PPME1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a protein phosphatase methylesterase localized to the nucleus. The encoded protein acts on the protein phosphatase-2A catalytic subunit and supports the ERK pathway through dephosphorylation of regulatory proteins. It plays a role in malignant glioma progression. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.99738203
2synaptic vesicle docking involved in exocytosis (GO:0016081)6.72777245
3regulation of short-term neuronal synaptic plasticity (GO:0048172)6.46940622
4synaptic vesicle exocytosis (GO:0016079)6.08906595
5glutamate secretion (GO:0014047)6.04216574
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.87286045
7regulation of synaptic vesicle exocytosis (GO:2000300)5.83827678
8locomotory exploration behavior (GO:0035641)5.66690526
9positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.36676023
10regulation of synaptic vesicle transport (GO:1902803)5.23156411
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.71342238
12neurotransmitter secretion (GO:0007269)4.69735531
13vocalization behavior (GO:0071625)4.65035386
14protein localization to synapse (GO:0035418)4.50210584
15regulation of glutamate receptor signaling pathway (GO:1900449)4.49281951
16regulation of synapse structural plasticity (GO:0051823)4.42145369
17response to pheromone (GO:0019236)4.26267370
18regulation of neuronal synaptic plasticity (GO:0048168)4.25733688
19exploration behavior (GO:0035640)4.21414574
20sodium ion export (GO:0071436)4.21394555
21cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.12792652
22COPI coating of Golgi vesicle (GO:0048205)4.10427966
23Golgi transport vesicle coating (GO:0048200)4.10427966
24positive regulation of synapse maturation (GO:0090129)4.07459354
25cellular potassium ion homeostasis (GO:0030007)4.06531444
26layer formation in cerebral cortex (GO:0021819)4.05763967
27activation of protein kinase A activity (GO:0034199)4.04781682
28neuronal action potential propagation (GO:0019227)3.94734107
29cell communication by electrical coupling (GO:0010644)3.93772237
30regulation of long-term neuronal synaptic plasticity (GO:0048169)3.90691108
31proline transport (GO:0015824)3.88620460
32neurotransmitter-gated ion channel clustering (GO:0072578)3.82398390
33synaptic vesicle endocytosis (GO:0048488)3.76394999
34neuromuscular process controlling posture (GO:0050884)3.74558221
35regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.74328188
36positive regulation of membrane potential (GO:0045838)3.62604047
37synaptic transmission, glutamatergic (GO:0035249)3.62355226
38cerebellar Purkinje cell differentiation (GO:0021702)3.57785410
39membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.57760748
40regulation of neurotransmitter secretion (GO:0046928)3.55660503
41positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.55405555
42regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.51514492
43neurotransmitter transport (GO:0006836)3.51459069
44regulation of synaptic plasticity (GO:0048167)3.49738620
45neuromuscular process controlling balance (GO:0050885)3.49265671
46neuron cell-cell adhesion (GO:0007158)3.41726598
47neuron-neuron synaptic transmission (GO:0007270)3.33937323
48positive regulation of synaptic transmission, GABAergic (GO:0032230)3.33656723
49ionotropic glutamate receptor signaling pathway (GO:0035235)3.32147160
50positive regulation of neurotransmitter transport (GO:0051590)3.31563085
51long-term memory (GO:0007616)3.31049937
52regulation of neurotransmitter transport (GO:0051588)3.30159386
53positive regulation of neurotransmitter secretion (GO:0001956)3.28540589
54positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.28182034
55long-term synaptic potentiation (GO:0060291)3.27664152
56innervation (GO:0060384)3.27620680
57regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.25931517
58regulation of excitatory postsynaptic membrane potential (GO:0060079)3.22778698
59vesicle transport along microtubule (GO:0047496)3.22476691
60regulation of neurotransmitter levels (GO:0001505)3.21818415
61regulation of ARF protein signal transduction (GO:0032012)3.14351522
62membrane depolarization during action potential (GO:0086010)3.13721566
63cerebellar Purkinje cell layer development (GO:0021680)3.11303058
64dendritic spine morphogenesis (GO:0060997)3.10460956
65regulation of postsynaptic membrane potential (GO:0060078)3.09986085
66negative regulation of microtubule polymerization (GO:0031115)3.08776590
67mitotic sister chromatid segregation (GO:0000070)3.08037516
68establishment of integrated proviral latency (GO:0075713)3.07864897
69cell migration in hindbrain (GO:0021535)3.07025596
70regulation of vesicle fusion (GO:0031338)3.04943319
71gamma-aminobutyric acid transport (GO:0015812)3.00494596
72membrane repolarization (GO:0086009)2.99747323
73glutamate receptor signaling pathway (GO:0007215)2.99180801
74synaptic vesicle transport (GO:0048489)2.98380601
75establishment of synaptic vesicle localization (GO:0097480)2.98380601
76regulation of synaptic transmission, glutamatergic (GO:0051966)2.97774991
77neuromuscular process (GO:0050905)2.96084688
78positive regulation of synaptic transmission (GO:0050806)2.95652141
79axon cargo transport (GO:0008088)2.94945455
80glycine transport (GO:0015816)2.94164395
81positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.92939007
82membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.90823869
83response to auditory stimulus (GO:0010996)2.90797749
84negative regulation of dendrite morphogenesis (GO:0050774)2.90518918
85calcium ion-dependent exocytosis (GO:0017156)2.90043712
86regulation of dendritic spine morphogenesis (GO:0061001)2.89210743
87regulation of mitotic spindle organization (GO:0060236)2.89182793
88organelle transport along microtubule (GO:0072384)2.88520369
89regulation of synapse maturation (GO:0090128)2.88519490
90membrane hyperpolarization (GO:0060081)2.87687288
91regulation of voltage-gated calcium channel activity (GO:1901385)2.86376143
92glycolytic process (GO:0006096)2.85866507
93adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.85486630
94prepulse inhibition (GO:0060134)2.84944390
95negative regulation of dendrite development (GO:2000171)2.84656319
96regulation of synaptic transmission (GO:0050804)2.84637013
97sister chromatid segregation (GO:0000819)2.83323256
98auditory behavior (GO:0031223)2.82415370
99dendrite morphogenesis (GO:0048813)2.81928901
100proteasome assembly (GO:0043248)2.80412858
101G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.80244092
102regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.79939461
103synaptic transmission (GO:0007268)2.78009437
104establishment of vesicle localization (GO:0051650)2.77008011
105postsynaptic membrane organization (GO:0001941)2.76815833
106regulation of calcium ion-dependent exocytosis (GO:0017158)2.76196125
107potassium ion homeostasis (GO:0055075)2.75234487
108dopamine receptor signaling pathway (GO:0007212)2.75057723
109maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.74986733
110cellular sodium ion homeostasis (GO:0006883)2.74652563
111mitotic chromosome condensation (GO:0007076)2.71327108
112muscle cell cellular homeostasis (GO:0046716)2.64153950
113protein retention in ER lumen (GO:0006621)2.62402718
114regulation of spindle organization (GO:0090224)2.60463496
115mitotic metaphase plate congression (GO:0007080)2.55870952
116retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.55304387
117protein maturation by protein folding (GO:0022417)2.53700242
118cell adhesion mediated by integrin (GO:0033627)2.51555791
119cullin deneddylation (GO:0010388)2.48407494
120L-serine transport (GO:0015825)2.47317271
121establishment of viral latency (GO:0019043)2.46406713
122response to gravity (GO:0009629)2.42333954
123ribosome assembly (GO:0042255)2.41474940
124de novo posttranslational protein folding (GO:0051084)2.40988683
125mitotic nuclear envelope reassembly (GO:0007084)2.37184223
126nuclear envelope reassembly (GO:0031468)2.37184223
127ventricular cardiac muscle cell development (GO:0055015)2.35638615
128tRNA aminoacylation for protein translation (GO:0006418)2.33793231
129de novo protein folding (GO:0006458)2.32481070
130vesicle coating (GO:0006901)2.32249346
131protein deneddylation (GO:0000338)2.31938388
132positive regulation of actin filament depolymerization (GO:0030836)2.30511927
133protein depolymerization (GO:0051261)2.25679757
134anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.25660704
135regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.25088375
136paraxial mesoderm development (GO:0048339)2.24507657
137actin filament depolymerization (GO:0030042)2.24463528
138metaphase plate congression (GO:0051310)2.22779243
139amino acid activation (GO:0043038)2.21855340
140tRNA aminoacylation (GO:0043039)2.21855340
141gluconeogenesis (GO:0006094)2.21462178
142hippo signaling (GO:0035329)2.21195038
143regulation of integrin-mediated signaling pathway (GO:2001044)2.20860745
144nucleobase-containing small molecule interconversion (GO:0015949)2.19900456
145positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.19882014
146protein localization to chromosome, centromeric region (GO:0071459)2.19582901
147protein localization to kinetochore (GO:0034501)2.18785028
148protein hydroxylation (GO:0018126)2.18145649
149regulation of coenzyme metabolic process (GO:0051196)2.17695317
150regulation of cofactor metabolic process (GO:0051193)2.17695317
151peptidyl-proline hydroxylation (GO:0019511)2.16572089
152histone H2A acetylation (GO:0043968)2.15952598
153protein heterotetramerization (GO:0051290)2.15488307
154microtubule depolymerization (GO:0007019)2.14388763
155lipopolysaccharide biosynthetic process (GO:0009103)2.13805103
1564-hydroxyproline metabolic process (GO:0019471)2.12478129
157tricarboxylic acid cycle (GO:0006099)2.12014643
158mitotic cytokinesis (GO:0000281)2.11283860
159peptidyl-cysteine modification (GO:0018198)2.11019652
160positive regulation of DNA-dependent DNA replication (GO:2000105)2.10140637
161membrane assembly (GO:0071709)2.09844378
162COPII vesicle coating (GO:0048208)2.09112148
163regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.07997855
164nuclear pore complex assembly (GO:0051292)2.05412467
165positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.04499764
166pyruvate metabolic process (GO:0006090)2.04111380
167hexose biosynthetic process (GO:0019319)2.03214334
168skin morphogenesis (GO:0043589)2.01941531
169mitotic spindle organization (GO:0007052)2.01756446
170nuclear pore organization (GO:0006999)2.01041762
171positive regulation of mitochondrial fission (GO:0090141)1.98030400
172regulation of translational fidelity (GO:0006450)1.96857090
173establishment of chromosome localization (GO:0051303)1.95572348
174cytoskeletal anchoring at plasma membrane (GO:0007016)1.95278431
175negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)1.95118179
176cytoskeleton-dependent cytokinesis (GO:0061640)1.94895217
177positive regulation of cell size (GO:0045793)1.94589451
178positive regulation of ubiquitin-protein transferase activity (GO:0051443)1.92989821
179DNA unwinding involved in DNA replication (GO:0006268)1.88428599
180protoporphyrinogen IX metabolic process (GO:0046501)1.87891103
181mitotic sister chromatid cohesion (GO:0007064)1.86830364
182negative regulation of ligase activity (GO:0051352)1.86622352
183negative regulation of ubiquitin-protein transferase activity (GO:0051444)1.86622352
184regulation of ubiquitin-protein transferase activity (GO:0051438)1.85677125
185positive regulation of dendritic spine morphogenesis (GO:0061003)1.84291897
186chromosome condensation (GO:0030261)1.84132334
187glucose 6-phosphate metabolic process (GO:0051156)1.84106394
188deoxyribonucleotide biosynthetic process (GO:0009263)1.83875818
189regulation of cellular amino acid metabolic process (GO:0006521)1.83833072
190regulation of vascular endothelial growth factor signaling pathway (GO:1900746)1.82738830

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.16492507
2FOXM1_23109430_ChIP-Seq_U2OS_Human3.95539306
3RARB_27405468_Chip-Seq_BRAIN_Mouse3.41268820
4REST_21632747_ChIP-Seq_MESCs_Mouse3.07619996
5E2F7_22180533_ChIP-Seq_HELA_Human3.06917789
6EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse3.06872789
7MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse3.02571221
8KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.85448133
9* REST_18959480_ChIP-ChIP_MESCs_Mouse2.82798273
10SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.80323973
11MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.73214831
12FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.72586200
13SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.71599202
14CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.70553661
15DROSHA_22980978_ChIP-Seq_HELA_Human2.60146578
16GBX2_23144817_ChIP-Seq_PC3_Human2.57702082
17JARID2_20064375_ChIP-Seq_MESCs_Mouse2.54909532
18NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.53003612
19JARID2_20075857_ChIP-Seq_MESCs_Mouse2.52707213
20* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.49143799
21* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.49143799
22SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.47476830
23AR_21909140_ChIP-Seq_LNCAP_Human2.44073917
24HIF1A_21447827_ChIP-Seq_MCF-7_Human2.43853392
25MTF2_20144788_ChIP-Seq_MESCs_Mouse2.37166948
26* THAP11_20581084_ChIP-Seq_MESCs_Mouse2.34838005
27TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.26353625
28* HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.24533156
29MYC_18555785_ChIP-Seq_MESCs_Mouse2.22112103
30EZH2_27294783_Chip-Seq_ESCs_Mouse2.20698909
31EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.17153675
32PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.16760132
33ZFP281_18757296_ChIP-ChIP_E14_Mouse2.16213413
34SUZ12_27294783_Chip-Seq_ESCs_Mouse2.16174794
35SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.15915764
36JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.11046054
37SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.10768453
38CREB1_15753290_ChIP-ChIP_HEK293T_Human2.10068758
39* GABP_17652178_ChIP-ChIP_JURKAT_Human2.07758628
40SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.06600364
41RNF2_27304074_Chip-Seq_ESCs_Mouse2.05473733
42EZH2_27304074_Chip-Seq_ESCs_Mouse2.03198842
43NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.02259524
44TRIM28_21343339_ChIP-Seq_HEK293_Human2.02139314
45PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.96826250
46KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.94045573
47DCP1A_22483619_ChIP-Seq_HELA_Human1.93663776
48IKZF1_21737484_ChIP-ChIP_HCT116_Human1.89990283
49CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.89459131
50DNAJC2_21179169_ChIP-ChIP_NT2_Human1.88464535
51ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.88439154
52ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.87153126
53* E2F4_17652178_ChIP-ChIP_JURKAT_Human1.85928752
54NELFA_20434984_ChIP-Seq_ESCs_Mouse1.82276684
55ETS1_20019798_ChIP-Seq_JURKAT_Human1.81611065
56* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.78407112
57RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.75209412
58RBPJ_22232070_ChIP-Seq_NCS_Mouse1.74965422
59KDM2B_26808549_Chip-Seq_K562_Human1.72197833
60EED_16625203_ChIP-ChIP_MESCs_Mouse1.70785351
61MYC_18358816_ChIP-ChIP_MESCs_Mouse1.68570779
62MYC_19030024_ChIP-ChIP_MESCs_Mouse1.67905874
63MYCN_18555785_ChIP-Seq_MESCs_Mouse1.65498537
64WT1_19549856_ChIP-ChIP_CCG9911_Human1.65312475
65* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.65063276
66GABP_19822575_ChIP-Seq_HepG2_Human1.64526211
67ERG_21242973_ChIP-ChIP_JURKAT_Human1.64181772
68* EST1_17652178_ChIP-ChIP_JURKAT_Human1.63674050
69PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.62653648
70ZNF263_19887448_ChIP-Seq_K562_Human1.60727723
71* XRN2_22483619_ChIP-Seq_HELA_Human1.59460211
72YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.58467352
73* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.56199640
74* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.53683982
75WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.53299337
76SMAD_19615063_ChIP-ChIP_OVARY_Human1.51159535
77CLOCK_20551151_ChIP-Seq_293T_Human1.50703258
78TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.49937383
79ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.49534764
80DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.48318023
81CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.45846923
82MYC_19079543_ChIP-ChIP_MESCs_Mouse1.45710001
83DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.45291738
84SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.43686230
85ELK1_19687146_ChIP-ChIP_HELA_Human1.43530825
86DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.41370418
87ZNF274_21170338_ChIP-Seq_K562_Hela1.39516077
88* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.39400140
89AR_21572438_ChIP-Seq_LNCaP_Human1.38678863
90ZFP281_27345836_Chip-Seq_ESCs_Mouse1.36945433
91* TET1_21490601_ChIP-Seq_MESCs_Mouse1.35806510
92KDM2B_26808549_Chip-Seq_SUP-B15_Human1.33553402
93GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.33499919
94TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.33044719
95SALL1_21062744_ChIP-ChIP_HESCs_Human1.32583194
96POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.31858592
97NR3C1_23031785_ChIP-Seq_PC12_Mouse1.31642449
98TTF2_22483619_ChIP-Seq_HELA_Human1.31219879
99RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.30880866
100RING1B_27294783_Chip-Seq_ESCs_Mouse1.29845007
101GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.29377146
102PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.28246269
103E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.27553376
104AR_19668381_ChIP-Seq_PC3_Human1.27492181
105* SOX17_20123909_ChIP-Seq_XEN_Mouse1.26246749
106ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.26079459
107TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.25806570
108TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.24926371
109MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.24492761
110SMC4_20622854_ChIP-Seq_HELA_Human1.23660915
111SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.22293216
112SOX2_21211035_ChIP-Seq_LN229_Gbm1.22045369
113CTBP2_25329375_ChIP-Seq_LNCAP_Human1.21912918
114WT1_25993318_ChIP-Seq_PODOCYTE_Human1.21857967
115LXR_22292898_ChIP-Seq_THP-1_Human1.21191851
116SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.20374941
117HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.17997519
118CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.16685742
119NANOG_18555785_ChIP-Seq_MESCs_Mouse1.15685831
120TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.15337944
121SRF_21415370_ChIP-Seq_HL-1_Mouse1.14671587
122KDM2B_26808549_Chip-Seq_DND41_Human1.14402816
123SMAD4_21799915_ChIP-Seq_A2780_Human1.14263916
124PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.13467674
125POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.12899296
126* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.11375948
127OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.10085606
128MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.09851340
129E2F1_21310950_ChIP-Seq_MCF-7_Human1.09712733
130FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.06675323
131ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.05887030
132SOX9_26525672_Chip-Seq_HEART_Mouse1.05777371
133SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.04123291
134P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03975182
135KLF4_18555785_ChIP-Seq_MESCs_Mouse1.03735537
136CTCF_27219007_Chip-Seq_Bcells_Human1.03329870
137* NANOG_21062744_ChIP-ChIP_HESCs_Human1.03098930
138RING1B_27294783_Chip-Seq_NPCs_Mouse1.02198141
139CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.02178946
140SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.01719240
141YAP1_20516196_ChIP-Seq_MESCs_Mouse1.01439574
142KDM2B_26808549_Chip-Seq_JURKAT_Human1.00197471
143NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.00097322
144TBX5_21415370_ChIP-Seq_HL-1_Mouse0.99990872
145OCT4_19829295_ChIP-Seq_ESCs_Human0.97378332
146BRD4_25478319_ChIP-Seq_HGPS_Human0.96919584
147SMAD3_21741376_ChIP-Seq_ESCs_Human0.96529700
148STAT3_23295773_ChIP-Seq_U87_Human0.96235271
149SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.95717665
150EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.95667080
151KDM5A_27292631_Chip-Seq_BREAST_Human0.95660565
152TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.95394496
153EOMES_21245162_ChIP-Seq_HESCs_Human0.94770738
154TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.94084504
155YY1_21170310_ChIP-Seq_MESCs_Mouse0.94040780
156SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93179830
157KLF4_19829295_ChIP-Seq_ESCs_Human0.92452553
158THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.90069391
159SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.90063593
160* SMAD4_21741376_ChIP-Seq_ESCs_Human0.89816633
161TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.85711503
162TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.85675331
163HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.85244131
164CREB1_26743006_Chip-Seq_LNCaP_Human0.84911830
165PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.84884290
166SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.84628059
167SMAD4_21741376_ChIP-Seq_HESCs_Human0.84438055
168CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.84343149
169TP53_23651856_ChIP-Seq_MEFs_Mouse0.84158174
170P68_20966046_ChIP-Seq_HELA_Human0.83061392
171NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.80933254
172SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.80612842
173SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.80612842
174AR_25329375_ChIP-Seq_VCAP_Human0.80219737
175ATF3_27146783_Chip-Seq_COLON_Human0.79265347
176MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.79104243
177KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.78897591
178ELF1_20517297_ChIP-Seq_JURKAT_Human0.78779041
179HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.78473675
180* GATA4_21415370_ChIP-Seq_HL-1_Mouse0.78251250
181SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.77806632
182* ELK1_22589737_ChIP-Seq_MCF10A_Human0.77783987
183CTNNB1_20460455_ChIP-Seq_HCT116_Human0.74895630
184SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.74013017
185MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.73218978
186TP53_20018659_ChIP-ChIP_R1E_Mouse0.72634677
187ELK4_26923725_Chip-Seq_MESODERM_Mouse0.71855098
188MITF_21258399_ChIP-Seq_MELANOMA_Human0.71474054

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.72382907
2MP0003635_abnormal_synaptic_transmissio4.00400357
3MP0004270_analgesia3.66710395
4MP0003880_abnormal_central_pattern3.54870339
5MP0002063_abnormal_learning/memory/cond3.16741534
6MP0003950_abnormal_plasma_membrane3.10112902
7MP0001968_abnormal_touch/_nociception3.04324128
8MP0009745_abnormal_behavioral_response2.92234429
9MP0002064_seizures2.83632664
10MP0009046_muscle_twitch2.70759741
11MP0002734_abnormal_mechanical_nocicepti2.58941314
12MP0004858_abnormal_nervous_system2.57875682
13MP0002572_abnormal_emotion/affect_behav2.47428855
14MP0002736_abnormal_nociception_after2.41305825
15MP0002909_abnormal_adrenal_gland2.39650613
16MP0005423_abnormal_somatic_nervous2.35838573
17MP0009780_abnormal_chondrocyte_physiolo2.35613181
18MP0002822_catalepsy2.27176840
19MP0002272_abnormal_nervous_system2.24360906
20MP0002735_abnormal_chemical_nociception2.14007683
21MP0004811_abnormal_neuron_physiology2.12862386
22MP0000749_muscle_degeneration2.08381582
23MP0002733_abnormal_thermal_nociception2.06621306
24MP0003329_amyloid_beta_deposits1.97380190
25MP0001486_abnormal_startle_reflex1.96507446
26MP0003122_maternal_imprinting1.95330991
27MP0003787_abnormal_imprinting1.94251685
28MP0005257_abnormal_intraocular_pressure1.93918327
29MP0001970_abnormal_pain_threshold1.91726688
30MP0004272_abnormal_basement_membrane1.91217734
31MP0008438_abnormal_cutaneous_collagen1.90626493
32MP0008569_lethality_at_weaning1.86884920
33MP0004233_abnormal_muscle_weight1.84542538
34MP0008961_abnormal_basal_metabolism1.79736061
35MP0002067_abnormal_sensory_capabilities1.74713638
36MP0001501_abnormal_sleep_pattern1.74114811
37MP0002184_abnormal_innervation1.73454903
38MP0001299_abnormal_eye_distance/1.73043672
39MP0003879_abnormal_hair_cell1.72788556
40MP0005646_abnormal_pituitary_gland1.70670818
41MP0001984_abnormal_olfaction1.66925330
42MP0002877_abnormal_melanocyte_morpholog1.65094119
43MP0000955_abnormal_spinal_cord1.61975038
44MP0000013_abnormal_adipose_tissue1.60681769
45MP0002557_abnormal_social/conspecific_i1.60491360
46MP0003283_abnormal_digestive_organ1.55505652
47MP0003566_abnormal_cell_adhesion1.53004975
48MP0001502_abnormal_circadian_rhythm1.49077268
49MP0008932_abnormal_embryonic_tissue1.48896729
50MP0002653_abnormal_ependyma_morphology1.48066460
51MP0010234_abnormal_vibrissa_follicle1.47233450
52MP0001440_abnormal_grooming_behavior1.45002374
53MP0004924_abnormal_behavior1.43913915
54MP0005386_behavior/neurological_phenoty1.43913915
55MP0008058_abnormal_DNA_repair1.43729468
56MP0003941_abnormal_skin_development1.43471302
57MP0003123_paternal_imprinting1.42600822
58MP0010030_abnormal_orbit_morphology1.41583477
59MP0003385_abnormal_body_wall1.37951559
60MP0002882_abnormal_neuron_morphology1.35766579
61MP0005645_abnormal_hypothalamus_physiol1.34664189
62MP0010094_abnormal_chromosome_stability1.34628069
63MP0000751_myopathy1.33611863
64MP0002102_abnormal_ear_morphology1.31255894
65MP0002066_abnormal_motor_capabilities/c1.30468435
66MP0004957_abnormal_blastocyst_morpholog1.28404115
67MP0003111_abnormal_nucleus_morphology1.26208813
68MP0000778_abnormal_nervous_system1.25062406
69MP0003693_abnormal_embryo_hatching1.18216173
70MP0000762_abnormal_tongue_morphology1.17816371
71MP0002938_white_spotting1.16950130
72MP0006276_abnormal_autonomic_nervous1.16744296
73MP0000647_abnormal_sebaceous_gland1.15960136
74MP0003942_abnormal_urinary_system1.12516306
75MP0005171_absent_coat_pigmentation1.12280473
76MP0003633_abnormal_nervous_system1.11860867
77MP0003755_abnormal_palate_morphology1.11340593
78MP0002152_abnormal_brain_morphology1.08569888
79MP0004885_abnormal_endolymph1.06915362
80MP0003121_genomic_imprinting1.05743596
81MP0003077_abnormal_cell_cycle1.04815817
82MP0008789_abnormal_olfactory_epithelium1.03171659
83MP0002177_abnormal_outer_ear0.99775190
84MP0000537_abnormal_urethra_morphology0.98667673
85MP0003718_maternal_effect0.97946870
86MP0010386_abnormal_urinary_bladder0.96168971
87MP0004145_abnormal_muscle_electrophysio0.95263767
88MP0000372_irregular_coat_pigmentation0.94595111
89MP0005394_taste/olfaction_phenotype0.94518266
90MP0005499_abnormal_olfactory_system0.94518266
91MP0003705_abnormal_hypodermis_morpholog0.94235655
92MP0000759_abnormal_skeletal_muscle0.91862727
93MP0005551_abnormal_eye_electrophysiolog0.91596696
94MP0003631_nervous_system_phenotype0.91206387
95MP0002295_abnormal_pulmonary_circulatio0.91137792
96* MP0002069_abnormal_eating/drinking_beha0.89940646
97MP0002638_abnormal_pupillary_reflex0.89838470
98MP0010352_gastrointestinal_tract_polyps0.89703595
99MP0008007_abnormal_cellular_replicative0.88767539
100MP0008877_abnormal_DNA_methylation0.88603081
101MP0005623_abnormal_meninges_morphology0.87995021
102MP0004215_abnormal_myocardial_fiber0.86601348
103MP0002837_dystrophic_cardiac_calcinosis0.85761931
104MP0008872_abnormal_physiological_respon0.85481761
105MP0003075_altered_response_to0.85122088
106MP0003937_abnormal_limbs/digits/tail_de0.84757523
107MP0003646_muscle_fatigue0.84712109
108MP0004085_abnormal_heartbeat0.83558118
109MP0005408_hypopigmentation0.83049488
110MP0002229_neurodegeneration0.82096955
111MP0000579_abnormal_nail_morphology0.82041997
112MP0006072_abnormal_retinal_apoptosis0.81303071
113MP0000358_abnormal_cell_content/0.81073668
114MP0002269_muscular_atrophy0.79807472
115MP0003183_abnormal_peptide_metabolism0.79565747
116MP0002084_abnormal_developmental_patter0.79503687
117MP0002090_abnormal_vision0.79434738
118MP0003172_abnormal_lysosome_physiology0.79313161
119MP0002089_abnormal_postnatal_growth/wei0.79062443
120MP0009697_abnormal_copulation0.78311578
121MP0002085_abnormal_embryonic_tissue0.77980812
122MP0001730_embryonic_growth_arrest0.76762053
123MP0002697_abnormal_eye_size0.75978980
124MP0003119_abnormal_digestive_system0.75500423
125MP0002233_abnormal_nose_morphology0.75226968
126MP0002080_prenatal_lethality0.75117499
127MP0001697_abnormal_embryo_size0.74205338
128MP0004197_abnormal_fetal_growth/weight/0.73892805
129MP0000569_abnormal_digit_pigmentation0.73468492
130MP0000631_abnormal_neuroendocrine_gland0.73227996
131MP0000733_abnormal_muscle_development0.72941670
132MP0003186_abnormal_redox_activity0.72389439
133MP0001529_abnormal_vocalization0.72192284
134MP0004142_abnormal_muscle_tone0.71575513
135MP0004130_abnormal_muscle_cell0.71325712
136* MP0002081_perinatal_lethality0.70631938
137MP0000604_amyloidosis0.70580684
138MP0002234_abnormal_pharynx_morphology0.70456680
139MP0005187_abnormal_penis_morphology0.70380196
140MP0005501_abnormal_skin_physiology0.70038700
141MP0003935_abnormal_craniofacial_develop0.70022850
142MP0000003_abnormal_adipose_tissue0.69225675
143MP0001286_abnormal_eye_development0.69209733
144MP0000350_abnormal_cell_proliferation0.69037546
145MP0004043_abnormal_pH_regulation0.68288164
146MP0000750_abnormal_muscle_regeneration0.68281708
147MP0000747_muscle_weakness0.68102842
148MP0001188_hyperpigmentation0.67715310
149MP0008874_decreased_physiological_sensi0.67192946
150MP0005535_abnormal_body_temperature0.67167544
151MP0000534_abnormal_ureter_morphology0.65111838
152MP0003137_abnormal_impulse_conducting0.65084044
153MP0003634_abnormal_glial_cell0.63572463
154MP0002752_abnormal_somatic_nervous0.63450884
155MP0003861_abnormal_nervous_system0.60866487
156MP0010769_abnormal_survival0.58971252
157MP0002751_abnormal_autonomic_nervous0.57902662
158MP0004510_myositis0.57545652
159MP0003632_abnormal_nervous_system0.56894347
160MP0001348_abnormal_lacrimal_gland0.56877192

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)6.08411825
2Focal motor seizures (HP:0011153)5.42690123
3Visual hallucinations (HP:0002367)4.81734069
4Focal seizures (HP:0007359)4.43542153
5Epileptic encephalopathy (HP:0200134)4.02667685
6Abnormality of the lower motor neuron (HP:0002366)3.98731651
7Ankle clonus (HP:0011448)3.92379302
8Abnormality of glycolysis (HP:0004366)3.80377263
9Atonic seizures (HP:0010819)3.71824341
10Cholecystitis (HP:0001082)3.69156273
11Abnormal gallbladder physiology (HP:0012438)3.69156273
12Premature rupture of membranes (HP:0001788)3.64696357
13Action tremor (HP:0002345)3.57265168
14Depression (HP:0000716)3.52691231
15Progressive cerebellar ataxia (HP:0002073)3.50631818
16Febrile seizures (HP:0002373)3.42531572
17Impaired vibration sensation in the lower limbs (HP:0002166)3.30330157
18Absence seizures (HP:0002121)3.22919047
19Increased serum pyruvate (HP:0003542)3.10612453
20Mutism (HP:0002300)3.07314900
21Generalized tonic-clonic seizures (HP:0002069)3.04232981
22Supranuclear gaze palsy (HP:0000605)3.00727956
23Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.95375001
24Urinary bladder sphincter dysfunction (HP:0002839)2.92485791
25Poor eye contact (HP:0000817)2.87102940
26Abnormal eating behavior (HP:0100738)2.86481345
27Urinary urgency (HP:0000012)2.84760206
28Dialeptic seizures (HP:0011146)2.84660218
29Dysdiadochokinesis (HP:0002075)2.82260281
30Truncal ataxia (HP:0002078)2.81289488
31Genetic anticipation (HP:0003743)2.79975153
32Papilledema (HP:0001085)2.76718201
33Agitation (HP:0000713)2.74316354
34Impaired smooth pursuit (HP:0007772)2.72855172
35Postural instability (HP:0002172)2.71713962
36Ventricular fibrillation (HP:0001663)2.71147489
37Pheochromocytoma (HP:0002666)2.70377360
38Pointed chin (HP:0000307)2.70348253
39Torticollis (HP:0000473)2.66361192
40Dysmetric saccades (HP:0000641)2.65147092
41Anxiety (HP:0000739)2.58029742
42Popliteal pterygium (HP:0009756)2.57698214
43Insomnia (HP:0100785)2.56956398
44Abnormal social behavior (HP:0012433)2.56202750
45Impaired social interactions (HP:0000735)2.56202750
46Gaze-evoked nystagmus (HP:0000640)2.54199926
47Annular pancreas (HP:0001734)2.50933295
48Focal dystonia (HP:0004373)2.46436675
49Hypercortisolism (HP:0001578)2.46288046
50Bundle branch block (HP:0011710)2.44467013
51Pterygium (HP:0001059)2.43996415
52Failure to thrive in infancy (HP:0001531)2.40464751
53Cortical dysplasia (HP:0002539)2.37613926
54Abnormality of ocular smooth pursuit (HP:0000617)2.33845653
55Neuroendocrine neoplasm (HP:0100634)2.33816230
56Spastic gait (HP:0002064)2.33394787
57Abnormality of dentin (HP:0010299)2.33090384
58Amniotic constriction ring (HP:0009775)2.32843079
59Abnormality of placental membranes (HP:0011409)2.32843079
60Type 2 muscle fiber atrophy (HP:0003554)2.32253242
61Dysmetria (HP:0001310)2.31639295
62Epileptiform EEG discharges (HP:0011182)2.30587391
63Upper limb muscle weakness (HP:0003484)2.29939331
64Bradykinesia (HP:0002067)2.29835674
65Amblyopia (HP:0000646)2.28063111
66Spinal canal stenosis (HP:0003416)2.25056438
67EEG with generalized epileptiform discharges (HP:0011198)2.25055556
68Polyphagia (HP:0002591)2.24112206
69Craniofacial dystonia (HP:0012179)2.23111559
70Neoplasm of the peripheral nervous system (HP:0100007)2.23075716
71Menstrual irregularities (HP:0000858)2.22268001
72Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.21909583
73Clonus (HP:0002169)2.21431921
74Delayed gross motor development (HP:0002194)2.19744429
75Muscle fiber atrophy (HP:0100295)2.19328195
76Hand muscle atrophy (HP:0009130)2.18002270
77Hyperacusis (HP:0010780)2.17386271
78Hypsarrhythmia (HP:0002521)2.16921031
79Impaired vibratory sensation (HP:0002495)2.14692095
80Upper limb amyotrophy (HP:0009129)2.13482102
81Distal upper limb amyotrophy (HP:0007149)2.13482102
82Hemiplegia (HP:0002301)2.12312838
83Lower limb muscle weakness (HP:0007340)2.11194199
84Abnormality of pain sensation (HP:0010832)2.09115346
85Impaired pain sensation (HP:0007328)2.09115346
86Hypoventilation (HP:0002791)2.07817127
87Aortic dissection (HP:0002647)2.07422612
88Akinesia (HP:0002304)2.06989498
89Megalencephaly (HP:0001355)2.04534368
90Apathy (HP:0000741)2.04104801
91Stereotypic behavior (HP:0000733)2.03983045
92Fetal akinesia sequence (HP:0001989)2.03773134
93Broad-based gait (HP:0002136)2.02303174
94Resting tremor (HP:0002322)1.98869842
95Scanning speech (HP:0002168)1.98373616
96Limb-girdle muscle atrophy (HP:0003797)1.96980520
97Intellectual disability, profound (HP:0002187)1.94359219
98Striae distensae (HP:0001065)1.92325401
99Abnormality of the astrocytes (HP:0100707)1.91458086
100Astrocytoma (HP:0009592)1.91458086
101Central scotoma (HP:0000603)1.91342125
102Prominent metopic ridge (HP:0005487)1.91291253
103Insidious onset (HP:0003587)1.88765300
104Termporal pattern (HP:0011008)1.88765300
105Neoplasm of the heart (HP:0100544)1.87984710
106Deep palmar crease (HP:0006191)1.86507459
107Diminished motivation (HP:0000745)1.86108241
108Rapidly progressive (HP:0003678)1.85964316
109Thin ribs (HP:0000883)1.84216645
110Amyotrophic lateral sclerosis (HP:0007354)1.83535544
111Poor suck (HP:0002033)1.83495618
112Shoulder girdle muscle weakness (HP:0003547)1.83313733
113Entropion (HP:0000621)1.83084243
114Protrusio acetabuli (HP:0003179)1.83082185
115Status epilepticus (HP:0002133)1.82979380
116Abnormal auditory evoked potentials (HP:0006958)1.82867604
117Abnormal EKG (HP:0003115)1.82441025
118Postnatal microcephaly (HP:0005484)1.82254797
119Abnormality of the neuromuscular junction (HP:0003398)1.82086254
120Fatigable weakness (HP:0003473)1.82086254
121Abnormality of the hip-girdle musculature (HP:0001445)1.81580345
122Abnormality of the musculature of the pelvis (HP:0001469)1.81580345
123Unsteady gait (HP:0002317)1.81465827
124Drooling (HP:0002307)1.80546530
125Excessive salivation (HP:0003781)1.80546530
126Cholelithiasis (HP:0001081)1.79654287
127Arterial tortuosity (HP:0005116)1.79635255
128Limb dystonia (HP:0002451)1.79159269
129Hypokinesia (HP:0002375)1.78206375
130Exercise-induced myalgia (HP:0003738)1.78069658
131Cerebral hypomyelination (HP:0006808)1.77926305
132Ependymoma (HP:0002888)1.75018843
133Delusions (HP:0000746)1.74028470
134Cerebral aneurysm (HP:0004944)1.73933754
135Elfin facies (HP:0004428)1.73826923
136Incomplete penetrance (HP:0003829)1.73042004
137Hemiparesis (HP:0001269)1.71700710
138Diminished movement (HP:0002374)1.70444577
139Abnormal gallbladder morphology (HP:0012437)1.68882319
140Cutaneous melanoma (HP:0012056)1.68176920
141Abnormality of the metopic suture (HP:0005556)1.67454519
142Limb-girdle muscle weakness (HP:0003325)1.67427742
143Increased nuchal translucency (HP:0010880)1.67167301
144Ankle contracture (HP:0006466)1.67012651
145Vascular tortuosity (HP:0004948)1.65281691
146Weak cry (HP:0001612)1.64636047
147Gowers sign (HP:0003391)1.62814901
148Hypoplasia of the capital femoral epiphysis (HP:0003090)1.61869831
149Abnormalities of placenta or umbilical cord (HP:0001194)1.61429896
150Overlapping toe (HP:0001845)1.60887021
151Trismus (HP:0000211)1.56926644
152Long toe (HP:0010511)1.56250836
153Horizontal nystagmus (HP:0000666)1.55593365
154Breech presentation (HP:0001623)1.54640807
155Glossoptosis (HP:0000162)1.54626912
156CNS hypomyelination (HP:0003429)1.54583795
157Heterochromia iridis (HP:0001100)1.54426248
158Bowel diverticulosis (HP:0005222)1.54032023
159Bladder diverticulum (HP:0000015)1.52469379
160Abnormality of the umbilical cord (HP:0010881)1.51311866
161Soft skin (HP:0000977)1.51197475
162Ulnar bowing (HP:0003031)1.49005893
163Exercise-induced muscle cramps (HP:0003710)1.48865403
164Degeneration of anterior horn cells (HP:0002398)1.46806384
165Abnormality of the anterior horn cell (HP:0006802)1.46806384
166Atrophic scars (HP:0001075)1.46339055
167Spinal rigidity (HP:0003306)1.45689311
168Reticulocytosis (HP:0001923)1.44201073
169Nemaline bodies (HP:0003798)1.43732849
170Short nail (HP:0001799)1.43014226
171Aortic aneurysm (HP:0004942)1.42553432
172Open mouth (HP:0000194)1.42474409
173Unilateral renal agenesis (HP:0000122)1.41827812
174Arthrogryposis multiplex congenita (HP:0002804)1.41202121
175Fragile skin (HP:0001030)1.41035891
176Hydroureter (HP:0000072)1.40925351
177Glioma (HP:0009733)1.39785506
178Wormian bones (HP:0002645)1.37682648
179Knee flexion contracture (HP:0006380)1.37126386
180Easy fatigability (HP:0003388)1.36709863
181Proximal placement of thumb (HP:0009623)1.34465575
182Elbow flexion contracture (HP:0002987)1.34311618
183Muscular hypotonia of the trunk (HP:0008936)1.33565318
184Tongue fasciculations (HP:0001308)1.33325563
185Rhizomelia (HP:0008905)1.32435944
186Aplasia of the musculature (HP:0100854)1.32140308

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K94.34264579
2NTRK33.75503035
3EPHA43.04909316
4PRKD33.01586368
5MUSK2.87102245
6MINK12.82469661
7DAPK22.79664234
8MAP3K42.76448330
9PAK62.66430233
10KSR22.62376073
11EIF2AK12.59622408
12BUB12.56401562
13WEE12.47749801
14MARK12.43398396
15TSSK62.39553724
16EPHA22.22745227
17CAMKK12.16342529
18MET1.98307574
19DAPK11.97219355
20MAP3K121.96901391
21MAP2K71.94803991
22TRIM281.91384284
23KSR11.88680334
24MST1R1.85224701
25TAOK11.85053328
26LATS21.81844636
27BRSK21.81742418
28NEK11.80595366
29NTRK11.78245264
30MAP2K41.71524202
31BCR1.66348959
32TRIB31.64016327
33CDK191.61362768
34ARAF1.60913292
35VRK21.57461275
36NTRK21.53533760
37PLK21.53487981
38PLK31.51853108
39PBK1.46699017
40PAK41.44826982
41PNCK1.40368359
42CDK51.38456559
43MST41.34812449
44STK381.34623364
45SRPK11.32898102
46TTK1.31465583
47PRPF4B1.31279617
48BMPR21.31170434
49MYLK1.27653863
50MAP4K21.20242558
51MAP3K131.16793270
52TYRO31.16773114
53RET1.16697606
54ERBB41.15618366
55CAMKK21.15452194
56SCYL21.11684232
57RIPK11.09192130
58UHMK11.08081076
59CDK181.07685388
60ALK1.07307138
61CDK141.06287282
62PKN21.05464895
63LATS11.04336048
64MAP3K21.04228734
65CDK151.04198815
66PRKCH1.02614168
67LMTK21.02051315
68RAF11.01232851
69PRKCG1.00626781
70MAPK130.99551922
71PHKG20.96214065
72PHKG10.96214065
73FLT30.95538026
74PAK30.95023661
75CCNB10.93227606
76CDK11A0.91544246
77MAP3K10.89352857
78BRSK10.88454259
79PLK10.87830723
80SGK30.84997445
81SGK4940.84170847
82SGK2230.84170847
83CSNK1G30.81798582
84TESK10.81624105
85GRK50.80576920
86SIK20.79246282
87CSNK1A1L0.76303686
88CASK0.75979434
89CAMK10.71780041
90DMPK0.70911039
91SGK20.70660310
92BRAF0.70444327
93PAK20.69583893
94CAMK2B0.69228645
95PINK10.69142114
96LIMK10.69072713
97CDK80.69039521
98CSNK1G20.68900689
99EIF2AK30.68050256
100SIK30.67536289
101MAP2K10.65219300
102MARK20.64138949
103PDGFRA0.63262033
104CAMK2G0.62269426
105PDK10.61249245
106MAPKAPK30.61170494
107CDK70.59587756
108ILK0.59584111
109MAP3K110.59521144
110STK110.59264056
111AURKB0.57585752
112MAP3K50.57025279
113CDC42BPA0.56577184
114DAPK30.55619040
115FES0.55202135
116FER0.54796433
117CHEK20.53583464
118CAMK2A0.53384815
119EEF2K0.52660400
120RIPK40.52425020
121CSNK1G10.52180892
122AKT20.50721180
123PRKCI0.49358357
124AURKA0.49138078
125ICK0.48983959
126RPS6KA20.48813388
127PDPK10.48652633
128ROCK20.48347217
129PDK40.46531874
130PDK30.46531874
131DYRK1A0.46145366
132CAMK2D0.46014540
133PIM20.45302631
134MAPKAPK50.45035451
135PTK2B0.44864017
136ERBB30.43798005
137TTN0.43135596
138CDC70.43028643
139ROCK10.42772933
140MAPK100.42017592
141PAK10.41774159
142NEK20.40932915
143RPS6KA30.40565779
144RPS6KA40.40400726
145* CHEK10.40382691
146PDK20.40075497
147STK38L0.39547017
148EPHB20.38553762
149CAMK40.37316422
150PRKCZ0.35986802
151TNK20.35879644
152TAOK20.35704096
153SGK10.34649474
154MAP3K70.32310504
155FGFR10.31028361
156PTK20.30712484

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.90541268
2Olfactory transduction_Homo sapiens_hsa047402.81799564
3Nicotine addiction_Homo sapiens_hsa050332.73868326
4Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.61923479
5Circadian entrainment_Homo sapiens_hsa047132.48030278
6GABAergic synapse_Homo sapiens_hsa047272.36924783
7Insulin secretion_Homo sapiens_hsa049112.35510000
8Long-term potentiation_Homo sapiens_hsa047202.32257478
9Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.31291177
10Proteasome_Homo sapiens_hsa030502.22204493
11Amphetamine addiction_Homo sapiens_hsa050312.21727047
12Morphine addiction_Homo sapiens_hsa050322.15259440
13Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.12387240
14Dopaminergic synapse_Homo sapiens_hsa047282.09842073
15Glutamatergic synapse_Homo sapiens_hsa047242.00782225
16Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.88423488
17Biosynthesis of amino acids_Homo sapiens_hsa012301.86252560
18Cholinergic synapse_Homo sapiens_hsa047251.79561023
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.78602168
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.75952982
21Salivary secretion_Homo sapiens_hsa049701.72350078
22Vitamin B6 metabolism_Homo sapiens_hsa007501.66807747
23Gastric acid secretion_Homo sapiens_hsa049711.63493089
24Oxytocin signaling pathway_Homo sapiens_hsa049211.58792352
25Protein export_Homo sapiens_hsa030601.57454271
26Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.50257220
27Cocaine addiction_Homo sapiens_hsa050301.46708322
28Carbon metabolism_Homo sapiens_hsa012001.44050501
29GnRH signaling pathway_Homo sapiens_hsa049121.42951749
30Pyruvate metabolism_Homo sapiens_hsa006201.42518635
31Fatty acid elongation_Homo sapiens_hsa000621.40441206
32Non-homologous end-joining_Homo sapiens_hsa034501.39907918
33Type II diabetes mellitus_Homo sapiens_hsa049301.39342610
34Cell cycle_Homo sapiens_hsa041101.36342313
35Gap junction_Homo sapiens_hsa045401.35210223
36Glioma_Homo sapiens_hsa052141.33809306
37Long-term depression_Homo sapiens_hsa047301.33135118
38Collecting duct acid secretion_Homo sapiens_hsa049661.32618521
39Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.30723998
40Renin secretion_Homo sapiens_hsa049241.29693464
41Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.28532755
42Vibrio cholerae infection_Homo sapiens_hsa051101.27882021
43RNA transport_Homo sapiens_hsa030131.27855358
44Taste transduction_Homo sapiens_hsa047421.25486656
45Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.24503815
46Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.24474885
47Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.23686049
48Oocyte meiosis_Homo sapiens_hsa041141.23623469
49Mismatch repair_Homo sapiens_hsa034301.23068721
50Nucleotide excision repair_Homo sapiens_hsa034201.22625130
51Estrogen signaling pathway_Homo sapiens_hsa049151.21424371
52Calcium signaling pathway_Homo sapiens_hsa040201.20100658
53Hippo signaling pathway_Homo sapiens_hsa043901.19974146
54Folate biosynthesis_Homo sapiens_hsa007901.18526226
55Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.18506985
56DNA replication_Homo sapiens_hsa030301.18234978
57Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.18191563
58Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.18067542
59Serotonergic synapse_Homo sapiens_hsa047261.17128717
60Pentose phosphate pathway_Homo sapiens_hsa000301.13217958
61Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.12415119
62Phosphatidylinositol signaling system_Homo sapiens_hsa040701.11404578
63Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.11094844
64Adherens junction_Homo sapiens_hsa045201.09096012
65Steroid biosynthesis_Homo sapiens_hsa001001.08415192
66cAMP signaling pathway_Homo sapiens_hsa040241.06878336
67ErbB signaling pathway_Homo sapiens_hsa040121.06193258
68Neurotrophin signaling pathway_Homo sapiens_hsa047221.04033474
69Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.03173501
70Propanoate metabolism_Homo sapiens_hsa006401.02275739
71N-Glycan biosynthesis_Homo sapiens_hsa005101.00524403
72Spliceosome_Homo sapiens_hsa030401.00359581
73cGMP-PKG signaling pathway_Homo sapiens_hsa040220.99952884
74Cysteine and methionine metabolism_Homo sapiens_hsa002700.99793847
75mTOR signaling pathway_Homo sapiens_hsa041500.99278562
76Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.98539140
77Circadian rhythm_Homo sapiens_hsa047100.97227118
78Tight junction_Homo sapiens_hsa045300.93797284
79Carbohydrate digestion and absorption_Homo sapiens_hsa049730.92976480
80Base excision repair_Homo sapiens_hsa034100.92522753
81Fructose and mannose metabolism_Homo sapiens_hsa000510.91744774
82Melanogenesis_Homo sapiens_hsa049160.90967530
83Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.90868983
84Thyroid hormone signaling pathway_Homo sapiens_hsa049190.90710225
85Glucagon signaling pathway_Homo sapiens_hsa049220.89208461
86Endometrial cancer_Homo sapiens_hsa052130.88145802
87Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.85537922
88Dilated cardiomyopathy_Homo sapiens_hsa054140.84624586
89Central carbon metabolism in cancer_Homo sapiens_hsa052300.84433433
90One carbon pool by folate_Homo sapiens_hsa006700.82203531
91Basal transcription factors_Homo sapiens_hsa030220.82057904
92Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.81446964
93VEGF signaling pathway_Homo sapiens_hsa043700.81168252
94mRNA surveillance pathway_Homo sapiens_hsa030150.79894433
95Vascular smooth muscle contraction_Homo sapiens_hsa042700.78211687
96RNA polymerase_Homo sapiens_hsa030200.77585660
97Phospholipase D signaling pathway_Homo sapiens_hsa040720.77581723
98Thyroid hormone synthesis_Homo sapiens_hsa049180.76474154
99Insulin signaling pathway_Homo sapiens_hsa049100.76274528
100Cyanoamino acid metabolism_Homo sapiens_hsa004600.76118625
101Pyrimidine metabolism_Homo sapiens_hsa002400.75075867
102Fanconi anemia pathway_Homo sapiens_hsa034600.74285571
103Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.73094351
104MAPK signaling pathway_Homo sapiens_hsa040100.72557604
105Galactose metabolism_Homo sapiens_hsa000520.72295808
106Non-small cell lung cancer_Homo sapiens_hsa052230.72044931
107Nitrogen metabolism_Homo sapiens_hsa009100.71931692
108Arginine and proline metabolism_Homo sapiens_hsa003300.71867725
109Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.71762226
110Endocytosis_Homo sapiens_hsa041440.69691343
111Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.69475951
112Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.69377674
113p53 signaling pathway_Homo sapiens_hsa041150.67564864
114Focal adhesion_Homo sapiens_hsa045100.67296985
1152-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.66600686
116Cardiac muscle contraction_Homo sapiens_hsa042600.66287033
117Longevity regulating pathway - mammal_Homo sapiens_hsa042110.64648200
118Axon guidance_Homo sapiens_hsa043600.63749190
119Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.63336773
120Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.62469070
121ECM-receptor interaction_Homo sapiens_hsa045120.61981376
122Huntingtons disease_Homo sapiens_hsa050160.61378654
123Colorectal cancer_Homo sapiens_hsa052100.61256555
124Fatty acid metabolism_Homo sapiens_hsa012120.60998412
125Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.60796338
126Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.60547434
127Sulfur metabolism_Homo sapiens_hsa009200.59289599
128Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.59158642
129Prolactin signaling pathway_Homo sapiens_hsa049170.58862417
130Selenocompound metabolism_Homo sapiens_hsa004500.57700700
131Dorso-ventral axis formation_Homo sapiens_hsa043200.57369985
132Sulfur relay system_Homo sapiens_hsa041220.56848172
133RNA degradation_Homo sapiens_hsa030180.56736687
134Choline metabolism in cancer_Homo sapiens_hsa052310.56246714
135SNARE interactions in vesicular transport_Homo sapiens_hsa041300.55254958
136Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.55230516
137Inositol phosphate metabolism_Homo sapiens_hsa005620.54661422
138Pancreatic secretion_Homo sapiens_hsa049720.54280617
139Glutathione metabolism_Homo sapiens_hsa004800.53092205
140Lysine degradation_Homo sapiens_hsa003100.52521812
141Rap1 signaling pathway_Homo sapiens_hsa040150.51571426
142Alcoholism_Homo sapiens_hsa050340.51463934
143Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.50404080
144AMPK signaling pathway_Homo sapiens_hsa041520.50246531
145Renal cell carcinoma_Homo sapiens_hsa052110.50059175
146Parkinsons disease_Homo sapiens_hsa050120.50022623
147Arginine biosynthesis_Homo sapiens_hsa002200.49384946
148Sphingolipid metabolism_Homo sapiens_hsa006000.49093486
149Thyroid cancer_Homo sapiens_hsa052160.48709537
150Phototransduction_Homo sapiens_hsa047440.48547208
151Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.48271475
152Purine metabolism_Homo sapiens_hsa002300.47508751
153Proteoglycans in cancer_Homo sapiens_hsa052050.47432232
154Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.46684049
155Hedgehog signaling pathway_Homo sapiens_hsa043400.46505528
156Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.46323227
157Oxidative phosphorylation_Homo sapiens_hsa001900.46059569
158Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45459933
159Ras signaling pathway_Homo sapiens_hsa040140.44194485
160Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.44126843
161HIF-1 signaling pathway_Homo sapiens_hsa040660.43687650
162Type I diabetes mellitus_Homo sapiens_hsa049400.43548790
163Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.43350985
164Sphingolipid signaling pathway_Homo sapiens_hsa040710.42706518
165Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.41762391
166Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.39991998
167Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.39363366
168Wnt signaling pathway_Homo sapiens_hsa043100.38495720

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