GUCY1A2

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: Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1presynaptic membrane organization (GO:0097090)6.30358791
2presynaptic membrane assembly (GO:0097105)5.83694537
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.63822264
4vocalization behavior (GO:0071625)5.32162583
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.03951905
6ionotropic glutamate receptor signaling pathway (GO:0035235)4.94643514
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.86210996
8neuron cell-cell adhesion (GO:0007158)4.85841492
9glutamate secretion (GO:0014047)4.84875796
10synaptic vesicle exocytosis (GO:0016079)4.75124580
11protein localization to synapse (GO:0035418)4.64992468
12glutamate receptor signaling pathway (GO:0007215)4.61031449
13locomotory exploration behavior (GO:0035641)4.54588547
14regulation of glutamate receptor signaling pathway (GO:1900449)4.47610723
15synaptic transmission, glutamatergic (GO:0035249)4.38577754
16positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.35839254
17neuron-neuron synaptic transmission (GO:0007270)4.31044246
18positive regulation of phosphoprotein phosphatase activity (GO:0032516)4.30829948
19regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.28733101
20synaptic vesicle maturation (GO:0016188)4.17664347
21negative regulation of synaptic transmission, GABAergic (GO:0032229)4.14150519
22regulation of synaptic vesicle exocytosis (GO:2000300)4.12446343
23regulation of long-term neuronal synaptic plasticity (GO:0048169)4.09037859
24neuron recognition (GO:0008038)4.05293776
25neurotransmitter-gated ion channel clustering (GO:0072578)4.04919502
26regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.03162563
27synaptic vesicle docking involved in exocytosis (GO:0016081)3.96412639
28sodium ion export (GO:0071436)3.95596613
29positive regulation of synapse maturation (GO:0090129)3.89245111
30exploration behavior (GO:0035640)3.88848090
31regulation of excitatory postsynaptic membrane potential (GO:0060079)3.86792083
32cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.85353299
33axonal fasciculation (GO:0007413)3.82448321
34gamma-aminobutyric acid signaling pathway (GO:0007214)3.80444493
35regulation of neuronal synaptic plasticity (GO:0048168)3.75920403
36negative regulation of cytosolic calcium ion concentration (GO:0051481)3.73885263
37regulation of postsynaptic membrane potential (GO:0060078)3.73257103
38neuronal action potential propagation (GO:0019227)3.71899724
39behavioral fear response (GO:0001662)3.70791268
40behavioral defense response (GO:0002209)3.70791268
41G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.69900162
42regulation of synaptic vesicle transport (GO:1902803)3.69442794
43regulation of synapse structural plasticity (GO:0051823)3.67691735
44potassium ion import (GO:0010107)3.65005965
45dendritic spine morphogenesis (GO:0060997)3.62001428
46layer formation in cerebral cortex (GO:0021819)3.57939251
47postsynaptic membrane organization (GO:0001941)3.57272006
48neurotransmitter secretion (GO:0007269)3.54961634
49cerebellar Purkinje cell differentiation (GO:0021702)3.48836634
50negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.47338050
51cochlea development (GO:0090102)3.45405747
52regulation of dendritic spine morphogenesis (GO:0061001)3.43111998
53regulation of synaptic transmission, glutamatergic (GO:0051966)3.41369435
54auditory behavior (GO:0031223)3.40601535
55fear response (GO:0042596)3.40417945
56long-term memory (GO:0007616)3.36197679
57positive regulation of synapse assembly (GO:0051965)3.35828433
58cell communication by electrical coupling (GO:0010644)3.35210267
59response to histamine (GO:0034776)3.34711270
60regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.34694621
61startle response (GO:0001964)3.34461160
62regulation of synaptic plasticity (GO:0048167)3.33775719
63proline transport (GO:0015824)3.32240916
64positive regulation of membrane potential (GO:0045838)3.30588833
65gamma-aminobutyric acid transport (GO:0015812)3.29036081
66membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.27415619
67long-term synaptic potentiation (GO:0060291)3.27197376
68cellular sodium ion homeostasis (GO:0006883)3.26392100
69dendrite morphogenesis (GO:0048813)3.22370507
70positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.19586912
71regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.19281304
72atrial cardiac muscle cell action potential (GO:0086014)3.18055146
73membrane assembly (GO:0071709)3.17958930
74transmission of nerve impulse (GO:0019226)3.17511685
75synaptic vesicle endocytosis (GO:0048488)3.17074585
76central nervous system projection neuron axonogenesis (GO:0021952)3.10968472
77cerebellar granule cell differentiation (GO:0021707)3.10904945
78serotonin metabolic process (GO:0042428)3.09169466
79regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.07032259
80behavioral response to cocaine (GO:0048148)3.06948971
81positive regulation of cardiac muscle cell differentiation (GO:2000727)3.05078444
82relaxation of smooth muscle (GO:0044557)3.03892828
83membrane depolarization (GO:0051899)3.03584416
84regulation of dendritic spine development (GO:0060998)3.03261721
85central nervous system neuron axonogenesis (GO:0021955)3.03238577
86regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.03139115
87learning (GO:0007612)2.99418704
88regulation of synapse maturation (GO:0090128)2.99172217
89dendrite development (GO:0016358)2.97593170
90neurotransmitter transport (GO:0006836)2.94242276
91cellular potassium ion homeostasis (GO:0030007)2.91749664
92regulation of neurotransmitter secretion (GO:0046928)2.91420222
93regulation of synapse assembly (GO:0051963)2.90127692
94synapse assembly (GO:0007416)2.89411454
95positive regulation of synaptic transmission, GABAergic (GO:0032230)2.89360582
96mechanosensory behavior (GO:0007638)2.89272513
97membrane hyperpolarization (GO:0060081)2.88870873
98positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.88057611
99innervation (GO:0060384)2.88034328
100G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.87152898
101cell communication involved in cardiac conduction (GO:0086065)2.86701314
102negative regulation of dendrite development (GO:2000171)2.86606771
103positive regulation of dendritic spine morphogenesis (GO:0061003)2.86334320
104neuromuscular process controlling balance (GO:0050885)2.86246061
105regulation of synapse organization (GO:0050807)2.85045005
106positive regulation of neurotransmitter secretion (GO:0001956)2.84808255
107relaxation of cardiac muscle (GO:0055119)2.83245703
108positive regulation of dendritic spine development (GO:0060999)2.82866318
109cell migration in hindbrain (GO:0021535)2.82024089
110long term synaptic depression (GO:0060292)2.81675425
111regulation of sarcomere organization (GO:0060297)2.81382128
112axon extension (GO:0048675)2.80537168
113response to auditory stimulus (GO:0010996)2.80080189
114cardiac myofibril assembly (GO:0055003)2.79606799
115activation of protein kinase A activity (GO:0034199)2.79415970
116regulation of synaptic transmission, GABAergic (GO:0032228)2.79394435
117membrane depolarization during action potential (GO:0086010)2.77644401
118neuromuscular process (GO:0050905)2.77068372
119synapse organization (GO:0050808)2.77054649
120synaptic transmission (GO:0007268)2.77021579
121regulation of axon guidance (GO:1902667)2.76902144
122myotube differentiation (GO:0014902)2.72714245
123regulation of axon extension involved in axon guidance (GO:0048841)2.71914834
124L-amino acid import (GO:0043092)2.69250892
125regulation of cardiac muscle cell contraction (GO:0086004)2.67342243
126pyrimidine nucleobase catabolic process (GO:0006208)2.66534293
127positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.64114936
128cardiac muscle hypertrophy in response to stress (GO:0014898)2.60650718
129muscle hypertrophy in response to stress (GO:0003299)2.60650718
130cardiac muscle adaptation (GO:0014887)2.60650718
131positive regulation of potassium ion transmembrane transport (GO:1901381)2.58629060
132myelination in peripheral nervous system (GO:0022011)2.55969082
133peripheral nervous system axon ensheathment (GO:0032292)2.55969082
134cardiac muscle hypertrophy (GO:0003300)2.55377575
135establishment of nucleus localization (GO:0040023)2.54964433
136cyclic nucleotide catabolic process (GO:0009214)2.54227102
137relaxation of muscle (GO:0090075)2.53356821
138cAMP-mediated signaling (GO:0019933)2.52135281
139positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.50679438
140cAMP catabolic process (GO:0006198)2.49428022

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.64460522
2GBX2_23144817_ChIP-Seq_PC3_Human4.41492167
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.14714880
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.10053974
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.07116589
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.69212862
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.69212862
8SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.64998725
9SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.59495749
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.55242324
11SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.53201667
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.52983808
13EED_16625203_ChIP-ChIP_MESCs_Mouse2.51842209
14GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.51337900
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.29578849
16TAF15_26573619_Chip-Seq_HEK293_Human2.25125080
17REST_21632747_ChIP-Seq_MESCs_Mouse2.20325274
18RNF2_27304074_Chip-Seq_ESCs_Mouse2.18736411
19SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.17592903
20CTBP2_25329375_ChIP-Seq_LNCAP_Human2.14099918
21ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.06763847
22DROSHA_22980978_ChIP-Seq_HELA_Human2.04142555
23SUZ12_27294783_Chip-Seq_ESCs_Mouse2.00126326
24EZH2_27294783_Chip-Seq_ESCs_Mouse1.97626704
25RARB_27405468_Chip-Seq_BRAIN_Mouse1.90740665
26SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.90432186
27CTBP1_25329375_ChIP-Seq_LNCAP_Human1.88998295
28* SMAD4_21799915_ChIP-Seq_A2780_Human1.88891667
29* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.86337128
30AR_21572438_ChIP-Seq_LNCaP_Human1.80437591
31* P300_19829295_ChIP-Seq_ESCs_Human1.76732136
32SMAD_19615063_ChIP-ChIP_OVARY_Human1.75341995
33* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.70684220
34CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.65888433
35REST_18959480_ChIP-ChIP_MESCs_Mouse1.65579750
36PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.63662845
37RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.61539459
38PIAS1_25552417_ChIP-Seq_VCAP_Human1.60325150
39HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.60252558
40NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.59506573
41FUS_26573619_Chip-Seq_HEK293_Human1.50806858
42EP300_21415370_ChIP-Seq_HL-1_Mouse1.50009754
43CBX2_27304074_Chip-Seq_ESCs_Mouse1.49841687
44POU3F2_20337985_ChIP-ChIP_501MEL_Human1.49403613
45* SMAD3_21741376_ChIP-Seq_EPCs_Human1.49300415
46* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.48355227
47* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.46143040
48CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.45644680
49OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.43184576
50STAT3_23295773_ChIP-Seq_U87_Human1.39960559
51AR_25329375_ChIP-Seq_VCAP_Human1.38311497
52MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.38061054
53AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.37945970
54TOP2B_26459242_ChIP-Seq_MCF-7_Human1.37535422
55IGF1R_20145208_ChIP-Seq_DFB_Human1.36216390
56ARNT_22903824_ChIP-Seq_MCF-7_Human1.35648153
57SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.35484123
58SOX2_21211035_ChIP-Seq_LN229_Gbm1.35098534
59ZNF217_24962896_ChIP-Seq_MCF-7_Human1.33693310
60NR3C1_23031785_ChIP-Seq_PC12_Mouse1.32843628
61RNF2_27304074_Chip-Seq_NSC_Mouse1.31179322
62FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.30634912
63RING1B_27294783_Chip-Seq_ESCs_Mouse1.29815203
64EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.29738715
65GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27946342
66IKZF1_21737484_ChIP-ChIP_HCT116_Human1.23406144
67TP53_16413492_ChIP-PET_HCT116_Human1.23013084
68AHR_22903824_ChIP-Seq_MCF-7_Human1.22573139
69TCF4_23295773_ChIP-Seq_U87_Human1.21892041
70AR_19668381_ChIP-Seq_PC3_Human1.21277234
71CDX2_19796622_ChIP-Seq_MESCs_Mouse1.19707241
72LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19552055
73NRF2_20460467_ChIP-Seq_MEFs_Mouse1.19177964
74NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.19177964
75TP53_18474530_ChIP-ChIP_U2OS_Human1.18566640
76TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.18056581
77ZNF274_21170338_ChIP-Seq_K562_Hela1.17962248
78CTNNB1_20460455_ChIP-Seq_HCT116_Human1.17297695
79* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.16492250
80RING1B_27294783_Chip-Seq_NPCs_Mouse1.15838200
81ERG_21242973_ChIP-ChIP_JURKAT_Human1.15441022
82EWS_26573619_Chip-Seq_HEK293_Human1.14126281
83EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.14124421
84* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.13985539
85TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.13717498
86WT1_25993318_ChIP-Seq_PODOCYTE_Human1.12033086
87MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.10083908
88KDM2B_26808549_Chip-Seq_REH_Human1.09433284
89CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.09131132
90* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.08895920
91SOX9_26525672_Chip-Seq_HEART_Mouse1.07869679
92PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.07815594
93VDR_22108803_ChIP-Seq_LS180_Human1.07261380
94* RUNX2_22187159_ChIP-Seq_PCA_Human1.06229051
95MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.06208704
96TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.05839542
97WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.05694909
98PRDM14_20953172_ChIP-Seq_ESCs_Human1.05613023
99NR3C1_21868756_ChIP-Seq_MCF10A_Human1.04533243
100BCAT_22108803_ChIP-Seq_LS180_Human1.04183835
101RBPJ_22232070_ChIP-Seq_NCS_Mouse1.02985347
102TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.02890976
103JUN_21703547_ChIP-Seq_K562_Human1.02429077
104POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.02080078
105TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02080078
106BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.00467131
107NANOG_18555785_Chip-Seq_ESCs_Mouse0.98877963
108TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.97080494
109ER_23166858_ChIP-Seq_MCF-7_Human0.97055454
110CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96783918
111SMAD3_21741376_ChIP-Seq_HESCs_Human0.96225847
112RXR_22108803_ChIP-Seq_LS180_Human0.96017553
113ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.95772545
114SMAD4_21741376_ChIP-Seq_HESCs_Human0.95409550
115TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95054801
116RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.94585253

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.94414905
2MP0003880_abnormal_central_pattern5.15792844
3MP0003635_abnormal_synaptic_transmissio3.91938502
4MP0004270_analgesia3.41441350
5MP0002063_abnormal_learning/memory/cond3.23359958
6MP0009745_abnormal_behavioral_response3.20990178
7MP0002064_seizures2.86376161
8MP0001968_abnormal_touch/_nociception2.84874442
9MP0009046_muscle_twitch2.82934649
10MP0002572_abnormal_emotion/affect_behav2.82431852
11MP0001486_abnormal_startle_reflex2.41042180
12MP0002735_abnormal_chemical_nociception2.36575454
13MP0002272_abnormal_nervous_system2.28977167
14MP0002736_abnormal_nociception_after2.28538406
15MP0005423_abnormal_somatic_nervous2.27278264
16MP0002734_abnormal_mechanical_nocicepti2.26640983
17MP0001501_abnormal_sleep_pattern2.17085629
18MP0001440_abnormal_grooming_behavior2.13214632
19MP0000778_abnormal_nervous_system2.13162024
20MP0009780_abnormal_chondrocyte_physiolo2.00929604
21MP0006276_abnormal_autonomic_nervous1.95198641
22MP0002733_abnormal_thermal_nociception1.92079791
23MP0002184_abnormal_innervation1.90817075
24MP0002067_abnormal_sensory_capabilities1.90019231
25MP0001188_hyperpigmentation1.74238318
26MP0002557_abnormal_social/conspecific_i1.69714353
27MP0005386_behavior/neurological_phenoty1.65985794
28MP0004924_abnormal_behavior1.65985794
29MP0001970_abnormal_pain_threshold1.64051189
30MP0004858_abnormal_nervous_system1.63843158
31MP0005646_abnormal_pituitary_gland1.61531013
32MP0004811_abnormal_neuron_physiology1.59146770
33MP0002822_catalepsy1.56030434
34MP0003122_maternal_imprinting1.55025327
35MP0001529_abnormal_vocalization1.50913029
36MP0008569_lethality_at_weaning1.49524155
37MP0005171_absent_coat_pigmentation1.48118533
38MP0003283_abnormal_digestive_organ1.42800387
39MP0003787_abnormal_imprinting1.41122457
40MP0000955_abnormal_spinal_cord1.39215455
41MP0001984_abnormal_olfaction1.38280451
42MP0000462_abnormal_digestive_system1.35481039
43MP0005248_abnormal_Harderian_gland1.33078384
44MP0000534_abnormal_ureter_morphology1.32202778
45MP0003329_amyloid_beta_deposits1.31206652
46MP0003879_abnormal_hair_cell1.30553876
47MP0003136_yellow_coat_color1.29834652
48MP0002882_abnormal_neuron_morphology1.28694560
49MP0001879_abnormal_lymphatic_vessel1.27111550
50MP0002066_abnormal_motor_capabilities/c1.26046136
51MP0002638_abnormal_pupillary_reflex1.26034733
52MP0004145_abnormal_muscle_electrophysio1.23392612
53MP0002009_preneoplasia1.20338372
54MP0003633_abnormal_nervous_system1.18048077
55MP0004084_abnormal_cardiac_muscle1.17954901
56MP0000537_abnormal_urethra_morphology1.14842678
57MP0002152_abnormal_brain_morphology1.12304548
58MP0005645_abnormal_hypothalamus_physiol1.11066265
59MP0010368_abnormal_lymphatic_system1.09542571
60MP0005499_abnormal_olfactory_system1.05893029
61MP0005394_taste/olfaction_phenotype1.05893029
62MP0004142_abnormal_muscle_tone1.03395486
63MP0005503_abnormal_tendon_morphology1.02057135
64MP0002102_abnormal_ear_morphology1.01878342
65MP0000566_synostosis1.01469342
66MP0004036_abnormal_muscle_relaxation1.00587929
67MP0001485_abnormal_pinna_reflex1.00329173
68MP0002909_abnormal_adrenal_gland0.99663311
69MP0002837_dystrophic_cardiac_calcinosis0.99472992
70MP0001502_abnormal_circadian_rhythm0.99448162
71MP0003631_nervous_system_phenotype0.97330126
72MP0000751_myopathy0.94734762
73MP0001905_abnormal_dopamine_level0.94561219
74MP0005623_abnormal_meninges_morphology0.94092630
75MP0004272_abnormal_basement_membrane0.92300027
76MP0005187_abnormal_penis_morphology0.92062211
77MP0004885_abnormal_endolymph0.89074920
78MP0004085_abnormal_heartbeat0.88863021
79MP0009384_cardiac_valve_regurgitation0.88526865
80MP0008872_abnormal_physiological_respon0.85082888
81MP0009250_abnormal_appendicular_skeleto0.84128718
82MP0002751_abnormal_autonomic_nervous0.83862632
83MP0000631_abnormal_neuroendocrine_gland0.83833155
84MP0001963_abnormal_hearing_physiology0.83494540
85MP0000569_abnormal_digit_pigmentation0.83091915
86MP0004742_abnormal_vestibular_system0.82935533
87MP0001299_abnormal_eye_distance/0.82641567
88MP0002234_abnormal_pharynx_morphology0.81816839
89MP0002752_abnormal_somatic_nervous0.79509249
90MP0005367_renal/urinary_system_phenotyp0.78365340
91MP0000516_abnormal_urinary_system0.78365340
92MP0003690_abnormal_glial_cell0.78311411
93MP0004484_altered_response_of0.77947661
94MP0004233_abnormal_muscle_weight0.77360292
95MP0002069_abnormal_eating/drinking_beha0.77309019
96MP0003935_abnormal_craniofacial_develop0.75916846
97MP0003890_abnormal_embryonic-extraembry0.75619658
98MP0008438_abnormal_cutaneous_collagen0.75354368
99MP0004215_abnormal_myocardial_fiber0.75236100
100MP0003938_abnormal_ear_development0.74696817
101MP0001177_atelectasis0.74217770
102MP0005551_abnormal_eye_electrophysiolog0.73218066
103MP0003861_abnormal_nervous_system0.72683637
104MP0005275_abnormal_skin_tensile0.71678907
105MP0008874_decreased_physiological_sensi0.71415083
106MP0002127_abnormal_cardiovascular_syste0.71328475
107MP0000749_muscle_degeneration0.71243442
108MP0003942_abnormal_urinary_system0.70980982
109MP0005595_abnormal_vascular_smooth0.69108774
110MP0003385_abnormal_body_wall0.68922674
111MP0003119_abnormal_digestive_system0.68404008
112MP0002653_abnormal_ependyma_morphology0.67970571
113MP0003137_abnormal_impulse_conducting0.67203499
114MP0004134_abnormal_chest_morphology0.65633888
115MP0005409_darkened_coat_color0.65161093
116MP0006292_abnormal_olfactory_placode0.65156408
117MP0000026_abnormal_inner_ear0.64165611
118MP0010386_abnormal_urinary_bladder0.63156971
119MP0000013_abnormal_adipose_tissue0.62543613
120MP0003632_abnormal_nervous_system0.62084163
121MP0005535_abnormal_body_temperature0.62038631
122MP0001943_abnormal_respiration0.61579978
123MP0003121_genomic_imprinting0.61394177
124MP0003634_abnormal_glial_cell0.60208332
125MP0004130_abnormal_muscle_cell0.60119088
126MP0008961_abnormal_basal_metabolism0.59120601
127MP0005620_abnormal_muscle_contractility0.58292502
128MP0002249_abnormal_larynx_morphology0.58260340

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.59624588
2Focal seizures (HP:0007359)5.39140164
3Epileptic encephalopathy (HP:0200134)4.90212276
4Hyperventilation (HP:0002883)4.71137005
5Myokymia (HP:0002411)4.55341291
6Atonic seizures (HP:0010819)4.25412477
7Febrile seizures (HP:0002373)4.16433592
8Visual hallucinations (HP:0002367)3.75990713
9Progressive cerebellar ataxia (HP:0002073)3.75919086
10Absence seizures (HP:0002121)3.73610615
11Absent speech (HP:0001344)3.64914479
12Dialeptic seizures (HP:0011146)3.63925882
13Broad-based gait (HP:0002136)3.60051569
14Generalized tonic-clonic seizures (HP:0002069)3.17950827
15Excessive salivation (HP:0003781)3.12201319
16Drooling (HP:0002307)3.12201319
17Amblyopia (HP:0000646)3.09449903
18Hepatoblastoma (HP:0002884)3.09367272
19Inability to walk (HP:0002540)3.05732866
20Retinal dysplasia (HP:0007973)3.00370323
21Scanning speech (HP:0002168)2.97407507
22Gaze-evoked nystagmus (HP:0000640)2.96018339
23Action tremor (HP:0002345)2.94062302
24Epileptiform EEG discharges (HP:0011182)2.88042766
25Abnormality of the ischium (HP:0003174)2.86943814
26Truncal ataxia (HP:0002078)2.75273591
27Type II lissencephaly (HP:0007260)2.74203574
28Pheochromocytoma (HP:0002666)2.66292891
29Buphthalmos (HP:0000557)2.65316324
30Poor eye contact (HP:0000817)2.62597155
31Genetic anticipation (HP:0003743)2.61945878
32EEG with generalized epileptiform discharges (HP:0011198)2.58079617
33Cutaneous finger syndactyly (HP:0010554)2.50899595
34Preaxial foot polydactyly (HP:0001841)2.49096092
35Hemiplegia (HP:0002301)2.48939622
36Anterior segment dysgenesis (HP:0007700)2.48335717
37Ankle clonus (HP:0011448)2.45684833
38Impaired smooth pursuit (HP:0007772)2.45064766
39Protruding tongue (HP:0010808)2.43786811
40Dysdiadochokinesis (HP:0002075)2.40747775
41Abnormality of salivation (HP:0100755)2.37903051
42Overgrowth (HP:0001548)2.35648271
43Abnormal eating behavior (HP:0100738)2.35178663
44Hypsarrhythmia (HP:0002521)2.35020265
45Dysmetric saccades (HP:0000641)2.34742210
46Abnormal social behavior (HP:0012433)2.33422393
47Impaired social interactions (HP:0000735)2.33422393
48Urinary bladder sphincter dysfunction (HP:0002839)2.31554495
49Postural instability (HP:0002172)2.31091821
50Impaired vibration sensation in the lower limbs (HP:0002166)2.30771622
51Midline defect of the nose (HP:0004122)2.30701046
52Tented upper lip vermilion (HP:0010804)2.29834444
53Neoplasm of the adrenal cortex (HP:0100641)2.29693386
54Short chin (HP:0000331)2.28668208
55Atrial fibrillation (HP:0005110)2.24278537
56Hemiparesis (HP:0001269)2.23302523
57Broad metatarsal (HP:0001783)2.21347223
58Syncope (HP:0001279)2.17488420
59Dysmetria (HP:0001310)2.16852310
60Aplasia involving bones of the extremities (HP:0009825)2.14217870
61Aplasia involving bones of the upper limbs (HP:0009823)2.14217870
62Aplasia of the phalanges of the hand (HP:0009802)2.14217870
63Depression (HP:0000716)2.12749258
64Supranuclear gaze palsy (HP:0000605)2.12641262
65Exotropia (HP:0000577)2.12292559
66Prolonged QT interval (HP:0001657)2.11916199
67Insidious onset (HP:0003587)2.11201881
68Termporal pattern (HP:0011008)2.11201881
69Hypoplastic ischia (HP:0003175)2.10752037
70Cutaneous syndactyly (HP:0012725)2.10508117
71Aqueductal stenosis (HP:0002410)2.08722210
72Fair hair (HP:0002286)2.06460413
73Anxiety (HP:0000739)2.06371747
74Stereotypic behavior (HP:0000733)2.06163251
75Primary atrial arrhythmia (HP:0001692)2.05581415
76Blue irides (HP:0000635)2.01809767
77Open mouth (HP:0000194)2.00920452
78Supraventricular arrhythmia (HP:0005115)2.00105098
79Abnormality of ocular smooth pursuit (HP:0000617)1.98737764
80Bradykinesia (HP:0002067)1.98079505
81Aplasia/Hypoplasia of the brainstem (HP:0007362)1.97233025
82Hypoplasia of the brainstem (HP:0002365)1.97233025
83Neuroendocrine neoplasm (HP:0100634)1.95614281
84Short 4th metacarpal (HP:0010044)1.94797015
85Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.94797015
86Sudden death (HP:0001699)1.94778534
87Abnormality of binocular vision (HP:0011514)1.94718947
88Diplopia (HP:0000651)1.94718947
89Progressive inability to walk (HP:0002505)1.93855854
90Intellectual disability, profound (HP:0002187)1.93585500
91Bundle branch block (HP:0011710)1.91586772
92Supraventricular tachycardia (HP:0004755)1.89446657
93Alacrima (HP:0000522)1.88879921
94Hypoventilation (HP:0002791)1.88160127
95Thickened helices (HP:0000391)1.87696194
96Generalized hypopigmentation of hair (HP:0011358)1.86864194
97Prominent supraorbital ridges (HP:0000336)1.86463628
98Short hallux (HP:0010109)1.82905702
99Cerebral inclusion bodies (HP:0100314)1.82880890
100Incomplete penetrance (HP:0003829)1.81005102
101Fetal akinesia sequence (HP:0001989)1.80215977
102Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.79726851
103Hypoplasia of the iris (HP:0007676)1.79507320
104Impaired vibratory sensation (HP:0002495)1.78994021
105Neoplasm of the heart (HP:0100544)1.78988243
106Ulnar claw (HP:0001178)1.78087814
107Lissencephaly (HP:0001339)1.74028704
108Abnormality of the pubic bones (HP:0003172)1.73462362
109Torticollis (HP:0000473)1.72658484
110Autism (HP:0000717)1.71975793
111Limited hip movement (HP:0008800)1.71731146
112Abnormality of the calf musculature (HP:0001430)1.71549511
113Megalencephaly (HP:0001355)1.70856807
114Papilledema (HP:0001085)1.70029915
115Mutism (HP:0002300)1.70026707
116Genital tract atresia (HP:0001827)1.69544609
117Papillary thyroid carcinoma (HP:0002895)1.68817800
118Spastic gait (HP:0002064)1.67664139
119Neurofibrillary tangles (HP:0002185)1.67255696
120Gait imbalance (HP:0002141)1.67213392
121Coronal craniosynostosis (HP:0004440)1.66975770
122Hyporeflexia of lower limbs (HP:0002600)1.66272086
123Abnormality of the corticospinal tract (HP:0002492)1.66123474
124Aplasia/Hypoplasia of the tibia (HP:0005772)1.65778530
125Retinal atrophy (HP:0001105)1.65644939
126Polyphagia (HP:0002591)1.64922192
127Abnormality of the phalanges of the 2nd finger (HP:0009541)1.64847954
128Specific learning disability (HP:0001328)1.64716729
129Lower limb muscle weakness (HP:0007340)1.64063875
130Agitation (HP:0000713)1.63378092
131Abnormality of the astrocytes (HP:0100707)1.63091199
132Astrocytoma (HP:0009592)1.63091199
133Inappropriate behavior (HP:0000719)1.62636851
134Aplasia/Hypoplasia of the hallux (HP:0008362)1.62542178
135Aortic aneurysm (HP:0004942)1.62417603
136Long nose (HP:0003189)1.62359242
137Urinary urgency (HP:0000012)1.61906812
138Vaginal atresia (HP:0000148)1.61809296
139Status epilepticus (HP:0002133)1.61288474
140Limb dystonia (HP:0002451)1.60871558
141Widely spaced teeth (HP:0000687)1.60781733
142Macroglossia (HP:0000158)1.60728815
143Shallow orbits (HP:0000586)1.59218605
144Deeply set eye (HP:0000490)1.57609085

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.74269738
2EPHA44.35449949
3MARK13.51443239
4CASK3.41790896
5MAP3K92.80686976
6MAP3K42.80644153
7MINK12.57801495
8MAP2K72.32600484
9DAPK22.17452959
10NTRK22.15503120
11PNCK2.07316613
12KSR12.02336011
13PLK22.01166000
14EPHA31.83568064
15PAK61.79496112
16PINK11.70245459
17MAPK151.66033333
18DAPK11.64147488
19CAMKK21.60665538
20OBSCN1.60268498
21RIPK41.57539244
22MAP2K41.56771365
23GRK51.52898258
24MAP3K121.42744319
25NTRK11.42185428
26CAMKK11.40583120
27MAPK131.38540038
28CDK51.32558791
29LATS21.30114607
30FGFR21.26302388
31CAMK1G1.26029059
32KSR21.25157456
33FES1.20090153
34PRKCG1.20053208
35CSNK1G21.19407358
36TYRO31.14266833
37PAK31.13564004
38TNIK1.08119845
39CDK191.07655146
40CAMK2A1.07329200
41MAPK121.05828475
42MAP3K101.04926482
43STK391.01912518
44PRPF4B0.99570607
45SIK30.98978873
46BCR0.98090474
47FER0.97048271
48ARAF0.95545204
49STK38L0.94506863
50PTK2B0.94427260
51SIK20.92728558
52SGK20.92229277
53AKT30.92170112
54TIE10.91836463
55CAMK2B0.91684673
56LATS10.91582047
57CAMK10.91402357
58SGK4940.87820379
59SGK2230.87820379
60CCNB10.87151296
61WNK30.83912157
62FRK0.82278033
63RAF10.77497214
64PKN10.76711480
65CDK180.76628291
66PDGFRB0.74721001
67BMPR20.74574821
68ROCK10.74019590
69SGK10.72551467
70CDK30.71616529
71BMPR1B0.71405661
72OXSR10.70000654
73CDK140.69813599
74PRKCE0.69532776
75PHKG20.69328092
76PHKG10.69328092
77CDK150.68956394
78PIK3CA0.68533393
79CSNK1A1L0.68078999
80MARK20.67606758
81PRKD30.67195915
82STK380.66878676
83UHMK10.65958621
84STK110.65199871
85CSNK1G30.61984531
86SGK30.59487106
87FGFR10.59484435
88MAP3K70.57951344
89DYRK1A0.57618023
90CDK11A0.57598164
91RET0.54828377
92RIPK10.53495277
93CAMK40.52823410
94MAPK40.52383732
95PRKCZ0.50391573
96DYRK20.48680348
97CAMK2G0.48672462
98PRKCH0.48514392
99PDGFRA0.48222339
100MAPK100.48001028
101MYLK0.47586847
102MAP2K10.46778786
103NEK60.46751751
104ROCK20.46670072
105MAP3K20.46349142
106MAPK70.45904188
107ERBB30.45162585
108CAMK2D0.45068179
109FGR0.44749414
110ADRBK10.44314514
111NLK0.43653053
112EPHB20.43362585
113DDR20.43076683
114RPS6KA30.42788071
115WNK10.42470883
116PRKACA0.41629349
117CSNK1G10.39675904
118CSNK1D0.39193528
119PAK20.38920942
120MAP3K60.37959388
121GRK70.37546013
122PRKG10.37207404
123TAOK10.37095533
124DMPK0.36228269
125BRAF0.36019931
126MAP3K130.35734052
127FYN0.35678171
128PRKACB0.35596722
129ILK0.35461112

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.19190053
2* Circadian entrainment_Homo sapiens_hsa047132.81473655
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.77148455
4Synaptic vesicle cycle_Homo sapiens_hsa047212.76173243
5Long-term potentiation_Homo sapiens_hsa047202.69138908
6Amphetamine addiction_Homo sapiens_hsa050312.66876491
7Glutamatergic synapse_Homo sapiens_hsa047242.65226491
8GABAergic synapse_Homo sapiens_hsa047272.60361136
9Morphine addiction_Homo sapiens_hsa050322.53079994
10Olfactory transduction_Homo sapiens_hsa047402.30932746
11* Salivary secretion_Homo sapiens_hsa049702.20285487
12Dopaminergic synapse_Homo sapiens_hsa047282.19759367
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.94113622
14Insulin secretion_Homo sapiens_hsa049111.91704881
15Cocaine addiction_Homo sapiens_hsa050301.88595690
16Taste transduction_Homo sapiens_hsa047421.85331740
17Serotonergic synapse_Homo sapiens_hsa047261.84701197
18* Renin secretion_Homo sapiens_hsa049241.83822467
19Cholinergic synapse_Homo sapiens_hsa047251.79933537
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.74558377
21* Long-term depression_Homo sapiens_hsa047301.71482320
22Calcium signaling pathway_Homo sapiens_hsa040201.67526150
23* Oxytocin signaling pathway_Homo sapiens_hsa049211.66002944
24Gastric acid secretion_Homo sapiens_hsa049711.64854952
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.57660485
26Axon guidance_Homo sapiens_hsa043601.50837704
27cAMP signaling pathway_Homo sapiens_hsa040241.42436810
28* Gap junction_Homo sapiens_hsa045401.40762637
29Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.35011686
30GnRH signaling pathway_Homo sapiens_hsa049121.29931047
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.26591188
32Collecting duct acid secretion_Homo sapiens_hsa049661.26175570
33Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.25816764
34Melanogenesis_Homo sapiens_hsa049161.23002862
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.21128998
36Estrogen signaling pathway_Homo sapiens_hsa049151.19667824
37Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.18112177
38ECM-receptor interaction_Homo sapiens_hsa045121.15629187
39* cGMP-PKG signaling pathway_Homo sapiens_hsa040221.11498290
40Phosphatidylinositol signaling system_Homo sapiens_hsa040701.10347289
41Glioma_Homo sapiens_hsa052141.08916402
42ErbB signaling pathway_Homo sapiens_hsa040121.06367827
43Dilated cardiomyopathy_Homo sapiens_hsa054141.02801858
44* Vascular smooth muscle contraction_Homo sapiens_hsa042700.99074909
45Type II diabetes mellitus_Homo sapiens_hsa049300.97642082
46Cardiac muscle contraction_Homo sapiens_hsa042600.90310762
47Protein digestion and absorption_Homo sapiens_hsa049740.88856687
48Vibrio cholerae infection_Homo sapiens_hsa051100.85640210
49Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.84768835
50Rap1 signaling pathway_Homo sapiens_hsa040150.82750434
51MAPK signaling pathway_Homo sapiens_hsa040100.81857565
52Ras signaling pathway_Homo sapiens_hsa040140.81412376
53Oocyte meiosis_Homo sapiens_hsa041140.81195109
54Choline metabolism in cancer_Homo sapiens_hsa052310.80634735
55Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.79255387
56Phototransduction_Homo sapiens_hsa047440.78715457
57Dorso-ventral axis formation_Homo sapiens_hsa043200.78207083
58Wnt signaling pathway_Homo sapiens_hsa043100.77991199
59Phospholipase D signaling pathway_Homo sapiens_hsa040720.77470320
60Thyroid hormone synthesis_Homo sapiens_hsa049180.76193700
61Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.76045065
62Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.74702268
63Tight junction_Homo sapiens_hsa045300.73895364
64Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.72763001
65Pancreatic secretion_Homo sapiens_hsa049720.71225839
66Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.65274190
67Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.64554418
68Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.64236043
69Carbohydrate digestion and absorption_Homo sapiens_hsa049730.63195963
70Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.62677822
71Glucagon signaling pathway_Homo sapiens_hsa049220.61763046
72ABC transporters_Homo sapiens_hsa020100.61596238
73Neurotrophin signaling pathway_Homo sapiens_hsa047220.60658355
74Hedgehog signaling pathway_Homo sapiens_hsa043400.57647220
75Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57143823
76Endometrial cancer_Homo sapiens_hsa052130.56540509
77TGF-beta signaling pathway_Homo sapiens_hsa043500.56314083
78Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.56270059
79Circadian rhythm_Homo sapiens_hsa047100.56143644
80Alcoholism_Homo sapiens_hsa050340.55384466
81AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.54274045
82Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.53664462
83Adherens junction_Homo sapiens_hsa045200.52954546
84Melanoma_Homo sapiens_hsa052180.52944530
85VEGF signaling pathway_Homo sapiens_hsa043700.51900754
86Colorectal cancer_Homo sapiens_hsa052100.48328805
87Amoebiasis_Homo sapiens_hsa051460.48140453
88Inositol phosphate metabolism_Homo sapiens_hsa005620.47855543
89mTOR signaling pathway_Homo sapiens_hsa041500.46984100
90African trypanosomiasis_Homo sapiens_hsa051430.46275512
91Mineral absorption_Homo sapiens_hsa049780.43963302
92Histidine metabolism_Homo sapiens_hsa003400.43165825
93Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.42836921
94Prolactin signaling pathway_Homo sapiens_hsa049170.42791196
95Regulation of actin cytoskeleton_Homo sapiens_hsa048100.42235124
96Renal cell carcinoma_Homo sapiens_hsa052110.42025927
97Basal cell carcinoma_Homo sapiens_hsa052170.41519350
98Alzheimers disease_Homo sapiens_hsa050100.40226365
99Prion diseases_Homo sapiens_hsa050200.40010194
100Fatty acid biosynthesis_Homo sapiens_hsa000610.39770805
101Hippo signaling pathway_Homo sapiens_hsa043900.39061289
102Ovarian steroidogenesis_Homo sapiens_hsa049130.38522222
103Sphingolipid signaling pathway_Homo sapiens_hsa040710.37145498
104FoxO signaling pathway_Homo sapiens_hsa040680.36630476
105PI3K-Akt signaling pathway_Homo sapiens_hsa041510.36396107
106Longevity regulating pathway - mammal_Homo sapiens_hsa042110.35908685
107Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.35623794
108Bile secretion_Homo sapiens_hsa049760.34709881
109Endocytosis_Homo sapiens_hsa041440.30163105
110Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.30107496
111Insulin signaling pathway_Homo sapiens_hsa049100.30098025
112Non-small cell lung cancer_Homo sapiens_hsa052230.29974347
113Focal adhesion_Homo sapiens_hsa045100.25467788
114Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.23840309
115Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.23312137
116Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.22290437

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