C20ORF194

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





Description: This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1postsynaptic membrane organization (GO:0001941)4.21543991
2pyrimidine nucleobase catabolic process (GO:0006208)4.01720168
3presynaptic membrane organization (GO:0097090)3.65437279
4membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.63738365
5presynaptic membrane assembly (GO:0097105)3.56526060
6neurotransmitter-gated ion channel clustering (GO:0072578)3.54175594
7auditory behavior (GO:0031223)3.53774481
8regulation of synapse structural plasticity (GO:0051823)3.48546684
9neuron recognition (GO:0008038)3.44917932
10neuron cell-cell adhesion (GO:0007158)3.40009011
11axonal fasciculation (GO:0007413)3.39834538
12synaptic vesicle maturation (GO:0016188)3.37007692
13regulation of short-term neuronal synaptic plasticity (GO:0048172)3.34563848
14vocalization behavior (GO:0071625)3.30276285
15neuronal action potential propagation (GO:0019227)3.28999230
16synaptic vesicle docking involved in exocytosis (GO:0016081)3.26532872
17ionotropic glutamate receptor signaling pathway (GO:0035235)3.26112278
18cell migration in hindbrain (GO:0021535)3.22615185
19regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.14857897
20gamma-aminobutyric acid transport (GO:0015812)3.13872415
21establishment of mitochondrion localization (GO:0051654)3.12580584
22protein localization to synapse (GO:0035418)3.10275335
23response to auditory stimulus (GO:0010996)3.06316427
24nucleobase catabolic process (GO:0046113)3.06287418
25positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.00680695
26neuronal ion channel clustering (GO:0045161)3.00597095
27glutamate secretion (GO:0014047)2.95168059
28dendrite morphogenesis (GO:0048813)2.94005556
29axon extension (GO:0048675)2.93015695
30locomotory exploration behavior (GO:0035641)2.91921183
31synaptic vesicle exocytosis (GO:0016079)2.87582640
32regulation of synaptic vesicle exocytosis (GO:2000300)2.85817978
33sarcoplasmic reticulum calcium ion transport (GO:0070296)2.85583707
34synaptic transmission, glutamatergic (GO:0035249)2.83169163
35glutamate receptor signaling pathway (GO:0007215)2.80373236
36regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.80292812
37membrane depolarization during action potential (GO:0086010)2.79804469
38cerebellar granule cell differentiation (GO:0021707)2.78811441
39L-amino acid import (GO:0043092)2.76746059
40regulation of glutamate receptor signaling pathway (GO:1900449)2.72779619
41mechanosensory behavior (GO:0007638)2.69901399
42regulation of synaptic vesicle transport (GO:1902803)2.68448861
43dendritic spine morphogenesis (GO:0060997)2.68105143
44establishment of nucleus localization (GO:0040023)2.65703170
45negative regulation of cytosolic calcium ion concentration (GO:0051481)2.64688195
46cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.62507806
47regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.62301439
48neuromuscular synaptic transmission (GO:0007274)2.61862433
49positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.59125747
50axon ensheathment in central nervous system (GO:0032291)2.59028724
51central nervous system myelination (GO:0022010)2.59028724
52positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.58729360
53establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.54095232
54mitochondrion transport along microtubule (GO:0047497)2.54095232
55central nervous system projection neuron axonogenesis (GO:0021952)2.53287956
56neuron projection extension (GO:1990138)2.52617921
57regulation of dendritic spine morphogenesis (GO:0061001)2.51042679
58positive regulation of synapse assembly (GO:0051965)2.50226939
59negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.50094126
60neuron-neuron synaptic transmission (GO:0007270)2.48355719
61cellular potassium ion homeostasis (GO:0030007)2.47516845
62regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.47184685
63adult walking behavior (GO:0007628)2.45480218
64neurotransmitter secretion (GO:0007269)2.45136919
65exploration behavior (GO:0035640)2.45077432
66positive regulation of dendritic spine development (GO:0060999)2.44191213
67positive regulation of dendritic spine morphogenesis (GO:0061003)2.43301483
68synapse assembly (GO:0007416)2.43161262
69regulation of axon guidance (GO:1902667)2.42840169
70regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.42158895
71negative regulation of axonogenesis (GO:0050771)2.41518217
72regulation of synapse assembly (GO:0051963)2.40455605
73transmission of nerve impulse (GO:0019226)2.40341522
74positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.39448560
75cerebellar Purkinje cell differentiation (GO:0021702)2.39365747
76limb bud formation (GO:0060174)2.39019658
77positive regulation of synapse maturation (GO:0090129)2.37811306
78amino acid import (GO:0043090)2.37768048
79cardiac myofibril assembly (GO:0055003)2.37155952
80C4-dicarboxylate transport (GO:0015740)2.36809127
81regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.36343814
82regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.36047601
83regulation of synaptic transmission, glutamatergic (GO:0051966)2.35927666
84sodium ion export (GO:0071436)2.34446432
85layer formation in cerebral cortex (GO:0021819)2.34396758
86axon extension involved in axon guidance (GO:0048846)2.33981306
87neuron projection extension involved in neuron projection guidance (GO:1902284)2.33981306
88urinary tract smooth muscle contraction (GO:0014848)2.33960345
89regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.31976220
90central nervous system neuron axonogenesis (GO:0021955)2.31001105
91regulation of synapse organization (GO:0050807)2.30921797
92regulation of neuronal synaptic plasticity (GO:0048168)2.30484807
93negative regulation of synaptic transmission, GABAergic (GO:0032229)2.30463197
94myofibril assembly (GO:0030239)2.30376205
95cell communication by electrical coupling (GO:0010644)2.30229219
96startle response (GO:0001964)2.30223690
97regulation of axon extension involved in axon guidance (GO:0048841)2.28038808
98synapse organization (GO:0050808)2.27673230
99regulation of synapse maturation (GO:0090128)2.26920569
100organelle transport along microtubule (GO:0072384)2.24551817

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.15133269
2GBX2_23144817_ChIP-Seq_PC3_Human3.02390106
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.19634098
4GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.07111233
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.05314895
6NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.04559971
7DROSHA_22980978_ChIP-Seq_HELA_Human1.98897108
8EZH2_27304074_Chip-Seq_ESCs_Mouse1.97120960
9SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.94904519
10ZFP57_27257070_Chip-Seq_ESCs_Mouse1.91760328
11REST_21632747_ChIP-Seq_MESCs_Mouse1.89579907
12EZH2_18974828_ChIP-Seq_MESCs_Mouse1.89139552
13RNF2_18974828_ChIP-Seq_MESCs_Mouse1.89139552
14EED_16625203_ChIP-ChIP_MESCs_Mouse1.88124315
15CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.83671039
16ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.83070184
17SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.81590011
18SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.81010858
19SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.80974021
20SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.78553355
21JARID2_20075857_ChIP-Seq_MESCs_Mouse1.78535243
22RNF2_27304074_Chip-Seq_ESCs_Mouse1.76556086
23SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.76549184
24AR_21572438_ChIP-Seq_LNCaP_Human1.75255989
25MTF2_20144788_ChIP-Seq_MESCs_Mouse1.74722451
26PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.69814082
27EZH2_27294783_Chip-Seq_ESCs_Mouse1.69721520
28CDX2_19796622_ChIP-Seq_MESCs_Mouse1.68566783
29CBX2_27304074_Chip-Seq_ESCs_Mouse1.63666231
30SUZ12_27294783_Chip-Seq_ESCs_Mouse1.62908151
31TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.59013166
32* SMAD4_21799915_ChIP-Seq_A2780_Human1.58770075
33CTBP2_25329375_ChIP-Seq_LNCAP_Human1.54074429
34TAF15_26573619_Chip-Seq_HEK293_Human1.53914267
35SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.47658209
36PIAS1_25552417_ChIP-Seq_VCAP_Human1.45841940
37REST_18959480_ChIP-ChIP_MESCs_Mouse1.44824257
38GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.44477445
39EP300_21415370_ChIP-Seq_HL-1_Mouse1.39601223
40CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.38793462
41AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.36108061
42RNF2_27304074_Chip-Seq_NSC_Mouse1.35679076
43SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35208935
44SMAD3_21741376_ChIP-Seq_EPCs_Human1.32371232
45POU3F2_20337985_ChIP-ChIP_501MEL_Human1.31632534
46IGF1R_20145208_ChIP-Seq_DFB_Human1.29415555
47P300_19829295_ChIP-Seq_ESCs_Human1.29070172
48STAT3_23295773_ChIP-Seq_U87_Human1.28692664
49TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.28532136
50SOX2_21211035_ChIP-Seq_LN229_Gbm1.28207478
51RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.28027246
52EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.27308300
53ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.26148425
54CTBP1_25329375_ChIP-Seq_LNCAP_Human1.26059415
55OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25562433
56SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.24174384
57WT1_25993318_ChIP-Seq_PODOCYTE_Human1.23906886
58RARB_27405468_Chip-Seq_BRAIN_Mouse1.23567867
59TOP2B_26459242_ChIP-Seq_MCF-7_Human1.23381959
60ZNF217_24962896_ChIP-Seq_MCF-7_Human1.22450319
61POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.22101719
62TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22101719
63TP53_16413492_ChIP-PET_HCT116_Human1.21165737
64RBPJ_22232070_ChIP-Seq_NCS_Mouse1.19327226
65AR_25329375_ChIP-Seq_VCAP_Human1.17902631
66TCF4_23295773_ChIP-Seq_U87_Human1.17346973
67MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.17304706
68PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.16670469
69NR3C1_23031785_ChIP-Seq_PC12_Mouse1.14406810
70AR_19668381_ChIP-Seq_PC3_Human1.13617986
71RING1B_27294783_Chip-Seq_ESCs_Mouse1.12975483
72NR3C1_21868756_ChIP-Seq_MCF10A_Human1.10971068
73MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.10706910
74UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.09733909
75AHR_22903824_ChIP-Seq_MCF-7_Human1.08790906
76YAP1_20516196_ChIP-Seq_MESCs_Mouse1.08606732
77NRF2_20460467_ChIP-Seq_MEFs_Mouse1.08387936
78NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.08387936
79TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.06843023
80TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.06198026
81TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.05385243
82PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.05333464
83CTNNB1_20460455_ChIP-Seq_HCT116_Human1.04217304
84ARNT_22903824_ChIP-Seq_MCF-7_Human1.03792938
85SMAD_19615063_ChIP-ChIP_OVARY_Human1.03433311
86LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03415836
87MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.02648616
88KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.01262449
89CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01018567
90SMAD4_21741376_ChIP-Seq_HESCs_Human1.00923591
91NANOG_18555785_Chip-Seq_ESCs_Mouse0.99277722
92P53_22127205_ChIP-Seq_FIBROBLAST_Human0.99076703
93SMAD3_21741376_ChIP-Seq_HESCs_Human0.97929835
94STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.97874809
95* RUNX2_22187159_ChIP-Seq_PCA_Human0.97680221
96BMI1_23680149_ChIP-Seq_NPCS_Mouse0.97126887
97KDM2B_26808549_Chip-Seq_REH_Human0.95555193
98BCAT_22108803_ChIP-Seq_LS180_Human0.95045729
99RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.94808469
100RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.93792342

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity3.65030951
2MP0004270_analgesia3.24469090
3MP0003880_abnormal_central_pattern2.92097505
4MP0000569_abnormal_digit_pigmentation2.80559120
5MP0005423_abnormal_somatic_nervous2.62277465
6MP0003635_abnormal_synaptic_transmissio2.55486299
7MP0000778_abnormal_nervous_system2.36208111
8MP0001486_abnormal_startle_reflex2.24527184
9MP0002064_seizures2.15740494
10MP0002063_abnormal_learning/memory/cond2.11555050
11MP0000751_myopathy2.10879649
12MP0002734_abnormal_mechanical_nocicepti2.07428982
13MP0009745_abnormal_behavioral_response2.06834964
14MP0009046_muscle_twitch2.00393869
15MP0002272_abnormal_nervous_system1.99874628
16MP0003122_maternal_imprinting1.98115843
17MP0002822_catalepsy1.93715751
18MP0001984_abnormal_olfaction1.91516545
19MP0002572_abnormal_emotion/affect_behav1.87121069
20MP0002735_abnormal_chemical_nociception1.85158027
21MP0004885_abnormal_endolymph1.78984527
22MP0004145_abnormal_muscle_electrophysio1.75934769
23MP0001968_abnormal_touch/_nociception1.75579840
24MP0003646_muscle_fatigue1.75438381
25MP0000749_muscle_degeneration1.72842509
26MP0006276_abnormal_autonomic_nervous1.72554975
27MP0003329_amyloid_beta_deposits1.57002502
28MP0004130_abnormal_muscle_cell1.55015440
29MP0002067_abnormal_sensory_capabilities1.52927362
30MP0009780_abnormal_chondrocyte_physiolo1.52594429
31MP0000955_abnormal_spinal_cord1.46555498
32MP0003690_abnormal_glial_cell1.42671171
33MP0001970_abnormal_pain_threshold1.42138908
34MP0005386_behavior/neurological_phenoty1.40444996
35MP0004924_abnormal_behavior1.40444996
36MP0003879_abnormal_hair_cell1.39198057
37MP0003633_abnormal_nervous_system1.38532673
38MP0001299_abnormal_eye_distance/1.37910469
39MP0001529_abnormal_vocalization1.37044520
40MP0002638_abnormal_pupillary_reflex1.35075492
41MP0004142_abnormal_muscle_tone1.34215849
42MP0002882_abnormal_neuron_morphology1.32435767
43MP0002557_abnormal_social/conspecific_i1.31076859
44MP0001501_abnormal_sleep_pattern1.30627971
45MP0008569_lethality_at_weaning1.30506817
46MP0004811_abnormal_neuron_physiology1.30203821
47MP0002184_abnormal_innervation1.28522702
48MP0002733_abnormal_thermal_nociception1.28337042
49MP0002736_abnormal_nociception_after1.26460336
50MP0001440_abnormal_grooming_behavior1.25516996
51MP0003787_abnormal_imprinting1.19881534
52MP0005646_abnormal_pituitary_gland1.16507637
53MP0002653_abnormal_ependyma_morphology1.15810121
54MP0003136_yellow_coat_color1.14891006
55MP0005409_darkened_coat_color1.12505838
56MP0002837_dystrophic_cardiac_calcinosis1.12053948
57MP0004742_abnormal_vestibular_system1.11814045
58MP0001958_emphysema1.11585800
59MP0003631_nervous_system_phenotype1.10022593
60MP0002066_abnormal_motor_capabilities/c1.07982601
61MP0002909_abnormal_adrenal_gland1.07974589
62MP0005167_abnormal_blood-brain_barrier1.06081182
63MP0004036_abnormal_muscle_relaxation1.05892337
64MP0000920_abnormal_myelination1.04791089
65MP0005620_abnormal_muscle_contractility1.04008910
66MP0004215_abnormal_myocardial_fiber1.02063730
67MP0002152_abnormal_brain_morphology1.00843091
68MP0003634_abnormal_glial_cell1.00612856
69MP0002106_abnormal_muscle_physiology1.00490993
70MP0005551_abnormal_eye_electrophysiolog0.99979180
71MP0005257_abnormal_intraocular_pressure0.99591979
72MP0003121_genomic_imprinting0.97931779
73MP0004084_abnormal_cardiac_muscle0.97836662
74MP0000747_muscle_weakness0.97618662
75MP0001502_abnormal_circadian_rhythm0.91428429
76MP0000013_abnormal_adipose_tissue0.91324094
77MP0003890_abnormal_embryonic-extraembry0.90019225
78MP0005369_muscle_phenotype0.88416802
79MP0005499_abnormal_olfactory_system0.87897806
80MP0005394_taste/olfaction_phenotype0.87897806
81MP0002752_abnormal_somatic_nervous0.87524781
82MP0002229_neurodegeneration0.87011412
83MP0003632_abnormal_nervous_system0.86378181
84MP0010368_abnormal_lymphatic_system0.85358891
85MP0004085_abnormal_heartbeat0.85343796
86MP0003137_abnormal_impulse_conducting0.85244610
87MP0001963_abnormal_hearing_physiology0.83896714
88MP0000026_abnormal_inner_ear0.83890816
89MP0002332_abnormal_exercise_endurance0.82211569
90MP0004087_abnormal_muscle_fiber0.82146998
91MP0010386_abnormal_urinary_bladder0.81063276
92MP0000604_amyloidosis0.80149877
93MP0005171_absent_coat_pigmentation0.79482785
94MP0000534_abnormal_ureter_morphology0.78805013
95MP0004484_altered_response_of0.77090676
96MP0000566_synostosis0.75865199
97MP0000759_abnormal_skeletal_muscle0.75426239
98MP0002972_abnormal_cardiac_muscle0.70949725
99MP0002108_abnormal_muscle_morphology0.69923029
100MP0001177_atelectasis0.69205359

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)4.22513687
2Focal seizures (HP:0007359)3.89167517
3Atonic seizures (HP:0010819)3.40470765
4Myokymia (HP:0002411)3.32160808
5Hyperventilation (HP:0002883)3.24150493
6Febrile seizures (HP:0002373)3.22048754
7Action tremor (HP:0002345)3.21859634
8Neurofibrillary tangles (HP:0002185)3.17215035
9Type 1 muscle fiber predominance (HP:0003803)2.99662497
10Progressive cerebellar ataxia (HP:0002073)2.97516322
11Muscle fiber inclusion bodies (HP:0100299)2.92428503
12Epileptic encephalopathy (HP:0200134)2.90558634
13Frequent falls (HP:0002359)2.89373208
14Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.78942387
15Dialeptic seizures (HP:0011146)2.74182509
16Nemaline bodies (HP:0003798)2.71020548
17Polyphagia (HP:0002591)2.69503540
18Drooling (HP:0002307)2.61509303
19Muscle fiber splitting (HP:0003555)2.52427113
20Limb dystonia (HP:0002451)2.49729209
21Calf muscle hypertrophy (HP:0008981)2.44282923
22Generalized tonic-clonic seizures (HP:0002069)2.43636736
23Abnormal eating behavior (HP:0100738)2.42691570
24Urinary bladder sphincter dysfunction (HP:0002839)2.40807286
25Absence seizures (HP:0002121)2.38184594
26Absent speech (HP:0001344)2.38037335
27Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.37175609
28Muscle hypertrophy of the lower extremities (HP:0008968)2.36639635
29Supranuclear gaze palsy (HP:0000605)2.35853049
30Excessive salivation (HP:0003781)2.34247190
31Abnormality of the calf musculature (HP:0001430)2.33089573
32Fetal akinesia sequence (HP:0001989)2.26224452
33Cerebral inclusion bodies (HP:0100314)2.25920870
34Ankle clonus (HP:0011448)2.22745035
35Hemiparesis (HP:0001269)2.22511688
36Broad-based gait (HP:0002136)2.22365764
37Exercise-induced muscle cramps (HP:0003710)2.21886667
38Gait imbalance (HP:0002141)2.19460842
39Abnormality of the corticospinal tract (HP:0002492)2.18286818
40Bundle branch block (HP:0011710)2.15890467
41Exercise-induced myalgia (HP:0003738)2.14178645
42Difficulty running (HP:0009046)2.13490774
43Rimmed vacuoles (HP:0003805)2.10998461
44Lower limb muscle weakness (HP:0007340)2.10866816
45Urinary urgency (HP:0000012)2.10780668
46Amyotrophic lateral sclerosis (HP:0007354)2.09546306
47Spastic gait (HP:0002064)2.04753816
48Epileptiform EEG discharges (HP:0011182)2.03902811
49Ulnar claw (HP:0001178)2.02742238
50Truncal ataxia (HP:0002078)1.99209969
51Hemiplegia (HP:0002301)1.98766914
52Hepatoblastoma (HP:0002884)1.97524358
53Impaired vibration sensation in the lower limbs (HP:0002166)1.97295923
54Sudden death (HP:0001699)1.96265352
55Mutism (HP:0002300)1.95619788
56EEG with generalized epileptiform discharges (HP:0011198)1.94606384
57Distal arthrogryposis (HP:0005684)1.94003938
58Hyporeflexia of lower limbs (HP:0002600)1.93832501
59Abnormality of the lower motor neuron (HP:0002366)1.91503764
60Abnormality of binocular vision (HP:0011514)1.87835306
61Diplopia (HP:0000651)1.87835306
62Vitreoretinal degeneration (HP:0000655)1.87117693
63Postural instability (HP:0002172)1.87013810
64Degeneration of the lateral corticospinal tracts (HP:0002314)1.86796832
65Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.86796832
66Hypsarrhythmia (HP:0002521)1.86236611
67Asymmetric septal hypertrophy (HP:0001670)1.86168863
68Limited hip movement (HP:0008800)1.85284283
69Peripheral hypomyelination (HP:0007182)1.85147368
70Neoplasm of the heart (HP:0100544)1.83415082
71Atrial fibrillation (HP:0005110)1.81980107
72Dysdiadochokinesis (HP:0002075)1.81435983
73Syncope (HP:0001279)1.80688675
74Steppage gait (HP:0003376)1.77606204
75Alacrima (HP:0000522)1.76311349
76Genetic anticipation (HP:0003743)1.76255410
77Prolonged QT interval (HP:0001657)1.72800508
78Primary atrial arrhythmia (HP:0001692)1.72612698
79Status epilepticus (HP:0002133)1.71100527
80Megalencephaly (HP:0001355)1.70522480
81Inappropriate behavior (HP:0000719)1.68618820
82Myotonia (HP:0002486)1.67995787
83Gaze-evoked nystagmus (HP:0000640)1.66983574
84Medial flaring of the eyebrow (HP:0010747)1.65885092
85Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.65606649
86Left ventricular hypertrophy (HP:0001712)1.65546655
87EMG: myopathic abnormalities (HP:0003458)1.65470187
88Hypoplasia of the corpus callosum (HP:0002079)1.64001010
89Torticollis (HP:0000473)1.63942581
90Abnormality of the foot musculature (HP:0001436)1.63309961
91Abnormality of the ischium (HP:0003174)1.63005505
92Overgrowth (HP:0001548)1.62961231
93Akinesia (HP:0002304)1.62607179
94Hypoventilation (HP:0002791)1.60910871
95Hammertoe (HP:0001765)1.60734778
96EMG: neuropathic changes (HP:0003445)1.60314236
97Pheochromocytoma (HP:0002666)1.59858181
98Supraventricular tachycardia (HP:0004755)1.57620494
99Hypoplasia of the brainstem (HP:0002365)1.56851175
100Aplasia/Hypoplasia of the brainstem (HP:0007362)1.56851175

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK15.13475073
2CASK3.86242260
3PNCK2.74401441
4NTRK32.63755691
5OBSCN2.51252485
6MAPK132.37911429
7PINK12.37500276
8EPHA42.20585691
9PHKG12.12114984
10PHKG22.12114984
11NTRK22.01960846
12MAP3K41.69114275
13MAPK151.53765725
14CAMK1G1.52986393
15TYRO31.51366890
16WNK31.39482424
17PAK61.36769455
18TNIK1.35052596
19DAPK21.34841285
20DDR21.27478226
21UHMK11.26434173
22SGK4941.25809378
23SGK2231.25809378
24PRKD31.25089506
25SGK21.23503798
26MAP2K41.18795451
27NTRK11.17012383
28LATS21.15862579
29MINK11.12544799
30SIK21.10802116
31CDK51.09962991
32EPHA31.04342663
33DYRK1A1.04057806
34PDGFRA1.01217717
35FRK0.98960629
36STK38L0.98655505
37MAP2K70.97810237
38LATS10.96972971
39PKN10.96930948
40EPHB20.96826568
41CAMK10.94249347
42MAP3K90.94188553
43PAK30.93591397
44KSR10.93253735
45PRKCG0.93153771
46TTN0.93064325
47PLK20.92846721
48DYRK20.91623753
49PTK2B0.91499644
50MARK20.89275834
51MAP3K70.88422300
52CAMK2A0.84963359
53RIPK10.84414802
54SGK30.84286353
55STK380.83682673
56MAPK120.80902489
57CAMK2B0.78652509
58KSR20.76610040
59SGK10.76375137
60MET0.75893074
61CDK190.75614119
62PDGFRB0.75589778
63RET0.72131521
64STK110.69725035
65BCR0.68819000
66ROCK10.67834393
67ADRBK20.66784524
68DYRK1B0.66780913
69CSNK1G20.65971058
70CAMK1D0.63654574
71TIE10.61730941
72PRKAA10.61600779
73MAP3K60.61371867
74CAMKK10.61142031
75GRK70.60847724
76FGFR20.60235232
77PRKCZ0.59737146
78ERBB30.59577917
79CAMK40.59432164
80PRKG10.58867712
81PRKCE0.58445065
82AKT30.57903463
83MAP4K20.57777202
84WNK10.55298612
85DMPK0.53142822
86PRKAA20.52252223
87RPS6KA20.49728490
88CAMKK20.49567277
89BMPR1B0.48987849
90LIMK10.48664649
91CSNK1A1L0.47875598
92MOS0.46673379
93CAMK2G0.46628275
94ERBB20.46142057
95RPS6KA30.45211545
96ROCK20.45008978
97MAPK100.44719031
98PRKD10.44702100
99MAP3K20.42791266
100CDK150.41078414

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050332.95724201
2Glutamatergic synapse_Homo sapiens_hsa047242.11481692
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.10836282
4GABAergic synapse_Homo sapiens_hsa047272.06116099
5Circadian entrainment_Homo sapiens_hsa047132.05682008
6Dilated cardiomyopathy_Homo sapiens_hsa054141.86411542
7Morphine addiction_Homo sapiens_hsa050321.84723826
8Synaptic vesicle cycle_Homo sapiens_hsa047211.78612439
9Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.73521986
10Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.72640415
11Insulin secretion_Homo sapiens_hsa049111.68860090
12Cocaine addiction_Homo sapiens_hsa050301.67760254
13Dopaminergic synapse_Homo sapiens_hsa047281.62881690
14Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.62480619
15Axon guidance_Homo sapiens_hsa043601.61134912
16Amphetamine addiction_Homo sapiens_hsa050311.57215702
17Long-term potentiation_Homo sapiens_hsa047201.51076866
18Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.49444399
19Oxytocin signaling pathway_Homo sapiens_hsa049211.47769256
20Taste transduction_Homo sapiens_hsa047421.45442501
21Gastric acid secretion_Homo sapiens_hsa049711.43481745
22Dorso-ventral axis formation_Homo sapiens_hsa043201.42938133
23Calcium signaling pathway_Homo sapiens_hsa040201.37339266
24Aldosterone synthesis and secretion_Homo sapiens_hsa049251.37251328
25Cholinergic synapse_Homo sapiens_hsa047251.34963059
26Circadian rhythm_Homo sapiens_hsa047101.34840193
27Long-term depression_Homo sapiens_hsa047301.33943641
28Cardiac muscle contraction_Homo sapiens_hsa042601.32344860
29Renin secretion_Homo sapiens_hsa049241.28273794
30cAMP signaling pathway_Homo sapiens_hsa040241.28252602
31Salivary secretion_Homo sapiens_hsa049701.25146723
32Gap junction_Homo sapiens_hsa045401.23969692
33Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.18969926
34Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.16835145
35Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.13199856
36GnRH signaling pathway_Homo sapiens_hsa049121.11377371
37Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.08928542
38cGMP-PKG signaling pathway_Homo sapiens_hsa040221.07780709
39Serotonergic synapse_Homo sapiens_hsa047261.00470404
40Estrogen signaling pathway_Homo sapiens_hsa049150.97536414
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.96192917
42Phospholipase D signaling pathway_Homo sapiens_hsa040720.94319543
43ECM-receptor interaction_Homo sapiens_hsa045120.93180062
44Phototransduction_Homo sapiens_hsa047440.91598819
45Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.90245216
46Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.89734752
47Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.89140351
48Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.88337776
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.88153780
50ErbB signaling pathway_Homo sapiens_hsa040120.87712864
51Type II diabetes mellitus_Homo sapiens_hsa049300.87365125
52Melanogenesis_Homo sapiens_hsa049160.85045278
53MAPK signaling pathway_Homo sapiens_hsa040100.81861324
54Ovarian steroidogenesis_Homo sapiens_hsa049130.80081150
55Olfactory transduction_Homo sapiens_hsa047400.79092758
56Rap1 signaling pathway_Homo sapiens_hsa040150.78047233
57Focal adhesion_Homo sapiens_hsa045100.75408673
58Thyroid hormone signaling pathway_Homo sapiens_hsa049190.72788677
59Phosphatidylinositol signaling system_Homo sapiens_hsa040700.72212242
60Choline metabolism in cancer_Homo sapiens_hsa052310.71827393
61AMPK signaling pathway_Homo sapiens_hsa041520.71825209
62Ras signaling pathway_Homo sapiens_hsa040140.71110341
63Bile secretion_Homo sapiens_hsa049760.69550009
64Tight junction_Homo sapiens_hsa045300.68836166
65Neurotrophin signaling pathway_Homo sapiens_hsa047220.68733680
66ABC transporters_Homo sapiens_hsa020100.68193664
67Histidine metabolism_Homo sapiens_hsa003400.65649146
68Thyroid hormone synthesis_Homo sapiens_hsa049180.63107972
69Glucagon signaling pathway_Homo sapiens_hsa049220.62813882
70Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.62519968
71Hippo signaling pathway_Homo sapiens_hsa043900.61972975
72Glioma_Homo sapiens_hsa052140.61187252
73Fatty acid biosynthesis_Homo sapiens_hsa000610.60652109
74Glycosaminoglycan degradation_Homo sapiens_hsa005310.60507915
75Insulin signaling pathway_Homo sapiens_hsa049100.60414759
76PPAR signaling pathway_Homo sapiens_hsa033200.60096239
77Adherens junction_Homo sapiens_hsa045200.59018408
78VEGF signaling pathway_Homo sapiens_hsa043700.56495676
79Pancreatic secretion_Homo sapiens_hsa049720.55019667
80Longevity regulating pathway - mammal_Homo sapiens_hsa042110.54511319
81beta-Alanine metabolism_Homo sapiens_hsa004100.53510250
82Hedgehog signaling pathway_Homo sapiens_hsa043400.53503621
83Butanoate metabolism_Homo sapiens_hsa006500.51719463
84Amoebiasis_Homo sapiens_hsa051460.50926563
85Ether lipid metabolism_Homo sapiens_hsa005650.50495468
86Prion diseases_Homo sapiens_hsa050200.50443016
87AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.49953635
88Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.48353506
89Renal cell carcinoma_Homo sapiens_hsa052110.48164439
90mTOR signaling pathway_Homo sapiens_hsa041500.48161227
91Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.46304060
92Sphingolipid signaling pathway_Homo sapiens_hsa040710.45474644
93Complement and coagulation cascades_Homo sapiens_hsa046100.44485062
94Regulation of autophagy_Homo sapiens_hsa041400.44410168
95Collecting duct acid secretion_Homo sapiens_hsa049660.44365692
96Endometrial cancer_Homo sapiens_hsa052130.44232678
97Adipocytokine signaling pathway_Homo sapiens_hsa049200.43121950
98Steroid biosynthesis_Homo sapiens_hsa001000.42999967
99Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.42710731
100Inositol phosphate metabolism_Homo sapiens_hsa005620.42583192

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