CA7

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: Carbonic anhydrases are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. The cytosolic protein encoded by this gene is predominantly expressed in the salivary glands. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of respiratory burst (GO:0060267)6.94674496
2sulfate transmembrane transport (GO:1902358)6.68988413
3regulation of guanylate cyclase activity (GO:0031282)5.89965859
4sodium ion export (GO:0071436)5.84256622
5cellular potassium ion homeostasis (GO:0030007)5.52406940
6sulfate transport (GO:0008272)5.44522695
7oligosaccharide biosynthetic process (GO:0009312)5.14105831
8response to histamine (GO:0034776)5.04291762
9regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)5.00451119
10sperm capacitation (GO:0048240)4.97562060
11regulation of respiratory burst (GO:0060263)4.85627295
12cellular sodium ion homeostasis (GO:0006883)4.76759430
13cGMP-mediated signaling (GO:0019934)4.74974526
14glomerular filtration (GO:0003094)4.60859039
15sodium ion homeostasis (GO:0055078)4.55132125
16receptor guanylyl cyclase signaling pathway (GO:0007168)4.53150727
17calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)4.49818268
18cerebellar granule cell differentiation (GO:0021707)4.49724544
19renal system process involved in regulation of blood volume (GO:0001977)4.40794042
20intestinal absorption (GO:0050892)4.39165451
21* bicarbonate transport (GO:0015701)4.28890726
22positive regulation of guanylate cyclase activity (GO:0031284)4.25844827
23regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)4.21657823
24endocrine process (GO:0050886)4.21657823
25regulation of systemic arterial blood pressure by hormone (GO:0001990)4.21657823
26renal filtration (GO:0097205)4.14894073
27short-term memory (GO:0007614)4.13600631
28NADH metabolic process (GO:0006734)4.09008358
29transcytosis (GO:0045056)3.89207896
30regulation of cGMP biosynthetic process (GO:0030826)3.87158107
31glucocorticoid biosynthetic process (GO:0006704)3.83552773
32renal system process involved in regulation of systemic arterial blood pressure (GO:0003071)3.76601295
33regulation of intracellular pH (GO:0051453)3.75655617
34cellular monovalent inorganic cation homeostasis (GO:0030004)3.73526204
35nucleoside diphosphate biosynthetic process (GO:0009133)3.68496929
36fructose metabolic process (GO:0006000)3.67326496
37cellular glucuronidation (GO:0052695)3.67182231
38regulation of vitamin metabolic process (GO:0030656)3.65591355
39membrane hyperpolarization (GO:0060081)3.63788977
40cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.61736906
41regulation of systemic arterial blood pressure (GO:0003073)3.60270592
42bundle of His cell to Purkinje myocyte communication (GO:0086069)3.56674450
43response to acidic pH (GO:0010447)3.54032683
44regulation of cholesterol homeostasis (GO:2000188)3.50947082
45cellular response to pH (GO:0071467)3.49188449
46glucuronate metabolic process (GO:0019585)3.47352103
47uronic acid metabolic process (GO:0006063)3.47352103
48positive regulation of response to oxidative stress (GO:1902884)3.41016133
49positive regulation of cellular response to oxidative stress (GO:1900409)3.41016133
50regulation of cellular pH (GO:0030641)3.40759680
51positive regulation of fatty acid beta-oxidation (GO:0032000)3.35670009
52gamma-aminobutyric acid signaling pathway (GO:0007214)3.29423025
53bile acid and bile salt transport (GO:0015721)3.29209617
54monovalent inorganic cation homeostasis (GO:0055067)3.28519116
55* one-carbon metabolic process (GO:0006730)3.28428928
56purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.27578998
573-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.27578998
58cGMP metabolic process (GO:0046068)3.27387593
59cellular response to ammonium ion (GO:0071242)3.26026604
60chloride transmembrane transport (GO:1902476)3.25774931
61glutamate secretion (GO:0014047)3.25008179
62positive regulation of pseudopodium assembly (GO:0031274)3.24679622
63ionotropic glutamate receptor signaling pathway (GO:0035235)3.23427003
64cell communication involved in cardiac conduction (GO:0086065)3.22234601
65positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.20219990
66ethanol oxidation (GO:0006069)3.20036601
67phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)3.18466699
68synaptic vesicle exocytosis (GO:0016079)3.18037866
69sphingomyelin metabolic process (GO:0006684)3.16619041
70synaptic vesicle docking involved in exocytosis (GO:0016081)3.15003030
71labyrinthine layer development (GO:0060711)3.14288390
72inorganic anion transmembrane transport (GO:0098661)3.12995450
73regulation of cGMP metabolic process (GO:0030823)3.10227808
74chloride transport (GO:0006821)3.08469760
75O-glycan processing (GO:0016266)3.08202684
76receptor recycling (GO:0001881)3.07956315
77glucocorticoid metabolic process (GO:0008211)3.06897273
78potassium ion homeostasis (GO:0055075)3.06575544
79actin filament depolymerization (GO:0030042)3.06191481
80cerebellar Purkinje cell layer development (GO:0021680)3.05960295
81cerebellar Purkinje cell differentiation (GO:0021702)3.05712279
82regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.05286285
83sulfur amino acid catabolic process (GO:0000098)3.04013799
84synaptic vesicle maturation (GO:0016188)3.03741968
85glycosylceramide metabolic process (GO:0006677)3.02168698
86positive regulation of dendritic spine morphogenesis (GO:0061003)2.98418455
87cardiac conduction (GO:0061337)2.97209926
88membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.96118338
89cell communication by electrical coupling (GO:0010644)2.90793373
90regulation of pH (GO:0006885)2.89277382
91positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.88815472
92regulation of short-term neuronal synaptic plasticity (GO:0048172)2.87249460
93sulfur compound transport (GO:0072348)2.86789736
94flavonoid metabolic process (GO:0009812)2.86336401
95regulation of pseudopodium assembly (GO:0031272)2.85272198
96cGMP biosynthetic process (GO:0006182)2.84928411
97prepulse inhibition (GO:0060134)2.84329396
98diacylglycerol metabolic process (GO:0046339)2.83633411
99membrane repolarization (GO:0086009)2.83594933
100regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.82133196

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1CDX2_20551321_ChIP-Seq_CACO-2_Human5.26488920
2CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human4.24037854
3EZH2_22144423_ChIP-Seq_EOC_Human2.64992149
4DROSHA_22980978_ChIP-Seq_HELA_Human2.61683380
5SOX2_27498859_Chip-Seq_STOMACH_Mouse2.45942582
6CDX2_19796622_ChIP-Seq_MESCs_Mouse2.30111475
7THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.29717387
8ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.20869606
9SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.15391744
10PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.11044133
11MTF2_20144788_ChIP-Seq_MESCs_Mouse2.02874656
12SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.01593348
13MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.00662916
14SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.97494414
15NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.97337133
16ESR2_21235772_ChIP-Seq_MCF-7_Human1.91677943
17SOX2_20726797_ChIP-Seq_SW620_Human1.89948502
18GATA1_26923725_Chip-Seq_HPCs_Mouse1.88268725
19RNF2_18974828_ChIP-Seq_MESCs_Mouse1.84703611
20EZH2_18974828_ChIP-Seq_MESCs_Mouse1.84703611
21SRY_22984422_ChIP-ChIP_TESTIS_Rat1.76993315
22JARID2_20075857_ChIP-Seq_MESCs_Mouse1.76696256
23FOXO3_23340844_ChIP-Seq_DLD1_Human1.76506011
24FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.76476419
25JARID2_20064375_ChIP-Seq_MESCs_Mouse1.76313394
26GATA6_25053715_ChIP-Seq_YYC3_Human1.74294686
27CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.72940850
28EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.69806902
29BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.68453877
30ZNF263_19887448_ChIP-Seq_K562_Human1.67988445
31SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.67741660
32SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.66490787
33GATA4_25053715_ChIP-Seq_YYC3_Human1.65764915
34PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.65440856
35REST_21632747_ChIP-Seq_MESCs_Mouse1.64929311
36FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.64086249
37IKZF1_21737484_ChIP-ChIP_HCT116_Human1.63945712
38TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.61703705
39EZH2_27294783_Chip-Seq_ESCs_Mouse1.60183611
40RARB_27405468_Chip-Seq_BRAIN_Mouse1.59901921
41ESR1_21235772_ChIP-Seq_MCF-7_Human1.58756337
42SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.57135772
43VDR_22108803_ChIP-Seq_LS180_Human1.56798293
44ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.56486399
45TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.51805169
46PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.50193940
47SUZ12_27294783_Chip-Seq_ESCs_Mouse1.43516327
48JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.39809890
49POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.36326887
50HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.30048836
51TCF4_18268006_ChIP-ChIP_LS174T_Human1.29017217
52ERG_21242973_ChIP-ChIP_JURKAT_Human1.27805094
53SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.22423964
54RACK7_27058665_Chip-Seq_MCF-7_Human1.20252399
55PPARA_22158963_ChIP-Seq_LIVER_Mouse1.19230901
56LXR_22292898_ChIP-Seq_THP-1_Human1.18883021
57TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.18438376
58BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.17966224
59VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.17857283
60SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.16820671
61GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.15748295
62PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.15215479
63KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.14083026
64CDX2_22108803_ChIP-Seq_LS180_Human1.12829301
65EED_16625203_ChIP-ChIP_MESCs_Mouse1.12659278
66STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.11339958
67ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.11186277
68KLF5_25053715_ChIP-Seq_YYC3_Human1.10095441
69RXR_22158963_ChIP-Seq_LIVER_Mouse1.07616945
70TET1_21451524_ChIP-Seq_MESCs_Mouse1.07331460
71REST_18959480_ChIP-ChIP_MESCs_Mouse1.07078308
72KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.01884344
73KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.01884344
74KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.01884344
75RAD21_21589869_ChIP-Seq_MESCs_Mouse1.00698957
76AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.97628150
77CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.97189856
78CTCF_27219007_Chip-Seq_Bcells_Human0.96982079
79FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.96924316
80EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.95870578
81FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.95692671
82RNF2_27304074_Chip-Seq_ESCs_Mouse0.94831080
83RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.93866974
84EZH2_27304074_Chip-Seq_ESCs_Mouse0.93466769
85KDM2B_26808549_Chip-Seq_K562_Human0.92701409
86DNAJC2_21179169_ChIP-ChIP_NT2_Human0.92326189
87ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.91686202
88TET1_21490601_ChIP-Seq_MESCs_Mouse0.91530519
89LXR_22158963_ChIP-Seq_LIVER_Mouse0.89709415
90CREB1_26743006_Chip-Seq_LNCaP_Human0.89468560
91TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88664663
92OCT4_18692474_ChIP-Seq_MEFs_Mouse0.87605990
93SA1_27219007_Chip-Seq_Bcells_Human0.87401334
94CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.86992880
95ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.86948705
96FOXA1_25552417_ChIP-Seq_VCAP_Human0.86573604
97BCAT_22108803_ChIP-Seq_LS180_Human0.85579636
98MYC_19915707_ChIP-ChIP_AK7_Human0.85572252
99KAP1_22055183_ChIP-Seq_ESCs_Mouse0.85298716
100ZFP281_18757296_ChIP-ChIP_E14_Mouse0.85055495

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010234_abnormal_vibrissa_follicle5.20862123
2MP0002139_abnormal_hepatobiliary_system4.99051160
3MP0004043_abnormal_pH_regulation3.68191217
4MP0009379_abnormal_foot_pigmentation3.43783271
5MP0004859_abnormal_synaptic_plasticity3.21110935
6MP0004270_analgesia3.10658380
7MP0003866_abnormal_defecation3.04708404
8MP0001765_abnormal_ion_homeostasis2.97326523
9MP0003880_abnormal_central_pattern2.88927370
10MP0001664_abnormal_digestion2.86346988
11MP0003879_abnormal_hair_cell2.82984447
12MP0003868_abnormal_feces_composition2.67563670
13MP0004147_increased_porphyrin_level2.64004149
14MP0005085_abnormal_gallbladder_physiolo2.49661257
15MP0002272_abnormal_nervous_system2.45911239
16MP0004742_abnormal_vestibular_system2.45333344
17MP0010352_gastrointestinal_tract_polyps2.36979171
18MP0003635_abnormal_synaptic_transmissio2.30913283
19MP0009046_muscle_twitch2.23522556
20MP0008569_lethality_at_weaning2.23417738
21MP0001188_hyperpigmentation1.99218464
22MP0000490_abnormal_crypts_of1.99171382
23MP0002064_seizures1.98760042
24MP0010386_abnormal_urinary_bladder1.96673142
25MP0004264_abnormal_extraembryonic_tissu1.93191696
26MP0005636_abnormal_mineral_homeostasis1.86656567
27MP0001663_abnormal_digestive_system1.82533586
28MP0000477_abnormal_intestine_morphology1.82140112
29MP0001501_abnormal_sleep_pattern1.78760710
30MP0002734_abnormal_mechanical_nocicepti1.76955135
31MP0003183_abnormal_peptide_metabolism1.71432793
32MP0009745_abnormal_behavioral_response1.71094001
33MP0005365_abnormal_bile_salt1.70832750
34MP0005381_digestive/alimentary_phenotyp1.63900119
35MP0002063_abnormal_learning/memory/cond1.61611518
36MP0008872_abnormal_physiological_respon1.60365680
37MP0001440_abnormal_grooming_behavior1.56659536
38MP0002796_impaired_skin_barrier1.54386424
39MP0000566_synostosis1.54165132
40MP0001486_abnormal_startle_reflex1.52579164
41MP0005409_darkened_coat_color1.51909183
42MP0005670_abnormal_white_adipose1.50258631
43MP0005166_decreased_susceptibility_to1.47766426
44MP0001968_abnormal_touch/_nociception1.46709825
45MP0001666_abnormal_nutrient_absorption1.43928079
46MP0010155_abnormal_intestine_physiology1.41505760
47MP0001485_abnormal_pinna_reflex1.40601243
48MP0003283_abnormal_digestive_organ1.40473446
49MP0000230_abnormal_systemic_arterial1.37701676
50MP0008875_abnormal_xenobiotic_pharmacok1.36559537
51MP0001970_abnormal_pain_threshold1.35247856
52MP0002572_abnormal_emotion/affect_behav1.28542483
53MP0006035_abnormal_mitochondrial_morpho1.25839560
54MP0002138_abnormal_hepatobiliary_system1.25037882
55MP0009780_abnormal_chondrocyte_physiolo1.23195008
56MP0004484_altered_response_of1.21242735
57MP0002067_abnormal_sensory_capabilities1.19345993
58MP0008874_decreased_physiological_sensi1.19312975
59MP0000537_abnormal_urethra_morphology1.17504001
60MP0002733_abnormal_thermal_nociception1.16790082
61MP0000678_abnormal_parathyroid_gland1.11121507
62MP0000462_abnormal_digestive_system1.10927851
63MP0000013_abnormal_adipose_tissue1.05353824
64MP0001756_abnormal_urination1.05144203
65MP0004215_abnormal_myocardial_fiber1.01217636
66MP0002735_abnormal_chemical_nociception0.99633368
67MP0005360_urolithiasis0.98716810
68MP0002736_abnormal_nociception_after0.98646301
69MP0002822_catalepsy0.98005544
70MP0003329_amyloid_beta_deposits0.96941214
71MP0005423_abnormal_somatic_nervous0.93250209
72MP0001873_stomach_inflammation0.93238255
73MP0002277_abnormal_respiratory_mucosa0.82510286
74MP0004019_abnormal_vitamin_homeostasis0.81760598
75MP0005501_abnormal_skin_physiology0.79436292
76MP0002066_abnormal_motor_capabilities/c0.78649172
77MP0008004_abnormal_stomach_pH0.76013737
78MP0005595_abnormal_vascular_smooth0.72554469
79MP0003693_abnormal_embryo_hatching0.72019721
80MP0005165_increased_susceptibility_to0.69109690
81MP0010329_abnormal_lipoprotein_level0.68656628
82MP0005666_abnormal_adipose_tissue0.68046105
83MP0002009_preneoplasia0.67039285
84MP0002098_abnormal_vibrissa_morphology0.65861699
85MP0002557_abnormal_social/conspecific_i0.64802904
86MP0009643_abnormal_urine_homeostasis0.64295044
87MP0002229_neurodegeneration0.63905285
88MP0003137_abnormal_impulse_conducting0.63125562
89MP0001984_abnormal_olfaction0.63036844
90MP0001849_ear_inflammation0.57834633
91MP0003567_abnormal_fetal_cardiomyocyte0.57686351
92MP0002118_abnormal_lipid_homeostasis0.56810131
93MP0002876_abnormal_thyroid_physiology0.56501663
94MP0002136_abnormal_kidney_physiology0.56342562
95MP0000470_abnormal_stomach_morphology0.55445736
96MP0005310_abnormal_salivary_gland0.54535813
97MP0002069_abnormal_eating/drinking_beha0.53004316
98MP0006036_abnormal_mitochondrial_physio0.52305557
99MP0000920_abnormal_myelination0.52037302
100MP0000538_abnormal_urinary_bladder0.50759812

Predicted human phenotypes

RankGene SetZ-score
1Metabolic alkalosis (HP:0200114)7.95181702
2Abnormality of renin-angiotensin system (HP:0000847)7.10061570
3Decreased circulating renin level (HP:0003351)7.08571319
4Abnormality of chloride homeostasis (HP:0011422)5.63319008
5Hyperaldosteronism (HP:0000859)5.32931117
6Myokymia (HP:0002411)5.12335812
7Atonic seizures (HP:0010819)5.07516309
8Alkalosis (HP:0001948)5.05697628
9Flat acetabular roof (HP:0003180)5.02963663
10Action tremor (HP:0002345)4.67429879
11Febrile seizures (HP:0002373)4.59346123
12Hyponatremia (HP:0002902)4.23178345
13Focal motor seizures (HP:0011153)4.10534139
14Dysmetric saccades (HP:0000641)3.73386415
15Hypokalemia (HP:0002900)3.72025595
16Neonatal short-limb short stature (HP:0008921)3.69925592
17Flattened epiphyses (HP:0003071)3.55885414
18Abnormality of the distal phalanx of the thumb (HP:0009617)3.53523541
19Abnormality of potassium homeostasis (HP:0011042)3.43152162
20Flat capital femoral epiphysis (HP:0003370)3.38910365
21Scanning speech (HP:0002168)3.33278691
22Abnormality of sodium homeostasis (HP:0010931)3.30750895
23Absence seizures (HP:0002121)3.30076153
24Ileus (HP:0002595)3.27135353
25Spinal cord compression (HP:0002176)3.21642760
26Abdominal distention (HP:0003270)3.20428397
27Hyperkalemia (HP:0002153)3.16731014
28Right ventricular cardiomyopathy (HP:0011663)3.07559371
29Syncope (HP:0001279)2.99180369
30Epileptic encephalopathy (HP:0200134)2.93951017
31Intrahepatic cholestasis (HP:0001406)2.92513998
32Adrenal overactivity (HP:0002717)2.89957351
33Abnormal tarsal ossification (HP:0008369)2.83713644
34Dysdiadochokinesis (HP:0002075)2.83568632
35Impaired vibration sensation in the lower limbs (HP:0002166)2.80201005
36Dysmetria (HP:0001310)2.79265339
37Horizontal nystagmus (HP:0000666)2.78345562
38Symphalangism affecting the phalanges of the hand (HP:0009773)2.76011342
39Pili torti (HP:0003777)2.75617106
40Visceral angiomatosis (HP:0100761)2.69151678
41Abnormality of monocarboxylic acid metabolism (HP:0010996)2.69103301
42Intention tremor (HP:0002080)2.66893394
43Focal seizures (HP:0007359)2.65880032
44Abnormality of glutamine family amino acid metabolism (HP:0010902)2.56724157
45Dialeptic seizures (HP:0011146)2.54605872
46Ankle clonus (HP:0011448)2.51634220
47Abnormality of the 1st metacarpal (HP:0010009)2.46115432
48Breech presentation (HP:0001623)2.46006661
49Hemangiomatosis (HP:0007461)2.41482319
50Abnormality of the vitamin B12 metabolism (HP:0004341)2.40331214
51Conjugated hyperbilirubinemia (HP:0002908)2.32858347
52Progressive cerebellar ataxia (HP:0002073)2.32437530
53Postural tremor (HP:0002174)2.25335765
54Irregular epiphyses (HP:0010582)2.24286412
55Vertebral clefting (HP:0008428)2.23984361
56Large earlobe (HP:0009748)2.19446587
57Abnormal cartilage morphology (HP:0002763)2.18871618
58Abnormality of vitamin B metabolism (HP:0004340)2.17571826
59Abnormality of carpal bone ossification (HP:0006257)2.16989234
60Hemorrhage of the eye (HP:0011885)2.16731228
61Hyperparathyroidism (HP:0000843)2.14582304
62Ventricular fibrillation (HP:0001663)2.14040925
63Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)2.12632503
64Bundle branch block (HP:0011710)2.04816234
65Abnormality of magnesium homeostasis (HP:0004921)2.01072157
66Aplasia/Hypoplasia of the vertebrae (HP:0008515)2.00017695
67Vertebral hypoplasia (HP:0008417)2.00017695
68Hyperactive renin-angiotensin system (HP:0000841)10.1328034
69Hoarse voice (HP:0001609)1.98198367
70Confusion (HP:0001289)1.94334998
71Congenital sensorineural hearing impairment (HP:0008527)1.93619847
72Chronic bronchitis (HP:0004469)1.93432947
73Dehydration (HP:0001944)1.90827363
74Truncal ataxia (HP:0002078)1.90341079
75Abnormality of vitamin metabolism (HP:0100508)1.88904100
76Gaze-evoked nystagmus (HP:0000640)1.85618916
77Abnormal hair laboratory examination (HP:0003328)1.85407701
78Sensorimotor neuropathy (HP:0007141)1.85185879
79Abnormality of saccadic eye movements (HP:0000570)1.82160241
80Generalized tonic-clonic seizures (HP:0002069)1.80693360
81Abnormal biliary tract morphology (HP:0012440)1.79917986
82Abnormality of small intestinal villus morphology (HP:0011472)1.79449689
83Villous atrophy (HP:0011473)1.79449689
84Short phalanx of the thumb (HP:0009660)1.78592315
85Abnormal vertebral ossification (HP:0100569)1.74100689
86Fat malabsorption (HP:0002630)1.73922097
87Increased circulating renin level (HP:0000848)1.73685907
88Distal lower limb amyotrophy (HP:0008944)1.73083323
89Renal tubular acidosis (HP:0001947)1.72822188
90Abnormal mitochondria in muscle tissue (HP:0008316)1.72283399
91Renal salt wasting (HP:0000127)1.69999574
92Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)1.69301578
93Short middle phalanx of finger (HP:0005819)1.67476485
94Abnormality of proline metabolism (HP:0010907)1.66942579
95Hydroxyprolinuria (HP:0003080)1.66942579
96Abnormality of dicarboxylic acid metabolism (HP:0010995)1.66763128
97Dicarboxylic aciduria (HP:0003215)1.66763128
98Acute necrotizing encephalopathy (HP:0006965)1.64229630
99Aplasia/hypoplasia of the femur (HP:0005613)1.63477578
100Abnormality of the phalanges of the hallux (HP:0010057)1.62768305

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA24.95097009
2ACVR1B4.84926707
3MST1R4.66609839
4LMTK24.37010883
5RIPK14.15803341
6PIK3CA4.02720533
7MAP3K123.85752795
8EPHA43.72895078
9GRK53.01118707
10PRKG22.49188412
11MYLK1.79033701
12TESK11.77809627
13PTK61.72468545
14MET1.68525512
15RIPK41.67664982
16EPHB21.65407916
17NTRK31.53696052
18ARAF1.53520089
19DAPK21.52717829
20STK391.50413698
21WNK41.49074150
22DAPK11.48580785
23MAP3K91.46844502
24PRPF4B1.39092926
25OXSR11.28544780
26MST41.27913022
27MINK11.24358080
28PDK11.10256620
29TESK21.06850738
30MAP3K101.06808226
31KSR20.98415348
32PINK10.97665923
33PAK40.96421350
34TTK0.94647119
35ERN10.93704129
36CASK0.87757924
37CAMK2D0.85359251
38CAMKK10.84928508
39PAK60.83026455
40PDPK10.78318915
41CDK50.77374559
42CAMK2A0.73825300
43CDK190.73642621
44MAP3K10.71850841
45TNIK0.71639093
46ERBB20.69819316
47WNK10.69017112
48PRKCA0.68368071
49DAPK30.68076810
50BRAF0.68048367
51MAP3K110.65517625
52PDK20.61689633
53CSNK1A10.60535568
54ABL20.57158941
55STK240.56617690
56CDK180.56202331
57CDK150.55916953
58MAP3K20.55721722
59FYN0.55666402
60PRKD30.55345956
61NTRK10.55185081
62NME10.53453127
63CDK11A0.52686231
64CDK140.52331479
65MAP2K60.51579195
66MAP2K20.51541028
67CAMK2B0.51119670
68CAMK2G0.50849860
69TAOK10.49592792
70SMG10.49514720
71DDR20.49421277
72PRKCG0.48470205
73SRC0.47128223
74PRKG10.46003102
75UHMK10.45144647
76CAMKK20.44458374
77CSNK1G20.43144790
78PRKACG0.41186667
79NEK60.40030299
80PHKG10.39465513
81PHKG20.39465513
82ROCK20.39433378
83LIMK10.38898821
84MAP2K10.34980938
85PTK20.32926487
86PRKCB0.32415383
87CSNK1G30.29598352
88ILK0.26736967
89PRKCI0.25231135
90ROCK10.22324265
91KSR10.21744651
92STK160.20963691
93CSNK1E0.20022466
94SGK10.19921171
95NME20.19587102
96PRKACA0.19556197
97DMPK0.19550100
98BMX0.19262229
99MAP3K130.19240230
100STK110.18481897

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nitrogen metabolism_Homo sapiens_hsa009104.72325356
2Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049644.63740490
3Sulfur metabolism_Homo sapiens_hsa009204.35141949
4Cyanoamino acid metabolism_Homo sapiens_hsa004602.81606741
5Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.68288277
6Mineral absorption_Homo sapiens_hsa049782.61858244
7Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.56165193
8Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049602.32313782
9Pancreatic secretion_Homo sapiens_hsa049722.26179429
10Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.98233577
11Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.92962181
12Long-term depression_Homo sapiens_hsa047301.81931770
13Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.74172688
14Nicotine addiction_Homo sapiens_hsa050331.59434869
15Long-term potentiation_Homo sapiens_hsa047201.58074318
16Fat digestion and absorption_Homo sapiens_hsa049751.56929060
17Bile secretion_Homo sapiens_hsa049761.45590310
18GABAergic synapse_Homo sapiens_hsa047271.44074171
19Gastric acid secretion_Homo sapiens_hsa049711.43649675
20Fructose and mannose metabolism_Homo sapiens_hsa000511.41425294
21Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.40214324
22Renin secretion_Homo sapiens_hsa049241.39147297
23Glutamatergic synapse_Homo sapiens_hsa047241.34217378
24Caffeine metabolism_Homo sapiens_hsa002321.34203015
25Pentose and glucuronate interconversions_Homo sapiens_hsa000401.33063626
26Circadian entrainment_Homo sapiens_hsa047131.32440990
27Histidine metabolism_Homo sapiens_hsa003401.32069313
28Taste transduction_Homo sapiens_hsa047421.29824552
29Morphine addiction_Homo sapiens_hsa050321.29123298
30Renin-angiotensin system_Homo sapiens_hsa046141.26693247
31Arginine biosynthesis_Homo sapiens_hsa002201.24503149
32Sulfur relay system_Homo sapiens_hsa041221.22196740
33Synaptic vesicle cycle_Homo sapiens_hsa047211.18500620
34Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.17689385
35Amphetamine addiction_Homo sapiens_hsa050311.16749293
362-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.15486169
37Salivary secretion_Homo sapiens_hsa049701.14178521
38Insulin secretion_Homo sapiens_hsa049111.10050545
39Alzheimers disease_Homo sapiens_hsa050101.06836141
40Phosphatidylinositol signaling system_Homo sapiens_hsa040701.06713998
41Arginine and proline metabolism_Homo sapiens_hsa003301.05959558
42Aldosterone synthesis and secretion_Homo sapiens_hsa049251.04571570
43PPAR signaling pathway_Homo sapiens_hsa033201.03797366
44Fatty acid degradation_Homo sapiens_hsa000711.03235939
45Dopaminergic synapse_Homo sapiens_hsa047281.00169963
46Retinol metabolism_Homo sapiens_hsa008300.95690144
47Oxidative phosphorylation_Homo sapiens_hsa001900.94675932
48Pyruvate metabolism_Homo sapiens_hsa006200.94590615
49Cholinergic synapse_Homo sapiens_hsa047250.94257269
50Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.92618270
51Gap junction_Homo sapiens_hsa045400.90182861
52Parkinsons disease_Homo sapiens_hsa050120.88613505
53Tight junction_Homo sapiens_hsa045300.88540074
54Glycerolipid metabolism_Homo sapiens_hsa005610.88306068
55Serotonergic synapse_Homo sapiens_hsa047260.85594239
56Cardiac muscle contraction_Homo sapiens_hsa042600.85570643
57Drug metabolism - other enzymes_Homo sapiens_hsa009830.84684437
58Thyroid hormone synthesis_Homo sapiens_hsa049180.84044275
59Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.80504082
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.72419273
61Chemical carcinogenesis_Homo sapiens_hsa052040.71081083
62Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.70993188
63Calcium signaling pathway_Homo sapiens_hsa040200.69810949
64Steroid hormone biosynthesis_Homo sapiens_hsa001400.69421284
65Starch and sucrose metabolism_Homo sapiens_hsa005000.67916456
66Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.67182591
67Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.66218154
68Leukocyte transendothelial migration_Homo sapiens_hsa046700.65094481
69Cocaine addiction_Homo sapiens_hsa050300.64842000
70Carbon metabolism_Homo sapiens_hsa012000.57667768
71Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.57393930
72GnRH signaling pathway_Homo sapiens_hsa049120.53911605
73Huntingtons disease_Homo sapiens_hsa050160.51865191
74Butanoate metabolism_Homo sapiens_hsa006500.49902875
75Pentose phosphate pathway_Homo sapiens_hsa000300.49075112
76Vascular smooth muscle contraction_Homo sapiens_hsa042700.48527206
77Protein digestion and absorption_Homo sapiens_hsa049740.45659136
78Collecting duct acid secretion_Homo sapiens_hsa049660.45326357
79Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.44904838
80Maturity onset diabetes of the young_Homo sapiens_hsa049500.43728235
81Estrogen signaling pathway_Homo sapiens_hsa049150.42657343
82Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.41671164
83Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.40103838
84Propanoate metabolism_Homo sapiens_hsa006400.38716454
85Galactose metabolism_Homo sapiens_hsa000520.38325545
86cGMP-PKG signaling pathway_Homo sapiens_hsa040220.35889670
87Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.35770566
88Vitamin digestion and absorption_Homo sapiens_hsa049770.35468973
89Tryptophan metabolism_Homo sapiens_hsa003800.34841244
90Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.34810667
91Fatty acid metabolism_Homo sapiens_hsa012120.33921366
92Glycerophospholipid metabolism_Homo sapiens_hsa005640.33581747
93Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.33565507
94Glutathione metabolism_Homo sapiens_hsa004800.31890796
95Cysteine and methionine metabolism_Homo sapiens_hsa002700.30756669
96Sphingolipid metabolism_Homo sapiens_hsa006000.29705094
97Phenylalanine metabolism_Homo sapiens_hsa003600.29055112
98Biosynthesis of amino acids_Homo sapiens_hsa012300.28926351
99Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.28836774
100Vibrio cholerae infection_Homo sapiens_hsa051100.28829635

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