KLHL1

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 KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1dopamine transport (GO:0015872)8.63092469
2alkaloid metabolic process (GO:0009820)7.10818514
3neuron cell-cell adhesion (GO:0007158)6.99101969
4catecholamine transport (GO:0051937)6.66667374
5response to insecticide (GO:0017085)6.37725615
6regulation of dopamine metabolic process (GO:0042053)6.34135491
7regulation of catecholamine metabolic process (GO:0042069)6.34135491
8catecholamine biosynthetic process (GO:0042423)6.07023961
9catechol-containing compound biosynthetic process (GO:0009713)6.07023961
10neurofilament cytoskeleton organization (GO:0060052)5.92967715
11short-term memory (GO:0007614)5.92567615
12prepulse inhibition (GO:0060134)5.68978596
13vocalization behavior (GO:0071625)5.58204062
14mating behavior (GO:0007617)5.55508911
15neurotransmitter biosynthetic process (GO:0042136)5.44563412
16pyrimidine nucleobase catabolic process (GO:0006208)5.35686927
17glutamate receptor signaling pathway (GO:0007215)5.18218239
18synaptic vesicle exocytosis (GO:0016079)5.05857390
19cerebellar granule cell differentiation (GO:0021707)4.96864971
20presynaptic membrane assembly (GO:0097105)4.94420896
21presynaptic membrane organization (GO:0097090)4.94032348
22positive regulation of synaptic transmission, dopaminergic (GO:0032226)4.84376090
23synaptic transmission, dopaminergic (GO:0001963)4.82179136
24synaptic transmission, glutamatergic (GO:0035249)4.71110404
25regulation of short-term neuronal synaptic plasticity (GO:0048172)4.64407449
26glutamate secretion (GO:0014047)4.60970133
27dopamine metabolic process (GO:0042417)4.60597385
28neurotransmitter catabolic process (GO:0042135)4.59762440
29regulation of dopamine secretion (GO:0014059)4.55502139
30positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.52914390
31gamma-aminobutyric acid signaling pathway (GO:0007214)4.52333160
32phenol-containing compound catabolic process (GO:0019336)4.47285693
33neurotransmitter metabolic process (GO:0042133)4.34523842
34cerebellar Purkinje cell differentiation (GO:0021702)4.34168516
35neuron recognition (GO:0008038)4.29779990
36negative regulation of neurotransmitter transport (GO:0051589)4.28632577
37response to cocaine (GO:0042220)4.26122550
38layer formation in cerebral cortex (GO:0021819)4.22078423
39negative regulation of microtubule polymerization (GO:0031115)4.19669879
40positive regulation of dendritic spine morphogenesis (GO:0061003)4.15996799
41transmission of nerve impulse (GO:0019226)4.11512759
42nucleobase catabolic process (GO:0046113)4.10015805
43retina layer formation (GO:0010842)4.09725936
44neurotransmitter secretion (GO:0007269)4.08409868
45monoamine transport (GO:0015844)4.08302813
46regulation of neurotransmitter levels (GO:0001505)4.07892652
47synaptic transmission, cholinergic (GO:0007271)4.07458525
48postsynaptic membrane organization (GO:0001941)4.06710583
49behavioral response to nicotine (GO:0035095)4.00998024
50behavioral response to cocaine (GO:0048148)3.99227352
51cell differentiation in hindbrain (GO:0021533)3.96543783
52striatum development (GO:0021756)3.95643353
53serotonin metabolic process (GO:0042428)3.88868647
54cell migration in hindbrain (GO:0021535)3.88593585
55neurotransmitter transport (GO:0006836)3.86293318
56phenol-containing compound biosynthetic process (GO:0046189)3.80176884
57G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.79528440
58epithelial cell differentiation involved in kidney development (GO:0035850)3.76159544
59toxin metabolic process (GO:0009404)3.75582637
60neurotransmitter-gated ion channel clustering (GO:0072578)3.72593104
61synaptic vesicle transport (GO:0048489)3.72373568
62establishment of synaptic vesicle localization (GO:0097480)3.72373568
63positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.70486979
64synaptic vesicle maturation (GO:0016188)3.70206394
65response to amphetamine (GO:0001975)3.69982189
66regulation of synapse structural plasticity (GO:0051823)3.67559869
67intraspecies interaction between organisms (GO:0051703)3.64577281
68social behavior (GO:0035176)3.64577281
69neuronal action potential propagation (GO:0019227)3.63596589
70dendrite morphogenesis (GO:0048813)3.63294936
71positive regulation of phosphoprotein phosphatase activity (GO:0032516)3.59396989
72startle response (GO:0001964)3.59065251
73membrane depolarization during action potential (GO:0086010)3.58788549
74dopaminergic neuron differentiation (GO:0071542)3.57328245
75synaptic vesicle endocytosis (GO:0048488)3.55942790
76regulation of synaptic vesicle exocytosis (GO:2000300)3.55798469
77regulation of dopamine uptake involved in synaptic transmission (GO:0051584)3.54243148
78regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)3.54243148
79regulation of synaptic transmission, dopaminergic (GO:0032225)3.53134887
80axonal fasciculation (GO:0007413)3.51979795
81positive regulation of synapse assembly (GO:0051965)3.51450005
82neuronal action potential (GO:0019228)3.50236247
83circadian sleep/wake cycle process (GO:0022410)3.49569905
84opioid receptor signaling pathway (GO:0038003)3.49309688
85retinal ganglion cell axon guidance (GO:0031290)3.48288950
86membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.46958321
87heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0007157)3.44407854
88regulation of excitatory postsynaptic membrane potential (GO:0060079)3.43115520
89response to pheromone (GO:0019236)3.43009624
90regulation of vesicle fusion (GO:0031338)3.41877988
91regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.41025797
92synapse assembly (GO:0007416)3.40298480
93positive regulation of synaptic transmission, GABAergic (GO:0032230)3.37508458
94establishment of mitochondrion localization (GO:0051654)3.37344898
95regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.37212784
96C4-dicarboxylate transport (GO:0015740)3.36477301
97exploration behavior (GO:0035640)3.35189016
98regulation of postsynaptic membrane potential (GO:0060078)3.34459114
99auditory behavior (GO:0031223)3.32766560
100neuron maturation (GO:0042551)3.28363658
101primary amino compound metabolic process (GO:1901160)3.28222496
102regulation of synaptic vesicle transport (GO:1902803)3.25349139
103neuron-neuron synaptic transmission (GO:0007270)3.24006371
104positive regulation of growth hormone secretion (GO:0060124)3.22921218
105positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.22294720
106membrane depolarization (GO:0051899)3.20505776
107response to histamine (GO:0034776)3.19264125
108cellular potassium ion homeostasis (GO:0030007)3.17408215
109long-term memory (GO:0007616)3.17269565
110positive regulation of potassium ion transmembrane transport (GO:1901381)3.16622453
111central nervous system projection neuron axonogenesis (GO:0021952)3.15423041
112regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.14804414
113regulation of glutamate receptor signaling pathway (GO:1900449)3.13453665
114catecholamine metabolic process (GO:0006584)3.13412216
115catechol-containing compound metabolic process (GO:0009712)3.13412216
116regulation of synaptic transmission, glutamatergic (GO:0051966)3.13101656
117dendritic spine morphogenesis (GO:0060997)3.12409572
118establishment of vesicle localization (GO:0051650)3.12322394
119negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.11579047
120collecting duct development (GO:0072044)3.11548327
121righting reflex (GO:0060013)3.09327450
122* adult behavior (GO:0030534)3.07991843
123ionotropic glutamate receptor signaling pathway (GO:0035235)3.07925285
124circadian behavior (GO:0048512)3.05030756
125regulation of long-term neuronal synaptic plasticity (GO:0048169)3.04529660
126locomotory exploration behavior (GO:0035641)3.03594318
127positive regulation of synapse maturation (GO:0090129)3.02716816
128regulation of glutamate secretion (GO:0014048)3.01608348
129innervation (GO:0060384)3.01176590
130negative regulation of synaptic transmission, GABAergic (GO:0032229)3.01040366
131response to auditory stimulus (GO:0010996)3.00632212
132regulation of neuronal synaptic plasticity (GO:0048168)3.00380345
133positive regulation of amino acid transport (GO:0051957)3.00249854
134regulation of synapse assembly (GO:0051963)2.99917419
135positive regulation of dendritic spine development (GO:0060999)2.99386073
136regulation of dendritic spine morphogenesis (GO:0061001)2.97123440
137cellular sodium ion homeostasis (GO:0006883)2.96709602
138* cerebellar Purkinje cell layer development (GO:0021680)2.94934773
139chaperone-mediated protein transport (GO:0072321)2.94761990
140rhythmic behavior (GO:0007622)2.92634698
141* locomotory behavior (GO:0007626)2.91726310
142neuromuscular synaptic transmission (GO:0007274)2.89805703
143protein localization to synapse (GO:0035418)2.89778630
144establishment of protein localization to mitochondrial membrane (GO:0090151)2.88878520
145synapse organization (GO:0050808)2.87452942
146inner ear receptor stereocilium organization (GO:0060122)2.85663006
147serotonin receptor signaling pathway (GO:0007210)2.85041143
148gamma-aminobutyric acid transport (GO:0015812)2.84824113
149urinary tract smooth muscle contraction (GO:0014848)2.82590079
150neuronal ion channel clustering (GO:0045161)2.82226156
151* adult walking behavior (GO:0007628)2.80704629
152response to amine (GO:0014075)2.79501170
153positive regulation of neurotransmitter transport (GO:0051590)2.79148591
154mitochondrion transport along microtubule (GO:0047497)2.76509008
155establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.76509008
156axon extension (GO:0048675)2.73388826
157dopamine biosynthetic process (GO:0042416)10.1264823

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human9.24195091
2IGF1R_20145208_ChIP-Seq_DFB_Human3.61961039
3GBX2_23144817_ChIP-Seq_PC3_Human3.36098689
4NR4A2_19515692_ChIP-ChIP_MN9D_Mouse3.24530368
5CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons3.01310681
6* TAF15_26573619_Chip-Seq_HEK293_Human2.97654613
7* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.78637079
8RBPJ_22232070_ChIP-Seq_NCS_Mouse2.69662536
9SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.63961957
10JARID2_20064375_ChIP-Seq_MESCs_Mouse2.61219739
11GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.57645021
12EZH2_18974828_ChIP-Seq_MESCs_Mouse2.37686503
13RNF2_18974828_ChIP-Seq_MESCs_Mouse2.37686503
14REST_21632747_ChIP-Seq_MESCs_Mouse2.37476283
15* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.33028368
16IKZF1_21737484_ChIP-ChIP_HCT116_Human2.32695746
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.29096621
18CTBP2_25329375_ChIP-Seq_LNCAP_Human2.22199678
19* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.20282361
20SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.18612343
21* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.17787600
22JARID2_20075857_ChIP-Seq_MESCs_Mouse2.13435289
23* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.10731162
24* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.10054087
25* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.98547892
26EED_16625203_ChIP-ChIP_MESCs_Mouse1.98361216
27BMI1_23680149_ChIP-Seq_NPCS_Mouse1.97910646
28CTBP1_25329375_ChIP-Seq_LNCAP_Human1.89492984
29ZNF274_21170338_ChIP-Seq_K562_Hela1.89156487
30REST_18959480_ChIP-ChIP_MESCs_Mouse1.88905330
31EZH2_27294783_Chip-Seq_ESCs_Mouse1.85850482
32RNF2_27304074_Chip-Seq_ESCs_Mouse1.81956058
33DROSHA_22980978_ChIP-Seq_HELA_Human1.80172224
34HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.75975440
35* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.71275665
36AR_21572438_ChIP-Seq_LNCaP_Human1.61292134
37CBX2_27304074_Chip-Seq_ESCs_Mouse1.54011895
38PIAS1_25552417_ChIP-Seq_VCAP_Human1.51997251
39RNF2_27304074_Chip-Seq_NSC_Mouse1.51214332
40P300_19829295_ChIP-Seq_ESCs_Human1.50881635
41SMAD4_21799915_ChIP-Seq_A2780_Human1.49809892
42* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.49202805
43RARB_27405468_Chip-Seq_BRAIN_Mouse1.45780309
44SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.42222607
45TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.40534843
46PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.40483873
47BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.40217214
48NR3C1_23031785_ChIP-Seq_PC12_Mouse1.39280587
49RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.39097470
50TOP2B_26459242_ChIP-Seq_MCF-7_Human1.35622364
51GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.33408953
52MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.31066555
53VDR_22108803_ChIP-Seq_LS180_Human1.30753691
54FUS_26573619_Chip-Seq_HEK293_Human1.30743053
55SMAD3_21741376_ChIP-Seq_EPCs_Human1.27507815
56AR_25329375_ChIP-Seq_VCAP_Human1.27405209
57SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.27281904
58ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.26461219
59OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.21948238
60* SOX2_21211035_ChIP-Seq_LN229_Gbm1.19227388
61MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.19048879
62STAT3_23295773_ChIP-Seq_U87_Human1.18786345
63* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.18139771
64* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17974131
65CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.17154573
66ERG_21242973_ChIP-ChIP_JURKAT_Human1.16791813
67RUNX2_22187159_ChIP-Seq_PCA_Human1.16033270
68CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15972864
69RING1B_27294783_Chip-Seq_ESCs_Mouse1.13880197
70TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13215422
71POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.13215422
72* BCAT_22108803_ChIP-Seq_LS180_Human1.12934772
73TAL1_26923725_Chip-Seq_HPCs_Mouse1.11547209
74JUN_21703547_ChIP-Seq_K562_Human1.10935404
75AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.10420810
76SOX9_26525672_Chip-Seq_HEART_Mouse1.10286072
77MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.05619613
78CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.04881116
79MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04683603
80AR_19668381_ChIP-Seq_PC3_Human1.03620930
81TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03378054
82RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.02939295
83TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.01881523
84* KDM2B_26808549_Chip-Seq_REH_Human1.00964556
85SALL1_21062744_ChIP-ChIP_HESCs_Human1.00654772
86CBP_20019798_ChIP-Seq_JUKART_Human1.00497985
87IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.00497985
88SMAD_19615063_ChIP-ChIP_OVARY_Human1.00352844
89TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00263703
90CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.99604629
91TP53_18474530_ChIP-ChIP_U2OS_Human0.98953622
92ER_23166858_ChIP-Seq_MCF-7_Human0.98618030
93NANOG_18555785_Chip-Seq_ESCs_Mouse0.97958178
94CDX2_19796622_ChIP-Seq_MESCs_Mouse0.96400572
95NR3C1_21868756_ChIP-Seq_MCF10A_Human0.96031068
96* TCF4_23295773_ChIP-Seq_U87_Human0.94791239
97CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.94266354
98PRDM14_20953172_ChIP-Seq_ESCs_Human0.93329174
99FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.92880506
100ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.90854534
101EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.89294502
102KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.88652749
103RING1B_27294783_Chip-Seq_NPCs_Mouse0.87608679
104RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.86977981
105LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86324948
106GATA1_26923725_Chip-Seq_HPCs_Mouse0.85880262
107ELK4_26923725_Chip-Seq_MESODERM_Mouse0.85405562
108TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.84743228
109YAP1_20516196_ChIP-Seq_MESCs_Mouse0.82574772
110* EWS_26573619_Chip-Seq_HEK293_Human0.82558573
111STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.82354810
112SRY_22984422_ChIP-ChIP_TESTIS_Rat0.81075736

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern5.99866539
2MP0006276_abnormal_autonomic_nervous4.74684694
3MP0001905_abnormal_dopamine_level4.29506380
4MP0004859_abnormal_synaptic_plasticity3.83573023
5MP0001529_abnormal_vocalization3.69525637
6MP0003635_abnormal_synaptic_transmissio3.23538638
7MP0001440_abnormal_grooming_behavior2.98988846
8MP0003122_maternal_imprinting2.87602336
9MP0001501_abnormal_sleep_pattern2.81995876
10MP0000569_abnormal_digit_pigmentation2.70072942
11MP0009745_abnormal_behavioral_response2.69119335
12MP0005423_abnormal_somatic_nervous2.64584753
13MP0002063_abnormal_learning/memory/cond2.64290289
14MP0009046_muscle_twitch2.53030556
15MP0002064_seizures2.49501910
16MP0002572_abnormal_emotion/affect_behav2.48260656
17MP0001486_abnormal_startle_reflex2.23305293
18MP0001188_hyperpigmentation2.16037328
19MP0002822_catalepsy2.13570345
20MP0004270_analgesia2.07355273
21MP0002139_abnormal_hepatobiliary_system2.03136942
22MP0005386_behavior/neurological_phenoty2.02423986
23MP0004924_abnormal_behavior2.02423986
24MP0002733_abnormal_thermal_nociception1.99991456
25MP0002734_abnormal_mechanical_nocicepti1.95317282
26MP0002557_abnormal_social/conspecific_i1.94656146
27MP0001968_abnormal_touch/_nociception1.92140820
28MP0002184_abnormal_innervation1.88417891
29MP0002272_abnormal_nervous_system1.87803423
30MP0002067_abnormal_sensory_capabilities1.81819821
31MP0002909_abnormal_adrenal_gland1.81626807
32MP0000778_abnormal_nervous_system1.79037970
33MP0001970_abnormal_pain_threshold1.74216808
34MP0004142_abnormal_muscle_tone1.58395382
35MP0005645_abnormal_hypothalamus_physiol1.55735778
36MP0004742_abnormal_vestibular_system1.53368449
37MP0003183_abnormal_peptide_metabolism1.52504262
38MP0002736_abnormal_nociception_after1.50983019
39MP0005409_darkened_coat_color1.47567381
40MP0001502_abnormal_circadian_rhythm1.46975051
41MP0008872_abnormal_physiological_respon1.41144535
42MP0004811_abnormal_neuron_physiology1.40503869
43MP0002735_abnormal_chemical_nociception1.39000264
44MP0005535_abnormal_body_temperature1.34706906
45MP0010386_abnormal_urinary_bladder1.33703791
46MP0005646_abnormal_pituitary_gland1.33369825
47MP0000538_abnormal_urinary_bladder1.29709157
48* MP0002066_abnormal_motor_capabilities/c1.26632001
49MP0002102_abnormal_ear_morphology1.21356110
50MP0000955_abnormal_spinal_cord1.20933446
51MP0002882_abnormal_neuron_morphology1.16625954
52MP0000566_synostosis1.14300639
53MP0001299_abnormal_eye_distance/1.14217560
54MP0003329_amyloid_beta_deposits1.13519962
55MP0001664_abnormal_digestion1.13460885
56MP0008877_abnormal_DNA_methylation1.11220510
57MP0003121_genomic_imprinting1.08900801
58MP0003633_abnormal_nervous_system1.08159502
59MP0004133_heterotaxia1.07285234
60MP0000631_abnormal_neuroendocrine_gland1.06746497
61MP0003283_abnormal_digestive_organ1.06326301
62MP0006072_abnormal_retinal_apoptosis1.04649010
63MP0008875_abnormal_xenobiotic_pharmacok1.03930772
64MP0002638_abnormal_pupillary_reflex1.03806863
65MP0001984_abnormal_olfaction1.03065295
66MP0004043_abnormal_pH_regulation1.02017111
67MP0002332_abnormal_exercise_endurance0.98696348
68MP0002653_abnormal_ependyma_morphology0.98623896
69MP0000751_myopathy0.97392045
70MP0002751_abnormal_autonomic_nervous0.96649194
71MP0005248_abnormal_Harderian_gland0.95374848
72* MP0002152_abnormal_brain_morphology0.93384825
73MP0002837_dystrophic_cardiac_calcinosis0.92530127
74MP0004885_abnormal_endolymph0.91199335
75MP0008961_abnormal_basal_metabolism0.90661328
76MP0003137_abnormal_impulse_conducting0.87765438
77MP0005551_abnormal_eye_electrophysiolog0.87568927
78MP0001346_abnormal_lacrimal_gland0.85322420
79MP0002069_abnormal_eating/drinking_beha0.84885503
80MP0004145_abnormal_muscle_electrophysio0.84673541
81MP0004215_abnormal_myocardial_fiber0.81213924
82MP0004233_abnormal_muscle_weight0.80625848
83MP0003632_abnormal_nervous_system0.80486534
84MP0005499_abnormal_olfactory_system0.80478220
85MP0005394_taste/olfaction_phenotype0.80478220
86MP0001177_atelectasis0.80407595
87MP0008569_lethality_at_weaning0.79440732
88MP0005253_abnormal_eye_physiology0.77515912
89MP0000026_abnormal_inner_ear0.76130562
90MP0003119_abnormal_digestive_system0.72934237
91MP0008995_early_reproductive_senescence0.71993286
92MP0002752_abnormal_somatic_nervous0.71824044
93MP0000747_muscle_weakness0.71527801
94MP0002082_postnatal_lethality0.71029860
95MP0002229_neurodegeneration0.70784358
96MP0005647_abnormal_sex_gland0.69101912
97MP0002090_abnormal_vision0.68458362
98MP0003631_nervous_system_phenotype0.68349781
99MP0000639_abnormal_adrenal_gland0.66832151
100MP0010769_abnormal_survival0.66575835
101MP0000534_abnormal_ureter_morphology0.65043650
102MP0010768_mortality/aging0.64633091
103MP0005623_abnormal_meninges_morphology0.62537508
104MP0001485_abnormal_pinna_reflex0.62167563
105MP0003787_abnormal_imprinting0.61999470
106MP0004085_abnormal_heartbeat0.61708276
107MP0003890_abnormal_embryonic-extraembry0.61662868
108MP0000462_abnormal_digestive_system0.61650624
109MP0001963_abnormal_hearing_physiology0.61144079
110MP0003861_abnormal_nervous_system0.60806050
111MP0001943_abnormal_respiration0.59396977
112MP0003315_abnormal_perineum_morphology0.57542382
113MP0003634_abnormal_glial_cell0.57413369
114MP0002160_abnormal_reproductive_system0.56969588
115MP0002081_perinatal_lethality0.56381885
116MP0003879_abnormal_hair_cell0.56006840
117MP0008874_decreased_physiological_sensi0.55282451
118MP0005187_abnormal_penis_morphology0.55080854
119MP0003959_abnormal_lean_body0.53711507
120MP0001542_abnormal_bone_strength0.51331247
121MP0006035_abnormal_mitochondrial_morpho0.51174842
122MP0008770_decreased_survivor_rate0.50789620
123MP0010770_preweaning_lethality0.50426163

Predicted human phenotypes

RankGene SetZ-score
1Action tremor (HP:0002345)5.73278732
2Pheochromocytoma (HP:0002666)5.30607606
3Focal motor seizures (HP:0011153)5.14513735
4Failure to thrive in infancy (HP:0001531)5.07203917
5Myokymia (HP:0002411)4.98638175
6Visual hallucinations (HP:0002367)4.88074276
7Neuroendocrine neoplasm (HP:0100634)4.68585527
8Focal seizures (HP:0007359)4.46818374
9Scanning speech (HP:0002168)4.45765618
10Hypothermia (HP:0002045)4.00982392
11Parkinsonism with favorable response to dopaminergic medication (HP:0002548)3.99108579
12Dysdiadochokinesis (HP:0002075)3.94979453
13Dysmetric saccades (HP:0000641)3.87243800
14Gaze-evoked nystagmus (HP:0000640)3.63062641
15Abnormal pupillary function (HP:0007686)3.61057930
16Degeneration of the lateral corticospinal tracts (HP:0002314)3.60900471
17Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.60900471
18Delayed gross motor development (HP:0002194)3.53086039
19Abnormality of the corticospinal tract (HP:0002492)3.38511912
20Febrile seizures (HP:0002373)3.32897487
21Generalized tonic-clonic seizures (HP:0002069)3.31422210
22Progressive cerebellar ataxia (HP:0002073)3.27498255
23Impaired vibration sensation in the lower limbs (HP:0002166)3.27339320
24Hypoventilation (HP:0002791)3.24738305
25Potter facies (HP:0002009)3.22204723
26Facial shape deformation (HP:0011334)3.22204723
27Polyphagia (HP:0002591)3.19046606
28Ulnar claw (HP:0001178)3.17646179
29Cerebral hemorrhage (HP:0001342)3.15252040
30Hypokinesia (HP:0002375)3.03469717
31Progressive inability to walk (HP:0002505)3.03374435
32Poor suck (HP:0002033)3.03178574
33Agitation (HP:0000713)3.00617217
34Cerebral inclusion bodies (HP:0100314)2.91246509
35Epileptic encephalopathy (HP:0200134)2.89170395
36Morphological abnormality of the pyramidal tract (HP:0002062)2.81852737
37Horizontal nystagmus (HP:0000666)2.81138714
38Atonic seizures (HP:0010819)2.80099102
39Abnormal hair whorl (HP:0010721)2.79315863
40Gait imbalance (HP:0002141)2.75431284
41Intention tremor (HP:0002080)2.73291302
42Diminished movement (HP:0002374)2.73254766
43Neoplasm of the peripheral nervous system (HP:0100007)2.69466059
44Abnormality of the parathyroid morphology (HP:0011766)2.65097551
45Anterior segment dysgenesis (HP:0007700)2.64930287
46Impaired smooth pursuit (HP:0007772)2.64811248
47Mutism (HP:0002300)2.62586828
48Esotropia (HP:0000565)2.62214753
49Anxiety (HP:0000739)2.61028291
50Torticollis (HP:0000473)2.60617691
51Hyperventilation (HP:0002883)2.53480559
52Abnormal eating behavior (HP:0100738)2.52889579
53Supranuclear gaze palsy (HP:0000605)2.51936145
54Postural tremor (HP:0002174)2.50989741
55Drooling (HP:0002307)2.50891791
56Excessive salivation (HP:0003781)2.50891791
57Urinary urgency (HP:0000012)2.50422126
58Abnormality of calcium-phosphate metabolism (HP:0100530)2.49810273
59Papilledema (HP:0001085)2.47201334
60Ankle clonus (HP:0011448)2.45194544
61Muscular hypotonia of the trunk (HP:0008936)2.44374886
62Fetal akinesia sequence (HP:0001989)2.43413164
63Status epilepticus (HP:0002133)2.43063482
64Akinesia (HP:0002304)2.42700502
65Absence seizures (HP:0002121)2.41475582
66Rigidity (HP:0002063)2.40613916
67Bradykinesia (HP:0002067)2.39954226
68Abnormality of the labia minora (HP:0012880)2.38822022
69Hypercortisolism (HP:0001578)2.35280452
70Termporal pattern (HP:0011008)2.33569595
71Insidious onset (HP:0003587)2.33569595
72Dialeptic seizures (HP:0011146)2.33092967
73Acute necrotizing encephalopathy (HP:0006965)2.31579060
74Broad-based gait (HP:0002136)2.29559989
75Depression (HP:0000716)2.29340630
76Aplasia/Hypoplasia of the brainstem (HP:0007362)2.24124510
77Hypoplasia of the brainstem (HP:0002365)2.24124510
78Craniofacial dystonia (HP:0012179)2.22930371
79Sleep apnea (HP:0010535)2.19615105
80Medial flaring of the eyebrow (HP:0010747)2.16582514
81Congenital primary aphakia (HP:0007707)2.14805193
82Truncal ataxia (HP:0002078)2.11799203
83Gastroesophageal reflux (HP:0002020)2.11447507
84Focal dystonia (HP:0004373)2.11203294
85Shoulder girdle muscle weakness (HP:0003547)2.09404953
86Urinary bladder sphincter dysfunction (HP:0002839)2.05830165
87Progressive macrocephaly (HP:0004481)2.04441566
88Limb dystonia (HP:0002451)11.6746884
89Genital tract atresia (HP:0001827)1.98954047
90Narrow nasal bridge (HP:0000446)1.98807432
91Vaginal atresia (HP:0000148)1.98537078
92Abnormality of ocular smooth pursuit (HP:0000617)1.98532130
93Abnormal mitochondria in muscle tissue (HP:0008316)1.98426323
94Amblyopia (HP:0000646)1.98117540
95Nephrogenic diabetes insipidus (HP:0009806)1.97754944
96Mitochondrial inheritance (HP:0001427)1.94117228
97Impaired social interactions (HP:0000735)1.93296491
98Abnormal social behavior (HP:0012433)1.93296491
99Psychosis (HP:0000709)1.93178555
100Exotropia (HP:0000577)1.92771297
101Lissencephaly (HP:0001339)1.91233343
102Delusions (HP:0000746)1.90753776
103EEG with generalized epileptiform discharges (HP:0011198)1.90499330
104Hemiparesis (HP:0001269)1.89155924
105Neurofibrillary tangles (HP:0002185)1.88358522
106Incomplete penetrance (HP:0003829)1.87420829
107Epileptiform EEG discharges (HP:0011182)1.86355051
108Pachygyria (HP:0001302)1.85832916
109Epidermoid cyst (HP:0200040)1.85382548
110Congenital sensorineural hearing impairment (HP:0008527)1.83596208
111Abnormal ciliary motility (HP:0012262)1.83491460
112Gait ataxia (HP:0002066)1.82931617
113Oligodactyly (hands) (HP:0001180)1.82809666
114Dyskinesia (HP:0100660)1.82176136
115Hypsarrhythmia (HP:0002521)1.81720667
116Postural instability (HP:0002172)1.80915360
117Specific learning disability (HP:0001328)1.80896291
118Dysmetria (HP:0001310)1.80132637
119Neoplasm of the heart (HP:0100544)1.78946383
120Impaired vibratory sensation (HP:0002495)1.78396872
121Amyotrophic lateral sclerosis (HP:0007354)1.77801763
122Limb hypertonia (HP:0002509)1.77741979
123Oligomenorrhea (HP:0000876)1.76591152
124Methylmalonic acidemia (HP:0002912)1.75743140
125Heterochromia iridis (HP:0001100)1.73782998
126Spastic gait (HP:0002064)1.72348300
127Acute encephalopathy (HP:0006846)1.72235659
128Myoclonus (HP:0001336)1.70735715
129Concave nail (HP:0001598)1.70193815
130Retinal dysplasia (HP:0007973)1.70041394
131Inability to walk (HP:0002540)1.69615380
132Rimmed vacuoles (HP:0003805)1.69548225
133Generalized hypotonia (HP:0001290)1.69333206
134Cortical dysplasia (HP:0002539)1.69073827
135Genetic anticipation (HP:0003743)1.67910579
136Limb ataxia (HP:0002070)1.64755432
137Hemiplegia (HP:0002301)1.60375701
138Labial hypoplasia (HP:0000066)1.58628080
139Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.58517938
140Abnormality of salivation (HP:0100755)1.58137302
141Abnormality of saccadic eye movements (HP:0000570)1.57839957
142Poor coordination (HP:0002370)1.55624754
143Lower limb muscle weakness (HP:0007340)1.55589428
144Morphological abnormality of the middle ear (HP:0008609)1.53910807

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K123.81026777
2MAPKAPK53.58486652
3PNCK3.42794714
4MARK13.39100383
5SIK33.11187210
6MAP3K43.09667658
7MAP3K93.05684679
8MINK12.76485863
9NTRK22.72292927
10CSNK1G32.54629974
11MAP2K72.34409972
12CSNK1G22.34272143
13SIK22.33560876
14NTRK32.18759075
15MAP2K42.16222121
16TAOK12.07833909
17GRK52.06476175
18BCR2.01093972
19KSR11.90412540
20CSNK1G11.89853735
21CASK1.83601677
22LATS21.73792441
23IRAK21.71341390
24PINK11.66877070
25MAPK131.65795756
26TRIM281.64002786
27PLK21.59640329
28ARAF1.55705067
29UHMK11.55279213
30EPHA41.44022554
31GRK61.40534912
32CAMK2A1.38150375
33MAP4K21.33695600
34PAK31.31850250
35FGR1.31584197
36CDK51.30940822
37RET1.30655439
38PAK61.29923130
39ADRBK21.29492098
40KSR21.25854096
41CDK181.25493286
42TYRO31.23733859
43CDK151.12244362
44NTRK11.12194561
45CAMK2B1.10380156
46STK391.07821596
47RPS6KA41.06715850
48CDK141.05482932
49CAMKK21.03963081
50EPHA31.02741042
51ERBB41.02205382
52NME11.00328974
53CDK11A0.98402892
54MAP3K130.97814126
55TAOK30.93757926
56BMPR1B0.87768330
57DYRK20.85769631
58PHKG20.84444474
59PHKG10.84444474
60CCNB10.83670493
61CAMK2D0.81228713
62PRKCG0.80716818
63WNK40.79940227
64FRK0.79626311
65FGFR20.79582902
66ADRBK10.76764848
67PRKG10.74433008
68CDK190.71845979
69CAMK1G0.71715927
70PRKG20.69845805
71DYRK1A0.69259019
72CAMK2G0.65627594
73CDK30.65149246
74FES0.62661569
75OXSR10.60494576
76PTK20.60265847
77TNIK0.56397818
78MUSK0.55567847
79SGK20.54404588
80MAPK120.53374588
81MOS0.52741991
82TNK20.52706500
83PTK2B0.52172515
84CAMKK10.50962349
85CSNK1D0.50571468
86FYN0.47319934
87CSNK1E0.46409684
88ERBB30.45535400
89WNK10.45078682
90TESK10.44742448
91SGK4940.42870883
92SGK2230.42870883
93LIMK10.42819401
94CSNK1A1L0.42340144
95RIPK40.42028194
96DYRK30.41344115
97MAP3K60.41114807
98MARK20.39377603
99WNK30.39048675
100FER0.38816946
101DYRK1B0.38119023
102YES10.37326665
103PRKACB0.36538173
104DAPK10.36125931
105STK110.35966585
106PRKCH0.35912053
107MKNK20.35899104
108PRKCA0.35338802
109BRAF0.35291943
110IRAK10.33729698
111ABL20.33517264
112CAMK10.32847146
113PRKACA0.32345439
114IRAK40.31791920
115PRKCZ0.31606605
116GRK70.31273076
117TSSK60.30820855
118PKN10.30560923
119PRKCE0.30127815
120RPS6KA30.29930643
121SYK0.28600696
122INSRR0.28174911
123BMPR20.27664395
124SGK10.26787576
125DAPK20.26734293
126MAP3K10.26567142
127CSNK1A10.26371506
128ROCK20.25246818
129RAF10.22335668

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.09157516
2Cocaine addiction_Homo sapiens_hsa050304.07468316
3Synaptic vesicle cycle_Homo sapiens_hsa047214.03724993
4Amphetamine addiction_Homo sapiens_hsa050313.11940794
5Parkinsons disease_Homo sapiens_hsa050122.95008454
6Dopaminergic synapse_Homo sapiens_hsa047282.79899170
7Oxidative phosphorylation_Homo sapiens_hsa001902.73349229
8Serotonergic synapse_Homo sapiens_hsa047262.49808442
9Collecting duct acid secretion_Homo sapiens_hsa049662.45852008
10GABAergic synapse_Homo sapiens_hsa047272.26872597
11Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.22476349
12Nitrogen metabolism_Homo sapiens_hsa009102.14510394
13Cholinergic synapse_Homo sapiens_hsa047252.04608849
14Alzheimers disease_Homo sapiens_hsa050101.86265583
15Circadian entrainment_Homo sapiens_hsa047131.84815348
16Glutamatergic synapse_Homo sapiens_hsa047241.81432724
17Long-term potentiation_Homo sapiens_hsa047201.80507754
18Vibrio cholerae infection_Homo sapiens_hsa051101.78177731
19Long-term depression_Homo sapiens_hsa047301.77620014
20Morphine addiction_Homo sapiens_hsa050321.76663391
21Gap junction_Homo sapiens_hsa045401.66749052
22Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.60724673
23Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.59087488
24Cardiac muscle contraction_Homo sapiens_hsa042601.58247252
25Insulin secretion_Homo sapiens_hsa049111.57433053
26Olfactory transduction_Homo sapiens_hsa047401.55788943
27Huntingtons disease_Homo sapiens_hsa050161.41208364
28Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.40413054
29GnRH signaling pathway_Homo sapiens_hsa049121.33726580
30Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.31899849
31Salivary secretion_Homo sapiens_hsa049701.29918656
32Aldosterone synthesis and secretion_Homo sapiens_hsa049251.29432523
33Renin secretion_Homo sapiens_hsa049241.29396848
34Tyrosine metabolism_Homo sapiens_hsa003501.23232510
35Calcium signaling pathway_Homo sapiens_hsa040201.23193119
36Taste transduction_Homo sapiens_hsa047421.23148816
37Axon guidance_Homo sapiens_hsa043601.18565198
38Phenylalanine metabolism_Homo sapiens_hsa003601.17129821
39Alcoholism_Homo sapiens_hsa050341.15094234
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.13941008
41Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.10706016
42Gastric acid secretion_Homo sapiens_hsa049711.07289114
43Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.06453017
44Oxytocin signaling pathway_Homo sapiens_hsa049211.01359363
45Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.99887600
46Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.99885416
47Estrogen signaling pathway_Homo sapiens_hsa049150.95934196
48Protein export_Homo sapiens_hsa030600.92048072
49Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.89640219
50Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.87734420
51Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.86036582
52ErbB signaling pathway_Homo sapiens_hsa040120.84778517
53Melanogenesis_Homo sapiens_hsa049160.84750465
54Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.80664274
55Phagosome_Homo sapiens_hsa041450.75986193
56Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.73113358
57Phototransduction_Homo sapiens_hsa047440.72630849
58Oocyte meiosis_Homo sapiens_hsa041140.71880862
59cAMP signaling pathway_Homo sapiens_hsa040240.70678433
60Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.67314611
61Rheumatoid arthritis_Homo sapiens_hsa053230.62434362
62Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.60667237
63Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.59621051
64Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.58663889
65Dorso-ventral axis formation_Homo sapiens_hsa043200.55990345
66Thyroid hormone synthesis_Homo sapiens_hsa049180.55987854
67Vascular smooth muscle contraction_Homo sapiens_hsa042700.53387682
68Glioma_Homo sapiens_hsa052140.52608371
69Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.52098220
70Phospholipase D signaling pathway_Homo sapiens_hsa040720.51296163
71Type II diabetes mellitus_Homo sapiens_hsa049300.50198115
72Maturity onset diabetes of the young_Homo sapiens_hsa049500.48358771
73Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.48017609
74African trypanosomiasis_Homo sapiens_hsa051430.48009281
75Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.47831004
76Choline metabolism in cancer_Homo sapiens_hsa052310.45740854
77Renal cell carcinoma_Homo sapiens_hsa052110.45516931
78Type I diabetes mellitus_Homo sapiens_hsa049400.44314126
79Ovarian steroidogenesis_Homo sapiens_hsa049130.43640230
80Phosphatidylinositol signaling system_Homo sapiens_hsa040700.43630669
81Glucagon signaling pathway_Homo sapiens_hsa049220.42616615
82MAPK signaling pathway_Homo sapiens_hsa040100.41923845
83Steroid biosynthesis_Homo sapiens_hsa001000.41710021
84Glycerophospholipid metabolism_Homo sapiens_hsa005640.41637333
85Regulation of autophagy_Homo sapiens_hsa041400.41437336
86Sphingolipid signaling pathway_Homo sapiens_hsa040710.41340046
87Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.41085086
88Histidine metabolism_Homo sapiens_hsa003400.39553587
89Dilated cardiomyopathy_Homo sapiens_hsa054140.39064401
90Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.38633009
91Ether lipid metabolism_Homo sapiens_hsa005650.38414402
92Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.38320302
93cGMP-PKG signaling pathway_Homo sapiens_hsa040220.36698772
94Wnt signaling pathway_Homo sapiens_hsa043100.34873023
95Fatty acid biosynthesis_Homo sapiens_hsa000610.34867447
96Hedgehog signaling pathway_Homo sapiens_hsa043400.34419238
97Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.33093309
98Pyruvate metabolism_Homo sapiens_hsa006200.31357726
99Mineral absorption_Homo sapiens_hsa049780.31100079
100Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.29971502
101VEGF signaling pathway_Homo sapiens_hsa043700.29823238
102Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.29805187
103Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.28877530
104Neurotrophin signaling pathway_Homo sapiens_hsa047220.28634589
105Rap1 signaling pathway_Homo sapiens_hsa040150.27923112
106Prolactin signaling pathway_Homo sapiens_hsa049170.27523283
107Ras signaling pathway_Homo sapiens_hsa040140.27418933
108Pancreatic secretion_Homo sapiens_hsa049720.25635148
109Butanoate metabolism_Homo sapiens_hsa006500.25436299
110Sulfur metabolism_Homo sapiens_hsa009200.24661842
111Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.23775664
112Renin-angiotensin system_Homo sapiens_hsa046140.23463279
113Prion diseases_Homo sapiens_hsa050200.22306836
114Endocytosis_Homo sapiens_hsa041440.22095797
115Inositol phosphate metabolism_Homo sapiens_hsa005620.22073666
116Glycerolipid metabolism_Homo sapiens_hsa005610.20958234
117Circadian rhythm_Homo sapiens_hsa047100.20671969
118Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.20051886
119Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.19522049
120Hippo signaling pathway_Homo sapiens_hsa043900.18300166
121Carbohydrate digestion and absorption_Homo sapiens_hsa049730.15546031

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