CKMT1A

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: Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1desmosome organization (GO:0002934)5.95108952
2synaptic vesicle docking involved in exocytosis (GO:0016081)5.58715947
3glutamate secretion (GO:0014047)5.44039964
4synaptic vesicle maturation (GO:0016188)5.16776888
5sodium ion export (GO:0071436)5.03440590
6regulation of short-term neuronal synaptic plasticity (GO:0048172)4.86418392
7cellular potassium ion homeostasis (GO:0030007)4.68190768
8bundle of His cell to Purkinje myocyte communication (GO:0086069)4.61703732
9synaptic vesicle exocytosis (GO:0016079)4.41759277
10positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.27229617
11neurotransmitter secretion (GO:0007269)4.07853553
12regulation of synaptic vesicle exocytosis (GO:2000300)4.03436320
13regulation of water loss via skin (GO:0033561)4.01024889
14NADH metabolic process (GO:0006734)3.99963608
15positive regulation of synapse maturation (GO:0090129)3.85912737
16cell communication involved in cardiac conduction (GO:0086065)3.73380209
17establishment of skin barrier (GO:0061436)3.72244473
18multicellular organismal water homeostasis (GO:0050891)3.49225817
19regulation of heart rate by cardiac conduction (GO:0086091)3.48609482
20regulation of synaptic vesicle transport (GO:1902803)3.41750194
21potassium ion homeostasis (GO:0055075)3.39054290
22intestinal epithelial cell development (GO:0060576)3.36554915
23neurotransmitter transport (GO:0006836)3.32668248
24positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.30709610
25hemidesmosome assembly (GO:0031581)3.28873440
26cytoskeletal anchoring at plasma membrane (GO:0007016)3.28148910
27cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.22128307
28cardiac conduction (GO:0061337)3.21141587
29regulation of neuronal synaptic plasticity (GO:0048168)3.19913592
30vocalization behavior (GO:0071625)3.19181490
31dendritic spine organization (GO:0097061)3.16759990
32regulation of neurotransmitter levels (GO:0001505)2.92822886
33cerebellar Purkinje cell layer development (GO:0021680)2.90267781
34negative regulation of dendrite morphogenesis (GO:0050774)2.89480479
35synaptic vesicle endocytosis (GO:0048488)2.88286274
36regulation of guanylate cyclase activity (GO:0031282)2.86571555
37regulation of long-term neuronal synaptic plasticity (GO:0048169)2.85412572
38dendritic spine morphogenesis (GO:0060997)2.84883293
39cellular sodium ion homeostasis (GO:0006883)2.83070782
40GDP-mannose metabolic process (GO:0019673)2.82174240
41water homeostasis (GO:0030104)2.81472139
42cell communication by electrical coupling (GO:0010644)2.81184445
43intermediate filament organization (GO:0045109)2.79834400
44layer formation in cerebral cortex (GO:0021819)2.77203220
45ventricular cardiac muscle cell action potential (GO:0086005)2.69597924
46cerebellar granule cell differentiation (GO:0021707)2.69565631
47proline transport (GO:0015824)2.67936994
48cochlea development (GO:0090102)2.67747621
49sodium ion homeostasis (GO:0055078)2.64839640
50regulation of synapse maturation (GO:0090128)2.64726110
51regulation of synaptic plasticity (GO:0048167)2.60723156
52membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.58861173
53response to histamine (GO:0034776)2.55204982
54keratinization (GO:0031424)2.55110517
55nucleoside diphosphate biosynthetic process (GO:0009133)2.52943694
56peptidyl-tyrosine autophosphorylation (GO:0038083)2.52026572
57chemosensory behavior (GO:0007635)2.51611441
58potassium ion import (GO:0010107)2.50418797
59calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)2.49826127
60positive regulation of membrane potential (GO:0045838)2.48367542
61positive regulation of dendritic spine morphogenesis (GO:0061003)2.46715668
62ionotropic glutamate receptor signaling pathway (GO:0035235)2.44999114
63regulation of ARF protein signal transduction (GO:0032012)2.44400663
64negative regulation of keratinocyte proliferation (GO:0010839)2.43782103
65tricarboxylic acid cycle (GO:0006099)2.43627448
66myelin maintenance (GO:0043217)2.43543898
67locomotory exploration behavior (GO:0035641)2.43007189
68negative regulation of microtubule polymerization (GO:0031115)2.42302292
69cardiac muscle cell action potential involved in contraction (GO:0086002)2.41812902
70positive regulation of respiratory burst (GO:0060267)2.41689813
71oxaloacetate metabolic process (GO:0006107)2.39185899
72apical protein localization (GO:0045176)2.38553303
73regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.38470491
74glucose 6-phosphate metabolic process (GO:0051156)2.38125449
75proline biosynthetic process (GO:0006561)2.37733641
76innervation (GO:0060384)2.34917925
77membrane repolarization (GO:0086009)2.34721083
78regulation of clathrin-mediated endocytosis (GO:2000369)2.32572541
79glutathione biosynthetic process (GO:0006750)2.31679047
80membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.31120919
81signal release (GO:0023061)2.29773880
82exploration behavior (GO:0035640)2.29383328
83regulation of vesicle fusion (GO:0031338)2.27874567
84positive regulation of neurotransmitter secretion (GO:0001956)2.27521980
85mating behavior (GO:0007617)2.26599852
86cardiac muscle cell action potential (GO:0086001)2.26304372
87dicarboxylic acid transport (GO:0006835)2.25800360
88activation of Rac GTPase activity (GO:0032863)2.25380105
89positive regulation of sodium ion transport (GO:0010765)2.25183010
90regulation of cellular respiration (GO:0043457)2.25117375
91neuronal action potential propagation (GO:0019227)2.24847436
92synaptic vesicle transport (GO:0048489)2.24263484
93establishment of synaptic vesicle localization (GO:0097480)2.24263484
94neuromuscular process controlling balance (GO:0050885)2.24016485
95positive regulation of neurotransmitter transport (GO:0051590)2.23894661
96neuronal ion channel clustering (GO:0045161)2.22969375
97membrane hyperpolarization (GO:0060081)2.22825641
98neutral amino acid transport (GO:0015804)2.22787575
99multicellular organismal signaling (GO:0035637)2.21995200
100long term synaptic depression (GO:0060292)2.21414715

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human5.56179695
2NR4A2_19515692_ChIP-ChIP_MN9D_Mouse3.32688200
3ZNF263_19887448_ChIP-Seq_K562_Human2.57350771
4ESR2_21235772_ChIP-Seq_MCF-7_Human2.53346825
5ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.46612868
6CDX2_20551321_ChIP-Seq_CACO-2_Human2.40446650
7TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.32893702
8RARB_27405468_Chip-Seq_BRAIN_Mouse2.23421889
9TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.19752368
10EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.19053625
11SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.17004814
12ERG_21242973_ChIP-ChIP_JURKAT_Human2.16391153
13ESR1_21235772_ChIP-Seq_MCF-7_Human2.11486044
14RACK7_27058665_Chip-Seq_MCF-7_Human2.09823688
15ESR1_15608294_ChIP-ChIP_MCF-7_Human1.91338635
16CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.88141284
17PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.84922277
18REST_21632747_ChIP-Seq_MESCs_Mouse1.84288745
19MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.71384502
20NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.70051510
21AR_21909140_ChIP-Seq_LNCAP_Human1.67187290
22REST_18959480_ChIP-ChIP_MESCs_Mouse1.67094785
23TET1_21490601_ChIP-Seq_MESCs_Mouse1.66550289
24SOX2_27498859_Chip-Seq_STOMACH_Mouse1.66239815
25ZFP281_18757296_ChIP-ChIP_E14_Mouse1.65151514
26SRY_22984422_ChIP-ChIP_TESTIS_Rat1.64306341
27ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.62529131
28BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.61431886
29CTCF_27219007_Chip-Seq_Bcells_Human1.54301441
30SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.53535270
31ESR1_20079471_ChIP-ChIP_T-47D_Human1.53189195
32SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.51833908
33TET1_21451524_ChIP-Seq_MESCs_Mouse1.50518115
34DROSHA_22980978_ChIP-Seq_HELA_Human1.49862694
35LXR_22292898_ChIP-Seq_THP-1_Human1.48669106
36DNAJC2_21179169_ChIP-ChIP_NT2_Human1.45722633
37THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.43797327
38SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.41578627
39RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.38625017
40GATA6_25053715_ChIP-Seq_YYC3_Human1.38572859
41EZH2_27294783_Chip-Seq_ESCs_Mouse1.38440850
42CREB1_26743006_Chip-Seq_LNCaP_Human1.37039750
43HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.35813563
44SMC4_20622854_ChIP-Seq_HELA_Human1.31688180
45E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.31404933
46ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.30954256
47RUNX1_27514584_Chip-Seq_MCF-7_Human1.30003293
48PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.29969047
49CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.29627374
50TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.29171686
51SUZ12_27294783_Chip-Seq_ESCs_Mouse1.28496394
52KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.28447741
53SOX2_20726797_ChIP-Seq_SW620_Human1.27160585
54POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.27010719
55SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.26623811
56ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.26090705
57JARID2_20075857_ChIP-Seq_MESCs_Mouse1.25776713
58MTF2_20144788_ChIP-Seq_MESCs_Mouse1.24788416
59P63_26484246_Chip-Seq_KERATINOCYTES_Human1.22313293
60SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.21725460
61SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.17681923
62RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.17454537
63KDM2B_26808549_Chip-Seq_K562_Human1.16379653
64KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.14901049
65EZH2_18974828_ChIP-Seq_MESCs_Mouse1.14281459
66RNF2_18974828_ChIP-Seq_MESCs_Mouse1.14281459
67GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.14231687
68P68_20966046_ChIP-Seq_HELA_Human1.13620703
69KLF4_18555785_ChIP-Seq_MESCs_Mouse1.12077657
70TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11260803
71UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.09929374
72SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.09717361
73KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.08579550
74CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.07509969
75OCT4_18692474_ChIP-Seq_MEFs_Mouse1.07486865
76EZH2_27304074_Chip-Seq_ESCs_Mouse1.07068396
77HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.05705467
78GATA3_24758297_ChIP-Seq_MCF-7_Human1.05686696
79ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.04041169
80KLF5_25053715_ChIP-Seq_YYC3_Human1.03578605
81EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.03574634
82SA1_27219007_Chip-Seq_Bcells_Human1.03360426
83* TP63_22573176_ChIP-Seq_HFKS_Human1.03246645
84JARID2_20064375_ChIP-Seq_MESCs_Mouse1.00678420
85ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.00161827
86WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.98396483
87NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.97821304
88THAP11_20581084_ChIP-Seq_MESCs_Mouse0.97604818
89SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.97408659
90* CHD1_26751641_Chip-Seq_LNCaP_Human0.97052045
91NANOG_18555785_ChIP-Seq_MESCs_Mouse0.94660995
92SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.94415504
93ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.94166763
94ATF3_27146783_Chip-Seq_COLON_Human0.92071987
95CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.89392301
96SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.89230863
97CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.89159996
98ZFX_18555785_ChIP-Seq_MESCs_Mouse0.89056623
99NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.88475542
100JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.87124677

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010234_abnormal_vibrissa_follicle6.21691201
2MP0004270_analgesia4.15928759
3MP0000579_abnormal_nail_morphology3.62173057
4MP0002796_impaired_skin_barrier3.49978556
5MP0004859_abnormal_synaptic_plasticity3.37176903
6MP0003880_abnormal_central_pattern3.00123779
7MP0004264_abnormal_extraembryonic_tissu2.54927136
8MP0009780_abnormal_chondrocyte_physiolo2.22491990
9MP0000566_synostosis2.19633472
10MP0003941_abnormal_skin_development2.09378389
11MP0002734_abnormal_mechanical_nocicepti2.08399128
12MP0003635_abnormal_synaptic_transmissio2.07896950
13MP0005501_abnormal_skin_physiology2.06981439
14MP0003123_paternal_imprinting2.04402343
15MP0002064_seizures1.99809525
16MP0001188_hyperpigmentation1.96790909
17MP0003879_abnormal_hair_cell1.87816043
18MP0002098_abnormal_vibrissa_morphology1.86449215
19MP0010678_abnormal_skin_adnexa1.78488784
20MP0002822_catalepsy1.78415304
21MP0009745_abnormal_behavioral_response1.77360927
22MP0004147_increased_porphyrin_level1.76321152
23MP0005423_abnormal_somatic_nervous1.73260307
24MP0010352_gastrointestinal_tract_polyps1.65267936
25MP0004043_abnormal_pH_regulation1.62346209
26MP0002063_abnormal_learning/memory/cond1.62127827
27MP0002272_abnormal_nervous_system1.58856464
28MP0009046_muscle_twitch1.55120741
29MP0009379_abnormal_foot_pigmentation1.50511324
30MP0004782_abnormal_surfactant_physiolog1.50039981
31MP0000678_abnormal_parathyroid_gland1.48873664
32MP0002909_abnormal_adrenal_gland1.44096909
33MP0004019_abnormal_vitamin_homeostasis1.40840716
34MP0003787_abnormal_imprinting1.39092913
35MP0001968_abnormal_touch/_nociception1.38171050
36MP0001666_abnormal_nutrient_absorption1.38034988
37MP0005409_darkened_coat_color1.37277763
38MP0003329_amyloid_beta_deposits1.36661144
39MP0000467_abnormal_esophagus_morphology1.35066789
40MP0002572_abnormal_emotion/affect_behav1.34115934
41MP0001765_abnormal_ion_homeostasis1.33061631
42MP0000537_abnormal_urethra_morphology1.30366037
43MP0008569_lethality_at_weaning1.25567572
44MP0001664_abnormal_digestion1.25122392
45MP0000377_abnormal_hair_follicle1.22654502
46MP0002736_abnormal_nociception_after1.22390832
47MP0001486_abnormal_startle_reflex1.22093684
48MP0003693_abnormal_embryo_hatching1.21381299
49MP0001216_abnormal_epidermal_layer1.20059057
50MP0010771_integument_phenotype1.17468194
51MP0001501_abnormal_sleep_pattern1.16965796
52MP0005360_urolithiasis1.14012653
53MP0000762_abnormal_tongue_morphology1.11904978
54MP0003183_abnormal_peptide_metabolism1.11028902
55MP0000427_abnormal_hair_cycle1.08913699
56MP0001346_abnormal_lacrimal_gland1.08851239
57MP0000462_abnormal_digestive_system1.08340507
58MP0001970_abnormal_pain_threshold1.01337026
59MP0004885_abnormal_endolymph1.00549101
60MP0003705_abnormal_hypodermis_morpholog0.99482189
61MP0009672_abnormal_birth_weight0.97557182
62MP0000383_abnormal_hair_follicle0.96955443
63MP0003453_abnormal_keratinocyte_physiol0.96849779
64MP0002733_abnormal_thermal_nociception0.94917474
65MP0001485_abnormal_pinna_reflex0.94595092
66MP0005636_abnormal_mineral_homeostasis0.93307913
67MP0005646_abnormal_pituitary_gland0.88272120
68MP0002557_abnormal_social/conspecific_i0.86846008
69MP0002876_abnormal_thyroid_physiology0.84710268
70MP0001440_abnormal_grooming_behavior0.84177897
71MP0004811_abnormal_neuron_physiology0.82894844
72MP0003315_abnormal_perineum_morphology0.80699388
73MP0002066_abnormal_motor_capabilities/c0.80051969
74MP0003866_abnormal_defecation0.78868384
75MP0004957_abnormal_blastocyst_morpholog0.78171291
76MP0004924_abnormal_behavior0.76006037
77MP0005386_behavior/neurological_phenoty0.76006037
78MP0002069_abnormal_eating/drinking_beha0.75890341
79MP0002229_neurodegeneration0.75772973
80MP0000627_abnormal_mammary_gland0.75134793
81MP0000647_abnormal_sebaceous_gland0.75015790
82MP0004858_abnormal_nervous_system0.74546810
83MP0002067_abnormal_sensory_capabilities0.73720670
84MP0002184_abnormal_innervation0.73633411
85MP0002234_abnormal_pharynx_morphology0.73356541
86MP0002735_abnormal_chemical_nociception0.73332351
87MP0005332_abnormal_amino_acid0.73071946
88MP0001905_abnormal_dopamine_level0.71728887
89MP0003122_maternal_imprinting0.69892157
90MP0002060_abnormal_skin_morphology0.69521555
91MP0000477_abnormal_intestine_morphology0.68662882
92MP0002882_abnormal_neuron_morphology0.68133184
93MP0005085_abnormal_gallbladder_physiolo0.67876542
94MP0003283_abnormal_digestive_organ0.66648415
95MP0000538_abnormal_urinary_bladder0.66415473
96MP0001502_abnormal_circadian_rhythm0.65659652
97MP0001881_abnormal_mammary_gland0.63493112
98MP0001177_atelectasis0.62853201
99MP0008872_abnormal_physiological_respon0.62645279
100MP0005083_abnormal_biliary_tract0.62589954

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)4.95083005
2Pili torti (HP:0003777)4.94336604
3Abnormality of nail color (HP:0100643)4.17839611
4Right ventricular cardiomyopathy (HP:0011663)4.12944144
5Hyperactive renin-angiotensin system (HP:0000841)3.65912449
6Ankle clonus (HP:0011448)3.61249685
7Abnormal hair laboratory examination (HP:0003328)3.52901803
8Plantar hyperkeratosis (HP:0007556)3.34769441
9Palmoplantar hyperkeratosis (HP:0000972)3.26515935
10Akinesia (HP:0002304)3.05064437
11Palmar hyperkeratosis (HP:0010765)3.04803659
12Focal motor seizures (HP:0011153)2.99543063
13Congenital ichthyosiform erythroderma (HP:0007431)2.72902875
14Onycholysis (HP:0001806)2.71470360
15Fragile nails (HP:0001808)2.69762852
16Hypoglycemic coma (HP:0001325)2.67999491
17Abnormality of renin-angiotensin system (HP:0000847)2.64203346
18Symptomatic seizures (HP:0011145)2.61645996
19Hypoglycemic seizures (HP:0002173)2.55683802
20Alopecia of scalp (HP:0002293)2.54841415
21Epileptic encephalopathy (HP:0200134)2.46588609
22Septate vagina (HP:0001153)2.44364562
23Supranuclear gaze palsy (HP:0000605)2.43323492
24Focal seizures (HP:0007359)2.41079318
25Abnormality of glutamine family amino acid metabolism (HP:0010902)2.37030177
26Hyperinsulinemic hypoglycemia (HP:0000825)2.36819337
27Cerebral hypomyelination (HP:0006808)2.33267408
28Diminished movement (HP:0002374)2.28847254
29Abnormality of the salivary glands (HP:0010286)2.28069702
30Sparse eyelashes (HP:0000653)2.27472045
31Action tremor (HP:0002345)2.26267882
32Hypotrichosis (HP:0001006)2.25885027
33Decreased circulating renin level (HP:0003351)2.24939090
34Woolly hair (HP:0002224)2.24925053
35Hypokinesia (HP:0002375)2.24315368
36Milia (HP:0001056)2.20816619
37Gout (HP:0001997)2.16698394
38Limb dystonia (HP:0002451)2.14888290
39Epileptiform EEG discharges (HP:0011182)2.13481172
40Syncope (HP:0001279)2.12424315
41Metabolic alkalosis (HP:0200114)2.10071746
42Neonatal onset (HP:0003623)2.08841243
43Hyperparathyroidism (HP:0000843)2.01459483
44EEG with generalized epileptiform discharges (HP:0011198)2.01316199
45Hyperaldosteronism (HP:0000859)1.99957227
46Ventricular fibrillation (HP:0001663)1.99921200
47Generalized tonic-clonic seizures (HP:0002069)1.98789572
48Curly hair (HP:0002212)1.98146839
49Hyperphosphatemia (HP:0002905)1.98124538
50Abnormality of glycolysis (HP:0004366)1.96723307
51Atonic seizures (HP:0010819)1.96037974
52Febrile seizures (HP:0002373)1.94318887
53Impaired vibration sensation in the lower limbs (HP:0002166)1.93046180
54Hypsarrhythmia (HP:0002521)1.92590407
55Amelogenesis imperfecta (HP:0000705)1.92260366
56Widely patent fontanelles and sutures (HP:0004492)1.91675824
57Nail dystrophy (HP:0008404)1.90806844
58Intention tremor (HP:0002080)1.89722366
59Depression (HP:0000716)1.89422511
60Spinal cord compression (HP:0002176)1.89409385
61Lip pit (HP:0100267)1.86879617
62Dysmetria (HP:0001310)1.86556534
63Confusion (HP:0001289)1.84906053
64Tetraplegia (HP:0002445)1.80604954
65Poor suck (HP:0002033)1.78663459
66Conjunctival hamartoma (HP:0100780)1.76771323
67Abnormality of chloride homeostasis (HP:0011422)1.76689105
68Hypoplasia of dental enamel (HP:0006297)1.75629745
69Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.75578336
70Clonus (HP:0002169)1.74042988
71Double outlet right ventricle (HP:0001719)1.73376512
72Congenital malformation of the right heart (HP:0011723)1.73376512
73Visual hallucinations (HP:0002367)1.73151826
74Malnutrition (HP:0004395)1.72557901
75Spastic gait (HP:0002064)1.70121158
76Abnormal eating behavior (HP:0100738)1.70091226
77Abnormality of vitamin B metabolism (HP:0004340)1.69502592
78Flat acetabular roof (HP:0003180)1.68702170
79Dysmetric saccades (HP:0000641)1.68468386
80Alkalosis (HP:0001948)1.68397099
81Ketoacidosis (HP:0001993)1.68202126
82Torticollis (HP:0000473)1.67183480
83Abdominal distention (HP:0003270)1.66168172
84Hyperglycinuria (HP:0003108)1.65708023
85Hyponatremia (HP:0002902)1.64134840
86Abnormality of vitamin metabolism (HP:0100508)1.64092156
87Dehydration (HP:0001944)1.63887157
88Urinary urgency (HP:0000012)1.63536946
89Hypotension (HP:0002615)1.62703156
90Megaloblastic anemia (HP:0001889)1.62372328
91Anxiety (HP:0000739)1.61421593
92Muscular hypotonia of the trunk (HP:0008936)1.60333455
93Hamartoma of the eye (HP:0010568)1.59902676
94Apathy (HP:0000741)1.58416572
95Bundle branch block (HP:0011710)1.55930824
96Ependymoma (HP:0002888)1.54080622
97Acute encephalopathy (HP:0006846)1.53968855
98Focal dystonia (HP:0004373)1.53935363
99Abnormality of permanent molar morphology (HP:0011071)1.53629202
100Taurodontia (HP:0000679)1.53629202

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST1R4.18593523
2EPHA43.61311198
3EPHA23.60418298
4MAP3K93.24947236
5RIPK12.53947627
6DAPK22.30194618
7LMTK21.99804393
8NTRK31.96004608
9MET1.93970288
10MINK11.83358579
11MAP3K121.78609882
12TESK11.77804921
13NME11.71532418
14DAPK11.67342696
15TRIB31.65253526
16NTRK11.57060250
17ARAF1.56819327
18UHMK11.55103034
19FER1.53419172
20PHKG11.50335909
21PHKG21.50335909
22MAP3K21.49355055
23CAMKK11.44239510
24PRKD31.41886332
25LATS21.40547777
26CASK1.39928123
27PAK61.39563947
28SMG11.36831896
29PRKG21.34905581
30OXSR11.32454504
31TSSK61.22744430
32PRKCI1.22349673
33NEK61.20957304
34ALK1.20652405
35GRK51.07032743
36MARK11.06567727
37STK391.04513861
38TTK1.03938608
39CAMK2B1.03492963
40BRSK11.01132844
41NEK11.00531203
42PIK3CA1.00079130
43MAP2K60.99521641
44STK240.98444525
45PBK0.98289086
46CDK50.97063894
47PTK20.96459155
48RPS6KB20.92526864
49CDK180.91111250
50CDK150.90779375
51CAMK2G0.88864043
52NME20.88471570
53ACVR1B0.86119453
54CDK120.86054714
55WNK40.85387247
56EIF2AK10.85075978
57MAPKAPK30.84352517
58PKN20.83981637
59PAK30.83343103
60MST40.81657928
61CDK11A0.81341167
62CAMK2D0.81003734
63BRAF0.79579470
64EEF2K0.79399971
65CDK140.78439717
66KSR20.75844632
67PAK40.73585590
68CSNK1E0.70862328
69LIMK10.69956340
70FGFR20.69883745
71CAMK1D0.69085984
72NTRK20.68760861
73TAOK10.66517749
74BUB10.64863239
75SCYL20.64742640
76TRIM280.63417989
77PDPK10.63298356
78PTK60.62454406
79CDK190.61771866
80CAMK1G0.59175485
81ERBB20.58601569
82PRKCG0.56240616
83CAMK2A0.52543156
84CSNK1G30.51577788
85IRAK20.51289969
86CSNK1A10.51213864
87MAP2K20.50495845
88PLK20.50387453
89CSNK1G20.49012196
90PRKCH0.47713303
91MAP2K70.46018385
92PDK20.45585433
93DAPK30.43581824
94PINK10.43365541
95MAP3K40.43217571
96CAMK10.42851444
97TESK20.42530327
98CSNK1G10.40302228
99PRKCZ0.40114663
100PRKCA0.35203279

Predicted pathways (KEGG)

RankGene SetZ-score
1Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049643.21540381
2Synaptic vesicle cycle_Homo sapiens_hsa047212.86970706
3Cyanoamino acid metabolism_Homo sapiens_hsa004602.65590002
4Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.53331302
5Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.45551204
6Vitamin B6 metabolism_Homo sapiens_hsa007502.38054441
7Arginine biosynthesis_Homo sapiens_hsa002202.19246136
8Sulfur metabolism_Homo sapiens_hsa009202.10670960
92-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.03159858
10Nicotine addiction_Homo sapiens_hsa050331.84487940
11Insulin secretion_Homo sapiens_hsa049111.83263370
12Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.72292446
13Mineral absorption_Homo sapiens_hsa049781.67803731
14Amphetamine addiction_Homo sapiens_hsa050311.62454709
15Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.59410398
16Vibrio cholerae infection_Homo sapiens_hsa051101.54546603
17Long-term potentiation_Homo sapiens_hsa047201.51270437
18Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.50889290
19Fatty acid elongation_Homo sapiens_hsa000621.42394812
20* Arginine and proline metabolism_Homo sapiens_hsa003301.41991920
21Histidine metabolism_Homo sapiens_hsa003401.40711700
22Fructose and mannose metabolism_Homo sapiens_hsa000511.39299410
23Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.37724748
24Pancreatic secretion_Homo sapiens_hsa049721.26217607
25Maturity onset diabetes of the young_Homo sapiens_hsa049501.23722903
26Dopaminergic synapse_Homo sapiens_hsa047281.21276525
27Phenylalanine metabolism_Homo sapiens_hsa003601.21071977
28Glutamatergic synapse_Homo sapiens_hsa047241.19528998
29Collecting duct acid secretion_Homo sapiens_hsa049661.15611363
30Fat digestion and absorption_Homo sapiens_hsa049751.15252398
31GABAergic synapse_Homo sapiens_hsa047271.12978991
32Bile secretion_Homo sapiens_hsa049761.12789460
33Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.12405163
34Folate biosynthesis_Homo sapiens_hsa007901.08109815
35Circadian entrainment_Homo sapiens_hsa047131.07563431
36Aldosterone synthesis and secretion_Homo sapiens_hsa049251.06121276
37Gastric acid secretion_Homo sapiens_hsa049711.05788730
38Vitamin digestion and absorption_Homo sapiens_hsa049771.05345274
39Pyruvate metabolism_Homo sapiens_hsa006201.04310068
40Pentose and glucuronate interconversions_Homo sapiens_hsa000401.03458895
41Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.03379465
42Oxidative phosphorylation_Homo sapiens_hsa001901.01988507
43Carbon metabolism_Homo sapiens_hsa012001.01557684
44Biosynthesis of amino acids_Homo sapiens_hsa012301.00014389
45Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.98884592
46Galactose metabolism_Homo sapiens_hsa000520.98289391
47Cocaine addiction_Homo sapiens_hsa050300.96782646
48Salivary secretion_Homo sapiens_hsa049700.95983690
49Renin-angiotensin system_Homo sapiens_hsa046140.95218212
50Renin secretion_Homo sapiens_hsa049240.93233902
51Oocyte meiosis_Homo sapiens_hsa041140.91569914
52Alzheimers disease_Homo sapiens_hsa050100.90178656
53Carbohydrate digestion and absorption_Homo sapiens_hsa049730.84765002
54Thyroid hormone synthesis_Homo sapiens_hsa049180.82171767
55Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.80762008
56Fatty acid metabolism_Homo sapiens_hsa012120.80269867
57Tight junction_Homo sapiens_hsa045300.79595339
58Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.78434013
59Glucagon signaling pathway_Homo sapiens_hsa049220.77994211
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.73593160
61Taste transduction_Homo sapiens_hsa047420.72221922
62Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.72174913
63Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.71058641
64Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.69299099
65GnRH signaling pathway_Homo sapiens_hsa049120.68659518
66Phosphatidylinositol signaling system_Homo sapiens_hsa040700.68471421
67Morphine addiction_Homo sapiens_hsa050320.67315214
68Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.67204507
69Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.66470343
70Sulfur relay system_Homo sapiens_hsa041220.66044400
71Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.65482250
72Fatty acid biosynthesis_Homo sapiens_hsa000610.65147740
73Parkinsons disease_Homo sapiens_hsa050120.64190667
74Cardiac muscle contraction_Homo sapiens_hsa042600.63459130
75Nitrogen metabolism_Homo sapiens_hsa009100.62245296
76Cysteine and methionine metabolism_Homo sapiens_hsa002700.61922137
77Long-term depression_Homo sapiens_hsa047300.61539819
78Sphingolipid metabolism_Homo sapiens_hsa006000.60822655
79Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.60467848
80Glutathione metabolism_Homo sapiens_hsa004800.60202047
81Starch and sucrose metabolism_Homo sapiens_hsa005000.59535527
82Serotonergic synapse_Homo sapiens_hsa047260.57783284
83Estrogen signaling pathway_Homo sapiens_hsa049150.57066145
84Cholinergic synapse_Homo sapiens_hsa047250.56657263
85Butanoate metabolism_Homo sapiens_hsa006500.53007346
86Drug metabolism - other enzymes_Homo sapiens_hsa009830.52976621
87Fatty acid degradation_Homo sapiens_hsa000710.52034584
88Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.51350167
89beta-Alanine metabolism_Homo sapiens_hsa004100.49968181
90Protein digestion and absorption_Homo sapiens_hsa049740.49315678
91Propanoate metabolism_Homo sapiens_hsa006400.48220355
92Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.47810277
93Huntingtons disease_Homo sapiens_hsa050160.46121381
94Tyrosine metabolism_Homo sapiens_hsa003500.44708272
95Inositol phosphate metabolism_Homo sapiens_hsa005620.43271407
96alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.42827526
97* Metabolic pathways_Homo sapiens_hsa011000.42694791
98AMPK signaling pathway_Homo sapiens_hsa041520.42216023
99Calcium signaling pathway_Homo sapiens_hsa040200.40222161
100Ether lipid metabolism_Homo sapiens_hsa005650.40134215

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