congenita (HP:0001057)2.24751432
93Ventricular arrhythmia (HP:0004308)2.24489075
94Meckel diverticulum (HP:0002245)2.21336425
95Ragged-red muscle fibers (HP:0003200)2.20169165
96Attenuation of retinal blood vessels (HP:0007843)2.19109928
97Optic nerve hypoplasia (HP:0000609)2.18083696
98Prostate neoplasm (HP:0100787)2.16582491
99Muscular dystrophy (HP:0003560)2.15985312
100Proximal amyotrophy (HP:0007126)2.12796846
101Difficulty climbing stairs (HP:0003551)2.12343138
102Abnormality of the ileum (HP:0001549)2.10655862
103Increased hepatocellular lipid droplets (HP:0006565)2.10173555
104Nephroblastoma (Wilms tumor) (HP:0002667)2.09705119
105Spinal rigidity (HP:0003306)2.09463391
106Foot dorsiflexor weakness (HP:0009027)2.05813088
107Abnormality of the calcaneus (HP:0008364)2.03993507
108Fatigable weakness (HP:0003473)2.02578636
109Abnormality of the neuromuscular junction (HP:0003398)2.02578636
110Increased corneal curvature (HP:0100692)2.01675495
111Keratoconus (HP:0000563)2.01675495
112Ectopic kidney (HP:0000086)2.01437200
113Hip contracture (HP:0003273)2.01235230
114Waddling gait (HP:0002515)2.00136932
115Muscle fiber inclusion bodies (HP:0100299)10.7562963
116Nemaline bodies (HP:0003798)10.6247724
117Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)10.3464974
118Abnormality of the shoulder girdle musculature (HP:0001435)1.99459069
119Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.98955709
120Obstructive lung disease (HP:0006536)1.98053001
121Chronic obstructive pulmonary disease (HP:0006510)1.98053001
122Lower limb amyotrophy (HP:0007210)1.97815310
123Exercise intolerance (HP:0003546)1.97620883
124Febrile seizures (HP:0002373)1.97464336
125Nonprogressive disorder (HP:0003680)1.97141296
126Pulmonary artery stenosis (HP:0004415)1.96271572
127Muscle hypertrophy of the lower extremities (HP:0008968)1.93863977
128Atrial fibrillation (HP:0005110)1.93565232
129Hypoplasia of the fovea (HP:0007750)1.91829982
130Aplasia/Hypoplasia of the fovea (HP:0008060)1.91829982
131Embryonal renal neoplasm (HP:0011794)1.91740568
132Ureteral duplication (HP:0000073)1.90451870
133Anomalous pulmonary venous return (HP:0010772)1.89501655
134Abnormality of renal resorption (HP:0011038)1.83945320
135Male pseudohermaphroditism (HP:0000037)1.83381259
136Distal lower limb muscle weakness (HP:0009053)1.82043992
137Abnormality of the musculature of the pelvis (HP:0001469)1.81387564
138Abnormality of the hip-girdle musculature (HP:0001445)1.81387564
139Progressive external ophthalmoplegia (HP:0000590)1.80436246
140Respiratory insufficiency due to muscle weakness (HP:0002747)1.79869559
141Increased intramyocellular lipid droplets (HP:0012240)1.79417275
142Abnormal sex determination (HP:0012244)1.77777265
143Sex reversal (HP:0012245)1.77777265
144Primary atrial arrhythmia (HP:0001692)1.75679043
145Absent rod-and cone-mediated responses on ERG (HP:0007688)1.75339934
146Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.74345218
147Aplasia/hypoplasia of the uterus (HP:0008684)1.74205512
148Renal cortical cysts (HP:0000803)1.74086173
149Concave nail (HP:0001598)1.73941239
150Median cleft lip (HP:0000161)1.73666235
151Overfolded helix (HP:0000396)1.73148332
152Nasolacrimal duct obstruction (HP:0000579)1.72995636
153Tubulointerstitial nephritis (HP:0001970)1.72898657
154Hypergonadotropic hypogonadism (HP:0000815)1.72811216
155Renal agenesis (HP:0000104)1.72528039
156Shoulder girdle muscle weakness (HP:0003547)1.72295039
157Pelvic girdle muscle weakness (HP:0003749)1.71586478
158Limb-girdle muscle weakness (HP:0003325)1.71558690
159Syncope (HP:0001279)1.71279426
160Triphalangeal thumb (HP:0001199)1.71081676
161Xerostomia (HP:0000217)1.70488928
162Ventricular fibrillation (HP:0001663)1.70390875
163Supraventricular tachycardia (HP:0004755)1.69978775
164Abnormality of chromosome stability (HP:0003220)1.68080829
165Nephronophthisis (HP:0000090)1.67528990
166True hermaphroditism (HP:0010459)1.67443660
167Atrioventricular block (HP:0001678)1.66957527
168Increased muscle lipid content (HP:0009058)1.66310468
169Facial diplegia (HP:0001349)1.65125913
170Supraventricular arrhythmia (HP:0005115)1.64511879
171Palpitations (HP:0001962)1.64286329
172Partial duplication of thumb phalanx (HP:0009944)1.63639394
173Aplasia/Hypoplasia of the sacrum (HP:0008517)1.63148227
174Microvesicular hepatic steatosis (HP:0001414)1.62708217
175Fetal akinesia sequence (HP:0001989)1.61896619
176Abnormality of molar (HP:0011077)1.61865841
177Abnormality of molar morphology (HP:0011070)1.61865841
178Hypothermia (HP:0002045)1.61231014
179Fair hair (HP:0002286)1.60965066
180Recurrent pneumonia (HP:0006532)1.60275727
181Abnormality of the pulmonary veins (HP:0011718)1.60236637
182Hyperkalemia (HP:0002153)1.59678598
183Optic disc pallor (HP:0000543)1.58558292
184Retrobulbar optic neuritis (HP:0100654)1.57555788
185Optic neuritis (HP:0100653)1.57555788
186Abnormality of the renal medulla (HP:0100957)1.56642085
187Medial flaring of the eyebrow (HP:0010747)1.56456718
188Paralysis (HP:0003470)1.55277526
189Oligomenorrhea (HP:0000876)1.53478026
190Steppage gait (HP:0003376)1.53222148
191Left ventricular hypertrophy (HP:0001712)1.53123619
192Long clavicles (HP:0000890)1.49641984
193Metatarsus adductus (HP:0001840)1.41175126
194Ulnar deviation of finger (HP:0009465)1.39258638
195Right ventricular cardiomyopathy (HP:0011663)1.37092851

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN6.50443806
2CASK3.76202154
3STK163.70373778
4IRAK33.49326092
5ZAK3.15048031
6TNIK3.00822920
7IRAK42.76197413
8IRAK22.06271329
9BLK2.03785218
10MKNK21.94808796
11PKN11.93305098
12MAPK121.91093999
13BMPR1B1.82474281
14TXK1.78336957
15GRK11.73347097
16STK391.69319905
17ADRBK21.66939406
18EIF2AK21.66482828
19GRK71.65072481
20MAP3K71.63921050
21MARK11.63828978
22NEK61.63114438
23MAP2K31.61240191
24IRAK11.58846848
25MUSK1.58648236
26DMPK1.55287519
27NUAK11.50188665
28INSRR1.42740932
29PLK41.35897669
30PRPF4B1.33871155
31NME11.31040108
32TLK11.28360483
33TRPM71.26398975
34MAPKAPK31.26239962
35OBSCN1.26016007
36PBK1.25016470
37YES11.22869206
38MAP3K141.21615741
39MKNK11.21139396
40OXSR11.18270377
41NEK11.15226148
42LIMK11.14258052
43SRPK11.13158394
44CLK11.11776899
45PHKG11.08965728
46PHKG21.08965728
47BMPR21.08514334
48MAP2K71.06495685
49MAP2K41.04927457
50PIK3CG1.04003611
51MAPK131.03448786
52PDK20.99348653
53TNK20.96428120
54PRKAA20.94093033
55DYRK20.93860214
56PINK10.89074089
57EPHA20.88228224
58EEF2K0.86824339
59CDK30.86627311
60MAPK150.85378318
61MYLK0.83797552
62TEC0.81505230
63PRKAA10.80714443
64MOS0.77253361
65NTRK30.77167693
66MAP2K60.76680240
67CCNB10.76115162
68NEK90.75085407
69CSNK1A1L0.73711040
70PRKCE0.72542822
71IKBKE0.72443902
72ERBB30.72369051
73RPS6KA50.71821559
74FES0.69842859
75CAMK40.68335100
76BCKDK0.66874787
77TTK0.65396873
78VRK10.64920100
79PRKCQ0.64273611
80DYRK30.63840952
81DYRK1B0.62946352
82FGR0.62873296
83WNK10.62483627
84CAMK2B0.62324994
85WNK40.62081638
86BCR0.62028555
87IKBKB0.60980109
88BRD40.59535972
89BRAF0.58861736
90TIE10.58860268
91AKT20.57933586
92PIK3CA0.55336689
93CAMK2D0.55105466
94MAP3K130.55022622
95PRKG10.53604573
96NLK0.52257676
97PRKD20.51508265
98RIPK10.50888351
99CSNK1G30.50335095
100MAPK40.50113783
101ROCK10.50014046
102LYN0.49720477
103CAMK2A0.49586467
104CDC42BPA0.48766492
105MAP2K10.47919920
106DYRK1A0.47649715
107CAMK2G0.47546000
108STK38L0.47457998
109UHMK10.46879106
110MAPK70.46707485
111CSNK1G10.46068450
112KSR20.43209059
113SGK30.43009604
114MAPK110.42019846
115SGK4940.40149467
116SGK2230.40149467
117PRKACA0.39203709
118LATS20.39184894
119SIK20.37266824
120MAPKAPK50.37076879
121AKT30.36592406
122HCK0.36571839
123NTRK20.35411223
124SGK10.34950594
125TRIB30.34576907
126EPHA40.33417101
127ROCK20.33224594
128LCK0.33101013
129PRKD10.32505694
130EPHA30.32247511
131SGK20.30637975
132CAMK10.30196354
133PRKCI0.29901654
134PAK30.29239290
135CSNK1A10.28689616
136CSK0.28401475
137BTK0.28222204
138RPS6KA30.28033876
139TBK10.26441680
140RPS6KA10.26375344
141RPS6KL10.26189070
142RPS6KC10.26189070
143PRKACB0.24768336
144ICK0.23146439
145MAPK100.22432673
146PRKACG0.22407870
147MAP3K10.22242044
148RPS6KA60.22133390
149RPS6KB10.21411918
150ARAF0.19831950
151PDPK10.19187494
152TAOK20.18159522
153EPHB10.17636229
154MAP3K60.16736098
155ZAP700.14490885
156MARK30.13915809
157PDK10.13573072
158RPS6KB20.12860828
159STK110.11752204
160MTOR0.11003287
161TGFBR20.10457901
162DAPK20.10369753
163SIK10.08727631
164MAP3K50.08419624
165MARK20.07927921
166RAF10.07663713
167STK240.07038938
168MAP3K110.04656442
169MAP3K30.04191954
170KSR10.03815412
171MAPK90.03465767

Predicted pathways (KEGG)

RankGene SetZ-score
1Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.37616335
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.12598703
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.77626140
4Fanconi anemia pathway_Homo sapiens_hsa034602.89638903
5Phototransduction_Homo sapiens_hsa047442.81734087
6Oxidative phosphorylation_Homo sapiens_hsa001902.50553700
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.46051619
8Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.26655989
9Carbon metabolism_Homo sapiens_hsa012002.24164865
10Nicotine addiction_Homo sapiens_hsa050332.24152414
11Glucagon signaling pathway_Homo sapiens_hsa049222.08295654
12Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.08009003
13Ribosome_Homo sapiens_hsa030101.96176935
14Autoimmune thyroid disease_Homo sapiens_hsa053201.93094142
15Homologous recombination_Homo sapiens_hsa034401.92785483
16Ether lipid metabolism_Homo sapiens_hsa005651.88985448
17Insulin signaling pathway_Homo sapiens_hsa049101.84817061
18Propanoate metabolism_Homo sapiens_hsa006401.84668559
19Parkinsons disease_Homo sapiens_hsa050121.82832460
20Arginine biosynthesis_Homo sapiens_hsa002201.79315543
21Graft-versus-host disease_Homo sapiens_hsa053321.74362380
22Pentose phosphate pathway_Homo sapiens_hsa000301.73006514
23Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.70550231
24Arachidonic acid metabolism_Homo sapiens_hsa005901.68709602
25Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.65340356
26Sphingolipid metabolism_Homo sapiens_hsa006001.65338615
27Oxytocin signaling pathway_Homo sapiens_hsa049211.65168054
28Pyruvate metabolism_Homo sapiens_hsa006201.64082224
29Alzheimers disease_Homo sapiens_hsa050101.63636763
30Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.62019847
31RNA polymerase_Homo sapiens_hsa030201.58448049
32Protein export_Homo sapiens_hsa030601.55968513
33Insulin resistance_Homo sapiens_hsa049311.55765079
34Asthma_Homo sapiens_hsa053101.53729545
35Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.53561090
36Taste transduction_Homo sapiens_hsa047421.52205076
37Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.49769529
38Fatty acid elongation_Homo sapiens_hsa000621.48240825
39Fatty acid degradation_Homo sapiens_hsa000711.47559606
40Allograft rejection_Homo sapiens_hsa053301.47213061
41Fructose and mannose metabolism_Homo sapiens_hsa000511.45448579
42Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.44266211
43Primary immunodeficiency_Homo sapiens_hsa053401.42645277
44Huntingtons disease_Homo sapiens_hsa050161.42186705
45cGMP-PKG signaling pathway_Homo sapiens_hsa040221.40696464
46Intestinal immune network for IgA production_Homo sapiens_hsa046721.40529427
47NF-kappa B signaling pathway_Homo sapiens_hsa040641.36186961
48Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.35003387
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.34802247
50Non-homologous end-joining_Homo sapiens_hsa034501.34403968
51Linoleic acid metabolism_Homo sapiens_hsa005911.33876789
52Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.30393800
53SNARE interactions in vesicular transport_Homo sapiens_hsa041301.30170154
54Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.29577228
55Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.27378477
56Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.24813605
57AMPK signaling pathway_Homo sapiens_hsa041521.21549097
58Biosynthesis of amino acids_Homo sapiens_hsa012301.20765946
59Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.19920635
60Serotonergic synapse_Homo sapiens_hsa047261.17392732
61Hematopoietic cell lineage_Homo sapiens_hsa046401.16490189
62Cardiac muscle contraction_Homo sapiens_hsa042601.15985097
63Phenylalanine metabolism_Homo sapiens_hsa003601.13971250
64Other glycan degradation_Homo sapiens_hsa005111.13614945
65Morphine addiction_Homo sapiens_hsa050321.12531517
66Adipocytokine signaling pathway_Homo sapiens_hsa049201.11418445
67alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.09236800
68Basal transcription factors_Homo sapiens_hsa030221.08142495
69Starch and sucrose metabolism_Homo sapiens_hsa005001.08108704
70Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.03060597
71Fatty acid metabolism_Homo sapiens_hsa012121.01222635
72Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.00416005
73Vitamin digestion and absorption_Homo sapiens_hsa049770.96620421
74Purine metabolism_Homo sapiens_hsa002300.96369808
75Axon guidance_Homo sapiens_hsa043600.96312679
76Nitrogen metabolism_Homo sapiens_hsa009100.94717325
77Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.93672180
78Renin secretion_Homo sapiens_hsa049240.91730099
79Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.90961128
80Pyrimidine metabolism_Homo sapiens_hsa002400.89540602
81Gastric acid secretion_Homo sapiens_hsa049710.88563186
82Rheumatoid arthritis_Homo sapiens_hsa053230.86620271
83Steroid hormone biosynthesis_Homo sapiens_hsa001400.85036351
84Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.83657455
85Vitamin B6 metabolism_Homo sapiens_hsa007500.82074966
86Arginine and proline metabolism_Homo sapiens_hsa003300.80120046
87Calcium signaling pathway_Homo sapiens_hsa040200.79251459
88Ovarian steroidogenesis_Homo sapiens_hsa049130.79161721
89Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.78480389
90Viral myocarditis_Homo sapiens_hsa054160.77635282
91Nucleotide excision repair_Homo sapiens_hsa034200.73232968
92Glutamatergic synapse_Homo sapiens_hsa047240.73222721
93Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.71150388
94Tight junction_Homo sapiens_hsa045300.71083071
95Measles_Homo sapiens_hsa051620.70762272
96PPAR signaling pathway_Homo sapiens_hsa033200.70049274
97Long-term potentiation_Homo sapiens_hsa047200.68628141
98Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.67711635
99Malaria_Homo sapiens_hsa051440.67606842
100GnRH signaling pathway_Homo sapiens_hsa049120.67356210
101Butanoate metabolism_Homo sapiens_hsa006500.65391842
102Maturity onset diabetes of the young_Homo sapiens_hsa049500.64384535
103NOD-like receptor signaling pathway_Homo sapiens_hsa046210.63945675
104Proteasome_Homo sapiens_hsa030500.63810249
105Mismatch repair_Homo sapiens_hsa034300.63025503
106Retinol metabolism_Homo sapiens_hsa008300.62450195
107Galactose metabolism_Homo sapiens_hsa000520.62217649
108Basal cell carcinoma_Homo sapiens_hsa052170.60761153
109Insulin secretion_Homo sapiens_hsa049110.58589489
110Steroid biosynthesis_Homo sapiens_hsa001000.57532197
111Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.57116238
112RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.57114681
113Glycosaminoglycan degradation_Homo sapiens_hsa005310.56371400
114Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.55260946
115Longevity regulating pathway - mammal_Homo sapiens_hsa042110.54611494
116Tryptophan metabolism_Homo sapiens_hsa003800.53104477
117Circadian entrainment_Homo sapiens_hsa047130.50613402
118Thyroid hormone signaling pathway_Homo sapiens_hsa049190.49091221
119Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.47977037
120Ras signaling pathway_Homo sapiens_hsa040140.47647231
121FoxO signaling pathway_Homo sapiens_hsa040680.46906539
122Wnt signaling pathway_Homo sapiens_hsa043100.46521118
123ABC transporters_Homo sapiens_hsa020100.46123439
124Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.45930998
125Focal adhesion_Homo sapiens_hsa045100.45668639
126Hedgehog signaling pathway_Homo sapiens_hsa043400.45034995
127Jak-STAT signaling pathway_Homo sapiens_hsa046300.44913731
128Metabolic pathways_Homo sapiens_hsa011000.44231399
129beta-Alanine metabolism_Homo sapiens_hsa004100.43739852
130Dilated cardiomyopathy_Homo sapiens_hsa054140.42912411
131Histidine metabolism_Homo sapiens_hsa003400.42701794
132Olfactory transduction_Homo sapiens_hsa047400.42475482
133Aldosterone synthesis and secretion_Homo sapiens_hsa049250.41237463
134Transcriptional misregulation in cancer_Homo sapiens_hsa052020.40672848
135GABAergic synapse_Homo sapiens_hsa047270.39582847
136Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.38592586
137African trypanosomiasis_Homo sapiens_hsa051430.38378120
138Staphylococcus aureus infection_Homo sapiens_hsa051500.38315798
139RNA degradation_Homo sapiens_hsa030180.38026424
140cAMP signaling pathway_Homo sapiens_hsa040240.37147854
141Salivary secretion_Homo sapiens_hsa049700.36874544
142Peroxisome_Homo sapiens_hsa041460.36515863
143Toll-like receptor signaling pathway_Homo sapiens_hsa046200.36182017
144T cell receptor signaling pathway_Homo sapiens_hsa046600.35924179
145Vascular smooth muscle contraction_Homo sapiens_hsa042700.34543130
146Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.34197505
147Circadian rhythm_Homo sapiens_hsa047100.32737298
148Cholinergic synapse_Homo sapiens_hsa047250.32660108
149MAPK signaling pathway_Homo sapiens_hsa040100.32656393
150Inositol phosphate metabolism_Homo sapiens_hsa005620.32622254
151Long-term depression_Homo sapiens_hsa047300.32193726
152Regulation of autophagy_Homo sapiens_hsa041400.31132760
153Lysine degradation_Homo sapiens_hsa003100.30851671
154Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.30808410
155Chemokine signaling pathway_Homo sapiens_hsa040620.30562769
156Cocaine addiction_Homo sapiens_hsa050300.30409753
157Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.29817289
158Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.29255963
159Tyrosine metabolism_Homo sapiens_hsa003500.27464503
160Pancreatic secretion_Homo sapiens_hsa049720.27065188
161Amphetamine addiction_Homo sapiens_hsa050310.26920722
162mTOR signaling pathway_Homo sapiens_hsa041500.19914321
163Adherens junction_Homo sapiens_hsa045200.17573123
164Platelet activation_Homo sapiens_hsa046110.16983008
165Regulation of actin cytoskeleton_Homo sapiens_hsa048100.16759397
166HIF-1 signaling pathway_Homo sapiens_hsa040660.15691239
167VEGF signaling pathway_Homo sapiens_hsa043700.15417635
168Cysteine and methionine metabolism_Homo sapiens_hsa002700.13706649
169Bile secretion_Homo sapiens_hsa049760.11268497
170Melanogenesis_Homo sapiens_hsa049160.11056422
171Central carbon metabolism in cancer_Homo sapiens_hsa052300.09922753
172Oocyte meiosis_Homo sapiens_hsa041140.08758142
173Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.08510201
174Dopaminergic synapse_Homo sapiens_hsa047280.07341577
175Gap junction_Homo sapiens_hsa045400.06876809
176Amoebiasis_Homo sapiens_hsa051460.06521897

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