ADORA1

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





Description: The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.40557567
2synaptic vesicle maturation (GO:0016188)5.34282740
3locomotory exploration behavior (GO:0035641)5.31214559
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.20775915
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.03019043
6vocalization behavior (GO:0071625)4.86563612
7synaptic vesicle exocytosis (GO:0016079)4.85595131
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.81801364
9glutamate secretion (GO:0014047)4.80269438
10neuronal action potential propagation (GO:0019227)4.64054012
11synaptic vesicle docking involved in exocytosis (GO:0016081)4.50185224
12regulation of synaptic vesicle exocytosis (GO:2000300)4.48687469
13amino acid import (GO:0043090)4.47293992
14ionotropic glutamate receptor signaling pathway (GO:0035235)4.45464517
15regulation of glutamate receptor signaling pathway (GO:1900449)4.36627313
16protein localization to synapse (GO:0035418)4.25406883
17regulation of neuronal synaptic plasticity (GO:0048168)4.20866677
18cellular potassium ion homeostasis (GO:0030007)4.08844842
19exploration behavior (GO:0035640)4.08303281
20regulation of long-term neuronal synaptic plasticity (GO:0048169)4.07441472
21glutamate receptor signaling pathway (GO:0007215)4.02655535
22regulation of synaptic vesicle transport (GO:1902803)4.02381216
23synaptic transmission, glutamatergic (GO:0035249)4.01783792
24neurotransmitter secretion (GO:0007269)4.01197094
25neuron cell-cell adhesion (GO:0007158)4.00441786
26gamma-aminobutyric acid transport (GO:0015812)3.96117635
27regulation of synapse structural plasticity (GO:0051823)3.86268240
28layer formation in cerebral cortex (GO:0021819)3.82094359
29neurotransmitter-gated ion channel clustering (GO:0072578)3.81303002
30neuron-neuron synaptic transmission (GO:0007270)3.77775025
31sodium ion export (GO:0071436)3.76515310
32membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.76502055
33dendritic spine morphogenesis (GO:0060997)3.69895058
34long-term memory (GO:0007616)3.61894064
35cytoskeletal anchoring at plasma membrane (GO:0007016)3.60260930
36proline transport (GO:0015824)3.57079690
37regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.49927216
38* regulation of excitatory postsynaptic membrane potential (GO:0060079)3.48501018
39regulation of synapse maturation (GO:0090128)3.46298451
40positive regulation of membrane potential (GO:0045838)3.45868019
41glycine transport (GO:0015816)3.41356840
42regulation of ARF protein signal transduction (GO:0032012)3.39038370
43positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.38202309
44regulation of dendritic spine morphogenesis (GO:0061001)3.37671937
45neurotransmitter transport (GO:0006836)3.37023740
46* regulation of synaptic plasticity (GO:0048167)3.36956803
47negative regulation of dendrite morphogenesis (GO:0050774)3.35275663
48cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.34036071
49L-amino acid import (GO:0043092)3.33051558
50cerebellar granule cell differentiation (GO:0021707)3.32339128
51G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.31429589
52* regulation of postsynaptic membrane potential (GO:0060078)3.29887401
53neuromuscular process controlling balance (GO:0050885)3.26947690
54gamma-aminobutyric acid signaling pathway (GO:0007214)3.25991103
55transmission of nerve impulse (GO:0019226)3.25409946
56positive regulation of synapse maturation (GO:0090129)3.24437741
57long-term synaptic potentiation (GO:0060291)3.24146310
58neuron recognition (GO:0008038)3.23984599
59activation of protein kinase A activity (GO:0034199)3.23269214
60positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.17508015
61positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.14006879
62regulation of neurotransmitter levels (GO:0001505)3.13662010
63regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.13610225
64G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.13465639
65regulation of neurotransmitter secretion (GO:0046928)3.13131636
66neuromuscular process controlling posture (GO:0050884)3.12567719
67synaptic vesicle endocytosis (GO:0048488)3.11679457
68acidic amino acid transport (GO:0015800)3.11186729
69cell communication by electrical coupling (GO:0010644)3.10661640
70cerebellar Purkinje cell differentiation (GO:0021702)3.09966219
71cerebellar Purkinje cell layer development (GO:0021680)3.08818418
72cell communication involved in cardiac conduction (GO:0086065)3.07823076
73auditory behavior (GO:0031223)3.06339603
74presynaptic membrane organization (GO:0097090)3.04421516
75presynaptic membrane assembly (GO:0097105)3.03453461
76dendrite morphogenesis (GO:0048813)3.02722117
77regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.99326672
78neurotransmitter uptake (GO:0001504)2.98224361
79potassium ion import (GO:0010107)2.97792928
80membrane hyperpolarization (GO:0060081)2.97127047
81membrane depolarization during action potential (GO:0086010)2.96098046
82detection of calcium ion (GO:0005513)2.95907577
83* regulation of synaptic transmission, glutamatergic (GO:0051966)2.94939293
84axonal fasciculation (GO:0007413)2.94686276
85regulation of vesicle fusion (GO:0031338)2.93631830
86* membrane depolarization (GO:0051899)2.93412400
87regulation of neurotransmitter transport (GO:0051588)2.92100009
88postsynaptic membrane organization (GO:0001941)2.91857789
89positive regulation of neurotransmitter secretion (GO:0001956)2.91364000
90positive regulation of dendrite development (GO:1900006)2.91041310
91potassium ion homeostasis (GO:0055075)2.90209793
92regulation of dendritic spine development (GO:0060998)2.89429524
93adult walking behavior (GO:0007628)2.88922491
94innervation (GO:0060384)2.88910829
95regulation of voltage-gated calcium channel activity (GO:1901385)2.88645923
96negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.87846902
97dendritic spine organization (GO:0097061)2.87409802
98positive regulation of dendritic spine morphogenesis (GO:0061003)2.87241280
99cellular sodium ion homeostasis (GO:0006883)2.87231643
100response to auditory stimulus (GO:0010996)2.86534903
101neuromuscular synaptic transmission (GO:0007274)2.86464537
102mating behavior (GO:0007617)2.85447073
103long term synaptic depression (GO:0060292)2.84593547
104axon ensheathment in central nervous system (GO:0032291)2.83037783
105central nervous system myelination (GO:0022010)2.83037783
106positive regulation of dendritic spine development (GO:0060999)2.81658328
107* regulation of synaptic transmission (GO:0050804)2.81651244
108regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.80321901
109positive regulation of neurotransmitter transport (GO:0051590)2.80084429
110learning (GO:0007612)2.79976216
111cell migration in hindbrain (GO:0021535)2.79512833
112response to gravity (GO:0009629)2.79363040
113behavioral response to cocaine (GO:0048148)2.78699556
114neuromuscular process (GO:0050905)2.78423179
115positive regulation of synaptic transmission (GO:0050806)2.78115314
116neuronal ion channel clustering (GO:0045161)2.77483253
117L-glutamate transport (GO:0015813)2.76077232
118behavioral defense response (GO:0002209)2.76004411
119behavioral fear response (GO:0001662)2.76004411
120astrocyte development (GO:0014002)2.74987773
121myelin maintenance (GO:0043217)2.71190254
122vesicle docking involved in exocytosis (GO:0006904)2.69954602
123regulation of dendrite morphogenesis (GO:0048814)2.69061537

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.24241292
2GBX2_23144817_ChIP-Seq_PC3_Human3.26006551
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.05137425
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.02348131
5* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.91721901
6* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.72930451
7* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.72930451
8* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.55597202
9* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.54081170
10* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.53984385
11* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.49359906
12REST_21632747_ChIP-Seq_MESCs_Mouse2.49347158
13* RARB_27405468_Chip-Seq_BRAIN_Mouse2.45157123
14* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.44240537
15* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.44068981
16DROSHA_22980978_ChIP-Seq_HELA_Human2.42842115
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.34684161
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.20659113
19* EZH2_27294783_Chip-Seq_ESCs_Mouse2.20252657
20* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.18529499
21* RNF2_27304074_Chip-Seq_ESCs_Mouse2.11880171
22IKZF1_21737484_ChIP-ChIP_HCT116_Human2.07691970
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.05210062
24AR_21572438_ChIP-Seq_LNCaP_Human1.87506804
25* MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.83961584
26TRIM28_21343339_ChIP-Seq_HEK293_Human1.82950444
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.78133624
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.76075751
29* ESR2_21235772_ChIP-Seq_MCF-7_Human1.74987304
30* LXR_22292898_ChIP-Seq_THP-1_Human1.74074200
31EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.72659656
32ERG_21242973_ChIP-ChIP_JURKAT_Human1.67495241
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.62377510
34PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.61273025
35RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.60992950
36CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.59799329
37* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.58651199
38KDM2B_26808549_Chip-Seq_SUP-B15_Human1.56994685
39CTBP2_25329375_ChIP-Seq_LNCAP_Human1.56759714
40TAF15_26573619_Chip-Seq_HEK293_Human1.52927284
41CTBP1_25329375_ChIP-Seq_LNCAP_Human1.50004682
42SMAD4_21799915_ChIP-Seq_A2780_Human1.49199701
43ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.47633420
44SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.47520526
45SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.47242638
46RARG_19884340_ChIP-ChIP_MEFs_Mouse1.42398674
47SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.41830959
48OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.35265707
49SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.30563187
50NR3C1_23031785_ChIP-Seq_PC12_Mouse1.27134951
51PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.27098382
52* RING1B_27294783_Chip-Seq_ESCs_Mouse1.25804572
53PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.25803205
54EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.24648613
55TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.24229109
56RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.24062661
57* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23761426
58SOX2_21211035_ChIP-Seq_LN229_Gbm1.23178195
59ZNF274_21170338_ChIP-Seq_K562_Hela1.21306805
60CDX2_19796622_ChIP-Seq_MESCs_Mouse1.21294252
61DNAJC2_21179169_ChIP-ChIP_NT2_Human1.20795172
62ZFP57_27257070_Chip-Seq_ESCs_Mouse1.20142552
63* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.19843067
64CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.18681113
65P300_19829295_ChIP-Seq_ESCs_Human1.18137777
66SMAD3_21741376_ChIP-Seq_EPCs_Human1.18124696
67UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.17663145
68STAT3_23295773_ChIP-Seq_U87_Human1.17513430
69TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.16815038
70RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.16137612
71OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.15241441
72PIAS1_25552417_ChIP-Seq_VCAP_Human1.14399171
73* AR_19668381_ChIP-Seq_PC3_Human1.13414610
74AR_25329375_ChIP-Seq_VCAP_Human1.13412702
75PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.13025652
76SMC4_20622854_ChIP-Seq_HELA_Human1.12372111
77TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.12212418
78* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.10120466
79KDM2B_26808549_Chip-Seq_K562_Human1.09247110
80ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08917002
81CBX2_27304074_Chip-Seq_ESCs_Mouse1.08895596
82KDM2B_26808549_Chip-Seq_DND41_Human1.08340532
83TP53_20018659_ChIP-ChIP_R1E_Mouse1.07170324
84TOP2B_26459242_ChIP-Seq_MCF-7_Human1.06724021
85ARNT_22903824_ChIP-Seq_MCF-7_Human1.06568668
86* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.05613004
87SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.05359365
88* RING1B_27294783_Chip-Seq_NPCs_Mouse1.04667688
89TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02560017
90TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.02282600
91DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.01796140
92AHR_22903824_ChIP-Seq_MCF-7_Human1.01770300
93TCF4_23295773_ChIP-Seq_U87_Human1.01069973
94* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.99423763
95TP53_23651856_ChIP-Seq_MEFs_Mouse0.98700280
96PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.98193412
97MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98146947
98SRY_22984422_ChIP-ChIP_TESTIS_Rat0.97085281
99P53_22127205_ChIP-Seq_FIBROBLAST_Human0.96855039
100AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.96774600
101CREB1_26743006_Chip-Seq_LNCaP_Human0.94768438
102VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.94023274
103* SMAD4_21741376_ChIP-Seq_HESCs_Human0.93016285
104CTNNB1_20460455_ChIP-Seq_HCT116_Human0.92683313
105ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.92561750
106GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91864829
107GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91318434
108OCT4_19829295_ChIP-Seq_ESCs_Human0.90816364
109YAP1_20516196_ChIP-Seq_MESCs_Mouse0.90759357
110SMAD3_21741376_ChIP-Seq_HESCs_Human0.90658592
111NR3C1_21868756_ChIP-Seq_MCF10A_Human0.90504346
112ZFP281_18757296_ChIP-ChIP_E14_Mouse0.90109636
113SMAD3_21741376_ChIP-Seq_ESCs_Human0.89982664
114* RACK7_27058665_Chip-Seq_MCF-7_Human0.89278872
115GATA1_26923725_Chip-Seq_HPCs_Mouse0.89109738
116PRDM14_20953172_ChIP-Seq_ESCs_Human0.88869326
117SMAD_19615063_ChIP-ChIP_OVARY_Human0.88593640
118TP53_16413492_ChIP-PET_HCT116_Human0.88555582
119CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.88029943
120RUNX2_22187159_ChIP-Seq_PCA_Human0.87956377
121UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.87381613
122TET1_21490601_ChIP-Seq_MESCs_Mouse0.86759952
123BMI1_23680149_ChIP-Seq_NPCS_Mouse0.86623617
124SMAD4_21741376_ChIP-Seq_EPCs_Human0.86569462
125TET1_21451524_ChIP-Seq_MESCs_Mouse0.86175719
126KDM2B_26808549_Chip-Seq_JURKAT_Human0.85470550
127BCAT_22108803_ChIP-Seq_LS180_Human0.85141716
128RXR_22108803_ChIP-Seq_LS180_Human0.84877010
129* P300_27058665_Chip-Seq_ZR-75-30cells_Human0.84628858
130TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84201070
131KLF4_19829295_ChIP-Seq_ESCs_Human0.83864025
132SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.83416590
133EP300_21415370_ChIP-Seq_HL-1_Mouse0.83367718
134P68_20966046_ChIP-Seq_HELA_Human0.83252468
135THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.83015636
136* CTCF_27219007_Chip-Seq_Bcells_Human0.82538930
137BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.81456592
138NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.81321787
139* DPY_21335234_ChIP-Seq_ESCs_Mouse0.79359903
140MYC_19915707_ChIP-ChIP_AK7_Human0.78732435
141RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.75838304
142GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.75821684
143CLOCK_20551151_ChIP-Seq_293T_Human0.75733254
144SA1_27219007_Chip-Seq_ERYTHROID_Human0.75548832
145* ESR1_21235772_ChIP-Seq_MCF-7_Human0.75133040

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.35975771
2MP0003880_abnormal_central_pattern4.63563632
3* MP0003635_abnormal_synaptic_transmissio3.99653346
4MP0004270_analgesia3.84979590
5MP0009745_abnormal_behavioral_response3.31708387
6MP0002063_abnormal_learning/memory/cond3.18273405
7MP0002064_seizures3.13650846
8MP0009046_muscle_twitch3.01573221
9MP0001968_abnormal_touch/_nociception2.82188332
10* MP0002272_abnormal_nervous_system2.69062828
11* MP0002572_abnormal_emotion/affect_behav2.64239255
12MP0005423_abnormal_somatic_nervous2.61381865
13MP0001486_abnormal_startle_reflex2.58540687
14MP0002734_abnormal_mechanical_nocicepti2.55553212
15MP0002822_catalepsy2.36939005
16MP0003329_amyloid_beta_deposits2.30228530
17MP0001501_abnormal_sleep_pattern2.30149828
18MP0001440_abnormal_grooming_behavior2.29592423
19MP0002736_abnormal_nociception_after2.27018852
20MP0002735_abnormal_chemical_nociception2.08865849
21MP0009780_abnormal_chondrocyte_physiolo2.06477424
22MP0008569_lethality_at_weaning2.04006353
23MP0002067_abnormal_sensory_capabilities1.95436309
24* MP0002733_abnormal_thermal_nociception1.85628921
25* MP0001970_abnormal_pain_threshold1.82243571
26MP0004858_abnormal_nervous_system1.81693578
27MP0004885_abnormal_endolymph1.81325454
28MP0002909_abnormal_adrenal_gland1.79230428
29MP0000778_abnormal_nervous_system1.73100139
30MP0005386_behavior/neurological_phenoty1.66609214
31MP0004924_abnormal_behavior1.66609214
32MP0002184_abnormal_innervation1.61291439
33MP0000955_abnormal_spinal_cord1.57231375
34MP0002557_abnormal_social/conspecific_i1.56395704
35MP0004811_abnormal_neuron_physiology1.54786478
36MP0003633_abnormal_nervous_system1.53035981
37MP0003879_abnormal_hair_cell1.52639746
38MP0000920_abnormal_myelination1.50967022
39MP0003690_abnormal_glial_cell1.49342606
40MP0003123_paternal_imprinting1.45533731
41MP0002066_abnormal_motor_capabilities/c1.44342205
42MP0004142_abnormal_muscle_tone1.43431380
43MP0002882_abnormal_neuron_morphology1.35811982
44MP0003631_nervous_system_phenotype1.33505003
45MP0005646_abnormal_pituitary_gland1.27082110
46MP0006276_abnormal_autonomic_nervous1.25761299
47MP0004145_abnormal_muscle_electrophysio1.23256927
48MP0001905_abnormal_dopamine_level1.19606220
49MP0003705_abnormal_hypodermis_morpholog1.19525191
50MP0000604_amyloidosis1.16709657
51MP0001984_abnormal_olfaction1.16259153
52MP0004742_abnormal_vestibular_system1.15129661
53MP0001529_abnormal_vocalization1.14991815
54MP0001502_abnormal_circadian_rhythm1.14140017
55MP0000751_myopathy1.14057471
56MP0002837_dystrophic_cardiac_calcinosis1.11946919
57MP0003634_abnormal_glial_cell1.10904263
58MP0002229_neurodegeneration1.08073376
59MP0003632_abnormal_nervous_system1.07705394
60MP0001348_abnormal_lacrimal_gland1.06204614
61MP0002152_abnormal_brain_morphology1.02454611
62MP0004043_abnormal_pH_regulation0.99867239
63* MP0005535_abnormal_body_temperature0.99778378
64MP0008872_abnormal_physiological_respon0.99693385
65MP0005645_abnormal_hypothalamus_physiol0.98047028
66MP0008874_decreased_physiological_sensi0.97480283
67MP0000013_abnormal_adipose_tissue0.96572629
68MP0002069_abnormal_eating/drinking_beha0.93883190
69MP0003075_altered_response_to0.93251302
70MP0001177_atelectasis0.91449029
71MP0002249_abnormal_larynx_morphology0.91262728
72MP0005551_abnormal_eye_electrophysiolog0.89532692
73MP0003787_abnormal_imprinting0.89105281
74MP0001346_abnormal_lacrimal_gland0.87533286
75MP0004085_abnormal_heartbeat0.86905877
76MP0004130_abnormal_muscle_cell0.86638763
77MP0005167_abnormal_blood-brain_barrier0.83759574
78MP0008961_abnormal_basal_metabolism0.83299659
79MP0001958_emphysema0.83014326
80MP0001485_abnormal_pinna_reflex0.81935109
81MP0000749_muscle_degeneration0.81860410
82MP0001963_abnormal_hearing_physiology0.80972257
83MP0004215_abnormal_myocardial_fiber0.78781693
84MP0000579_abnormal_nail_morphology0.78532342
85MP0002090_abnormal_vision0.76320126
86MP0002089_abnormal_postnatal_growth/wei0.75099241
87MP0003283_abnormal_digestive_organ0.72318834
88MP0004484_altered_response_of0.71203538
89MP0005623_abnormal_meninges_morphology0.71077368
90MP0002876_abnormal_thyroid_physiology0.69571181
91MP0002752_abnormal_somatic_nervous0.67772936
92MP0003137_abnormal_impulse_conducting0.66515565
93MP0002133_abnormal_respiratory_system0.63204047
94MP0005388_respiratory_system_phenotype0.63204047
95MP0000639_abnormal_adrenal_gland0.62263931
96MP0005410_abnormal_fertilization0.61462428
97MP0003122_maternal_imprinting0.60014170
98MP0000747_muscle_weakness0.60005915
99MP0003172_abnormal_lysosome_physiology0.57422458
100MP0001664_abnormal_digestion0.56880915
101MP0002295_abnormal_pulmonary_circulatio0.56313961
102MP0000566_synostosis0.54951982
103MP0004233_abnormal_muscle_weight0.54706442
104MP0005171_absent_coat_pigmentation0.54644627
105MP0000631_abnormal_neuroendocrine_gland0.54405900
106MP0004036_abnormal_muscle_relaxation0.54104256
107* MP0001943_abnormal_respiration0.53445417
108MP0004510_myositis0.52766333
109MP0000462_abnormal_digestive_system0.51884563
110MP0001188_hyperpigmentation0.51736697
111MP0003861_abnormal_nervous_system0.51484609
112MP0001765_abnormal_ion_homeostasis0.51367261
113MP0000026_abnormal_inner_ear0.51095240
114MP0001299_abnormal_eye_distance/0.50859247
115MP0010768_mortality/aging0.50309658
116MP0000759_abnormal_skeletal_muscle0.50249147
117MP0003279_aneurysm0.50244084
118MP0005409_darkened_coat_color0.50165452
119MP0005620_abnormal_muscle_contractility0.48873788
120MP0010770_preweaning_lethality0.48509186
121MP0002082_postnatal_lethality0.48509186
122MP0010769_abnormal_survival0.47393211
123MP0010386_abnormal_urinary_bladder0.47283198

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.05138188
2Myokymia (HP:0002411)6.95363375
3Focal seizures (HP:0007359)5.28627110
4Visual hallucinations (HP:0002367)4.86454544
5Action tremor (HP:0002345)4.50365299
6Epileptic encephalopathy (HP:0200134)4.32841000
7Progressive cerebellar ataxia (HP:0002073)4.22202085
8Atonic seizures (HP:0010819)4.10057137
9Supranuclear gaze palsy (HP:0000605)3.92703929
10Obstructive sleep apnea (HP:0002870)3.89753154
11Generalized tonic-clonic seizures (HP:0002069)3.77990036
12Ankle clonus (HP:0011448)3.73854424
13Absence seizures (HP:0002121)3.68879472
14Neurofibrillary tangles (HP:0002185)3.64684319
15Febrile seizures (HP:0002373)3.57011309
16Dysmetria (HP:0001310)3.51776504
17Gaze-evoked nystagmus (HP:0000640)3.50131711
18Dysdiadochokinesis (HP:0002075)3.45355808
19Dialeptic seizures (HP:0011146)3.43547162
20Cerebral inclusion bodies (HP:0100314)3.43205418
21Broad-based gait (HP:0002136)3.38191069
22Hyperventilation (HP:0002883)3.29453840
23Poor eye contact (HP:0000817)3.29428178
24Akinesia (HP:0002304)3.24680036
25Intention tremor (HP:0002080)3.16972049
26Impaired vibration sensation in the lower limbs (HP:0002166)3.14634195
27Depression (HP:0000716)3.10998461
28Scanning speech (HP:0002168)3.05714221
29Anxiety (HP:0000739)3.01738159
30Impaired social interactions (HP:0000735)3.01548376
31Abnormal social behavior (HP:0012433)3.01548376
32Postural instability (HP:0002172)2.95551404
33Truncal ataxia (HP:0002078)2.93260697
34Urinary bladder sphincter dysfunction (HP:0002839)2.92760355
35Abnormal eating behavior (HP:0100738)2.89722578
36Spastic gait (HP:0002064)2.88773723
37Abnormality of the corticospinal tract (HP:0002492)2.83381222
38Tetraplegia (HP:0002445)2.82618555
39Abnormality of the lower motor neuron (HP:0002366)2.78439215
40Cerebral hypomyelination (HP:0006808)2.76875413
41Urinary urgency (HP:0000012)2.75429541
42Amblyopia (HP:0000646)2.73373630
43Termporal pattern (HP:0011008)2.73330519
44Insidious onset (HP:0003587)2.73330519
45Torticollis (HP:0000473)2.72960141
46Hemiplegia (HP:0002301)2.72042432
47Hemiparesis (HP:0001269)2.68100703
48Abnormality of binocular vision (HP:0011514)2.63630639
49Diplopia (HP:0000651)2.63630639
50Focal dystonia (HP:0004373)2.56400058
51Dysmetric saccades (HP:0000641)2.53695007
52Megalencephaly (HP:0001355)2.52640899
53Turricephaly (HP:0000262)2.51827044
54Mutism (HP:0002300)2.50971497
55Drooling (HP:0002307)2.48569876
56Excessive salivation (HP:0003781)2.48569876
57Pheochromocytoma (HP:0002666)2.48308246
58Impaired smooth pursuit (HP:0007772)2.44012144
59Genetic anticipation (HP:0003743)2.42372567
60Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.40021097
61Degeneration of the lateral corticospinal tracts (HP:0002314)2.40021097
62Papilledema (HP:0001085)2.39021062
63Status epilepticus (HP:0002133)2.37172717
64Epileptiform EEG discharges (HP:0011182)2.35107794
65Upper limb amyotrophy (HP:0009129)2.33392870
66Distal upper limb amyotrophy (HP:0007149)2.33392870
67Sleep apnea (HP:0010535)2.33271723
68Lower limb muscle weakness (HP:0007340)2.32918393
69Bradykinesia (HP:0002067)2.32691780
70Apathy (HP:0000741)2.32127907
71Craniofacial dystonia (HP:0012179)2.32013374
72Impaired vibratory sensation (HP:0002495)2.30159112
73Hyperacusis (HP:0010780)2.29986058
74Lower limb amyotrophy (HP:0007210)2.27731131
75Clonus (HP:0002169)2.26443685
76EEG with generalized epileptiform discharges (HP:0011198)2.25231125
77Ventricular fibrillation (HP:0001663)2.21922220
78Progressive inability to walk (HP:0002505)2.19599389
79Abnormality of ocular smooth pursuit (HP:0000617)2.19208095
80Hypsarrhythmia (HP:0002521)2.16136206
81Gait ataxia (HP:0002066)2.11626693
82Hyporeflexia of lower limbs (HP:0002600)2.11074473
83Abnormality of saccadic eye movements (HP:0000570)2.10850261
84Stereotypic behavior (HP:0000733)2.10331584
85Neuronal loss in central nervous system (HP:0002529)2.09882462
86Generalized myoclonic seizures (HP:0002123)2.08738623
87Diminished motivation (HP:0000745)2.08333852
88Hand muscle atrophy (HP:0009130)2.07998591
89Neuroendocrine neoplasm (HP:0100634)2.07613620
90Absent speech (HP:0001344)2.06542533
91Shallow orbits (HP:0000586)2.06024481
92Peripheral hypomyelination (HP:0007182)2.02249607
93Bundle branch block (HP:0011710)2.02080869
94Postural tremor (HP:0002174)2.01039531
95Foot dorsiflexor weakness (HP:0009027)2.00941642
96Increased circulating renin level (HP:0000848)1.98923438
97Fetal akinesia sequence (HP:0001989)1.97489354
98Overriding aorta (HP:0002623)1.94128667
99Pointed chin (HP:0000307)1.93306985
100Rigidity (HP:0002063)1.92618651
101Abnormality of the periventricular white matter (HP:0002518)1.92312313
102Onion bulb formation (HP:0003383)1.91055668
103Annular pancreas (HP:0001734)1.90205713
104Bronchomalacia (HP:0002780)1.90185330
105Heart block (HP:0012722)1.90048695
106Abnormal atrioventricular conduction (HP:0005150)1.90037969
107Blue irides (HP:0000635)1.89691524
108Cerebral aneurysm (HP:0004944)1.89659094
109Aplasia involving bones of the extremities (HP:0009825)1.88552044
110Aplasia involving bones of the upper limbs (HP:0009823)1.88552044
111Aplasia of the phalanges of the hand (HP:0009802)1.88552044
112Hammertoe (HP:0001765)1.87989683
113Delusions (HP:0000746)1.87656488
114Limb dystonia (HP:0002451)1.87168471
115Psychosis (HP:0000709)1.87061358
116Split foot (HP:0001839)1.86730632
117Rapidly progressive (HP:0003678)1.86659481
118Abnormality of the foot musculature (HP:0001436)1.86321186
119Incomplete penetrance (HP:0003829)1.85106768
120Spastic tetraparesis (HP:0001285)1.81280458
121Clumsiness (HP:0002312)1.80513005
122Distal sensory impairment (HP:0002936)1.80482098
123Insomnia (HP:0100785)1.80251907
124Resting tremor (HP:0002322)1.79397058
125Slow progression (HP:0003677)1.79390050
126Anomalous pulmonary venous return (HP:0010772)1.79214189
127Agitation (HP:0000713)1.79148716
128Atrioventricular block (HP:0001678)1.77723436
129Stridor (HP:0010307)1.77304182
130Inability to walk (HP:0002540)1.74457063
131Choreoathetosis (HP:0001266)1.74007113
132Lower limb asymmetry (HP:0100559)1.72655431
133Spinal canal stenosis (HP:0003416)1.71504301

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.18563654
2NTRK33.99909521
3MAP3K93.41160587
4MAP3K42.74426640
5DAPK22.66700350
6MINK12.44000522
7MARK12.41687497
8PRKD32.36309735
9PAK62.29560046
10KSR22.16208142
11MAP2K72.11738618
12NTRK11.87150827
13MAP2K41.86841311
14RIPK41.85407348
15CASK1.85114478
16NTRK21.81899908
17CAMKK11.78859955
18CDK191.76858891
19CDK51.53264979
20OXSR11.48155301
21PRPF4B1.47799698
22TYRO31.42053431
23TRIB31.40174116
24MAP3K121.36357000
25PNCK1.35644293
26KSR11.34688948
27GRK51.33907205
28DAPK11.29720129
29PLK21.25474654
30STK381.25157143
31ARAF1.20764602
32TNIK1.19345900
33LIMK11.18221965
34PRKCG1.17852957
35PHKG21.17713207
36PHKG11.17713207
37CAMKK21.16758679
38MUSK1.15888440
39STK391.14932539
40MAP3K21.14014967
41SGK2231.13597076
42SGK4941.13597076
43MAPK131.12478487
44TESK11.12339543
45MAP3K131.11211558
46PTK2B1.09329556
47UHMK11.08603965
48CAMK2A1.06526361
49PINK11.04992977
50CAMK2B1.03860901
51SIK21.00273549
52WNK10.95793809
53LMTK20.95271328
54PRKCH0.94102149
55CAMK10.93683428
56STK110.92981995
57FES0.91709088
58MOS0.91533476
59PDGFRA0.89747115
60RET0.88038972
61CDK150.87114534
62PDPK10.86727857
63CDK180.86338854
64CDK140.85743596
65SIK10.85174466
66CAMK1G0.84598560
67BRSK10.83366261
68PAK30.82360241
69PDK10.80919982
70LATS20.76493393
71CDK11A0.75254779
72MARK20.70746822
73CAMK2G0.70491271
74PTK20.70302924
75BMPR20.69985482
76CAMK2D0.69122252
77CSNK1G20.68625507
78PKN10.68217654
79RAF10.68050598
80FGFR20.67815939
81SGK10.67756134
82RIPK10.67588070
83FGR0.67538248
84TAOK10.67161383
85SGK20.65125387
86ROCK10.64313646
87SGK30.63848949
88DYRK1A0.62026327
89NEK60.61948417
90ROCK20.59815327
91MAPKAPK50.58509753
92MAP3K10.58124545
93WNK40.57207855
94ICK0.56984263
95BRAF0.56141267
96PRKCE0.55114695
97PRKCZ0.54449699
98PAK20.53980301
99MAP3K70.53514845
100ALK0.52162804
101DAPK30.51294952
102RPS6KA30.50935268
103DMPK0.50903109
104DDR20.49553509
105FYN0.47716528
106CAMK40.46869795
107MAP2K10.45833895
108MAP3K110.44884117
109FER0.44551664
110MAPK120.44387166
111PRKD10.43746132
112MAPK100.42531280
113CDC42BPA0.42148173
114RPS6KA20.41079074
115BCR0.39015664
116IRAK20.38390010
117TNK20.37670691
118NME10.37340387
119PRKG20.34676748
120MAPK40.33984063
121ERBB20.33904858
122TTN0.29235429

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.27544462
2Synaptic vesicle cycle_Homo sapiens_hsa047212.85475922
3Nitrogen metabolism_Homo sapiens_hsa009102.52537260
4Glutamatergic synapse_Homo sapiens_hsa047242.52198017
5Long-term potentiation_Homo sapiens_hsa047202.51542104
6Circadian entrainment_Homo sapiens_hsa047132.51043630
7GABAergic synapse_Homo sapiens_hsa047272.46660282
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.46515842
9Olfactory transduction_Homo sapiens_hsa047402.39854627
10Amphetamine addiction_Homo sapiens_hsa050312.25397612
11* Morphine addiction_Homo sapiens_hsa050322.17419772
12Salivary secretion_Homo sapiens_hsa049702.17318818
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.12931288
14Aldosterone synthesis and secretion_Homo sapiens_hsa049251.95236251
15Dopaminergic synapse_Homo sapiens_hsa047281.93953526
16Gastric acid secretion_Homo sapiens_hsa049711.93299790
17Insulin secretion_Homo sapiens_hsa049111.88328032
18Cholinergic synapse_Homo sapiens_hsa047251.67740910
19Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.64539149
20Long-term depression_Homo sapiens_hsa047301.60929670
21Vitamin B6 metabolism_Homo sapiens_hsa007501.60095194
22Taste transduction_Homo sapiens_hsa047421.59817134
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.59467904
24* Renin secretion_Homo sapiens_hsa049241.52655893
25Oxytocin signaling pathway_Homo sapiens_hsa049211.50681280
26Calcium signaling pathway_Homo sapiens_hsa040201.48394454
27Serotonergic synapse_Homo sapiens_hsa047261.43134673
28Cocaine addiction_Homo sapiens_hsa050301.42818084
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.39236070
30Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.36442456
31GnRH signaling pathway_Homo sapiens_hsa049121.27612505
32* cAMP signaling pathway_Homo sapiens_hsa040241.22917953
33Gap junction_Homo sapiens_hsa045401.22554250
34Collecting duct acid secretion_Homo sapiens_hsa049661.16784468
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.15512705
36Type II diabetes mellitus_Homo sapiens_hsa049301.09195032
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.06543019
38Pancreatic secretion_Homo sapiens_hsa049721.02878295
39Axon guidance_Homo sapiens_hsa043601.02725696
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.02554093
41Estrogen signaling pathway_Homo sapiens_hsa049151.00659620
42Cardiac muscle contraction_Homo sapiens_hsa042601.00015375
43* cGMP-PKG signaling pathway_Homo sapiens_hsa040220.96760083
44Vascular smooth muscle contraction_Homo sapiens_hsa042700.96275169
45Glioma_Homo sapiens_hsa052140.94207862
46Melanogenesis_Homo sapiens_hsa049160.90763370
47Bile secretion_Homo sapiens_hsa049760.90665713
48* Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.89518965
49ErbB signaling pathway_Homo sapiens_hsa040120.88424679
50Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.86860811
51Dorso-ventral axis formation_Homo sapiens_hsa043200.84900882
52Phospholipase D signaling pathway_Homo sapiens_hsa040720.84245377
53Thyroid hormone synthesis_Homo sapiens_hsa049180.83343217
54* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.82795715
55Fatty acid biosynthesis_Homo sapiens_hsa000610.78483989
56Vibrio cholerae infection_Homo sapiens_hsa051100.70767114
57Arginine biosynthesis_Homo sapiens_hsa002200.70179191
58Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.69241671
59Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.69090293
60Arginine and proline metabolism_Homo sapiens_hsa003300.66360166
61Choline metabolism in cancer_Homo sapiens_hsa052310.65237555
62Carbohydrate digestion and absorption_Homo sapiens_hsa049730.65152889
63Histidine metabolism_Homo sapiens_hsa003400.64772861
64Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.64123507
65Butanoate metabolism_Homo sapiens_hsa006500.63909138
66Dilated cardiomyopathy_Homo sapiens_hsa054140.63690897
67Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.63548908
68Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.62473790
69Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.59084135
70Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.58504745
71Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.57993444
72Glucagon signaling pathway_Homo sapiens_hsa049220.57788234
73Oocyte meiosis_Homo sapiens_hsa041140.57427197
74Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.57244470
75Phototransduction_Homo sapiens_hsa047440.55203914
76VEGF signaling pathway_Homo sapiens_hsa043700.55165293
77Tight junction_Homo sapiens_hsa045300.54164013
78Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.53575778
79ECM-receptor interaction_Homo sapiens_hsa045120.53354607
80MAPK signaling pathway_Homo sapiens_hsa040100.52617842
81Focal adhesion_Homo sapiens_hsa045100.52472595
82Ovarian steroidogenesis_Homo sapiens_hsa049130.52181058
832-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.51031762
84AMPK signaling pathway_Homo sapiens_hsa041520.50333418
85Ras signaling pathway_Homo sapiens_hsa040140.48683213
86beta-Alanine metabolism_Homo sapiens_hsa004100.47001322
87Glycerolipid metabolism_Homo sapiens_hsa005610.46075462
88Glycerophospholipid metabolism_Homo sapiens_hsa005640.46001070
89Prion diseases_Homo sapiens_hsa050200.45677154
90Hippo signaling pathway_Homo sapiens_hsa043900.44363053
91Rap1 signaling pathway_Homo sapiens_hsa040150.43308856
92* Sphingolipid signaling pathway_Homo sapiens_hsa040710.43108288
93Endometrial cancer_Homo sapiens_hsa052130.43056566
94Inositol phosphate metabolism_Homo sapiens_hsa005620.42731036
95Endocytosis_Homo sapiens_hsa041440.42280271
96Central carbon metabolism in cancer_Homo sapiens_hsa052300.41725928
97Neurotrophin signaling pathway_Homo sapiens_hsa047220.41268907
98Fatty acid metabolism_Homo sapiens_hsa012120.41117265
99Wnt signaling pathway_Homo sapiens_hsa043100.40095055
100Alzheimers disease_Homo sapiens_hsa050100.39375396
101Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.39033131
102Thyroid hormone signaling pathway_Homo sapiens_hsa049190.37960187
103Regulation of actin cytoskeleton_Homo sapiens_hsa048100.36466648
104Renal cell carcinoma_Homo sapiens_hsa052110.35380521
105Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.35225984
106Insulin signaling pathway_Homo sapiens_hsa049100.34331656
107Longevity regulating pathway - mammal_Homo sapiens_hsa042110.32417830
108Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.32025853
109Propanoate metabolism_Homo sapiens_hsa006400.29844998
110Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.29797381
111Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.29574394
112Fatty acid elongation_Homo sapiens_hsa000620.29220917
113Mineral absorption_Homo sapiens_hsa049780.29015093
114PPAR signaling pathway_Homo sapiens_hsa033200.28276047
115Circadian rhythm_Homo sapiens_hsa047100.27724407
116mTOR signaling pathway_Homo sapiens_hsa041500.27375687
117Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.25781628

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