GABRB1

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 gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1vocalization behavior (GO:0071625)5.47542099
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.39797580
3ionotropic glutamate receptor signaling pathway (GO:0035235)5.38825466
4neuron cell-cell adhesion (GO:0007158)5.33884715
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.23132142
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.19259086
7glutamate receptor signaling pathway (GO:0007215)5.04147761
8protein localization to synapse (GO:0035418)4.96713008
9locomotory exploration behavior (GO:0035641)4.90675394
10synaptic vesicle exocytosis (GO:0016079)4.82008608
11regulation of glutamate receptor signaling pathway (GO:1900449)4.81583290
12regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.54174179
13positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.48396554
14neuronal action potential propagation (GO:0019227)4.48315098
15pyrimidine nucleobase catabolic process (GO:0006208)4.48065672
16synaptic transmission, glutamatergic (GO:0035249)4.46961642
17presynaptic membrane assembly (GO:0097105)4.46668271
18glutamate secretion (GO:0014047)4.35733436
19exploration behavior (GO:0035640)4.33971474
20regulation of long-term neuronal synaptic plasticity (GO:0048169)4.32669385
21postsynaptic membrane organization (GO:0001941)4.29933418
22neuron-neuron synaptic transmission (GO:0007270)4.26502515
23synaptic vesicle maturation (GO:0016188)4.21397181
24gamma-aminobutyric acid signaling pathway (GO:0007214)4.20480104
25regulation of synaptic vesicle exocytosis (GO:2000300)4.15095906
26neurotransmitter-gated ion channel clustering (GO:0072578)4.11699792
27negative regulation of synaptic transmission, glutamatergic (GO:0051967)4.09122380
28negative regulation of synaptic transmission, GABAergic (GO:0032229)4.07273917
29regulation of neuronal synaptic plasticity (GO:0048168)4.07152962
30G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.03422989
31neuron recognition (GO:0008038)4.01428608
32presynaptic membrane organization (GO:0097090)3.97037068
33gamma-aminobutyric acid transport (GO:0015812)3.95248359
34regulation of excitatory postsynaptic membrane potential (GO:0060079)3.91660876
35long-term memory (GO:0007616)3.91072405
36cellular potassium ion homeostasis (GO:0030007)3.90720414
37transmission of nerve impulse (GO:0019226)3.87269542
38regulation of synaptic vesicle transport (GO:1902803)3.83727361
39dendritic spine morphogenesis (GO:0060997)3.81314654
40neurofilament cytoskeleton organization (GO:0060052)3.81017564
41neurotransmitter secretion (GO:0007269)3.78955490
42regulation of postsynaptic membrane potential (GO:0060078)3.78934726
43membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.71170914
44regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.69255896
45positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.65160355
46nucleobase catabolic process (GO:0046113)3.62760556
47behavioral fear response (GO:0001662)3.62067287
48behavioral defense response (GO:0002209)3.62067287
49atrial cardiac muscle cell action potential (GO:0086014)3.59324857
50positive regulation of membrane potential (GO:0045838)3.58393685
51axonal fasciculation (GO:0007413)3.56326417
52C4-dicarboxylate transport (GO:0015740)3.56258448
53proline transport (GO:0015824)3.55515641
54startle response (GO:0001964)3.49771632
55synaptic vesicle docking involved in exocytosis (GO:0016081)3.48439474
56regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.47411345
57regulation of synaptic transmission, glutamatergic (GO:0051966)3.47189467
58long-term synaptic potentiation (GO:0060291)3.46508245
59establishment of mitochondrion localization (GO:0051654)3.44503158
60neurotransmitter transport (GO:0006836)3.44195229
61neuronal action potential (GO:0019228)3.43939015
62urinary tract smooth muscle contraction (GO:0014848)3.42432793
63regulation of synaptic plasticity (GO:0048167)3.41910476
64positive regulation of potassium ion transmembrane transport (GO:1901381)3.40518276
65positive regulation of synaptic transmission, GABAergic (GO:0032230)3.39479810
66regulation of vesicle fusion (GO:0031338)3.39386190
67serotonin metabolic process (GO:0042428)3.39256769
68L-amino acid import (GO:0043092)3.38996978
69fear response (GO:0042596)3.38828937
70cerebellar granule cell differentiation (GO:0021707)3.38727992
71regulation of synapse structural plasticity (GO:0051823)3.35521890
72cell migration in hindbrain (GO:0021535)3.35412497
73synaptic vesicle endocytosis (GO:0048488)3.34748960
74neuronal ion channel clustering (GO:0045161)3.33769825
75positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.32651771
76layer formation in cerebral cortex (GO:0021819)3.31634498
77regulation of dendritic spine morphogenesis (GO:0061001)3.29584827
78positive regulation of dendritic spine development (GO:0060999)3.27859292
79auditory behavior (GO:0031223)3.26786414
80response to auditory stimulus (GO:0010996)3.25424505
81regulation of glutamate secretion (GO:0014048)3.24335872
82regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.23197063
83righting reflex (GO:0060013)3.22887749
84regulation of respiratory system process (GO:0044065)3.20382573
85positive regulation of synapse assembly (GO:0051965)3.19524434
86learning (GO:0007612)3.19311687
87regulation of synapse maturation (GO:0090128)3.17853064
88regulation of neurotransmitter levels (GO:0001505)3.17468758
89acidic amino acid transport (GO:0015800)3.13513825
90positive regulation of neurotransmitter secretion (GO:0001956)3.13326100
91membrane depolarization (GO:0051899)3.13205704
92synapse assembly (GO:0007416)3.11678047
93neurotransmitter uptake (GO:0001504)3.11123204
94regulation of dendritic spine development (GO:0060998)3.07879928
95regulation of synapse assembly (GO:0051963)3.06260327
96sodium ion export (GO:0071436)3.06069308
97* response to histamine (GO:0034776)3.02196758
98adult walking behavior (GO:0007628)3.01459347
99regulation of neurotransmitter secretion (GO:0046928)3.00531283
100neuromuscular process controlling posture (GO:0050884)2.99343311
101synapse organization (GO:0050808)2.96475286
102positive regulation of synapse maturation (GO:0090129)2.96201386
103innervation (GO:0060384)2.96152003
104primary amino compound metabolic process (GO:1901160)2.95751958
105regulation of synaptic transmission, GABAergic (GO:0032228)2.93607921
106regulation of female receptivity (GO:0045924)2.93418242
107dendrite morphogenesis (GO:0048813)2.92602827
108intraspecies interaction between organisms (GO:0051703)2.92197164
109social behavior (GO:0035176)2.92197164
110* synaptic transmission (GO:0007268)2.91904819
111cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.91846882
112regulation of synaptic transmission (GO:0050804)2.91793102
113membrane hyperpolarization (GO:0060081)2.91452119
114synaptic vesicle transport (GO:0048489)2.91270472
115establishment of synaptic vesicle localization (GO:0097480)2.91270472
116behavioral response to nicotine (GO:0035095)2.90865260
117regulation of respiratory gaseous exchange (GO:0043576)2.90153761
118adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.89574526
119mechanosensory behavior (GO:0007638)2.88839194
120positive regulation of synaptic transmission (GO:0050806)2.88405446
121L-glutamate transport (GO:0015813)2.88299974
122neuromuscular synaptic transmission (GO:0007274)2.88072864
123membrane depolarization during action potential (GO:0086010)2.87299796
124female mating behavior (GO:0060180)2.86797391
125adult behavior (GO:0030534)2.86667559
126positive regulation of dendritic spine morphogenesis (GO:0061003)2.86430559
127central nervous system projection neuron axonogenesis (GO:0021952)2.86287379
128cochlea development (GO:0090102)2.85499378

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.35947552
2GBX2_23144817_ChIP-Seq_PC3_Human4.06600081
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.16708697
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.14928377
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.06537360
6* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.68766274
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.62363695
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.62363695
9* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.62088319
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.56973036
11EZH2_27304074_Chip-Seq_ESCs_Mouse2.52726790
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.51953291
13REST_21632747_ChIP-Seq_MESCs_Mouse2.50293970
14EED_16625203_ChIP-ChIP_MESCs_Mouse2.47767521
15* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.39815558
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.34837617
17TAF15_26573619_Chip-Seq_HEK293_Human2.17011775
18IKZF1_21737484_ChIP-ChIP_HCT116_Human2.14946393
19RNF2_27304074_Chip-Seq_ESCs_Mouse2.12314024
20AR_21572438_ChIP-Seq_LNCaP_Human2.10612767
21CTBP2_25329375_ChIP-Seq_LNCAP_Human2.09670381
22* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.08421961
23CTBP1_25329375_ChIP-Seq_LNCAP_Human2.07467919
24* EZH2_27294783_Chip-Seq_ESCs_Mouse2.06474691
25DROSHA_22980978_ChIP-Seq_HELA_Human2.05978996
26ZFP57_27257070_Chip-Seq_ESCs_Mouse2.03449150
27RARB_27405468_Chip-Seq_BRAIN_Mouse1.97497592
28REST_18959480_ChIP-ChIP_MESCs_Mouse1.89419298
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.86120986
30CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.83844225
31GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.82206175
32SMAD4_21799915_ChIP-Seq_A2780_Human1.81983530
33P300_19829295_ChIP-Seq_ESCs_Human1.81341233
34ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.74408286
35* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.70705313
36NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.67289603
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.67242972
38CBX2_27304074_Chip-Seq_ESCs_Mouse1.62340110
39TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.61774484
40ZNF274_21170338_ChIP-Seq_K562_Hela1.54372344
41FUS_26573619_Chip-Seq_HEK293_Human1.53649740
42* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.52444599
43* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.50237197
44BMI1_23680149_ChIP-Seq_NPCS_Mouse1.49821333
45SMAD3_21741376_ChIP-Seq_EPCs_Human1.49119842
46IGF1R_20145208_ChIP-Seq_DFB_Human1.46425427
47SMAD_19615063_ChIP-ChIP_OVARY_Human1.45958595
48MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.45218511
49* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.43825494
50PIAS1_25552417_ChIP-Seq_VCAP_Human1.42894292
51AR_25329375_ChIP-Seq_VCAP_Human1.42309582
52TOP2B_26459242_ChIP-Seq_MCF-7_Human1.41548684
53* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36047132
54OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.35368655
55* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34714154
56CDX2_19796622_ChIP-Seq_MESCs_Mouse1.34500899
57RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.29785087
58FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.28398495
59RNF2_27304074_Chip-Seq_NSC_Mouse1.28280534
60* STAT3_23295773_ChIP-Seq_U87_Human1.24614807
61NR3C1_23031785_ChIP-Seq_PC12_Mouse1.24426521
62TP53_16413492_ChIP-PET_HCT116_Human1.24248581
63EWS_26573619_Chip-Seq_HEK293_Human1.22891574
64SOX2_21211035_ChIP-Seq_LN229_Gbm1.22710259
65VDR_22108803_ChIP-Seq_LS180_Human1.21557305
66RING1B_27294783_Chip-Seq_ESCs_Mouse1.21224212
67UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.21103424
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.18566668
69CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.18540888
70TP53_18474530_ChIP-ChIP_U2OS_Human1.16797320
71ERG_21242973_ChIP-ChIP_JURKAT_Human1.15628665
72CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14704277
73AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.14347285
74RUNX2_22187159_ChIP-Seq_PCA_Human1.13925087
75TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.13438178
76* TCF4_23295773_ChIP-Seq_U87_Human1.13389573
77NR3C1_21868756_ChIP-Seq_MCF10A_Human1.13350117
78PRDM14_20953172_ChIP-Seq_ESCs_Human1.13078547
79NANOG_18555785_Chip-Seq_ESCs_Mouse1.12555709
80TAL1_26923725_Chip-Seq_HPCs_Mouse1.12450557
81MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.12283981
82ER_23166858_ChIP-Seq_MCF-7_Human1.10715629
83KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.09879859
84IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.08472793
85CBP_20019798_ChIP-Seq_JUKART_Human1.08472793
86BCAT_22108803_ChIP-Seq_LS180_Human1.07995262
87ARNT_22903824_ChIP-Seq_MCF-7_Human1.07903469
88MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.07448752
89JUN_21703547_ChIP-Seq_K562_Human1.07119716
90* AR_19668381_ChIP-Seq_PC3_Human1.06110270
91CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.04651799
92SOX9_26525672_Chip-Seq_HEART_Mouse1.04143884
93LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02120268
94ZNF217_24962896_ChIP-Seq_MCF-7_Human1.01979934
95EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.99135640
96YAP1_20516196_ChIP-Seq_MESCs_Mouse0.98837901
97POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.98755255
98TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98755255
99E2F1_18555785_Chip-Seq_ESCs_Mouse0.98631635
100RING1B_27294783_Chip-Seq_NPCs_Mouse0.98558101
101P53_22127205_ChIP-Seq_FIBROBLAST_Human0.98511152
102TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.97138045
103AHR_22903824_ChIP-Seq_MCF-7_Human0.96235713
104EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.96145450
105RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.93866096
106TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92641735
107P53_22387025_ChIP-Seq_ESCs_Mouse0.92516123
108WT1_25993318_ChIP-Seq_PODOCYTE_Human0.92318027
109FLI1_21867929_ChIP-Seq_TH2_Mouse0.91793032
110FLI1_27457419_Chip-Seq_LIVER_Mouse0.91771188
111CMYC_18555785_Chip-Seq_ESCs_Mouse0.90944199
112KDM2B_26808549_Chip-Seq_REH_Human0.90335394
113MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.90291253
114KLF5_20875108_ChIP-Seq_MESCs_Mouse0.88891302

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.75163912
2MP0003880_abnormal_central_pattern5.53003971
3MP0003635_abnormal_synaptic_transmissio4.01419005
4MP0009745_abnormal_behavioral_response3.51699126
5MP0004270_analgesia3.41029748
6MP0002063_abnormal_learning/memory/cond3.21483601
7MP0002064_seizures3.19254548
8MP0001968_abnormal_touch/_nociception3.09623292
9MP0009046_muscle_twitch3.06278315
10MP0002572_abnormal_emotion/affect_behav2.93640884
11MP0001501_abnormal_sleep_pattern2.71490618
12MP0005423_abnormal_somatic_nervous2.70609684
13MP0001486_abnormal_startle_reflex2.68230628
14MP0002272_abnormal_nervous_system2.65851821
15MP0001440_abnormal_grooming_behavior2.55247944
16MP0002736_abnormal_nociception_after2.54867805
17MP0002734_abnormal_mechanical_nocicepti2.38430161
18MP0006276_abnormal_autonomic_nervous2.32086397
19MP0002735_abnormal_chemical_nociception2.19056015
20MP0002067_abnormal_sensory_capabilities2.08002957
21MP0005646_abnormal_pituitary_gland1.96253917
22MP0002733_abnormal_thermal_nociception1.95673890
23MP0001970_abnormal_pain_threshold1.87093107
24MP0005645_abnormal_hypothalamus_physiol1.85657477
25MP0002557_abnormal_social/conspecific_i1.84403387
26MP0000778_abnormal_nervous_system1.83609299
27MP0001188_hyperpigmentation1.82261031
28MP0003329_amyloid_beta_deposits1.81130474
29MP0001529_abnormal_vocalization1.76190579
30MP0001984_abnormal_olfaction1.75796081
31MP0004924_abnormal_behavior1.72172744
32MP0005386_behavior/neurological_phenoty1.72172744
33MP0002184_abnormal_innervation1.70765698
34MP0008569_lethality_at_weaning1.67918371
35MP0002822_catalepsy1.66815141
36MP0001905_abnormal_dopamine_level1.61708968
37MP0004142_abnormal_muscle_tone1.59126838
38MP0009780_abnormal_chondrocyte_physiolo1.56363529
39MP0000569_abnormal_digit_pigmentation1.55541718
40MP0000566_synostosis1.53246723
41MP0004885_abnormal_endolymph1.48403155
42MP0003122_maternal_imprinting1.47125491
43MP0004858_abnormal_nervous_system1.45095024
44MP0001502_abnormal_circadian_rhythm1.44352033
45MP0003121_genomic_imprinting1.41637098
46MP0005409_darkened_coat_color1.41429170
47MP0002882_abnormal_neuron_morphology1.36403868
48MP0003879_abnormal_hair_cell1.35802247
49MP0004811_abnormal_neuron_physiology1.35076365
50MP0002066_abnormal_motor_capabilities/c1.34907687
51MP0000955_abnormal_spinal_cord1.34046948
52MP0003633_abnormal_nervous_system1.29944193
53MP0002102_abnormal_ear_morphology1.29402065
54MP0003787_abnormal_imprinting1.25409720
55MP0002909_abnormal_adrenal_gland1.25206765
56MP0003631_nervous_system_phenotype1.11250747
57MP0006292_abnormal_olfactory_placode1.10113292
58MP0005551_abnormal_eye_electrophysiolog1.08817190
59MP0004742_abnormal_vestibular_system1.08455639
60MP0004145_abnormal_muscle_electrophysio1.06691395
61MP0003136_yellow_coat_color1.05643493
62MP0002152_abnormal_brain_morphology1.05328568
63MP0003690_abnormal_glial_cell1.05294355
64MP0003890_abnormal_embryonic-extraembry1.04256986
65MP0008877_abnormal_DNA_methylation1.04219184
66MP0004133_heterotaxia0.99749653
67MP0001963_abnormal_hearing_physiology0.99369347
68MP0002876_abnormal_thyroid_physiology0.98711083
69MP0002229_neurodegeneration0.96614554
70MP0004147_increased_porphyrin_level0.93445386
71MP0008872_abnormal_physiological_respon0.89609708
72MP0000631_abnormal_neuroendocrine_gland0.88840284
73MP0001986_abnormal_taste_sensitivity0.88673008
74MP0005248_abnormal_Harderian_gland0.87723724
75MP0005187_abnormal_penis_morphology0.87251731
76MP0003634_abnormal_glial_cell0.87220677
77MP0008874_decreased_physiological_sensi0.87098705
78MP0002837_dystrophic_cardiac_calcinosis0.86423687
79MP0005535_abnormal_body_temperature0.86411147
80MP0002069_abnormal_eating/drinking_beha0.85140242
81MP0001485_abnormal_pinna_reflex0.84194148
82MP0005171_absent_coat_pigmentation0.84148195
83MP0002638_abnormal_pupillary_reflex0.83797865
84MP0010386_abnormal_urinary_bladder0.82735830
85MP0000751_myopathy0.81991514
86MP0002752_abnormal_somatic_nervous0.81367312
87MP0003632_abnormal_nervous_system0.78486929
88MP0005499_abnormal_olfactory_system0.77889321
89MP0005394_taste/olfaction_phenotype0.77889321
90MP0000920_abnormal_myelination0.76945076
91MP0000026_abnormal_inner_ear0.76293978
92MP0000604_amyloidosis0.75882441
93MP0004085_abnormal_heartbeat0.75209998
94MP0001664_abnormal_digestion0.73667314
95MP0004215_abnormal_myocardial_fiber0.72579475
96MP0001177_atelectasis0.72036462
97MP0004484_altered_response_of0.71626656
98MP0003861_abnormal_nervous_system0.70521384
99MP0002751_abnormal_autonomic_nervous0.68778883
100MP0003075_altered_response_to0.67147181
101MP0005379_endocrine/exocrine_gland_phen0.65618798
102MP0003137_abnormal_impulse_conducting0.62682884
103MP0009379_abnormal_foot_pigmentation0.62176488
104MP0006072_abnormal_retinal_apoptosis0.61810910
105MP0010769_abnormal_survival0.58615656
106MP0010768_mortality/aging0.55642136
107MP0001943_abnormal_respiration0.54302272
108MP0002234_abnormal_pharynx_morphology0.53600457
109MP0003938_abnormal_ear_development0.53039590
110MP0002090_abnormal_vision0.52824407
111MP0005167_abnormal_blood-brain_barrier0.52755004
112MP0005253_abnormal_eye_physiology0.51559178
113MP0003283_abnormal_digestive_organ0.51131548
114MP0001299_abnormal_eye_distance/0.50619479
115MP0005620_abnormal_muscle_contractility0.50375962
116MP0000013_abnormal_adipose_tissue0.48545999
117MP0004043_abnormal_pH_regulation0.47156517
118MP0002082_postnatal_lethality0.46556127
119MP0010770_preweaning_lethality0.46556127

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.56935297
2Focal seizures (HP:0007359)5.80473976
3Myokymia (HP:0002411)5.45151279
4Visual hallucinations (HP:0002367)4.98425921
5Epileptic encephalopathy (HP:0200134)4.97623526
6Atonic seizures (HP:0010819)4.85133081
7Febrile seizures (HP:0002373)4.62902522
8Absence seizures (HP:0002121)4.56516795
9Dialeptic seizures (HP:0011146)4.35306428
10Progressive cerebellar ataxia (HP:0002073)4.25734332
11Hyperventilation (HP:0002883)4.21460115
12Generalized tonic-clonic seizures (HP:0002069)4.09645079
13Broad-based gait (HP:0002136)3.94518299
14Hemiparesis (HP:0001269)3.40515822
15Supranuclear gaze palsy (HP:0000605)3.40216637
16Abnormality of binocular vision (HP:0011514)3.35932104
17Diplopia (HP:0000651)3.35932104
18Neurofibrillary tangles (HP:0002185)3.34045745
19Cerebral inclusion bodies (HP:0100314)3.25453614
20Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.22754766
21Degeneration of the lateral corticospinal tracts (HP:0002314)3.22754766
22Gaze-evoked nystagmus (HP:0000640)3.19817218
23Truncal ataxia (HP:0002078)3.16197254
24Excessive salivation (HP:0003781)3.11303415
25Drooling (HP:0002307)3.11303415
26Dysdiadochokinesis (HP:0002075)3.09646200
27Action tremor (HP:0002345)3.09404600
28Dysmetria (HP:0001310)3.02894608
29Anxiety (HP:0000739)2.94014407
30Abnormal eating behavior (HP:0100738)2.90922512
31Poor eye contact (HP:0000817)2.82842682
32Amyotrophic lateral sclerosis (HP:0007354)2.77865961
33Abnormal ciliary motility (HP:0012262)2.77434074
34Depression (HP:0000716)2.74903419
35Amblyopia (HP:0000646)2.73377114
36Progressive inability to walk (HP:0002505)2.69614031
37Dynein arm defect of respiratory motile cilia (HP:0012255)2.65501444
38Absent/shortened dynein arms (HP:0200106)2.65501444
39Polyphagia (HP:0002591)2.61262158
40Akinesia (HP:0002304)2.60818360
41Absent speech (HP:0001344)2.58355193
42Mutism (HP:0002300)2.52827212
43Impaired vibration sensation in the lower limbs (HP:0002166)2.52140652
44Scanning speech (HP:0002168)2.51288350
45Postural instability (HP:0002172)2.49196446
46Epileptiform EEG discharges (HP:0011182)2.46660404
47Abnormal social behavior (HP:0012433)2.44938925
48Impaired social interactions (HP:0000735)2.44938925
49Protruding tongue (HP:0010808)2.40178105
50Megalencephaly (HP:0001355)2.40138931
51Urinary bladder sphincter dysfunction (HP:0002839)2.39967855
52Abnormal respiratory epithelium morphology (HP:0012253)2.38075524
53Abnormal respiratory motile cilium morphology (HP:0005938)2.38075524
54Hemiplegia (HP:0002301)2.37522483
55Inability to walk (HP:0002540)2.36435486
56Papilledema (HP:0001085)2.34668322
57Gait imbalance (HP:0002141)2.34553818
58Aplasia involving bones of the extremities (HP:0009825)2.32704617
59Aplasia involving bones of the upper limbs (HP:0009823)2.32704617
60Aplasia of the phalanges of the hand (HP:0009802)2.32704617
61Abnormal respiratory motile cilium physiology (HP:0012261)2.32193115
62Impaired smooth pursuit (HP:0007772)2.31879222
63Generalized myoclonic seizures (HP:0002123)2.30149545
64Abnormality of the labia minora (HP:0012880)2.28404634
65Clumsiness (HP:0002312)2.27752302
66Genetic anticipation (HP:0003743)2.26560464
67Fetal akinesia sequence (HP:0001989)2.25781502
68Spastic tetraplegia (HP:0002510)2.25718557
69Blue irides (HP:0000635)2.24553564
70Status epilepticus (HP:0002133)2.22296380
71EEG with generalized epileptiform discharges (HP:0011198)2.21919992
72Stereotypic behavior (HP:0000733)2.21682668
73Psychosis (HP:0000709)2.20924546
74Bradykinesia (HP:0002067)2.20830912
75Retinal dysplasia (HP:0007973)2.20546974
76Abnormality of salivation (HP:0100755)2.20341413
77Lissencephaly (HP:0001339)2.17383207
78Hypothermia (HP:0002045)2.15986196
79Hypoplasia of the brainstem (HP:0002365)2.14407745
80Aplasia/Hypoplasia of the brainstem (HP:0007362)2.14407745
81Limb dystonia (HP:0002451)2.13907577
82Aplasia/Hypoplasia of the tibia (HP:0005772)2.12003586
83Ankle clonus (HP:0011448)2.11800169
84Failure to thrive in infancy (HP:0001531)2.10488161
85Poor suck (HP:0002033)2.10399992
86Pachygyria (HP:0001302)2.08144910
87Morphological abnormality of the pyramidal tract (HP:0002062)2.07110410
88Congenital primary aphakia (HP:0007707)2.00602115
89Genital tract atresia (HP:0001827)2.00493323
90Abnormality of ocular smooth pursuit (HP:0000617)2.00160420
91Agitation (HP:0000713)2.00159180
92Medial flaring of the eyebrow (HP:0010747)2.00067294
93Hypsarrhythmia (HP:0002521)1.99753042
94Fair hair (HP:0002286)1.97564035
95Abnormality of the corticospinal tract (HP:0002492)1.95273801
96Delusions (HP:0000746)1.94038079
97Intention tremor (HP:0002080)1.92411920
98Pancreatic fibrosis (HP:0100732)1.91973909
99Synostosis involving the elbow (HP:0003938)1.91798861
100Humeroradial synostosis (HP:0003041)1.91798861
101Syncope (HP:0001279)1.91285242
102Focal dystonia (HP:0004373)1.90915247
103Generalized hypopigmentation of hair (HP:0011358)1.90891652
104Thickened helices (HP:0000391)1.90008265
105Widely spaced teeth (HP:0000687)1.87815000
106Spastic gait (HP:0002064)1.87211777
107Split foot (HP:0001839)1.87034115
108Esotropia (HP:0000565)1.85955960
109Nephrogenic diabetes insipidus (HP:0009806)1.84030672
110Prolonged QT interval (HP:0001657)1.81439035
111Abnormal hair whorl (HP:0010721)1.80684758
112Specific learning disability (HP:0001328)1.80013051
113Lower limb muscle weakness (HP:0007340)1.79897642
114Short tibia (HP:0005736)1.79735408
115Incomplete penetrance (HP:0003829)1.79519606
116Inappropriate behavior (HP:0000719)1.79489232
117Birth length less than 3rd percentile (HP:0003561)1.78016177
118Urinary urgency (HP:0000012)1.77979440
119Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.77911774
120Gait ataxia (HP:0002066)1.77208685
121Pheochromocytoma (HP:0002666)1.75997552
122Molar tooth sign on MRI (HP:0002419)1.75918865
123Abnormality of midbrain morphology (HP:0002418)1.75918865
124Aplasia/Hypoplasia of the sternum (HP:0006714)1.75157668
125Impaired vibratory sensation (HP:0002495)1.74861095
126Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.74378885
127Intellectual disability, severe (HP:0010864)1.73694556
128Vaginal atresia (HP:0000148)1.73244668
129Torticollis (HP:0000473)1.73186818
130Peripheral hypomyelination (HP:0007182)1.72719534
131Sleep apnea (HP:0010535)1.72210178
132Rhinitis (HP:0012384)1.71747273
133Abnormality of the axillary hair (HP:0100134)1.70158001

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK35.04064214
2EPHA44.57329472
3TNIK3.41756421
4CASK3.29966156
5MAP2K72.87031284
6MAP3K42.83279379
7MAP3K92.80772820
8RIPK42.63762556
9MARK12.54973065
10MAP3K122.41889263
11MINK12.36450372
12NTRK22.29366362
13MAP3K112.25913545
14PNCK2.19144952
15MAP2K41.70554390
16MAPK131.68902439
17PLK21.65692753
18GRK51.53637548
19DAPK21.53635380
20MUSK1.48425514
21FES1.46799740
22CDK191.41246046
23DYRK21.40519865
24PAK61.40173556
25NTRK11.38048174
26DAPK11.37242796
27MAP3K131.36975162
28CDK51.35957163
29KSR11.33738311
30BMPR21.32455195
31PRPF4B1.31639487
32ARAF1.28052779
33KSR21.28033617
34* CAMK2A1.27917994
35CSNK1G31.26014463
36PRKCG1.24295171
37CAMK2B1.21034068
38PHKG11.21000273
39PHKG21.21000273
40SIK21.20111111
41CSNK1A1L1.16801839
42PRKD31.14114103
43CCNB11.06615158
44GRK71.04415145
45FRK1.03412681
46CSNK1G11.03090172
47CAMKK11.01877844
48FGR1.00324499
49NME10.99774523
50STK380.96588210
51CAMK10.95855352
52PTK2B0.95661885
53OXSR10.94616237
54CAMKK20.92544158
55EPHA30.91930420
56UHMK10.90614481
57BMPR1B0.90415957
58TNK20.89645577
59MAP3K50.89557598
60DYRK30.88092102
61TRIM280.84141482
62ACVR1B0.83479313
63DYRK1A0.83102669
64SGK20.81333099
65SGK4940.78861921
66SGK2230.78861921
67CAMK2D0.75690568
68SGK10.75353355
69PAK30.74194679
70CAMK40.73686011
71RAF10.72766931
72TAOK10.72525957
73CSNK1G20.70439966
74PRKCE0.70152658
75CDK180.68793033
76CDK140.67943117
77MAP3K20.65980602
78CDK150.65844530
79STK110.65082237
80CAMK2G0.64300415
81ADRBK20.62584105
82ERBB30.61440716
83MAP4K20.60398510
84LIMK10.60247874
85CDK30.60081404
86NEK60.58260689
87* PRKG10.58178037
88CDK11A0.57645299
89MARK20.55566708
90TYRO30.52619213
91MAP3K60.51076343
92TAOK30.50867537
93AKT30.50764670
94PINK10.49281631
95LATS20.48061046
96WNK30.46888399
97PRKCH0.46831838
98ADRBK10.45921658
99CAMK1G0.45627101
100FER0.45563735
101LMTK20.44694054
102SGK30.44358628
103CSNK1A10.43973707
104MAPK40.43265515
105PRKD20.42808665
106PRKACB0.41970740
107GRK60.41075523
108RPS6KA40.40858132
109SIK30.40768642
110ROCK20.40695071
111BCR0.40336607
112MAPKAPK50.39786358
113FYN0.39598230
114CSNK1D0.39353902
115PRKCZ0.38787512
116MAPK120.38716657
117BCKDK0.37737268
118* PRKACA0.37512244
119RET0.37484836
120* RPS6KA30.37405777
121STK160.37195318
122MAP3K10.37024816
123PDK10.36817442
124MAP3K70.36350293
125MAPK100.35995945
126CSNK1E0.35985019
127PKN10.35821854
128PRKCQ0.35780283
129PRKCB0.35165274
130* PRKCA0.34741941
131INSRR0.33950151
132TESK10.29212975
133WNK40.28790541

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050334.55113478
2* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.94169686
3Glutamatergic synapse_Homo sapiens_hsa047242.89168053
4Long-term potentiation_Homo sapiens_hsa047202.83667840
5Synaptic vesicle cycle_Homo sapiens_hsa047212.80103764
6Circadian entrainment_Homo sapiens_hsa047132.78931716
7* GABAergic synapse_Homo sapiens_hsa047272.77153525
8* Morphine addiction_Homo sapiens_hsa050322.61221504
9Amphetamine addiction_Homo sapiens_hsa050312.60082765
10Olfactory transduction_Homo sapiens_hsa047402.55466356
11Salivary secretion_Homo sapiens_hsa049702.37897377
12Taste transduction_Homo sapiens_hsa047422.22307332
13Dopaminergic synapse_Homo sapiens_hsa047282.09109640
14* Serotonergic synapse_Homo sapiens_hsa047261.97924228
15Insulin secretion_Homo sapiens_hsa049111.96972900
16Gastric acid secretion_Homo sapiens_hsa049711.95305760
17Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.92192643
18Renin secretion_Homo sapiens_hsa049241.91434797
19Long-term depression_Homo sapiens_hsa047301.87484375
20Calcium signaling pathway_Homo sapiens_hsa040201.85567218
21Cholinergic synapse_Homo sapiens_hsa047251.74148104
22Collecting duct acid secretion_Homo sapiens_hsa049661.72226275
23Aldosterone synthesis and secretion_Homo sapiens_hsa049251.71338328
24Cocaine addiction_Homo sapiens_hsa050301.71182275
25* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.62322157
26Oxytocin signaling pathway_Homo sapiens_hsa049211.56255938
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.41512344
28cAMP signaling pathway_Homo sapiens_hsa040241.34351748
29GnRH signaling pathway_Homo sapiens_hsa049121.34067600
30Cardiac muscle contraction_Homo sapiens_hsa042601.29076700
31Gap junction_Homo sapiens_hsa045401.26747959
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.22351119
33Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.22130886
34Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.21498185
35Oxidative phosphorylation_Homo sapiens_hsa001901.15927789
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.15750707
37Axon guidance_Homo sapiens_hsa043601.15545613
38Alzheimers disease_Homo sapiens_hsa050101.10566765
39Melanogenesis_Homo sapiens_hsa049161.08308884
40Phototransduction_Homo sapiens_hsa047441.02870042
41Phosphatidylinositol signaling system_Homo sapiens_hsa040701.01126371
42Estrogen signaling pathway_Homo sapiens_hsa049151.00981620
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.00931282
44Vibrio cholerae infection_Homo sapiens_hsa051100.98833656
45Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.97202973
46Pancreatic secretion_Homo sapiens_hsa049720.96309126
47cGMP-PKG signaling pathway_Homo sapiens_hsa040220.96288868
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.94535697
49Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.89713342
50Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.88528416
51Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.88433522
52Dorso-ventral axis formation_Homo sapiens_hsa043200.88049002
53ErbB signaling pathway_Homo sapiens_hsa040120.82490892
54Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.82153142
55Glioma_Homo sapiens_hsa052140.80793476
56Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.79638504
57Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.79168441
58Type II diabetes mellitus_Homo sapiens_hsa049300.77670674
59Thyroid hormone synthesis_Homo sapiens_hsa049180.76482708
60Phospholipase D signaling pathway_Homo sapiens_hsa040720.75700737
61Parkinsons disease_Homo sapiens_hsa050120.74570270
62Choline metabolism in cancer_Homo sapiens_hsa052310.73577202
63Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.71965749
64African trypanosomiasis_Homo sapiens_hsa051430.70066375
65Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.62725067
66MAPK signaling pathway_Homo sapiens_hsa040100.62076521
67Oocyte meiosis_Homo sapiens_hsa041140.62045265
68Dilated cardiomyopathy_Homo sapiens_hsa054140.61325810
69Butanoate metabolism_Homo sapiens_hsa006500.60583434
70Huntingtons disease_Homo sapiens_hsa050160.60012551
71Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.60000398
72Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.58076680
73Ras signaling pathway_Homo sapiens_hsa040140.57754792
74Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.57544779
75Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.55189254
76Protein export_Homo sapiens_hsa030600.54423627
77Type I diabetes mellitus_Homo sapiens_hsa049400.53982122
78Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.53582145
79Fatty acid biosynthesis_Homo sapiens_hsa000610.52330398
80Nitrogen metabolism_Homo sapiens_hsa009100.49343772
81Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.49066977
82Glucagon signaling pathway_Homo sapiens_hsa049220.46809813
83Regulation of autophagy_Homo sapiens_hsa041400.46089706
84Sphingolipid signaling pathway_Homo sapiens_hsa040710.45653450
85Circadian rhythm_Homo sapiens_hsa047100.45622861
86Wnt signaling pathway_Homo sapiens_hsa043100.45306631
87Rap1 signaling pathway_Homo sapiens_hsa040150.44800402
88Alcoholism_Homo sapiens_hsa050340.44563571
89Rheumatoid arthritis_Homo sapiens_hsa053230.43275480
90Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.40316050
91VEGF signaling pathway_Homo sapiens_hsa043700.40094062
92Histidine metabolism_Homo sapiens_hsa003400.39747213
93Carbohydrate digestion and absorption_Homo sapiens_hsa049730.39600595
94Inositol phosphate metabolism_Homo sapiens_hsa005620.39536601
95alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.38762063
96Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.38502424
97Ovarian steroidogenesis_Homo sapiens_hsa049130.37579512
98Bile secretion_Homo sapiens_hsa049760.34211248
99Prion diseases_Homo sapiens_hsa050200.34171080
100Arginine biosynthesis_Homo sapiens_hsa002200.32632546
101Neurotrophin signaling pathway_Homo sapiens_hsa047220.32353103
102SNARE interactions in vesicular transport_Homo sapiens_hsa041300.32035020
103Mineral absorption_Homo sapiens_hsa049780.30686448
104Thyroid hormone signaling pathway_Homo sapiens_hsa049190.30192761
105Glycerophospholipid metabolism_Homo sapiens_hsa005640.29574812
106Steroid biosynthesis_Homo sapiens_hsa001000.28512952
107Linoleic acid metabolism_Homo sapiens_hsa005910.27237830
108Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.26328817
109Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.26067383
110Ether lipid metabolism_Homo sapiens_hsa005650.24336572
111Phenylalanine metabolism_Homo sapiens_hsa003600.21757339
112Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.21740574
113beta-Alanine metabolism_Homo sapiens_hsa004100.21604709
114Tryptophan metabolism_Homo sapiens_hsa003800.20518116
115Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.20446440
116Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.20029264
117Chemokine signaling pathway_Homo sapiens_hsa040620.16819506
118Renal cell carcinoma_Homo sapiens_hsa052110.15955355
119Sphingolipid metabolism_Homo sapiens_hsa006000.15455923

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