EMC1

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: This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1Golgi transport vesicle coating (GO:0048200)5.39774055
2COPI coating of Golgi vesicle (GO:0048205)5.39774055
3axon ensheathment in central nervous system (GO:0032291)4.92556654
4central nervous system myelination (GO:0022010)4.92556654
5hemidesmosome assembly (GO:0031581)4.78303973
6cell adhesion mediated by integrin (GO:0033627)4.78284510
7nuclear pore complex assembly (GO:0051292)4.71488017
8skin morphogenesis (GO:0043589)4.48721063
9maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.34397217
10nuclear pore organization (GO:0006999)4.17949604
11neuron cell-cell adhesion (GO:0007158)4.15686412
12protein retention in ER lumen (GO:0006621)4.06868939
13negative regulation of synaptic transmission, GABAergic (GO:0032229)3.93995473
14synaptic vesicle exocytosis (GO:0016079)3.91508908
15presynaptic membrane organization (GO:0097090)3.75557163
16presynaptic membrane assembly (GO:0097105)3.75134837
17membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.74529792
18regulation of translational fidelity (GO:0006450)3.74521305
19cell-substrate junction assembly (GO:0007044)3.73244131
20endodermal cell differentiation (GO:0035987)3.71768386
21regulation of short-term neuronal synaptic plasticity (GO:0048172)3.69294563
22long-chain fatty acid biosynthetic process (GO:0042759)3.64802489
23L-amino acid import (GO:0043092)3.56421185
24transmission of nerve impulse (GO:0019226)3.54847371
25striatum development (GO:0021756)3.54741041
26protein hydroxylation (GO:0018126)3.47576195
27negative regulation of protein localization to cell surface (GO:2000009)3.45065862
28pore complex assembly (GO:0046931)3.41165360
29COPII vesicle coating (GO:0048208)3.39603522
30basement membrane organization (GO:0071711)3.39195913
31gamma-aminobutyric acid signaling pathway (GO:0007214)3.38381524
32peptidyl-proline hydroxylation (GO:0019511)3.35631237
33neurotransmitter-gated ion channel clustering (GO:0072578)3.33165285
34collagen fibril organization (GO:0030199)3.29755573
35fatty acid elongation (GO:0030497)3.27844506
36retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.26882895
37regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.24357707
38cerebellar granule cell differentiation (GO:0021707)3.24269302
39negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.22279863
40synaptic vesicle endocytosis (GO:0048488)3.21187386
41synaptic vesicle docking involved in exocytosis (GO:0016081)3.14374659
42synaptic vesicle maturation (GO:0016188)3.11117713
43vocalization behavior (GO:0071625)3.10998587
44myelination (GO:0042552)3.10798977
45startle response (GO:0001964)3.10514203
46positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.08922057
47chondrocyte proliferation (GO:0035988)3.07238645
48regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.05978816
49glucocorticoid receptor signaling pathway (GO:0042921)3.03293837
50neuronal action potential propagation (GO:0019227)3.02935716
51adherens junction assembly (GO:0034333)3.02337746
52neuron recognition (GO:0008038)3.01786610
53positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.01554413
54paraxial mesoderm development (GO:0048339)3.01173637
55axon ensheathment (GO:0008366)3.00596251
56ensheathment of neurons (GO:0007272)3.00596251
57G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.99809440
58long-term synaptic potentiation (GO:0060291)2.99748553
59regulation of synaptic transmission, glutamatergic (GO:0051966)2.99185925
60focal adhesion assembly (GO:0048041)2.99082210
61cell-substrate adherens junction assembly (GO:0007045)2.99082210
62ionotropic glutamate receptor signaling pathway (GO:0035235)2.98301585
63heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.97423273
64glutamate secretion (GO:0014047)2.96978755
65regulation of synaptic vesicle exocytosis (GO:2000300)2.96519045
66regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.96515277
67vesicle coating (GO:0006901)2.96205784
68adult walking behavior (GO:0007628)2.95976801
69DNA unwinding involved in DNA replication (GO:0006268)2.95927471
70neuron-neuron synaptic transmission (GO:0007270)2.95317448
71cellular potassium ion homeostasis (GO:0030007)2.94667541
72glutamate receptor signaling pathway (GO:0007215)2.94540627
73regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.94193310
74negative regulation of cytosolic calcium ion concentration (GO:0051481)2.93680612
75neurotransmitter uptake (GO:0001504)2.93301171
76activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.92645193
77synaptic transmission, glutamatergic (GO:0035249)2.91290805
78positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.90688549
79dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.90377014
80cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.90124367
81endothelial cell morphogenesis (GO:0001886)2.90094802
82relaxation of smooth muscle (GO:0044557)2.88992943
83protein localization to synapse (GO:0035418)2.88084323
84positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.87619571
85establishment of mitochondrion localization (GO:0051654)2.86978325
86proline biosynthetic process (GO:0006561)2.84085342
87mesodermal cell differentiation (GO:0048333)2.81640251
88retina vasculature morphogenesis in camera-type eye (GO:0061299)2.81193275
89positive regulation of nuclease activity (GO:0032075)2.81060601
90regulation of voltage-gated calcium channel activity (GO:1901385)2.80421788
91regulation of glutamate receptor signaling pathway (GO:1900449)2.79680260
92negative regulation of fatty acid transport (GO:2000192)2.79413668
93bone trabecula formation (GO:0060346)2.77244728
94planar cell polarity pathway involved in neural tube closure (GO:0090179)2.77229815
95endoplasmic reticulum unfolded protein response (GO:0030968)2.77134346
96regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.76085671
97astrocyte development (GO:0014002)2.75882505
98negative regulation of chondrocyte differentiation (GO:0032331)2.75168999
99protein localization to endosome (GO:0036010)2.75063225
100potassium ion import (GO:0010107)2.74058683
101mitotic chromosome condensation (GO:0007076)2.73526418
102postsynaptic membrane organization (GO:0001941)2.73521116
103positive regulation of potassium ion transport (GO:0043268)2.71474449
104regulation of cell communication by electrical coupling (GO:0010649)2.71427401
105cell migration involved in sprouting angiogenesis (GO:0002042)2.70992643
106mitotic cytokinesis (GO:0000281)2.70473559
107regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.70194669
108regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.69225403
109regulation of membrane repolarization (GO:0060306)2.68000351
110cell communication by electrical coupling (GO:0010644)2.67669070
111regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.67627677
112amino acid import (GO:0043090)2.67430833
113ER-nucleus signaling pathway (GO:0006984)2.67253630
114wound healing, spreading of epidermal cells (GO:0035313)2.66847310
115urinary tract smooth muscle contraction (GO:0014848)2.66427150
116retina layer formation (GO:0010842)2.65914197
117transferrin transport (GO:0033572)2.65831449
118response to redox state (GO:0051775)2.65612525
119regulation of synaptic transmission, GABAergic (GO:0032228)2.64584379
120cellular response to monoamine stimulus (GO:0071868)2.64561844
121cellular response to catecholamine stimulus (GO:0071870)2.64561844
122regulation of relaxation of muscle (GO:1901077)2.64389549
123substrate-dependent cell migration (GO:0006929)2.63963979
124cerebellar Purkinje cell differentiation (GO:0021702)2.63555341
125locomotory exploration behavior (GO:0035641)2.63412892
126regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.63292637
127positive regulation of osteoblast proliferation (GO:0033690)2.63198802
128negative regulation of neurotransmitter transport (GO:0051589)2.62922270
129regulation of RNA export from nucleus (GO:0046831)2.62291539
130cytoskeletal anchoring at plasma membrane (GO:0007016)2.61850491
131protein N-linked glycosylation via asparagine (GO:0018279)2.61168110
132peptidyl-asparagine modification (GO:0018196)2.60815845
133positive regulation of potassium ion transmembrane transport (GO:1901381)2.60491825
134mitotic sister chromatid segregation (GO:0000070)2.59714170
135cellular response to unfolded protein (GO:0034620)2.59401138
136neuron remodeling (GO:0016322)2.59367418
137UDP-N-acetylglucosamine metabolic process (GO:0006047)2.59295151
138negative regulation of amino acid transport (GO:0051956)2.58761720
139atrial cardiac muscle cell action potential (GO:0086014)2.58747836
140membrane hyperpolarization (GO:0060081)2.57330883
141membrane depolarization during action potential (GO:0086010)2.56759894
142regulation of amyloid precursor protein catabolic process (GO:1902991)2.55619267
143axonal fasciculation (GO:0007413)2.55251631
144positive regulation of action potential (GO:0045760)2.54836752
145sequestering of extracellular ligand from receptor (GO:0035581)2.54069945
146regulation of mitotic spindle organization (GO:0060236)2.54049173
147cellular response to epinephrine stimulus (GO:0071872)2.53746326
148regulation of glutamate secretion (GO:0014048)2.53675679
149spliceosomal tri-snRNP complex assembly (GO:0000244)2.53230309
150regulation of amino acid transport (GO:0051955)2.53189545
151regulation of beta-amyloid formation (GO:1902003)2.52530503
152mesenchymal-epithelial cell signaling (GO:0060638)2.51911493
153cytoskeleton-dependent cytokinesis (GO:0061640)2.51486795
154trivalent inorganic cation transport (GO:0072512)2.51316020
155ferric iron transport (GO:0015682)2.51316020
156desmosome organization (GO:0002934)2.51221267
157nonmotile primary cilium assembly (GO:0035058)2.50704281
158response to auditory stimulus (GO:0010996)2.49932301
159regulation of synaptic vesicle transport (GO:1902803)2.49866466
160sister chromatid segregation (GO:0000819)2.49613015
161innervation (GO:0060384)2.49602318
162establishment of apical/basal cell polarity (GO:0035089)2.49488996
163epithelial cell-cell adhesion (GO:0090136)2.48662148
164multicellular organismal signaling (GO:0035637)2.48263899
165collagen metabolic process (GO:0032963)2.48088669
166regulation of excitatory postsynaptic membrane potential (GO:0060079)2.47639256
167regulation of translational termination (GO:0006449)2.47221382
168regulation of postsynaptic membrane potential (GO:0060078)2.46937960
169mitotic nuclear envelope disassembly (GO:0007077)2.45674545
170protein N-linked glycosylation (GO:0006487)2.45358615
171regulation of nuclease activity (GO:0032069)2.44600707
172protein localization to microtubule (GO:0035372)2.43885414
173cellular protein complex localization (GO:0034629)2.42303388
174nuclear envelope disassembly (GO:0051081)2.40981115
175membrane disassembly (GO:0030397)2.40981115
176cellular response to topologically incorrect protein (GO:0035967)2.40387808
177regulation of transforming growth factor beta2 production (GO:0032909)2.39875780
178regulation of nucleobase-containing compound transport (GO:0032239)2.39200523
179Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.38599240
180membrane protein ectodomain proteolysis (GO:0006509)2.37945883
181protein heterotrimerization (GO:0070208)2.36270708
182notochord development (GO:0030903)2.36263673
183morphogenesis of an epithelial sheet (GO:0002011)2.36256339
184apoptotic cell clearance (GO:0043277)2.33412194
185regulation of hippo signaling (GO:0035330)2.32293964
186semaphorin-plexin signaling pathway (GO:0071526)2.32249563
187activation of Rac GTPase activity (GO:0032863)2.32155788
188mitotic sister chromatid cohesion (GO:0007064)2.32131590
189regulation of establishment of planar polarity (GO:0090175)2.31795331
190heparan sulfate proteoglycan metabolic process (GO:0030201)2.31155975
191endocardial cushion development (GO:0003197)2.30663853
192negative regulation of keratinocyte proliferation (GO:0010839)2.29568311
1934-hydroxyproline metabolic process (GO:0019471)2.28825930
194corticosteroid receptor signaling pathway (GO:0031958)2.28317778
195wound healing, spreading of cells (GO:0044319)2.28174062
196collagen catabolic process (GO:0030574)2.28145108
197insulin-like growth factor receptor signaling pathway (GO:0048009)2.28075623
198positive regulation of blood vessel endothelial cell migration (GO:0043536)2.28018249
199regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.27355961
200DNA duplex unwinding (GO:0032508)2.26811515

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.16274277
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.00005264
3GBX2_23144817_ChIP-Seq_PC3_Human4.62312599
4FOXM1_23109430_ChIP-Seq_U2OS_Human3.79890263
5TAF15_26573619_Chip-Seq_HEK293_Human3.09761997
6NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.86668354
7EZH2_22144423_ChIP-Seq_EOC_Human2.63452981
8SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.54600133
9PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.53954524
10AR_21572438_ChIP-Seq_LNCaP_Human2.53930109
11IGF1R_20145208_ChIP-Seq_DFB_Human2.53639390
12CLOCK_20551151_ChIP-Seq_293T_Human2.52539134
13ZFP57_27257070_Chip-Seq_ESCs_Mouse2.47230292
14SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.44885281
15AR_21909140_ChIP-Seq_LNCAP_Human2.41088596
16RARG_19884340_ChIP-ChIP_MEFs_Mouse2.40095966
17HIF1A_21447827_ChIP-Seq_MCF-7_Human2.34235525
18ESR1_15608294_ChIP-ChIP_MCF-7_Human2.31473515
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.30272684
20TRIM28_21343339_ChIP-Seq_HEK293_Human2.28803099
21KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.27783354
22MYC_18555785_ChIP-Seq_MESCs_Mouse2.21975533
23SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.18545209
24ZNF263_19887448_ChIP-Seq_K562_Human2.17015227
25SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.10666619
26RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.09220796
27TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.08863650
28CTBP2_25329375_ChIP-Seq_LNCAP_Human2.08251153
29EGR1_19374776_ChIP-ChIP_THP-1_Human2.07929538
30SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.06600223
31JARID2_20064375_ChIP-Seq_MESCs_Mouse2.06551721
32POU3F2_20337985_ChIP-ChIP_501MEL_Human2.00948374
33CTBP1_25329375_ChIP-Seq_LNCAP_Human2.00645826
34MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.99594703
35OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.99542558
36SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.99408372
37TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.97678074
38DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.97020964
39SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.96427551
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.92079484
41EZH2_27304074_Chip-Seq_ESCs_Mouse1.91851206
42ER_23166858_ChIP-Seq_MCF-7_Human1.90348515
43P300_19829295_ChIP-Seq_ESCs_Human1.89686894
44P300_27058665_Chip-Seq_ZR-75-30cells_Human1.89254732
45MTF2_20144788_ChIP-Seq_MESCs_Mouse1.87440799
46SMAD4_21799915_ChIP-Seq_A2780_Human1.86881908
47REST_21632747_ChIP-Seq_MESCs_Mouse1.86389335
48EZH2_18974828_ChIP-Seq_MESCs_Mouse1.85910391
49RNF2_18974828_ChIP-Seq_MESCs_Mouse1.85910391
50EED_16625203_ChIP-ChIP_MESCs_Mouse1.85124566
51DROSHA_22980978_ChIP-Seq_HELA_Human1.83843902
52SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.83433829
53CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.81737147
54WT1_19549856_ChIP-ChIP_CCG9911_Human1.81421228
55SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.80015373
56CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.79156884
57CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.77005949
58KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.76708091
59FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.76393317
60SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.75142568
61SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.75142568
62TP53_22127205_ChIP-Seq_IMR90_Human1.73111125
63BRD4_25478319_ChIP-Seq_HGPS_Human1.72651227
64UBF1/2_26484160_Chip-Seq_HMECs_Human1.71187817
65WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.71153800
66FUS_26573619_Chip-Seq_HEK293_Human1.71017818
67POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.69114674
68PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.66936060
69JARID2_20075857_ChIP-Seq_MESCs_Mouse1.66890393
70STAT3_23295773_ChIP-Seq_U87_Human1.66831709
71PIAS1_25552417_ChIP-Seq_VCAP_Human1.64342761
72ELK3_25401928_ChIP-Seq_HUVEC_Human1.63749196
73SMAD3_21741376_ChIP-Seq_EPCs_Human1.63555361
74EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.62804372
75ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.62714392
76ZFX_18555785_ChIP-Seq_MESCs_Mouse1.60140742
77NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.59971141
78NELFA_20434984_ChIP-Seq_ESCs_Mouse1.59188631
79VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.58923511
80RARB_27405468_Chip-Seq_BRAIN_Mouse1.58918687
81GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.57988531
82SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.56784605
83CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.56055369
84EZH2_27294783_Chip-Seq_ESCs_Mouse1.55460407
85MYCN_18555785_ChIP-Seq_MESCs_Mouse1.54306097
86ATF3_27146783_Chip-Seq_COLON_Human1.52982343
87HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.52736101
88ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.52502079
89TOP2B_26459242_ChIP-Seq_MCF-7_Human1.52091744
90CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.50357399
91VDR_22108803_ChIP-Seq_LS180_Human1.48739539
92RBPJ_22232070_ChIP-Seq_NCS_Mouse1.48591693
93SOX9_24532713_ChIP-Seq_HFSC_Mouse1.48522370
94RNF2_27304074_Chip-Seq_ESCs_Mouse1.47683606
95REST_18959480_ChIP-ChIP_MESCs_Mouse1.47059246
96AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.46849202
97TCF4_23295773_ChIP-Seq_U87_Human1.46480917
98E2F1_21310950_ChIP-Seq_MCF-7_Human1.46419636
99SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.45641988
100UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.45318005
101RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.44384149
102SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.43454646
103TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.42116883
104MYC_19030024_ChIP-ChIP_MESCs_Mouse1.41774061
105EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.41558019
106SOX2_21211035_ChIP-Seq_LN229_Gbm1.39763580
107KLF4_18555785_ChIP-Seq_MESCs_Mouse1.37966890
108SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.37835713
109SUZ12_27294783_Chip-Seq_ESCs_Mouse1.34424437
110TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.34256529
111EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.33697605
112E2F4_17652178_ChIP-ChIP_JURKAT_Human1.33610191
113CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.33395694
114MYC_19079543_ChIP-ChIP_MESCs_Mouse1.33207528
115ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.33027329
116HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.32607213
117DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.32339847
118KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.31470344
119P53_22127205_ChIP-Seq_FIBROBLAST_Human1.29705273
120NR3C1_21868756_ChIP-Seq_MCF10A_Human1.28984146
121PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.28818736
122AR_25329375_ChIP-Seq_VCAP_Human1.28532338
123TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.28100245
124ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.28016098
125ARNT_22903824_ChIP-Seq_MCF-7_Human1.27976372
126DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.27238116
127E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.27115076
128BMI1_23680149_ChIP-Seq_NPCS_Mouse1.26982336
129UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.26257654
130DCP1A_22483619_ChIP-Seq_HELA_Human1.25638896
131RUNX2_22187159_ChIP-Seq_PCA_Human1.25387210
132RACK7_27058665_Chip-Seq_MCF-7_Human1.25241227
133TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.24617138
134EP300_21415370_ChIP-Seq_HL-1_Mouse1.23672970
135NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.23432455
136NANOG_18555785_Chip-Seq_ESCs_Mouse1.23408224
137TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.23209343
138AHR_22903824_ChIP-Seq_MCF-7_Human1.22341451
139TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.21754693
140TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.20860219
141RNF2_27304074_Chip-Seq_NSC_Mouse1.20588759
142ZNF217_24962896_ChIP-Seq_MCF-7_Human1.19830056
143TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19283563
144MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.18417745
145THAP11_20581084_ChIP-Seq_MESCs_Mouse1.17975344
146E2F1_18555785_Chip-Seq_ESCs_Mouse1.17457425
147EWS_26573619_Chip-Seq_HEK293_Human1.17277277
148MYC_22102868_ChIP-Seq_BL_Human1.16772727
149JUN_21703547_ChIP-Seq_K562_Human1.16764880
150CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.16116719
151SOX17_20123909_ChIP-Seq_XEN_Mouse1.15766162
152TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14861524
153PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.14861000
154SOX9_26525672_Chip-Seq_HEART_Mouse1.14704172
155MYC_18358816_ChIP-ChIP_MESCs_Mouse1.13742171
156YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.13721098
157NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.12972031
158ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.12886178
159CMYC_18555785_Chip-Seq_ESCs_Mouse1.12561958
160XRN2_22483619_ChIP-Seq_HELA_Human1.12550982
161CBX2_27304074_Chip-Seq_ESCs_Mouse1.12216841
162PKCTHETA_26484144_Chip-Seq_BREAST_Human1.11634834
163PRDM14_20953172_ChIP-Seq_ESCs_Human1.11410257
164NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.09533189
165TP53_23651856_ChIP-Seq_MEFs_Mouse1.09515650
166TP53_16413492_ChIP-PET_HCT116_Human1.09037663
167CHD1_26751641_Chip-Seq_LNCaP_Human1.09008583
168FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.08934781
169AR_19668381_ChIP-Seq_PC3_Human1.08907451
170ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.08863577
171EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.07802202
172MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.07347639
173CTNNB1_20460455_ChIP-Seq_HCT116_Human1.07183465
174BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.06969341
175MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.06030083
176PCGF2_27294783_Chip-Seq_ESCs_Mouse1.04549834
177CJUN_26792858_Chip-Seq_BT549_Human1.04528297
178NR3C1_23031785_ChIP-Seq_PC12_Mouse1.03752398
179POU5F1_16153702_ChIP-ChIP_HESCs_Human1.03159172
180SUZ12_27294783_Chip-Seq_NPCs_Mouse1.03078425
181SUZ12_18555785_Chip-Seq_ESCs_Mouse1.02796728
182KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.02643163
183FLI1_27457419_Chip-Seq_LIVER_Mouse1.02214310
184CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01898233
185CDX2_19796622_ChIP-Seq_MESCs_Mouse1.01689593
186MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.01349939
187KDM2B_26808549_Chip-Seq_REH_Human1.01207765
188POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.00550718
189SALL4_18804426_ChIP-ChIP_XEN_Mouse1.00387655
190STAT3_1855785_ChIP-Seq_MESCs_Mouse1.00249397
191CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.00140505
192FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.98932393
193STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.97783650
194P53_22387025_ChIP-Seq_ESCs_Mouse0.97775679
195NRF2_20460467_ChIP-Seq_MEFs_Mouse0.97507301
196TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.97132680
197GATA4_21415370_ChIP-Seq_HL-1_Mouse0.97050871
198KDM5A_27292631_Chip-Seq_BREAST_Human0.96885614

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen5.72098170
2MP0003705_abnormal_hypodermis_morpholog3.98996215
3MP0004272_abnormal_basement_membrane3.86758455
4MP0003880_abnormal_central_pattern3.80492549
5MP0004859_abnormal_synaptic_plasticity2.85327749
6MP0002877_abnormal_melanocyte_morpholog2.81582960
7MP0009046_muscle_twitch2.79589508
8MP0005257_abnormal_intraocular_pressure2.77491465
9MP0003566_abnormal_cell_adhesion2.76896413
10MP0002064_seizures2.60273068
11MP0009745_abnormal_behavioral_response2.56297131
12MP0003690_abnormal_glial_cell2.55718000
13MP0001486_abnormal_startle_reflex2.54151891
14MP0003635_abnormal_synaptic_transmissio2.52679292
15MP0002272_abnormal_nervous_system2.52140736
16MP0004270_analgesia2.43821485
17MP0000920_abnormal_myelination2.36123939
18MP0001968_abnormal_touch/_nociception2.30083159
19MP0002734_abnormal_mechanical_nocicepti2.25320829
20MP0009780_abnormal_chondrocyte_physiolo2.20628908
21MP0010352_gastrointestinal_tract_polyps2.20255067
22MP0004233_abnormal_muscle_weight2.16776600
23MP0005171_absent_coat_pigmentation2.10556180
24MP0002063_abnormal_learning/memory/cond2.08176529
25MP0005551_abnormal_eye_electrophysiolog2.05175353
26MP0001529_abnormal_vocalization2.00933214
27MP0002572_abnormal_emotion/affect_behav1.97725298
28MP0005646_abnormal_pituitary_gland1.97066648
29MP0002735_abnormal_chemical_nociception1.96820839
30MP0003950_abnormal_plasma_membrane1.96460753
31MP0003329_amyloid_beta_deposits1.94602381
32MP0005275_abnormal_skin_tensile1.92053514
33MP0001984_abnormal_olfaction1.87964576
34MP0005645_abnormal_hypothalamus_physiol1.87917483
35MP0002736_abnormal_nociception_after1.87375141
36MP0002067_abnormal_sensory_capabilities1.86394588
37MP0002060_abnormal_skin_morphology1.82965193
38MP0010368_abnormal_lymphatic_system1.80655963
39MP0000537_abnormal_urethra_morphology1.77155345
40MP0000778_abnormal_nervous_system1.76138927
41MP0003941_abnormal_skin_development1.74453465
42MP0010030_abnormal_orbit_morphology1.73605616
43MP0001958_emphysema1.73265384
44MP0004215_abnormal_myocardial_fiber1.73258404
45MP0004142_abnormal_muscle_tone1.73031517
46MP0005076_abnormal_cell_differentiation1.71894033
47MP0003632_abnormal_nervous_system1.69771465
48MP0009384_cardiac_valve_regurgitation1.69654365
49MP0003634_abnormal_glial_cell1.68506443
50MP0002229_neurodegeneration1.65261869
51MP0003091_abnormal_cell_migration1.62370984
52MP0003385_abnormal_body_wall1.62142779
53MP0001440_abnormal_grooming_behavior1.61485531
54MP0001502_abnormal_circadian_rhythm1.61067117
55MP0001849_ear_inflammation1.59920143
56MP0008569_lethality_at_weaning1.55766477
57MP0005503_abnormal_tendon_morphology1.55653243
58MP0006054_spinal_hemorrhage1.55448890
59MP0001970_abnormal_pain_threshold1.54948102
60MP0003111_abnormal_nucleus_morphology1.54497984
61MP0004036_abnormal_muscle_relaxation1.51695461
62MP0000751_myopathy1.51554090
63MP0003122_maternal_imprinting1.50132955
64MP0005023_abnormal_wound_healing1.49857492
65MP0001348_abnormal_lacrimal_gland1.45262434
66MP0000013_abnormal_adipose_tissue1.44828697
67MP0003631_nervous_system_phenotype1.44683988
68MP0001661_extended_life_span1.43483036
69MP0000762_abnormal_tongue_morphology1.40630750
70MP0001501_abnormal_sleep_pattern1.40511132
71MP0004924_abnormal_behavior1.40098266
72MP0005386_behavior/neurological_phenoty1.40098266
73MP0004742_abnormal_vestibular_system1.40004754
74MP0002733_abnormal_thermal_nociception1.39261108
75MP0003279_aneurysm1.39026261
76MP0004858_abnormal_nervous_system1.38956993
77MP0003183_abnormal_peptide_metabolism1.38264358
78MP0001905_abnormal_dopamine_level1.37615168
79MP0001915_intracranial_hemorrhage1.37604297
80MP0005423_abnormal_somatic_nervous1.36639004
81MP0004085_abnormal_heartbeat1.35759587
82MP0000579_abnormal_nail_morphology1.35667359
83MP0005409_darkened_coat_color1.35470647
84MP0000749_muscle_degeneration1.35345585
85MP0001177_atelectasis1.32642792
86MP0000733_abnormal_muscle_development1.32554627
87MP0002882_abnormal_neuron_morphology1.31942724
88MP0009053_abnormal_anal_canal1.31314294
89MP0002090_abnormal_vision1.29999753
90MP0003136_yellow_coat_color1.29537251
91MP0003633_abnormal_nervous_system1.27803121
92MP0004145_abnormal_muscle_electrophysio1.26260323
93MP0000428_abnormal_craniofacial_morphol1.25861441
94MP0008932_abnormal_embryonic_tissue1.24695354
95MP0002896_abnormal_bone_mineralization1.24510492
96MP0002066_abnormal_motor_capabilities/c1.23735779
97MP0004084_abnormal_cardiac_muscle1.23033779
98MP0008260_abnormal_autophagy1.22439143
99MP0003942_abnormal_urinary_system1.22080772
100MP0000955_abnormal_spinal_cord1.21587594
101MP0000534_abnormal_ureter_morphology1.20506307
102MP0002557_abnormal_social/conspecific_i1.20432901
103MP0008007_abnormal_cellular_replicative1.19967654
104MP0000566_synostosis1.19376367
105MP0005253_abnormal_eye_physiology1.17610581
106MP0006276_abnormal_autonomic_nervous1.17504238
107MP0001730_embryonic_growth_arrest1.17124514
108MP0003137_abnormal_impulse_conducting1.16357784
109MP0010094_abnormal_chromosome_stability1.16230429
110MP0006292_abnormal_olfactory_placode1.15728521
111MP0006072_abnormal_retinal_apoptosis1.15419700
112MP0005058_abnormal_lysosome_morphology1.14936317
113MP0003984_embryonic_growth_retardation1.11822851
114MP0002184_abnormal_innervation1.11564303
115MP0002837_dystrophic_cardiac_calcinosis1.11127690
116MP0002697_abnormal_eye_size1.09759407
117MP0000767_abnormal_smooth_muscle1.09589747
118MP0004957_abnormal_blastocyst_morpholog1.09437100
119MP0002084_abnormal_developmental_patter1.09406465
120MP0001672_abnormal_embryogenesis/_devel1.09376349
121MP0005380_embryogenesis_phenotype1.09376349
122MP0002972_abnormal_cardiac_muscle1.08806626
123MP0002332_abnormal_exercise_endurance1.08116495
124MP0002089_abnormal_postnatal_growth/wei1.08050587
125MP0001299_abnormal_eye_distance/1.07864665
126MP0002086_abnormal_extraembryonic_tissu1.07817392
127MP0002752_abnormal_somatic_nervous1.06820285
128MP0002088_abnormal_embryonic_growth/wei1.06776593
129MP0003693_abnormal_embryo_hatching1.06604716
130MP0005620_abnormal_muscle_contractility1.06481022
131MP0005197_abnormal_uvea_morphology1.06182333
132MP0003172_abnormal_lysosome_physiology1.04284372
133MP0003755_abnormal_palate_morphology1.04001655
134MP0003937_abnormal_limbs/digits/tail_de1.02723304
135MP0004811_abnormal_neuron_physiology1.02570462
136MP0010234_abnormal_vibrissa_follicle1.01914023
137MP0003115_abnormal_respiratory_system1.01568632
138MP0000747_muscle_weakness1.01362496
139MP0005508_abnormal_skeleton_morphology1.00751649
140MP0003935_abnormal_craniofacial_develop0.99943725
141MP0009697_abnormal_copulation0.99882155
142MP0001963_abnormal_hearing_physiology0.99866867
143MP0010386_abnormal_urinary_bladder0.99777354
144MP0004197_abnormal_fetal_growth/weight/0.99606225
145MP0002269_muscular_atrophy0.99583867
146MP0008057_abnormal_DNA_replication0.99118414
147MP0002085_abnormal_embryonic_tissue0.96286997
148MP0002080_prenatal_lethality0.95986141
149MP0000604_amyloidosis0.94724464
150MP0000432_abnormal_head_morphology0.93955817
151MP0005195_abnormal_posterior_eye0.93794098
152MP0005623_abnormal_meninges_morphology0.93480774
153MP0005621_abnormal_cell_physiology0.93095175
154MP0001697_abnormal_embryo_size0.91663767
155MP0002092_abnormal_eye_morphology0.90746596
156MP0001243_abnormal_dermal_layer0.90656585
157MP0005330_cardiomyopathy0.89998906
158MP0000350_abnormal_cell_proliferation0.89899269
159MP0003077_abnormal_cell_cycle0.89752483
160MP0004885_abnormal_endolymph0.87382208
161MP0000759_abnormal_skeletal_muscle0.86562789
162MP0009250_abnormal_appendicular_skeleto0.84685942
163MP0005595_abnormal_vascular_smooth0.84279391
164MP0002938_white_spotting0.83644227
165MP0002876_abnormal_thyroid_physiology0.83216517
166MP0010307_abnormal_tumor_latency0.82123100
167MP0002152_abnormal_brain_morphology0.82082340
168MP0000003_abnormal_adipose_tissue0.81662182
169MP0002925_abnormal_cardiovascular_devel0.79568212
170MP0000467_abnormal_esophagus_morphology0.79564939
171MP0000015_abnormal_ear_pigmentation0.79371061
172MP0002822_catalepsy0.79164143
173MP0003315_abnormal_perineum_morphology0.79020780
174MP0000462_abnormal_digestive_system0.77074451
175MP0002108_abnormal_muscle_morphology0.76945596
176MP0004087_abnormal_muscle_fiber0.76620977
177MP0004134_abnormal_chest_morphology0.76584911
178MP0000569_abnormal_digit_pigmentation0.76205977
179MP0001879_abnormal_lymphatic_vessel0.76168242
180MP0008775_abnormal_heart_ventricle0.74877110
181MP0005384_cellular_phenotype0.74798888
182MP0002069_abnormal_eating/drinking_beha0.74658213
183MP0002638_abnormal_pupillary_reflex0.74620180
184MP0000358_abnormal_cell_content/0.73700205
185MP0001614_abnormal_blood_vessel0.73377964
186MP0002114_abnormal_axial_skeleton0.73257016
187MP0002106_abnormal_muscle_physiology0.72463190
188MP0009840_abnormal_foam_cell0.72020013

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)6.28830500
2Protrusio acetabuli (HP:0003179)5.23907859
3Focal motor seizures (HP:0011153)3.87978467
4Epileptic encephalopathy (HP:0200134)3.67137741
5Atrophic scars (HP:0001075)3.66615574
6Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.58906209
7Degeneration of the lateral corticospinal tracts (HP:0002314)3.58906209
8Pheochromocytoma (HP:0002666)3.47863517
9Abnormality of dentin (HP:0010299)3.37951734
10Bladder diverticulum (HP:0000015)3.36180907
11Aplasia involving bones of the upper limbs (HP:0009823)3.26828099
12Aplasia of the phalanges of the hand (HP:0009802)3.26828099
13Aplasia involving bones of the extremities (HP:0009825)3.26828099
14Aortic dissection (HP:0002647)3.16029067
15Ulnar bowing (HP:0003031)3.11767752
16Septo-optic dysplasia (HP:0100842)3.10281708
17Atonic seizures (HP:0010819)3.08133995
18Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.07788764
19Febrile seizures (HP:0002373)3.03317839
20Abnormal hair whorl (HP:0010721)3.02286096
21Focal seizures (HP:0007359)3.02033792
22Ankle contracture (HP:0006466)2.98442140
23Wormian bones (HP:0002645)2.96531716
24Arterial tortuosity (HP:0005116)2.96483341
25Shallow orbits (HP:0000586)2.95370651
26Hyperacusis (HP:0010780)2.93246544
27Fragile skin (HP:0001030)2.93180703
28Dialeptic seizures (HP:0011146)2.89239150
29Vascular tortuosity (HP:0004948)2.87767150
30Soft skin (HP:0000977)2.86094133
31Neurofibrillary tangles (HP:0002185)2.85181653
32Akinesia (HP:0002304)2.80082937
33Progressive cerebellar ataxia (HP:0002073)2.78928149
34Vertebral compression fractures (HP:0002953)2.77288147
35Spinal rigidity (HP:0003306)2.76224703
36Cerebral hypomyelination (HP:0006808)2.76134334
37Dysdiadochokinesis (HP:0002075)2.74775437
38Short nail (HP:0001799)2.73365398
39Neuroendocrine neoplasm (HP:0100634)2.72358219
40Abnormality of the corticospinal tract (HP:0002492)2.71093467
41Gait imbalance (HP:0002141)2.69970741
42Cervical subluxation (HP:0003308)2.66340634
43Muscle hypertrophy of the lower extremities (HP:0008968)2.65161617
44Supranuclear gaze palsy (HP:0000605)2.64602293
45Absence seizures (HP:0002121)2.63921249
46Follicular hyperkeratosis (HP:0007502)2.60159362
47Submucous cleft hard palate (HP:0000176)2.58052656
48Generalized tonic-clonic seizures (HP:0002069)2.57830165
49Cerebral aneurysm (HP:0004944)2.57219293
50Renal duplication (HP:0000075)2.54309252
51Central scotoma (HP:0000603)2.53992401
52Atrial fibrillation (HP:0005110)2.53372760
53Congenital primary aphakia (HP:0007707)2.53021147
54Scanning speech (HP:0002168)2.52489446
55Medial flaring of the eyebrow (HP:0010747)2.48015062
56Insomnia (HP:0100785)2.46790384
57Nephrogenic diabetes insipidus (HP:0009806)2.46200951
58Slow saccadic eye movements (HP:0000514)2.43780677
59Myokymia (HP:0002411)2.40170116
60Calf muscle hypertrophy (HP:0008981)2.39214794
61Visual hallucinations (HP:0002367)2.39188734
62Congenital stationary night blindness (HP:0007642)2.35836905
63Vaginal atresia (HP:0000148)2.35091340
64Elbow flexion contracture (HP:0002987)2.32843634
65Blue irides (HP:0000635)2.31413595
66Aortic aneurysm (HP:0004942)2.30503424
67Exercise-induced myalgia (HP:0003738)2.29416267
68Genital tract atresia (HP:0001827)2.29404552
69Bowel diverticulosis (HP:0005222)2.28245466
70Mitral valve prolapse (HP:0001634)2.28206728
71Abnormality of the labia minora (HP:0012880)2.26265510
72Abnormality of oral frenula (HP:0000190)2.25728949
73Biconcave vertebral bodies (HP:0004586)2.25039938
74Ankyloglossia (HP:0010296)2.24049571
75Genu recurvatum (HP:0002816)2.23651321
76Abnormality of the calf musculature (HP:0001430)2.23218842
77Absent septum pellucidum (HP:0001331)2.23133506
78Blue sclerae (HP:0000592)2.23076134
79Alacrima (HP:0000522)2.22480850
80Peripheral hypomyelination (HP:0007182)2.22309670
81Dysmetria (HP:0001310)2.22239249
82Neonatal short-limb short stature (HP:0008921)2.18847761
83Fetal akinesia sequence (HP:0001989)2.18679772
84Natal tooth (HP:0000695)2.18530729
85Primary atrial arrhythmia (HP:0001692)2.17053653
86Decreased lacrimation (HP:0000633)2.15089372
87Abnormality of the acetabulum (HP:0003170)2.14643402
88Abnormal delivery (HP:0001787)2.14531400
89Entropion (HP:0000621)2.14153834
90Hyperventilation (HP:0002883)2.13230339
91Truncal ataxia (HP:0002078)2.12987073
92Onion bulb formation (HP:0003383)2.12931702
93Mitral stenosis (HP:0001718)2.12428745
94Gaze-evoked nystagmus (HP:0000640)2.12345624
95Generalized myoclonic seizures (HP:0002123)2.11805292
96Spastic gait (HP:0002064)2.11472225
97Upper limb amyotrophy (HP:0009129)2.10820661
98Distal upper limb amyotrophy (HP:0007149)2.10820661
99Abnormality of the septum pellucidum (HP:0007375)2.09939258
100Osteolytic defects of the phalanges of the hand (HP:0009771)2.09842432
101Osteolytic defects of the hand bones (HP:0009699)2.09842432
102Prolonged QT interval (HP:0001657)2.08608889
103Disproportionate tall stature (HP:0001519)2.08514573
104Poor coordination (HP:0002370)2.08020838
105Flat cornea (HP:0007720)2.08003566
106Joint laxity (HP:0001388)2.07931761
107Sensory axonal neuropathy (HP:0003390)2.07931163
108Abnormality of macular pigmentation (HP:0008002)2.07283626
109Leukodystrophy (HP:0002415)2.06349501
110Broad face (HP:0000283)2.04186768
111Hyperextensible skin (HP:0000974)2.02977714
112Postural instability (HP:0002172)2.02751137
113Left ventricular hypertrophy (HP:0001712)2.01485243
114Hypoplastic left heart (HP:0004383)2.00672603
115Supraventricular tachycardia (HP:0004755)2.00425128
116Acute necrotizing encephalopathy (HP:0006965)2.00398069
117Abnormality of carpal bone ossification (HP:0006257)1.97776783
118Broad-based gait (HP:0002136)1.97575357
119Spinal cord lesions (HP:0100561)1.96913481
120Syringomyelia (HP:0003396)1.96913481
121Abnormality of saccadic eye movements (HP:0000570)1.96203324
122Supraventricular arrhythmia (HP:0005115)1.94689726
123Ankle clonus (HP:0011448)1.93727561
124Clumsiness (HP:0002312)1.93474575
125Retinal dysplasia (HP:0007973)1.93261436
126Hemiparesis (HP:0001269)1.92986126
127Vertebral arch anomaly (HP:0008438)1.92230372
128Selective tooth agenesis (HP:0001592)1.91464427
129Renovascular hypertension (HP:0100817)1.91089944
130Achilles tendon contracture (HP:0001771)1.91067544
131Wide anterior fontanel (HP:0000260)1.90898260
132Abnormal ossification of hand bones (HP:0005921)1.90806691
133Polyphagia (HP:0002591)1.90057296
134Diminished movement (HP:0002374)1.89836094
135Elfin facies (HP:0004428)1.88994568
136Epileptiform EEG discharges (HP:0011182)1.87474959
137Progressive macrocephaly (HP:0004481)1.87094579
138Breech presentation (HP:0001623)1.86324916
139Excessive salivation (HP:0003781)1.86068416
140Drooling (HP:0002307)1.86068416
141Foot dorsiflexor weakness (HP:0009027)1.85885911
142Limb dystonia (HP:0002451)1.85800682
143Action tremor (HP:0002345)1.84792505
144Nonimmune hydrops fetalis (HP:0001790)1.84679911
145Optic nerve hypoplasia (HP:0000609)1.84294135
146Scotoma (HP:0000575)1.84260970
147Lower limb muscle weakness (HP:0007340)1.84070157
148Asymmetry of the thorax (HP:0001555)1.84003091
149Relative macrocephaly (HP:0004482)1.83909924
150Parakeratosis (HP:0001036)1.83888541
151Deviation of the thumb (HP:0009603)1.83421212
152Protruding tongue (HP:0010808)1.83393331
153Abnormal mitochondria in muscle tissue (HP:0008316)1.83323713
154Cerebral inclusion bodies (HP:0100314)1.82551277
155Spondylolisthesis (HP:0003302)1.82517393
156EEG with generalized epileptiform discharges (HP:0011198)1.82207129
157Distal lower limb amyotrophy (HP:0008944)1.82157218
158Mitral regurgitation (HP:0001653)1.81476191
159Long eyelashes (HP:0000527)1.81086925
160Advanced eruption of teeth (HP:0006288)1.80752949
161Overriding aorta (HP:0002623)1.80541885
162Hypoplastic heart (HP:0001961)1.80517591
163Abnormal eating behavior (HP:0100738)1.79745524
164Trismus (HP:0000211)1.79299933
165Hand muscle atrophy (HP:0009130)1.77809654
166EMG: myopathic abnormalities (HP:0003458)1.77466512
167Pterygium (HP:0001059)1.77167348
168Overgrowth (HP:0001548)1.76954484
169Specific learning disability (HP:0001328)1.76378927
170Optic disc pallor (HP:0000543)1.75721621
171Anxiety (HP:0000739)1.75489924
172Protruding ear (HP:0000411)1.75120541
173Broad metatarsal (HP:0001783)1.74916323
174Bowing of the arm (HP:0006488)1.74212720
175Bowed forearm bones (HP:0003956)1.74212720
176Poor speech (HP:0002465)1.74076331
177Dilatation of the ascending aorta (HP:0005111)1.73898127
178Inguinal hernia (HP:0000023)1.73198437
179Coxa vara (HP:0002812)1.71725051
180Abnormality of the calcaneus (HP:0008364)1.70079011
181Abnormality of the Achilles tendon (HP:0005109)1.70032348
182Patellar dislocation (HP:0002999)1.69426009
183Coronal craniosynostosis (HP:0004440)1.69300624
184Premature skin wrinkling (HP:0100678)1.68825170
185Upper limb muscle weakness (HP:0003484)1.68746709
186Long palpebral fissure (HP:0000637)1.67336417
187Flat acetabular roof (HP:0003180)1.65264453
188Small epiphyses (HP:0010585)1.64883084
189Long toe (HP:0010511)1.64342113
190Limited elbow extension (HP:0001377)1.63815019
191Aneurysm (HP:0002617)1.63643954
192Lower limb amyotrophy (HP:0007210)1.63267487
193Difficulty climbing stairs (HP:0003551)1.63205508
194Hypoplasia of the capital femoral epiphysis (HP:0003090)1.63021293
195Back pain (HP:0003418)1.61390918
196Mildly elevated creatine phosphokinase (HP:0008180)1.61008205
197Increased connective tissue (HP:0009025)1.60859565
198Midface retrusion (HP:0011800)1.60012155
199Arnold-Chiari malformation (HP:0002308)1.59912694
200Type 1 muscle fiber predominance (HP:0003803)1.58420118

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK4.70356187
2CDK123.62387185
3EEF2K3.41352412
4TRIB33.23314130
5PDGFRA3.13588444
6ICK3.08778512
7MET2.66456859
8PRPF4B2.64016739
9MST1R2.55081299
10LATS22.46231877
11LATS12.41670988
12STK392.35558164
13IRAK32.34256552
14OXSR12.30412706
15EPHA22.19493554
16EPHA42.15253017
17PTK22.12868407
18BCR2.10522956
19ZAK2.07413217
20AKT32.03750600
21SMG11.93979303
22SGK4941.93715283
23SGK2231.93715283
24NTRK31.92611337
25PHKG21.89326633
26PHKG11.89326633
27NEK61.88792212
28PLK21.81670297
29SIK11.72343665
30FLT31.66284322
31SCYL21.64035399
32PKN11.63931487
33ERBB41.63167612
34CDK81.60812393
35PAK41.57333526
36PAK21.56835232
37SGK21.56800195
38MTOR1.56690449
39TSSK61.55718522
40MINK11.51359848
41OBSCN1.51033696
42MAP3K141.48886739
43PNCK1.45797494
44PAK61.43052766
45MAP3K41.42694807
46PINK11.42004659
47GRK71.37662175
48TNIK1.37356959
49PKN21.37063089
50SIK31.34526643
51TTK1.33654097
52ARAF1.32634065
53NEK91.30979900
54BRD41.30808881
55NTRK21.29503829
56MAP2K71.27036082
57FGFR41.21517892
58ROCK21.18276608
59MYLK1.13732046
60LMTK21.13704397
61CLK11.10872482
62CAMK2D1.10003481
63NEK21.09685799
64FGFR21.06298805
65DAPK21.05093205
66CAMK2A1.04529986
67CAMK2B1.04051065
68TRPM71.03920421
69RIPK11.03292338
70EPHB21.00649213
71PBK0.99576187
72SGK30.99160011
73BUB10.97767715
74MAP3K130.97662509
75MAP3K120.97652134
76PAK30.96782683
77NEK10.94249296
78PRKCE0.93885602
79EIF2AK10.93096307
80MAPK150.91583473
81PIK3CG0.90869381
82MAPK130.90211251
83PDGFRB0.89700263
84CDK190.89037816
85DDR20.86942816
86BMPR20.86758290
87CAMK1G0.86534190
88CDK70.86145809
89PRKCH0.85835914
90CHEK20.84876077
91FES0.84173516
92LIMK10.84047467
93UHMK10.83615901
94WNK10.83544876
95SRPK10.79662182
96MOS0.79189655
97MAPKAPK30.79164383
98MAPK110.78764906
99CDK50.78578163
100FGFR10.77345946
101MARK10.77136813
102SGK10.76140559
103CAMK2G0.75545037
104NTRK10.75276264
105PRKCG0.75162881
106MELK0.74851949
107KSR20.74253505
108RPS6KB20.73013693
109MAP3K80.72690447
110MKNK20.72621283
111CHEK10.71241380
112STK380.70921493
113INSRR0.69138546
114BRSK10.68746782
115PLK30.67582908
116MUSK0.66876276
117TTN0.65916298
118EIF2AK20.65692289
119GRK50.63889558
120PRKCQ0.63883344
121PIM20.62067251
122BRSK20.61273734
123CDK90.61135816
124VRK10.61106141
125ADRBK20.59705213
126MAPK70.59671173
127PRKACB0.59285546
128DAPK30.58755223
129TIE10.56565912
130STK38L0.56012968
131AURKB0.55984411
132BRAF0.55373752
133PRKG10.54886801
134CDC42BPA0.54629052
135STK30.54328559
136ERN10.54190087
137MAPK100.53107832
138STK100.52992469
139AKT20.52686877
140KSR10.52429558
141CDC70.51539511
142MAP2K40.49773569
143ERBB30.49300091
144IRAK20.49004820
145PRKACA0.48367817
146PIK3CA0.48337895
147BMX0.48179861
148RPS6KA30.48045932
149CDK180.47909418
150MAPKAPK50.47611780
151WEE10.47532269
152CDK60.45304987
153ROCK10.44923644
154CDK10.44180716
155ATR0.42426816
156CDK140.41665023
157MAP3K90.41520720
158RET0.41188854
159WNK40.40534628
160RPS6KA60.39049125
161CAMK10.39010920
162CAMK1D0.38604706
163RAF10.38453540
164TGFBR20.37566092
165RPS6KL10.37359533
166RPS6KC10.37359533
167EIF2AK30.37339949
168MAP2K10.36936085
169CDK150.36919188
170TLK10.36909501
171RPS6KA20.36379041
172CSNK1A10.36301457
173MAP3K100.35682962
174CDK40.35414040
175PRKCA0.35367218
176ATM0.33695225
177CDK20.32325536
178PLK10.32306691
179TYRO30.32161873
180PRKAA10.31189572

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.46033451
2Synaptic vesicle cycle_Homo sapiens_hsa047213.14762955
3ECM-receptor interaction_Homo sapiens_hsa045122.82748441
4Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.77431009
5GABAergic synapse_Homo sapiens_hsa047272.72706509
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.56611023
7Morphine addiction_Homo sapiens_hsa050322.50999006
8Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.44201776
9Collecting duct acid secretion_Homo sapiens_hsa049662.43526856
10Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.31161844
11Fatty acid elongation_Homo sapiens_hsa000622.29360831
12Circadian entrainment_Homo sapiens_hsa047132.22720494
13Oxidative phosphorylation_Homo sapiens_hsa001902.03319736
14N-Glycan biosynthesis_Homo sapiens_hsa005102.03278195
15Cardiac muscle contraction_Homo sapiens_hsa042601.98911288
16Focal adhesion_Homo sapiens_hsa045101.98367655
17Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.93228229
18Central carbon metabolism in cancer_Homo sapiens_hsa052301.83021597
19Serotonergic synapse_Homo sapiens_hsa047261.80003486
20Glutamatergic synapse_Homo sapiens_hsa047241.77687456
21Vitamin B6 metabolism_Homo sapiens_hsa007501.77566080
22Small cell lung cancer_Homo sapiens_hsa052221.77560946
23Lysine degradation_Homo sapiens_hsa003101.77230309
24Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.76051693
25Bladder cancer_Homo sapiens_hsa052191.72910489
26Dilated cardiomyopathy_Homo sapiens_hsa054141.70102870
27Olfactory transduction_Homo sapiens_hsa047401.68919201
28Glycosaminoglycan degradation_Homo sapiens_hsa005311.65108351
29Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.62424670
30Adherens junction_Homo sapiens_hsa045201.60455740
31Proteoglycans in cancer_Homo sapiens_hsa052051.59115768
32Calcium signaling pathway_Homo sapiens_hsa040201.57541341
33Vibrio cholerae infection_Homo sapiens_hsa051101.52527947
34Insulin secretion_Homo sapiens_hsa049111.51168630
35Taste transduction_Homo sapiens_hsa047421.50427659
36Salivary secretion_Homo sapiens_hsa049701.48874353
37Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.48451585
38MicroRNAs in cancer_Homo sapiens_hsa052061.48024070
39Rheumatoid arthritis_Homo sapiens_hsa053231.44346492
40Parkinsons disease_Homo sapiens_hsa050121.43337010
41Chronic myeloid leukemia_Homo sapiens_hsa052201.42693914
42Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.41317273
43Phototransduction_Homo sapiens_hsa047441.40934371
44Renin secretion_Homo sapiens_hsa049241.39964305
45Steroid biosynthesis_Homo sapiens_hsa001001.37892601
46Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.36876833
47Alzheimers disease_Homo sapiens_hsa050101.36751611
48Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.36333512
49Biosynthesis of amino acids_Homo sapiens_hsa012301.34866639
50Hippo signaling pathway_Homo sapiens_hsa043901.34315598
51Cholinergic synapse_Homo sapiens_hsa047251.30027724
52Cell cycle_Homo sapiens_hsa041101.29172791
53One carbon pool by folate_Homo sapiens_hsa006701.28476098
54Long-term depression_Homo sapiens_hsa047301.27317459
55Dopaminergic synapse_Homo sapiens_hsa047281.25093025
56Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.24485495
57Selenocompound metabolism_Homo sapiens_hsa004501.23874594
58Amphetamine addiction_Homo sapiens_hsa050311.23700894
59Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.22534014
60Axon guidance_Homo sapiens_hsa043601.22207635
61Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.20319893
62AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.19458847
63Oxytocin signaling pathway_Homo sapiens_hsa049211.18878301
64Thyroid cancer_Homo sapiens_hsa052161.17963324
65Pentose phosphate pathway_Homo sapiens_hsa000301.16075623
66SNARE interactions in vesicular transport_Homo sapiens_hsa041301.15609088
67Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.15292815
68Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.12247355
69TGF-beta signaling pathway_Homo sapiens_hsa043501.09216781
70Long-term potentiation_Homo sapiens_hsa047201.09140353
71DNA replication_Homo sapiens_hsa030301.08000905
72Gastric acid secretion_Homo sapiens_hsa049711.07601930
73Thyroid hormone signaling pathway_Homo sapiens_hsa049191.06891149
74Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.06599372
75Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.06377968
76Cocaine addiction_Homo sapiens_hsa050301.02189593
77Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.01776397
78cAMP signaling pathway_Homo sapiens_hsa040241.01758281
79Phagosome_Homo sapiens_hsa041451.00623592
80Ether lipid metabolism_Homo sapiens_hsa005651.00395841
81Vascular smooth muscle contraction_Homo sapiens_hsa042701.00302523
82RNA transport_Homo sapiens_hsa030131.00252893
83Lysosome_Homo sapiens_hsa041420.96022716
84Huntingtons disease_Homo sapiens_hsa050160.93805498
85Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.93642080
86Nucleotide excision repair_Homo sapiens_hsa034200.93600612
87Pancreatic cancer_Homo sapiens_hsa052120.93552422
88Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.90559814
89PI3K-Akt signaling pathway_Homo sapiens_hsa041510.90344853
90Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.89390574
91Basal cell carcinoma_Homo sapiens_hsa052170.88979706
92Sphingolipid metabolism_Homo sapiens_hsa006000.88546281
93Endometrial cancer_Homo sapiens_hsa052130.88317778
94ErbB signaling pathway_Homo sapiens_hsa040120.88183932
95Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.87958800
96cGMP-PKG signaling pathway_Homo sapiens_hsa040220.87685670
97Prostate cancer_Homo sapiens_hsa052150.86243796
98mRNA surveillance pathway_Homo sapiens_hsa030150.85643837
99p53 signaling pathway_Homo sapiens_hsa041150.85440935
100Fatty acid biosynthesis_Homo sapiens_hsa000610.84564027
101Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.84035857
102Non-small cell lung cancer_Homo sapiens_hsa052230.83818554
103Gap junction_Homo sapiens_hsa045400.83178209
104Type II diabetes mellitus_Homo sapiens_hsa049300.82666413
105Thyroid hormone synthesis_Homo sapiens_hsa049180.82070790
106Protein digestion and absorption_Homo sapiens_hsa049740.81743992
107Phosphatidylinositol signaling system_Homo sapiens_hsa040700.81127022
108Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.79803678
109Aldosterone synthesis and secretion_Homo sapiens_hsa049250.79160758
110Renal cell carcinoma_Homo sapiens_hsa052110.79148233
111Pathways in cancer_Homo sapiens_hsa052000.76132193
112Fructose and mannose metabolism_Homo sapiens_hsa000510.75781363
113Galactose metabolism_Homo sapiens_hsa000520.75771509
114Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.75431359
115Amoebiasis_Homo sapiens_hsa051460.74562070
116Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.74349356
117mTOR signaling pathway_Homo sapiens_hsa041500.73461980
118Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.73319134
119Fatty acid metabolism_Homo sapiens_hsa012120.71323554
120Carbon metabolism_Homo sapiens_hsa012000.70331309
121Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.67756712
122Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.66737363
123Hedgehog signaling pathway_Homo sapiens_hsa043400.66115191
124Glycerophospholipid metabolism_Homo sapiens_hsa005640.65033482
125Dorso-ventral axis formation_Homo sapiens_hsa043200.64074912
126Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.63811967
127AMPK signaling pathway_Homo sapiens_hsa041520.63588747
128Spliceosome_Homo sapiens_hsa030400.63220677
129Tight junction_Homo sapiens_hsa045300.62587071
130Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.62169320
131Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.59632090
132Ras signaling pathway_Homo sapiens_hsa040140.58948467
133Non-homologous end-joining_Homo sapiens_hsa034500.58130552
134Wnt signaling pathway_Homo sapiens_hsa043100.58122735
135Neurotrophin signaling pathway_Homo sapiens_hsa047220.57873200
136Circadian rhythm_Homo sapiens_hsa047100.57691514
137Regulation of autophagy_Homo sapiens_hsa041400.57290999
138Notch signaling pathway_Homo sapiens_hsa043300.56381609
139Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.56176143
140Longevity regulating pathway - mammal_Homo sapiens_hsa042110.56063638
141MAPK signaling pathway_Homo sapiens_hsa040100.54996453
142Phospholipase D signaling pathway_Homo sapiens_hsa040720.54621551
143Melanoma_Homo sapiens_hsa052180.54301993
144Insulin signaling pathway_Homo sapiens_hsa049100.53903884
145Inositol phosphate metabolism_Homo sapiens_hsa005620.53682082
146Colorectal cancer_Homo sapiens_hsa052100.53077287
147Glucagon signaling pathway_Homo sapiens_hsa049220.52158492
148Prion diseases_Homo sapiens_hsa050200.50541910
149Viral carcinogenesis_Homo sapiens_hsa052030.48860656
150VEGF signaling pathway_Homo sapiens_hsa043700.47994229
151GnRH signaling pathway_Homo sapiens_hsa049120.47506827
152Basal transcription factors_Homo sapiens_hsa030220.47208057
153Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.46940369
154Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.46821135
155HIF-1 signaling pathway_Homo sapiens_hsa040660.45953219
156Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.45892420
157Mineral absorption_Homo sapiens_hsa049780.44317114
158Butanoate metabolism_Homo sapiens_hsa006500.43301474
159Melanogenesis_Homo sapiens_hsa049160.42172840
160Alcoholism_Homo sapiens_hsa050340.39712895
161Type I diabetes mellitus_Homo sapiens_hsa049400.36910455
1622-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.36532895
163Sphingolipid signaling pathway_Homo sapiens_hsa040710.33383556
164Rap1 signaling pathway_Homo sapiens_hsa040150.30503630
165Regulation of actin cytoskeleton_Homo sapiens_hsa048100.28967946
166Estrogen signaling pathway_Homo sapiens_hsa049150.28841446
167Glioma_Homo sapiens_hsa052140.28203865
168Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.26906038
169Other glycan degradation_Homo sapiens_hsa005110.26405035
170Glycerolipid metabolism_Homo sapiens_hsa005610.26199034
171Propanoate metabolism_Homo sapiens_hsa006400.25368210
172Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.24942352

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