CA6

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 is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)5.64231907
2DNA deamination (GO:0045006)4.83333950
3response to pheromone (GO:0019236)4.56873267
4nucleobase catabolic process (GO:0046113)4.51560243
5L-fucose catabolic process (GO:0042355)4.31031660
6fucose catabolic process (GO:0019317)4.31031660
7L-fucose metabolic process (GO:0042354)4.31031660
8cellular ketone body metabolic process (GO:0046950)3.63473022
9piRNA metabolic process (GO:0034587)3.58897015
10axoneme assembly (GO:0035082)3.54355122
11detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.52757594
12water-soluble vitamin biosynthetic process (GO:0042364)3.50896197
13respiratory chain complex IV assembly (GO:0008535)3.46800225
14platelet dense granule organization (GO:0060155)3.45246909
15epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.42650179
16phosphatidylinositol acyl-chain remodeling (GO:0036149)3.32336317
17multicellular organism reproduction (GO:0032504)3.30599462
18ketone body metabolic process (GO:1902224)3.30477522
19indolalkylamine metabolic process (GO:0006586)3.27998982
20negative regulation of telomere maintenance (GO:0032205)3.26585759
21detection of light stimulus involved in sensory perception (GO:0050962)3.22658246
22detection of light stimulus involved in visual perception (GO:0050908)3.22658246
23indole-containing compound catabolic process (GO:0042436)3.20254654
24indolalkylamine catabolic process (GO:0046218)3.20254654
25tryptophan catabolic process (GO:0006569)3.20254654
26protein polyglutamylation (GO:0018095)3.19615498
27RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.13613480
28protein-cofactor linkage (GO:0018065)3.10403355
29preassembly of GPI anchor in ER membrane (GO:0016254)3.08462993
30S-adenosylmethionine metabolic process (GO:0046500)3.07062889
31mannosylation (GO:0097502)3.06870230
32regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.05383745
33gamma-aminobutyric acid transport (GO:0015812)3.02423284
34kynurenine metabolic process (GO:0070189)3.02278166
35neural tube formation (GO:0001841)3.01437498
36protein complex biogenesis (GO:0070271)2.98691534
37cytochrome complex assembly (GO:0017004)2.96137325
38protein K11-linked deubiquitination (GO:0035871)2.95093755
39adaptation of signaling pathway (GO:0023058)2.93110518
40mitochondrial respiratory chain complex I assembly (GO:0032981)2.92773193
41NADH dehydrogenase complex assembly (GO:0010257)2.92773193
42mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.92773193
43cytidine deamination (GO:0009972)2.89081097
44cytidine metabolic process (GO:0046087)2.89081097
45cytidine catabolic process (GO:0006216)2.89081097
46epithelial cilium movement (GO:0003351)2.87306140
47negative regulation of execution phase of apoptosis (GO:1900118)2.87224351
48kidney morphogenesis (GO:0060993)2.83196488
49tryptophan metabolic process (GO:0006568)2.82485615
50rRNA catabolic process (GO:0016075)2.81167894
51protein localization to cilium (GO:0061512)2.80656605
52retinal cone cell development (GO:0046549)2.80392796
53molting cycle (GO:0042303)2.75741843
54hair cycle (GO:0042633)2.75741843
55phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.69551799
56phosphatidylserine acyl-chain remodeling (GO:0036150)2.69336095
57reflex (GO:0060004)2.68193042
58regulation of cilium movement (GO:0003352)2.67769866
59mitochondrial respiratory chain complex assembly (GO:0033108)2.67076291
60photoreceptor cell maintenance (GO:0045494)2.66832224
61indole-containing compound metabolic process (GO:0042430)2.64600886
62regulation of sequestering of triglyceride (GO:0010889)2.63855407
63behavioral response to ethanol (GO:0048149)2.63627719
64DNA methylation involved in gamete generation (GO:0043046)2.63122019
65somite development (GO:0061053)2.62454802
66protein import into peroxisome matrix (GO:0016558)2.61949419
67positive regulation of fatty acid transport (GO:2000193)2.61841062
68cilium morphogenesis (GO:0060271)2.60759872
69primary amino compound metabolic process (GO:1901160)2.60523617
70cornea development in camera-type eye (GO:0061303)2.59634413
71oligosaccharide biosynthetic process (GO:0009312)2.59440929
72neuronal action potential (GO:0019228)2.58756202
73cellular biogenic amine catabolic process (GO:0042402)2.57232892
74amine catabolic process (GO:0009310)2.57232892
75pyrimidine nucleobase catabolic process (GO:0006208)2.54830596
76ubiquinone biosynthetic process (GO:0006744)2.54316307
77synaptic transmission, cholinergic (GO:0007271)2.52594479
78regulation of endothelial cell differentiation (GO:0045601)2.52279274
79adenosine metabolic process (GO:0046085)2.51203334
80negative regulation of mast cell activation (GO:0033004)2.49618791
81cAMP catabolic process (GO:0006198)2.49291208
82negative regulation of cytosolic calcium ion concentration (GO:0051481)2.45028244
83L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.44426105
84amino acid salvage (GO:0043102)2.43790292
85L-methionine salvage (GO:0071267)2.43790292
86L-methionine biosynthetic process (GO:0071265)2.43790292
87regulation of action potential (GO:0098900)2.43361094
88regulation of glucokinase activity (GO:0033131)2.42728458
89regulation of hexokinase activity (GO:1903299)2.42728458
90nonmotile primary cilium assembly (GO:0035058)2.42507359
91photoreceptor cell development (GO:0042461)2.42412316
92positive regulation of prostaglandin secretion (GO:0032308)2.40929932
93pyrimidine ribonucleoside catabolic process (GO:0046133)2.40914560
94regulation of rhodopsin mediated signaling pathway (GO:0022400)2.40515271
95auditory receptor cell stereocilium organization (GO:0060088)2.40064813
96inositol phosphate catabolic process (GO:0071545)2.37494528
97rhodopsin mediated signaling pathway (GO:0016056)2.37156307
98ubiquinone metabolic process (GO:0006743)2.36796160
99head development (GO:0060322)2.35720494
100phosphatidylcholine acyl-chain remodeling (GO:0036151)2.35405717

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela4.02849332
2VDR_22108803_ChIP-Seq_LS180_Human3.30424217
3GBX2_23144817_ChIP-Seq_PC3_Human2.82762628
4GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.56983095
5ZFP57_27257070_Chip-Seq_ESCs_Mouse2.43610806
6EZH2_22144423_ChIP-Seq_EOC_Human2.42120824
7POU3F2_20337985_ChIP-ChIP_501MEL_Human2.37580460
8IGF1R_20145208_ChIP-Seq_DFB_Human2.24289155
9GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.20174760
10FLI1_27457419_Chip-Seq_LIVER_Mouse2.19934496
11CTBP1_25329375_ChIP-Seq_LNCAP_Human2.03480032
12CTBP2_25329375_ChIP-Seq_LNCAP_Human1.95433488
13FUS_26573619_Chip-Seq_HEK293_Human1.95391418
14EWS_26573619_Chip-Seq_HEK293_Human1.95295113
15NOTCH1_21737748_ChIP-Seq_TLL_Human1.88891281
16HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.86797928
17TAF15_26573619_Chip-Seq_HEK293_Human1.84306135
18EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.83541977
19P300_19829295_ChIP-Seq_ESCs_Human1.81696751
20ER_23166858_ChIP-Seq_MCF-7_Human1.79260794
21RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.77190362
22PCGF2_27294783_Chip-Seq_ESCs_Mouse1.75825403
23FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.71163114
24TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.70747585
25TP53_22573176_ChIP-Seq_HFKS_Human1.69347023
26BCAT_22108803_ChIP-Seq_LS180_Human1.62364294
27CBP_20019798_ChIP-Seq_JUKART_Human1.58706642
28IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.58706642
29MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.54084496
30UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.53865548
31AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.52412458
32HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.52204108
33GABP_17652178_ChIP-ChIP_JURKAT_Human1.48824247
34SALL1_21062744_ChIP-ChIP_HESCs_Human1.47058955
35SOX2_19829295_ChIP-Seq_ESCs_Human1.46400380
36NANOG_19829295_ChIP-Seq_ESCs_Human1.46400380
37CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.41777612
38AR_25329375_ChIP-Seq_VCAP_Human1.41171370
39FOXA1_25329375_ChIP-Seq_VCAP_Human1.40441854
40FOXA1_27270436_Chip-Seq_PROSTATE_Human1.40441854
41* STAT3_23295773_ChIP-Seq_U87_Human1.39525099
42IRF8_22096565_ChIP-ChIP_GC-B_Human1.38276450
43GATA3_21878914_ChIP-Seq_MCF-7_Human1.38208917
44MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.38124849
45POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.37838944
46TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.37838944
47PCGF2_27294783_Chip-Seq_NPCs_Mouse1.37460208
48TCF4_23295773_ChIP-Seq_U87_Human1.35692686
49NR3C1_21868756_ChIP-Seq_MCF10A_Human1.34831613
50PIAS1_25552417_ChIP-Seq_VCAP_Human1.34641675
51TCF4_22108803_ChIP-Seq_LS180_Human1.33236360
52SMAD4_21799915_ChIP-Seq_A2780_Human1.33060781
53SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.32667623
54IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.31642626
55BMI1_23680149_ChIP-Seq_NPCS_Mouse1.30191946
56PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.27693893
57SUZ12_27294783_Chip-Seq_NPCs_Mouse1.26853122
58SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.26654493
59MYC_18940864_ChIP-ChIP_HL60_Human1.25443076
60PRDM14_20953172_ChIP-Seq_ESCs_Human1.25289570
61NFE2_27457419_Chip-Seq_LIVER_Mouse1.25282960
62EZH2_27294783_Chip-Seq_NPCs_Mouse1.25260065
63FOXA1_21572438_ChIP-Seq_LNCaP_Human1.24997705
64EST1_17652178_ChIP-ChIP_JURKAT_Human1.24009845
65KLF5_20875108_ChIP-Seq_MESCs_Mouse1.23504791
66SMAD3_21741376_ChIP-Seq_EPCs_Human1.23263658
67HOXB7_26014856_ChIP-Seq_BT474_Human1.23120754
68EGR1_23403033_ChIP-Seq_LIVER_Mouse1.20829585
69REST_21632747_ChIP-Seq_MESCs_Mouse1.20693772
70* AR_20517297_ChIP-Seq_VCAP_Human1.20410237
71GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.19762623
72E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.19758670
73* NCOR_22424771_ChIP-Seq_293T_Human1.19283813
74EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.18600194
75IRF1_19129219_ChIP-ChIP_H3396_Human1.16398064
76RUNX2_22187159_ChIP-Seq_PCA_Human1.16189412
77MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.15181192
78AR_21572438_ChIP-Seq_LNCaP_Human1.14960959
79CBX2_27304074_Chip-Seq_ESCs_Mouse1.13857931
80SMAD4_21741376_ChIP-Seq_EPCs_Human1.13784249
81TOP2B_26459242_ChIP-Seq_MCF-7_Human1.13651780
82ETV2_25802403_ChIP-Seq_MESCs_Mouse1.11349800
83LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.10902778
84GATA3_26560356_Chip-Seq_TH2_Human1.10202292
85FLI1_21867929_ChIP-Seq_TH2_Mouse1.09549443
86SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.06629963
87CRX_20693478_ChIP-Seq_RETINA_Mouse1.06329426
88RNF2_27304074_Chip-Seq_NSC_Mouse1.06252275
89CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.05198504
90AUTS2_25519132_ChIP-Seq_293T-REX_Human1.04506244
91KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.01478853
92OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.01330355
93CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.01106509
94GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.01063570
95VDR_23849224_ChIP-Seq_CD4+_Human1.00219750
96EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.99794191
97TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.99275697
98NANOG_18555785_Chip-Seq_ESCs_Mouse0.99258992
99* PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.98482615
100P53_22387025_ChIP-Seq_ESCs_Mouse0.98291926

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation3.19394110
2MP0008877_abnormal_DNA_methylation3.19210446
3MP0002138_abnormal_hepatobiliary_system2.75389127
4MP0001881_abnormal_mammary_gland2.59524572
5MP0003195_calcinosis2.58909397
6MP0002102_abnormal_ear_morphology2.54522303
7MP0005645_abnormal_hypothalamus_physiol2.42143492
8MP0005551_abnormal_eye_electrophysiolog2.35405149
9MP0005646_abnormal_pituitary_gland2.15763123
10MP0004885_abnormal_endolymph2.12535906
11MP0003787_abnormal_imprinting2.12038284
12MP0006072_abnormal_retinal_apoptosis2.07421589
13MP0001968_abnormal_touch/_nociception2.07301311
14MP0004043_abnormal_pH_regulation2.04795349
15MP0003011_delayed_dark_adaptation1.98852047
16MP0005075_abnormal_melanosome_morpholog1.95237616
17MP0008875_abnormal_xenobiotic_pharmacok1.85000850
18MP0008872_abnormal_physiological_respon1.81569787
19MP0002638_abnormal_pupillary_reflex1.81242673
20MP0000372_irregular_coat_pigmentation1.79044823
21MP0002837_dystrophic_cardiac_calcinosis1.77066850
22MP0001986_abnormal_taste_sensitivity1.76797590
23MP0004147_increased_porphyrin_level1.75194392
24MP0002876_abnormal_thyroid_physiology1.70819494
25MP0005174_abnormal_tail_pigmentation1.70323952
26MP0004142_abnormal_muscle_tone1.69645610
27MP0005253_abnormal_eye_physiology1.68092339
28MP0009745_abnormal_behavioral_response1.63340378
29MP0001984_abnormal_olfaction1.62293129
30MP0001501_abnormal_sleep_pattern1.60531614
31MP0003718_maternal_effect1.60092669
32MP0004742_abnormal_vestibular_system1.59451556
33MP0005084_abnormal_gallbladder_morpholo1.55334528
34MP0002928_abnormal_bile_duct1.51255728
35MP0000647_abnormal_sebaceous_gland1.51108252
36MP0009046_muscle_twitch1.50656308
37MP0002736_abnormal_nociception_after1.50157749
38MP0001485_abnormal_pinna_reflex1.47197229
39MP0000015_abnormal_ear_pigmentation1.45507829
40MP0002272_abnormal_nervous_system1.43607711
41MP0002653_abnormal_ependyma_morphology1.42642331
42MP0000427_abnormal_hair_cycle1.41094328
43MP0003880_abnormal_central_pattern1.37981719
44MP0003646_muscle_fatigue1.36538541
45MP0006292_abnormal_olfactory_placode1.31165480
46MP0000631_abnormal_neuroendocrine_gland1.28609358
47MP0001486_abnormal_startle_reflex1.26960918
48MP0005671_abnormal_response_to1.26946768
49MP0002095_abnormal_skin_pigmentation1.25086246
50MP0002163_abnormal_gland_morphology1.24678589
51MP0005410_abnormal_fertilization1.21415209
52MP0004133_heterotaxia1.17540967
53MP0006276_abnormal_autonomic_nervous1.16647747
54MP0010386_abnormal_urinary_bladder1.12309999
55MP0005377_hearing/vestibular/ear_phenot1.09598231
56MP0003878_abnormal_ear_physiology1.09598231
57MP0003252_abnormal_bile_duct1.07928654
58MP0005332_abnormal_amino_acid1.06179013
59MP0002938_white_spotting1.05798149
60MP0002572_abnormal_emotion/affect_behav1.04343051
61MP0002064_seizures1.03938115
62MP0005386_behavior/neurological_phenoty1.02745616
63MP0004924_abnormal_behavior1.02745616
64MP0005379_endocrine/exocrine_gland_phen1.02525864
65MP0004145_abnormal_muscle_electrophysio1.02034255
66MP0001970_abnormal_pain_threshold1.01450628
67MP0000383_abnormal_hair_follicle0.99934198
68MP0005389_reproductive_system_phenotype0.99234125
69MP0002733_abnormal_thermal_nociception0.99102005
70MP0002557_abnormal_social/conspecific_i0.98637144
71MP0005085_abnormal_gallbladder_physiolo0.97658875
72MP0002693_abnormal_pancreas_physiology0.95513217
73MP0001919_abnormal_reproductive_system0.94780714
74MP0002735_abnormal_chemical_nociception0.94636459
75MP0002067_abnormal_sensory_capabilities0.93949691
76MP0009764_decreased_sensitivity_to0.91420996
77MP0005195_abnormal_posterior_eye0.85285953
78MP0001764_abnormal_homeostasis0.84994652
79MP0002254_reproductive_system_inflammat0.84143449
80MP0008789_abnormal_olfactory_epithelium0.81822508
81MP0003136_yellow_coat_color0.80719828
82MP0004130_abnormal_muscle_cell0.80514791
83MP0002063_abnormal_learning/memory/cond0.80345068
84MP0000230_abnormal_systemic_arterial0.79333722
85MP0000026_abnormal_inner_ear0.78541682
86MP0002234_abnormal_pharynx_morphology0.77677212
87MP0005083_abnormal_biliary_tract0.76699032
88MP0002277_abnormal_respiratory_mucosa0.75223719
89MP0002229_neurodegeneration0.75138049
90MP0001905_abnormal_dopamine_level0.74928045
91MP0003283_abnormal_digestive_organ0.74454321
92MP0000613_abnormal_salivary_gland0.74400875
93MP0010329_abnormal_lipoprotein_level0.73980962
94MP0002148_abnormal_hypersensitivity_rea0.73922668
95MP0008995_early_reproductive_senescence0.73693782
96MP0001324_abnormal_eye_pigmentation0.73607168
97MP0003635_abnormal_synaptic_transmissio0.72472085
98MP0005636_abnormal_mineral_homeostasis0.71631871
99MP0003698_abnormal_male_reproductive0.70863694
100MP0002752_abnormal_somatic_nervous0.70675851

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.54151819
2Congenital stationary night blindness (HP:0007642)4.23649454
3Molar tooth sign on MRI (HP:0002419)4.09607862
4Abnormality of midbrain morphology (HP:0002418)4.09607862
5Pancreatic fibrosis (HP:0100732)4.00441183
6Type II lissencephaly (HP:0007260)3.96570527
7True hermaphroditism (HP:0010459)3.87048065
8Nephronophthisis (HP:0000090)3.61102502
9Abnormality of the renal cortex (HP:0011035)3.58059559
10Abnormality of the renal medulla (HP:0100957)3.37874162
11Abolished electroretinogram (ERG) (HP:0000550)2.97912665
12Congenital, generalized hypertrichosis (HP:0004540)2.92864077
13Medial flaring of the eyebrow (HP:0010747)2.82532286
14Fair hair (HP:0002286)2.81814915
15Tubular atrophy (HP:0000092)2.76116649
16Inability to walk (HP:0002540)2.74893333
17Attenuation of retinal blood vessels (HP:0007843)2.71317978
18Decreased circulating renin level (HP:0003351)2.68200526
19Cystic liver disease (HP:0006706)2.67815743
203-Methylglutaconic aciduria (HP:0003535)2.62807856
21Cerebellar dysplasia (HP:0007033)2.61737038
22Progressive inability to walk (HP:0002505)2.60065124
23Chronic hepatic failure (HP:0100626)2.58328718
24Hyperventilation (HP:0002883)2.57354162
25Abnormal rod and cone electroretinograms (HP:0008323)2.57121521
26Polydipsia (HP:0001959)2.52891500
27Abnormal drinking behavior (HP:0030082)2.52891500
28Renal cortical cysts (HP:0000803)2.46324026
29Pendular nystagmus (HP:0012043)2.45657897
30Stomatitis (HP:0010280)2.44020073
31Furrowed tongue (HP:0000221)2.31987801
32Decreased electroretinogram (ERG) amplitude (HP:0000654)2.31043397
33Hyperalaninemia (HP:0003348)2.29121113
34Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.29121113
35Abnormality of alanine metabolism (HP:0010916)2.29121113
36Abnormal biliary tract physiology (HP:0012439)2.27874636
37Bile duct proliferation (HP:0001408)2.27874636
38Increased corneal curvature (HP:0100692)2.27034145
39Keratoconus (HP:0000563)2.27034145
40Lissencephaly (HP:0001339)2.24435432
41Generalized hypopigmentation of hair (HP:0011358)2.22039577
42Concave nail (HP:0001598)2.21239238
43Large for gestational age (HP:0001520)2.21134104
44Gaze-evoked nystagmus (HP:0000640)2.19856074
45Acute necrotizing encephalopathy (HP:0006965)2.18493420
46Sclerocornea (HP:0000647)2.18325313
47Stomach cancer (HP:0012126)2.17256011
48Polyuria (HP:0000103)2.17027754
49Pachygyria (HP:0001302)2.16743699
50Aplasia/Hypoplasia of the tongue (HP:0010295)2.10665704
51Mitochondrial inheritance (HP:0001427)2.09725971
52Absent/shortened dynein arms (HP:0200106)2.06844378
53Dynein arm defect of respiratory motile cilia (HP:0012255)2.06844378
54Methylmalonic acidemia (HP:0002912)2.06840383
55Retinal dysplasia (HP:0007973)2.06158616
56Progressive macrocephaly (HP:0004481)2.06002298
57Increased CSF lactate (HP:0002490)2.02667701
58Gait imbalance (HP:0002141)1.99915368
59Congenital hepatic fibrosis (HP:0002612)1.98533393
60Severe muscular hypotonia (HP:0006829)1.96445757
61Male pseudohermaphroditism (HP:0000037)1.92519343
62Congenital primary aphakia (HP:0007707)1.92358135
63Acute encephalopathy (HP:0006846)1.91857644
64Optic disc pallor (HP:0000543)1.87499241
65Hypokalemic alkalosis (HP:0001949)1.87299221
66IgG deficiency (HP:0004315)1.86624405
67Absent speech (HP:0001344)1.86446210
68Amelogenesis imperfecta (HP:0000705)1.84662176
69Absent rod-and cone-mediated responses on ERG (HP:0007688)1.84531913
70Abnormality of the pons (HP:0007361)1.84171284
71Hypothermia (HP:0002045)1.83714610
72Postaxial foot polydactyly (HP:0001830)1.82742344
73Anencephaly (HP:0002323)1.81854658
74Nephrogenic diabetes insipidus (HP:0009806)1.81218085
75Hemiparesis (HP:0001269)1.80729662
76Broad-based gait (HP:0002136)1.80502634
77Aplasia/hypoplasia of the uterus (HP:0008684)1.80200764
78Febrile seizures (HP:0002373)1.79161716
79Type I transferrin isoform profile (HP:0003642)1.78789222
80Congenital sensorineural hearing impairment (HP:0008527)1.78683558
81Decreased central vision (HP:0007663)1.78449603
82Abnormal mitochondria in muscle tissue (HP:0008316)1.77086692
83Tubulointerstitial fibrosis (HP:0005576)1.76969765
84Ketosis (HP:0001946)1.76101558
85Bony spicule pigmentary retinopathy (HP:0007737)1.74198403
86Hypoplasia of the fovea (HP:0007750)1.73907427
87Aplasia/Hypoplasia of the fovea (HP:0008060)1.73907427
88Abnormal urine output (HP:0012590)1.73315002
89Methylmalonic aciduria (HP:0012120)1.72760494
90Agitation (HP:0000713)1.71359361
91Aplasia/Hypoplasia of the spleen (HP:0010451)1.70765964
92Hypoproteinemia (HP:0003075)1.70469800
93Progressive cerebellar ataxia (HP:0002073)1.69597122
94Optic nerve hypoplasia (HP:0000609)1.69586566
95Thyroiditis (HP:0100646)1.69480357
96Hypomagnesemia (HP:0002917)1.69028894
97Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.68781275
98Ketoacidosis (HP:0001993)1.67481625
99Severe visual impairment (HP:0001141)1.67397448
100Abnormality of renal excretion (HP:0011036)1.67382173

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.08742174
2ADRBK23.81665237
3BMPR1B3.11678377
4TAOK32.93983438
5MAP4K22.66030554
6NUAK12.60181777
7GRK12.54995124
8TXK2.54167356
9WNK42.38016795
10WNK32.32191465
11ZAK2.22119285
12PINK12.10687664
13ACVR1B2.09571738
14MAPK131.88479529
15MAPKAPK31.70947713
16INSRR1.66928354
17TLK11.64338294
18OXSR11.63584730
19STK391.53149345
20TRIM281.38619677
21MAP3K41.37151726
22BCKDK1.36489075
23MKNK21.34243960
24NTRK31.32607723
25CAMKK21.29391903
26TGFBR11.27484333
27CASK1.22231376
28ADRBK11.16288984
29KIT1.10951708
30DYRK21.10246528
31PAK31.07572610
32DAPK21.05784406
33MAP2K61.02496828
34PNCK1.00020695
35MARK10.97024103
36PTK2B0.96942000
37PRKCE0.92024966
38VRK10.89465875
39MAPK150.89354590
40ERBB30.87132899
41PHKG10.86613099
42PHKG20.86613099
43IKBKB0.86289668
44PRKCG0.84973705
45MAPKAPK50.84148767
46BCR0.81406934
47SYK0.78676645
48TEC0.77833467
49TIE10.75232829
50PLK20.73850065
51ITK0.71957015
52BRSK20.71689429
53PRKCQ0.71432036
54IRAK10.70228234
55FGFR20.69327704
56GRK70.68937484
57CSNK1G10.65194003
58MAP2K70.62204107
59CSNK1G30.61451521
60CSNK1G20.61440535
61MAP2K20.56586468
62PIK3CA0.56390526
63MKNK10.54624621
64CDK80.52235806
65STK30.51723349
66CSNK1A10.51308333
67STK38L0.51197930
68MUSK0.50519655
69IGF1R0.49464061
70MST40.47538701
71STK110.47328152
72GRK50.46176907
73RPS6KA50.45561442
74TNIK0.44845183
75EIF2AK30.43660658
76LCK0.43473080
77CSNK1A1L0.43393353
78CHUK0.43328667
79CAMK2A0.43108336
80PRKACA0.42904356
81LYN0.42682968
82IKBKE0.41868943
83MAP4K10.41090565
84PIK3CG0.40952418
85GRK60.38775690
86PRKAA10.36535629
87PRKCI0.36529054
88TNK20.36018076
89JAK30.35719427
90EPHA30.35700090
91TAF10.35250990
92FES0.34873923
93PRKCA0.34856483
94TRPM70.34583819
95PLK30.34154748
96TSSK60.32864795
97CAMK10.32619607
98ABL10.31900229
99CSNK1D0.31686259
100PRKCZ0.31317455

Predicted pathways (KEGG)

RankGene SetZ-score
1Caffeine metabolism_Homo sapiens_hsa002325.72384970
2alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.09431713
3Linoleic acid metabolism_Homo sapiens_hsa005912.83002790
4Phototransduction_Homo sapiens_hsa047442.55126563
5Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.37139926
6Fatty acid biosynthesis_Homo sapiens_hsa000612.15857382
7Ether lipid metabolism_Homo sapiens_hsa005652.12221841
8Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.08775787
9Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.03089096
10Maturity onset diabetes of the young_Homo sapiens_hsa049501.95740376
11Butanoate metabolism_Homo sapiens_hsa006501.95180724
12Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.92204023
13Oxidative phosphorylation_Homo sapiens_hsa001901.85086442
14Peroxisome_Homo sapiens_hsa041461.76897099
15* Nitrogen metabolism_Homo sapiens_hsa009101.67514481
16Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.66933828
17Intestinal immune network for IgA production_Homo sapiens_hsa046721.60119232
18Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.55525582
19Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.55126676
20Selenocompound metabolism_Homo sapiens_hsa004501.53630918
21Protein export_Homo sapiens_hsa030601.49742268
22Tryptophan metabolism_Homo sapiens_hsa003801.48056771
23Nicotine addiction_Homo sapiens_hsa050331.46599058
24Regulation of autophagy_Homo sapiens_hsa041401.41297817
25Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.32685727
26Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.32152401
27Propanoate metabolism_Homo sapiens_hsa006401.30841716
28Arachidonic acid metabolism_Homo sapiens_hsa005901.25684811
29Primary immunodeficiency_Homo sapiens_hsa053401.24531570
30RNA polymerase_Homo sapiens_hsa030201.23975473
31Asthma_Homo sapiens_hsa053101.21920231
32Parkinsons disease_Homo sapiens_hsa050121.21417582
33Olfactory transduction_Homo sapiens_hsa047401.14351566
34Morphine addiction_Homo sapiens_hsa050321.11978128
35Graft-versus-host disease_Homo sapiens_hsa053321.11895447
36Type I diabetes mellitus_Homo sapiens_hsa049401.10375124
37Primary bile acid biosynthesis_Homo sapiens_hsa001201.10089986
38SNARE interactions in vesicular transport_Homo sapiens_hsa041301.09222425
39Allograft rejection_Homo sapiens_hsa053301.08039228
40Autoimmune thyroid disease_Homo sapiens_hsa053201.06931045
41Homologous recombination_Homo sapiens_hsa034401.05484745
42Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.05382486
43beta-Alanine metabolism_Homo sapiens_hsa004101.05231222
44Glycerolipid metabolism_Homo sapiens_hsa005611.04046329
45Fat digestion and absorption_Homo sapiens_hsa049751.02312368
46RNA degradation_Homo sapiens_hsa030181.00488506
47Taste transduction_Homo sapiens_hsa047421.00249694
48Cyanoamino acid metabolism_Homo sapiens_hsa004601.00122620
49Basal transcription factors_Homo sapiens_hsa030220.99992093
50Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.89767857
51Fanconi anemia pathway_Homo sapiens_hsa034600.88749013
52Histidine metabolism_Homo sapiens_hsa003400.88278555
53Steroid hormone biosynthesis_Homo sapiens_hsa001400.88043457
54Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.86898836
55Chemical carcinogenesis_Homo sapiens_hsa052040.82417784
56Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.81663007
57Steroid biosynthesis_Homo sapiens_hsa001000.78814128
58Proteasome_Homo sapiens_hsa030500.78335320
59Collecting duct acid secretion_Homo sapiens_hsa049660.77251188
60ABC transporters_Homo sapiens_hsa020100.76561147
61Insulin secretion_Homo sapiens_hsa049110.75503020
62Alzheimers disease_Homo sapiens_hsa050100.74951663
63Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.73959629
64Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.72935900
65Retinol metabolism_Homo sapiens_hsa008300.72918809
66Serotonergic synapse_Homo sapiens_hsa047260.72405408
67Circadian entrainment_Homo sapiens_hsa047130.70737197
68GABAergic synapse_Homo sapiens_hsa047270.70482084
69Dorso-ventral axis formation_Homo sapiens_hsa043200.70455909
70Sulfur metabolism_Homo sapiens_hsa009200.70241834
71One carbon pool by folate_Homo sapiens_hsa006700.68428433
72Cardiac muscle contraction_Homo sapiens_hsa042600.68116273
73Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.66454092
74Ovarian steroidogenesis_Homo sapiens_hsa049130.65731326
75Huntingtons disease_Homo sapiens_hsa050160.65520703
76Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.64275657
77Salivary secretion_Homo sapiens_hsa049700.61253829
78Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.60931010
79Purine metabolism_Homo sapiens_hsa002300.59125300
80Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.57687454
81Glutamatergic synapse_Homo sapiens_hsa047240.56644498
82Metabolic pathways_Homo sapiens_hsa011000.54806541
83Pentose and glucuronate interconversions_Homo sapiens_hsa000400.54250689
84Antigen processing and presentation_Homo sapiens_hsa046120.51809622
85Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.51796254
86Rheumatoid arthritis_Homo sapiens_hsa053230.51184316
87Fatty acid degradation_Homo sapiens_hsa000710.44904028
88Fatty acid metabolism_Homo sapiens_hsa012120.41880184
89Non-homologous end-joining_Homo sapiens_hsa034500.41181150
90Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.41130686
91Drug metabolism - other enzymes_Homo sapiens_hsa009830.39698155
92Glycerophospholipid metabolism_Homo sapiens_hsa005640.38254174
93Circadian rhythm_Homo sapiens_hsa047100.35459961
94Fatty acid elongation_Homo sapiens_hsa000620.33819919
95Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.33379123
96Calcium signaling pathway_Homo sapiens_hsa040200.32991254
97NOD-like receptor signaling pathway_Homo sapiens_hsa046210.32450494
98Vitamin digestion and absorption_Homo sapiens_hsa049770.32103316
99Hematopoietic cell lineage_Homo sapiens_hsa046400.31968656
100Dopaminergic synapse_Homo sapiens_hsa047280.31473776

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