CA5B

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 (CAs) 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. CA VB is localized in the mitochondria and shows the highest sequence similarity to the other mitochondrial CA, CA VA. It has a wider tissue distribution than CA VA, which is restricted to the liver. The differences in tissue distribution suggest that the two mitochondrial carbonic anhydrases evolved to assume different physiologic roles. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA deamination (GO:0045006)4.51050812
2behavioral response to nicotine (GO:0035095)4.34906085
3fucose catabolic process (GO:0019317)4.07169823
4L-fucose metabolic process (GO:0042354)4.07169823
5L-fucose catabolic process (GO:0042355)4.07169823
6indolalkylamine metabolic process (GO:0006586)3.89060213
7neural tube formation (GO:0001841)3.70502649
8tryptophan catabolic process (GO:0006569)3.65175530
9indole-containing compound catabolic process (GO:0042436)3.65175530
10indolalkylamine catabolic process (GO:0046218)3.65175530
11response to pheromone (GO:0019236)3.61275744
12epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.51914527
13protein K11-linked deubiquitination (GO:0035871)3.47158282
14detection of light stimulus involved in sensory perception (GO:0050962)3.35149820
15detection of light stimulus involved in visual perception (GO:0050908)3.35149820
16detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.34343829
17tryptophan metabolic process (GO:0006568)3.26465774
18axoneme assembly (GO:0035082)3.19682455
19sulfation (GO:0051923)3.19505514
20kynurenine metabolic process (GO:0070189)3.16882647
21cellular ketone body metabolic process (GO:0046950)3.13706248
22cytidine metabolic process (GO:0046087)3.05394816
23cytidine catabolic process (GO:0006216)3.05394816
24cytidine deamination (GO:0009972)3.05394816
25negative regulation of mast cell activation (GO:0033004)3.04381134
26establishment of protein localization to Golgi (GO:0072600)3.02032254
27dopamine transport (GO:0015872)2.97936355
28water-soluble vitamin biosynthetic process (GO:0042364)2.95406289
29phosphatidylinositol acyl-chain remodeling (GO:0036149)2.88512882
30cilium or flagellum-dependent cell motility (GO:0001539)2.86223322
31signal peptide processing (GO:0006465)2.85625841
32ketone body metabolic process (GO:1902224)2.84736085
33reflex (GO:0060004)2.83984410
34epithelial cilium movement (GO:0003351)2.83860932
35indole-containing compound metabolic process (GO:0042430)2.83614902
36piRNA metabolic process (GO:0034587)2.79410776
37behavioral response to ethanol (GO:0048149)2.75172453
38kidney morphogenesis (GO:0060993)2.74782137
39negative regulation of cytosolic calcium ion concentration (GO:0051481)2.73403148
40pyrimidine ribonucleoside catabolic process (GO:0046133)2.69419929
41activated T cell proliferation (GO:0050798)2.67416258
42photoreceptor cell maintenance (GO:0045494)2.66361075
43regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.66302205
44platelet dense granule organization (GO:0060155)2.63925902
45negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.63686987
46negative regulation of translation, ncRNA-mediated (GO:0040033)2.63686987
47regulation of translation, ncRNA-mediated (GO:0045974)2.63686987
48preassembly of GPI anchor in ER membrane (GO:0016254)2.63237992
49cellular biogenic amine catabolic process (GO:0042402)2.63056873
50amine catabolic process (GO:0009310)2.63056873
51cAMP catabolic process (GO:0006198)2.62976401
52regulation of memory T cell differentiation (GO:0043380)2.62767084
53cellular response to interleukin-15 (GO:0071350)2.60642583
54adaptation of signaling pathway (GO:0023058)2.59660994
55serotonin metabolic process (GO:0042428)2.59592688
56primary amino compound metabolic process (GO:1901160)2.58383747
57multicellular organism reproduction (GO:0032504)2.55697004
58regulation of B cell receptor signaling pathway (GO:0050855)2.55106196
59cilium movement (GO:0003341)2.55061725
60interferon-gamma production (GO:0032609)2.50208822
61positive regulation of defense response to virus by host (GO:0002230)2.49683402
62regulation of rhodopsin mediated signaling pathway (GO:0022400)2.49120850
63RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.48512481
64DNA methylation involved in gamete generation (GO:0043046)2.48493005
65cilium morphogenesis (GO:0060271)2.47175650
66regulation of cilium movement (GO:0003352)2.45682403
67rhodopsin mediated signaling pathway (GO:0016056)2.45084540
68protein polyglutamylation (GO:0018095)2.43391914
69cyclic nucleotide catabolic process (GO:0009214)2.42382865
70regulation of regulatory T cell differentiation (GO:0045589)2.42260867
71protein targeting to Golgi (GO:0000042)2.39947251
72embryonic epithelial tube formation (GO:0001838)2.39558529
73respiratory chain complex IV assembly (GO:0008535)2.39123484
74neuronal action potential (GO:0019228)2.39074550
75positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.38131473
76rRNA catabolic process (GO:0016075)2.38076536
77S-adenosylmethionine metabolic process (GO:0046500)2.37195309
78cilium organization (GO:0044782)2.34592420
79protein K63-linked deubiquitination (GO:0070536)2.34354592
80negative regulation of telomere maintenance (GO:0032205)2.33438721
81mannosylation (GO:0097502)2.33237278
82negative regulation of cAMP-mediated signaling (GO:0043951)2.31360226
83positive regulation of fatty acid transport (GO:2000193)2.29959551
84thyroid hormone metabolic process (GO:0042403)2.29922816
85positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.28197874
86phosphatidylserine acyl-chain remodeling (GO:0036150)2.27334727
87negative regulation of execution phase of apoptosis (GO:1900118)2.27305036
88cilium assembly (GO:0042384)2.26547274
89NAD biosynthetic process (GO:0009435)2.25934219
90cell wall macromolecule metabolic process (GO:0044036)2.25455384
91photoreceptor cell development (GO:0042461)2.24591182
92regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.24343752
93positive regulation of developmental pigmentation (GO:0048087)2.23412479
94positive regulation of T cell mediated cytotoxicity (GO:0001916)2.22797432
95regulation of action potential (GO:0098900)2.22689807
96keratinocyte development (GO:0003334)2.22203773
97positive regulation of oligodendrocyte differentiation (GO:0048714)2.21228461
98phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.20378599
99protein K48-linked deubiquitination (GO:0071108)2.20245940
100regulation of acrosome reaction (GO:0060046)2.19869232

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela2.97608551
2GBX2_23144817_ChIP-Seq_PC3_Human2.80817362
3VDR_22108803_ChIP-Seq_LS180_Human2.77886537
4FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.67349596
5ZFP57_27257070_Chip-Seq_ESCs_Mouse2.50905724
6GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.44523570
7POU3F2_20337985_ChIP-ChIP_501MEL_Human2.38411798
8FLI1_27457419_Chip-Seq_LIVER_Mouse2.33187830
9IGF1R_20145208_ChIP-Seq_DFB_Human2.16773588
10GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.14826454
11CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.12819351
12STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.12542863
13IRF8_22096565_ChIP-ChIP_GC-B_Human2.11629382
14TAF15_26573619_Chip-Seq_HEK293_Human2.00472043
15ER_23166858_ChIP-Seq_MCF-7_Human2.00162372
16CTBP2_25329375_ChIP-Seq_LNCAP_Human1.99464915
17FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.95940051
18P300_19829295_ChIP-Seq_ESCs_Human1.92612242
19FUS_26573619_Chip-Seq_HEK293_Human1.86436146
20PCGF2_27294783_Chip-Seq_ESCs_Mouse1.85907023
21AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.83673279
22BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.83104948
23EWS_26573619_Chip-Seq_HEK293_Human1.82095645
24CTBP1_25329375_ChIP-Seq_LNCAP_Human1.79856955
25BCAT_22108803_ChIP-Seq_LS180_Human1.77964478
26PIAS1_25552417_ChIP-Seq_VCAP_Human1.72186492
27STAT3_23295773_ChIP-Seq_U87_Human1.59130471
28SMAD4_21799915_ChIP-Seq_A2780_Human1.55317286
29SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.54646785
30SUZ12_27294783_Chip-Seq_NPCs_Mouse1.53176087
31UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.52900670
32EZH2_27294783_Chip-Seq_NPCs_Mouse1.52631946
33PCGF2_27294783_Chip-Seq_NPCs_Mouse1.51501557
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.51110706
35EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.50357370
36RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.47877871
37NFE2_27457419_Chip-Seq_LIVER_Mouse1.47846512
38CBP_20019798_ChIP-Seq_JUKART_Human1.47099912
39IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.47099912
40AR_25329375_ChIP-Seq_VCAP_Human1.45824052
41NOTCH1_21737748_ChIP-Seq_TLL_Human1.44009442
42SALL1_21062744_ChIP-ChIP_HESCs_Human1.43988069
43TCF4_23295773_ChIP-Seq_U87_Human1.43501778
44NR3C1_21868756_ChIP-Seq_MCF10A_Human1.41889662
45EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.40462746
46IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.39567504
47CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.35266871
48SOX2_19829295_ChIP-Seq_ESCs_Human1.33248769
49NANOG_19829295_ChIP-Seq_ESCs_Human1.33248769
50SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.32773093
51TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.32380422
52POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.32380422
53TP53_22573176_ChIP-Seq_HFKS_Human1.32128242
54MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.31633928
55MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.31588310
56PRDM14_20953172_ChIP-Seq_ESCs_Human1.30849525
57TCF4_22108803_ChIP-Seq_LS180_Human1.30111302
58SMAD_19615063_ChIP-ChIP_OVARY_Human1.29400663
59FLI1_21867929_ChIP-Seq_TH2_Mouse1.28110572
60CRX_20693478_ChIP-Seq_RETINA_Mouse1.26191755
61GATA3_26560356_Chip-Seq_TH2_Human1.25621411
62SMAD3_21741376_ChIP-Seq_EPCs_Human1.25611754
63RUNX_20019798_ChIP-Seq_JUKART_Human1.24683231
64FOXA1_27270436_Chip-Seq_PROSTATE_Human1.23174392
65FOXA1_25329375_ChIP-Seq_VCAP_Human1.23174392
66TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.20704281
67NANOG_18555785_Chip-Seq_ESCs_Mouse1.20483409
68FOXA1_21572438_ChIP-Seq_LNCaP_Human1.20113749
69TOP2B_26459242_ChIP-Seq_MCF-7_Human1.19700019
70EGR1_23403033_ChIP-Seq_LIVER_Mouse1.19113271
71EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.17696028
72CDX2_22108803_ChIP-Seq_LS180_Human1.17489685
73RUNX2_22187159_ChIP-Seq_PCA_Human1.16999452
74EZH2_22144423_ChIP-Seq_EOC_Human1.16954344
75AR_21572438_ChIP-Seq_LNCaP_Human1.16327868
76P53_22387025_ChIP-Seq_ESCs_Mouse1.16032813
77OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.15237516
78SMAD4_21741376_ChIP-Seq_EPCs_Human1.14765924
79GATA3_21878914_ChIP-Seq_MCF-7_Human1.14403277
80SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13442904
81ARNT_22903824_ChIP-Seq_MCF-7_Human1.12140248
82PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.10663325
83OCT4_21477851_ChIP-Seq_ESCs_Mouse1.10152828
84SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.09827547
85AR_20517297_ChIP-Seq_VCAP_Human1.08506758
86E2F1_18555785_Chip-Seq_ESCs_Mouse1.06552059
87AHR_22903824_ChIP-Seq_MCF-7_Human1.06456832
88HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.06282551
89STAT3_18555785_Chip-Seq_ESCs_Mouse1.06163380
90KLF5_20875108_ChIP-Seq_MESCs_Mouse1.05347663
91TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04572264
92BMI1_23680149_ChIP-Seq_NPCS_Mouse1.04091346
93GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.02697397
94MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.02041097
95LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.01549658
96TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.00619351
97TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.00145078
98IRF1_19129219_ChIP-ChIP_H3396_Human1.00038074
99CMYC_18555785_Chip-Seq_ESCs_Mouse0.99882579
100SMRT_27268052_Chip-Seq_Bcells_Human0.99285601

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation4.29575943
2MP0003195_calcinosis3.69824589
3MP0008877_abnormal_DNA_methylation2.45919593
4MP0003787_abnormal_imprinting2.39818961
5MP0002837_dystrophic_cardiac_calcinosis2.33981928
6MP0005551_abnormal_eye_electrophysiolog2.24750965
7MP0002102_abnormal_ear_morphology2.22754798
8MP0000372_irregular_coat_pigmentation2.12233826
9MP0001501_abnormal_sleep_pattern2.09411266
10MP0005174_abnormal_tail_pigmentation2.05642788
11MP0002876_abnormal_thyroid_physiology2.02297941
12MP0001986_abnormal_taste_sensitivity2.01678654
13MP0002638_abnormal_pupillary_reflex1.99928700
14MP0005671_abnormal_response_to1.96663071
15MP0001968_abnormal_touch/_nociception1.93621744
16MP0005075_abnormal_melanosome_morpholog1.89209023
17MP0006072_abnormal_retinal_apoptosis1.81583967
18MP0003646_muscle_fatigue1.78801159
19MP0009046_muscle_twitch1.78348507
20MP0000427_abnormal_hair_cycle1.66999108
21MP0005253_abnormal_eye_physiology1.66126758
22MP0005646_abnormal_pituitary_gland1.63083656
23MP0008872_abnormal_physiological_respon1.61871864
24MP0005645_abnormal_hypothalamus_physiol1.56278437
25MP0003136_yellow_coat_color1.54148939
26MP0003724_increased_susceptibility_to1.54068780
27MP0010386_abnormal_urinary_bladder1.51464722
28MP0009745_abnormal_behavioral_response1.51188601
29MP0002736_abnormal_nociception_after1.49437878
30MP0004142_abnormal_muscle_tone1.49391028
31MP0000015_abnormal_ear_pigmentation1.43648383
32MP0002138_abnormal_hepatobiliary_system1.42642006
33MP0003011_delayed_dark_adaptation1.42386781
34MP0006276_abnormal_autonomic_nervous1.41390283
35MP0001485_abnormal_pinna_reflex1.39847354
36MP0004043_abnormal_pH_regulation1.37634098
37MP0002693_abnormal_pancreas_physiology1.32216188
38MP0004147_increased_porphyrin_level1.26828121
39MP0003950_abnormal_plasma_membrane1.26517046
40MP0003045_fibrosis1.25728003
41MP0002277_abnormal_respiratory_mucosa1.24469154
42MP0001800_abnormal_humoral_immune1.23293903
43MP0004381_abnormal_hair_follicle1.21543754
44MP0002909_abnormal_adrenal_gland1.18565171
45MP0002272_abnormal_nervous_system1.15682286
46MP0008875_abnormal_xenobiotic_pharmacok1.15523947
47MP0002095_abnormal_skin_pigmentation1.11791053
48MP0002928_abnormal_bile_duct1.11458499
49MP0004130_abnormal_muscle_cell1.10873220
50MP0002653_abnormal_ependyma_morphology1.09205546
51MP0001486_abnormal_startle_reflex1.09002932
52MP0002938_white_spotting1.08499806
53MP0000230_abnormal_systemic_arterial1.06262952
54MP0001835_abnormal_antigen_presentation1.03966596
55MP0005084_abnormal_gallbladder_morpholo1.03434505
56MP0004885_abnormal_endolymph1.03220012
57MP0001984_abnormal_olfaction1.02621274
58MP0000383_abnormal_hair_follicle1.00713364
59MP0003763_abnormal_thymus_physiology1.00513224
60MP0009785_altered_susceptibility_to0.98964165
61MP0005389_reproductive_system_phenotype0.98701642
62MP0001970_abnormal_pain_threshold0.97884033
63MP0000631_abnormal_neuroendocrine_gland0.97266835
64MP0005171_absent_coat_pigmentation0.97015248
65MP0010329_abnormal_lipoprotein_level0.96714472
66MP0005310_abnormal_salivary_gland0.94802405
67MP0005386_behavior/neurological_phenoty0.93809927
68MP0004924_abnormal_behavior0.93809927
69MP0006054_spinal_hemorrhage0.93109170
70MP0002723_abnormal_immune_serum0.92638127
71MP0002168_other_aberrant_phenotype0.91659042
72MP0001873_stomach_inflammation0.91608444
73MP0005410_abnormal_fertilization0.89802903
74MP0008057_abnormal_DNA_replication0.89684511
75MP0002572_abnormal_emotion/affect_behav0.88868951
76MP0002163_abnormal_gland_morphology0.88836468
77MP0003137_abnormal_impulse_conducting0.88633547
78MP0002733_abnormal_thermal_nociception0.88448962
79MP0000685_abnormal_immune_system0.87299322
80MP0001905_abnormal_dopamine_level0.87159797
81MP0002148_abnormal_hypersensitivity_rea0.85953994
82MP0002064_seizures0.85345499
83MP0008995_early_reproductive_senescence0.84375207
84MP0005000_abnormal_immune_tolerance0.83838206
85MP0002420_abnormal_adaptive_immunity0.82759112
86MP0001919_abnormal_reproductive_system0.81692526
87MP0001944_abnormal_pancreas_morphology0.81065023
88MP0009764_decreased_sensitivity_to0.80548109
89MP0002254_reproductive_system_inflammat0.80155715
90MP0001790_abnormal_immune_system0.79892376
91MP0005387_immune_system_phenotype0.79892376
92MP0001819_abnormal_immune_cell0.79848986
93MP0002009_preneoplasia0.77452229
94MP0002160_abnormal_reproductive_system0.76857049
95MP0008961_abnormal_basal_metabolism0.76593200
96MP0001765_abnormal_ion_homeostasis0.76306137
97MP0002452_abnormal_antigen_presenting0.76041999
98MP0005379_endocrine/exocrine_gland_phen0.76038343
99MP0002067_abnormal_sensory_capabilities0.75561796
100MP0003252_abnormal_bile_duct0.74743298

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.80391828
2Pancreatic fibrosis (HP:0100732)4.10848416
3Abnormality of midbrain morphology (HP:0002418)3.90031502
4Molar tooth sign on MRI (HP:0002419)3.90031502
5True hermaphroditism (HP:0010459)3.80185782
6Congenital stationary night blindness (HP:0007642)3.72883681
7Abnormality of the renal cortex (HP:0011035)3.64555060
8Nephronophthisis (HP:0000090)3.40747415
9Hyperventilation (HP:0002883)3.36937092
10Attenuation of retinal blood vessels (HP:0007843)3.26581495
11Abnormality of the renal medulla (HP:0100957)3.13061995
12Gaze-evoked nystagmus (HP:0000640)3.12162735
13Progressive inability to walk (HP:0002505)3.03982830
14Medial flaring of the eyebrow (HP:0010747)2.96740170
15Polydipsia (HP:0001959)2.96134158
16Abnormal drinking behavior (HP:0030082)2.96134158
17Cystic liver disease (HP:0006706)2.91800845
18Abnormal rod and cone electroretinograms (HP:0008323)2.82844882
19Tubular atrophy (HP:0000092)2.81788721
20Stomatitis (HP:0010280)2.80839571
21Abolished electroretinogram (ERG) (HP:0000550)2.80404167
22Large for gestational age (HP:0001520)2.80252398
23Inability to walk (HP:0002540)2.78221620
24Renal cortical cysts (HP:0000803)2.75727767
25Stomach cancer (HP:0012126)2.69706808
26Genetic anticipation (HP:0003743)2.66623355
27Type II lissencephaly (HP:0007260)2.62606799
28Hypothermia (HP:0002045)2.59768342
29Fair hair (HP:0002286)2.52784046
30Chronic hepatic failure (HP:0100626)2.52336244
31Progressive cerebellar ataxia (HP:0002073)2.46105121
32Hypoproteinemia (HP:0003075)2.43608151
33Congenital, generalized hypertrichosis (HP:0004540)2.40729110
34Absent rod-and cone-mediated responses on ERG (HP:0007688)2.38900970
35Decreased circulating renin level (HP:0003351)2.36576775
36Thyroiditis (HP:0100646)2.36525167
37Furrowed tongue (HP:0000221)2.30735290
38Decreased central vision (HP:0007663)2.25948061
39Generalized hypopigmentation of hair (HP:0011358)2.25560729
40Congenital primary aphakia (HP:0007707)2.17791069
41Gait imbalance (HP:0002141)2.17694603
42Tetany (HP:0001281)2.17353703
43Constricted visual fields (HP:0001133)2.16239477
44Polyuria (HP:0000103)2.16083733
45Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.15195197
46Abnormality of alanine metabolism (HP:0010916)2.15195197
47Hyperalaninemia (HP:0003348)2.15195197
48Abnormal biliary tract physiology (HP:0012439)2.15007658
49Bile duct proliferation (HP:0001408)2.15007658
50Abnormality of T cell number (HP:0011839)2.13178085
51Absent/shortened dynein arms (HP:0200106)2.12540536
52Dynein arm defect of respiratory motile cilia (HP:0012255)2.12540536
53Male pseudohermaphroditism (HP:0000037)2.12293844
54Bony spicule pigmentary retinopathy (HP:0007737)2.11276981
55Elevated erythrocyte sedimentation rate (HP:0003565)2.11203147
56Clumsiness (HP:0002312)2.10039472
57Decreased electroretinogram (ERG) amplitude (HP:0000654)2.09959851
58Keratoconus (HP:0000563)2.09678845
59Increased corneal curvature (HP:0100692)2.09678845
60Nephrogenic diabetes insipidus (HP:0009806)2.09523145
61Congenital hepatic fibrosis (HP:0002612)2.08969477
62Absent speech (HP:0001344)2.06298757
63Aplasia/Hypoplasia of the tibia (HP:0005772)2.06256445
64Congenital sensorineural hearing impairment (HP:0008527)2.05885831
65Cerebellar dysplasia (HP:0007033)2.05718656
66IgG deficiency (HP:0004315)2.05262442
67Aplasia/Hypoplasia of the tongue (HP:0010295)2.04609967
68Sclerocornea (HP:0000647)1.99817064
69Widely spaced teeth (HP:0000687)1.97163245
70Intestinal atresia (HP:0011100)1.95674479
71Anencephaly (HP:0002323)1.93942711
72Hypomagnesemia (HP:0002917)1.93600114
73Facial diplegia (HP:0001349)1.92978985
74T lymphocytopenia (HP:0005403)1.92319898
75Broad-based gait (HP:0002136)1.92036069
76Lissencephaly (HP:0001339)1.87280887
77Severe combined immunodeficiency (HP:0004430)1.86762924
78Protruding tongue (HP:0010808)1.86154655
79Abnormal delayed hypersensitivity skin test (HP:0002963)1.85553020
80Genital tract atresia (HP:0001827)1.85317467
81Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.85144925
82Ketoacidosis (HP:0001993)1.84536657
83Abnormal albumin level (HP:0012116)1.80044689
84Hypoalbuminemia (HP:0003073)1.80044689
85Concave nail (HP:0001598)1.79654147
86Optic neuritis (HP:0100653)1.79626802
87Retrobulbar optic neuritis (HP:0100654)1.79626802
88Abnormality of B cell number (HP:0010975)1.78225396
89Hemiparesis (HP:0001269)1.76749489
90Abnormal ciliary motility (HP:0012262)1.76606769
91Vaginal atresia (HP:0000148)1.76365692
92Febrile seizures (HP:0002373)1.73780247
93Ketosis (HP:0001946)1.72897161
94Postaxial foot polydactyly (HP:0001830)1.72263999
95Abnormality of renin-angiotensin system (HP:0000847)1.71100250
96Abnormality of the pons (HP:0007361)1.70021959
97Abnormal respiratory motile cilium physiology (HP:0012261)1.69585203
98Abnormality of eosinophils (HP:0001879)1.68919500
99Abnormality of T cells (HP:0002843)1.67914585
100Nephrotic syndrome (HP:0000100)1.67795335

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK7.26499000
2BMPR1B3.46535050
3TXK2.95953944
4ADRBK22.83635969
5TAOK32.74100263
6ACVR1B2.62985061
7GRK12.40708638
8ZAK2.18481271
9MAP4K22.16498106
10WNK31.93177277
11NUAK11.90974530
12PINK11.80617652
13TLK11.61698391
14MAPK131.52083914
15INSRR1.51800473
16OXSR11.49529449
17TEC1.47850295
18WNK41.43789871
19MST41.33098491
20STK391.30622154
21STK38L1.26235579
22ADRBK11.20292881
23PAK31.17907976
24PIK3CG1.15825150
25ITK1.14221593
26NLK1.13987660
27CAMKK21.12751092
28TNK21.10655155
29TRIM281.07611124
30TGFBR11.07053918
31MAP3K41.02443965
32PTK2B0.96301064
33IKBKB0.95277159
34PRKCQ0.94809594
35DAPK20.91301701
36SYK0.89530319
37TRPM70.89473096
38MKNK20.87836445
39PIK3CA0.87125676
40FGFR20.85817396
41NTRK30.85736799
42PRKCE0.85300229
43GRK60.83809293
44MAPK150.83078553
45KIT0.83063896
46CASK0.82592417
47MARK30.81978643
48MAPKAPK30.79951930
49PDK20.78542211
50IKBKE0.77028678
51FES0.75720177
52MAP4K10.75124250
53CSNK1G10.73988511
54PRKCG0.69607092
55BTK0.68817899
56STK30.67717846
57TNIK0.66474055
58CSNK1G20.66285308
59LCK0.65335437
60IRAK10.64847917
61MAP2K60.63085233
62CSNK1G30.62649314
63MUSK0.61487784
64LATS10.60182888
65ERBB30.59835395
66AKT30.59321464
67GRK70.58269725
68PLK20.56277930
69MAP3K120.56179322
70BRSK20.55212445
71LYN0.52722354
72PHKG20.51161413
73PHKG10.51161413
74EPHA30.51010925
75VRK10.48143387
76SGK20.47978941
77STK380.47933340
78RPS6KA50.45386804
79STK110.45043465
80BCKDK0.45021819
81PRKAA20.44000423
82CHUK0.41505160
83FER0.40047890
84CAMK10.39190145
85CSNK1A1L0.39007379
86CAMK2A0.38792818
87SIK20.38630879
88HCK0.38449965
89ABL10.38314374
90CSNK1A10.37910717
91PRKACA0.37141980
92MAP2K10.36831458
93CSNK1D0.36267269
94SIK30.35430622
95PRKCH0.34049305
96BMPR20.33971905
97PRKCA0.32860540
98IGF1R0.32497284
99TIE10.32004892
100MAPKAPK50.31759521

Predicted pathways (KEGG)

RankGene SetZ-score
1alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.82469442
2Phototransduction_Homo sapiens_hsa047442.80646388
3Linoleic acid metabolism_Homo sapiens_hsa005912.67004543
4Primary immunodeficiency_Homo sapiens_hsa053402.24981643
5Maturity onset diabetes of the young_Homo sapiens_hsa049502.24973864
6Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.21645088
7Butanoate metabolism_Homo sapiens_hsa006502.10749484
8Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.02527944
9Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.92513541
10Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.83374641
11Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.78417377
12Ether lipid metabolism_Homo sapiens_hsa005651.75976133
13Tryptophan metabolism_Homo sapiens_hsa003801.75512601
14Graft-versus-host disease_Homo sapiens_hsa053321.74589802
15Type I diabetes mellitus_Homo sapiens_hsa049401.60484840
16Dorso-ventral axis formation_Homo sapiens_hsa043201.53911531
17Intestinal immune network for IgA production_Homo sapiens_hsa046721.53300192
18Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.51876811
19Nicotine addiction_Homo sapiens_hsa050331.50988640
20* Nitrogen metabolism_Homo sapiens_hsa009101.48364755
21Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.46003326
22Primary bile acid biosynthesis_Homo sapiens_hsa001201.38407459
23Autoimmune thyroid disease_Homo sapiens_hsa053201.35936078
24Allograft rejection_Homo sapiens_hsa053301.32696046
25ABC transporters_Homo sapiens_hsa020101.31597393
26Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.31486931
27Taste transduction_Homo sapiens_hsa047421.29557640
28Homologous recombination_Homo sapiens_hsa034401.29302038
29Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.26944535
30Olfactory transduction_Homo sapiens_hsa047401.26073932
31Propanoate metabolism_Homo sapiens_hsa006401.22574008
32Circadian rhythm_Homo sapiens_hsa047101.22411737
33Morphine addiction_Homo sapiens_hsa050321.20519040
34Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.19987592
35Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.19839244
36Oxidative phosphorylation_Homo sapiens_hsa001901.17161396
37Arachidonic acid metabolism_Homo sapiens_hsa005901.16799021
38Selenocompound metabolism_Homo sapiens_hsa004501.12194193
39Protein export_Homo sapiens_hsa030601.12146216
40Asthma_Homo sapiens_hsa053101.11987314
41Regulation of autophagy_Homo sapiens_hsa041401.11842494
42Glycerolipid metabolism_Homo sapiens_hsa005611.11727938
43Steroid hormone biosynthesis_Homo sapiens_hsa001401.09948129
44Hematopoietic cell lineage_Homo sapiens_hsa046401.06452775
45Serotonergic synapse_Homo sapiens_hsa047261.05158398
46Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.04442159
47Insulin secretion_Homo sapiens_hsa049111.01881198
48Caffeine metabolism_Homo sapiens_hsa002321.01471745
49Chemical carcinogenesis_Homo sapiens_hsa052041.01080532
50Basal transcription factors_Homo sapiens_hsa030221.01061145
51Peroxisome_Homo sapiens_hsa041460.99425257
52Ovarian steroidogenesis_Homo sapiens_hsa049130.97885476
53T cell receptor signaling pathway_Homo sapiens_hsa046600.96835561
54Fanconi anemia pathway_Homo sapiens_hsa034600.96304161
55Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.96176822
56Salivary secretion_Homo sapiens_hsa049700.95248924
57RNA polymerase_Homo sapiens_hsa030200.90440991
58Circadian entrainment_Homo sapiens_hsa047130.88820939
59Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.84351568
60Calcium signaling pathway_Homo sapiens_hsa040200.82020381
61Vascular smooth muscle contraction_Homo sapiens_hsa042700.81899416
62Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.81380577
63Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.79811688
64Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.77560995
65Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.77195488
66beta-Alanine metabolism_Homo sapiens_hsa004100.76756850
67RNA degradation_Homo sapiens_hsa030180.76219666
68SNARE interactions in vesicular transport_Homo sapiens_hsa041300.75587223
69Glutamatergic synapse_Homo sapiens_hsa047240.73655705
70Antigen processing and presentation_Homo sapiens_hsa046120.73635652
71Collecting duct acid secretion_Homo sapiens_hsa049660.73603651
72Histidine metabolism_Homo sapiens_hsa003400.73279589
73Parkinsons disease_Homo sapiens_hsa050120.72224339
74GABAergic synapse_Homo sapiens_hsa047270.68406283
75Rheumatoid arthritis_Homo sapiens_hsa053230.67403460
76Retinol metabolism_Homo sapiens_hsa008300.67248533
77NOD-like receptor signaling pathway_Homo sapiens_hsa046210.66987682
78Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.66194470
79Jak-STAT signaling pathway_Homo sapiens_hsa046300.64607739
80Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.62710682
81Glycerophospholipid metabolism_Homo sapiens_hsa005640.62547064
82Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.60760908
83Renin secretion_Homo sapiens_hsa049240.58942033
84Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.58606390
85Amphetamine addiction_Homo sapiens_hsa050310.56454607
86Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.55969590
87Sulfur metabolism_Homo sapiens_hsa009200.53011885
88Mineral absorption_Homo sapiens_hsa049780.52613493
89cAMP signaling pathway_Homo sapiens_hsa040240.47767712
90Alzheimers disease_Homo sapiens_hsa050100.47008751
91Dopaminergic synapse_Homo sapiens_hsa047280.46869946
92Sphingolipid metabolism_Homo sapiens_hsa006000.46814769
93Fatty acid biosynthesis_Homo sapiens_hsa000610.46452363
94Fatty acid degradation_Homo sapiens_hsa000710.44968431
95Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.44034443
96Gastric acid secretion_Homo sapiens_hsa049710.43871333
97NF-kappa B signaling pathway_Homo sapiens_hsa040640.43486780
98Type II diabetes mellitus_Homo sapiens_hsa049300.41935249
99Oxytocin signaling pathway_Homo sapiens_hsa049210.41475330
100Pancreatic secretion_Homo sapiens_hsa049720.41010150

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