CA8

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





Description: The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cerebellar granule cell differentiation (GO:0021707)9.26692273
2cerebellar Purkinje cell differentiation (GO:0021702)7.34784673
3cerebellar Purkinje cell layer development (GO:0021680)7.06860611
4gamma-aminobutyric acid signaling pathway (GO:0007214)6.75068601
5cellular potassium ion homeostasis (GO:0030007)6.63416914
6fructose metabolic process (GO:0006000)6.34241334
7protein heterotetramerization (GO:0051290)6.25015359
8cell differentiation in hindbrain (GO:0021533)6.21834184
9metanephric tubule development (GO:0072170)6.18795632
10metanephric nephron tubule development (GO:0072234)6.18795632
11cellular sodium ion homeostasis (GO:0006883)6.05116610
12ionotropic glutamate receptor signaling pathway (GO:0035235)5.77849449
13collecting duct development (GO:0072044)5.77017086
14sodium ion export (GO:0071436)5.68739774
15prepulse inhibition (GO:0060134)5.67558795
16metanephric nephron epithelium development (GO:0072243)5.62570102
17response to histamine (GO:0034776)5.58893034
18positive regulation of phosphoprotein phosphatase activity (GO:0032516)5.51090001
19C4-dicarboxylate transport (GO:0015740)5.49955707
20positive regulation of cardiac muscle hypertrophy (GO:0010613)5.34777979
21positive regulation of muscle hypertrophy (GO:0014742)5.34777979
22positive regulation of potassium ion transmembrane transporter activity (GO:1901018)5.33459759
23positive regulation of synaptic transmission, GABAergic (GO:0032230)5.31498886
24multicellular organismal movement (GO:0050879)5.29138008
25musculoskeletal movement (GO:0050881)5.29138008
26metanephric epithelium development (GO:0072207)5.20717625
27glutamate receptor signaling pathway (GO:0007215)5.14557684
28neuron-neuron synaptic transmission (GO:0007270)5.14335003
29retina layer formation (GO:0010842)5.00508054
30neurofilament cytoskeleton organization (GO:0060052)4.95933271
31inositol phosphate-mediated signaling (GO:0048016)4.93273078
32synaptic transmission, glutamatergic (GO:0035249)4.64027494
33regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.63352314
34potassium ion homeostasis (GO:0055075)4.39164719
35positive regulation of dendritic spine morphogenesis (GO:0061003)4.33592744
36positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.32001946
37relaxation of smooth muscle (GO:0044557)4.15756020
38G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.15250184
39negative regulation of norepinephrine secretion (GO:0010700)4.14290873
40neuronal action potential propagation (GO:0019227)4.11591519
41chemosensory behavior (GO:0007635)4.04801094
42negative regulation of heart rate (GO:0010459)3.99820463
43neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.99244935
44regulation of potassium ion transmembrane transporter activity (GO:1901016)3.94645832
45positive regulation of potassium ion transmembrane transport (GO:1901381)3.90150223
46aggressive behavior (GO:0002118)3.88843490
47positive regulation of glomerulus development (GO:0090193)3.88315643
48cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.75526648
49endoplasmic reticulum calcium ion homeostasis (GO:0032469)3.73210597
50relaxation of cardiac muscle (GO:0055119)3.69516287
51regulation of potassium ion transmembrane transport (GO:1901379)3.69354173
52positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.66323569
53mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.64538209
54negative regulation of fatty acid transport (GO:2000192)3.62625288
55long-term memory (GO:0007616)3.62037812
56behavioral response to nicotine (GO:0035095)3.58569285
57regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.58194768
58retinal cone cell development (GO:0046549)3.57589677
59innervation (GO:0060384)3.55115036
60auditory receptor cell stereocilium organization (GO:0060088)3.52519013
61relaxation of muscle (GO:0090075)3.46424000
62layer formation in cerebral cortex (GO:0021819)3.44645783
63nephron tubule development (GO:0072080)3.44205514
64serotonin metabolic process (GO:0042428)3.44080322
65long term synaptic depression (GO:0060292)3.34396042
66sodium ion homeostasis (GO:0055078)3.30551905
67membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.29641339
68G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.27629974
69synaptic vesicle exocytosis (GO:0016079)3.26229423
70negative regulation of dendrite morphogenesis (GO:0050774)3.26171077
71transmission of nerve impulse (GO:0019226)3.23014772
72positive regulation of amino acid transport (GO:0051957)3.22954853
73dopamine biosynthetic process (GO:0042416)3.22302574
74glucocorticoid receptor signaling pathway (GO:0042921)3.20640587
75membrane depolarization during action potential (GO:0086010)3.20088596
76regulation of excitatory postsynaptic membrane potential (GO:0060079)3.15382802
77regulation of centriole replication (GO:0046599)3.13278901
78cellular response to ammonium ion (GO:0071242)3.10502879
79membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.10174073
80membrane repolarization (GO:0086009)3.08464977
81detection of calcium ion (GO:0005513)3.07164449
82response to methylmercury (GO:0051597)3.05688226
83negative regulation of catecholamine secretion (GO:0033604)3.05460107
84cell communication by electrical coupling (GO:0010644)3.02217674
85cGMP metabolic process (GO:0046068)3.00882021
86endocrine hormone secretion (GO:0060986)3.00532799
87exploration behavior (GO:0035640)2.99918246
88renal tubule development (GO:0061326)2.99718288
89positive regulation of potassium ion transport (GO:0043268)2.98806415
90parturition (GO:0007567)2.96916074
91primary amino compound metabolic process (GO:1901160)2.95509231
92membrane repolarization during action potential (GO:0086011)2.94466810
93synaptic vesicle maturation (GO:0016188)2.94012223
94adult walking behavior (GO:0007628)2.92394871
95response to ammonium ion (GO:0060359)2.92222006
96negative regulation of heart contraction (GO:0045822)2.91774250
97regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.91104035
98cellular response to electrical stimulus (GO:0071257)2.90049979
99regulation of postsynaptic membrane potential (GO:0060078)2.89749806
100short-term memory (GO:0007614)10.0352366

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.28988771
2VDR_22108803_ChIP-Seq_LS180_Human4.25120891
3TAF15_26573619_Chip-Seq_HEK293_Human4.13487557
4GBX2_23144817_ChIP-Seq_PC3_Human4.05945230
5CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human3.96996231
6RBPJ_22232070_ChIP-Seq_NCS_Mouse3.94385513
7NR4A2_19515692_ChIP-ChIP_MN9D_Mouse3.79293570
8SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.60618331
9JARID2_20064375_ChIP-Seq_MESCs_Mouse2.50216896
10SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.45455492
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.41422350
12CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.37130238
13GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.34764005
14REST_21632747_ChIP-Seq_MESCs_Mouse2.33205612
15ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.18286561
16* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.15327644
17SMAD4_21799915_ChIP-Seq_A2780_Human2.12104414
18RNF2_18974828_ChIP-Seq_MESCs_Mouse2.10159956
19EZH2_18974828_ChIP-Seq_MESCs_Mouse2.10159956
20TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.08534747
21MTF2_20144788_ChIP-Seq_MESCs_Mouse2.01820213
22REST_18959480_ChIP-ChIP_MESCs_Mouse1.96160600
23SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.96027166
24CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.94733401
25SRY_22984422_ChIP-ChIP_TESTIS_Rat1.92435844
26SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.90404483
27IKZF1_21737484_ChIP-ChIP_HCT116_Human1.88777543
28* FUS_26573619_Chip-Seq_HEK293_Human1.82003423
29EED_16625203_ChIP-ChIP_MESCs_Mouse1.81290699
30SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.79659289
31FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.78491668
32GATA1_22025678_ChIP-Seq_K562_Human1.75120568
33BMI1_23680149_ChIP-Seq_NPCS_Mouse1.74770198
34RARB_27405468_Chip-Seq_BRAIN_Mouse1.74767298
35ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.68946146
36SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.68843726
37OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.67849096
38ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.67195432
39TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.66866597
40JARID2_20075857_ChIP-Seq_MESCs_Mouse1.65198132
41CDX2_19796622_ChIP-Seq_MESCs_Mouse1.64897559
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.64218441
43NR3C1_23031785_ChIP-Seq_PC12_Mouse1.62060656
44TOP2B_26459242_ChIP-Seq_MCF-7_Human1.59071089
45CTBP1_25329375_ChIP-Seq_LNCAP_Human1.58453112
46SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.51628855
47EZH2_27304074_Chip-Seq_ESCs_Mouse1.50584823
48SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.47846138
49ZFP57_27257070_Chip-Seq_ESCs_Mouse1.46863783
50MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.43898353
51HTT_18923047_ChIP-ChIP_STHdh_Human1.43346985
52PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.43272348
53NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.43257557
54AR_21572438_ChIP-Seq_LNCaP_Human1.40900258
55EGR1_19374776_ChIP-ChIP_THP-1_Human1.39734611
56AR_25329375_ChIP-Seq_VCAP_Human1.33793710
57SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31370184
58* TCF4_23295773_ChIP-Seq_U87_Human1.30836672
59FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.25922344
60PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.25141985
61EZH2_27294783_Chip-Seq_ESCs_Mouse1.24781593
62PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.24331755
63* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.24054698
64P300_19829295_ChIP-Seq_ESCs_Human1.22387852
65STAT3_23295773_ChIP-Seq_U87_Human1.22110016
66REST_19997604_ChIP-ChIP_NEURONS_Mouse1.20069125
67EWS_26573619_Chip-Seq_HEK293_Human1.19944224
68SOX9_26525672_Chip-Seq_HEART_Mouse1.16787143
69RNF2_27304074_Chip-Seq_ESCs_Mouse1.13486635
70RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.13321584
71SMAD3_21741376_ChIP-Seq_EPCs_Human1.12338243
72RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.10564362
73JUN_21703547_ChIP-Seq_K562_Human1.08909958
74CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.08813584
75SUZ12_27294783_Chip-Seq_ESCs_Mouse1.08461078
76LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04319102
77RNF2_27304074_Chip-Seq_NSC_Mouse1.01203305
78CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.99313452
79CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.99126289
80PIAS1_25552417_ChIP-Seq_VCAP_Human0.98893756
81OCT1_27270436_Chip-Seq_PROSTATE_Human0.98735702
82TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.98420563
83THAP11_20581084_ChIP-Seq_MESCs_Mouse0.97484778
84KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.96803439
85UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.96300231
86KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.96132494
87GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.95439196
88TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.94120653
89* AR_19668381_ChIP-Seq_PC3_Human0.93822684
90SALL4_22934838_ChIP-ChIP_CD34+_Human0.93395394
91IGF1R_20145208_ChIP-Seq_DFB_Human0.93004461
92MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.92812951
93YAP1_20516196_ChIP-Seq_MESCs_Mouse0.92773904
94SOX2_21211035_ChIP-Seq_LN229_Gbm0.92253884
95CTNNB1_20460455_ChIP-Seq_HCT116_Human0.91921213
96TAL1_26923725_Chip-Seq_HPCs_Mouse0.91496769
97PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.90565193
98E2F7_22180533_ChIP-Seq_HELA_Human0.85010747
99KLF5_20875108_ChIP-Seq_MESCs_Mouse0.83676383
100RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.83520208

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009046_muscle_twitch6.01772604
2MP0004742_abnormal_vestibular_system5.04425012
3MP0002272_abnormal_nervous_system4.23471781
4MP0003880_abnormal_central_pattern4.23133648
5MP0010386_abnormal_urinary_bladder3.79485989
6MP0006035_abnormal_mitochondrial_morpho3.68987761
7MP0008569_lethality_at_weaning3.67779689
8MP0003635_abnormal_synaptic_transmissio3.32548380
9MP0001984_abnormal_olfaction3.25335607
10MP0004859_abnormal_synaptic_plasticity3.17267319
11MP0004270_analgesia3.15307660
12MP0004147_increased_porphyrin_level2.81112186
13MP0001440_abnormal_grooming_behavior2.78010304
14MP0002064_seizures2.77885989
15MP0002067_abnormal_sensory_capabilities2.58829690
16MP0001968_abnormal_touch/_nociception2.54793768
17MP0009745_abnormal_behavioral_response2.48602215
18MP0002638_abnormal_pupillary_reflex2.47097906
19MP0002063_abnormal_learning/memory/cond2.39354117
20MP0001486_abnormal_startle_reflex2.16324079
21MP0003879_abnormal_hair_cell2.10786750
22MP0008875_abnormal_xenobiotic_pharmacok2.07544049
23MP0002735_abnormal_chemical_nociception2.01517763
24MP0005423_abnormal_somatic_nervous1.97066130
25MP0002572_abnormal_emotion/affect_behav1.86297545
26MP0002734_abnormal_mechanical_nocicepti1.84594141
27MP0002184_abnormal_innervation1.81228579
28MP0006276_abnormal_autonomic_nervous1.73748574
29MP0003137_abnormal_impulse_conducting1.72361178
30MP0008874_decreased_physiological_sensi1.71862223
31MP0001501_abnormal_sleep_pattern1.62768449
32MP0004036_abnormal_muscle_relaxation1.54837048
33MP0000566_synostosis1.53961573
34MP0004215_abnormal_myocardial_fiber1.45334217
35MP0000013_abnormal_adipose_tissue1.44682894
36MP0001970_abnormal_pain_threshold1.41633353
37MP0002557_abnormal_social/conspecific_i1.37924993
38MP0002066_abnormal_motor_capabilities/c1.32921711
39MP0004484_altered_response_of1.31590062
40MP0004043_abnormal_pH_regulation1.27532473
41MP0008872_abnormal_physiological_respon1.24430545
42MP0001188_hyperpigmentation1.22285233
43MP0000358_abnormal_cell_content/1.20204295
44MP0004084_abnormal_cardiac_muscle1.19782701
45MP0003787_abnormal_imprinting1.17599468
46MP0009697_abnormal_copulation1.16164892
47MP0002229_neurodegeneration1.13146206
48MP0002736_abnormal_nociception_after1.12402390
49MP0002882_abnormal_neuron_morphology1.12057744
50MP0008877_abnormal_DNA_methylation1.10380378
51MP0000003_abnormal_adipose_tissue1.07405527
52MP0004811_abnormal_neuron_physiology1.04647391
53MP0005410_abnormal_fertilization0.99961544
54MP0002733_abnormal_thermal_nociception0.99732350
55MP0004085_abnormal_heartbeat0.94328027
56MP0005620_abnormal_muscle_contractility0.93645744
57MP0003656_abnormal_erythrocyte_physiolo0.93226076
58MP0005386_behavior/neurological_phenoty0.92667609
59MP0004924_abnormal_behavior0.92667609
60MP0001485_abnormal_pinna_reflex0.89850414
61MP0001502_abnormal_circadian_rhythm0.88369709
62MP0002152_abnormal_brain_morphology0.86599562
63MP0000920_abnormal_myelination0.85098562
64MP0003633_abnormal_nervous_system0.84606823
65MP0000955_abnormal_spinal_cord0.81270050
66MP0006072_abnormal_retinal_apoptosis0.79581368
67MP0008775_abnormal_heart_ventricle0.75038698
68MP0003122_maternal_imprinting0.74212699
69MP0000569_abnormal_digit_pigmentation0.68062875
70MP0002277_abnormal_respiratory_mucosa0.67703089
71MP0005551_abnormal_eye_electrophysiolog0.66780224
72MP0003123_paternal_imprinting0.66680278
73MP0003631_nervous_system_phenotype0.65363164
74MP0005623_abnormal_meninges_morphology0.65303642
75MP0005174_abnormal_tail_pigmentation0.63156465
76MP0002160_abnormal_reproductive_system0.62424134
77MP0003698_abnormal_male_reproductive0.61786132
78MP0001299_abnormal_eye_distance/0.60790368
79MP0003011_delayed_dark_adaptation0.60441133
80MP0000015_abnormal_ear_pigmentation0.60258293
81MP0005187_abnormal_penis_morphology0.60225994
82MP0005409_darkened_coat_color0.58773174
83MP0008057_abnormal_DNA_replication0.58357346
84MP0006036_abnormal_mitochondrial_physio0.57136961
85MP0001765_abnormal_ion_homeostasis0.56665717
86MP0004142_abnormal_muscle_tone0.55847122
87MP0009379_abnormal_foot_pigmentation0.54767779
88MP0002083_premature_death0.53880260
89MP0002090_abnormal_vision0.52944763
90MP0003956_abnormal_body_size0.51895928
91MP0003868_abnormal_feces_composition0.51021244
92MP0004145_abnormal_muscle_electrophysio0.49367857
93MP0005646_abnormal_pituitary_gland0.49046530
94MP0000534_abnormal_ureter_morphology0.48373467
95MP0005220_abnormal_exocrine_pancreas0.47660664
96MP0001963_abnormal_hearing_physiology0.46105322
97MP0005171_absent_coat_pigmentation0.45631855
98MP0005535_abnormal_body_temperature0.45426682
99MP0002161_abnormal_fertility/fecundity0.45240589
100MP0010768_mortality/aging0.44941379

Predicted human phenotypes

RankGene SetZ-score
1Febrile seizures (HP:0002373)9.60605223
2Dysmetric saccades (HP:0000641)8.94436964
3Action tremor (HP:0002345)8.68835013
4Scanning speech (HP:0002168)8.44873655
5Focal motor seizures (HP:0011153)7.57732711
6Myokymia (HP:0002411)7.47263049
7Absence seizures (HP:0002121)7.36781716
8Dysdiadochokinesis (HP:0002075)6.76358179
9Horizontal nystagmus (HP:0000666)6.16162086
10Epileptic encephalopathy (HP:0200134)6.08125907
11Progressive cerebellar ataxia (HP:0002073)5.87685865
12Gaze-evoked nystagmus (HP:0000640)5.76590531
13Dialeptic seizures (HP:0011146)5.70702907
14Postural tremor (HP:0002174)5.69174673
15Truncal ataxia (HP:0002078)5.09654497
16Intention tremor (HP:0002080)4.94044907
17Dysmetria (HP:0001310)4.65913551
18Impaired vibration sensation in the lower limbs (HP:0002166)4.61165872
19Focal seizures (HP:0007359)4.60041073
20Impaired smooth pursuit (HP:0007772)4.58320995
21Abnormality of saccadic eye movements (HP:0000570)4.16410793
22Broad-based gait (HP:0002136)4.02386336
23Abnormality of ocular smooth pursuit (HP:0000617)3.81228212
24Degeneration of the lateral corticospinal tracts (HP:0002314)3.80703267
25Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.80703267
26Generalized tonic-clonic seizures (HP:0002069)3.37069402
27Limb ataxia (HP:0002070)3.27375389
28Acute necrotizing encephalopathy (HP:0006965)3.26160646
29Abnormality of the corticospinal tract (HP:0002492)3.24487448
30Abnormal mitochondria in muscle tissue (HP:0008316)2.99066357
31Impaired vibratory sensation (HP:0002495)2.85680327
32Progressive macrocephaly (HP:0004481)2.81277647
33Status epilepticus (HP:0002133)2.70586170
34Gait ataxia (HP:0002066)2.69978227
35Acute encephalopathy (HP:0006846)2.63521161
36Autoamputation (HP:0001218)2.55361701
37Depression (HP:0000716)2.42772830
38Insidious onset (HP:0003587)2.42194569
39Termporal pattern (HP:0011008)2.42194569
40Increased serum pyruvate (HP:0003542)2.39330251
41Abnormality of glycolysis (HP:0004366)2.26057615
42Mitochondrial inheritance (HP:0001427)2.24231935
43Abnormality of the anterior horn cell (HP:0006802)2.22260369
44Degeneration of anterior horn cells (HP:0002398)2.22260369
45Cerebellar atrophy (HP:0001272)2.10301787
46Increased hepatocellular lipid droplets (HP:0006565)2.09497689
47Slow progression (HP:0003677)2.04773139
48Focal dystonia (HP:0004373)2.03958917
49Atonic seizures (HP:0010819)10.2801390
50Epileptiform EEG discharges (HP:0011182)1.94235706
51Cerebral edema (HP:0002181)1.91469738
52Amblyopia (HP:0000646)1.90564148
53EEG with generalized epileptiform discharges (HP:0011198)1.86814852
54Increased CSF lactate (HP:0002490)1.83525631
55Athetosis (HP:0002305)1.81501896
56Hyperlipoproteinemia (HP:0010980)1.78847604
57Lipid accumulation in hepatocytes (HP:0006561)1.69499994
58Leukodystrophy (HP:0002415)1.68379287
59Abnormality of the heme biosynthetic pathway (HP:0010472)1.66614997
60Heterochromia iridis (HP:0001100)1.66531868
61Urinary urgency (HP:0000012)1.63438113
62Morphological abnormality of the pyramidal tract (HP:0002062)1.62140529
63Abnormality of binocular vision (HP:0011514)1.61999054
64Diplopia (HP:0000651)1.61999054
65Renal Fanconi syndrome (HP:0001994)1.60562542
66Hemiplegia (HP:0002301)1.58377534
67Abnormal gallbladder physiology (HP:0012438)1.53249242
68Cholecystitis (HP:0001082)1.53249242
69* Dysarthria (HP:0001260)1.53028130
70Spastic gait (HP:0002064)1.51303139
71Increased intramyocellular lipid droplets (HP:0012240)1.49773189
72Aplasia involving bones of the upper limbs (HP:0009823)1.49248776
73Aplasia of the phalanges of the hand (HP:0009802)1.49248776
74Aplasia involving bones of the extremities (HP:0009825)1.49248776
75Hemiparesis (HP:0001269)1.48985589
76Syncope (HP:0001279)1.42697908
77Esotropia (HP:0000565)1.42514286
78Incomplete penetrance (HP:0003829)1.39514198
79Poikilocytosis (HP:0004447)1.36448932
80Reticulocytosis (HP:0001923)1.34181428
81Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.33958884
82Exercise intolerance (HP:0003546)1.32383047
83Epidermoid cyst (HP:0200040)1.31182583
84Anxiety (HP:0000739)1.30930664
85X-linked dominant inheritance (HP:0001423)1.29937775
86Hypsarrhythmia (HP:0002521)1.26223498
87Postural instability (HP:0002172)1.25923276
88Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.24959605
89Abnormality of alanine metabolism (HP:0010916)1.24959605
90Hyperalaninemia (HP:0003348)1.24959605
91Ankle clonus (HP:0011448)1.22534484
92Urinary bladder sphincter dysfunction (HP:0002839)1.22260606
93Bradykinesia (HP:0002067)1.21690021
94Truncus arteriosus (HP:0001660)1.20114915
95Skin nodule (HP:0200036)1.19943297
96Unsteady gait (HP:0002317)1.19717755
97Decreased activity of mitochondrial respiratory chain (HP:0008972)1.19280278
98Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.19280278
99Optic disc pallor (HP:0000543)1.19086835
100Resting tremor (HP:0002322)1.16965431

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K127.10756062
2GRK54.89343941
3NTRK33.81941068
4TTK3.77962498
5MAP3K93.76178791
6EIF2AK12.30940895
7WNK12.18360756
8CSNK1G22.12201311
9ARAF2.11748078
10CSNK1G32.09855318
11CSNK1A1L2.03579051
12CAMKK21.98604950
13SCYL21.90266513
14KSR21.87508485
15MYLK1.80295903
16MINK11.75018661
17CSNK1G11.62961020
18PNCK1.61577049
19PRKCG1.61195291
20PTK61.56175368
21BRAF1.52625315
22MAP3K41.49849735
23TSSK61.40196059
24PRKG21.39860169
25PINK11.34045434
26RAF11.32225689
27CASK1.32210147
28PRKG11.32044321
29MAP3K131.29835664
30CAMK2A1.25965717
31KSR11.23407664
32DAPK11.20847366
33PDK11.19265568
34NEK11.15815359
35PAK41.13051051
36EPHA41.02426028
37CDK30.99591839
38CHEK20.99417799
39CAMKK10.95119588
40MARK10.86435466
41TESK10.84441920
42CCNB10.82140855
43PRKDC0.78199244
44CDK50.76111805
45FYN0.75168335
46ILK0.73354015
47CSNK1A10.73271458
48PLK20.69931910
49WEE10.69667607
50RPS6KA30.68880484
51PRKCA0.67564922
52TAF10.67023493
53CSNK1E0.65615459
54CAMK2B0.63945547
55SGK10.63629819
56LATS20.62540471
57NTRK20.59606856
58ROCK20.59390725
59DAPK20.59148502
60MAP2K40.56888592
61CLK10.56258160
62RPS6KB10.56237617
63MAP3K20.55700611
64BUB10.53262281
65MAP3K10.51666954
66BRSK10.50724767
67TRIM280.50723819
68RIPK40.49303937
69DAPK30.48321786
70PRKACA0.48275405
71PRKCE0.47742536
72CSNK1D0.47696832
73MAP2K70.45650863
74PRKCB0.44922828
75CDK180.43941565
76PLK10.42830310
77MAPK100.42786011
78NME10.42204618
79CAMK2D0.41895632
80CDK140.41688160
81CDK150.41411010
82WNK40.41398757
83CDC70.41011901
84CDK10.40922810
85AKT30.39890914
86CAMK2G0.35479392
87SRC0.34972005
88ATR0.34521379
89MAPK10.34423498
90CDK11A0.34379715
91PLK40.33726059
92BRSK20.32198820
93BCR0.31591211
94ATM0.30351939
95PRKACG0.30043116
96MAP2K10.29892926
97MTOR0.27127616
98PRKAA10.27046539
99STK390.26675881
100SGK20.26109661

Predicted pathways (KEGG)

RankGene SetZ-score
1Long-term depression_Homo sapiens_hsa047304.22419969
2Nicotine addiction_Homo sapiens_hsa050333.69086288
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047233.65235899
4GABAergic synapse_Homo sapiens_hsa047273.60703090
5Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049613.53074354
6Morphine addiction_Homo sapiens_hsa050323.14978034
7Glutamatergic synapse_Homo sapiens_hsa047243.09826905
8Long-term potentiation_Homo sapiens_hsa047202.86572187
9Circadian entrainment_Homo sapiens_hsa047132.79908259
10Taste transduction_Homo sapiens_hsa047422.51002548
11Oxidative phosphorylation_Homo sapiens_hsa001902.13344665
12Phosphatidylinositol signaling system_Homo sapiens_hsa040702.06838574
13Dopaminergic synapse_Homo sapiens_hsa047282.02549049
14Alzheimers disease_Homo sapiens_hsa050101.97035111
15Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.93685116
16Salivary secretion_Homo sapiens_hsa049701.88541319
17Serotonergic synapse_Homo sapiens_hsa047261.88161822
18Pentose phosphate pathway_Homo sapiens_hsa000301.83874429
19Parkinsons disease_Homo sapiens_hsa050121.82822973
20Cholinergic synapse_Homo sapiens_hsa047251.82492164
21Gastric acid secretion_Homo sapiens_hsa049711.72089041
22Cardiac muscle contraction_Homo sapiens_hsa042601.68568152
23Aldosterone synthesis and secretion_Homo sapiens_hsa049251.66987726
24Fructose and mannose metabolism_Homo sapiens_hsa000511.61603183
25Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.59045644
26Pancreatic secretion_Homo sapiens_hsa049721.56697450
27Gap junction_Homo sapiens_hsa045401.54422337
28Renin secretion_Homo sapiens_hsa049241.46649351
29Synaptic vesicle cycle_Homo sapiens_hsa047211.44707947
30Huntingtons disease_Homo sapiens_hsa050161.44189365
31Thyroid hormone synthesis_Homo sapiens_hsa049181.43584298
32Calcium signaling pathway_Homo sapiens_hsa040201.38554527
33Amphetamine addiction_Homo sapiens_hsa050311.37181067
34Estrogen signaling pathway_Homo sapiens_hsa049151.32560211
35* Nitrogen metabolism_Homo sapiens_hsa009101.24919052
36Olfactory transduction_Homo sapiens_hsa047401.21912040
37Circadian rhythm_Homo sapiens_hsa047101.20974957
38Insulin secretion_Homo sapiens_hsa049111.18798535
39Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.13460974
40Oocyte meiosis_Homo sapiens_hsa041141.10423877
41Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.98681598
42Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.90785136
43Pyruvate metabolism_Homo sapiens_hsa006200.88275467
44Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.86373347
45Renin-angiotensin system_Homo sapiens_hsa046140.85393856
46cGMP-PKG signaling pathway_Homo sapiens_hsa040220.81833428
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.77075587
48Carbon metabolism_Homo sapiens_hsa012000.76802071
49Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.75975055
50Oxytocin signaling pathway_Homo sapiens_hsa049210.73807315
51Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.73233220
52Biosynthesis of amino acids_Homo sapiens_hsa012300.66411436
53Collecting duct acid secretion_Homo sapiens_hsa049660.64275225
54Cocaine addiction_Homo sapiens_hsa050300.62408146
55African trypanosomiasis_Homo sapiens_hsa051430.59834844
56Protein export_Homo sapiens_hsa030600.59762796
57Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.58890049
58Glioma_Homo sapiens_hsa052140.57950164
59Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.55887095
60GnRH signaling pathway_Homo sapiens_hsa049120.55230604
61Type II diabetes mellitus_Homo sapiens_hsa049300.52670809
62Choline metabolism in cancer_Homo sapiens_hsa052310.51221582
63Glycerophospholipid metabolism_Homo sapiens_hsa005640.51091333
64Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.47821790
65Glycerolipid metabolism_Homo sapiens_hsa005610.45280191
66Inositol phosphate metabolism_Homo sapiens_hsa005620.45082401
67mTOR signaling pathway_Homo sapiens_hsa041500.44798982
68Fatty acid elongation_Homo sapiens_hsa000620.44355964
69Melanogenesis_Homo sapiens_hsa049160.43803979
70Glucagon signaling pathway_Homo sapiens_hsa049220.43304738
71Mineral absorption_Homo sapiens_hsa049780.40896240
72Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.39914120
73Prion diseases_Homo sapiens_hsa050200.39621773
74Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.35976976
75Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.34901091
76Alcoholism_Homo sapiens_hsa050340.34053344
77cAMP signaling pathway_Homo sapiens_hsa040240.32523376
78Non-small cell lung cancer_Homo sapiens_hsa052230.32025293
79Phospholipase D signaling pathway_Homo sapiens_hsa040720.31525934
80Thyroid hormone signaling pathway_Homo sapiens_hsa049190.29396052
81Folate biosynthesis_Homo sapiens_hsa007900.28119572
82VEGF signaling pathway_Homo sapiens_hsa043700.28063810
83ErbB signaling pathway_Homo sapiens_hsa040120.26576457
84Fatty acid biosynthesis_Homo sapiens_hsa000610.25128436
85Regulation of autophagy_Homo sapiens_hsa041400.24219569
86Dorso-ventral axis formation_Homo sapiens_hsa043200.18642035
87Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.17288946
88Vibrio cholerae infection_Homo sapiens_hsa051100.16796592
89Fatty acid metabolism_Homo sapiens_hsa012120.15515021
90MAPK signaling pathway_Homo sapiens_hsa040100.14733799
91Cysteine and methionine metabolism_Homo sapiens_hsa002700.13853133
92Vitamin B6 metabolism_Homo sapiens_hsa007500.13494965
93Ras signaling pathway_Homo sapiens_hsa040140.12950941
94Carbohydrate digestion and absorption_Homo sapiens_hsa049730.12187397
95Butanoate metabolism_Homo sapiens_hsa006500.10815213
96Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.10738595
97Sphingolipid signaling pathway_Homo sapiens_hsa040710.08752911
98Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.07913210
99Metabolic pathways_Homo sapiens_hsa011000.07596685
100Cell cycle_Homo sapiens_hsa041100.06093797

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