GABRA1

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





Description: This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified 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)6.06417299
2vocalization behavior (GO:0071625)5.83042538
3synaptic vesicle exocytosis (GO:0016079)5.77493611
4neuronal action potential propagation (GO:0019227)5.67180906
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.59709373
6glutamate secretion (GO:0014047)5.51543227
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.43758731
8locomotory exploration behavior (GO:0035641)5.32891841
9regulation of synaptic vesicle exocytosis (GO:2000300)5.19361738
10ionotropic glutamate receptor signaling pathway (GO:0035235)5.16654257
11synaptic vesicle docking involved in exocytosis (GO:0016081)5.11456213
12synaptic vesicle maturation (GO:0016188)4.99064871
13positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.97448719
14regulation of glutamate receptor signaling pathway (GO:1900449)4.97283649
15regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.95708886
16glutamate receptor signaling pathway (GO:0007215)4.88453716
17protein localization to synapse (GO:0035418)4.87079645
18neurotransmitter secretion (GO:0007269)4.82695181
19neuron cell-cell adhesion (GO:0007158)4.80283316
20synaptic transmission, glutamatergic (GO:0035249)4.69633390
21neurotransmitter-gated ion channel clustering (GO:0072578)4.69190161
22L-amino acid import (GO:0043092)4.62995358
23* gamma-aminobutyric acid signaling pathway (GO:0007214)4.60739643
24negative regulation of synaptic transmission, GABAergic (GO:0032229)4.59624524
25regulation of synaptic vesicle transport (GO:1902803)4.57792370
26* neuron-neuron synaptic transmission (GO:0007270)4.55820418
27gamma-aminobutyric acid transport (GO:0015812)4.54529779
28positive regulation of synapse maturation (GO:0090129)4.45162073
29potassium ion homeostasis (GO:0055075)4.40442057
30cerebellar granule cell differentiation (GO:0021707)4.39898242
31cellular sodium ion homeostasis (GO:0006883)4.35136961
32cellular potassium ion homeostasis (GO:0030007)4.26716091
33G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.20457847
34amino acid import (GO:0043090)4.16636550
35regulation of long-term neuronal synaptic plasticity (GO:0048169)4.14819028
36exploration behavior (GO:0035640)4.13361136
37cerebellar Purkinje cell differentiation (GO:0021702)4.09202642
38regulation of excitatory postsynaptic membrane potential (GO:0060079)4.08257752
39long-term memory (GO:0007616)4.08105995
40potassium ion import (GO:0010107)4.06972945
41presynaptic membrane assembly (GO:0097105)4.04622234
42long-term synaptic potentiation (GO:0060291)4.04454476
43central nervous system myelination (GO:0022010)3.97769348
44axon ensheathment in central nervous system (GO:0032291)3.97769348
45negative regulation of dendrite morphogenesis (GO:0050774)3.95597720
46response to histamine (GO:0034776)3.95143393
47regulation of neuronal synaptic plasticity (GO:0048168)3.94746960
48membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.90437960
49regulation of postsynaptic membrane potential (GO:0060078)3.90203331
50regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.89021630
51cell communication by electrical coupling (GO:0010644)3.88303414
52neurotransmitter transport (GO:0006836)3.86449262
53presynaptic membrane organization (GO:0097090)3.83886018
54positive regulation of membrane potential (GO:0045838)3.80447762
55positive regulation of dendritic spine morphogenesis (GO:0061003)3.78936155
56regulation of synaptic transmission, glutamatergic (GO:0051966)3.70906153
57positive regulation of dendritic spine development (GO:0060999)3.70458124
58neuronal ion channel clustering (GO:0045161)3.68012705
59postsynaptic membrane organization (GO:0001941)3.65174291
60regulation of synaptic plasticity (GO:0048167)3.63690769
61synaptic vesicle endocytosis (GO:0048488)3.61782850
62cerebellar Purkinje cell layer development (GO:0021680)3.60653254
63regulation of neurotransmitter secretion (GO:0046928)3.58180244
64regulation of neurotransmitter levels (GO:0001505)3.57062447
65positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.56186674
66serotonin metabolic process (GO:0042428)3.55939364
67neuron recognition (GO:0008038)3.54339144
68C4-dicarboxylate transport (GO:0015740)3.52168122
69regulation of synapse maturation (GO:0090128)3.52024518
70acidic amino acid transport (GO:0015800)3.50374608
71transmission of nerve impulse (GO:0019226)3.49697494
72regulation of ARF protein signal transduction (GO:0032012)3.47762395
73layer formation in cerebral cortex (GO:0021819)3.46356510
74neurotransmitter uptake (GO:0001504)3.45834131
75neuromuscular process controlling posture (GO:0050884)3.45509778
76regulation of synapse structural plasticity (GO:0051823)3.44428121
77regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.42672332
78long term synaptic depression (GO:0060292)3.38462695
79membrane depolarization (GO:0051899)3.37279407
80sodium ion export (GO:0071436)3.35681549
81regulation of vesicle fusion (GO:0031338)3.28773148
82behavioral response to cocaine (GO:0048148)3.27787856
83regulation of dendritic spine morphogenesis (GO:0061001)3.27512721
84membrane depolarization during action potential (GO:0086010)3.26953321
85startle response (GO:0001964)3.25843918
86membrane hyperpolarization (GO:0060081)3.25177584
87activation of protein kinase A activity (GO:0034199)3.24572785
88regulation of neurotransmitter transport (GO:0051588)3.24127550
89negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.23480759
90positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.23310141
91behavioral defense response (GO:0002209)3.21261594
92behavioral fear response (GO:0001662)3.21261594
93* synaptic transmission (GO:0007268)3.20946036
94regulation of voltage-gated calcium channel activity (GO:1901385)3.20702354
95proline transport (GO:0015824)3.19973741
96cell differentiation in hindbrain (GO:0021533)3.19558667
97neuromuscular synaptic transmission (GO:0007274)3.16848996
98axonal fasciculation (GO:0007413)3.16223266
99establishment of synaptic vesicle localization (GO:0097480)3.16099563
100synaptic vesicle transport (GO:0048489)3.16099563
101primary amino compound metabolic process (GO:1901160)3.15802085
102cell communication involved in cardiac conduction (GO:0086065)3.15505941
103chemosensory behavior (GO:0007635)3.15243847
104positive regulation of neurotransmitter secretion (GO:0001956)3.15117355
105positive regulation of synaptic transmission (GO:0050806)3.14935789
106learning (GO:0007612)3.14769821
107fear response (GO:0042596)3.14499011
108synapse assembly (GO:0007416)3.10813934
109regulation of synaptic transmission (GO:0050804)3.10022069
110positive regulation of synapse assembly (GO:0051965)3.07885969
111dendritic spine morphogenesis (GO:0060997)3.05618305
112cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.05556808
113detection of calcium ion (GO:0005513)3.05255660
114positive regulation of neurotransmitter transport (GO:0051590)3.01171885
115mechanosensory behavior (GO:0007638)3.00296614
116adult walking behavior (GO:0007628)2.99555065
117neuromuscular process controlling balance (GO:0050885)2.95742750
118regulation of dendritic spine development (GO:0060998)2.94424040
119regulation of synaptic transmission, GABAergic (GO:0032228)2.93557653
120auditory behavior (GO:0031223)2.93280100
121regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.92432148
122neuromuscular process (GO:0050905)2.91640773
123energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.90397284
124ATP hydrolysis coupled proton transport (GO:0015991)2.90397284

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.08100841
2GBX2_23144817_ChIP-Seq_PC3_Human4.19002755
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.18901363
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.17408965
5* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.06495770
6REST_21632747_ChIP-Seq_MESCs_Mouse2.74818557
7* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.65811673
8* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.65484532
9* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.65484532
10* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.56835253
11* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.50785856
12TAF15_26573619_Chip-Seq_HEK293_Human2.50451857
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.47348911
14* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.46120140
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.43255902
16* RARB_27405468_Chip-Seq_BRAIN_Mouse2.39523697
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.39080571
18* EED_16625203_ChIP-ChIP_MESCs_Mouse2.29145841
19DROSHA_22980978_ChIP-Seq_HELA_Human2.28932371
20REST_18959480_ChIP-ChIP_MESCs_Mouse2.24330563
21CTBP2_25329375_ChIP-Seq_LNCAP_Human2.16682987
22GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.13537872
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.12112628
24EZH2_27294783_Chip-Seq_ESCs_Mouse2.11748056
25* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.11283333
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.09939488
27RNF2_27304074_Chip-Seq_ESCs_Mouse2.09614360
28CTBP1_25329375_ChIP-Seq_LNCAP_Human2.01644294
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.88708640
30ZFP57_27257070_Chip-Seq_ESCs_Mouse1.87580369
31* SMAD4_21799915_ChIP-Seq_A2780_Human1.87205628
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.87014912
33CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.75815852
34AR_21572438_ChIP-Seq_LNCaP_Human1.72828970
35MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.72825705
36TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.71228638
37P300_19829295_ChIP-Seq_ESCs_Human1.67965672
38THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.61645382
39SMAD_19615063_ChIP-ChIP_OVARY_Human1.57596230
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.57047183
41GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.48166997
42ZNF274_21170338_ChIP-Seq_K562_Hela1.43618711
43* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.43405467
44SMAD3_21741376_ChIP-Seq_EPCs_Human1.43216065
45ERG_21242973_ChIP-ChIP_JURKAT_Human1.42940672
46AR_25329375_ChIP-Seq_VCAP_Human1.42221914
47BMI1_23680149_ChIP-Seq_NPCS_Mouse1.41919757
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41805963
49FUS_26573619_Chip-Seq_HEK293_Human1.41789629
50SOX2_21211035_ChIP-Seq_LN229_Gbm1.38793241
51PIAS1_25552417_ChIP-Seq_VCAP_Human1.38275845
52TOP2B_26459242_ChIP-Seq_MCF-7_Human1.36394891
53EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.36051560
54CBX2_27304074_Chip-Seq_ESCs_Mouse1.34577580
55OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32463650
56NR3C1_23031785_ChIP-Seq_PC12_Mouse1.31693177
57STAT3_23295773_ChIP-Seq_U87_Human1.30355416
58* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.30052945
59VDR_22108803_ChIP-Seq_LS180_Human1.26224271
60SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24919643
61TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.24143057
62ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.22987857
63TCF4_23295773_ChIP-Seq_U87_Human1.21626685
64* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20598555
65IGF1R_20145208_ChIP-Seq_DFB_Human1.19201278
66* AR_19668381_ChIP-Seq_PC3_Human1.18103238
67RNF2_27304074_Chip-Seq_NSC_Mouse1.17021201
68PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.14913947
69UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.14020227
70RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.13224374
71AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.12860531
72P53_22127205_ChIP-Seq_FIBROBLAST_Human1.12691567
73ARNT_22903824_ChIP-Seq_MCF-7_Human1.12436024
74* RING1B_27294783_Chip-Seq_ESCs_Mouse1.12200919
75ZFP281_18757296_ChIP-ChIP_E14_Mouse1.10223115
76MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.08520500
77RUNX2_22187159_ChIP-Seq_PCA_Human1.07445596
78TP53_16413492_ChIP-PET_HCT116_Human1.07336795
79ER_23166858_ChIP-Seq_MCF-7_Human1.06681037
80KDM2B_26808549_Chip-Seq_K562_Human1.04372764
81PRDM14_20953172_ChIP-Seq_ESCs_Human1.04356623
82GATA1_26923725_Chip-Seq_HPCs_Mouse1.03837534
83CTNNB1_20460455_ChIP-Seq_HCT116_Human1.02459851
84YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02425542
85TET1_21490601_ChIP-Seq_MESCs_Mouse1.02194609
86ZNF217_24962896_ChIP-Seq_MCF-7_Human1.01451849
87NANOG_18555785_Chip-Seq_ESCs_Mouse1.01234567
88AHR_22903824_ChIP-Seq_MCF-7_Human1.00749946
89DNAJC2_21179169_ChIP-ChIP_NT2_Human1.00510991
90JUN_21703547_ChIP-Seq_K562_Human0.97993588
91TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.97990552
92BCAT_22108803_ChIP-Seq_LS180_Human0.95531851
93LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95515322
94CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95507849
95CDX2_19796622_ChIP-Seq_MESCs_Mouse0.95161942
96NR3C1_21868756_ChIP-Seq_MCF10A_Human0.93435470
97POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.93301925
98TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93301925
99WT1_25993318_ChIP-Seq_PODOCYTE_Human0.93070742
100SMAD3_21741376_ChIP-Seq_ESCs_Human0.92565633
101TP53_18474530_ChIP-ChIP_U2OS_Human0.92210506
102RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.91562485
103RING1B_27294783_Chip-Seq_NPCs_Mouse0.91407412
104EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.90655519
105FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.89399251
106SMAD3_21741376_ChIP-Seq_HESCs_Human0.87791791
107RXR_22108803_ChIP-Seq_LS180_Human0.87501624
108SOX9_26525672_Chip-Seq_HEART_Mouse0.87254045
109TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86631658
110ZFP281_27345836_Chip-Seq_ESCs_Mouse0.85581335
111PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.85180957
112SRY_22984422_ChIP-ChIP_TESTIS_Rat0.83814574
113CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.81797096
114SMAD4_21741376_ChIP-Seq_HESCs_Human0.81445262
115BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.81277820
116SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.81196830
117DPY_21335234_ChIP-Seq_ESCs_Mouse0.79183650
118KDM2B_26808549_Chip-Seq_REH_Human0.79030143
119MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.78930809
120SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.78394498

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.09299698
2MP0003880_abnormal_central_pattern5.43194795
3* MP0003635_abnormal_synaptic_transmissio4.26426617
4MP0009046_muscle_twitch4.00829389
5* MP0009745_abnormal_behavioral_response3.66721661
6* MP0002064_seizures3.48103922
7MP0004270_analgesia3.36329023
8* MP0002063_abnormal_learning/memory/cond3.33712813
9MP0001968_abnormal_touch/_nociception3.25915172
10MP0002272_abnormal_nervous_system2.97789435
11* MP0002572_abnormal_emotion/affect_behav2.94111119
12MP0002736_abnormal_nociception_after2.68938757
13MP0001501_abnormal_sleep_pattern2.67898175
14MP0002734_abnormal_mechanical_nocicepti2.59319877
15* MP0001486_abnormal_startle_reflex2.45070394
16MP0005423_abnormal_somatic_nervous2.36187873
17MP0002735_abnormal_chemical_nociception2.32330278
18* MP0002067_abnormal_sensory_capabilities2.26900941
19MP0008569_lethality_at_weaning2.17822463
20MP0002822_catalepsy2.08743378
21* MP0001440_abnormal_grooming_behavior2.04059392
22MP0001970_abnormal_pain_threshold1.89558270
23MP0002733_abnormal_thermal_nociception1.88842472
24MP0003329_amyloid_beta_deposits1.88466891
25MP0002184_abnormal_innervation1.87621503
26MP0003879_abnormal_hair_cell1.83144042
27MP0009780_abnormal_chondrocyte_physiolo1.80958551
28MP0001984_abnormal_olfaction1.78237777
29MP0005386_behavior/neurological_phenoty1.74415303
30MP0004924_abnormal_behavior1.74415303
31* MP0002557_abnormal_social/conspecific_i1.66408734
32MP0005646_abnormal_pituitary_gland1.65179371
33MP0003787_abnormal_imprinting1.63941073
34MP0006276_abnormal_autonomic_nervous1.56189028
35MP0004811_abnormal_neuron_physiology1.52179214
36MP0000778_abnormal_nervous_system1.49612080
37MP0004142_abnormal_muscle_tone1.49357372
38MP0002909_abnormal_adrenal_gland1.47566623
39MP0002837_dystrophic_cardiac_calcinosis1.47493512
40MP0001188_hyperpigmentation1.45113280
41* MP0002066_abnormal_motor_capabilities/c1.44817604
42MP0000955_abnormal_spinal_cord1.38142688
43MP0004145_abnormal_muscle_electrophysio1.36231386
44MP0001502_abnormal_circadian_rhythm1.35133396
45MP0002882_abnormal_neuron_morphology1.33620133
46MP0003123_paternal_imprinting1.31951643
47MP0003633_abnormal_nervous_system1.31458709
48MP0004858_abnormal_nervous_system1.28911785
49MP0001529_abnormal_vocalization1.23355299
50MP0003122_maternal_imprinting1.21824001
51MP0004885_abnormal_endolymph1.19541287
52MP0005551_abnormal_eye_electrophysiolog1.18342879
53MP0000013_abnormal_adipose_tissue1.17356007
54MP0003631_nervous_system_phenotype1.15485596
55MP0010386_abnormal_urinary_bladder1.11374400
56MP0000751_myopathy1.08434782
57MP0001905_abnormal_dopamine_level1.07157226
58MP0004742_abnormal_vestibular_system1.06476234
59MP0004215_abnormal_myocardial_fiber1.04802411
60MP0002152_abnormal_brain_morphology1.02634695
61MP0002229_neurodegeneration1.00510798
62MP0005645_abnormal_hypothalamus_physiol0.99913765
63MP0004484_altered_response_of0.95487395
64MP0001963_abnormal_hearing_physiology0.93322325
65MP0002876_abnormal_thyroid_physiology0.91023545
66MP0002069_abnormal_eating/drinking_beha0.90077763
67MP0003632_abnormal_nervous_system0.88970606
68MP0004085_abnormal_heartbeat0.86032186
69MP0000604_amyloidosis0.85392908
70MP0000569_abnormal_digit_pigmentation0.82838840
71* MP0008874_decreased_physiological_sensi0.81956139
72MP0001348_abnormal_lacrimal_gland0.81835697
73MP0005535_abnormal_body_temperature0.80107455
74MP0004043_abnormal_pH_regulation0.79727983
75MP0004233_abnormal_muscle_weight0.79577058
76MP0001177_atelectasis0.78506406
77MP0005394_taste/olfaction_phenotype0.77987852
78MP0005499_abnormal_olfactory_system0.77987852
79* MP0008872_abnormal_physiological_respon0.77709711
80MP0002090_abnormal_vision0.72875631
81MP0002752_abnormal_somatic_nervous0.72249446
82MP0001485_abnormal_pinna_reflex0.69452216
83MP0003646_muscle_fatigue0.66421847
84MP0003690_abnormal_glial_cell0.64576739
85MP0000920_abnormal_myelination0.64503813
86MP0003634_abnormal_glial_cell0.64429119
87MP0001346_abnormal_lacrimal_gland0.63566772
88MP0000631_abnormal_neuroendocrine_gland0.62253334
89MP0001664_abnormal_digestion0.61639314
90MP0003121_genomic_imprinting0.61343370
91MP0003137_abnormal_impulse_conducting0.59909719
92MP0005167_abnormal_blood-brain_barrier0.59831875
93MP0005171_absent_coat_pigmentation0.59799795
94MP0005623_abnormal_meninges_morphology0.57524870
95MP0001943_abnormal_respiration0.56994470
96MP0004510_myositis0.54846149
97MP0002638_abnormal_pupillary_reflex0.54531882
98MP0004147_increased_porphyrin_level0.53241106
99MP0008877_abnormal_DNA_methylation0.52421662
100* MP0010768_mortality/aging0.52416572
101MP0001986_abnormal_taste_sensitivity0.52295318
102* MP0002082_postnatal_lethality0.51882998
103* MP0010770_preweaning_lethality0.51882998
104* MP0010769_abnormal_survival0.51780888
105MP0001765_abnormal_ion_homeostasis0.51068979
106MP0000026_abnormal_inner_ear0.50938218
107* MP0003956_abnormal_body_size0.49824442
108MP0003075_altered_response_to0.49819963
109MP0004130_abnormal_muscle_cell0.46291919
110MP0000566_synostosis0.44163165
111MP0006035_abnormal_mitochondrial_morpho0.42997244
112MP0008875_abnormal_xenobiotic_pharmacok0.42225894
113MP0003861_abnormal_nervous_system0.41447309
114MP0001299_abnormal_eye_distance/0.41389400

Predicted human phenotypes

RankGene SetZ-score
1* Focal motor seizures (HP:0011153)8.22417785
2* Focal seizures (HP:0007359)5.85796382
3Myokymia (HP:0002411)5.65395878
4* Epileptic encephalopathy (HP:0200134)5.56012843
5* Atonic seizures (HP:0010819)5.46001001
6Visual hallucinations (HP:0002367)5.25528503
7* Febrile seizures (HP:0002373)5.21717512
8Hyperventilation (HP:0002883)4.96506338
9Progressive cerebellar ataxia (HP:0002073)4.86944948
10* Absence seizures (HP:0002121)4.74517050
11Generalized tonic-clonic seizures (HP:0002069)4.55549212
12Gaze-evoked nystagmus (HP:0000640)4.39471329
13* Dialeptic seizures (HP:0011146)4.31992238
14Broad-based gait (HP:0002136)4.27132108
15Action tremor (HP:0002345)3.82457927
16Dysdiadochokinesis (HP:0002075)3.71982296
17Poor eye contact (HP:0000817)3.71440698
18Truncal ataxia (HP:0002078)3.50798669
19Abnormal social behavior (HP:0012433)3.47030798
20Impaired social interactions (HP:0000735)3.47030798
21Cerebral hypomyelination (HP:0006808)3.39719215
22Dysmetric saccades (HP:0000641)3.36391557
23Scanning speech (HP:0002168)3.30172477
24Limb dystonia (HP:0002451)3.26776736
25Impaired smooth pursuit (HP:0007772)3.22120929
26Dysmetria (HP:0001310)3.20172991
27Amblyopia (HP:0000646)3.15117394
28Abnormal eating behavior (HP:0100738)3.05501852
29Progressive inability to walk (HP:0002505)3.04140656
30Diplopia (HP:0000651)3.01845592
31Abnormality of binocular vision (HP:0011514)3.01845592
32Depression (HP:0000716)2.99405458
33Tetraplegia (HP:0002445)2.97720795
34Degeneration of the lateral corticospinal tracts (HP:0002314)2.96261270
35Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.96261270
36Impaired vibration sensation in the lower limbs (HP:0002166)2.96242450
37Excessive salivation (HP:0003781)2.94364787
38Drooling (HP:0002307)2.94364787
39Hemiparesis (HP:0001269)2.91138410
40Epileptiform EEG discharges (HP:0011182)2.88131991
41Obstructive sleep apnea (HP:0002870)2.86533199
42Anxiety (HP:0000739)2.84382596
43Absent speech (HP:0001344)2.81576612
44Abnormality of ocular smooth pursuit (HP:0000617)2.80343430
45Hemiplegia (HP:0002301)2.79966765
46Inability to walk (HP:0002540)2.78769408
47Supranuclear gaze palsy (HP:0000605)2.69869376
48Urinary bladder sphincter dysfunction (HP:0002839)2.65851688
49Genetic anticipation (HP:0003743)2.65316771
50EEG with generalized epileptiform discharges (HP:0011198)2.62385355
51Protruding tongue (HP:0010808)2.55725723
52Akinesia (HP:0002304)2.55328022
53Postural instability (HP:0002172)2.54464885
54Craniofacial dystonia (HP:0012179)2.51882342
55Abnormality of the lower motor neuron (HP:0002366)2.51359414
56Sleep apnea (HP:0010535)2.50490557
57Fetal akinesia sequence (HP:0001989)2.43102235
58Stereotypic behavior (HP:0000733)2.39086426
59Intention tremor (HP:0002080)2.37128416
60Hypsarrhythmia (HP:0002521)2.35252505
61Pheochromocytoma (HP:0002666)2.34152620
62Generalized myoclonic seizures (HP:0002123)2.33175636
63Ankle clonus (HP:0011448)2.32220592
64Clonus (HP:0002169)2.31339834
65Bradykinesia (HP:0002067)2.30146211
66* Status epilepticus (HP:0002133)2.27170894
67Morphological abnormality of the pyramidal tract (HP:0002062)2.25095582
68Gait ataxia (HP:0002066)2.24332350
69Blue irides (HP:0000635)2.23422282
70Rigidity (HP:0002063)2.23105076
71Mutism (HP:0002300)2.20935553
72Impaired vibratory sensation (HP:0002495)2.18142772
73Polyphagia (HP:0002591)2.18044196
74CNS hypomyelination (HP:0003429)2.17761920
75Spastic gait (HP:0002064)2.15219657
76Urinary urgency (HP:0000012)2.14971554
77Cerebral inclusion bodies (HP:0100314)2.13272004
78Neuroendocrine neoplasm (HP:0100634)2.11552053
79Peripheral hypomyelination (HP:0007182)2.11196620
80Insidious onset (HP:0003587)2.08201217
81Termporal pattern (HP:0011008)2.08201217
82Apathy (HP:0000741)2.08085946
83Gait imbalance (HP:0002141)2.07743499
84Choreoathetosis (HP:0001266)2.07176359
85Neurofibrillary tangles (HP:0002185)2.05345670
86Annular pancreas (HP:0001734)2.02984247
87Spastic tetraparesis (HP:0001285)2.02503474
88Abnormal hair whorl (HP:0010721)2.00827309
89Memory impairment (HP:0002354)1.98926487
90Psychosis (HP:0000709)1.98505877
91Incomplete penetrance (HP:0003829)1.98111169
92Ventricular fibrillation (HP:0001663)1.95985400
93Increased circulating renin level (HP:0000848)1.95389830
94Abnormality of saccadic eye movements (HP:0000570)1.95148914
95Abnormality of salivation (HP:0100755)1.94400192
96Horizontal nystagmus (HP:0000666)1.92581101
97Rapidly progressive (HP:0003678)1.90565479
98Bundle branch block (HP:0011710)1.90449758
99Abnormality of the corticospinal tract (HP:0002492)1.90376916
100Limb ataxia (HP:0002070)1.89285059
101Congenital primary aphakia (HP:0007707)1.88214913
102Specific learning disability (HP:0001328)1.87652490
103Thickened helices (HP:0000391)1.86457464
104Diminished motivation (HP:0000745)1.84599959
105Focal dystonia (HP:0004373)1.84074319
106Dysarthria (HP:0001260)1.84001724
107Resting tremor (HP:0002322)1.83868184
108Postural tremor (HP:0002174)1.83413673
109Delusions (HP:0000746)1.82926005
110Lower limb asymmetry (HP:0100559)1.81247439
111Torticollis (HP:0000473)1.79611402
112Papilledema (HP:0001085)1.79205459
113Generalized hypopigmentation of hair (HP:0011358)1.78764452
114Neuronal loss in central nervous system (HP:0002529)1.78603314
115Insomnia (HP:0100785)1.78392852
116Unsteady gait (HP:0002317)1.77976315
117Medial flaring of the eyebrow (HP:0010747)1.77075940
118Hyperthyroidism (HP:0000836)1.76787365
119Fair hair (HP:0002286)1.76504957
120Esotropia (HP:0000565)1.76373471
121Narrow nasal bridge (HP:0000446)1.75682890
122Spastic tetraplegia (HP:0002510)1.75211786
123Agitation (HP:0000713)1.72471441
124Slow progression (HP:0003677)1.72470061
125Widely spaced teeth (HP:0000687)1.72072570
126Lower limb muscle weakness (HP:0007340)1.71633329
127Nephrogenic diabetes insipidus (HP:0009806)1.70814415

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.30592954
2EPHA44.25196098
3CASK3.86462993
4MAP3K43.37896308
5MAP3K93.18232213
6MAP2K73.09828657
7DAPK22.69487858
8RIPK42.65022229
9MAP3K122.59564863
10MINK12.31535186
11CDK192.26478694
12MAP2K42.25310803
13CAMKK22.01707188
14PLK21.98194168
15DAPK11.93296994
16PAK61.89003543
17NTRK21.75795789
18PNCK1.73388178
19MARK11.71046272
20CAMKK11.67668971
21KSR21.61145442
22PRPF4B1.50793527
23CCNB11.47904576
24GRK51.44179205
25NTRK11.42765989
26ARAF1.42672541
27KSR11.38278921
28AKT31.37529205
29CDK51.35732638
30PRKCG1.32875714
31OXSR11.32193233
32TNIK1.30326078
33STK381.21829602
34SIK21.19883947
35FES1.18007219
36BMPR21.17042916
37MAP3K131.13399334
38RIPK11.12933203
39CAMK2A1.09179620
40PRKD30.98121355
41MAPK130.97642958
42CAMK2B0.97594034
43SGK4940.96082320
44SGK2230.96082320
45SGK20.96057956
46NME10.91997355
47CAMK10.89516419
48CDK180.85998035
49PTK2B0.85382792
50ALK0.83391072
51CDK150.82818149
52CDK140.80132092
53RAF10.78706714
54UHMK10.77348290
55STK110.73764342
56TYRO30.71698300
57TNK20.71645318
58CDK11A0.71079358
59PRKCE0.70730267
60SGK10.70444538
61PINK10.70323360
62SGK30.70247438
63MAP3K20.68961312
64MARK20.68413310
65PDK30.67941684
66PDK40.67941684
67BRAF0.64755899
68LIMK10.64739973
69WNK10.64302909
70DYRK1A0.63310777
71CAMK2D0.63250226
72PDK10.59304958
73CAMK2G0.59100328
74MUSK0.58756517
75PRKCH0.58315790
76PKN10.57923124
77MAP3K110.57798643
78SIK30.56048575
79PDPK10.53821403
80RET0.53731327
81FER0.53454101
82MAP3K60.51537223
83TSSK60.51257270
84BRSK10.50153557
85DAPK30.46883500
86PRKG10.46149691
87ROCK20.46119019
88CAMK1G0.45762491
89MAP3K10.45588738
90CAMK40.45580204
91PAK30.45477388
92NEK10.44520408
93RPS6KA30.43574280
94FGFR20.43172430
95PHKG20.43075764
96PHKG10.43075764
97MAPK120.42438760
98FGR0.42383735
99TESK10.39536995
100NEK60.39268048
101CDK30.37153736
102FYN0.36834684
103GRK70.35788482
104PRKACA0.35460405
105LATS20.35311245
106PRKCB0.35187375
107MAPK100.35094955
108PRKCZ0.34952317
109MAP2K10.34846798
110CSNK1G20.33811128
111CSNK1A1L0.33547352
112PRKCA0.32543709
113PRKG20.32464638
114CSNK1A10.32255403
115CSNK1D0.31856355
116STK390.31014789
117CSNK1E0.29621410
118SRC0.26149795
119CSNK1G30.25876346

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050334.43385650
2Synaptic vesicle cycle_Homo sapiens_hsa047213.64645704
3* Retrograde endocannabinoid signaling_Homo sapiens_hsa047233.02667958
4* GABAergic synapse_Homo sapiens_hsa047272.90002030
5Long-term potentiation_Homo sapiens_hsa047202.83151788
6Circadian entrainment_Homo sapiens_hsa047132.71576006
7Glutamatergic synapse_Homo sapiens_hsa047242.68235174
8* Morphine addiction_Homo sapiens_hsa050322.62094073
9Olfactory transduction_Homo sapiens_hsa047402.42457493
10Amphetamine addiction_Homo sapiens_hsa050312.39292550
11Salivary secretion_Homo sapiens_hsa049702.30861055
12Collecting duct acid secretion_Homo sapiens_hsa049662.28818674
13Dopaminergic synapse_Homo sapiens_hsa047282.06902588
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.04345071
15Long-term depression_Homo sapiens_hsa047301.99739619
16* Taste transduction_Homo sapiens_hsa047421.97972382
17Insulin secretion_Homo sapiens_hsa049111.95129577
18Gastric acid secretion_Homo sapiens_hsa049711.80089090
19Renin secretion_Homo sapiens_hsa049241.73884930
20Serotonergic synapse_Homo sapiens_hsa047261.72460072
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.68720296
22Calcium signaling pathway_Homo sapiens_hsa040201.67205451
23Cholinergic synapse_Homo sapiens_hsa047251.66433392
24Oxytocin signaling pathway_Homo sapiens_hsa049211.63464021
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.53142343
26Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.41069127
27Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.40833185
28Vibrio cholerae infection_Homo sapiens_hsa051101.29832014
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.29053376
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.27190014
31GnRH signaling pathway_Homo sapiens_hsa049121.26618612
32Cocaine addiction_Homo sapiens_hsa050301.23288420
33Cardiac muscle contraction_Homo sapiens_hsa042601.21980644
34cAMP signaling pathway_Homo sapiens_hsa040241.21200703
35Gap junction_Homo sapiens_hsa045401.20808324
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.20205410
37* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.18928791
38Vitamin B6 metabolism_Homo sapiens_hsa007501.13205339
39Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.09960821
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.08657525
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.04898379
42Nitrogen metabolism_Homo sapiens_hsa009101.04529754
43Estrogen signaling pathway_Homo sapiens_hsa049151.03818804
44Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.02922575
45Type II diabetes mellitus_Homo sapiens_hsa049301.01505365
46Oxidative phosphorylation_Homo sapiens_hsa001900.99597027
47Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.96997233
48Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.95119235
49Pancreatic secretion_Homo sapiens_hsa049720.92119781
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.90576825
51Alzheimers disease_Homo sapiens_hsa050100.87319489
52Melanogenesis_Homo sapiens_hsa049160.85691832
53Glioma_Homo sapiens_hsa052140.84252157
54Phototransduction_Homo sapiens_hsa047440.83428433
55ErbB signaling pathway_Homo sapiens_hsa040120.82742993
56Axon guidance_Homo sapiens_hsa043600.80351017
57Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.77058221
58Oocyte meiosis_Homo sapiens_hsa041140.75534277
59Type I diabetes mellitus_Homo sapiens_hsa049400.74989919
60Thyroid hormone synthesis_Homo sapiens_hsa049180.74804625
61Dilated cardiomyopathy_Homo sapiens_hsa054140.67979951
62Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.64880771
63Phospholipase D signaling pathway_Homo sapiens_hsa040720.62834241
64MAPK signaling pathway_Homo sapiens_hsa040100.62785523
65Inositol phosphate metabolism_Homo sapiens_hsa005620.62601626
66Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.60224759
67Circadian rhythm_Homo sapiens_hsa047100.59546563
68Prion diseases_Homo sapiens_hsa050200.57607741
69Parkinsons disease_Homo sapiens_hsa050120.55051599
70Choline metabolism in cancer_Homo sapiens_hsa052310.54754384
71Dorso-ventral axis formation_Homo sapiens_hsa043200.54676569
72Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.54028958
73Glucagon signaling pathway_Homo sapiens_hsa049220.53618897
74Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.51968966
75Rheumatoid arthritis_Homo sapiens_hsa053230.51037600
76Carbohydrate digestion and absorption_Homo sapiens_hsa049730.50263106
77Fatty acid biosynthesis_Homo sapiens_hsa000610.50005792
78Mineral absorption_Homo sapiens_hsa049780.45148163
79African trypanosomiasis_Homo sapiens_hsa051430.42881843
80Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.42464955
81Ras signaling pathway_Homo sapiens_hsa040140.42221883
82Bile secretion_Homo sapiens_hsa049760.41933859
83VEGF signaling pathway_Homo sapiens_hsa043700.40517094
84Huntingtons disease_Homo sapiens_hsa050160.39793479
85Rap1 signaling pathway_Homo sapiens_hsa040150.39754021
86Alcoholism_Homo sapiens_hsa050340.33951388
87Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.33475301
88Arginine biosynthesis_Homo sapiens_hsa002200.33120732
89Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.33037300
90Neurotrophin signaling pathway_Homo sapiens_hsa047220.32374097
91Sphingolipid signaling pathway_Homo sapiens_hsa040710.32126412
92Thyroid hormone signaling pathway_Homo sapiens_hsa049190.31637130
93mTOR signaling pathway_Homo sapiens_hsa041500.29904793
94Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.29461066
95Arginine and proline metabolism_Homo sapiens_hsa003300.28600190
96Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.28440411
97Longevity regulating pathway - mammal_Homo sapiens_hsa042110.26173587
98Butanoate metabolism_Homo sapiens_hsa006500.26121405
99Ovarian steroidogenesis_Homo sapiens_hsa049130.26015128
100SNARE interactions in vesicular transport_Homo sapiens_hsa041300.25165133
101Wnt signaling pathway_Homo sapiens_hsa043100.24029858
102Endocytosis_Homo sapiens_hsa041440.23688921
103Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.23504721
104Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.22683047
105Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.22532168
1062-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.20344512
107Insulin signaling pathway_Homo sapiens_hsa049100.19836833
108Histidine metabolism_Homo sapiens_hsa003400.18448479
109Regulation of autophagy_Homo sapiens_hsa041400.16618339
110Tight junction_Homo sapiens_hsa045300.14241490
111beta-Alanine metabolism_Homo sapiens_hsa004100.12838690
112Glycerophospholipid metabolism_Homo sapiens_hsa005640.12529370

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