ARHGEF9

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: The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three 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
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.18223084
2synaptic vesicle maturation (GO:0016188)6.09526856
3locomotory exploration behavior (GO:0035641)6.05910686
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.99224603
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.44607386
6vocalization behavior (GO:0071625)5.40407258
7synaptic vesicle exocytosis (GO:0016079)5.29290733
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.26575205
9synaptic vesicle docking involved in exocytosis (GO:0016081)5.06313318
10regulation of glutamate receptor signaling pathway (GO:1900449)5.04106570
11glutamate secretion (GO:0014047)5.03090435
12regulation of synaptic vesicle exocytosis (GO:2000300)4.91249786
13ionotropic glutamate receptor signaling pathway (GO:0035235)4.85546315
14regulation of long-term neuronal synaptic plasticity (GO:0048169)4.82674942
15regulation of synapse structural plasticity (GO:0051823)4.82657058
16regulation of neuronal synaptic plasticity (GO:0048168)4.74716757
17postsynaptic membrane organization (GO:0001941)4.70911506
18neuronal action potential propagation (GO:0019227)4.61382971
19protein localization to synapse (GO:0035418)4.54240038
20exploration behavior (GO:0035640)4.53529860
21neurotransmitter secretion (GO:0007269)4.45535704
22regulation of synaptic vesicle transport (GO:1902803)4.42384437
23neurotransmitter-gated ion channel clustering (GO:0072578)4.36344574
24synaptic transmission, glutamatergic (GO:0035249)4.35185575
25presynaptic membrane assembly (GO:0097105)4.29005822
26membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.24988574
27glutamate receptor signaling pathway (GO:0007215)4.23771523
28neuron-neuron synaptic transmission (GO:0007270)4.20840513
29regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.17932366
30long-term memory (GO:0007616)4.17208578
31presynaptic membrane organization (GO:0097090)4.16293467
32dendritic spine morphogenesis (GO:0060997)4.14810547
33regulation of excitatory postsynaptic membrane potential (GO:0060079)4.05450478
34layer formation in cerebral cortex (GO:0021819)4.01485063
35neuron cell-cell adhesion (GO:0007158)4.00053078
36positive regulation of membrane potential (GO:0045838)3.99922914
37gamma-aminobutyric acid transport (GO:0015812)3.99704728
38prepulse inhibition (GO:0060134)3.89483738
39regulation of dendritic spine morphogenesis (GO:0061001)3.88361927
40cellular potassium ion homeostasis (GO:0030007)3.87843125
41regulation of postsynaptic membrane potential (GO:0060078)3.80771765
42regulation of synaptic plasticity (GO:0048167)3.79673261
43positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.79551877
44neuromuscular process controlling balance (GO:0050885)3.72609360
45regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.63540530
46auditory behavior (GO:0031223)3.63362895
47regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.62097728
48long-term synaptic potentiation (GO:0060291)3.61492677
49positive regulation of synaptic transmission, GABAergic (GO:0032230)3.59868744
50regulation of synaptic transmission, glutamatergic (GO:0051966)3.59461335
51activation of protein kinase A activity (GO:0034199)3.58692430
52transmission of nerve impulse (GO:0019226)3.58308570
53cerebellar granule cell differentiation (GO:0021707)3.58086561
54sodium ion export (GO:0071436)3.56660288
55neurotransmitter transport (GO:0006836)3.56425602
56negative regulation of cytosolic calcium ion concentration (GO:0051481)3.55944515
57proline transport (GO:0015824)3.51416959
58positive regulation of synapse maturation (GO:0090129)3.50354099
59positive regulation of neurotransmitter transport (GO:0051590)3.45871271
60response to auditory stimulus (GO:0010996)3.42926051
61G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.41783878
62negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.40866696
63positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.39698158
64regulation of neurotransmitter levels (GO:0001505)3.37404682
65positive regulation of neurotransmitter secretion (GO:0001956)3.37180339
66regulation of neurotransmitter secretion (GO:0046928)3.37116922
67axon ensheathment in central nervous system (GO:0032291)3.35170812
68central nervous system myelination (GO:0022010)3.35170812
69response to histamine (GO:0034776)3.34743705
70pyrimidine nucleobase catabolic process (GO:0006208)3.33375875
71neuromuscular process controlling posture (GO:0050884)3.32339624
72behavioral defense response (GO:0002209)3.32233590
73behavioral fear response (GO:0001662)3.32233590
74cerebellar Purkinje cell differentiation (GO:0021702)3.31969811
75neuronal ion channel clustering (GO:0045161)3.30721031
76striatum development (GO:0021756)3.29120629
77glycine transport (GO:0015816)3.27188143
78synaptic vesicle endocytosis (GO:0048488)3.27163141
79membrane hyperpolarization (GO:0060081)3.26561344
80membrane depolarization (GO:0051899)3.25920937
81gamma-aminobutyric acid signaling pathway (GO:0007214)3.25633041
82behavioral response to cocaine (GO:0048148)3.25561820
83regulation of neurotransmitter transport (GO:0051588)3.23959170
84cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.23500373
85neuron recognition (GO:0008038)3.20205890
86membrane depolarization during action potential (GO:0086010)3.19829245
87regulation of dendritic spine development (GO:0060998)3.19274155
88regulation of vesicle fusion (GO:0031338)3.17774193
89learning (GO:0007612)3.17246745
90positive regulation of synaptic transmission (GO:0050806)3.14451166
91G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.13811978
92dendritic spine organization (GO:0097061)3.13224248
93negative regulation of synaptic transmission, GABAergic (GO:0032229)3.11020373
94L-amino acid import (GO:0043092)3.10932144
95neuromuscular synaptic transmission (GO:0007274)3.09329497
96cell communication by electrical coupling (GO:0010644)3.08357021
97central nervous system projection neuron axonogenesis (GO:0021952)3.08149075
98synaptic transmission, dopaminergic (GO:0001963)3.07584244
99neuromuscular process (GO:0050905)3.07501829
100adult walking behavior (GO:0007628)3.06653785
101positive regulation of dendritic spine development (GO:0060999)3.06315257
102nucleobase catabolic process (GO:0046113)3.06086384
103regulation of voltage-gated calcium channel activity (GO:1901385)3.05984142
104dendrite morphogenesis (GO:0048813)3.05107437
105fear response (GO:0042596)3.04994164
106regulation of synaptic transmission (GO:0050804)3.04945578
107visual learning (GO:0008542)3.04229182
108vesicle transport along microtubule (GO:0047496)3.03951253
109regulation of female receptivity (GO:0045924)3.03325932
110mechanosensory behavior (GO:0007638)3.01807265
111positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.00481782
112adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.00437629
113long term synaptic depression (GO:0060292)2.98154464
114axonal fasciculation (GO:0007413)2.97044846
115regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.91430414
116establishment of mitochondrion localization (GO:0051654)2.89701146
117behavioral response to nicotine (GO:0035095)2.87361289
118detection of calcium ion (GO:0005513)2.86188573
119startle response (GO:0001964)2.84882166
120chemosensory behavior (GO:0007635)2.84164133
121synapse assembly (GO:0007416)2.84049480
122potassium ion import (GO:0010107)2.82069207
123* synaptic transmission (GO:0007268)2.80000045
124cell differentiation in hindbrain (GO:0021533)2.78911774
125positive regulation of synapse assembly (GO:0051965)2.77491256
126cellular sodium ion homeostasis (GO:0006883)2.76256947
127serotonin metabolic process (GO:0042428)2.74521213
128potassium ion homeostasis (GO:0055075)2.74174029

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.93575348
2GBX2_23144817_ChIP-Seq_PC3_Human3.38039458
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.14714558
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.11019445
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.05275417
6* RARB_27405468_Chip-Seq_BRAIN_Mouse3.02042939
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.76697579
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.76697579
9DROSHA_22980978_ChIP-Seq_HELA_Human2.74220238
10REST_21632747_ChIP-Seq_MESCs_Mouse2.73696674
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.66983958
12SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.62450665
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.56860796
14SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.54010071
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.48821187
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.48030649
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.42832649
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.27165718
19MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.25545906
20REST_18959480_ChIP-ChIP_MESCs_Mouse2.24734045
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.24590726
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.20623697
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.19755821
24IKZF1_21737484_ChIP-ChIP_HCT116_Human2.18294560
25EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.99971805
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.98403968
27AR_21572438_ChIP-Seq_LNCaP_Human1.94017554
28CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.90802897
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.74156789
30NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.72594881
31CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.67673697
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.67445105
33ERG_21242973_ChIP-ChIP_JURKAT_Human1.65074428
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.62018409
35SMAD4_21799915_ChIP-Seq_A2780_Human1.59575869
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.45984038
37TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43575707
38POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.43575707
39POU3F2_20337985_ChIP-ChIP_501MEL_Human1.43118339
40TAF15_26573619_Chip-Seq_HEK293_Human1.42091537
41VDR_22108803_ChIP-Seq_LS180_Human1.36970261
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.34139939
43MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.32869563
44RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.31921487
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31845281
46SOX2_21211035_ChIP-Seq_LN229_Gbm1.31586410
47RING1B_27294783_Chip-Seq_ESCs_Mouse1.31422497
48DNAJC2_21179169_ChIP-ChIP_NT2_Human1.30429532
49SMAD3_21741376_ChIP-Seq_EPCs_Human1.25986539
50NR3C1_23031785_ChIP-Seq_PC12_Mouse1.25793982
51AR_19668381_ChIP-Seq_PC3_Human1.25462193
52WT1_25993318_ChIP-Seq_PODOCYTE_Human1.25355052
53PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.25214094
54TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24800541
55P300_19829295_ChIP-Seq_ESCs_Human1.23466504
56SMAD_19615063_ChIP-ChIP_OVARY_Human1.23363517
57ZNF274_21170338_ChIP-Seq_K562_Hela1.22732104
58STAT3_23295773_ChIP-Seq_U87_Human1.21982804
59ZFP57_27257070_Chip-Seq_ESCs_Mouse1.20817867
60AR_25329375_ChIP-Seq_VCAP_Human1.17878875
61RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.16456705
62GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15945126
63WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.15333445
64KDM2B_26808549_Chip-Seq_K562_Human1.14486229
65P53_22127205_ChIP-Seq_FIBROBLAST_Human1.13920287
66TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.13765388
67PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.13354232
68UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.11988843
69RING1B_27294783_Chip-Seq_NPCs_Mouse1.11622399
70ZNF217_24962896_ChIP-Seq_MCF-7_Human1.11614133
71TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.10555721
72FUS_26573619_Chip-Seq_HEK293_Human1.10531300
73EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.10523412
74OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.08509363
75TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.08015880
76ZFP281_18757296_ChIP-ChIP_E14_Mouse1.07447840
77CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07090994
78BCAT_22108803_ChIP-Seq_LS180_Human1.06727569
79NANOG_18555785_Chip-Seq_ESCs_Mouse1.06687204
80VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.06644116
81LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06322135
82TCF4_23295773_ChIP-Seq_U87_Human1.06128607
83SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04935163
84TOP2B_26459242_ChIP-Seq_MCF-7_Human1.04180886
85PIAS1_25552417_ChIP-Seq_VCAP_Human1.04172825
86YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03290716
87GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.03100591
88ARNT_22903824_ChIP-Seq_MCF-7_Human1.02608755
89* CBX2_27304074_Chip-Seq_ESCs_Mouse1.00428704
90ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.00383409
91AHR_22903824_ChIP-Seq_MCF-7_Human1.00092310
92HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.99621910
93CDX2_19796622_ChIP-Seq_MESCs_Mouse0.99620184
94MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.99141490
95SMAD3_21741376_ChIP-Seq_HESCs_Human0.98187461
96TP53_16413492_ChIP-PET_HCT116_Human0.98137123
97KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.97833723
98CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.97713355
99RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.97288617
100STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.96239417
101KDM2B_26808549_Chip-Seq_REH_Human0.95547312
102NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95168628
103RXR_22108803_ChIP-Seq_LS180_Human0.95095630
104CBP_20019798_ChIP-Seq_JUKART_Human0.94917144
105IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.94917144
106AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.94573466
107RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.93860038
108SMAD4_21741376_ChIP-Seq_HESCs_Human0.93530458
109FLI1_27457419_Chip-Seq_LIVER_Mouse0.93407377
110TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.93309192
111SMAD3_21741376_ChIP-Seq_ESCs_Human0.92755854
112PRDM14_20953172_ChIP-Seq_ESCs_Human0.91296709
113CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.90565306
114* RUNX2_22187159_ChIP-Seq_PCA_Human0.90314922
115TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89068104
116RNF2_27304074_Chip-Seq_NSC_Mouse0.86450986
117TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.86382634
118ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.85976443
119BMI1_23680149_ChIP-Seq_NPCS_Mouse0.85774990
120IGF1R_20145208_ChIP-Seq_DFB_Human0.85665330
121ZFP281_27345836_Chip-Seq_ESCs_Mouse0.85524994
122TET1_21490601_ChIP-Seq_MESCs_Mouse0.83065450
123CTCF_27219007_Chip-Seq_Bcells_Human0.82914512

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0004859_abnormal_synaptic_plasticity6.85437066
2MP0003880_abnormal_central_pattern4.77518889
3MP0002822_catalepsy4.40625518
4* MP0003635_abnormal_synaptic_transmissio4.35426888
5MP0004270_analgesia3.75819680
6MP0009745_abnormal_behavioral_response3.65735405
7* MP0002063_abnormal_learning/memory/cond3.49400656
8MP0002064_seizures3.30910455
9MP0009046_muscle_twitch3.22479970
10* MP0002572_abnormal_emotion/affect_behav2.87210828
11MP0001968_abnormal_touch/_nociception2.87140351
12MP0005423_abnormal_somatic_nervous2.75350038
13MP0001486_abnormal_startle_reflex2.74812834
14MP0002272_abnormal_nervous_system2.69612927
15MP0002734_abnormal_mechanical_nocicepti2.48745344
16MP0001501_abnormal_sleep_pattern2.34470307
17MP0008569_lethality_at_weaning2.07165192
18MP0002736_abnormal_nociception_after2.03585493
19MP0002909_abnormal_adrenal_gland1.97062147
20MP0001440_abnormal_grooming_behavior1.96484642
21MP0005646_abnormal_pituitary_gland1.91536161
22MP0002067_abnormal_sensory_capabilities1.88590941
23MP0009780_abnormal_chondrocyte_physiolo1.88470922
24MP0002733_abnormal_thermal_nociception1.85855406
25MP0001970_abnormal_pain_threshold1.85783640
26MP0002735_abnormal_chemical_nociception1.85293365
27MP0005386_behavior/neurological_phenoty1.81056320
28MP0004924_abnormal_behavior1.81056320
29MP0004811_abnormal_neuron_physiology1.80438464
30MP0002557_abnormal_social/conspecific_i1.74800071
31MP0003329_amyloid_beta_deposits1.65932800
32MP0002184_abnormal_innervation1.63964501
33MP0004858_abnormal_nervous_system1.57845690
34MP0000778_abnormal_nervous_system1.57259707
35MP0003879_abnormal_hair_cell1.57182085
36MP0008877_abnormal_DNA_methylation1.56614545
37MP0001984_abnormal_olfaction1.53689066
38MP0004885_abnormal_endolymph1.53205881
39MP0001529_abnormal_vocalization1.51619018
40MP0000955_abnormal_spinal_cord1.47099746
41MP0003633_abnormal_nervous_system1.45485736
42MP0003787_abnormal_imprinting1.44648921
43MP0002066_abnormal_motor_capabilities/c1.42494609
44* MP0002882_abnormal_neuron_morphology1.35453608
45MP0003121_genomic_imprinting1.33339493
46MP0001502_abnormal_circadian_rhythm1.22301102
47MP0001905_abnormal_dopamine_level1.21095993
48MP0005645_abnormal_hypothalamus_physiol1.20517810
49MP0003631_nervous_system_phenotype1.19657799
50MP0000569_abnormal_digit_pigmentation1.15549888
51MP0003075_altered_response_to1.14637152
52MP0006276_abnormal_autonomic_nervous1.13177490
53MP0008872_abnormal_physiological_respon1.11993555
54MP0004142_abnormal_muscle_tone1.11815511
55MP0001188_hyperpigmentation1.10081845
56MP0003123_paternal_imprinting1.09857212
57MP0006292_abnormal_olfactory_placode1.08139381
58MP0002152_abnormal_brain_morphology1.06959196
59MP0008874_decreased_physiological_sensi1.06938827
60MP0001986_abnormal_taste_sensitivity1.06704391
61MP0001177_atelectasis1.06049127
62MP0003690_abnormal_glial_cell1.01682088
63MP0000013_abnormal_adipose_tissue0.98745576
64MP0000751_myopathy0.98488259
65MP0003122_maternal_imprinting0.97548970
66MP0002069_abnormal_eating/drinking_beha0.97240180
67MP0002876_abnormal_thyroid_physiology0.95935327
68MP0005409_darkened_coat_color0.95808227
69MP0002102_abnormal_ear_morphology0.94382621
70MP0002653_abnormal_ependyma_morphology0.93478734
71MP0002229_neurodegeneration0.92692359
72MP0004085_abnormal_heartbeat0.91079828
73MP0005551_abnormal_eye_electrophysiolog0.90894754
74MP0004145_abnormal_muscle_electrophysio0.89826044
75MP0008961_abnormal_basal_metabolism0.89332102
76MP0000920_abnormal_myelination0.88783755
77MP0005535_abnormal_body_temperature0.86247554
78MP0003283_abnormal_digestive_organ0.85856640
79MP0005167_abnormal_blood-brain_barrier0.85186984
80MP0004147_increased_porphyrin_level0.84995807
81MP0004130_abnormal_muscle_cell0.82279263
82MP0000026_abnormal_inner_ear0.82145697
83MP0002090_abnormal_vision0.81329395
84MP0003634_abnormal_glial_cell0.80843123
85MP0003632_abnormal_nervous_system0.80626863
86MP0004133_heterotaxia0.79865933
87MP0003861_abnormal_nervous_system0.77369515
88MP0005253_abnormal_eye_physiology0.76021781
89MP0004742_abnormal_vestibular_system0.75614091
90MP0005394_taste/olfaction_phenotype0.75264226
91MP0005499_abnormal_olfactory_system0.75264226
92MP0003938_abnormal_ear_development0.74149094
93MP0004215_abnormal_myocardial_fiber0.73917504
94MP0000604_amyloidosis0.70828663
95MP0001963_abnormal_hearing_physiology0.70228718
96MP0010386_abnormal_urinary_bladder0.67565609
97MP0001485_abnormal_pinna_reflex0.67095542
98MP0003137_abnormal_impulse_conducting0.67001514
99MP0000631_abnormal_neuroendocrine_gland0.66991542
100MP0010234_abnormal_vibrissa_follicle0.66078978
101MP0006072_abnormal_retinal_apoptosis0.65621979
102MP0003136_yellow_coat_color0.65394386
103MP0004043_abnormal_pH_regulation0.64273230
104MP0003890_abnormal_embryonic-extraembry0.63266903
105MP0002752_abnormal_somatic_nervous0.63222411
106MP0003119_abnormal_digestive_system0.60825950
107MP0004510_myositis0.60608767
108MP0001346_abnormal_lacrimal_gland0.59864080
109MP0004484_altered_response_of0.58478893
110MP0004233_abnormal_muscle_weight0.58409642
111MP0001664_abnormal_digestion0.57668058
112MP0003172_abnormal_lysosome_physiology0.57289428
113MP0002837_dystrophic_cardiac_calcinosis0.55008910
114MP0001943_abnormal_respiration0.53257322
115MP0005623_abnormal_meninges_morphology0.52639672
116MP0010769_abnormal_survival0.52003917
117MP0001299_abnormal_eye_distance/0.51155589
118MP0002638_abnormal_pupillary_reflex0.50279118
119MP0003956_abnormal_body_size0.49733337
120MP0010770_preweaning_lethality0.49030564

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.32919883
2Myokymia (HP:0002411)7.90339406
3Focal seizures (HP:0007359)6.06664455
4Visual hallucinations (HP:0002367)5.05942787
5Epileptic encephalopathy (HP:0200134)4.78298309
6Progressive cerebellar ataxia (HP:0002073)4.39258946
7Action tremor (HP:0002345)4.38271838
8Febrile seizures (HP:0002373)4.37863218
9Atonic seizures (HP:0010819)4.31793927
10Absence seizures (HP:0002121)4.16283878
11Generalized tonic-clonic seizures (HP:0002069)3.96819718
12Dialeptic seizures (HP:0011146)3.82320044
13Poor eye contact (HP:0000817)3.78905805
14Broad-based gait (HP:0002136)3.78757502
15Gaze-evoked nystagmus (HP:0000640)3.71146670
16Impaired vibration sensation in the lower limbs (HP:0002166)3.68945686
17Ankle clonus (HP:0011448)3.56450599
18Dysdiadochokinesis (HP:0002075)3.52523212
19Depression (HP:0000716)3.51714270
20Abnormal social behavior (HP:0012433)3.44267648
21Impaired social interactions (HP:0000735)3.44267648
22Supranuclear gaze palsy (HP:0000605)3.34064017
23Anxiety (HP:0000739)3.32460092
24Dysmetria (HP:0001310)3.30682193
25Urinary bladder sphincter dysfunction (HP:0002839)3.28587330
26Postural instability (HP:0002172)3.25972906
27Papilledema (HP:0001085)3.24041776
28Truncal ataxia (HP:0002078)3.14676979
29Torticollis (HP:0000473)3.14665079
30Hyperventilation (HP:0002883)3.11877437
31Scanning speech (HP:0002168)2.97460397
32Annular pancreas (HP:0001734)2.94977732
33Abnormal eating behavior (HP:0100738)2.93205080
34Impaired smooth pursuit (HP:0007772)2.92413650
35Focal dystonia (HP:0004373)2.91044345
36Genetic anticipation (HP:0003743)2.83712040
37Dysmetric saccades (HP:0000641)2.83598309
38Urinary urgency (HP:0000012)2.82290212
39Amblyopia (HP:0000646)2.79925727
40Intention tremor (HP:0002080)2.79817541
41Mutism (HP:0002300)2.74426113
42Stereotypic behavior (HP:0000733)2.73000400
43Gait imbalance (HP:0002141)2.71582729
44Abnormality of the lower motor neuron (HP:0002366)2.69122248
45Spastic gait (HP:0002064)2.63556300
46Hemiplegia (HP:0002301)2.62125643
47Sleep apnea (HP:0010535)2.61275563
48Megalencephaly (HP:0001355)2.59746172
49Craniofacial dystonia (HP:0012179)2.58718349
50Abnormality of ocular smooth pursuit (HP:0000617)2.56819368
51Bradykinesia (HP:0002067)2.54982099
52Hemiparesis (HP:0001269)2.54865687
53Impaired vibratory sensation (HP:0002495)2.53497582
54Ventricular fibrillation (HP:0001663)2.51602068
55Drooling (HP:0002307)2.50788734
56Excessive salivation (HP:0003781)2.50788734
57Epileptiform EEG discharges (HP:0011182)2.41743005
58Progressive inability to walk (HP:0002505)2.40901983
59Resting tremor (HP:0002322)2.40896857
60Pointed chin (HP:0000307)2.39592296
61Status epilepticus (HP:0002133)2.37804139
62Abnormality of binocular vision (HP:0011514)2.33307212
63Diplopia (HP:0000651)2.33307212
64Medial flaring of the eyebrow (HP:0010747)2.30719705
65Protruding tongue (HP:0010808)2.30478867
66EEG with generalized epileptiform discharges (HP:0011198)2.29024343
67Neurofibrillary tangles (HP:0002185)2.25912283
68Ankyloglossia (HP:0010296)2.23445273
69Hypsarrhythmia (HP:0002521)2.18799372
70Absent speech (HP:0001344)2.17944416
71Insidious onset (HP:0003587)2.17892121
72Termporal pattern (HP:0011008)2.17892121
73Fetal akinesia sequence (HP:0001989)2.16613304
74Cerebral inclusion bodies (HP:0100314)2.15874261
75Lower limb muscle weakness (HP:0007340)2.14901671
76Incomplete penetrance (HP:0003829)2.14624472
77Abnormal EKG (HP:0003115)2.12269375
78Bundle branch block (HP:0011710)2.10689340
79Generalized myoclonic seizures (HP:0002123)2.05737670
80Gait ataxia (HP:0002066)2.03633709
81Congenital primary aphakia (HP:0007707)2.02157934
82Morphological abnormality of the pyramidal tract (HP:0002062)2.01605525
83Abnormality of saccadic eye movements (HP:0000570)2.01249031
84Clonus (HP:0002169)2.01129913
85Lower limb amyotrophy (HP:0007210)2.00861785
86Akinesia (HP:0002304)2.00408404
87Limb dystonia (HP:0002451)1.99901763
88Obstructive sleep apnea (HP:0002870)1.98631045
89Pheochromocytoma (HP:0002666)1.98275994
90Prolonged QT interval (HP:0001657)1.98070027
91Degeneration of the lateral corticospinal tracts (HP:0002314)1.94115258
92Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.94115258
93Blue irides (HP:0000635)1.93712705
94Nephrogenic diabetes insipidus (HP:0009806)1.93566659
95Abnormality of the corticospinal tract (HP:0002492)1.93248600
96Pancreatic fibrosis (HP:0100732)1.92787699
97Insomnia (HP:0100785)1.91209788
98Specific learning disability (HP:0001328)1.91091496
99Lower limb asymmetry (HP:0100559)1.90735695
100Syncope (HP:0001279)1.89387412
101Genital tract atresia (HP:0001827)1.88972993
102Inability to walk (HP:0002540)1.88031178
103Vaginal atresia (HP:0000148)1.87991689
104Neuronal loss in central nervous system (HP:0002529)1.86750382
105Abnormality of the labia minora (HP:0012880)1.85745137
106Rigidity (HP:0002063)1.84485868
107Nephronophthisis (HP:0000090)1.83326444
108Polydipsia (HP:0001959)1.82147926
109Abnormal drinking behavior (HP:0030082)1.82147926
110Agitation (HP:0000713)1.79452206
111Abnormality of the periventricular white matter (HP:0002518)1.77906703
112Spastic tetraparesis (HP:0001285)1.77719747
113Pancreatic cysts (HP:0001737)1.77481902
114Optic nerve hypoplasia (HP:0000609)1.77301894
115Aqueductal stenosis (HP:0002410)1.76635580
116True hermaphroditism (HP:0010459)1.75515874
117Congenital stationary night blindness (HP:0007642)1.74019173
118Abnormality of midbrain morphology (HP:0002418)1.74002839
119Molar tooth sign on MRI (HP:0002419)1.74002839
120Hip dysplasia (HP:0001385)1.72666455
121Psychosis (HP:0000709)1.72505072
122Bronchomalacia (HP:0002780)1.72181714
123Spastic tetraplegia (HP:0002510)1.71958853
124Spinal canal stenosis (HP:0003416)1.69904807
125Hypoplasia of the corpus callosum (HP:0002079)1.69900085
126Inappropriate behavior (HP:0000719)1.69308000
127Cutaneous finger syndactyly (HP:0010554)1.68779160
128Poor coordination (HP:0002370)1.68621605
129Lissencephaly (HP:0001339)1.68517797
130Rapidly progressive (HP:0003678)1.66428872
131Tetraplegia (HP:0002445)1.66119953
132Abnormality of salivation (HP:0100755)1.65160585
133Postural tremor (HP:0002174)1.64436668
134Polyphagia (HP:0002591)1.64298339

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.45121589
2NTRK34.72294871
3MAP3K93.72194190
4FRK3.08759691
5MAP3K42.76702588
6DAPK22.68471446
7MINK12.49468996
8PRKD32.46664727
9KSR22.37383634
10MARK12.34201191
11PAK62.26910347
12MAP2K72.23922354
13CAMKK12.16933197
14RIPK42.07797155
15NTRK22.02522658
16NTRK11.74848688
17MAP2K41.72061310
18KSR11.71506305
19DAPK11.68210173
20TNIK1.62027950
21CDK51.59689433
22MAP3K121.50051061
23MAP3K131.49548735
24ARAF1.49524217
25STK381.47398407
26PRPF4B1.46655975
27FES1.44073157
28BMPR1B1.41370917
29CAMKK21.36412330
30CDK191.32851497
31MAP3K21.30587158
32SIK21.23119508
33TYRO31.21873828
34CASK1.19564955
35PRKCG1.17459122
36TAOK11.15744208
37PLK21.13226084
38DYRK21.09131030
39UHMK11.08614674
40MAPK131.05405274
41GRK51.05256067
42SGK4941.04743807
43SGK2231.04743807
44CAMK11.01018922
45RAF10.98963399
46PINK10.98928779
47PRKCH0.98050173
48SGK20.95300441
49CAMK2A0.95114644
50CDK180.90571473
51PKN10.89939023
52ADRBK20.89761670
53STK110.89489263
54CDK150.89054993
55SGK30.88455116
56CDK140.85108360
57CAMK2B0.84878222
58RET0.80910817
59PTK2B0.79151153
60PDK10.79026230
61BMPR20.79001953
62SGK10.78980046
63PNCK0.78346915
64CDK11A0.77249214
65PHKG20.75563185
66PHKG10.75563185
67ALK0.75474682
68INSRR0.72853815
69LMTK20.72616410
70PDPK10.72143684
71OXSR10.69053699
72MAP3K10.68584674
73PAK30.68205452
74MARK20.67090671
75MAP4K20.64577568
76TNK20.64197303
77ACVR1B0.62795879
78NEK10.62048491
79RIPK10.61695788
80STK390.60910819
81NEK60.59880754
82WNK40.58132906
83MAPK120.57258713
84WNK10.56009016
85CAMK1D0.55911428
86RPS6KA30.55029327
87LATS20.54207091
88DYRK1A0.54157853
89EPHA30.52959857
90CAMK40.52802680
91ERBB20.52377957
92DMPK0.51182482
93MAP3K70.49923757
94CDC42BPA0.49897865
95PRKAA10.49496233
96PRKCZ0.48630405
97FYN0.48131998
98CSNK1G20.47582610
99PRKG10.46961832
100BCR0.46736029
101BRSK10.46233380
102CAMK2D0.45937561
103MAPK100.45709502
104CSNK1D0.45315324
105CAMK2G0.45294034
106AKT30.44802012
107PRKACA0.44521328
108MAP2K10.42676616
109PRKCE0.42586154
110PIK3CA0.41957449
111ADRBK10.41559667
112MKNK20.39427940
113CAMK1G0.39408840
114DAPK30.38951573
115WNK30.38849627
116CSNK1E0.37807248
117GRK10.37444134
118CSNK1A10.35480202
119CSNK1A1L0.35094191
120FER0.35010054
121CDK30.34465794
122CSNK1G10.34250318
123PRKCB0.34146987
124BRAF0.30991636
125SCYL20.30004110
126FGFR20.29472668
127PRKD20.28798037
128PRKCA0.28641344
129CCNB10.26361619

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.53574211
2Synaptic vesicle cycle_Homo sapiens_hsa047213.06044980
3Olfactory transduction_Homo sapiens_hsa047403.01603781
4Circadian entrainment_Homo sapiens_hsa047132.80380105
5GABAergic synapse_Homo sapiens_hsa047272.76974088
6Long-term potentiation_Homo sapiens_hsa047202.74282134
7Glutamatergic synapse_Homo sapiens_hsa047242.65156150
8Morphine addiction_Homo sapiens_hsa050322.63378213
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.61947218
10Amphetamine addiction_Homo sapiens_hsa050312.57918113
11Dopaminergic synapse_Homo sapiens_hsa047282.22498263
12Salivary secretion_Homo sapiens_hsa049702.19629523
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.13178709
14Insulin secretion_Homo sapiens_hsa049112.02773354
15Cholinergic synapse_Homo sapiens_hsa047252.00601615
16Gastric acid secretion_Homo sapiens_hsa049711.93196586
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.91409163
18Cocaine addiction_Homo sapiens_hsa050301.86062805
19Renin secretion_Homo sapiens_hsa049241.75210350
20Oxytocin signaling pathway_Homo sapiens_hsa049211.71455562
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.70105026
22Nitrogen metabolism_Homo sapiens_hsa009101.68664266
23Long-term depression_Homo sapiens_hsa047301.67777052
24Calcium signaling pathway_Homo sapiens_hsa040201.63552669
25Taste transduction_Homo sapiens_hsa047421.62829378
26Serotonergic synapse_Homo sapiens_hsa047261.58960330
27GnRH signaling pathway_Homo sapiens_hsa049121.46136420
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.44574082
29Gap junction_Homo sapiens_hsa045401.37737501
30cAMP signaling pathway_Homo sapiens_hsa040241.34751345
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.28501821
32Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.28468859
33Type II diabetes mellitus_Homo sapiens_hsa049301.22998077
34Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.20052435
35Phosphatidylinositol signaling system_Homo sapiens_hsa040701.17498365
36Glioma_Homo sapiens_hsa052141.17261305
37Estrogen signaling pathway_Homo sapiens_hsa049151.11174302
38Collecting duct acid secretion_Homo sapiens_hsa049661.08377183
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05894681
40Butanoate metabolism_Homo sapiens_hsa006501.02724450
41ErbB signaling pathway_Homo sapiens_hsa040121.00980176
42Melanogenesis_Homo sapiens_hsa049161.00757715
43Vascular smooth muscle contraction_Homo sapiens_hsa042700.95858762
44Axon guidance_Homo sapiens_hsa043600.94339688
45Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.93284139
46Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.92835634
47Phospholipase D signaling pathway_Homo sapiens_hsa040720.89416887
48Pancreatic secretion_Homo sapiens_hsa049720.87794045
49Dorso-ventral axis formation_Homo sapiens_hsa043200.86321477
50Oocyte meiosis_Homo sapiens_hsa041140.85414509
51Cardiac muscle contraction_Homo sapiens_hsa042600.83817537
52Phototransduction_Homo sapiens_hsa047440.81074847
53Thyroid hormone synthesis_Homo sapiens_hsa049180.79587356
54Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.78103189
55Dilated cardiomyopathy_Homo sapiens_hsa054140.77864316
56Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.74402702
57Choline metabolism in cancer_Homo sapiens_hsa052310.72766488
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.71035125
59MAPK signaling pathway_Homo sapiens_hsa040100.70547377
60Maturity onset diabetes of the young_Homo sapiens_hsa049500.70122708
61Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.69697343
62Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.68905799
63Vibrio cholerae infection_Homo sapiens_hsa051100.68198623
64VEGF signaling pathway_Homo sapiens_hsa043700.64698045
65Neurotrophin signaling pathway_Homo sapiens_hsa047220.64155789
66Carbohydrate digestion and absorption_Homo sapiens_hsa049730.62074401
67Rap1 signaling pathway_Homo sapiens_hsa040150.61294679
68Thyroid hormone signaling pathway_Homo sapiens_hsa049190.60859925
69Type I diabetes mellitus_Homo sapiens_hsa049400.59616914
70Glucagon signaling pathway_Homo sapiens_hsa049220.58057672
71Ras signaling pathway_Homo sapiens_hsa040140.57406170
72Non-small cell lung cancer_Homo sapiens_hsa052230.57147144
73mTOR signaling pathway_Homo sapiens_hsa041500.56573340
74Alcoholism_Homo sapiens_hsa050340.55928911
75Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.55565954
76Bile secretion_Homo sapiens_hsa049760.53919823
77Vitamin B6 metabolism_Homo sapiens_hsa007500.53723120
78Sphingolipid signaling pathway_Homo sapiens_hsa040710.52634256
79Hedgehog signaling pathway_Homo sapiens_hsa043400.52383840
80Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.52371306
81Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.51892017
82Hippo signaling pathway_Homo sapiens_hsa043900.51699743
83Circadian rhythm_Homo sapiens_hsa047100.50906701
84Regulation of autophagy_Homo sapiens_hsa041400.50699291
85ABC transporters_Homo sapiens_hsa020100.50490070
86Inositol phosphate metabolism_Homo sapiens_hsa005620.49220066
87Ether lipid metabolism_Homo sapiens_hsa005650.47977508
88Endocytosis_Homo sapiens_hsa041440.47693091
89Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.47007112
90Alzheimers disease_Homo sapiens_hsa050100.46567814
91Longevity regulating pathway - mammal_Homo sapiens_hsa042110.45402972
92Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.45018185
93Histidine metabolism_Homo sapiens_hsa003400.44721523
94Linoleic acid metabolism_Homo sapiens_hsa005910.43251911
95Mineral absorption_Homo sapiens_hsa049780.42460968
96Endometrial cancer_Homo sapiens_hsa052130.41578498
97African trypanosomiasis_Homo sapiens_hsa051430.41514808
98Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41478508
99Chemokine signaling pathway_Homo sapiens_hsa040620.41056522
100Prion diseases_Homo sapiens_hsa050200.40688837
101Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.39891402
102Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.39775650
103Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.39729285
104beta-Alanine metabolism_Homo sapiens_hsa004100.39672225
105alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.38375861
106Tight junction_Homo sapiens_hsa045300.37772446
107Renal cell carcinoma_Homo sapiens_hsa052110.37500066
108Insulin signaling pathway_Homo sapiens_hsa049100.37410051
109Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.37077555
110Wnt signaling pathway_Homo sapiens_hsa043100.36272566
111Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.36087923
112Tryptophan metabolism_Homo sapiens_hsa003800.35971986
113Glycerolipid metabolism_Homo sapiens_hsa005610.34952153
114Ovarian steroidogenesis_Homo sapiens_hsa049130.34385797
115Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.33520929
116Basal cell carcinoma_Homo sapiens_hsa052170.32245148
117Platelet activation_Homo sapiens_hsa046110.26462003
118Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.26359301
119Arginine biosynthesis_Homo sapiens_hsa002200.25517361
120Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.25249070
121SNARE interactions in vesicular transport_Homo sapiens_hsa041300.24712854

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