CHRNE

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: Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1acrosome assembly (GO:0001675)9.91907143
2plasma membrane fusion (GO:0045026)9.91797347
3acrosome reaction (GO:0007340)9.64205088
4cell-cell recognition (GO:0009988)9.20054803
5cilium or flagellum-dependent cell motility (GO:0001539)8.97290753
6reproduction (GO:0000003)8.69342018
7binding of sperm to zona pellucida (GO:0007339)8.48849893
8motile cilium assembly (GO:0044458)8.29282857
9axonemal dynein complex assembly (GO:0070286)7.96428839
10spermatid development (GO:0007286)7.70877898
11epithelial cilium movement (GO:0003351)7.55002323
12regulation of cilium movement (GO:0003352)6.46256896
13single fertilization (GO:0007338)6.38805784
14negative regulation of inclusion body assembly (GO:0090084)6.07220789
15synaptonemal complex organization (GO:0070193)6.01844396
16sperm capacitation (GO:0048240)6.01293341
17cilium movement (GO:0003341)5.96601736
18piRNA metabolic process (GO:0034587)5.87359755
19synaptonemal complex assembly (GO:0007130)5.81534358
20male meiosis (GO:0007140)5.80418449
21epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)5.76767450
22viral transcription (GO:0019083)5.57555085
23microtubule depolymerization (GO:0007019)5.51079107
24spermatogenesis (GO:0007283)5.35721137
25male gamete generation (GO:0048232)5.33494866
26translational termination (GO:0006415)5.26613935
27organic cation transport (GO:0015695)5.20244015
28fertilization (GO:0009566)5.17975637
29mRNA transcription from RNA polymerase II promoter (GO:0042789)5.09395242
30behavioral response to nicotine (GO:0035095)4.94878280
31regulation of inclusion body assembly (GO:0090083)4.93870674
32gamete generation (GO:0007276)4.92099155
33establishment of protein localization to mitochondrial membrane (GO:0090151)4.75215907
34muscle filament sliding (GO:0030049)4.65451451
35actin-myosin filament sliding (GO:0033275)4.65451451
36ribosomal small subunit biogenesis (GO:0042274)4.53934521
37spermatid nucleus differentiation (GO:0007289)4.38242296
38regulation of skeletal muscle contraction (GO:0014819)4.37440409
39calcium ion-dependent exocytosis (GO:0017156)4.31770177
40cellular process involved in reproduction in multicellular organism (GO:0022412)4.31239844
41translational elongation (GO:0006414)4.28873317
42skeletal muscle contraction (GO:0003009)4.25196494
43ATP synthesis coupled proton transport (GO:0015986)4.21052850
44energy coupled proton transport, down electrochemical gradient (GO:0015985)4.21052850
45male meiosis I (GO:0007141)4.17887367
46cell recognition (GO:0008037)4.14563671
47germ cell development (GO:0007281)4.10328614
48axon ensheathment in central nervous system (GO:0032291)4.09878640
49central nervous system myelination (GO:0022010)4.09878640
50monoubiquitinated protein deubiquitination (GO:0035520)4.08473394
51amino-acid betaine transport (GO:0015838)4.07656623
52carnitine transport (GO:0015879)4.07656623
53carnitine transmembrane transport (GO:1902603)4.07051121
54endoderm formation (GO:0001706)4.06812572
55glycerol ether metabolic process (GO:0006662)4.06465482
56cotranslational protein targeting to membrane (GO:0006613)4.01150712
57protein targeting to ER (GO:0045047)4.00252765
58SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.98652567
59cellular protein complex disassembly (GO:0043624)3.97389151
60regulation of Wnt signaling pathway involved in heart development (GO:0003307)3.95915359
61chromosome condensation (GO:0030261)3.95825297
62viral life cycle (GO:0019058)3.93110857
63morphogenesis of an endothelium (GO:0003159)3.91043216
64endothelial tube morphogenesis (GO:0061154)3.91043216
65regulation of transcription involved in cell fate commitment (GO:0060850)3.89059918
66meiotic nuclear division (GO:0007126)3.85803140
67sarcoplasmic reticulum calcium ion transport (GO:0070296)3.83961904
68mRNA transcription (GO:0009299)3.83350601
69multicellular organismal reproductive process (GO:0048609)3.82921562
70establishment of protein localization to endoplasmic reticulum (GO:0072599)3.82620364
71mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.81055740
72DNA packaging (GO:0006323)3.79222544
73actin-mediated cell contraction (GO:0070252)3.74784095
74chromosome organization involved in meiosis (GO:0070192)3.73686849
75ether metabolic process (GO:0018904)3.71186932
76protein localization to endoplasmic reticulum (GO:0070972)3.71046602
77neurofilament cytoskeleton organization (GO:0060052)3.69686582
78seminiferous tubule development (GO:0072520)3.68693483
79DNA methylation involved in gamete generation (GO:0043046)3.64066321
80ribosomal small subunit assembly (GO:0000028)3.62498198
81regulation of microtubule-based movement (GO:0060632)3.61363677
82meiosis I (GO:0007127)3.55352296
83negative regulation of response to food (GO:0032096)3.54225641
84negative regulation of appetite (GO:0032099)3.54225641
85mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.49971495
86chaperone-mediated protein transport (GO:0072321)3.49602440
87skeletal muscle adaptation (GO:0043501)3.48813441
88protein K11-linked deubiquitination (GO:0035871)3.48510416
89microtubule severing (GO:0051013)3.46005208
90nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.45526621
91membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.41334072
92ventricular system development (GO:0021591)3.40376071
93regulation of mesoderm development (GO:2000380)3.29356881
94substrate-independent telencephalic tangential migration (GO:0021826)3.26369487
95substrate-independent telencephalic tangential interneuron migration (GO:0021843)3.26369487
96protein complex disassembly (GO:0043241)3.24398652
97chaperone-mediated protein complex assembly (GO:0051131)3.23400172
98cellular hyperosmotic response (GO:0071474)3.20309757
99single strand break repair (GO:0000012)3.19616606
100positive regulation of skeletal muscle tissue development (GO:0048643)3.18551267
101maturation of SSU-rRNA (GO:0030490)3.17469546
102microtubule polymerization or depolymerization (GO:0031109)3.16326019
103negative regulation of skeletal muscle tissue development (GO:0048642)3.16103398
104sexual reproduction (GO:0019953)3.15822797
105respiratory electron transport chain (GO:0022904)3.13093347
106meiotic cell cycle (GO:0051321)3.13079971
107electron transport chain (GO:0022900)3.11916433
108embryonic heart tube development (GO:0035050)3.11470056
109cellular response to ATP (GO:0071318)3.11186787
110heart trabecula morphogenesis (GO:0061384)3.10563471
111ventricular trabecula myocardium morphogenesis (GO:0003222)3.09962679
112interferon-gamma secretion (GO:0072643)3.08365265
113multicellular organismal development (GO:0007275)3.07929849
114macromolecular complex disassembly (GO:0032984)3.06074230
115renal system development (GO:0072001)3.06045683
116regulation of synapse structural plasticity (GO:0051823)3.01714227
117pattern specification involved in kidney development (GO:0061004)2.98988272
118negative regulation of cell fate commitment (GO:0010454)2.97526921
119quaternary ammonium group transport (GO:0015697)2.95928229
120activated T cell proliferation (GO:0050798)2.95182937
121histone H4-K12 acetylation (GO:0043983)2.94433092
122creatine metabolic process (GO:0006600)2.94367763
123protein complex biogenesis (GO:0070271)2.93649761
124mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.91851834
125mitochondrial respiratory chain complex I assembly (GO:0032981)2.91851834
126NADH dehydrogenase complex assembly (GO:0010257)2.91851834
127cellular carbohydrate catabolic process (GO:0044275)2.89042089
128sequestering of actin monomers (GO:0042989)2.86017617
129peptidyl-threonine dephosphorylation (GO:0035970)2.85502174
130cellular response to interferon-beta (GO:0035458)2.84954379
131positive regulation of gastrulation (GO:2000543)2.84317118
132skeletal muscle fiber development (GO:0048741)2.83489071
133regulation of spindle checkpoint (GO:0090231)2.83060526
134carnitine shuttle (GO:0006853)2.82421463
135glycolytic process (GO:0006096)2.80739064
136polyol catabolic process (GO:0046174)2.79424397
137nucleus organization (GO:0006997)2.76848627
138protein neddylation (GO:0045116)2.73086291
139alditol metabolic process (GO:0019400)2.72577272
140mitotic sister chromatid cohesion (GO:0007064)2.70936515
141positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.70847690
142polyamine biosynthetic process (GO:0006596)2.69612940
143negative regulation of necroptotic process (GO:0060546)2.69561315
144negative regulation of cell fate specification (GO:0009996)2.69146659
145presynaptic membrane organization (GO:0097090)2.69006472
146translational initiation (GO:0006413)2.64355915
147negative regulation of erythrocyte differentiation (GO:0045647)2.64108199
148centriole assembly (GO:0098534)2.62805941
149protein targeting to membrane (GO:0006612)2.62258273
150regulation of response to food (GO:0032095)2.60941854
151cellular response to arsenic-containing substance (GO:0071243)2.60137046
152positive regulation of action potential (GO:0045760)2.59961048
153actin filament-based movement (GO:0030048)2.59942214
154regulation of membrane repolarization (GO:0060306)2.58140999
155protein refolding (GO:0042026)2.57306821
156myoblast migration (GO:0051451)2.54777841
157endothelial cell differentiation (GO:0045446)2.54680258
158oxygen transport (GO:0015671)2.53474694
159microglial cell activation (GO:0001774)2.51129760
160parturition (GO:0007567)2.48631871
161sister chromatid cohesion (GO:0007062)2.45902581
162presynaptic membrane assembly (GO:0097105)2.45475985
163positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.45429689
164positive regulation of potassium ion transmembrane transport (GO:1901381)2.44591572
165forebrain neuron differentiation (GO:0021879)2.44337830
166RNA destabilization (GO:0050779)2.43286976
167membrane repolarization (GO:0086009)2.43195005
168centriole replication (GO:0007099)2.42667866
169left/right pattern formation (GO:0060972)2.42474173
170mitochondrion degradation (GO:0000422)2.42318588
171mitochondrial respiratory chain complex assembly (GO:0033108)2.41318747
172regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.40579282
173cell proliferation in forebrain (GO:0021846)2.40175120
174hydrogen ion transmembrane transport (GO:1902600)2.39762486
175glycerol metabolic process (GO:0006071)2.39617321
176regulation of hydrogen peroxide metabolic process (GO:0010310)2.39124788
177cellular ketone body metabolic process (GO:0046950)2.38067748
178positive thymic T cell selection (GO:0045059)2.36747918
179nonmotile primary cilium assembly (GO:0035058)2.35619243
180embryonic body morphogenesis (GO:0010172)2.34319675
181ATP biosynthetic process (GO:0006754)2.33456857
182negative regulation of glial cell differentiation (GO:0045686)2.33082105
183cell migration involved in gastrulation (GO:0042074)2.32957893
184postsynaptic membrane organization (GO:0001941)2.31584304
185cell-cell junction maintenance (GO:0045217)2.29455024
186cell wall macromolecule catabolic process (GO:0016998)13.9656474
187cell wall macromolecule metabolic process (GO:0044036)13.9656474
188fusion of sperm to egg plasma membrane (GO:0007342)13.0165641
189sperm motility (GO:0030317)10.6559729
190multicellular organism reproduction (GO:0032504)10.2749036
191sperm-egg recognition (GO:0035036)10.0234771

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse8.61837590
2TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.77585875
3TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.50415204
4BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse4.26395362
5STAT6_21828071_ChIP-Seq_BEAS2B_Human3.23549227
6JARID2_20064375_ChIP-Seq_MESCs_Mouse2.59661792
7VDR_22108803_ChIP-Seq_LS180_Human2.57947890
8EZH2_27304074_Chip-Seq_ESCs_Mouse2.56806473
9SUZ12_27294783_Chip-Seq_ESCs_Mouse2.52331619
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.49422554
11FLI1_27457419_Chip-Seq_LIVER_Mouse2.45333275
12PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.43115087
13EZH2_27294783_Chip-Seq_ESCs_Mouse2.42767090
14CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.42437430
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.28320529
16REST_21632747_ChIP-Seq_MESCs_Mouse2.28008431
17IKZF1_21737484_ChIP-ChIP_HCT116_Human2.21689311
18NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.18828262
19BMI1_23680149_ChIP-Seq_NPCS_Mouse2.17942076
20EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human2.17356231
21CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.08315820
22PCGF2_27294783_Chip-Seq_ESCs_Mouse2.06678210
23SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.04359845
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.01509847
25RNF2_18974828_ChIP-Seq_MESCs_Mouse2.01071749
26EZH2_18974828_ChIP-Seq_MESCs_Mouse2.01071749
27E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.98873652
28KAP1_22055183_ChIP-Seq_ESCs_Mouse1.98382092
29PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.96071294
30SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.94968474
31SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.91481450
32SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.89596626
33SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.87632254
34GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.80013100
35RNF2_27304074_Chip-Seq_NSC_Mouse1.73856372
36TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.72710306
37REST_18959480_ChIP-ChIP_MESCs_Mouse1.71224467
38SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.65865700
39RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.65642389
40DROSHA_22980978_ChIP-Seq_HELA_Human1.63576666
41* TP53_20018659_ChIP-ChIP_R1E_Mouse1.63373896
42SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.61964415
43RING1B_27294783_Chip-Seq_ESCs_Mouse1.61587198
44ERG_21242973_ChIP-ChIP_JURKAT_Human1.61285197
45STAT1_17558387_ChIP-Seq_HELA_Human1.60539492
46ELK4_26923725_Chip-Seq_MESODERM_Mouse1.59963313
47MTF2_20144788_ChIP-Seq_MESCs_Mouse1.57200857
48LUZP1_20508642_ChIP-Seq_ESCs_Mouse1.57181565
49CRX_20693478_ChIP-Seq_RETINA_Mouse1.57157868
50FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.55172939
51GATA3_21867929_ChIP-Seq_CD8_Mouse1.52717835
52SUZ12_27294783_Chip-Seq_NPCs_Mouse1.50976975
53NFE2_27457419_Chip-Seq_LIVER_Mouse1.48195064
54WDR5_24793694_ChIP-Seq_LNCAP_Human1.47699684
55KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.47609376
56RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.47309717
57CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.43130258
58CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.40183712
59CTCF_27219007_Chip-Seq_Bcells_Human1.37099799
60ZNF274_21170338_ChIP-Seq_K562_Hela1.36727394
61RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.36607155
62PCGF2_27294783_Chip-Seq_NPCs_Mouse1.36116899
63CTBP1_25329375_ChIP-Seq_LNCAP_Human1.35944096
64KDM2B_26808549_Chip-Seq_REH_Human1.33729839
65PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.33468948
66P53_21459846_ChIP-Seq_SAOS-2_Human1.33439284
67FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.31445175
68POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.29155940
69TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.29155940
70ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.28944879
71GATA3_21867929_ChIP-Seq_TH1_Mouse1.28046508
72* PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.27981583
73KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.26395112
74CBP_20019798_ChIP-Seq_JUKART_Human1.26271961
75IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.26271961
76EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.25750390
77SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.25371319
78MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.24427714
79FLI1_21867929_ChIP-Seq_TH2_Mouse1.23335621
80CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.23217632
81GATA1_19941827_ChIP-Seq_MEL86_Mouse1.22231054
82OCT4_21477851_ChIP-Seq_ESCs_Mouse1.22131820
83SOX2_22085726_ChIP-Seq_NPCs_Mouse1.20869076
84TAL1_26923725_Chip-Seq_HPCs_Mouse1.20354168
85RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.20307460
86EZH2_27294783_Chip-Seq_NPCs_Mouse1.18931652
87GBX2_23144817_ChIP-Seq_PC3_Human1.17189529
88MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.17164771
89SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.16054036
90* FLI1_21867929_ChIP-Seq_CD8_Mouse1.15199233
91* CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse1.14543235
92GF1_26923725_Chip-Seq_HPCs_Mouse1.14133226
93THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.11986381
94FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.10959976
95GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10660421
96TAF2_19829295_ChIP-Seq_ESCs_Human1.10123202
97RING1B_27294783_Chip-Seq_NPCs_Mouse1.09930359
98* SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09727669
99NFYB_21822215_ChIP-Seq_K562_Human1.09640026
100STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.09430321
101SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.08464387
102PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.08334164
103FUS_26573619_Chip-Seq_HEK293_Human1.07158270
104GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.06860201
105RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.06504136
106ETV2_25802403_ChIP-Seq_MESCs_Mouse1.06151043
107GATA6_21074721_ChIP-Seq_CACO-2_Human1.05712913
108LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.05388419
109OCT1_27270436_Chip-Seq_PROSTATE_Human1.02011044
110TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.01795126
111GATA1_26923725_Chip-Seq_HPCs_Mouse1.01498397
112NANOG_20526341_ChIP-Seq_ESCs_Human1.01473194
113CTCF_26484167_Chip-Seq_Bcells_Mouse1.01185138
114MYC_19829295_ChIP-Seq_ESCs_Human1.00273764
115OCT4_18555785_Chip-Seq_ESCs_Mouse1.00155228
116YY1_22570637_ChIP-Seq_MALME-3M_Human0.99928448
117ERA_21632823_ChIP-Seq_H3396_Human0.99657474
118* RXRA_24833708_ChIP-Seq_LIVER_Mouse0.99129616
119PHF8_20622853_ChIP-Seq_HELA_Human0.98988939
120ER_23166858_ChIP-Seq_MCF-7_Human0.98629100
121* PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.98080633
122CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.98062507
123JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.96673148
124* RARA_24833708_ChIP-Seq_LIVER_Mouse0.96380660
125SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.96287082
126BP1_19119308_ChIP-ChIP_Hs578T_Human0.95989232
127* BCOR_27268052_Chip-Seq_Bcells_Human0.95019102
128GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.94990624
129ETV1_20927104_ChIP-Seq_GIST48_Human0.94869952
130MYB_26560356_Chip-Seq_TH2_Human0.94853369
131EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.94826419
132RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.94780397
133OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.94618786
134ELF1_20517297_ChIP-Seq_JURKAT_Human0.94593005
135MYC_27129775_Chip-Seq_CORNEA_Mouse0.94530007
136STAT1_20625510_ChIP-Seq_HELA_Human0.94198873
137NFIB_24661679_ChIP-Seq_LUNG_Mouse0.94084184
138AUTS2_25519132_ChIP-Seq_293T-REX_Human0.93956530
139GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.93888388
140CTCF_20526341_ChIP-Seq_ESCs_Human0.93575727
141SPI1_20517297_ChIP-Seq_HL60_Human0.93554538
142TBL1_22424771_ChIP-Seq_293T_Human0.91209967
143TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.90761692
144CBX2_27304074_Chip-Seq_ESCs_Mouse0.90325891
145EZH2_22144423_ChIP-Seq_EOC_Human0.90320747
146ZNF263_19887448_ChIP-Seq_K562_Human0.90205797
147BCL6_27268052_Chip-Seq_Bcells_Human0.89761041
148GATA3_21878914_ChIP-Seq_MCF-7_Human0.89750560
149LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.89220119
150SPI1_26923725_Chip-Seq_HPCs_Mouse0.89051290
151FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.88934427
152TDRD3_21172665_ChIP-Seq_MCF-7_Human0.88544929
153CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88532344
154MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.88410222
155CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.88154999
156NANOG_18555785_Chip-Seq_ESCs_Mouse0.87604149
157TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87101878
158RUNX1_26923725_Chip-Seq_HPCs_Mouse0.86901210
159E2F1_20622854_ChIP-Seq_HELA_Human0.86247633
160EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.85940763
161RUNX_20019798_ChIP-Seq_JUKART_Human0.85445498
162SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85430833
163ESET_19884257_ChIP-Seq_ESCs_Mouse0.85352141
164RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.85259612
165KDM2B_26808549_Chip-Seq_K562_Human0.84801164
166LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.84017218
167ZFP57_27257070_Chip-Seq_ESCs_Mouse0.83508634
168MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.82862870
169* OCT4_19829295_ChIP-Seq_ESCs_Human0.82634890
170* P68_20966046_ChIP-Seq_HELA_Human0.80605375
171LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79881347
172CTBP2_25329375_ChIP-Seq_LNCAP_Human0.78916669
173UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.76586793
174SMAD3_21741376_ChIP-Seq_ESCs_Human0.75832981
175TOP2B_26459242_ChIP-Seq_MCF-7_Human0.75596596
176POU5F1_16153702_ChIP-ChIP_HESCs_Human0.74479514
177SOX2_21211035_ChIP-Seq_LN229_Human0.74266809
178EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.74064438
179* KLF4_19829295_ChIP-Seq_ESCs_Human0.74001504
180FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.73510652
181PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.73335763
182SA1_27219007_Chip-Seq_ERYTHROID_Human0.72296508
183SA1_27219007_Chip-Seq_Bcells_Human0.72232119
184SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.71840201
185RARB_27405468_Chip-Seq_BRAIN_Mouse0.71192990
186* NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.71070202

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio5.00816286
2MP0009379_abnormal_foot_pigmentation4.50806034
3MP0003646_muscle_fatigue4.28313933
4MP0003698_abnormal_male_reproductive4.17259017
5MP0001929_abnormal_gametogenesis3.90643787
6MP0000749_muscle_degeneration3.59277628
7MP0005084_abnormal_gallbladder_morpholo3.29620571
8MP0002928_abnormal_bile_duct2.84557611
9MP0000747_muscle_weakness2.78839145
10MP0003136_yellow_coat_color2.75946068
11MP0000751_myopathy2.69087721
12MP0008877_abnormal_DNA_methylation2.67457246
13MP0003878_abnormal_ear_physiology2.56758272
14MP0005377_hearing/vestibular/ear_phenot2.56758272
15MP0004885_abnormal_endolymph2.53075600
16MP0002106_abnormal_muscle_physiology2.50441140
17MP0005670_abnormal_white_adipose2.47027397
18MP0004036_abnormal_muscle_relaxation2.36980355
19MP0003787_abnormal_imprinting2.34618905
20* MP0002269_muscular_atrophy2.33774214
21MP0004142_abnormal_muscle_tone2.31892469
22MP0002210_abnormal_sex_determination2.31038383
23MP0002161_abnormal_fertility/fecundity2.22994262
24MP0001968_abnormal_touch/_nociception2.17766274
25MP0004130_abnormal_muscle_cell2.17086597
26MP0006292_abnormal_olfactory_placode2.13810757
27MP0005423_abnormal_somatic_nervous2.11478593
28* MP0000759_abnormal_skeletal_muscle2.10333474
29MP0005410_abnormal_fertilization11.3937488
30MP0004087_abnormal_muscle_fiber1.96489113
31MP0001145_abnormal_male_reproductive1.95429070
32MP0003880_abnormal_central_pattern1.94825523
33MP0006276_abnormal_autonomic_nervous1.92810790
34MP0004742_abnormal_vestibular_system1.91907491
35MP0005369_muscle_phenotype1.90951010
36MP0002272_abnormal_nervous_system1.88872720
37MP0003879_abnormal_hair_cell1.88613405
38MP0002735_abnormal_chemical_nociception1.87197579
39MP0009745_abnormal_behavioral_response1.87115534
40MP0002277_abnormal_respiratory_mucosa1.83727749
41MP0002009_preneoplasia1.80698678
42MP0001905_abnormal_dopamine_level1.79427020
43MP0001440_abnormal_grooming_behavior1.74891802
44MP0009046_muscle_twitch1.73382507
45MP0000653_abnormal_sex_gland1.72746640
46MP0001986_abnormal_taste_sensitivity1.68549261
47MP0001188_hyperpigmentation1.65224591
48MP0005551_abnormal_eye_electrophysiolog1.65175816
49MP0000733_abnormal_muscle_development1.64271939
50MP0004133_heterotaxia1.64256150
51MP0000750_abnormal_muscle_regeneration1.63876245
52MP0002064_seizures1.62321349
53MP0001485_abnormal_pinna_reflex1.55702750
54MP0001486_abnormal_startle_reflex1.54751910
55MP0000343_altered_response_to1.53250826
56MP0003011_delayed_dark_adaptation1.51790054
57MP0003123_paternal_imprinting1.48421722
58MP0005666_abnormal_adipose_tissue1.47837271
59MP0004185_abnormal_adipocyte_glucose1.45946933
60MP0002971_abnormal_brown_adipose1.44270522
61MP0000685_abnormal_immune_system1.43936389
62MP0001970_abnormal_pain_threshold1.41288881
63MP0005646_abnormal_pituitary_gland1.40104394
64MP0002733_abnormal_thermal_nociception1.39080249
65MP0002163_abnormal_gland_morphology1.38260514
66* MP0003635_abnormal_synaptic_transmissio1.37793894
67MP0006036_abnormal_mitochondrial_physio1.37079252
68MP0002572_abnormal_emotion/affect_behav1.36377653
69MP0003950_abnormal_plasma_membrane1.36248240
70MP0002736_abnormal_nociception_after1.34919294
71MP0000778_abnormal_nervous_system1.33485629
72* MP0005620_abnormal_muscle_contractility1.32083987
73MP0002557_abnormal_social/conspecific_i1.31499898
74MP0002067_abnormal_sensory_capabilities1.27280351
75MP0002734_abnormal_mechanical_nocicepti1.26290323
76MP0000631_abnormal_neuroendocrine_gland1.21582872
77MP0002837_dystrophic_cardiac_calcinosis1.20063654
78MP0002638_abnormal_pupillary_reflex1.18213247
79MP0002138_abnormal_hepatobiliary_system1.17287105
80MP0005448_abnormal_energy_balance1.16604126
81MP0003763_abnormal_thymus_physiology1.12634836
82MP0002822_catalepsy1.11959793
83MP0002063_abnormal_learning/memory/cond1.11764053
84MP0001944_abnormal_pancreas_morphology1.11070153
85MP0000026_abnormal_inner_ear1.09722418
86MP0001661_extended_life_span1.09215158
87MP0000955_abnormal_spinal_cord1.07772608
88MP0004510_myositis1.07100321
89MP0003122_maternal_imprinting1.06823397
90MP0002132_abnormal_respiratory_system1.06482532
91MP0009764_decreased_sensitivity_to1.03006548
92MP0003303_peritoneal_inflammation1.02050767
93MP0001800_abnormal_humoral_immune1.01916395
94MP0003119_abnormal_digestive_system1.01703601
95MP0002234_abnormal_pharynx_morphology1.00691120
96MP0001963_abnormal_hearing_physiology0.99833439
97MP0004019_abnormal_vitamin_homeostasis0.99804714
98MP0003806_abnormal_nucleotide_metabolis0.98985309
99MP0001765_abnormal_ion_homeostasis0.95134886
100MP0003121_genomic_imprinting0.95090889
101MP0000230_abnormal_systemic_arterial0.94022936
102MP0001529_abnormal_vocalization0.93857929
103MP0008058_abnormal_DNA_repair0.93114736
104MP0001919_abnormal_reproductive_system0.90549990
105MP0002229_neurodegeneration0.90387899
106MP0008875_abnormal_xenobiotic_pharmacok0.86489382
107* MP0002752_abnormal_somatic_nervous0.86465490
108MP0008789_abnormal_olfactory_epithelium0.86403913
109* MP0002882_abnormal_neuron_morphology0.85886939
110MP0000372_irregular_coat_pigmentation0.85769249
111MP0002166_altered_tumor_susceptibility0.85242414
112MP0004859_abnormal_synaptic_plasticity0.85130918
113MP0003221_abnormal_cardiomyocyte_apopto0.85046648
114MP0006082_CNS_inflammation0.84702595
115MP0005379_endocrine/exocrine_gland_phen0.84570725
116MP0004085_abnormal_heartbeat0.84212958
117MP0010094_abnormal_chromosome_stability0.83934736
118MP0002653_abnormal_ependyma_morphology0.83630712
119MP0005386_behavior/neurological_phenoty0.83462163
120MP0004924_abnormal_behavior0.83462163
121MP0005499_abnormal_olfactory_system0.82233894
122MP0005394_taste/olfaction_phenotype0.82233894
123MP0002723_abnormal_immune_serum0.81930964
124MP0001851_eye_inflammation0.79254432
125MP0003943_abnormal_hepatobiliary_system0.77386930
126MP0004043_abnormal_pH_regulation0.76437308
127MP0005451_abnormal_body_composition0.76269911
128MP0002160_abnormal_reproductive_system0.76255964
129MP0002398_abnormal_bone_marrow0.75933928
130MP0008057_abnormal_DNA_replication0.75828844
131MP0003724_increased_susceptibility_to0.75484968
132MP0002909_abnormal_adrenal_gland0.75261973
133MP0000703_abnormal_thymus_morphology0.75206520
134MP0006072_abnormal_retinal_apoptosis0.74745770
135MP0004147_increased_porphyrin_level0.74421052
136MP0005375_adipose_tissue_phenotype0.73857728
137MP0005195_abnormal_posterior_eye0.73731201
138MP0001984_abnormal_olfaction0.72928302
139MP0003195_calcinosis0.71894044
140MP0002184_abnormal_innervation0.71820899
141MP0003638_abnormal_response/metabolism_0.70447384
142MP0001502_abnormal_circadian_rhythm0.70355842
143MP0005623_abnormal_meninges_morphology0.70341304
144MP0008004_abnormal_stomach_pH0.70304897
145MP0002108_abnormal_muscle_morphology0.70137151
146MP0005389_reproductive_system_phenotype0.70030637
147* MP0004811_abnormal_neuron_physiology0.69396710
148MP0003693_abnormal_embryo_hatching0.68731068
149MP0003953_abnormal_hormone_level0.68309070
150MP0005535_abnormal_body_temperature0.67934595
151MP0005671_abnormal_response_to0.67451696
152MP0005647_abnormal_sex_gland0.67312081
153MP0009115_abnormal_fat_cell0.66550050
154MP0010630_abnormal_cardiac_muscle0.65474773
155MP0003111_abnormal_nucleus_morphology0.65396150
156MP0010307_abnormal_tumor_latency0.64762744
157MP0008961_abnormal_basal_metabolism0.64561512
158MP0001790_abnormal_immune_system0.64149521
159MP0005387_immune_system_phenotype0.64149521
160MP0001835_abnormal_antigen_presentation0.63874382
161MP0002405_respiratory_system_inflammati0.63815143
162MP0000716_abnormal_immune_system0.63677971
163MP0001819_abnormal_immune_cell0.62995711
164MP0002420_abnormal_adaptive_immunity0.62713474
165* MP0004233_abnormal_muscle_weight0.62604422
166MP0004947_skin_inflammation0.62516904
167MP0001873_stomach_inflammation0.62496679
168MP0008007_abnormal_cellular_replicative0.61013994
169MP0002139_abnormal_hepatobiliary_system0.60715059
170MP0002452_abnormal_antigen_presenting0.60702207
171MP0002006_tumorigenesis0.60585865
172MP0005330_cardiomyopathy0.60024385
173MP0002796_impaired_skin_barrier0.58368541
174MP0002722_abnormal_immune_system0.58324039
175MP0003656_abnormal_erythrocyte_physiolo0.57849184
176MP0003045_fibrosis0.57430264
177MP0002332_abnormal_exercise_endurance0.57231246
178MP0005334_abnormal_fat_pad0.56631343
179MP0006035_abnormal_mitochondrial_morpho0.56247657
180MP0000689_abnormal_spleen_morphology0.55543923
181MP0005636_abnormal_mineral_homeostasis0.54575807
182MP0000609_abnormal_liver_physiology0.53938424
183MP0005266_abnormal_metabolism0.51000562
184MP0005025_abnormal_response_to0.50049453
185MP0005319_abnormal_enzyme/_coenzyme0.49685028
186MP0005584_abnormal_enzyme/coenzyme_acti0.49157614
187MP0002396_abnormal_hematopoietic_system0.47594662
188MP0002429_abnormal_blood_cell0.47411315
189MP0005076_abnormal_cell_differentiation0.46347526
190MP0005000_abnormal_immune_tolerance0.44543922
191MP0008995_early_reproductive_senescence0.43837969
192MP0003077_abnormal_cell_cycle0.43364326
193MP0004084_abnormal_cardiac_muscle0.42116834
194MP0000358_abnormal_cell_content/0.39111825

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)8.79581849
2Dynein arm defect of respiratory motile cilia (HP:0012255)8.61639026
3Absent/shortened dynein arms (HP:0200106)8.61639026
4Exercise-induced myalgia (HP:0003738)7.60072640
5Muscle fiber inclusion bodies (HP:0100299)7.13456636
6Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)6.77653361
7Nemaline bodies (HP:0003798)6.49710389
8Abnormal respiratory motile cilium morphology (HP:0005938)6.09812702
9Abnormal respiratory epithelium morphology (HP:0012253)6.09812702
10Abnormal respiratory motile cilium physiology (HP:0012261)5.95411903
11Exercise-induced muscle cramps (HP:0003710)5.80427233
12Nasal polyposis (HP:0100582)5.67831740
13Rhinitis (HP:0012384)5.13583295
14Type 1 muscle fiber predominance (HP:0003803)4.76546901
15Ulnar deviation of the wrist (HP:0003049)4.75696948
16Muscle hypertrophy of the lower extremities (HP:0008968)4.75665590
17Chronic bronchitis (HP:0004469)4.74770492
18Abnormality of cells of the erythroid lineage (HP:0012130)4.72257216
19Round ear (HP:0100830)4.71604873
20Distal arthrogryposis (HP:0005684)4.70919588
21Hyporeflexia of lower limbs (HP:0002600)4.66995381
22Abnormality of the nasal mucosa (HP:0000433)4.56761993
23Abnormal number of erythroid precursors (HP:0012131)4.53414792
24Abnormal ciliary motility (HP:0012262)4.50650208
25Myopathic facies (HP:0002058)4.29349123
26Infertility (HP:0000789)4.28179007
27Calf muscle hypertrophy (HP:0008981)4.17350015
28Difficulty running (HP:0009046)4.04166439
29Myoglobinuria (HP:0002913)3.96600826
30Myokymia (HP:0002411)3.80237237
31Renal Fanconi syndrome (HP:0001994)3.79620052
32Muscle fiber splitting (HP:0003555)3.75649928
33Rhabdomyolysis (HP:0003201)3.64651706
34Calcaneovalgus deformity (HP:0001848)3.51051460
35Hydroureter (HP:0000072)3.51035018
36Acute necrotizing encephalopathy (HP:0006965)3.47445659
37Muscle stiffness (HP:0003552)3.45994137
38Areflexia of lower limbs (HP:0002522)3.28950428
39Bronchitis (HP:0012387)3.27769803
40Absent phalangeal crease (HP:0006109)3.27113468
41Pallor (HP:0000980)3.26329425
42Bronchiectasis (HP:0002110)3.19312587
43Macrocytic anemia (HP:0001972)3.15626314
44Deformed tarsal bones (HP:0008119)3.12006651
45Abnormal mitochondria in muscle tissue (HP:0008316)3.05128955
46Abnormality of renal resorption (HP:0011038)3.03215454
47Abnormal finger flexion creases (HP:0006143)3.02524670
48Septo-optic dysplasia (HP:0100842)3.00082015
49Increased connective tissue (HP:0009025)2.99635019
50EMG: myopathic abnormalities (HP:0003458)2.96046550
51Mitochondrial inheritance (HP:0001427)2.95044269
52Abnormality of midbrain morphology (HP:0002418)2.87015381
53Molar tooth sign on MRI (HP:0002419)2.87015381
54Reticulocytopenia (HP:0001896)2.86052024
55Chronic hepatic failure (HP:0100626)2.85799374
56Asymmetric septal hypertrophy (HP:0001670)2.84248428
57Abnormal spermatogenesis (HP:0008669)2.83038343
58Pancreatic fibrosis (HP:0100732)2.80958862
59Difficulty climbing stairs (HP:0003551)2.80598437
60Acute encephalopathy (HP:0006846)2.80547464
61Toxemia of pregnancy (HP:0100603)2.78724285
62Recurrent sinusitis (HP:0011108)2.76691647
63Subaortic stenosis (HP:0001682)2.76176361
64Abnormality of the left ventricular outflow tract (HP:0011103)2.76176361
65Progressive macrocephaly (HP:0004481)2.75628656
66Osteomalacia (HP:0002749)2.74311390
67Abnormal hemoglobin (HP:0011902)2.73332060
68Progressive cerebellar ataxia (HP:0002073)2.68070417
69Abnormality of the heme biosynthetic pathway (HP:0010472)2.63379122
70Hyperkalemia (HP:0002153)2.62246024
71Neck muscle weakness (HP:0000467)2.58686292
72Abnormal drinking behavior (HP:0030082)2.57935323
73Polydipsia (HP:0001959)2.57935323
74Abnormality of skeletal muscle fiber size (HP:0012084)2.54260472
75True hermaphroditism (HP:0010459)2.53480434
76Polyphagia (HP:0002591)2.53084894
77Rib fusion (HP:0000902)2.51379143
78Anophthalmia (HP:0000528)2.51030071
79Male infertility (HP:0003251)2.50799903
80Failure to thrive in infancy (HP:0001531)2.46263069
81Malignant hyperthermia (HP:0002047)2.39833137
82Increased hepatocellular lipid droplets (HP:0006565)2.35856686
83Aplasia/Hypoplasia of the sacrum (HP:0008517)2.35558796
84Myotonia (HP:0002486)2.32931716
85Recurrent otitis media (HP:0000403)2.32333521
86Decreased central vision (HP:0007663)2.31325867
87Abnormality of lateral ventricle (HP:0030047)2.30274508
88Recurrent bronchitis (HP:0002837)2.29769344
89Abnormality of the calf musculature (HP:0001430)2.27443900
90Lipid accumulation in hepatocytes (HP:0006561)2.26575532
91Pancreatic cysts (HP:0001737)2.26142755
92EMG: neuropathic changes (HP:0003445)2.23141674
93Epileptic encephalopathy (HP:0200134)2.22409597
94Increased CSF lactate (HP:0002490)2.22352090
95Exertional dyspnea (HP:0002875)2.20782354
96Azoospermia (HP:0000027)2.20337224
97Severe muscular hypotonia (HP:0006829)2.19878913
98Maternal diabetes (HP:0009800)2.16945041
99Optic nerve hypoplasia (HP:0000609)2.15226944
100Abnormality of the renal medulla (HP:0100957)2.14869722
101Generalized aminoaciduria (HP:0002909)2.13996706
102Increased variability in muscle fiber diameter (HP:0003557)2.13857091
103Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.11975312
104Optic disc pallor (HP:0000543)2.11075131
105Frequent falls (HP:0002359)2.11020086
106* Abnormality of the neuromuscular junction (HP:0003398)2.10648830
107* Fatigable weakness (HP:0003473)2.10648830
108Anomalous pulmonary venous return (HP:0010772)2.06299391
109Bony spicule pigmentary retinopathy (HP:0007737)2.05886113
110Limb dystonia (HP:0002451)2.04987719
111Rimmed vacuoles (HP:0003805)2.04835540
112Abnormality of urine glucose concentration (HP:0011016)2.02181223
113Glycosuria (HP:0003076)2.02181223
114Gait imbalance (HP:0002141)2.01732545
115Hyperthyroidism (HP:0000836)2.01365302
116Median cleft lip (HP:0000161)2.00731409
117* Easy fatigability (HP:0003388)2.00384250
118Abnormality of binocular vision (HP:0011514)1.99153572
119Diplopia (HP:0000651)1.99153572
120Increased intramyocellular lipid droplets (HP:0012240)1.98316048
121Type II lissencephaly (HP:0007260)1.95409742
122Insulin-resistant diabetes mellitus (HP:0000831)1.95381276
123Abnormality of the calcaneus (HP:0008364)1.95358164
124Abnormality of the frontal sinuses (HP:0002687)1.94714289
125Sclerocornea (HP:0000647)1.94623917
126Anencephaly (HP:0002323)1.94423471
127Pelvic girdle muscle weakness (HP:0003749)1.93479028
128Agitation (HP:0000713)1.92427527
129Febrile seizures (HP:0002373)1.91729950
130Medial flaring of the eyebrow (HP:0010747)1.91292387
1313-Methylglutaconic aciduria (HP:0003535)1.90189667
132Oligodactyly (hands) (HP:0001180)1.89924689
133Absent septum pellucidum (HP:0001331)1.89543759
134Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.89475652
135Hypogonadotrophic hypogonadism (HP:0000044)1.89152234
136Confusion (HP:0001289)1.89093590
137Shoulder girdle muscle weakness (HP:0003547)1.88018802
138Centrally nucleated skeletal muscle fibers (HP:0003687)1.87684704
139Abnormality of the columella (HP:0009929)1.87612527
140Abnormal rod and cone electroretinograms (HP:0008323)1.87493210
141Cystic liver disease (HP:0006706)1.87445381
142Abnormality of the musculature of the pelvis (HP:0001469)1.84568801
143Abnormality of the hip-girdle musculature (HP:0001445)1.84568801
144Hepatocellular necrosis (HP:0001404)1.84338729
145Abnormality of the incisor (HP:0000676)1.83639121
146Autoimmune hemolytic anemia (HP:0001890)1.81728338
147Respiratory difficulties (HP:0002880)1.81314921
148Impulsivity (HP:0100710)1.80556553
149Congenital stationary night blindness (HP:0007642)1.79664277
150Nephronophthisis (HP:0000090)1.79130647
151Spastic tetraplegia (HP:0002510)1.77891674
152Focal motor seizures (HP:0011153)1.75829017
153Polyuria (HP:0000103)1.75463819
154Hyperuricemia (HP:0002149)1.74390643
155Increased purine levels (HP:0004368)1.74390643
156Pachygyria (HP:0001302)1.73493950
157Esophageal atresia (HP:0002032)1.73338464
158Increased muscle lipid content (HP:0009058)1.72565216
159Growth hormone deficiency (HP:0000824)1.72500292
160Sleep apnea (HP:0010535)1.72475568
161Congenital, generalized hypertrichosis (HP:0004540)1.72248118
162Abnormality of the pulmonary veins (HP:0011718)1.72055585
163Short palpebral fissure (HP:0012745)1.69412768
164* Generalized muscle weakness (HP:0003324)1.67447806
165Paralysis (HP:0003470)1.65136995
166Muscular dystrophy (HP:0003560)1.63188081
167Bundle branch block (HP:0011710)1.62187438
168Spastic tetraparesis (HP:0001285)1.60707520
169Facial diplegia (HP:0001349)1.58769024
170Cholecystitis (HP:0001082)1.56118658
171Abnormal gallbladder physiology (HP:0012438)1.56118658
172Microglossia (HP:0000171)1.50637774
173Progressive muscle weakness (HP:0003323)1.50441745
174Gout (HP:0001997)1.48725597
175* Gowers sign (HP:0003391)1.47835553
176Limb-girdle muscle weakness (HP:0003325)1.47674735
177* Weak cry (HP:0001612)1.46421117
178Proximal amyotrophy (HP:0007126)1.44386203
179Cerebellar dysplasia (HP:0007033)1.44264424
180Ulnar deviation of finger (HP:0009465)1.44002262
181* Bulbar palsy (HP:0001283)1.41146710
182Slender build (HP:0001533)1.38778891
183Hypoalphalipoproteinemia (HP:0003233)1.35068162
184Congenital primary aphakia (HP:0007707)1.32343329
185Spinal rigidity (HP:0003306)1.30924973

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK47.43548639
2PDK37.43548639
3TSSK66.41563665
4PDK24.79815764
5OBSCN4.51284143
6TESK13.52851556
7TTN3.24846636
8ICK2.95973943
9TLK12.58932060
10TAOK32.43392820
11PRKD32.35516521
12BMPR22.35480157
13PHKG12.26551838
14PHKG22.26551838
15IRAK42.08022123
16NME11.97203594
17NTRK21.80423614
18MAP2K31.79868651
19NTRK31.77438661
20TNIK1.73462799
21PIK3CG1.71744084
22DYRK21.63289952
23MAP2K71.61743119
24ADRBK21.58513638
25SGK2231.56958453
26SGK4941.56958453
27MARK11.55738631
28DMPK1.55323241
29TIE11.55197894
30STK391.50099555
31BRAF1.44538191
32SGK21.40516132
33MAP3K41.35845274
34AKT31.32324306
35MAP2K61.31150357
36PRKCG1.27654860
37STK161.26008626
38IRAK11.24378812
39MAPK131.23259812
40MAP3K111.19344970
41ABL21.19224848
42NEK21.16155115
43PAK31.15563790
44PINK11.15396899
45BRSK21.14297642
46PNCK1.08886212
47ITK1.07171938
48GRK11.06522798
49PTK2B1.05545747
50STK381.03503362
51PRKD21.03026659
52WNK41.01224381
53PDK11.00083160
54TAOK11.00030435
55DYRK30.99940315
56PRKCH0.99211863
57SGK30.98940295
58CASK0.97072445
59CAMK10.96453800
60RPS6KA20.91212841
61MAPK120.89615099
62DAPK20.85450903
63IKBKE0.85250942
64TAF10.84439607
65MINK10.83558697
66DYRK1B0.83125060
67STK100.81433852
68MAPKAPK30.81066660
69BMPR1B0.79091099
70CHEK20.74547850
71INSRR0.73870930
72PRKAA10.73781367
73MAP3K70.73076405
74MAP4K10.70332340
75MATK0.68647105
76SGK10.67805848
77CDK30.67765172
78GRK70.67174600
79PRKCZ0.66602755
80TXK0.66113056
81MAPK150.66049971
82EPHB10.64510523
83ADRBK10.64050778
84PRKD10.63541760
85IRAK20.60350505
86ZAP700.60011706
87TYRO30.59610865
88RPS6KA60.59460909
89SIK20.58577055
90BLK0.56344229
91PLK40.56220395
92MUSK0.55690025
93MARK30.55132277
94PRKACA0.54917680
95MAP3K50.54837463
96STK30.53378384
97GSK3A0.52995020
98WNK30.52144950
99PDPK10.52129864
100MAP2K20.51979873
101PRKG10.51438274
102PRKAA20.50871195
103MAP2K40.50742798
104EPHB20.50490345
105PKN10.50268130
106IKBKB0.49705664
107RPS6KL10.49057200
108RPS6KC10.49057200
109WNK10.49018800
110CCNB10.48963377
111CDK120.48542665
112NEK60.48332895
113FRK0.46732852
114TYK20.46460420
115CDK50.44923472
116MAPK40.44727298
117PAK10.44210870
118EEF2K0.44145984
119RIPK40.43905454
120CHEK10.43689853
121TRIB30.43603096
122UHMK10.43601157
123ARAF0.43001512
124CAMK40.41786398
125BCKDK0.41547556
126CAMK2A0.41457897
127MARK20.41217792
128DYRK1A0.40745801
129PIK3CA0.40063250
130SYK0.39495266
131CHUK0.38213116
132WEE10.38195484
133MAP3K30.37439180
134CAMK1D0.35135344
135CDK40.34701686
136PRKCD0.33963752
137NEK10.33935297
138CSK0.33689563
139PRKCQ0.32534112
140RPS6KA10.31726357
141MTOR0.29753280
142CDK90.27104154
143JAK30.25101992
144CSNK1D0.23960701
145TBK10.23409433
146STK240.22259372
147BRSK10.21505189
148FGFR40.21202273
149VRK10.21141585
150PIM10.21011149
151PDGFRB0.18885905
152NEK90.16402522
153ATM0.14938870
154PLK10.14566748
155MAPK80.14400488
156CAMK1G0.14305834
157RIPK10.14274704
158CAMK2G0.13468142
159MAPK100.13193255
160LATS20.12051496
161PTK60.11934870
162STK110.10547392
163MAPK110.10055786
164TESK20.09636716
165MAP3K60.09538783
166LCK0.08158934
167CDK60.08143753
168STK38L0.08060584

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.72437813
2Vitamin B6 metabolism_Homo sapiens_hsa007504.29264041
3Oxidative phosphorylation_Homo sapiens_hsa001904.02250091
4Fatty acid biosynthesis_Homo sapiens_hsa000613.90622642
5Glycolysis / Gluconeogenesis_Homo sapiens_hsa000103.56327819
6Parkinsons disease_Homo sapiens_hsa050123.51798519
7Propanoate metabolism_Homo sapiens_hsa006403.17797857
8Glucagon signaling pathway_Homo sapiens_hsa049222.86454517
9Pyruvate metabolism_Homo sapiens_hsa006202.77621525
10Pentose phosphate pathway_Homo sapiens_hsa000302.73723068
11Graft-versus-host disease_Homo sapiens_hsa053322.70127157
12Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.63911571
13Antigen processing and presentation_Homo sapiens_hsa046122.62139886
14Phototransduction_Homo sapiens_hsa047442.51329408
15Basal transcription factors_Homo sapiens_hsa030222.47595590
16Nicotine addiction_Homo sapiens_hsa050332.47503994
17Alzheimers disease_Homo sapiens_hsa050102.39017220
18Linoleic acid metabolism_Homo sapiens_hsa005911.96280615
19Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.94483170
20alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.91971915
21Carbon metabolism_Homo sapiens_hsa012001.91949583
22Morphine addiction_Homo sapiens_hsa050321.80967992
23Nitrogen metabolism_Homo sapiens_hsa009101.78987814
24Selenocompound metabolism_Homo sapiens_hsa004501.76750462
25Cardiac muscle contraction_Homo sapiens_hsa042601.73838908
26Cocaine addiction_Homo sapiens_hsa050301.72366917
27PPAR signaling pathway_Homo sapiens_hsa033201.67795224
28GABAergic synapse_Homo sapiens_hsa047271.67253678
29Fatty acid degradation_Homo sapiens_hsa000711.67243620
30T cell receptor signaling pathway_Homo sapiens_hsa046601.64038268
31Adipocytokine signaling pathway_Homo sapiens_hsa049201.59857305
32Maturity onset diabetes of the young_Homo sapiens_hsa049501.58438700
33Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.54578058
34Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.52692477
35Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.51872059
36Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.49772952
37Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.46333675
38Oocyte meiosis_Homo sapiens_hsa041141.43099006
39Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.43028397
40Olfactory transduction_Homo sapiens_hsa047401.42654626
41Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.40114774
42Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.39969099
43Biosynthesis of amino acids_Homo sapiens_hsa012301.38888927
44Glycerolipid metabolism_Homo sapiens_hsa005611.37047054
45Glycerophospholipid metabolism_Homo sapiens_hsa005641.35951273
46Notch signaling pathway_Homo sapiens_hsa043301.35854568
47* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.35460255
48Insulin secretion_Homo sapiens_hsa049111.33649037
49Circadian entrainment_Homo sapiens_hsa047131.30605586
50Fructose and mannose metabolism_Homo sapiens_hsa000511.30375643
51Prion diseases_Homo sapiens_hsa050201.30329829
52Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.29009569
53Fatty acid metabolism_Homo sapiens_hsa012121.26164053
54AMPK signaling pathway_Homo sapiens_hsa041521.25864470
55Carbohydrate digestion and absorption_Homo sapiens_hsa049731.24903556
56Serotonergic synapse_Homo sapiens_hsa047261.23548781
57Glutamatergic synapse_Homo sapiens_hsa047241.21448844
58Dopaminergic synapse_Homo sapiens_hsa047281.20758286
59Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.17868069
60Primary immunodeficiency_Homo sapiens_hsa053401.14277250
61Cysteine and methionine metabolism_Homo sapiens_hsa002701.12502250
62Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.11312410
63Starch and sucrose metabolism_Homo sapiens_hsa005001.10319573
64Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.09379524
65Collecting duct acid secretion_Homo sapiens_hsa049661.08533520
66Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.08256167
67Circadian rhythm_Homo sapiens_hsa047101.07634123
68Insulin resistance_Homo sapiens_hsa049311.07104267
69Purine metabolism_Homo sapiens_hsa002301.07042873
70African trypanosomiasis_Homo sapiens_hsa051431.05653082
71Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.05396833
72Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.02524843
73Glycosaminoglycan degradation_Homo sapiens_hsa005311.01404694
74RNA transport_Homo sapiens_hsa030130.96162695
75Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.94935036
76Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.94438280
77Arachidonic acid metabolism_Homo sapiens_hsa005900.94067910
78Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.93495899
79Long-term depression_Homo sapiens_hsa047300.93002899
80Fanconi anemia pathway_Homo sapiens_hsa034600.92697158
81Cholinergic synapse_Homo sapiens_hsa047250.91378618
82Sulfur relay system_Homo sapiens_hsa041220.90790791
83cAMP signaling pathway_Homo sapiens_hsa040240.88483033
84Estrogen signaling pathway_Homo sapiens_hsa049150.88091879
85Butanoate metabolism_Homo sapiens_hsa006500.87769887
86Dorso-ventral axis formation_Homo sapiens_hsa043200.86559641
87Insulin signaling pathway_Homo sapiens_hsa049100.82086697
88Inositol phosphate metabolism_Homo sapiens_hsa005620.81381005
89RNA polymerase_Homo sapiens_hsa030200.80874750
90Measles_Homo sapiens_hsa051620.80842341
91Ether lipid metabolism_Homo sapiens_hsa005650.79988504
92Calcium signaling pathway_Homo sapiens_hsa040200.79826746
93Synaptic vesicle cycle_Homo sapiens_hsa047210.79730868
94Taste transduction_Homo sapiens_hsa047420.76704951
95Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.75617252
96Tryptophan metabolism_Homo sapiens_hsa003800.73499217
97Malaria_Homo sapiens_hsa051440.72512546
98Ovarian steroidogenesis_Homo sapiens_hsa049130.69702852
99Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.69386518
100p53 signaling pathway_Homo sapiens_hsa041150.68438161
101cGMP-PKG signaling pathway_Homo sapiens_hsa040220.68087961
102Aldosterone synthesis and secretion_Homo sapiens_hsa049250.67556881
103mRNA surveillance pathway_Homo sapiens_hsa030150.65903778
104B cell receptor signaling pathway_Homo sapiens_hsa046620.65320579
105Oxytocin signaling pathway_Homo sapiens_hsa049210.64385518
106Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.63307760
107Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.63078580
108Huntingtons disease_Homo sapiens_hsa050160.62949259
109Regulation of autophagy_Homo sapiens_hsa041400.62790755
110Viral myocarditis_Homo sapiens_hsa054160.60331926
111Long-term potentiation_Homo sapiens_hsa047200.59792478
112Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.59556801
113Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.59473957
114Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.57899218
115Arginine biosynthesis_Homo sapiens_hsa002200.57778008
116Dilated cardiomyopathy_Homo sapiens_hsa054140.57398559
117Arginine and proline metabolism_Homo sapiens_hsa003300.56830326
118VEGF signaling pathway_Homo sapiens_hsa043700.56491625
119Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.55364111
120Fat digestion and absorption_Homo sapiens_hsa049750.55067151
121Autoimmune thyroid disease_Homo sapiens_hsa053200.54806116
122Viral carcinogenesis_Homo sapiens_hsa052030.53550405
123Folate biosynthesis_Homo sapiens_hsa007900.52106325
124Toll-like receptor signaling pathway_Homo sapiens_hsa046200.51870152
125Vitamin digestion and absorption_Homo sapiens_hsa049770.50848199
126NOD-like receptor signaling pathway_Homo sapiens_hsa046210.50728813
127Chemokine signaling pathway_Homo sapiens_hsa040620.50538082
128Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.50363207
129Rheumatoid arthritis_Homo sapiens_hsa053230.49950132
130Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.49261543
131Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.48771946
132ABC transporters_Homo sapiens_hsa020100.48544522
133Epstein-Barr virus infection_Homo sapiens_hsa051690.47891895
134Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.47801441
135Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.47669405
136Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.46822430
137Protein export_Homo sapiens_hsa030600.46176498
138Jak-STAT signaling pathway_Homo sapiens_hsa046300.45635306
139Glutathione metabolism_Homo sapiens_hsa004800.45632362
140Primary bile acid biosynthesis_Homo sapiens_hsa001200.44483864
141Intestinal immune network for IgA production_Homo sapiens_hsa046720.43589579
142Amphetamine addiction_Homo sapiens_hsa050310.43226901
143Phosphatidylinositol signaling system_Homo sapiens_hsa040700.42763934
144Legionellosis_Homo sapiens_hsa051340.42287164
145MAPK signaling pathway_Homo sapiens_hsa040100.41806504
146Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.41703685
147Mineral absorption_Homo sapiens_hsa049780.41556866
148Metabolic pathways_Homo sapiens_hsa011000.40603481
149Gastric acid secretion_Homo sapiens_hsa049710.40166133
150Galactose metabolism_Homo sapiens_hsa000520.40004906
151Vascular smooth muscle contraction_Homo sapiens_hsa042700.39943744
152Hedgehog signaling pathway_Homo sapiens_hsa043400.39749152
153Salivary secretion_Homo sapiens_hsa049700.39525795
154Osteoclast differentiation_Homo sapiens_hsa043800.39220746
155Longevity regulating pathway - mammal_Homo sapiens_hsa042110.38994649
156Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.37521999
157FoxO signaling pathway_Homo sapiens_hsa040680.36586690
158Leishmaniasis_Homo sapiens_hsa051400.35288680
159Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.34838673
160Renin secretion_Homo sapiens_hsa049240.34752584
161Cell cycle_Homo sapiens_hsa041100.34040864
162Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.33652822
163Ras signaling pathway_Homo sapiens_hsa040140.32027129
164Chemical carcinogenesis_Homo sapiens_hsa052040.31644088
165Toxoplasmosis_Homo sapiens_hsa051450.30680386
166Basal cell carcinoma_Homo sapiens_hsa052170.30322183
167Axon guidance_Homo sapiens_hsa043600.29815607
168Gap junction_Homo sapiens_hsa045400.28313788
169Peroxisome_Homo sapiens_hsa041460.27050562
170Wnt signaling pathway_Homo sapiens_hsa043100.26491287
171NF-kappa B signaling pathway_Homo sapiens_hsa040640.26029258
172Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.25581306
173Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.25212212
174Renal cell carcinoma_Homo sapiens_hsa052110.25163129
175Systemic lupus erythematosus_Homo sapiens_hsa053220.24928657
176Influenza A_Homo sapiens_hsa051640.24504698
177Non-homologous end-joining_Homo sapiens_hsa034500.23354573

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