GABRD

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: Gamma-aminobutyric acid (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. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.06193732
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.05934593
3locomotory exploration behavior (GO:0035641)5.90237410
4neuronal action potential propagation (GO:0019227)5.76867231
5synaptic vesicle maturation (GO:0016188)5.69075078
6vocalization behavior (GO:0071625)5.48922195
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.41031772
8synaptic vesicle exocytosis (GO:0016079)5.40114235
9positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.28468483
10ionotropic glutamate receptor signaling pathway (GO:0035235)5.27771052
11synaptic vesicle docking involved in exocytosis (GO:0016081)5.12453612
12regulation of synaptic vesicle exocytosis (GO:2000300)5.00668697
13glutamate secretion (GO:0014047)4.99965058
14gamma-aminobutyric acid transport (GO:0015812)4.97558216
15cerebellar granule cell differentiation (GO:0021707)4.97545350
16neurotransmitter secretion (GO:0007269)4.94866228
17regulation of glutamate receptor signaling pathway (GO:1900449)4.90870331
18L-amino acid import (GO:0043092)4.87847561
19synaptic transmission, glutamatergic (GO:0035249)4.83168877
20glutamate receptor signaling pathway (GO:0007215)4.83145709
21neurotransmitter-gated ion channel clustering (GO:0072578)4.82017542
22neuron-neuron synaptic transmission (GO:0007270)4.77934656
23membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.65186178
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.64785879
25regulation of synapse structural plasticity (GO:0051823)4.46407901
26regulation of synaptic vesicle transport (GO:1902803)4.42882191
27potassium ion homeostasis (GO:0055075)4.42761268
28amino acid import (GO:0043090)4.39518270
29long-term memory (GO:0007616)4.37906254
30regulation of neuronal synaptic plasticity (GO:0048168)4.35464594
31protein localization to synapse (GO:0035418)4.34328581
32regulation of excitatory postsynaptic membrane potential (GO:0060079)4.32105471
33prepulse inhibition (GO:0060134)4.27076836
34potassium ion import (GO:0010107)4.27070852
35positive regulation of synapse maturation (GO:0090129)4.26699924
36cerebellar Purkinje cell differentiation (GO:0021702)4.25329129
37gamma-aminobutyric acid signaling pathway (GO:0007214)4.24595638
38positive regulation of dendritic spine development (GO:0060999)4.22785159
39cellular potassium ion homeostasis (GO:0030007)4.22044274
40negative regulation of synaptic transmission, GABAergic (GO:0032229)4.21573320
41G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.21058783
42exploration behavior (GO:0035640)4.18078848
43positive regulation of membrane potential (GO:0045838)4.09026357
44regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.05752697
45regulation of ARF protein signal transduction (GO:0032012)4.05743790
46regulation of postsynaptic membrane potential (GO:0060078)4.01746712
47cell communication by electrical coupling (GO:0010644)4.01239146
48proline transport (GO:0015824)3.95974072
49neuromuscular process controlling posture (GO:0050884)3.95046321
50cellular sodium ion homeostasis (GO:0006883)3.94537829
51axon ensheathment in central nervous system (GO:0032291)3.94406738
52central nervous system myelination (GO:0022010)3.94406738
53long-term synaptic potentiation (GO:0060291)3.93476313
54neuromuscular process controlling balance (GO:0050885)3.90031358
55postsynaptic membrane organization (GO:0001941)3.89177053
56positive regulation of dendritic spine morphogenesis (GO:0061003)3.88385019
57regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.84563449
58auditory behavior (GO:0031223)3.84214481
59regulation of synaptic transmission, glutamatergic (GO:0051966)3.82454921
60regulation of synaptic plasticity (GO:0048167)3.81760715
61transmission of nerve impulse (GO:0019226)3.81138564
62negative regulation of dendrite morphogenesis (GO:0050774)3.80659595
63neurotransmitter transport (GO:0006836)3.79629558
64sodium ion export (GO:0071436)3.79093074
65behavioral response to cocaine (GO:0048148)3.77687982
66striatum development (GO:0021756)3.76681310
67neuron cell-cell adhesion (GO:0007158)3.73342337
68positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.72119555
69regulation of dendritic spine morphogenesis (GO:0061001)3.69623017
70regulation of neurotransmitter levels (GO:0001505)3.66237896
71long term synaptic depression (GO:0060292)3.64156306
72regulation of neurotransmitter secretion (GO:0046928)3.63633703
73regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.63574695
74layer formation in cerebral cortex (GO:0021819)3.58233538
75regulation of voltage-gated calcium channel activity (GO:1901385)3.56967893
76cytoskeletal anchoring at plasma membrane (GO:0007016)3.55953502
77dendritic spine morphogenesis (GO:0060997)3.55078850
78neurotransmitter uptake (GO:0001504)3.53086208
79membrane depolarization (GO:0051899)3.50394175
80regulation of neurotransmitter transport (GO:0051588)3.49263278
81response to histamine (GO:0034776)3.48662751
82negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.48469951
83positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.46518676
84membrane hyperpolarization (GO:0060081)3.46081726
85positive regulation of neurotransmitter transport (GO:0051590)3.45035617
86cell differentiation in hindbrain (GO:0021533)3.42352274
87membrane depolarization during action potential (GO:0086010)3.42320482
88vesicle docking involved in exocytosis (GO:0006904)3.41090049
89activation of protein kinase A activity (GO:0034199)3.40328022
90response to auditory stimulus (GO:0010996)3.39303346
91mechanosensory behavior (GO:0007638)3.38003083
92positive regulation of neurotransmitter secretion (GO:0001956)3.35932513
93regulation of glutamate secretion (GO:0014048)3.35403955
94dendritic spine organization (GO:0097061)3.35003654
95acidic amino acid transport (GO:0015800)3.34625534
96synaptic vesicle transport (GO:0048489)3.32999273
97establishment of synaptic vesicle localization (GO:0097480)3.32999273
98positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.32773515
99adult walking behavior (GO:0007628)3.30974491
100synaptic transmission, dopaminergic (GO:0001963)3.29206853
101learning (GO:0007612)3.27828022
102neuromuscular process (GO:0050905)3.26686935
103regulation of synapse maturation (GO:0090128)3.26430910
104negative regulation of amino acid transport (GO:0051956)3.25424014
105regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.21750516
106cerebellar Purkinje cell layer development (GO:0021680)3.20205843
107glycine transport (GO:0015816)3.18878152
108positive regulation of synaptic transmission (GO:0050806)3.18593693
109regulation of exocytosis (GO:0017157)3.17447485
110behavioral fear response (GO:0001662)3.17013437
111behavioral defense response (GO:0002209)3.17013437
112cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.15769695
113positive regulation of synaptic transmission, GABAergic (GO:0032230)3.15208654
114* synaptic transmission (GO:0007268)3.14432602
115visual learning (GO:0008542)3.14214213
116chemosensory behavior (GO:0007635)3.13798900
117regulation of vesicle fusion (GO:0031338)3.13686708
118regulation of synaptic transmission (GO:0050804)3.13146935
119neuronal ion channel clustering (GO:0045161)3.12560436
120vesicle docking (GO:0048278)3.12415276
121signal release (GO:0023061)3.11920655
122positive regulation of dendrite development (GO:1900006)3.11260118
123neuromuscular synaptic transmission (GO:0007274)3.10987199
124response to pheromone (GO:0019236)3.09965645
125fear response (GO:0042596)3.09832232
126presynaptic membrane organization (GO:0097090)3.09281838
127cell communication involved in cardiac conduction (GO:0086065)3.08892870
128synaptic vesicle endocytosis (GO:0048488)3.08667373
129regulation of female receptivity (GO:0045924)3.06824064
130regulation of dendritic spine development (GO:0060998)3.04146861

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.76894120
2GBX2_23144817_ChIP-Seq_PC3_Human3.47847244
3* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.37908815
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.30737857
5RARB_27405468_Chip-Seq_BRAIN_Mouse3.28247769
6JARID2_20064375_ChIP-Seq_MESCs_Mouse3.12534321
7* REST_21632747_ChIP-Seq_MESCs_Mouse2.96567258
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.90190500
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.90190500
10DROSHA_22980978_ChIP-Seq_HELA_Human2.82689810
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.77267622
12SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.72357195
13MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.69971796
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.67605561
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.62939113
16* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.62198881
17IKZF1_21737484_ChIP-ChIP_HCT116_Human2.52570857
18SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.51338690
19* REST_18959480_ChIP-ChIP_MESCs_Mouse2.47352487
20EZH2_27304074_Chip-Seq_ESCs_Mouse2.44146922
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.33810819
22SUZ12_27294783_Chip-Seq_ESCs_Mouse2.31323048
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.24307598
24EED_16625203_ChIP-ChIP_MESCs_Mouse2.24258633
25EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.16454432
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.15353841
27ERG_21242973_ChIP-ChIP_JURKAT_Human1.97816174
28CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.97070266
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.88837640
30NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.85104591
31SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.71517431
32CTBP2_25329375_ChIP-Seq_LNCAP_Human1.70058681
33AR_21572438_ChIP-Seq_LNCaP_Human1.63656255
34SMAD4_21799915_ChIP-Seq_A2780_Human1.60931785
35TAF15_26573619_Chip-Seq_HEK293_Human1.55633057
36ZFP281_27345836_Chip-Seq_ESCs_Mouse1.47113924
37DNAJC2_21179169_ChIP-ChIP_NT2_Human1.46574364
38RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.43751810
39CTBP1_25329375_ChIP-Seq_LNCAP_Human1.43115260
40LXR_22292898_ChIP-Seq_THP-1_Human1.40702728
41* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.39130131
42* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.34991676
43* CTCF_27219007_Chip-Seq_Bcells_Human1.31441396
44SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31295148
45SOX2_21211035_ChIP-Seq_LN229_Gbm1.29611733
46ZNF274_21170338_ChIP-Seq_K562_Hela1.27699101
47GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27631399
48PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.27011610
49* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.25254329
50ZFP57_27257070_Chip-Seq_ESCs_Mouse1.24880160
51PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.24343010
52* AR_19668381_ChIP-Seq_PC3_Human1.23354128
53ESR2_21235772_ChIP-Seq_MCF-7_Human1.22597069
54RING1B_27294783_Chip-Seq_ESCs_Mouse1.21835361
55STAT3_23295773_ChIP-Seq_U87_Human1.21239218
56AR_25329375_ChIP-Seq_VCAP_Human1.21236358
57ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.21127607
58PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.20977573
59SRY_22984422_ChIP-ChIP_TESTIS_Rat1.19157280
60SMAD3_21741376_ChIP-Seq_EPCs_Human1.18843798
61P53_22127205_ChIP-Seq_FIBROBLAST_Human1.18421791
62P300_19829295_ChIP-Seq_ESCs_Human1.17161503
63SMAD_19615063_ChIP-ChIP_OVARY_Human1.15732650
64CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.15331340
65NR3C1_23031785_ChIP-Seq_PC12_Mouse1.14436646
66OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.11550000
67* KDM2B_26808549_Chip-Seq_K562_Human1.10726817
68WT1_25993318_ChIP-Seq_PODOCYTE_Human1.10425698
69* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.10334580
70RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.09186578
71OCT4_19829295_ChIP-Seq_ESCs_Human1.09037553
72TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.08451097
73GATA1_26923725_Chip-Seq_HPCs_Mouse1.07955288
74SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.07581188
75TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.07249851
76TCF4_23295773_ChIP-Seq_U87_Human1.06016423
77PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.05859012
78GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.05798095
79WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.04988355
80* SMC4_20622854_ChIP-Seq_HELA_Human1.04611474
81MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03451982
82PIAS1_25552417_ChIP-Seq_VCAP_Human1.02243856
83RING1B_27294783_Chip-Seq_NPCs_Mouse1.01869562
84TOP2B_26459242_ChIP-Seq_MCF-7_Human1.00067291
85RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.99213334
86DPY_21335234_ChIP-Seq_ESCs_Mouse0.99021154
87SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.98926362
88TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.98219000
89THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.98167165
90* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.97785661
91BMI1_23680149_ChIP-Seq_NPCS_Mouse0.97666235
92ZFP281_18757296_ChIP-ChIP_E14_Mouse0.97620875
93OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.96996249
94TET1_21490601_ChIP-Seq_MESCs_Mouse0.96091460
95RXR_22108803_ChIP-Seq_LS180_Human0.95598933
96RUNX2_22187159_ChIP-Seq_PCA_Human0.95250518
97CBX2_27304074_Chip-Seq_ESCs_Mouse0.94996143
98PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.94938128
99ZNF217_24962896_ChIP-Seq_MCF-7_Human0.94251343
100YAP1_20516196_ChIP-Seq_MESCs_Mouse0.94237614
101TP53_16413492_ChIP-PET_HCT116_Human0.94220881
102* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.92966263
103SMAD3_21741376_ChIP-Seq_HESCs_Human0.92669891
104SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.92656720
105SMAD3_21741376_ChIP-Seq_ESCs_Human0.92011503
106ARNT_22903824_ChIP-Seq_MCF-7_Human0.91907090
107SMAD4_21741376_ChIP-Seq_EPCs_Human0.91488627
108SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.90728600
109* KLF4_19829295_ChIP-Seq_ESCs_Human0.90484894
110AHR_22903824_ChIP-Seq_MCF-7_Human0.90286245
111TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89793554
112KDM2B_26808549_Chip-Seq_DND41_Human0.89092520
113CREB1_26743006_Chip-Seq_LNCaP_Human0.89001049
114EGR1_19032775_ChIP-ChIP_M12_Human0.88865510
115P68_20966046_ChIP-Seq_HELA_Human0.88158609
116DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.87130674
117SMAD4_21741376_ChIP-Seq_HESCs_Human0.87049456
118AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.84467706
119PRDM14_20953172_ChIP-Seq_ESCs_Human0.84269958
120MYC_19915707_ChIP-ChIP_AK7_Human0.83920850
121SMAD4_21741376_ChIP-Seq_ESCs_Human0.83462947
122RNF2_27304074_Chip-Seq_NSC_Mouse0.83137405
123CTNNB1_20460455_ChIP-Seq_HCT116_Human0.83047760
124POU3F2_20337985_ChIP-ChIP_501MEL_Human0.82826174
125RUNX1_26923725_Chip-Seq_HPCs_Mouse0.81435323
126UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.80817447
127VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.80733575
128TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.80422900
129POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.80422900
130NR3C1_21868756_ChIP-Seq_MCF10A_Human0.80289749
131TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.79566863
132TP53_20018659_ChIP-ChIP_R1E_Mouse0.78094527
133UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.73972559
134TP53_23651856_ChIP-Seq_MEFs_Mouse0.73871220
135GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.73812579
136KDM2B_26808549_Chip-Seq_JURKAT_Human0.73425555
137TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.73155854
138EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.71040820
139TET1_21451524_ChIP-Seq_MESCs_Mouse0.70392304
140NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.70149679
141TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.69198445
142CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.68519192

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.65865128
2MP0002822_catalepsy4.56335668
3* MP0003635_abnormal_synaptic_transmissio4.46110469
4MP0003880_abnormal_central_pattern4.44901718
5MP0009046_muscle_twitch4.31003487
6* MP0009745_abnormal_behavioral_response3.80529747
7* MP0002064_seizures3.45975266
8* MP0002063_abnormal_learning/memory/cond3.45830644
9MP0004270_analgesia3.44640596
10* MP0002272_abnormal_nervous_system2.96625797
11* MP0002572_abnormal_emotion/affect_behav2.94868040
12MP0001968_abnormal_touch/_nociception2.90618861
13MP0001486_abnormal_startle_reflex2.77140206
14MP0008569_lethality_at_weaning2.58655514
15MP0002734_abnormal_mechanical_nocicepti2.56305129
16MP0001501_abnormal_sleep_pattern2.49738135
17MP0005423_abnormal_somatic_nervous2.39510045
18MP0001440_abnormal_grooming_behavior2.25733930
19MP0002736_abnormal_nociception_after2.23031618
20MP0002067_abnormal_sensory_capabilities2.19017302
21MP0004924_abnormal_behavior1.92228645
22MP0005386_behavior/neurological_phenoty1.92228645
23MP0003879_abnormal_hair_cell1.90647086
24MP0001970_abnormal_pain_threshold1.89575603
25MP0002733_abnormal_thermal_nociception1.89333407
26MP0002735_abnormal_chemical_nociception1.86338829
27MP0003329_amyloid_beta_deposits1.85438084
28MP0002184_abnormal_innervation1.81457125
29MP0002909_abnormal_adrenal_gland1.76902658
30* MP0002557_abnormal_social/conspecific_i1.69199792
31MP0001984_abnormal_olfaction1.63638082
32MP0004811_abnormal_neuron_physiology1.62288823
33MP0003123_paternal_imprinting1.59915321
34MP0001529_abnormal_vocalization1.58943504
35MP0005646_abnormal_pituitary_gland1.56663363
36MP0002066_abnormal_motor_capabilities/c1.52258304
37MP0009780_abnormal_chondrocyte_physiolo1.51353863
38MP0004145_abnormal_muscle_electrophysio1.49912047
39MP0004885_abnormal_endolymph1.42854419
40MP0003633_abnormal_nervous_system1.42355473
41MP0004142_abnormal_muscle_tone1.40431800
42MP0000955_abnormal_spinal_cord1.40388237
43MP0008872_abnormal_physiological_respon1.31624353
44MP0002882_abnormal_neuron_morphology1.28105237
45MP0001188_hyperpigmentation1.27538115
46MP0003631_nervous_system_phenotype1.25738873
47MP0000778_abnormal_nervous_system1.25400836
48MP0000013_abnormal_adipose_tissue1.22731332
49MP0004858_abnormal_nervous_system1.22487614
50MP0001502_abnormal_circadian_rhythm1.20691719
51MP0001348_abnormal_lacrimal_gland1.18886750
52MP0008874_decreased_physiological_sensi1.08273366
53MP0004742_abnormal_vestibular_system1.06653164
54MP0003787_abnormal_imprinting1.05267732
55MP0003632_abnormal_nervous_system1.05196327
56MP0002152_abnormal_brain_morphology1.03519593
57MP0001905_abnormal_dopamine_level1.02988142
58MP0002069_abnormal_eating/drinking_beha0.94886487
59MP0002229_neurodegeneration0.94466138
60MP0001177_atelectasis0.94403624
61MP0001346_abnormal_lacrimal_gland0.94053988
62MP0003690_abnormal_glial_cell0.91863040
63MP0004085_abnormal_heartbeat0.91128033
64MP0000751_myopathy0.89416253
65MP0000920_abnormal_myelination0.88737644
66MP0003075_altered_response_to0.87556409
67MP0003283_abnormal_digestive_organ0.87292038
68MP0000604_amyloidosis0.85690430
69MP0004215_abnormal_myocardial_fiber0.84741912
70MP0005535_abnormal_body_temperature0.81952200
71MP0006276_abnormal_autonomic_nervous0.78797444
72MP0005623_abnormal_meninges_morphology0.78199806
73MP0005167_abnormal_blood-brain_barrier0.77747020
74MP0001485_abnormal_pinna_reflex0.76608614
75MP0005551_abnormal_eye_electrophysiolog0.76232293
76MP0003137_abnormal_impulse_conducting0.76013654
77MP0004043_abnormal_pH_regulation0.75909583
78MP0001963_abnormal_hearing_physiology0.75476601
79MP0008877_abnormal_DNA_methylation0.73991827
80MP0004484_altered_response_of0.73285792
81MP0004147_increased_porphyrin_level0.71919082
82MP0005409_darkened_coat_color0.70728118
83MP0008961_abnormal_basal_metabolism0.69995538
84MP0005645_abnormal_hypothalamus_physiol0.68169416
85MP0002090_abnormal_vision0.65240470
86MP0005499_abnormal_olfactory_system0.64820787
87MP0005394_taste/olfaction_phenotype0.64820787
88MP0001986_abnormal_taste_sensitivity0.64809213
89MP0002638_abnormal_pupillary_reflex0.63796138
90MP0003634_abnormal_glial_cell0.63358780
91MP0000579_abnormal_nail_morphology0.60310956
92MP0002837_dystrophic_cardiac_calcinosis0.59757090
93MP0004510_myositis0.58525570
94MP0002876_abnormal_thyroid_physiology0.58339601
95MP0003172_abnormal_lysosome_physiology0.58130179
96MP0004233_abnormal_muscle_weight0.58003872
97MP0002752_abnormal_somatic_nervous0.57027831
98MP0004130_abnormal_muscle_cell0.56386108
99MP0000569_abnormal_digit_pigmentation0.55152814
100MP0010234_abnormal_vibrissa_follicle0.54710323
101MP0005166_decreased_susceptibility_to0.54634195
102MP0003122_maternal_imprinting0.54449063
103* MP0010769_abnormal_survival0.53509838
104MP0003646_muscle_fatigue0.53483899
105MP0010386_abnormal_urinary_bladder0.53206237
106MP0003956_abnormal_body_size0.52022565
107* MP0010768_mortality/aging0.50674475
108* MP0010770_preweaning_lethality0.50020529
109* MP0002082_postnatal_lethality0.50020529
110MP0001943_abnormal_respiration0.49049646
111MP0003045_fibrosis0.48963491
112MP0002089_abnormal_postnatal_growth/wei0.47368555
113MP0002249_abnormal_larynx_morphology0.47252643
114MP0002873_normal_phenotype0.46537459
115MP0001765_abnormal_ion_homeostasis0.45253501
116MP0002169_no_abnormal_phenotype0.44924890
117MP0000639_abnormal_adrenal_gland0.43628149

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)9.11739050
2Myokymia (HP:0002411)7.37178624
3Focal seizures (HP:0007359)6.54373316
4Atonic seizures (HP:0010819)5.81680592
5Visual hallucinations (HP:0002367)5.56682046
6Febrile seizures (HP:0002373)5.37660162
7Action tremor (HP:0002345)5.33094801
8Epileptic encephalopathy (HP:0200134)5.32717399
9Progressive cerebellar ataxia (HP:0002073)5.17571777
10Gaze-evoked nystagmus (HP:0000640)4.95108454
11Absence seizures (HP:0002121)4.78338948
12Dysdiadochokinesis (HP:0002075)4.38065034
13Dialeptic seizures (HP:0011146)4.36805152
14Dysmetric saccades (HP:0000641)4.31377394
15Broad-based gait (HP:0002136)4.31068204
16Generalized tonic-clonic seizures (HP:0002069)4.08795109
17Poor eye contact (HP:0000817)4.08372833
18Cerebral hypomyelination (HP:0006808)4.06611397
19Scanning speech (HP:0002168)4.06081943
20Impaired smooth pursuit (HP:0007772)3.76505905
21Abnormal social behavior (HP:0012433)3.74090884
22Impaired social interactions (HP:0000735)3.74090884
23Dysmetria (HP:0001310)3.62006703
24Truncal ataxia (HP:0002078)3.51727544
25Depression (HP:0000716)3.37606373
26Hemiplegia (HP:0002301)3.36858880
27Hyperventilation (HP:0002883)3.36534189
28Anxiety (HP:0000739)3.33685443
29Abnormality of ocular smooth pursuit (HP:0000617)3.33597992
30Status epilepticus (HP:0002133)3.30553092
31Intention tremor (HP:0002080)3.26389302
32Impaired vibration sensation in the lower limbs (HP:0002166)3.19836827
33Genetic anticipation (HP:0003743)3.15941847
34Abnormality of the lower motor neuron (HP:0002366)3.12693199
35Hemiparesis (HP:0001269)3.05169389
36Diplopia (HP:0000651)3.04339508
37Abnormality of binocular vision (HP:0011514)3.04339508
38Ankle clonus (HP:0011448)2.97338441
39Akinesia (HP:0002304)2.83203340
40Urinary bladder sphincter dysfunction (HP:0002839)2.83167537
41Ventricular fibrillation (HP:0001663)2.81019571
42Postural instability (HP:0002172)2.80876793
43Tetraplegia (HP:0002445)2.79356904
44Torticollis (HP:0000473)2.77497101
45Apathy (HP:0000741)2.66902096
46Amblyopia (HP:0000646)2.66763520
47Resting tremor (HP:0002322)2.65770976
48Sleep apnea (HP:0010535)2.64928143
49Focal dystonia (HP:0004373)2.62790053
50Progressive inability to walk (HP:0002505)2.60534936
51Mutism (HP:0002300)2.60110442
52Insomnia (HP:0100785)2.60054884
53Supranuclear gaze palsy (HP:0000605)2.59880689
54Choreoathetosis (HP:0001266)2.54191136
55* Stereotypic behavior (HP:0000733)2.51366218
56Abnormality of saccadic eye movements (HP:0000570)2.49611820
57Peripheral hypomyelination (HP:0007182)2.48540817
58Fetal akinesia sequence (HP:0001989)2.46172169
59Spastic gait (HP:0002064)2.44918725
60Epileptiform EEG discharges (HP:0011182)2.43703409
61Bradykinesia (HP:0002067)2.43559048
62Impaired vibratory sensation (HP:0002495)2.42576220
63Bundle branch block (HP:0011710)2.42483782
64CNS hypomyelination (HP:0003429)2.42218767
65Diminished motivation (HP:0000745)2.41582786
66Urinary urgency (HP:0000012)2.39892689
67Craniofacial dystonia (HP:0012179)2.31695421
68Drooling (HP:0002307)2.28890216
69Excessive salivation (HP:0003781)2.28890216
70Gait ataxia (HP:0002066)2.28140715
71* Abnormal eating behavior (HP:0100738)2.25984903
72EEG with generalized epileptiform discharges (HP:0011198)2.25572145
73Limb ataxia (HP:0002070)2.25389839
74Rapidly progressive (HP:0003678)2.24483013
75Incomplete penetrance (HP:0003829)2.21260049
76Postural tremor (HP:0002174)2.17488861
77Neuronal loss in central nervous system (HP:0002529)2.16960096
78Hypsarrhythmia (HP:0002521)2.16430958
79Morphological abnormality of the pyramidal tract (HP:0002062)2.13561626
80Inability to walk (HP:0002540)2.11129781
81Clonus (HP:0002169)2.07599846
82Horizontal nystagmus (HP:0000666)2.06565633
83Generalized myoclonic seizures (HP:0002123)2.04996298
84Degeneration of the lateral corticospinal tracts (HP:0002314)2.04731337
85Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.04731337
86Heart block (HP:0012722)2.04078495
87Abnormality of the corticospinal tract (HP:0002492)1.98731309
88Absent speech (HP:0001344)1.96391038
89Pheochromocytoma (HP:0002666)1.95676965
90* Annular pancreas (HP:0001734)1.94885885
91Lower limb amyotrophy (HP:0007210)1.94818307
92Amyotrophic lateral sclerosis (HP:0007354)1.93852699
93Memory impairment (HP:0002354)1.92994825
94Unsteady gait (HP:0002317)1.92957052
95Papilledema (HP:0001085)1.92402770
96* Pointed chin (HP:0000307)1.90136154
97Abnormal atrioventricular conduction (HP:0005150)1.87053802
98Aplasia involving bones of the upper limbs (HP:0009823)1.86946374
99Aplasia of the phalanges of the hand (HP:0009802)1.86946374
100Aplasia involving bones of the extremities (HP:0009825)1.86946374
101Abnormal EKG (HP:0003115)1.86924266
102Megalencephaly (HP:0001355)1.85260682
103Psychosis (HP:0000709)1.85155589
104Abnormality of the periventricular white matter (HP:0002518)1.82086014
105Increased circulating renin level (HP:0000848)1.81507562
106Dementia (HP:0000726)1.78786479
107Hand muscle atrophy (HP:0009130)1.77283020
108Rigidity (HP:0002063)1.75933405
109Slow saccadic eye movements (HP:0000514)1.75825720
110Neurofibrillary tangles (HP:0002185)1.75430664
111Spastic tetraparesis (HP:0001285)1.73162339
112Slow progression (HP:0003677)1.72686927
113Delusions (HP:0000746)1.72481731
114Lower limb muscle weakness (HP:0007340)1.68093291
115Ankyloglossia (HP:0010296)1.67860207
116Cerebral inclusion bodies (HP:0100314)1.67753567
117Obstructive sleep apnea (HP:0002870)1.67677156
118Prolonged QT interval (HP:0001657)1.65873260
119Limb dystonia (HP:0002451)1.64453631
120Neuroendocrine neoplasm (HP:0100634)1.63102505
121Polyphagia (HP:0002591)1.61642511
122Agitation (HP:0000713)1.60749588
123Blue irides (HP:0000635)1.59206818
124Specific learning disability (HP:0001328)1.59086667
125Cortical visual impairment (HP:0100704)1.58918591

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.15387997
2NTRK34.30194415
3MAP3K93.70679405
4DAPK23.09337360
5CAMKK22.72122255
6MAP3K42.69746514
7RIPK42.52045498
8CAMKK12.40783646
9MINK12.38626822
10MAP2K72.25691479
11KSR22.20263969
12CDK192.09397290
13CASK2.05500568
14PAK61.94161975
15NTRK21.88591941
16KSR11.86482532
17DAPK11.81910627
18PRPF4B1.75170961
19ARAF1.74150235
20MAP2K41.74137878
21MARK11.68306528
22LATS21.63649586
23PRKD31.56299640
24CDK51.50809271
25TNIK1.48905246
26STK381.48815474
27MAP3K131.46523800
28MAP3K121.42903874
29NTRK11.39316739
30PLK21.36739187
31PRKCG1.31448263
32SIK21.26631698
33FES1.20360294
34GRK51.18455290
35PNCK1.15800435
36TYRO31.13677800
37PINK11.12419453
38OXSR11.12189327
39SGK2231.12112048
40SGK4941.12112048
41RIPK11.11309901
42SGK21.09385828
43TAOK11.08625485
44MAP3K21.06439613
45CCNB11.05875795
46SIK31.05519941
47CDK181.02318210
48WNK11.00408558
49CDK150.97132582
50BMPR20.96692444
51CAMK10.96318867
52STK110.95645282
53PRKCH0.94619824
54RAF10.94101626
55SGK30.92625914
56CAMK2A0.89728300
57CAMK2B0.89083202
58CDK140.87108725
59AKT30.85202486
60CDK11A0.84620229
61MAPK130.78338793
62PDK10.78079379
63SGK10.76795172
64PDPK10.76580440
65UHMK10.75934090
66ALK0.75139688
67NEK10.75134320
68PKN10.72193595
69MAP3K110.69996184
70PTK2B0.67251095
71LIMK10.65803883
72CAMK40.62553541
73NEK60.61981138
74CAMK2G0.60955052
75RET0.57577666
76DYRK1A0.57110870
77MAP3K10.54829267
78LMTK20.54781013
79BRAF0.54659127
80BRSK10.54268416
81DAPK30.54185154
82RPS6KA30.54182930
83TNK20.53525569
84MARK20.52920610
85FGFR20.51376615
86TESK10.49501136
87BCR0.49453539
88PRKCE0.48029021
89ROCK20.47499669
90CAMK2D0.47055280
91PDK30.46253891
92PDK40.46253891
93FYN0.43480536
94MAP2K10.42389960
95PRKCZ0.38462238
96CDC42BPA0.37924752
97PRKG20.37518734
98PHKG20.37443257
99PHKG10.37443257
100MAPK100.37441748
101PRKACA0.34747366
102IRAK20.34534132
103MAPK120.34122110
104PRKCB0.33657493
105CSNK1A10.33498637
106MAPK70.32905326
107PRKCA0.32139540
108MOS0.28978588
109MAP2K60.28003111
110ERBB20.27900155
111CSNK1G20.27552347
112PAK30.26418609
113MAPK80.25430437
114ROCK10.25075280
115SRC0.24555298
116MAPKAPK50.23930579
117JAK20.22029859

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050333.97978001
2Synaptic vesicle cycle_Homo sapiens_hsa047213.42050830
3Long-term potentiation_Homo sapiens_hsa047203.00227471
4Circadian entrainment_Homo sapiens_hsa047132.85160134
5Glutamatergic synapse_Homo sapiens_hsa047242.83684627
6* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.82669911
7Olfactory transduction_Homo sapiens_hsa047402.82151950
8* GABAergic synapse_Homo sapiens_hsa047272.81663309
9* Morphine addiction_Homo sapiens_hsa050322.69581249
10Amphetamine addiction_Homo sapiens_hsa050312.67060284
11Salivary secretion_Homo sapiens_hsa049702.32467020
12Dopaminergic synapse_Homo sapiens_hsa047282.19569138
13Long-term depression_Homo sapiens_hsa047302.06332232
14Taste transduction_Homo sapiens_hsa047422.03154264
15Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.00959674
16Insulin secretion_Homo sapiens_hsa049111.85987357
17Cholinergic synapse_Homo sapiens_hsa047251.85550174
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.85259831
19Gastric acid secretion_Homo sapiens_hsa049711.84817552
20Cocaine addiction_Homo sapiens_hsa050301.77810849
21Oxytocin signaling pathway_Homo sapiens_hsa049211.71861355
22Calcium signaling pathway_Homo sapiens_hsa040201.71103219
23Renin secretion_Homo sapiens_hsa049241.69044437
24Collecting duct acid secretion_Homo sapiens_hsa049661.69026123
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.64895485
26Serotonergic synapse_Homo sapiens_hsa047261.57416825
27Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.49136428
28Gap junction_Homo sapiens_hsa045401.36864211
29GnRH signaling pathway_Homo sapiens_hsa049121.35845673
30cAMP signaling pathway_Homo sapiens_hsa040241.33818462
31Phosphatidylinositol signaling system_Homo sapiens_hsa040701.33103554
32Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.33066077
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.24954896
34Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.14129247
35Type II diabetes mellitus_Homo sapiens_hsa049301.13068650
36Estrogen signaling pathway_Homo sapiens_hsa049151.11601585
37cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06666643
38Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.04981256
39Pancreatic secretion_Homo sapiens_hsa049720.99250545
40Cardiac muscle contraction_Homo sapiens_hsa042600.98899407
41Nitrogen metabolism_Homo sapiens_hsa009100.96471375
42* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.96249717
43Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.94154227
44Oocyte meiosis_Homo sapiens_hsa041140.91855668
45Vascular smooth muscle contraction_Homo sapiens_hsa042700.90849721
46Glioma_Homo sapiens_hsa052140.88461010
47Vibrio cholerae infection_Homo sapiens_hsa051100.87653173
48Melanogenesis_Homo sapiens_hsa049160.84042668
49Thyroid hormone synthesis_Homo sapiens_hsa049180.82126084
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.81441319
51Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.79394690
52ErbB signaling pathway_Homo sapiens_hsa040120.79059754
53Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.78463898
54Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.77893025
55Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.75936294
56Axon guidance_Homo sapiens_hsa043600.72683013
57Inositol phosphate metabolism_Homo sapiens_hsa005620.67485851
58Phototransduction_Homo sapiens_hsa047440.66990321
59Dorso-ventral axis formation_Homo sapiens_hsa043200.66819681
60Dilated cardiomyopathy_Homo sapiens_hsa054140.66661701
61Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.66654406
62Circadian rhythm_Homo sapiens_hsa047100.65433682
63MAPK signaling pathway_Homo sapiens_hsa040100.63577062
64SNARE interactions in vesicular transport_Homo sapiens_hsa041300.63051328
65Type I diabetes mellitus_Homo sapiens_hsa049400.61810931
66Choline metabolism in cancer_Homo sapiens_hsa052310.60245065
67Carbohydrate digestion and absorption_Homo sapiens_hsa049730.56212079
68Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.55324251
69Bile secretion_Homo sapiens_hsa049760.53775268
70Arginine and proline metabolism_Homo sapiens_hsa003300.52780100
71Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.51817375
72Glucagon signaling pathway_Homo sapiens_hsa049220.50869518
73Alcoholism_Homo sapiens_hsa050340.50121140
74Thyroid hormone signaling pathway_Homo sapiens_hsa049190.49395759
75VEGF signaling pathway_Homo sapiens_hsa043700.49357228
76Rap1 signaling pathway_Homo sapiens_hsa040150.48360119
77Neurotrophin signaling pathway_Homo sapiens_hsa047220.46895581
78Longevity regulating pathway - mammal_Homo sapiens_hsa042110.46199999
79mTOR signaling pathway_Homo sapiens_hsa041500.44735834
80Non-small cell lung cancer_Homo sapiens_hsa052230.42378119
81Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.41160348
82Alzheimers disease_Homo sapiens_hsa050100.39343597
83Sphingolipid signaling pathway_Homo sapiens_hsa040710.38596248
84Ras signaling pathway_Homo sapiens_hsa040140.38041910
85Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.37740313
86Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.37731090
87Mineral absorption_Homo sapiens_hsa049780.37472654
88Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.37091783
89Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.35530991
90Endocytosis_Homo sapiens_hsa041440.35415631
91Glycerophospholipid metabolism_Homo sapiens_hsa005640.34970403
92Fatty acid biosynthesis_Homo sapiens_hsa000610.33923359
93Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.32858594
94Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.32434752
95Chemokine signaling pathway_Homo sapiens_hsa040620.32030804
96Vitamin B6 metabolism_Homo sapiens_hsa007500.30362737
97Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.30307143
98African trypanosomiasis_Homo sapiens_hsa051430.30233781
99HIF-1 signaling pathway_Homo sapiens_hsa040660.28317338
100Wnt signaling pathway_Homo sapiens_hsa043100.27614243
101Butanoate metabolism_Homo sapiens_hsa006500.27483541
102Prion diseases_Homo sapiens_hsa050200.26337639
103Renal cell carcinoma_Homo sapiens_hsa052110.25975517
104Histidine metabolism_Homo sapiens_hsa003400.25149955
105AMPK signaling pathway_Homo sapiens_hsa041520.24671716
106Arginine biosynthesis_Homo sapiens_hsa002200.24082397
107Ovarian steroidogenesis_Homo sapiens_hsa049130.23570388
108Rheumatoid arthritis_Homo sapiens_hsa053230.23165917
109Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.22777598
110Insulin signaling pathway_Homo sapiens_hsa049100.21802133
1112-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.19647616
112Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.19194098
113Tight junction_Homo sapiens_hsa045300.17282065
114Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.15799802
115beta-Alanine metabolism_Homo sapiens_hsa004100.14790462

Most similar genes based on co-expression Upload to Enrichr

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