OPA1

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 product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple 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
1nuclear pore complex assembly (GO:0051292)8.29050411
2nuclear pore organization (GO:0006999)7.48710340
3pore complex assembly (GO:0046931)6.08796151
4DNA unwinding involved in DNA replication (GO:0006268)5.43299597
5mitotic sister chromatid cohesion (GO:0007064)5.25415255
6mitotic chromosome condensation (GO:0007076)4.92552973
7regulation of RNA export from nucleus (GO:0046831)4.56873493
8regulation of attachment of spindle microtubules to kinetochore (GO:0051988)4.40665699
9regulation of short-term neuronal synaptic plasticity (GO:0048172)3.96092972
10regulation of nucleobase-containing compound transport (GO:0032239)3.93334449
11synaptic vesicle maturation (GO:0016188)3.91169594
12sister chromatid segregation (GO:0000819)3.85649989
13locomotory exploration behavior (GO:0035641)3.84077636
14cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.83563714
15regulation of mitotic spindle organization (GO:0060236)3.79806839
16negative regulation of DNA repair (GO:0045738)3.77089049
17protein localization to chromosome, centromeric region (GO:0071459)3.76591078
18regulation of centriole replication (GO:0046599)3.74055579
19NLS-bearing protein import into nucleus (GO:0006607)3.73046630
20DNA duplex unwinding (GO:0032508)3.67258466
21positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.62908930
22mitotic sister chromatid segregation (GO:0000070)3.60849634
23positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.58824777
24regulation of sister chromatid cohesion (GO:0007063)3.58200926
25regulation of translational fidelity (GO:0006450)3.51781022
26DNA topological change (GO:0006265)3.50996719
27mitotic metaphase plate congression (GO:0007080)3.50277124
28layer formation in cerebral cortex (GO:0021819)3.50242429
29DNA geometric change (GO:0032392)3.49854784
30non-recombinational repair (GO:0000726)3.49706325
31double-strand break repair via nonhomologous end joining (GO:0006303)3.49706325
32positive regulation of chromosome segregation (GO:0051984)3.49519017
33lysine metabolic process (GO:0006553)3.48667839
34lysine catabolic process (GO:0006554)3.48667839
35glutamate secretion (GO:0014047)3.48469303
36activation of protein kinase A activity (GO:0034199)3.44706501
37pre-miRNA processing (GO:0031054)3.42458237
38vocalization behavior (GO:0071625)3.42368912
39protein localization to kinetochore (GO:0034501)3.41435209
40cell communication by electrical coupling (GO:0010644)3.40720461
41dicarboxylic acid biosynthetic process (GO:0043650)3.39217189
42synaptic vesicle exocytosis (GO:0016079)3.38816554
43membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.38127438
44positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.37159113
45establishment of integrated proviral latency (GO:0075713)3.35638884
46carnitine shuttle (GO:0006853)3.35366114
47ribosome assembly (GO:0042255)3.32449514
48synaptic vesicle docking involved in exocytosis (GO:0016081)3.31021424
49sodium ion export (GO:0071436)3.26373964
50regulation of histone H3-K9 methylation (GO:0051570)3.25454346
51negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.25417182
52regulation of spindle organization (GO:0090224)3.25140915
53nuclear envelope disassembly (GO:0051081)3.25096669
54membrane disassembly (GO:0030397)3.25096669
55regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.24526185
56mitotic nuclear envelope disassembly (GO:0007077)3.24219580
57cellular potassium ion homeostasis (GO:0030007)3.24185890
58cell communication involved in cardiac conduction (GO:0086065)3.24179676
59regulation of synapse structural plasticity (GO:0051823)3.23200523
60fatty acid transmembrane transport (GO:1902001)3.22518976
61establishment of chromosome localization (GO:0051303)3.20285785
62positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.16979214
63positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.16979214
64positive regulation of mitotic sister chromatid separation (GO:1901970)3.16979214
65regulation of DNA endoreduplication (GO:0032875)3.16719876
66metaphase plate congression (GO:0051310)3.16562754
67regulation of synaptic vesicle exocytosis (GO:2000300)3.14227803
68tricarboxylic acid cycle (GO:0006099)3.14002291
69regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.11264900
70aspartate family amino acid catabolic process (GO:0009068)3.11239430
71neurotransmitter secretion (GO:0007269)3.10705274
72protein complex localization (GO:0031503)3.09239171
73COPI coating of Golgi vesicle (GO:0048205)3.08985685
74Golgi transport vesicle coating (GO:0048200)3.08985685
75regulation of glutamate receptor signaling pathway (GO:1900449)3.08940211
76regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.07765960
77regulation of chromosome segregation (GO:0051983)3.06996952
78cellular protein complex localization (GO:0034629)3.06864054
79cytoplasmic mRNA processing body assembly (GO:0033962)3.05870331
80negative regulation of potassium ion transmembrane transport (GO:1901380)3.05522063
81alpha-linolenic acid metabolic process (GO:0036109)3.00003135
82regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.99967801
83paraxial mesoderm development (GO:0048339)2.99093172
84proline transport (GO:0015824)2.98544427
85gamma-aminobutyric acid transport (GO:0015812)2.97180998
86histone H2B ubiquitination (GO:0033523)2.96871003
87regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.96653573
88protein export from nucleus (GO:0006611)2.95424666
89DNA conformation change (GO:0071103)2.94338301
90regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.94336072
91cellular ketone body metabolic process (GO:0046950)2.93594894
92acetyl-CoA metabolic process (GO:0006084)2.92114509
932-oxoglutarate metabolic process (GO:0006103)2.90260700
94cytoskeletal anchoring at plasma membrane (GO:0007016)2.89488411
95dicarboxylic acid catabolic process (GO:0043649)2.86972785
96negative regulation of histone methylation (GO:0031061)2.86705510
97exploration behavior (GO:0035640)2.85739306
98regulation of membrane repolarization (GO:0060306)2.84935358
99regulation of synaptic vesicle transport (GO:1902803)2.84814950
100protein localization to synapse (GO:0035418)2.84620850
101neurotransmitter-gated ion channel clustering (GO:0072578)2.84521366
102regulation of acyl-CoA biosynthetic process (GO:0050812)2.84502522
103regulation of dendritic spine morphogenesis (GO:0061001)2.79643662
104regulation of centrosome duplication (GO:0010824)2.77656941
105regulation of mitotic metaphase/anaphase transition (GO:0030071)2.77553909
106regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.77553909
107regulation of centrosome cycle (GO:0046605)2.77186760
108regulation of NFAT protein import into nucleus (GO:0051532)2.76423119
109IMP metabolic process (GO:0046040)2.75410430
110regulation of mitotic sister chromatid separation (GO:0010965)2.75370020
111regulation of mitotic sister chromatid segregation (GO:0033047)2.75370020
112regulation of sister chromatid segregation (GO:0033045)2.75370020
113erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.75226717
114L-phenylalanine catabolic process (GO:0006559)2.75226717
115regulation of long-term neuronal synaptic plasticity (GO:0048169)2.73648473
116dendrite morphogenesis (GO:0048813)2.73325651
117glutamate metabolic process (GO:0006536)2.72478673
118peptidyl-lysine dimethylation (GO:0018027)2.71826682
119regulation of neuronal synaptic plasticity (GO:0048168)2.71239331
120positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.71070799
121neuronal action potential propagation (GO:0019227)2.70815654
122potassium ion import (GO:0010107)2.69592029
123succinate metabolic process (GO:0006105)2.69362251
124regulation of coenzyme metabolic process (GO:0051196)2.69039169
125regulation of cofactor metabolic process (GO:0051193)2.69039169
126regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.68666410
127COPII vesicle coating (GO:0048208)2.68655778
128negative regulation of fibroblast apoptotic process (GO:2000270)2.68367129
129membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.68345551
130nucleus organization (GO:0006997)2.68152979
131DNA strand elongation involved in DNA replication (GO:0006271)2.67967510
132regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.66646920
133nuclear envelope organization (GO:0006998)2.66164843
134vesicle transport along microtubule (GO:0047496)2.65939315
135plasma membrane repair (GO:0001778)2.64922050
136IMP biosynthetic process (GO:0006188)2.64348012
137regulation of ARF protein signal transduction (GO:0032012)2.64079125
138positive regulation of synapse maturation (GO:0090129)2.62845519
139chromosome condensation (GO:0030261)2.62382918
140protein localization to microtubule (GO:0035372)2.61792665
141DNA synthesis involved in DNA repair (GO:0000731)2.61328038
142spindle checkpoint (GO:0031577)2.60632249
143DNA strand elongation (GO:0022616)2.60628506
144negative regulation of chromosome segregation (GO:0051985)2.60144668
145peptidyl-threonine modification (GO:0018210)2.59876646
146vesicle coating (GO:0006901)2.59162487
147positive regulation of potassium ion transmembrane transport (GO:1901381)2.59110912
148erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.59040865
149L-phenylalanine metabolic process (GO:0006558)2.59040865
150regulation of calcium ion transmembrane transporter activity (GO:1901019)2.58388011
151regulation of calcium ion transmembrane transport (GO:1903169)2.58388011
152DNA replication initiation (GO:0006270)2.58193942
153RNA stabilization (GO:0043489)2.57723579
154mRNA stabilization (GO:0048255)2.57723579
155dendritic spine morphogenesis (GO:0060997)2.57514494
156positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.57266053
157ketone body metabolic process (GO:1902224)2.56185227
158cerebellar Purkinje cell differentiation (GO:0021702)2.55892653
159dosage compensation (GO:0007549)2.55569270
160ionotropic glutamate receptor signaling pathway (GO:0035235)2.55449697
161positive regulation of fatty acid beta-oxidation (GO:0032000)2.55173973
162negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.54568227
163negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.54568227
164negative regulation of mitotic sister chromatid segregation (GO:0033048)2.54568227
165negative regulation of mitotic sister chromatid separation (GO:2000816)2.54568227
166negative regulation of sister chromatid segregation (GO:0033046)2.54568227
167mitotic G2/M transition checkpoint (GO:0044818)2.54453339
168neuromuscular process controlling balance (GO:0050885)2.54330550
169membrane depolarization during action potential (GO:0086010)2.54213543
170positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.53989943
171peptidyl-threonine phosphorylation (GO:0018107)2.53958610
172mitotic spindle checkpoint (GO:0071174)2.53834718
173regulation of cell communication by electrical coupling (GO:0010649)2.53525604
174organelle transport along microtubule (GO:0072384)2.53508409
175negative regulation of cytosolic calcium ion concentration (GO:0051481)2.53198545
176cardiac myofibril assembly (GO:0055003)2.52885483
177short-chain fatty acid metabolic process (GO:0046459)2.52292789
178glycine transport (GO:0015816)2.51750212
179prepulse inhibition (GO:0060134)2.51153638
180membrane repolarization (GO:0086009)2.50900777
181cardiac muscle contraction (GO:0060048)2.50407367
182nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)2.49909628
183mitotic spindle assembly checkpoint (GO:0007094)2.49642297
184mitotic G2 DNA damage checkpoint (GO:0007095)2.49398754
185cellular sodium ion homeostasis (GO:0006883)2.47858565
186glucocorticoid receptor signaling pathway (GO:0042921)2.47711278
187mitotic cytokinesis (GO:0000281)2.47383697
188regulation of fatty acid oxidation (GO:0046320)2.47313157
189NADH metabolic process (GO:0006734)2.45841014
190striatum development (GO:0021756)2.45279566
191alanine transport (GO:0032328)2.45198629
192cytoskeleton-dependent cytokinesis (GO:0061640)2.44958572
193spindle assembly checkpoint (GO:0071173)2.44630539
194glutamine metabolic process (GO:0006541)2.44363239
195neuron cell-cell adhesion (GO:0007158)2.44062846
196establishment of nucleus localization (GO:0040023)2.43216667
197DNA packaging (GO:0006323)2.42214143
198positive regulation of cell cycle checkpoint (GO:1901978)2.38829590

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human9.00916382
2FOXM1_23109430_ChIP-Seq_U2OS_Human5.06034483
3EZH2_22144423_ChIP-Seq_EOC_Human4.23147264
4* KDM5B_21448134_ChIP-Seq_MESCs_Mouse3.68485361
5AR_21909140_ChIP-Seq_LNCAP_Human3.57984221
6E2F4_17652178_ChIP-ChIP_JURKAT_Human3.55359405
7NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.17450613
8EGR1_19374776_ChIP-ChIP_THP-1_Human2.95349845
9ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.90498853
10PRDM5_23873026_ChIP-Seq_MEFs_Mouse2.73410407
11GBX2_23144817_ChIP-Seq_PC3_Human2.66798789
12SALL1_21062744_ChIP-ChIP_HESCs_Human2.57021431
13PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.55595342
14RBPJ_22232070_ChIP-Seq_NCS_Mouse2.52503823
15FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.45866903
16RARB_27405468_Chip-Seq_BRAIN_Mouse2.42815515
17DROSHA_22980978_ChIP-Seq_HELA_Human2.37304789
18WT1_19549856_ChIP-ChIP_CCG9911_Human2.25757460
19SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.23279368
20SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.17550078
21E2F1_21310950_ChIP-Seq_MCF-7_Human2.15984039
22MYC_18555785_ChIP-Seq_MESCs_Mouse2.08648379
23ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.06235380
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.04418837
25RXR_22158963_ChIP-Seq_LIVER_Mouse2.03844462
26AR_21572438_ChIP-Seq_LNCaP_Human2.03372029
27GATA1_22025678_ChIP-Seq_K562_Human2.02716919
28MYCN_18555785_ChIP-Seq_MESCs_Mouse1.94378184
29MTF2_20144788_ChIP-Seq_MESCs_Mouse1.92741296
30REST_21632747_ChIP-Seq_MESCs_Mouse1.92735659
31RNF2_18974828_ChIP-Seq_MESCs_Mouse1.92159537
32EZH2_18974828_ChIP-Seq_MESCs_Mouse1.92159537
33JARID2_20064375_ChIP-Seq_MESCs_Mouse1.89852462
34NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.89728969
35LXR_22158963_ChIP-Seq_LIVER_Mouse1.86774658
36* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.86298124
37SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.86278056
38SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.86247495
39* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.79423565
40PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.77394123
41SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.75197948
42CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.73660611
43CLOCK_20551151_ChIP-Seq_293T_Human1.73641466
44ESR1_20079471_ChIP-ChIP_T-47D_Human1.71249977
45YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.70328059
46EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.67617019
47SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.67401295
48SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.65709436
49REST_18959480_ChIP-ChIP_MESCs_Mouse1.65085878
50JARID2_20075857_ChIP-Seq_MESCs_Mouse1.65011589
51PPARA_22158963_ChIP-Seq_LIVER_Mouse1.64028891
52* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.60518642
53EP300_21415370_ChIP-Seq_HL-1_Mouse1.59640599
54MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.57126048
55NELFA_20434984_ChIP-Seq_ESCs_Mouse1.56637128
56SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.56286746
57SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.54470943
58EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.53634752
59EZH2_27294783_Chip-Seq_ESCs_Mouse1.48691710
60* SMAD4_21799915_ChIP-Seq_A2780_Human1.48220322
61NR3C1_23031785_ChIP-Seq_PC12_Mouse1.47470494
62* SOX2_21211035_ChIP-Seq_LN229_Gbm1.45511908
63MYC_19030024_ChIP-ChIP_MESCs_Mouse1.45339772
64GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.45285009
65SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.43942510
66POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.43512171
67* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.42765247
68MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.42665577
69TAF15_26573619_Chip-Seq_HEK293_Human1.41915504
70EZH2_27304074_Chip-Seq_ESCs_Mouse1.41079261
71* MYC_19079543_ChIP-ChIP_MESCs_Mouse1.41004613
72FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.40713128
73FOXA2_19822575_ChIP-Seq_HepG2_Human1.39439592
74* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.39331082
75SALL4_18804426_ChIP-ChIP_XEN_Mouse1.39032451
76SUZ12_27294783_Chip-Seq_ESCs_Mouse1.38201345
77CDX2_19796622_ChIP-Seq_MESCs_Mouse1.32682773
78ZNF274_21170338_ChIP-Seq_K562_Hela1.32584655
79RNF2_27304074_Chip-Seq_ESCs_Mouse1.31263502
80ELK1_19687146_ChIP-ChIP_HELA_Human1.31087066
81TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.30965002
82NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.29645926
83ZNF263_19887448_ChIP-Seq_K562_Human1.29583328
84CHD1_26751641_Chip-Seq_LNCaP_Human1.29550206
85WT1_25993318_ChIP-Seq_PODOCYTE_Human1.29469020
86BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.27031312
87ZNF217_24962896_ChIP-Seq_MCF-7_Human1.26893691
88AR_19668381_ChIP-Seq_PC3_Human1.25878110
89EED_16625203_ChIP-ChIP_MESCs_Mouse1.25735604
90ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.25542928
91SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.23137834
92* STAT3_23295773_ChIP-Seq_U87_Human1.23043126
93RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.22481030
94PIAS1_25552417_ChIP-Seq_VCAP_Human1.22108403
95AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.22036901
96GATA4_21415370_ChIP-Seq_HL-1_Mouse1.21924901
97FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.21503412
98WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.18975133
99FOXM1_26456572_ChIP-Seq_MCF-7_Human1.18929983
100TFEB_21752829_ChIP-Seq_HELA_Human1.18925216
101FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.18565004
102SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.18323050
103AHR_22903824_ChIP-Seq_MCF-7_Human1.18278139
104CTBP2_25329375_ChIP-Seq_LNCAP_Human1.18227509
105SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16756707
106KLF4_18555785_ChIP-Seq_MESCs_Mouse1.16542061
107TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.16235531
108PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.16069085
109TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.14394335
110NANOG_21062744_ChIP-ChIP_HESCs_Human1.13986381
111CTNNB1_20460455_ChIP-Seq_HCT116_Human1.13639800
112CTBP1_25329375_ChIP-Seq_LNCAP_Human1.13029785
113SMAD3_21741376_ChIP-Seq_EPCs_Human1.12897403
114ARNT_22903824_ChIP-Seq_MCF-7_Human1.12033295
115SMAD4_21741376_ChIP-Seq_HESCs_Human1.11284905
116SOX17_20123909_ChIP-Seq_XEN_Mouse1.10968439
117EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.10568998
118TP53_16413492_ChIP-PET_HCT116_Human1.10559989
119* KDM2B_26808549_Chip-Seq_K562_Human1.10276291
120HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.09270134
121* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.09156020
122ERG_21242973_ChIP-ChIP_JURKAT_Human1.08144140
123EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.07714138
124SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.07049861
125SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.07049861
126AR_25329375_ChIP-Seq_VCAP_Human1.06450236
127FUS_26573619_Chip-Seq_HEK293_Human1.06232220
128OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04714458
129MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.04394152
130* TCF4_23295773_ChIP-Seq_U87_Human1.04281707
131BCAT_22108803_ChIP-Seq_LS180_Human1.03854193
132NR3C1_21868756_ChIP-Seq_MCF10A_Human1.03667049
133DNAJC2_21179169_ChIP-ChIP_NT2_Human1.03145963
134KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.02522407
135* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.01697770
136* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.01270601
137SMAD_19615063_ChIP-ChIP_OVARY_Human1.01102815
138SMAD3_21741376_ChIP-Seq_HESCs_Human1.00612655
139GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00012389
140POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.99629123
141CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.99259466
142* TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.98860846
143ZFP281_18757296_ChIP-ChIP_E14_Mouse0.98742277
144FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.98364195
145CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.98339358
146P300_19829295_ChIP-Seq_ESCs_Human0.98239419
147MYB_21317192_ChIP-Seq_ERMYB_Mouse0.98173542
148CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.98119723
149FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.98112639
150* TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.98034604
151* YAP1_20516196_ChIP-Seq_MESCs_Mouse0.94961397
152TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.94795233
153NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.94373309
154ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.93312618
155TOP2B_26459242_ChIP-Seq_MCF-7_Human0.93170361
156REST_19997604_ChIP-ChIP_NEURONS_Mouse0.92667799
157STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.92143277
158ESR1_15608294_ChIP-ChIP_MCF-7_Human0.91864095
159PKCTHETA_26484144_Chip-Seq_BREAST_Human0.91602893
160RING1B_27294783_Chip-Seq_ESCs_Mouse0.91205352
161NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.91140769
162* TBX20_22328084_ChIP-Seq_HEART_Mouse0.90761781
163* TBX20_22080862_ChIP-Seq_HEART_Mouse0.90761781
164BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.90548058
165* HOXB4_20404135_ChIP-ChIP_EML_Mouse0.90128876
166* DCP1A_22483619_ChIP-Seq_HELA_Human0.89771698
167CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.89523722
168IGF1R_20145208_ChIP-Seq_DFB_Human0.88585233
169RXR_22108803_ChIP-Seq_LS180_Human0.88147343
170SOX9_26525672_Chip-Seq_HEART_Mouse0.87781613
171CREB1_15753290_ChIP-ChIP_HEK293T_Human0.87684047
172SMAD4_21741376_ChIP-Seq_EPCs_Human0.86265602
173EWS_26573619_Chip-Seq_HEK293_Human0.86152276
174MYC_22102868_ChIP-Seq_BL_Human0.86081206
175NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.85565706
176BRD4_25478319_ChIP-Seq_HGPS_Human0.84679660
177ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.84471956
178E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.84132914
179ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.83938953
180Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.83324711
181MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.83227513
182TCF4_18268006_ChIP-ChIP_LS174T_Human0.81217452

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication5.23802383
2MP0004859_abnormal_synaptic_plasticity4.50037662
3MP0010352_gastrointestinal_tract_polyps3.96321861
4MP0002837_dystrophic_cardiac_calcinosis3.24915722
5MP0002877_abnormal_melanocyte_morpholog3.23073144
6MP0010094_abnormal_chromosome_stability3.04672345
7MP0002139_abnormal_hepatobiliary_system2.88942205
8MP0003635_abnormal_synaptic_transmissio2.88806577
9MP0004270_analgesia2.86426595
10MP0004957_abnormal_blastocyst_morpholog2.83739898
11MP0005360_urolithiasis2.76256345
12MP0002822_catalepsy2.75136692
13MP0003111_abnormal_nucleus_morphology2.73262221
14MP0002009_preneoplasia2.62244281
15MP0004130_abnormal_muscle_cell2.50805003
16MP0000751_myopathy2.50434288
17MP0003077_abnormal_cell_cycle2.46555353
18MP0009697_abnormal_copulation2.44498187
19MP0005085_abnormal_gallbladder_physiolo2.41332941
20MP0003693_abnormal_embryo_hatching2.39575819
21MP0003880_abnormal_central_pattern2.36645856
22MP0009780_abnormal_chondrocyte_physiolo2.30453286
23MP0004215_abnormal_myocardial_fiber2.29738238
24MP0003941_abnormal_skin_development2.28503321
25MP0009745_abnormal_behavioral_response2.28133635
26* MP0002063_abnormal_learning/memory/cond2.26623603
27MP0003890_abnormal_embryonic-extraembry2.14025705
28MP0002064_seizures2.12326555
29MP0001730_embryonic_growth_arrest2.11977946
30MP0009046_muscle_twitch2.11349517
31MP0003566_abnormal_cell_adhesion2.09636964
32MP0005365_abnormal_bile_salt2.07270497
33MP0003646_muscle_fatigue1.99122411
34MP0004084_abnormal_cardiac_muscle1.96099417
35MP0008932_abnormal_embryonic_tissue1.92993170
36MP0003329_amyloid_beta_deposits1.89742190
37MP0004036_abnormal_muscle_relaxation1.86019103
38MP0003221_abnormal_cardiomyocyte_apopto1.79094749
39MP0001486_abnormal_startle_reflex1.73976036
40MP0001661_extended_life_span1.72853149
41MP0000350_abnormal_cell_proliferation1.72261992
42MP0002272_abnormal_nervous_system1.71325277
43MP0002734_abnormal_mechanical_nocicepti1.70038754
44* MP0002572_abnormal_emotion/affect_behav1.68242867
45MP0002909_abnormal_adrenal_gland1.67435469
46* MP0001672_abnormal_embryogenesis/_devel1.66943399
47* MP0005380_embryogenesis_phenotype1.66943399
48MP0001968_abnormal_touch/_nociception1.66398991
49MP0010329_abnormal_lipoprotein_level1.65351476
50MP0010678_abnormal_skin_adnexa1.61977721
51* MP0003984_embryonic_growth_retardation1.60996582
52MP0010307_abnormal_tumor_latency1.59203752
53MP0003252_abnormal_bile_duct1.58455089
54MP0005386_behavior/neurological_phenoty1.55810467
55MP0004924_abnormal_behavior1.55810467
56* MP0002088_abnormal_embryonic_growth/wei1.53365840
57MP0005330_cardiomyopathy1.53321717
58MP0004145_abnormal_muscle_electrophysio1.51438693
59* MP0001697_abnormal_embryo_size1.50983136
60MP0003656_abnormal_erythrocyte_physiolo1.49700776
61MP0008875_abnormal_xenobiotic_pharmacok1.47182899
62MP0000747_muscle_weakness1.46620607
63* MP0002084_abnormal_developmental_patter1.45095078
64MP0003137_abnormal_impulse_conducting1.44359724
65MP0005076_abnormal_cell_differentiation1.41696349
66MP0009672_abnormal_birth_weight1.41605510
67MP0008007_abnormal_cellular_replicative1.40924055
68MP0004087_abnormal_muscle_fiber1.40077331
69MP0008569_lethality_at_weaning1.38947971
70MP0002086_abnormal_extraembryonic_tissu1.38303851
71MP0004085_abnormal_heartbeat1.37836820
72MP0005423_abnormal_somatic_nervous1.36893607
73MP0008058_abnormal_DNA_repair1.36099303
74* MP0002080_prenatal_lethality1.35475428
75MP0002396_abnormal_hematopoietic_system1.34362990
76MP0001440_abnormal_grooming_behavior1.34282126
77MP0004811_abnormal_neuron_physiology1.33400405
78MP0010234_abnormal_vibrissa_follicle1.32715967
79MP0005187_abnormal_penis_morphology1.32295580
80MP0008961_abnormal_basal_metabolism1.31502111
81* MP0002067_abnormal_sensory_capabilities1.31337719
82MP0001984_abnormal_olfaction1.31268477
83MP0004233_abnormal_muscle_weight1.31241274
84MP0004197_abnormal_fetal_growth/weight/1.30719505
85MP0005620_abnormal_muscle_contractility1.30525096
86MP0003633_abnormal_nervous_system1.30322037
87MP0005409_darkened_coat_color1.25601024
88MP0000749_muscle_degeneration1.25588957
89MP0002972_abnormal_cardiac_muscle1.22802584
90MP0008775_abnormal_heart_ventricle1.22469076
91MP0003690_abnormal_glial_cell1.20542934
92MP0002269_muscular_atrophy1.20215001
93MP0002735_abnormal_chemical_nociception1.20002426
94MP0000569_abnormal_digit_pigmentation1.19531109
95MP0001501_abnormal_sleep_pattern1.18920999
96MP0005535_abnormal_body_temperature1.18356764
97MP0004808_abnormal_hematopoietic_stem1.18133242
98MP0002118_abnormal_lipid_homeostasis1.15981106
99MP0003950_abnormal_plasma_membrane1.15912200
100MP0002733_abnormal_thermal_nociception1.15792459
101MP0005621_abnormal_cell_physiology1.15737983
102MP0004858_abnormal_nervous_system1.15629442
103MP0005332_abnormal_amino_acid1.14455609
104MP0004484_altered_response_of1.14399744
105MP0005666_abnormal_adipose_tissue1.13330796
106* MP0002085_abnormal_embryonic_tissue1.13196296
107MP0002736_abnormal_nociception_after1.10136456
108MP0000604_amyloidosis1.10111361
109MP0004043_abnormal_pH_regulation1.09886364
110MP0000778_abnormal_nervous_system1.09546577
111MP0004264_abnormal_extraembryonic_tissu1.07744282
112MP0002184_abnormal_innervation1.07193109
113MP0001970_abnormal_pain_threshold1.06754112
114MP0001915_intracranial_hemorrhage1.06378691
115MP0005451_abnormal_body_composition1.06185638
116MP0000013_abnormal_adipose_tissue1.04850369
117* MP0002066_abnormal_motor_capabilities/c1.03310550
118MP0003631_nervous_system_phenotype1.03150475
119MP0000383_abnormal_hair_follicle1.02531823
120MP0004185_abnormal_adipocyte_glucose1.01752066
121MP0003091_abnormal_cell_migration1.01157096
122MP0009703_decreased_birth_body1.00632528
123MP0000537_abnormal_urethra_morphology0.98006894
124MP0003705_abnormal_hypodermis_morpholog0.97648989
125MP0003453_abnormal_keratinocyte_physiol0.97459590
126MP0000955_abnormal_spinal_cord0.97404910
127MP0005584_abnormal_enzyme/coenzyme_acti0.96987261
128MP0002557_abnormal_social/conspecific_i0.96790331
129* MP0005384_cellular_phenotype0.96474068
130MP0008874_decreased_physiological_sensi0.96250932
131MP0000579_abnormal_nail_morphology0.95362977
132MP0005248_abnormal_Harderian_gland0.94881559
133MP0004885_abnormal_endolymph0.94858687
134MP0001727_abnormal_embryo_implantation0.94461875
135MP0002106_abnormal_muscle_physiology0.93756356
136MP0006138_congestive_heart_failure0.93548501
137MP0002078_abnormal_glucose_homeostasis0.92777640
138MP0003806_abnormal_nucleotide_metabolis0.92707217
139MP0006036_abnormal_mitochondrial_physio0.91973356
140MP0005083_abnormal_biliary_tract0.90178149
141MP0002697_abnormal_eye_size0.88663498
142MP0002971_abnormal_brown_adipose0.88004295
143* MP0002882_abnormal_neuron_morphology0.87855953
144MP0002796_impaired_skin_barrier0.87839789
145MP0001544_abnormal_cardiovascular_syste0.87578434
146MP0005385_cardiovascular_system_phenoty0.87578434
147MP0001299_abnormal_eye_distance/0.87407610
148MP0005501_abnormal_skin_physiology0.86986250
149MP0002229_neurodegeneration0.86814982
150MP0003937_abnormal_limbs/digits/tail_de0.86593514
151MP0005375_adipose_tissue_phenotype0.86326729
152MP0010630_abnormal_cardiac_muscle0.86263253
153MP0003868_abnormal_feces_composition0.84367971
154MP0008877_abnormal_DNA_methylation0.84100206
155MP0001666_abnormal_nutrient_absorption0.82465607
156MP0000759_abnormal_skeletal_muscle0.82270310
157MP0000427_abnormal_hair_cycle0.80617340
158MP0004272_abnormal_basement_membrane0.80039490
159MP0000920_abnormal_myelination0.79985367
160MP0000003_abnormal_adipose_tissue0.79262428
161* MP0000428_abnormal_craniofacial_morphol0.79146980
162MP0002006_tumorigenesis0.76825046
163MP0005464_abnormal_platelet_physiology0.76026333
164MP0000313_abnormal_cell_death0.75553097
165MP0000377_abnormal_hair_follicle0.74401382
166* MP0000358_abnormal_cell_content/0.69153978
167MP0000733_abnormal_muscle_development0.66335686
168MP0000266_abnormal_heart_morphology0.65367873
169MP0003718_maternal_effect0.63497466
170MP0002092_abnormal_eye_morphology0.62930024
171MP0001346_abnormal_lacrimal_gland0.62895732
172MP0002166_altered_tumor_susceptibility0.62175104
173MP0001849_ear_inflammation0.61097510

Predicted human phenotypes

RankGene SetZ-score
1Papillary thyroid carcinoma (HP:0002895)4.45910486
2Myokymia (HP:0002411)4.23508383
3Focal motor seizures (HP:0011153)4.10945486
4Sudden death (HP:0001699)3.57362880
5Visual hallucinations (HP:0002367)3.56051061
6Focal seizures (HP:0007359)3.48581745
7Exercise-induced myalgia (HP:0003738)3.48388788
8Abnormality of the left ventricular outflow tract (HP:0011103)3.40057303
9Subaortic stenosis (HP:0001682)3.40057303
10Pheochromocytoma (HP:0002666)3.23056158
11Ankyloglossia (HP:0010296)3.10594319
12Action tremor (HP:0002345)3.09755207
13Dysmetric saccades (HP:0000641)3.06896241
14Thyroid carcinoma (HP:0002890)3.06180732
15Progressive cerebellar ataxia (HP:0002073)3.03937722
16Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.96988975
17Deep philtrum (HP:0002002)2.96947497
18Cortical dysplasia (HP:0002539)2.94575240
19Myoglobinuria (HP:0002913)2.90273144
20Impaired vibration sensation in the lower limbs (HP:0002166)2.88442373
21Neuroendocrine neoplasm (HP:0100634)2.87672444
22Ketoacidosis (HP:0001993)2.84545764
23Increased nuchal translucency (HP:0010880)2.83437463
24Urinary bladder sphincter dysfunction (HP:0002839)2.83416648
25Chromsome breakage (HP:0040012)2.80869676
26Ketosis (HP:0001946)2.78691564
27Urinary urgency (HP:0000012)2.74173305
28Generalized tonic-clonic seizures (HP:0002069)2.71611320
29Bundle branch block (HP:0011710)2.69570243
30Syncope (HP:0001279)2.69140397
31Abnormal social behavior (HP:0012433)2.68817913
32Impaired social interactions (HP:0000735)2.68817913
33Exercise-induced muscle cramps (HP:0003710)2.68672935
34Ventricular fibrillation (HP:0001663)2.68221857
35Absence seizures (HP:0002121)2.66186936
36Hyporeflexia of lower limbs (HP:0002600)2.63258681
37Difficulty running (HP:0009046)2.63218417
38Right ventricular cardiomyopathy (HP:0011663)2.60267043
39Deep venous thrombosis (HP:0002625)2.59593377
40Uterine leiomyosarcoma (HP:0002891)2.59543057
41Leiomyosarcoma (HP:0100243)2.59543057
42Poor eye contact (HP:0000817)2.58174941
43Increased mean platelet volume (HP:0011877)2.56739240
44Abnormality of the lower motor neuron (HP:0002366)2.56394903
45Nephroblastoma (Wilms tumor) (HP:0002667)2.56304629
46Nemaline bodies (HP:0003798)2.54296310
47Dysdiadochokinesis (HP:0002075)2.53235994
48Malignant gastrointestinal tract tumors (HP:0006749)2.51326469
49Gastrointestinal carcinoma (HP:0002672)2.51326469
50Depression (HP:0000716)2.49238664
51Centrally nucleated skeletal muscle fibers (HP:0003687)2.48067629
52Relative macrocephaly (HP:0004482)2.46293699
53Chromosomal breakage induced by crosslinking agents (HP:0003221)2.46057943
54Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.45513683
55Atrial fibrillation (HP:0005110)2.44666097
56Tetraparesis (HP:0002273)2.44522042
57Abnormality of oral frenula (HP:0000190)2.43980876
58Prolonged QT interval (HP:0001657)2.43941750
59Embryonal renal neoplasm (HP:0011794)2.42836757
60Muscle fiber inclusion bodies (HP:0100299)2.42097510
61Hereditary nonpolyposis colorectal carcinoma (HP:0006716)2.41731747
62Atonic seizures (HP:0010819)2.41545245
63Transitional cell carcinoma of the bladder (HP:0006740)2.41437061
64Biliary tract neoplasm (HP:0100574)2.38357773
65Hyperammonemia (HP:0001987)2.38342386
66Postural instability (HP:0002172)2.37963237
67Epileptic encephalopathy (HP:0200134)2.36951770
68Curly hair (HP:0002212)2.36947660
69Primary atrial arrhythmia (HP:0001692)2.36356726
70Hyperventilation (HP:0002883)2.35302325
71Volvulus (HP:0002580)2.34219111
72Asymmetry of the thorax (HP:0001555)2.33430652
73Neoplasm of the small intestine (HP:0100833)2.32902041
74Dialeptic seizures (HP:0011146)2.32102118
75Resting tremor (HP:0002322)2.31671567
76Medulloblastoma (HP:0002885)2.31242839
77Rhabdomyosarcoma (HP:0002859)2.30351172
78Heterotopia (HP:0002282)2.29129731
79Distal lower limb amyotrophy (HP:0008944)2.27965216
80Calf muscle hypertrophy (HP:0008981)2.26780967
81Scanning speech (HP:0002168)2.25362549
82Intrahepatic cholestasis (HP:0001406)2.25114914
83Bladder neoplasm (HP:0009725)2.24479325
84Bladder carcinoma (HP:0002862)2.24479325
85Anxiety (HP:0000739)2.24095926
86Hypoglycemic coma (HP:0001325)2.24021675
87Abnormality of the corticospinal tract (HP:0002492)2.21349134
88Dysmetria (HP:0001310)2.20017340
89Intention tremor (HP:0002080)2.19999425
90Muscle hypertrophy of the lower extremities (HP:0008968)2.19549483
91Epidermoid cyst (HP:0200040)2.18467638
92Supraventricular tachycardia (HP:0004755)2.18306240
93* Termporal pattern (HP:0011008)2.17675578
94* Insidious onset (HP:0003587)2.17675578
95Status epilepticus (HP:0002133)2.16712357
96Torticollis (HP:0000473)2.15139852
97Insomnia (HP:0100785)2.14944688
98Spastic gait (HP:0002064)2.14529396
99Xanthomatosis (HP:0000991)2.14182196
100Supraventricular arrhythmia (HP:0005115)2.13608964
101Neoplasm of the peripheral nervous system (HP:0100007)2.11983377
102Cystic hygroma (HP:0000476)2.11672292
103Cerebral inclusion bodies (HP:0100314)2.10212368
104Ankle clonus (HP:0011448)2.09448536
105Ventricular arrhythmia (HP:0004308)2.09084951
106Acute myeloid leukemia (HP:0004808)2.08184332
107Supranuclear gaze palsy (HP:0000605)2.08064801
108Spastic diplegia (HP:0001264)2.08048826
109Impaired vibratory sensation (HP:0002495)2.07089850
110Abnormal platelet volume (HP:0011876)2.07087660
111Genetic anticipation (HP:0003743)2.06772815
112Abnormality of glycine metabolism (HP:0010895)2.06463203
113Abnormality of serine family amino acid metabolism (HP:0010894)2.06463203
114Autoamputation (HP:0001218)2.05994691
115Pelvic girdle muscle weakness (HP:0003749)2.05857069
116Abnormality of aromatic amino acid family metabolism (HP:0004338)2.05493545
117Febrile seizures (HP:0002373)2.05017384
118Gaze-evoked nystagmus (HP:0000640)2.04925269
119Hypoalphalipoproteinemia (HP:0003233)2.03843795
120Orthostatic hypotension (HP:0001278)2.03546779
121Conjugated hyperbilirubinemia (HP:0002908)2.03204815
122Hamartoma of the eye (HP:0010568)2.02498235
123Truncal ataxia (HP:0002078)2.00861153
124Atrioventricular block (HP:0001678)2.00242926
125Abnormality of the calf musculature (HP:0001430)1.99712058
126Abnormality of chromosome segregation (HP:0002916)1.98318736
127Heart block (HP:0012722)1.97960349
128Broad-based gait (HP:0002136)1.97834594
129Osteolytic defects of the phalanges of the hand (HP:0009771)1.97582042
130Osteolytic defects of the hand bones (HP:0009699)1.97582042
131Hyperglycinuria (HP:0003108)1.97290748
132Skin nodule (HP:0200036)1.96899056
133Uterine neoplasm (HP:0010784)1.96426571
134Hyperglycinemia (HP:0002154)1.96098197
135Lower limb muscle weakness (HP:0007340)1.95509303
136Excessive salivation (HP:0003781)1.94949726
137Drooling (HP:0002307)1.94949726
138Focal dystonia (HP:0004373)1.94759078
139Sandal gap (HP:0001852)1.94281826
140Deviation of the thumb (HP:0009603)1.93978139
141Abnormal EKG (HP:0003115)1.93849282
142Neoplasm of the thyroid gland (HP:0100031)1.93839818
143Cafe-au-lait spot (HP:0000957)1.92547542
144Multiple enchondromatosis (HP:0005701)1.92449930
145Progressive muscle weakness (HP:0003323)1.92304159
146Hyperlipoproteinemia (HP:0010980)1.91541362
147Abnormality of the Achilles tendon (HP:0005109)1.90543607
148Hyperacusis (HP:0010780)1.89827070
149Lower limb amyotrophy (HP:0007210)1.88454062
150EMG: myopathic abnormalities (HP:0003458)1.86959946
151Abnormality of chromosome stability (HP:0003220)1.85830635
152Epileptiform EEG discharges (HP:0011182)1.85544473
153EEG with generalized epileptiform discharges (HP:0011198)1.85488614
154Hemiplegia (HP:0002301)1.85261338
155Rimmed vacuoles (HP:0003805)1.83858536
156Overlapping toe (HP:0001845)1.83330013
157Vertebral arch anomaly (HP:0008438)1.83038259
158Craniofacial dystonia (HP:0012179)1.82432485
159Neoplasm of the rectum (HP:0100743)1.82360340
160Acanthocytosis (HP:0001927)1.81963889
161Abnormality of the musculature of the pelvis (HP:0001469)1.81900578
162Abnormality of the hip-girdle musculature (HP:0001445)1.81900578
163Athetosis (HP:0002305)1.81860376
164Hammertoe (HP:0001765)1.80665770
165Papilledema (HP:0001085)1.79446484
166Proximal placement of thumb (HP:0009623)1.78806773
167Hypsarrhythmia (HP:0002521)1.78262380
168Macroorchidism (HP:0000053)1.77174901
169Shoulder girdle muscle weakness (HP:0003547)1.74675594
170Missing ribs (HP:0000921)1.73470004
171Increased connective tissue (HP:0009025)1.71290423
172Subacute progressive viral hepatitis (HP:0006572)1.68595211
173Microglossia (HP:0000171)1.68332882
174Freckling (HP:0001480)1.68103912
175Cubitus valgus (HP:0002967)1.65143480
176Obsessive-compulsive behavior (HP:0000722)1.64510534
177Ovarian neoplasm (HP:0100615)1.64359172
178Scapular winging (HP:0003691)1.63844064
179Poikilocytosis (HP:0004447)1.61383589
180Prominent nose (HP:0000448)1.61363364
181Menorrhagia (HP:0000132)1.59087955
182Narrow face (HP:0000275)1.56513538
183Lower limb hyperreflexia (HP:0002395)1.55735548

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK13.32364192
2EPHA43.11035069
3NTRK33.07988173
4EEF2K2.88381874
5MAP3K92.84970853
6MAP3K42.82453834
7TTK2.66435188
8MARK12.64980412
9CDC72.32288409
10CDK122.28416155
11LMTK22.28329036
12SRPK12.20802654
13PHKG22.20586141
14PHKG12.20586141
15PBK2.20343534
16TSSK62.19048395
17DAPK22.13787511
18MAP2K42.12257381
19MINK12.11705927
20CAMKK12.10017407
21PAK62.08923836
22EIF2AK32.04656388
23KSR22.01361485
24MAP3K101.98587808
25PKN21.96728005
26NEK11.92064799
27TRIB31.87353481
28PDK41.85810444
29PDK31.85810444
30NEK91.78960551
31BRSK21.61478042
32PRKD31.59289335
33RIPK11.59061025
34TTN1.52333861
35KSR11.49167974
36MST41.48835246
37ERBB31.48705423
38NTRK11.42203409
39MKNK11.41124239
40STK31.40780197
41STK381.38564602
42RPS6KB21.34403342
43BRD41.33557816
44NTRK21.33451858
45LATS11.32803789
46TAF11.32327923
47PLK31.24708075
48PAK31.23586129
49PNCK1.23320941
50MAP2K71.21919256
51RET1.20488820
52BCKDK1.20374754
53PINK11.18510129
54CDK51.17529721
55CAMK1G1.16139768
56SGK2231.15938779
57SGK4941.15938779
58CDK61.14902525
59BUB11.13953838
60SGK31.13685127
61BMPR21.13657875
62OBSCN1.10028970
63FGFR21.08707983
64PLK41.07760084
65MAP3K21.07413967
66MKNK21.05511225
67STK241.05456525
68STK111.05346253
69MAP3K71.03476040
70SGK21.01764514
71RAF10.99330746
72BCR0.97246391
73BRAF0.96992429
74CAMK1D0.96946079
75SCYL20.96187510
76LATS20.95829403
77TYRO30.95715748
78WEE10.95350116
79MST1R0.93536703
80PRKCH0.93528477
81CCNB10.90965716
82PLK10.90240675
83WNK10.88776885
84PRPF4B0.88048572
85DMPK0.87382319
86TRPM70.87184193
87CAMK2A0.86845755
88EIF2AK20.85002881
89PLK20.84833757
90PDK10.84403870
91CAMK2D0.82564862
92CHEK10.82433743
93BMX0.82131703
94PDPK10.82047428
95MET0.82015786
96NEK60.81874558
97PRKAA10.81060060
98STK40.80415346
99SIK10.79863693
100BRSK10.79316657
101SGK10.78759548
102MAP3K60.78142986
103ATM0.77858131
104YES10.77835357
105AURKB0.75794562
106CAMKK20.74910211
107UHMK10.72646381
108RPS6KB10.72063727
109FRK0.70622088
110PDK20.70581588
111CAMK2B0.70493101
112PRKCG0.69942195
113CHEK20.69325834
114SIK20.68916654
115MAPK130.67949456
116DAPK10.67389697
117ERBB40.66764171
118CASK0.65966029
119MTOR0.65664960
120WNK40.63713584
121PDGFRA0.62740041
122STK390.62654821
123TAOK10.62191647
124FGFR30.62081147
125ALK0.61210612
126PRKAA20.61086021
127ATR0.60832483
128RPS6KA30.60448749
129CSNK1E0.59772132
130INSRR0.59733198
131OXSR10.58970507
132CSNK1G20.58745227
133CAMK2G0.58546945
134CDC42BPA0.58214096
135MAP3K130.57955286
136CDK10.57833093
137AKT30.57738975
138PRKD10.57589516
139CAMK10.57401933
140PAK20.56975848
141CLK10.56247291
142NEK20.56209382
143PRKCZ0.55957871
144CDK140.55647626
145RPS6KA40.55615062
146MAP3K80.55092885
147CAMK40.55019595
148FER0.54333511
149PIK3CA0.54152273
150ARAF0.53975766
151GRK50.52976412
152MAP2K10.52871381
153MAPK100.52559505
154STK38L0.52533148
155PTK2B0.52182246
156MAPK120.51449923
157CDK150.51410779
158FGFR10.51296985
159RIPK40.50896646
160CDK20.48792397
161CDK180.48457370
162PRKACG0.47706238
163CDK70.47268006
164ICK0.46728002
165AKT20.46314753
166PAK40.46290437
167FES0.44966866
168MELK0.44482459
169MARK20.43997308
170FYN0.43509239
171PKN10.43155453
172ROCK10.42818790
173PDGFRB0.42015167

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009103.39324088
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.83501268
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.51376683
42-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.28237017
5Cell cycle_Homo sapiens_hsa041102.26574758
6Non-homologous end-joining_Homo sapiens_hsa034502.26121647
7Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.17679891
8Arginine biosynthesis_Homo sapiens_hsa002202.05539958
9Propanoate metabolism_Homo sapiens_hsa006402.04049975
10Fatty acid degradation_Homo sapiens_hsa000711.93497466
11Butanoate metabolism_Homo sapiens_hsa006501.92867494
12Thyroid cancer_Homo sapiens_hsa052161.92378301
13Mismatch repair_Homo sapiens_hsa034301.91453829
14DNA replication_Homo sapiens_hsa030301.81458917
15Primary bile acid biosynthesis_Homo sapiens_hsa001201.81297589
16Olfactory transduction_Homo sapiens_hsa047401.81196945
17Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.73750834
18Adherens junction_Homo sapiens_hsa045201.71137563
19Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.71019966
20Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.70001480
21Fatty acid metabolism_Homo sapiens_hsa012121.67620734
22Endometrial cancer_Homo sapiens_hsa052131.65437739
23Nicotine addiction_Homo sapiens_hsa050331.63342288
24RNA transport_Homo sapiens_hsa030131.62770978
25Chronic myeloid leukemia_Homo sapiens_hsa052201.62366616
26mRNA surveillance pathway_Homo sapiens_hsa030151.61598656
27Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.59296218
28Circadian entrainment_Homo sapiens_hsa047131.59229057
29GABAergic synapse_Homo sapiens_hsa047271.58956630
30Synaptic vesicle cycle_Homo sapiens_hsa047211.56521998
31Non-small cell lung cancer_Homo sapiens_hsa052231.54721292
32Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.54108571
33Long-term potentiation_Homo sapiens_hsa047201.51764361
34Pancreatic cancer_Homo sapiens_hsa052121.49559685
35Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.49162256
36Oocyte meiosis_Homo sapiens_hsa041141.44669219
37Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.42812429
38Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.42789779
39Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.41438680
40Renal cell carcinoma_Homo sapiens_hsa052111.40417033
41Bile secretion_Homo sapiens_hsa049761.40276719
42Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.39258066
43Glutamatergic synapse_Homo sapiens_hsa047241.37537378
44Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.34583309
45Morphine addiction_Homo sapiens_hsa050321.34558648
46Pyruvate metabolism_Homo sapiens_hsa006201.30124250
47Dopaminergic synapse_Homo sapiens_hsa047281.28413081
48Insulin secretion_Homo sapiens_hsa049111.28350066
49Salivary secretion_Homo sapiens_hsa049701.27838476
50Amphetamine addiction_Homo sapiens_hsa050311.26566930
51Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.26505806
52Carbon metabolism_Homo sapiens_hsa012001.25315830
53Colorectal cancer_Homo sapiens_hsa052101.24938572
54PPAR signaling pathway_Homo sapiens_hsa033201.24124817
55Gastric acid secretion_Homo sapiens_hsa049711.23423829
56Aldosterone synthesis and secretion_Homo sapiens_hsa049251.22815146
57Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.21626264
58Renin secretion_Homo sapiens_hsa049241.19791436
59Nucleotide excision repair_Homo sapiens_hsa034201.18500111
60Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.18362725
61MicroRNAs in cancer_Homo sapiens_hsa052061.16192622
62Type II diabetes mellitus_Homo sapiens_hsa049301.15036469
63Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.14214314
64Alcoholism_Homo sapiens_hsa050341.13604943
65Cholinergic synapse_Homo sapiens_hsa047251.12764083
66Tryptophan metabolism_Homo sapiens_hsa003801.10612762
67Dilated cardiomyopathy_Homo sapiens_hsa054141.09373670
68Inositol phosphate metabolism_Homo sapiens_hsa005621.08480373
69Cardiac muscle contraction_Homo sapiens_hsa042601.08278590
70Pentose phosphate pathway_Homo sapiens_hsa000301.08193138
71Viral carcinogenesis_Homo sapiens_hsa052031.07175170
72Oxytocin signaling pathway_Homo sapiens_hsa049211.03149159
73Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.00840838
74Glucagon signaling pathway_Homo sapiens_hsa049221.00122427
75Proteoglycans in cancer_Homo sapiens_hsa052050.98624465
76Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.97989309
77Fatty acid biosynthesis_Homo sapiens_hsa000610.97234992
78Prostate cancer_Homo sapiens_hsa052150.95325456
79Circadian rhythm_Homo sapiens_hsa047100.95226684
80Small cell lung cancer_Homo sapiens_hsa052220.94567638
81Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.92934070
82Spliceosome_Homo sapiens_hsa030400.91965212
83Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.90508947
84Focal adhesion_Homo sapiens_hsa045100.89505783
85Prolactin signaling pathway_Homo sapiens_hsa049170.88472192
86Calcium signaling pathway_Homo sapiens_hsa040200.87702814
87Taste transduction_Homo sapiens_hsa047420.87413484
88Tight junction_Homo sapiens_hsa045300.87279972
89Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.85469192
90Vitamin B6 metabolism_Homo sapiens_hsa007500.85439956
91Platelet activation_Homo sapiens_hsa046110.84165852
92Biosynthesis of amino acids_Homo sapiens_hsa012300.83057791
93cGMP-PKG signaling pathway_Homo sapiens_hsa040220.82659116
94GnRH signaling pathway_Homo sapiens_hsa049120.82454567
95cAMP signaling pathway_Homo sapiens_hsa040240.81701125
96Neurotrophin signaling pathway_Homo sapiens_hsa047220.81281795
97Cysteine and methionine metabolism_Homo sapiens_hsa002700.79734855
98beta-Alanine metabolism_Homo sapiens_hsa004100.78425835
99Hippo signaling pathway_Homo sapiens_hsa043900.78095476
100Gap junction_Homo sapiens_hsa045400.77194240
101Insulin signaling pathway_Homo sapiens_hsa049100.76757667
102Peroxisome_Homo sapiens_hsa041460.75977575
103Long-term depression_Homo sapiens_hsa047300.75707647
104Cocaine addiction_Homo sapiens_hsa050300.75035537
105Insulin resistance_Homo sapiens_hsa049310.73604485
106Starch and sucrose metabolism_Homo sapiens_hsa005000.72665875
107Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.71896237
108Estrogen signaling pathway_Homo sapiens_hsa049150.71745496
109Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.71350392
110Glioma_Homo sapiens_hsa052140.70820141
111Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.70410359
112AMPK signaling pathway_Homo sapiens_hsa041520.70168286
113VEGF signaling pathway_Homo sapiens_hsa043700.69321839
114Dorso-ventral axis formation_Homo sapiens_hsa043200.68990429
115Choline metabolism in cancer_Homo sapiens_hsa052310.68506324
116Regulation of actin cytoskeleton_Homo sapiens_hsa048100.68069224
117Melanoma_Homo sapiens_hsa052180.67270732
118Lysine degradation_Homo sapiens_hsa003100.66971561
119Phosphatidylinositol signaling system_Homo sapiens_hsa040700.66494395
120Glycerolipid metabolism_Homo sapiens_hsa005610.65021089
121p53 signaling pathway_Homo sapiens_hsa041150.64873022
122Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.64008626
123Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.63326102
124FoxO signaling pathway_Homo sapiens_hsa040680.62727284
125One carbon pool by folate_Homo sapiens_hsa006700.61898302
126Thyroid hormone synthesis_Homo sapiens_hsa049180.60596370
127Adipocytokine signaling pathway_Homo sapiens_hsa049200.60463411
128mTOR signaling pathway_Homo sapiens_hsa041500.60458156
129Acute myeloid leukemia_Homo sapiens_hsa052210.60437449
130Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.60016562
131Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.57170379
132HIF-1 signaling pathway_Homo sapiens_hsa040660.56719097
133Carbohydrate digestion and absorption_Homo sapiens_hsa049730.56140826
134Vascular smooth muscle contraction_Homo sapiens_hsa042700.56121864
135AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.56110622
136Serotonergic synapse_Homo sapiens_hsa047260.55565951
137Wnt signaling pathway_Homo sapiens_hsa043100.55298405
138Basal transcription factors_Homo sapiens_hsa030220.55276862
139TGF-beta signaling pathway_Homo sapiens_hsa043500.54920919
140Fatty acid elongation_Homo sapiens_hsa000620.54023703
141Longevity regulating pathway - mammal_Homo sapiens_hsa042110.52951629
142Systemic lupus erythematosus_Homo sapiens_hsa053220.52499674
143Fanconi anemia pathway_Homo sapiens_hsa034600.51460588
144Complement and coagulation cascades_Homo sapiens_hsa046100.50303212
145Bladder cancer_Homo sapiens_hsa052190.50081000
146Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.49970024
147Central carbon metabolism in cancer_Homo sapiens_hsa052300.49777606
148Melanogenesis_Homo sapiens_hsa049160.49059085
149ErbB signaling pathway_Homo sapiens_hsa040120.48605030
150Sphingolipid signaling pathway_Homo sapiens_hsa040710.47986986
151ECM-receptor interaction_Homo sapiens_hsa045120.47141110
152ABC transporters_Homo sapiens_hsa020100.44899492
153Homologous recombination_Homo sapiens_hsa034400.44341172
154Phospholipase D signaling pathway_Homo sapiens_hsa040720.44036087
155Fat digestion and absorption_Homo sapiens_hsa049750.43590060
156Pancreatic secretion_Homo sapiens_hsa049720.42432621
157Thyroid hormone signaling pathway_Homo sapiens_hsa049190.41648862
158Phenylalanine metabolism_Homo sapiens_hsa003600.40929195
159Axon guidance_Homo sapiens_hsa043600.40620974
160Sulfur metabolism_Homo sapiens_hsa009200.38503668
161Tyrosine metabolism_Homo sapiens_hsa003500.33188464

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