GNAO1

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 represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two 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)5.83522610
2synaptic vesicle maturation (GO:0016188)5.69496529
3positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.48836051
4locomotory exploration behavior (GO:0035641)5.41818046
5vocalization behavior (GO:0071625)5.31326846
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.25399586
7synaptic vesicle exocytosis (GO:0016079)5.22005104
8glutamate secretion (GO:0014047)4.98511054
9neuron cell-cell adhesion (GO:0007158)4.94018722
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.92012962
11regulation of synaptic vesicle exocytosis (GO:2000300)4.78138240
12protein localization to synapse (GO:0035418)4.72107054
13layer formation in cerebral cortex (GO:0021819)4.59226969
14regulation of glutamate receptor signaling pathway (GO:1900449)4.57029520
15L-amino acid import (GO:0043092)4.43705254
16ionotropic glutamate receptor signaling pathway (GO:0035235)4.38554334
17axon ensheathment in central nervous system (GO:0032291)4.37357488
18central nervous system myelination (GO:0022010)4.37357488
19exploration behavior (GO:0035640)4.34413282
20synaptic vesicle docking involved in exocytosis (GO:0016081)4.28697013
21neurotransmitter secretion (GO:0007269)4.23744010
22regulation of synaptic vesicle transport (GO:1902803)4.22262496
23potassium ion homeostasis (GO:0055075)4.21964423
24regulation of synapse structural plasticity (GO:0051823)4.17596878
25regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.15344636
26gamma-aminobutyric acid transport (GO:0015812)4.13381404
27regulation of long-term neuronal synaptic plasticity (GO:0048169)4.09862772
28dendritic spine morphogenesis (GO:0060997)4.08655661
29regulation of neuronal synaptic plasticity (GO:0048168)4.08554600
30glutamate receptor signaling pathway (GO:0007215)4.02194146
31neuronal action potential propagation (GO:0019227)4.01729978
32amino acid import (GO:0043090)4.00704173
33neurotransmitter-gated ion channel clustering (GO:0072578)3.95369190
34synaptic transmission, glutamatergic (GO:0035249)3.94705217
35potassium ion import (GO:0010107)3.94644266
36regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.86375645
37cellular potassium ion homeostasis (GO:0030007)3.78884604
38proline transport (GO:0015824)3.78143255
39neuron-neuron synaptic transmission (GO:0007270)3.77815032
40neuron recognition (GO:0008038)3.77281394
41regulation of synapse maturation (GO:0090128)3.67538382
42cellular sodium ion homeostasis (GO:0006883)3.66456586
43long-term memory (GO:0007616)3.64459863
44regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.61832199
45positive regulation of synapse maturation (GO:0090129)3.60282195
46membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.55869637
47regulation of voltage-gated calcium channel activity (GO:1901385)3.55682115
48regulation of excitatory postsynaptic membrane potential (GO:0060079)3.55113423
49transmission of nerve impulse (GO:0019226)3.55013544
50positive regulation of membrane potential (GO:0045838)3.52630849
51dendrite morphogenesis (GO:0048813)3.52168402
52positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.52149779
53neurotransmitter transport (GO:0006836)3.49457819
54positive regulation of synaptic transmission, GABAergic (GO:0032230)3.47790487
55positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.46261425
56positive regulation of dendritic spine morphogenesis (GO:0061003)3.43072872
57sodium ion export (GO:0071436)3.41330278
58regulation of postsynaptic membrane potential (GO:0060078)3.41120507
59postsynaptic membrane organization (GO:0001941)3.40992804
60auditory behavior (GO:0031223)3.40612552
61regulation of dendritic spine morphogenesis (GO:0061001)3.38882543
62axonal fasciculation (GO:0007413)3.37499248
63positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.37413915
64regulation of synaptic plasticity (GO:0048167)3.31960506
65regulation of synaptic transmission, glutamatergic (GO:0051966)3.30997751
66synaptic vesicle endocytosis (GO:0048488)3.28578994
67cell differentiation in hindbrain (GO:0021533)3.28507972
68neuromuscular synaptic transmission (GO:0007274)3.28497702
69activation of protein kinase A activity (GO:0034199)3.27829372
70regulation of neurotransmitter secretion (GO:0046928)3.27674604
71regulation of vesicle fusion (GO:0031338)3.27398793
72response to auditory stimulus (GO:0010996)3.27369216
73negative regulation of dendrite morphogenesis (GO:0050774)3.26441803
74prepulse inhibition (GO:0060134)3.25304620
75cerebellar Purkinje cell layer development (GO:0021680)3.25188262
76synapse assembly (GO:0007416)3.24181464
77neuromuscular process controlling balance (GO:0050885)3.23773604
78presynaptic membrane assembly (GO:0097105)3.23028344
79gamma-aminobutyric acid signaling pathway (GO:0007214)3.22548207
80cerebellar Purkinje cell differentiation (GO:0021702)3.21981850
81regulation of ARF protein signal transduction (GO:0032012)3.21277449
82regulation of neurotransmitter levels (GO:0001505)3.20683960
83establishment of mitochondrion localization (GO:0051654)3.20148753
84negative regulation of synaptic transmission, GABAergic (GO:0032229)3.19655331
85cell migration in hindbrain (GO:0021535)3.17623772
86acidic amino acid transport (GO:0015800)3.17285567
87G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.16169844
88cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.15372749
89neurotransmitter uptake (GO:0001504)3.14506498
90long-term synaptic potentiation (GO:0060291)3.14006438
91cell communication by electrical coupling (GO:0010644)3.13248169
92membrane hyperpolarization (GO:0060081)3.12830429
93regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.11553751
94innervation (GO:0060384)3.10625047
95neuromuscular process controlling posture (GO:0050884)3.09961527
96regulation of synaptic transmission (GO:0050804)3.09586969
97glycine transport (GO:0015816)3.09152109
98membrane depolarization during action potential (GO:0086010)3.07205539
99regulation of neurotransmitter transport (GO:0051588)3.05087100
100presynaptic membrane organization (GO:0097090)3.04404282
101mating behavior (GO:0007617)3.01367003
102adult walking behavior (GO:0007628)3.01315267
103membrane depolarization (GO:0051899)3.01093203
104cerebellar granule cell differentiation (GO:0021707)3.00036031
105negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.99628503
106neuromuscular process (GO:0050905)2.98858718
107learning (GO:0007612)2.98378717
108positive regulation of dendritic spine development (GO:0060999)2.98085713
109neuronal ion channel clustering (GO:0045161)2.97280728
110central nervous system projection neuron axonogenesis (GO:0021952)2.94670936
111vesicle transport along microtubule (GO:0047496)2.92309819
112regulation of dendritic spine development (GO:0060998)2.91992544
113positive regulation of neurotransmitter secretion (GO:0001956)2.91976949
114synapse organization (GO:0050808)2.89994696
115response to histamine (GO:0034776)2.89940829
116behavioral fear response (GO:0001662)2.89810748
117behavioral defense response (GO:0002209)2.89810748
118positive regulation of neurotransmitter transport (GO:0051590)2.89689622
119intraspecies interaction between organisms (GO:0051703)2.85585705
120social behavior (GO:0035176)2.85585705
121synaptic transmission (GO:0007268)2.85176373
122regulation of synaptic transmission, GABAergic (GO:0032228)2.84711262
123dendritic spine organization (GO:0097061)2.83969982
124organelle transport along microtubule (GO:0072384)2.83744304

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.76967500
2GBX2_23144817_ChIP-Seq_PC3_Human3.46594564
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.10482288
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.05181949
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.97602957
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.70331840
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.67101187
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.67101187
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.62089206
10EZH2_27304074_Chip-Seq_ESCs_Mouse2.54225179
11DROSHA_22980978_ChIP-Seq_HELA_Human2.53108731
12SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.53093814
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.50547112
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.49761099
15* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.49049596
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.46092520
17* RARB_27405468_Chip-Seq_BRAIN_Mouse2.42827290
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.28883320
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.26711798
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.22216841
21* EED_16625203_ChIP-ChIP_MESCs_Mouse2.19638254
22* REST_18959480_ChIP-ChIP_MESCs_Mouse2.16622443
23NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.09087339
24GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.02167279
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.00760953
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.99960109
27AR_21572438_ChIP-Seq_LNCaP_Human1.97217675
28IKZF1_21737484_ChIP-ChIP_HCT116_Human1.92532903
29EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.80697899
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.80081434
31MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.78404879
32THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.75969618
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.63999719
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.60958406
35* SMAD4_21799915_ChIP-Seq_A2780_Human1.60158628
36TAF15_26573619_Chip-Seq_HEK293_Human1.54356932
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.52417517
38ERG_21242973_ChIP-ChIP_JURKAT_Human1.48753090
39* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.39376316
40NR3C1_23031785_ChIP-Seq_PC12_Mouse1.35124539
41PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.35000687
42RING1B_27294783_Chip-Seq_ESCs_Mouse1.33738698
43SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33434963
44P300_19829295_ChIP-Seq_ESCs_Human1.33218320
45ZNF274_21170338_ChIP-Seq_K562_Hela1.31212202
46* SOX2_21211035_ChIP-Seq_LN229_Gbm1.30552408
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.29963239
48CBX2_27304074_Chip-Seq_ESCs_Mouse1.29756423
49* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.26714380
50RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.24136988
51GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22982779
52* STAT3_23295773_ChIP-Seq_U87_Human1.22916775
53SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22822865
54AR_25329375_ChIP-Seq_VCAP_Human1.22659094
55* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22024011
56* AR_19668381_ChIP-Seq_PC3_Human1.20649937
57PIAS1_25552417_ChIP-Seq_VCAP_Human1.20399100
58TOP2B_26459242_ChIP-Seq_MCF-7_Human1.19986037
59SMAD_19615063_ChIP-ChIP_OVARY_Human1.18825734
60ZFP281_27345836_Chip-Seq_ESCs_Mouse1.18685495
61* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.18296723
62RING1B_27294783_Chip-Seq_NPCs_Mouse1.15920970
63OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.15658181
64WT1_25993318_ChIP-Seq_PODOCYTE_Human1.14877259
65P53_22127205_ChIP-Seq_FIBROBLAST_Human1.13958216
66CDX2_19796622_ChIP-Seq_MESCs_Mouse1.13914758
67SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.12872863
68DNAJC2_21179169_ChIP-ChIP_NT2_Human1.12450872
69IGF1R_20145208_ChIP-Seq_DFB_Human1.11274599
70RNF2_27304074_Chip-Seq_NSC_Mouse1.09813265
71TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.09529068
72TCF4_23295773_ChIP-Seq_U87_Human1.08562387
73ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08482789
74YAP1_20516196_ChIP-Seq_MESCs_Mouse1.06342381
75ARNT_22903824_ChIP-Seq_MCF-7_Human1.06135027
76CTCF_27219007_Chip-Seq_Bcells_Human1.04303100
77* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.04016911
78GATA1_26923725_Chip-Seq_HPCs_Mouse1.03697474
79AHR_22903824_ChIP-Seq_MCF-7_Human1.02745068
80KDM2B_26808549_Chip-Seq_K562_Human1.02292171
81AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.01754959
82CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.01748491
83WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.00254205
84MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.99041522
85TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.96614934
86SMAD3_21741376_ChIP-Seq_ESCs_Human0.96467182
87ZFP281_18757296_ChIP-ChIP_E14_Mouse0.96383840
88TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.96134097
89* SMAD4_21741376_ChIP-Seq_HESCs_Human0.95795244
90ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.95792678
91TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94970478
92POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.94970478
93* RUNX2_22187159_ChIP-Seq_PCA_Human0.94958964
94NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94472197
95PRDM14_20953172_ChIP-Seq_ESCs_Human0.94329743
96POU3F2_20337985_ChIP-ChIP_501MEL_Human0.94320682
97TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93434727
98EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.93392881
99* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.93238199
100VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.92237315
101UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.90634083
102CTNNB1_20460455_ChIP-Seq_HCT116_Human0.89169705
103CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88712958
104TP53_20018659_ChIP-ChIP_R1E_Mouse0.88508028
105PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.88334785
106LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87955136
107ER_23166858_ChIP-Seq_MCF-7_Human0.87308008
108TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.87161152
109TP53_16413492_ChIP-PET_HCT116_Human0.86549913
110SMAD3_21741376_ChIP-Seq_HESCs_Human0.86287360
111FUS_26573619_Chip-Seq_HEK293_Human0.85448220
112RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.85389577
113TET1_21490601_ChIP-Seq_MESCs_Mouse0.84734523
114SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.81797094
115* DPY_21335234_ChIP-Seq_ESCs_Mouse0.78636329
116GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78391298
117SOX9_26525672_Chip-Seq_HEART_Mouse0.77118535
118OCT4_19829295_ChIP-Seq_ESCs_Human0.76138592
119* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.75833226

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.97282630
2MP0003880_abnormal_central_pattern4.46136778
3* MP0003635_abnormal_synaptic_transmissio3.99967310
4MP0004270_analgesia3.96281095
5MP0002063_abnormal_learning/memory/cond3.24028011
6MP0009745_abnormal_behavioral_response3.23984179
7MP0005423_abnormal_somatic_nervous3.13505148
8MP0001968_abnormal_touch/_nociception3.12677448
9MP0009046_muscle_twitch2.97964530
10* MP0002064_seizures2.95905865
11MP0002734_abnormal_mechanical_nocicepti2.84988624
12MP0002822_catalepsy2.76418875
13MP0002572_abnormal_emotion/affect_behav2.73647378
14MP0001486_abnormal_startle_reflex2.60804508
15MP0002272_abnormal_nervous_system2.53157124
16MP0002735_abnormal_chemical_nociception2.47853211
17MP0002736_abnormal_nociception_after2.36314404
18* MP0002733_abnormal_thermal_nociception2.17824102
19MP0000778_abnormal_nervous_system2.10205110
20MP0001440_abnormal_grooming_behavior2.07559777
21* MP0001970_abnormal_pain_threshold2.03777068
22MP0009780_abnormal_chondrocyte_physiolo2.03197418
23MP0001501_abnormal_sleep_pattern1.99896827
24MP0003329_amyloid_beta_deposits1.99064753
25MP0002067_abnormal_sensory_capabilities1.98139906
26MP0002184_abnormal_innervation1.94423345
27MP0004858_abnormal_nervous_system1.87713165
28MP0006276_abnormal_autonomic_nervous1.86851168
29MP0008569_lethality_at_weaning1.85643510
30MP0005386_behavior/neurological_phenoty1.84429026
31MP0004924_abnormal_behavior1.84429026
32MP0002909_abnormal_adrenal_gland1.83034464
33MP0001984_abnormal_olfaction1.82098714
34MP0004811_abnormal_neuron_physiology1.78776351
35* MP0002557_abnormal_social/conspecific_i1.78546591
36MP0000955_abnormal_spinal_cord1.66633714
37MP0004885_abnormal_endolymph1.61682687
38MP0005646_abnormal_pituitary_gland1.55952311
39MP0002882_abnormal_neuron_morphology1.52625510
40MP0001529_abnormal_vocalization1.47264772
41* MP0002066_abnormal_motor_capabilities/c1.42723917
42MP0005645_abnormal_hypothalamus_physiol1.39068508
43MP0001502_abnormal_circadian_rhythm1.36744538
44MP0003879_abnormal_hair_cell1.32943303
45MP0003633_abnormal_nervous_system1.32731024
46MP0003123_paternal_imprinting1.31748838
47MP0003787_abnormal_imprinting1.31432142
48MP0001188_hyperpigmentation1.24011783
49MP0001905_abnormal_dopamine_level1.22368085
50MP0004142_abnormal_muscle_tone1.19033268
51MP0002152_abnormal_brain_morphology1.18838889
52* MP0005551_abnormal_eye_electrophysiolog1.14793325
53MP0003631_nervous_system_phenotype1.12728681
54MP0002229_neurodegeneration1.09543840
55MP0004742_abnormal_vestibular_system1.03140426
56MP0000569_abnormal_digit_pigmentation1.02805097
57MP0005499_abnormal_olfactory_system1.02522052
58MP0005394_taste/olfaction_phenotype1.02522052
59MP0003634_abnormal_glial_cell1.02464299
60MP0003122_maternal_imprinting0.98617663
61MP0004145_abnormal_muscle_electrophysio0.93986934
62MP0000920_abnormal_myelination0.93892396
63MP0010386_abnormal_urinary_bladder0.93739124
64* MP0002069_abnormal_eating/drinking_beha0.92551183
65MP0003121_genomic_imprinting0.91763449
66MP0000751_myopathy0.91684316
67MP0002752_abnormal_somatic_nervous0.89850198
68MP0008961_abnormal_basal_metabolism0.87796837
69MP0008877_abnormal_DNA_methylation0.87455882
70MP0002090_abnormal_vision0.86952489
71MP0000631_abnormal_neuroendocrine_gland0.86267179
72MP0003690_abnormal_glial_cell0.84772159
73MP0000604_amyloidosis0.84063048
74MP0008872_abnormal_physiological_respon0.83452226
75MP0003632_abnormal_nervous_system0.82778298
76MP0002638_abnormal_pupillary_reflex0.82771329
77MP0000013_abnormal_adipose_tissue0.82421999
78MP0001177_atelectasis0.81556067
79MP0001963_abnormal_hearing_physiology0.81427670
80MP0005409_darkened_coat_color0.78977107
81* MP0004085_abnormal_heartbeat0.77765624
82MP0003283_abnormal_digestive_organ0.77378194
83MP0006072_abnormal_retinal_apoptosis0.76348716
84MP0005535_abnormal_body_temperature0.76008157
85MP0005167_abnormal_blood-brain_barrier0.73494790
86* MP0008874_decreased_physiological_sensi0.72123430
87MP0003137_abnormal_impulse_conducting0.72103993
88MP0004233_abnormal_muscle_weight0.70832264
89MP0001299_abnormal_eye_distance/0.68413939
90MP0001348_abnormal_lacrimal_gland0.67820538
91MP0001485_abnormal_pinna_reflex0.67714468
92MP0003861_abnormal_nervous_system0.67619991
93MP0000026_abnormal_inner_ear0.63398411
94MP0002837_dystrophic_cardiac_calcinosis0.63359243
95MP0000566_synostosis0.62128018
96MP0001346_abnormal_lacrimal_gland0.61547509
97MP0003172_abnormal_lysosome_physiology0.60709364
98MP0003075_altered_response_to0.60190737
99MP0001664_abnormal_digestion0.59575291
100MP0004147_increased_porphyrin_level0.59407482
101* MP0010768_mortality/aging0.57263842
102MP0005253_abnormal_eye_physiology0.57145577
103MP0005187_abnormal_penis_morphology0.56585877
104MP0001943_abnormal_respiration0.56467439
105MP0004043_abnormal_pH_regulation0.56273505
106MP0001986_abnormal_taste_sensitivity0.54636939
107MP0000579_abnormal_nail_morphology0.54263255
108* MP0010769_abnormal_survival0.53923789
109* MP0010770_preweaning_lethality0.53054846
110* MP0002082_postnatal_lethality0.53054846
111MP0004130_abnormal_muscle_cell0.52586791
112MP0003938_abnormal_ear_development0.51497738
113* MP0003956_abnormal_body_size0.49905089
114MP0005623_abnormal_meninges_morphology0.46406338
115MP0002653_abnormal_ependyma_morphology0.46106238
116MP0000639_abnormal_adrenal_gland0.43155233

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.62079575
2Myokymia (HP:0002411)6.37269875
3Focal seizures (HP:0007359)5.34897627
4Visual hallucinations (HP:0002367)4.95639320
5Progressive cerebellar ataxia (HP:0002073)4.31349633
6* Epileptic encephalopathy (HP:0200134)4.22516143
7Supranuclear gaze palsy (HP:0000605)3.93904523
8Action tremor (HP:0002345)3.92313483
9Atonic seizures (HP:0010819)3.90096060
10Febrile seizures (HP:0002373)3.85498629
11Absence seizures (HP:0002121)3.76940876
12Ankle clonus (HP:0011448)3.57680788
13Generalized tonic-clonic seizures (HP:0002069)3.53401538
14Poor eye contact (HP:0000817)3.53108958
15Dialeptic seizures (HP:0011146)3.45310695
16Broad-based gait (HP:0002136)3.42941864
17Mutism (HP:0002300)3.35141618
18Neurofibrillary tangles (HP:0002185)3.32970865
19Impaired social interactions (HP:0000735)3.18017418
20Abnormal social behavior (HP:0012433)3.18017418
21Hyperventilation (HP:0002883)3.10319716
22Limb dystonia (HP:0002451)3.09525319
23Cerebral inclusion bodies (HP:0100314)3.07192974
24Depression (HP:0000716)3.05635273
25Papilledema (HP:0001085)3.02761866
26Urinary bladder sphincter dysfunction (HP:0002839)3.00759661
27Gaze-evoked nystagmus (HP:0000640)2.98019412
28Truncal ataxia (HP:0002078)2.97916381
29Dysdiadochokinesis (HP:0002075)2.97450826
30Cerebral hypomyelination (HP:0006808)2.92546214
31Excessive salivation (HP:0003781)2.91572814
32Drooling (HP:0002307)2.91572814
33Dysmetria (HP:0001310)2.91161943
34Impaired vibration sensation in the lower limbs (HP:0002166)2.88951821
35Megalencephaly (HP:0001355)2.88836681
36Abnormal eating behavior (HP:0100738)2.86956654
37Anxiety (HP:0000739)2.86776980
38Genetic anticipation (HP:0003743)2.84609981
39Abnormality of the corticospinal tract (HP:0002492)2.81671850
40Sleep apnea (HP:0010535)2.80201283
41Annular pancreas (HP:0001734)2.74566681
42Amblyopia (HP:0000646)2.73762895
43Postural instability (HP:0002172)2.72738829
44Insidious onset (HP:0003587)2.71105709
45Termporal pattern (HP:0011008)2.71105709
46Spastic gait (HP:0002064)2.70136149
47Hemiparesis (HP:0001269)2.69258193
48Peripheral hypomyelination (HP:0007182)2.65617732
49Torticollis (HP:0000473)2.63595534
50Progressive inability to walk (HP:0002505)2.62660800
51Amyotrophic lateral sclerosis (HP:0007354)2.60622743
52Tetraplegia (HP:0002445)2.58396512
53Urinary urgency (HP:0000012)2.58271592
54Diplopia (HP:0000651)2.55839431
55Abnormality of binocular vision (HP:0011514)2.55839431
56Focal dystonia (HP:0004373)2.46402589
57Scanning speech (HP:0002168)2.42510480
58Pheochromocytoma (HP:0002666)2.41908382
59Intention tremor (HP:0002080)2.39419101
60Polyphagia (HP:0002591)2.39009255
61Delusions (HP:0000746)2.38256072
62Stereotypic behavior (HP:0000733)2.36953469
63Impaired smooth pursuit (HP:0007772)2.36450821
64Absent speech (HP:0001344)2.31334934
65Lower limb muscle weakness (HP:0007340)2.28934621
66Agitation (HP:0000713)2.28760679
67Bradykinesia (HP:0002067)2.26729042
68* Epileptiform EEG discharges (HP:0011182)2.24691426
69Abnormality of the lower motor neuron (HP:0002366)2.21957011
70* EEG with generalized epileptiform discharges (HP:0011198)2.20482959
71Spastic tetraparesis (HP:0001285)2.19008071
72Craniofacial dystonia (HP:0012179)2.15245567
73Fetal akinesia sequence (HP:0001989)2.13689552
74Increased circulating renin level (HP:0000848)2.12364387
75Generalized myoclonic seizures (HP:0002123)2.11463421
76Hemiplegia (HP:0002301)2.10947457
77Abnormality of ocular smooth pursuit (HP:0000617)2.10488397
78Akinesia (HP:0002304)2.10094858
79Split foot (HP:0001839)2.08154817
80Gait imbalance (HP:0002141)2.07660364
81Inability to walk (HP:0002540)2.07615576
82* Hypsarrhythmia (HP:0002521)2.06568076
83Choreoathetosis (HP:0001266)2.04134280
84Obstructive sleep apnea (HP:0002870)2.02538993
85Neuroendocrine neoplasm (HP:0100634)2.01547265
86Inappropriate behavior (HP:0000719)2.00368480
87Status epilepticus (HP:0002133)1.99149684
88Blue irides (HP:0000635)1.97614290
89Abnormality of salivation (HP:0100755)1.96641259
90Diminished motivation (HP:0000745)1.95313429
91Neuronal loss in central nervous system (HP:0002529)1.94458853
92Specific learning disability (HP:0001328)1.94367429
93Clonus (HP:0002169)1.94032470
94Ventricular fibrillation (HP:0001663)1.93392467
95Impaired vibratory sensation (HP:0002495)1.93035222
96Insomnia (HP:0100785)1.92977114
97CNS hypomyelination (HP:0003429)1.89431242
98Dysmetric saccades (HP:0000641)1.88757058
99Aplasia involving bones of the extremities (HP:0009825)1.87040136
100Aplasia involving bones of the upper limbs (HP:0009823)1.87040136
101Aplasia of the phalanges of the hand (HP:0009802)1.87040136
102Gait ataxia (HP:0002066)1.86529807
103Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.82150713
104Thickened helices (HP:0000391)1.81013688
105Morphological abnormality of the pyramidal tract (HP:0002062)1.80441359
106Spastic tetraplegia (HP:0002510)1.80084938
107Rapidly progressive (HP:0003678)1.79830419
108Pointed chin (HP:0000307)1.79755815
109Psychosis (HP:0000709)1.79265885
110Incomplete penetrance (HP:0003829)1.75936467
111Aqueductal stenosis (HP:0002410)1.74786730
112Abnormality of saccadic eye movements (HP:0000570)1.74553578
113Degeneration of the lateral corticospinal tracts (HP:0002314)1.73475212
114Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.73475212
115Apathy (HP:0000741)1.72810576
116Abnormal EKG (HP:0003115)1.72789862
117Central scotoma (HP:0000603)1.72511693
118Rigidity (HP:0002063)1.72013117
119Lower limb asymmetry (HP:0100559)1.71619560
120Postural tremor (HP:0002174)1.71593918

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.57975533
2NTRK33.94119176
3EPHA43.74191846
4MAP3K93.62496551
5MAP3K42.96587135
6MINK12.74766390
7NTRK22.62485378
8MAP2K72.52013759
9PAK62.30748764
10DAPK22.26546915
11NTRK12.10646135
12CASK1.97611474
13KSR21.90733155
14PRKD31.81356086
15MAP2K41.78812763
16CAMKK11.74234591
17TNIK1.66979858
18PHKG21.63047645
19PHKG11.63047645
20CDK51.60034292
21MAPK131.57888008
22PNCK1.56353796
23KSR11.47404503
24RIPK41.45723630
25SIK21.38298513
26MAP3K121.37574940
27GRK51.30868229
28UHMK11.28073665
29LATS21.27070445
30PLK21.26005459
31MAP3K21.22998979
32DAPK11.19170815
33PRPF4B1.17551325
34CAMKK21.16673671
35PRKCG1.16225435
36STK381.10365885
37FES1.05364676
38TYRO31.02624872
39SGK4941.00547097
40SGK2231.00547097
41CDK190.98370255
42CAMK2A0.96490906
43RET0.96128522
44CDK140.95594607
45CDK180.93708518
46CDK150.92283325
47ARAF0.88689732
48PAK30.88356514
49CSNK1G20.86720714
50LMTK20.84283502
51STK110.83870297
52CDK11A0.80569286
53DYRK1A0.79801443
54CAMK2B0.78707822
55MARK20.78381321
56PRKCH0.76214930
57CAMK10.76047074
58SGK20.75435525
59TAOK10.71461398
60OXSR10.69473547
61MAP3K60.67609842
62MAP3K130.67592946
63CAMK40.67573499
64SGK10.63352385
65SGK30.63156975
66ALK0.62769613
67PRKCZ0.62697348
68PKN10.62257234
69CAMK1G0.61787330
70PINK10.61409933
71PRKCE0.58991909
72DYRK20.58667922
73LIMK10.56216886
74PDK10.53940777
75WNK10.52815882
76WNK30.52083857
77CAMK2D0.51853042
78PDPK10.51619909
79MAP3K10.49668520
80ERBB30.49164349
81RPS6KA30.48430481
82FYN0.48360713
83CDC42BPA0.47906419
84FGFR20.47438756
85RAF10.47180202
86BRSK10.47014678
87RPS6KA20.46857757
88PTK2B0.44803056
89BMPR20.44657126
90MAPK100.43697798
91NEK60.42169476
92CAMK2G0.40691242
93BRAF0.39134414
94STK390.38642986
95MAP2K10.38588895
96SCYL20.38521194
97MAPK120.38467556
98ROCK20.38334581
99DAPK30.38052174
100MUSK0.37845876
101ERBB20.37123973
102FER0.37064692
103INSRR0.36471357
104PRKCA0.36153038
105TNK20.35214648
106ROCK10.35013821
107PRKCB0.35002881
108PRKG10.34885028
109RIPK10.34239921
110CSNK1D0.33932086
111MAP3K110.33467400
112CSNK1E0.33436500
113MAPK80.32538891
114PRKACA0.31968707
115TESK10.31153987
116CSNK1G30.29899592

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.52565040
2Synaptic vesicle cycle_Homo sapiens_hsa047213.17783351
3* GABAergic synapse_Homo sapiens_hsa047272.69654928
4Olfactory transduction_Homo sapiens_hsa047402.66961500
5* Circadian entrainment_Homo sapiens_hsa047132.58005799
6* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.57965410
7* Glutamatergic synapse_Homo sapiens_hsa047242.53097544
8Long-term potentiation_Homo sapiens_hsa047202.50031986
9* Morphine addiction_Homo sapiens_hsa050322.44427518
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.30545644
11Amphetamine addiction_Homo sapiens_hsa050312.28951910
12* Dopaminergic synapse_Homo sapiens_hsa047282.14778312
13Insulin secretion_Homo sapiens_hsa049112.10495614
14Salivary secretion_Homo sapiens_hsa049702.10287735
15* Cholinergic synapse_Homo sapiens_hsa047251.93268481
16Gastric acid secretion_Homo sapiens_hsa049711.81804180
17Taste transduction_Homo sapiens_hsa047421.78477086
18Cocaine addiction_Homo sapiens_hsa050301.76892045
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.74887072
20* Serotonergic synapse_Homo sapiens_hsa047261.69031982
21Renin secretion_Homo sapiens_hsa049241.68207420
22Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.65827059
23* Long-term depression_Homo sapiens_hsa047301.61265667
24Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.55022099
25* Oxytocin signaling pathway_Homo sapiens_hsa049211.53101099
26Calcium signaling pathway_Homo sapiens_hsa040201.46471010
27Gap junction_Homo sapiens_hsa045401.44170610
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.43584834
29GnRH signaling pathway_Homo sapiens_hsa049121.41013117
30Axon guidance_Homo sapiens_hsa043601.29708816
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.29414004
32Type II diabetes mellitus_Homo sapiens_hsa049301.26548210
33Collecting duct acid secretion_Homo sapiens_hsa049661.22209586
34cAMP signaling pathway_Homo sapiens_hsa040241.21681290
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.19355832
36Vitamin B6 metabolism_Homo sapiens_hsa007501.18771407
37Glioma_Homo sapiens_hsa052141.14765961
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.13309507
39* Estrogen signaling pathway_Homo sapiens_hsa049151.10573667
40ErbB signaling pathway_Homo sapiens_hsa040121.09083010
41Phosphatidylinositol signaling system_Homo sapiens_hsa040701.07194798
42Phototransduction_Homo sapiens_hsa047441.06666241
43Nitrogen metabolism_Homo sapiens_hsa009101.04355133
44Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.01533242
45cGMP-PKG signaling pathway_Homo sapiens_hsa040221.00691272
46Dorso-ventral axis formation_Homo sapiens_hsa043201.00029220
47Cardiac muscle contraction_Homo sapiens_hsa042600.97406706
48* Melanogenesis_Homo sapiens_hsa049160.96356992
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.90929262
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.90013785
51Pancreatic secretion_Homo sapiens_hsa049720.87732716
52Vibrio cholerae infection_Homo sapiens_hsa051100.85535099
53Choline metabolism in cancer_Homo sapiens_hsa052310.78364968
54Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.77708053
55Oocyte meiosis_Homo sapiens_hsa041140.77565527
56Thyroid hormone synthesis_Homo sapiens_hsa049180.76932905
57Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.76751702
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.76192596
59Carbohydrate digestion and absorption_Homo sapiens_hsa049730.75171996
60MAPK signaling pathway_Homo sapiens_hsa040100.70418644
61Neurotrophin signaling pathway_Homo sapiens_hsa047220.70092417
62Dilated cardiomyopathy_Homo sapiens_hsa054140.67884756
63Ras signaling pathway_Homo sapiens_hsa040140.64025386
64Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.63977528
65VEGF signaling pathway_Homo sapiens_hsa043700.63387238
66Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.62447639
67Sphingolipid signaling pathway_Homo sapiens_hsa040710.61692000
68Thyroid hormone signaling pathway_Homo sapiens_hsa049190.61181338
69Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.60885045
70Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.60441725
71Endometrial cancer_Homo sapiens_hsa052130.59382120
72Renal cell carcinoma_Homo sapiens_hsa052110.58615125
73Circadian rhythm_Homo sapiens_hsa047100.56097719
74mTOR signaling pathway_Homo sapiens_hsa041500.55932615
75Glucagon signaling pathway_Homo sapiens_hsa049220.54842171
76* Alcoholism_Homo sapiens_hsa050340.53052977
77Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.52458122
78Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.51996734
79* Rap1 signaling pathway_Homo sapiens_hsa040150.51506710
80Endocytosis_Homo sapiens_hsa041440.50550912
81Wnt signaling pathway_Homo sapiens_hsa043100.48444782
82Type I diabetes mellitus_Homo sapiens_hsa049400.46894477
83Bile secretion_Homo sapiens_hsa049760.46249488
84Histidine metabolism_Homo sapiens_hsa003400.46067920
85Insulin signaling pathway_Homo sapiens_hsa049100.45819934
86Non-small cell lung cancer_Homo sapiens_hsa052230.45708400
87Prion diseases_Homo sapiens_hsa050200.43746140
88Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.43424290
89Longevity regulating pathway - mammal_Homo sapiens_hsa042110.42657254
90Inositol phosphate metabolism_Homo sapiens_hsa005620.42626670
91Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.42594412
92Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41541491
93SNARE interactions in vesicular transport_Homo sapiens_hsa041300.38748838
94beta-Alanine metabolism_Homo sapiens_hsa004100.38552455
95Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.38026331
96Arginine and proline metabolism_Homo sapiens_hsa003300.37410943
97Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.36875467
98Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.34756586
99Alzheimers disease_Homo sapiens_hsa050100.33935037
100Ovarian steroidogenesis_Homo sapiens_hsa049130.33651914
101Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.33384801
102Colorectal cancer_Homo sapiens_hsa052100.33108345
103African trypanosomiasis_Homo sapiens_hsa051430.32882071
104Chemokine signaling pathway_Homo sapiens_hsa040620.32019537
105Hippo signaling pathway_Homo sapiens_hsa043900.29320969
106Mineral absorption_Homo sapiens_hsa049780.29304504
107Arginine biosynthesis_Homo sapiens_hsa002200.29250115
108Butanoate metabolism_Homo sapiens_hsa006500.28911198
109Tight junction_Homo sapiens_hsa045300.28331681
110AMPK signaling pathway_Homo sapiens_hsa041520.28195785
111Fatty acid biosynthesis_Homo sapiens_hsa000610.26275653

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