CA2

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, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein neddylation (GO:0045116)7.42551760
2thrombin receptor signaling pathway (GO:0070493)7.12825842
3neutrophil activation involved in immune response (GO:0002283)6.96514507
4blood coagulation, intrinsic pathway (GO:0007597)4.88165001
5regulation of platelet activation (GO:0010543)4.66237628
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.59514626
7protoporphyrinogen IX metabolic process (GO:0046501)4.55689123
8regulation of platelet aggregation (GO:0090330)4.48567570
9neutrophil activation (GO:0042119)4.33460088
10regulation of integrin-mediated signaling pathway (GO:2001044)4.32298810
11negative regulation of homotypic cell-cell adhesion (GO:0034111)4.31856090
12lipoxygenase pathway (GO:0019372)4.31408103
13leukocyte migration involved in inflammatory response (GO:0002523)4.28436024
14adenosine receptor signaling pathway (GO:0001973)4.23454402
15platelet aggregation (GO:0070527)4.01911586
16negative regulation of norepinephrine secretion (GO:0010700)3.95435825
17superoxide anion generation (GO:0042554)3.93903065
18* bicarbonate transport (GO:0015701)3.91004031
19negative regulation of heart rate (GO:0010459)3.88381635
20antibacterial humoral response (GO:0019731)3.88090622
21G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.85067420
22granulocyte activation (GO:0036230)3.84567912
23positive regulation of endothelial cell differentiation (GO:0045603)3.83827722
24regulation of integrin activation (GO:0033623)3.83348380
25nucleoside diphosphate biosynthetic process (GO:0009133)3.82663376
26positive regulation of systemic arterial blood pressure (GO:0003084)3.82314319
27fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.81775322
28ether lipid metabolic process (GO:0046485)3.77071750
29negative regulation of thymocyte apoptotic process (GO:0070244)3.76370055
30phospholipid homeostasis (GO:0055091)3.75127056
31low-density lipoprotein particle remodeling (GO:0034374)3.72766705
32polyamine biosynthetic process (GO:0006596)3.67474619
33sperm capacitation (GO:0048240)3.56542883
34negative regulation of platelet activation (GO:0010544)3.52255060
35antimicrobial humoral response (GO:0019730)3.51288830
36innate immune response in mucosa (GO:0002227)3.51081260
37angiogenesis involved in wound healing (GO:0060055)3.50758060
38sulfate transmembrane transport (GO:1902358)3.45840460
39negative regulation of macrophage derived foam cell differentiation (GO:0010745)3.45555675
40protoporphyrinogen IX biosynthetic process (GO:0006782)3.41861477
41fusion of sperm to egg plasma membrane (GO:0007342)3.41216109
42negative regulation of appetite (GO:0032099)3.32715731
43negative regulation of response to food (GO:0032096)3.32715731
44fatty acid elongation (GO:0030497)3.31099207
45platelet degranulation (GO:0002576)3.23270608
46positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.22789389
47mitochondrial calcium ion transport (GO:0006851)3.16512888
48regulation of Golgi to plasma membrane protein transport (GO:0042996)3.10830511
49purinergic nucleotide receptor signaling pathway (GO:0035590)3.10119126
50cyclooxygenase pathway (GO:0019371)3.09542525
51positive regulation of mast cell activation (GO:0033005)3.07929540
52negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)3.04331953
53* regulation of intracellular pH (GO:0051453)3.03911427
54negative regulation of protein localization to cell surface (GO:2000009)3.03686139
55pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.01981520
56oxygen transport (GO:0015671)3.01860773
57positive regulation of blood coagulation (GO:0030194)3.01809505
58positive regulation of hemostasis (GO:1900048)3.01809505
59beta-amyloid metabolic process (GO:0050435)3.00360648
60sulfate transport (GO:0008272)3.00203391
61cellular glucuronidation (GO:0052695)2.98186152
62homotypic cell-cell adhesion (GO:0034109)2.96268836
63bile acid and bile salt transport (GO:0015721)2.96043887
64positive regulation of receptor recycling (GO:0001921)2.94307193
65regulation of superoxide anion generation (GO:0032928)2.93203478
66autophagic vacuole fusion (GO:0000046)2.92495902
67positive regulation of Rho protein signal transduction (GO:0035025)2.90914720
68regulation of macrophage derived foam cell differentiation (GO:0010743)2.90769176
69platelet formation (GO:0030220)2.90754313
70negative regulation of heart contraction (GO:0045822)2.90469976
71* regulation of cellular pH (GO:0030641)2.90351308
72positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)2.89711317
73glycosphingolipid catabolic process (GO:0046479)2.85276250
74positive regulation of coagulation (GO:0050820)2.85006183
75uronic acid metabolic process (GO:0006063)2.84125226
76glucuronate metabolic process (GO:0019585)2.84125226
77mucosal immune response (GO:0002385)2.82394261
78G-protein coupled purinergic receptor signaling pathway (GO:0035588)2.82252929
79megakaryocyte development (GO:0035855)2.81992407
80L-phenylalanine catabolic process (GO:0006559)2.77565887
81erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.77565887
82hemoglobin metabolic process (GO:0020027)2.77157275
83gas transport (GO:0015669)2.76564555
84cellular biogenic amine biosynthetic process (GO:0042401)2.75919967
85regulation of inositol phosphate biosynthetic process (GO:0010919)2.75677781
86regulation of homotypic cell-cell adhesion (GO:0034110)2.71900968
87organ or tissue specific immune response (GO:0002251)2.71743913
88regulation of receptor recycling (GO:0001919)2.70273567
89* one-carbon metabolic process (GO:0006730)2.69423848
90regulation of endothelial cell differentiation (GO:0045601)2.68884382
91cellular response to arsenic-containing substance (GO:0071243)2.68613758
92amine biosynthetic process (GO:0009309)2.68492030
93porphyrin-containing compound biosynthetic process (GO:0006779)2.66598031
94glycerol ether metabolic process (GO:0006662)2.65840209
95hydrogen peroxide catabolic process (GO:0042744)2.65329491
96positive regulation of macrophage differentiation (GO:0045651)2.64781067
97regulation of lipoprotein metabolic process (GO:0050746)2.64495198
98negative regulation of protein localization to plasma membrane (GO:1903077)2.64178294
99myeloid cell development (GO:0061515)2.64075485
100platelet activation (GO:0030168)2.63817892

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SCL_19346495_ChIP-Seq_HPC-7_Human3.97262680
2SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human3.83895932
3GATA1_19941826_ChIP-Seq_K562_Human3.44590941
4LYL1_20887958_ChIP-Seq_HPC-7_Mouse3.33953746
5CDX2_19796622_ChIP-Seq_MESCs_Mouse3.29056398
6GATA2_19941826_ChIP-Seq_K562_Human2.85108475
7GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.84893686
8CDX2_20551321_ChIP-Seq_CACO-2_Human2.77824365
9GATA1_22025678_ChIP-Seq_K562_Human2.61870211
10MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.59062579
11MYB_21317192_ChIP-Seq_ERMYB_Mouse2.44746512
12GATA1_19941827_ChIP-Seq_MEL_Mouse2.43640988
13Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.28987344
14LMO2_20887958_ChIP-Seq_HPC-7_Mouse2.27149554
15GATA1_22383799_ChIP-Seq_G1ME_Mouse2.25900619
16RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.23206179
17TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse2.21739695
18ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.19719693
19HTT_18923047_ChIP-ChIP_STHdh_Human2.18833172
20EGR1_23403033_ChIP-Seq_LIVER_Mouse2.06683479
21STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.90829154
22EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.88755345
23IRF8_21731497_ChIP-ChIP_J774_Mouse1.80907105
24PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.78952385
25RXR_22158963_ChIP-Seq_LIVER_Mouse1.78300851
26GATA4_25053715_ChIP-Seq_YYC3_Human1.77964091
27SOX2_27498859_Chip-Seq_STOMACH_Mouse1.77304243
28NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.71095720
29* SOX2_20726797_ChIP-Seq_SW620_Human1.70085847
30SRY_22984422_ChIP-ChIP_TESTIS_Rat1.68323131
31CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.66200701
32KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.61791104
33SPI1_23127762_ChIP-Seq_K562_Human1.59988604
34GATA6_21074721_ChIP-Seq_CACO-2_Human1.59598068
35PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.58356152
36RBPJ_21746931_ChIP-Seq_IB4_Human1.58327239
37IRF8_27001747_Chip-Seq_BMDM_Mouse1.57146629
38GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.53642961
39CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.53423025
40SALL4_22934838_ChIP-ChIP_CD34+_Human1.53212940
41HNFA_21074721_ChIP-Seq_CACO-2_Human1.53138085
42PPARA_22158963_ChIP-Seq_LIVER_Mouse1.51585469
43GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.50570727
44GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.49609237
45STAT1_20625510_ChIP-Seq_HELA_Human1.48656948
46PHF8_20622853_ChIP-Seq_HELA_Human1.44282249
47CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.42322962
48LXR_22158963_ChIP-Seq_LIVER_Mouse1.41693089
49SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.41106367
50TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.39257218
51* GATA6_25053715_ChIP-Seq_YYC3_Human1.35956497
52CEBPB_22108803_ChIP-Seq_LS180_Human1.33943731
53GATA2_22383799_ChIP-Seq_G1ME_Mouse1.32638710
54GATA2_21666600_ChIP-Seq_HMVEC_Human1.32104702
55HOXB4_20404135_ChIP-ChIP_EML_Mouse1.30687373
56PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.30644378
57RUNX1_22412390_ChIP-Seq_EML_Mouse1.26975161
58SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.25582875
59ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.25138439
60NFYA_21822215_ChIP-Seq_K562_Human1.22467692
61* VDR_24763502_ChIP-Seq_THP-1_Human1.21464543
62TCF4_18268006_ChIP-ChIP_LS174T_Human1.20968001
63* CDX2_22108803_ChIP-Seq_LS180_Human1.20123963
64E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.19908582
65EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.18762238
66MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.13564729
67CBX2_22325352_ChIP-Seq_293T-Rex_Human1.12953010
68AR_21909140_ChIP-Seq_LNCAP_Human1.11229344
69CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.10965747
70SPI1_23547873_ChIP-Seq_NB4_Human1.10750108
71FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.09121295
72NFYB_21822215_ChIP-Seq_K562_Human1.08757462
73CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.08273481
74PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.08123116
75GATA1_19941827_ChIP-Seq_MEL86_Mouse1.07872736
76ESR1_21235772_ChIP-Seq_MCF-7_Human1.06600390
77SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.05501606
78TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.05011066
79GATA3_21878914_ChIP-Seq_MCF-7_Human1.04547331
80IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.04358418
81ETV1_20927104_ChIP-Seq_GIST48_Human1.02576060
82ELF1_17652178_ChIP-ChIP_JURKAT_Human1.02383328
83ETS1_22383799_ChIP-Seq_G1ME_Mouse1.02104073
84PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.99711481
85AR_20517297_ChIP-Seq_VCAP_Human0.99199698
86CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.98945368
87FOXO3_23340844_ChIP-Seq_DLD1_Human0.98097876
88EZH2_27294783_Chip-Seq_NPCs_Mouse0.95575646
89CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.93654180
90TAF15_26573619_Chip-Seq_HEK293_Human0.91851439
91BRD4_27068464_Chip-Seq_AML-cells_Mouse0.90289854
92TBL1_22424771_ChIP-Seq_293T_Human0.89874027
93PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.89445765
94SPI1_20517297_ChIP-Seq_HL60_Human0.87777821
95NANOG_20526341_ChIP-Seq_ESCs_Human0.86343292
96ESR2_21235772_ChIP-Seq_MCF-7_Human0.84736964
97NCOR1_26117541_ChIP-Seq_K562_Human0.82260210
98IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.80398472
99PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.80107642
100PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.79751288

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005464_abnormal_platelet_physiology6.94598150
2MP0008004_abnormal_stomach_pH4.28363164
3MP0004147_increased_porphyrin_level4.23706120
4MP0002139_abnormal_hepatobiliary_system3.91887060
5MP0000465_gastrointestinal_hemorrhage3.08564530
6MP0003724_increased_susceptibility_to2.87716759
7MP0003656_abnormal_erythrocyte_physiolo2.76477791
8MP0005083_abnormal_biliary_tract2.64895205
9MP0003303_peritoneal_inflammation2.61838672
10MP0005365_abnormal_bile_salt2.37111812
11MP0005085_abnormal_gallbladder_physiolo2.27235198
12MP0002132_abnormal_respiratory_system2.22282390
13MP0000343_altered_response_to2.20424635
14MP0005058_abnormal_lysosome_morphology2.13869130
15MP0001664_abnormal_digestion2.05408976
16MP0003866_abnormal_defecation2.03580246
17MP0001663_abnormal_digestive_system2.00948513
18MP0000490_abnormal_crypts_of1.89049902
19MP0000579_abnormal_nail_morphology1.87826730
20MP0005636_abnormal_mineral_homeostasis1.81712098
21MP0009379_abnormal_foot_pigmentation1.71845008
22MP0001765_abnormal_ion_homeostasis1.69896004
23MP0004043_abnormal_pH_regulation1.64967954
24MP0005397_hematopoietic_system_phenotyp1.61189589
25MP0001545_abnormal_hematopoietic_system1.61189589
26MP0010155_abnormal_intestine_physiology1.58614380
27MP0005381_digestive/alimentary_phenotyp1.58307268
28MP0002736_abnormal_nociception_after1.54110729
29MP0005187_abnormal_penis_morphology1.53174253
30MP0005501_abnormal_skin_physiology1.52316596
31MP0006036_abnormal_mitochondrial_physio1.52198309
32MP0008872_abnormal_physiological_respon1.50861846
33MP0000230_abnormal_systemic_arterial1.48782361
34MP0003638_abnormal_response/metabolism_1.40890643
35MP0006082_CNS_inflammation1.34266111
36MP0005410_abnormal_fertilization1.33922778
37MP0002138_abnormal_hepatobiliary_system1.33340584
38MP0003186_abnormal_redox_activity1.30622186
39MP0001851_eye_inflammation1.23602249
40MP0005084_abnormal_gallbladder_morpholo1.22945984
41MP0003828_pulmonary_edema1.20642090
42MP0000477_abnormal_intestine_morphology1.18526178
43MP0002796_impaired_skin_barrier1.16031505
44MP0005646_abnormal_pituitary_gland1.14383360
45MP0002148_abnormal_hypersensitivity_rea1.13685453
46MP0006054_spinal_hemorrhage1.13174121
47MP0001849_ear_inflammation1.10025607
48MP0010329_abnormal_lipoprotein_level1.07206580
49MP0003806_abnormal_nucleotide_metabolis1.04688777
50MP0001756_abnormal_urination1.04593532
51MP0003011_delayed_dark_adaptation1.04528365
52MP0003252_abnormal_bile_duct1.04496124
53MP0001661_extended_life_span1.03569510
54MP0008775_abnormal_heart_ventricle1.02001619
55MP0003879_abnormal_hair_cell1.00402482
56MP0005165_increased_susceptibility_to0.99757126
57MP0009765_abnormal_xenobiotic_induced0.99169832
58MP0003566_abnormal_cell_adhesion0.96799403
59MP0005167_abnormal_blood-brain_barrier0.95050490
60MP0008260_abnormal_autophagy0.95046227
61MP0004215_abnormal_myocardial_fiber0.94273297
62MP0009053_abnormal_anal_canal0.94123684
63MP0010234_abnormal_vibrissa_follicle0.91359712
64MP0009785_altered_susceptibility_to0.90814809
65MP0010678_abnormal_skin_adnexa0.89824215
66MP0008875_abnormal_xenobiotic_pharmacok0.89083393
67MP0001764_abnormal_homeostasis0.88962107
68MP0005025_abnormal_response_to0.87577814
69MP0009333_abnormal_splenocyte_physiolog0.87269658
70MP0000467_abnormal_esophagus_morphology0.85884590
71MP0000249_abnormal_blood_vessel0.85417907
72MP0003453_abnormal_keratinocyte_physiol0.82646277
73MP0001835_abnormal_antigen_presentation0.81354672
74MP0004947_skin_inflammation0.80898754
75MP0001533_abnormal_skeleton_physiology0.80694948
76MP0005670_abnormal_white_adipose0.80470879
77MP0001879_abnormal_lymphatic_vessel0.80357106
78MP0005666_abnormal_adipose_tissue0.80136468
79MP0008874_decreased_physiological_sensi0.80096140
80MP0009763_increased_sensitivity_to0.77927637
81MP0000383_abnormal_hair_follicle0.77693911
82MP0009764_decreased_sensitivity_to0.77446087
83MP0002118_abnormal_lipid_homeostasis0.76109074
84MP0005409_darkened_coat_color0.75669236
85MP0002098_abnormal_vibrissa_morphology0.73017303
86MP0002419_abnormal_innate_immunity0.72249039
87MP0003195_calcinosis0.70320546
88MP0005166_decreased_susceptibility_to0.68757675
89MP0009643_abnormal_urine_homeostasis0.68171256
90MP0001845_abnormal_inflammatory_respons0.68021966
91MP0009642_abnormal_blood_homeostasis0.68008717
92MP0005332_abnormal_amino_acid0.66944054
93MP0000015_abnormal_ear_pigmentation0.65495611
94MP0005319_abnormal_enzyme/_coenzyme0.63708957
95MP0005647_abnormal_sex_gland0.63287246
96MP0002398_abnormal_bone_marrow0.61686880
97MP0004084_abnormal_cardiac_muscle0.61140680
98MP0000598_abnormal_liver_morphology0.61070064
99MP0004130_abnormal_muscle_cell0.60630901
100MP0002429_abnormal_blood_cell0.57487798

Predicted human phenotypes

RankGene SetZ-score
1Petechiae (HP:0000967)8.14713353
2Prolonged bleeding time (HP:0003010)7.60672598
3Increased mean platelet volume (HP:0011877)7.28120203
4Abnormal platelet volume (HP:0011876)6.70144211
5Menorrhagia (HP:0000132)6.32953173
6Purpura (HP:0000979)6.26563160
7Hyperactive renin-angiotensin system (HP:0000841)5.56010517
8Epistaxis (HP:0000421)5.17292185
9Metabolic alkalosis (HP:0200114)5.00928384
10Gingival bleeding (HP:0000225)4.71994719
11Abnormality of the heme biosynthetic pathway (HP:0010472)4.65894912
12Poikilocytosis (HP:0004447)4.64655012
13Hyperlipoproteinemia (HP:0010980)3.99902196
14Abnormal platelet function (HP:0011869)3.99493594
15Impaired platelet aggregation (HP:0003540)3.99493594
16Acanthocytosis (HP:0001927)3.89238996
17Abnormality of renin-angiotensin system (HP:0000847)3.82909187
18* Paralysis (HP:0003470)3.45427624
19Dyschromatopsia (HP:0007641)3.21545656
20Increased neuronal autofluorescent lipopigment (HP:0002074)3.12782576
21Hyperaldosteronism (HP:0000859)3.07394345
22Decreased circulating renin level (HP:0003351)3.05786023
23Hyponatremia (HP:0002902)3.05754303
24Polycythemia (HP:0001901)3.01723198
25Nausea (HP:0002018)3.01015443
26Conjunctival telangiectasia (HP:0000524)2.99778839
27Increased cerebral lipofuscin (HP:0011813)2.92797215
28Abnormality of chloride homeostasis (HP:0011422)2.86768618
29Spontaneous hematomas (HP:0007420)2.78683921
30Generalized aminoaciduria (HP:0002909)2.77499918
31Abnormality of the vasculature of the conjunctiva (HP:0008054)2.76556813
32Alkalosis (HP:0001948)2.69415051
33Abnormality of sodium homeostasis (HP:0010931)2.68555682
343-Methylglutaconic aciduria (HP:0003535)2.62108344
35Ileus (HP:0002595)2.53324166
36Irregular epiphyses (HP:0010582)2.37465349
37Intrahepatic cholestasis (HP:0001406)2.34910358
38Abnormality of monocarboxylic acid metabolism (HP:0010996)2.28345539
39Cerebral hemorrhage (HP:0001342)2.21522117
40Tinnitus (HP:0000360)2.18497285
41Spontaneous abortion (HP:0005268)2.14652247
42Hypokalemia (HP:0002900)2.11775719
43Abnormality of iron homeostasis (HP:0011031)2.11594043
44* Hepatosplenomegaly (HP:0001433)2.06191158
45Xanthomatosis (HP:0000991)2.04966264
46Flattened epiphyses (HP:0003071)2.04110656
47Abnormality of magnesium homeostasis (HP:0004921)2.03361634
48Joint swelling (HP:0001386)2.03206597
49Conjugated hyperbilirubinemia (HP:0002908)2.00573100
50Abnormality of lateral ventricle (HP:0030047)1.99074892
51Vertebral hypoplasia (HP:0008417)1.95793971
52Aplasia/Hypoplasia of the vertebrae (HP:0008515)1.95793971
53Cholelithiasis (HP:0001081)1.89835088
54Short middle phalanx of the 5th finger (HP:0004220)1.88755301
55Flat acetabular roof (HP:0003180)1.87855286
56Abnormality of alanine metabolism (HP:0010916)1.87768026
57Hyperalaninemia (HP:0003348)1.87768026
58Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.87768026
59Abnormal pupillary function (HP:0007686)1.87601328
60Decreased central vision (HP:0007663)1.86686817
61Hypochromic microcytic anemia (HP:0004840)1.86002344
62Abnormality of the distal phalanx of the thumb (HP:0009617)1.85772570
63Abnormality of the common coagulation pathway (HP:0010990)1.85739939
64Hyperbilirubinemia (HP:0002904)1.85706007
65Acute encephalopathy (HP:0006846)1.82541756
66Hypomagnesemia (HP:0002917)1.82500282
67Increased circulating renin level (HP:0000848)1.81827470
68Abnormal tarsal ossification (HP:0008369)1.81503456
69Abnormal spermatogenesis (HP:0008669)1.80866255
70Abnormality of transition element cation homeostasis (HP:0011030)1.78854571
71Bruising susceptibility (HP:0000978)1.78655036
72Abnormal mitochondria in muscle tissue (HP:0008316)1.76660867
73Abnormal gallbladder physiology (HP:0012438)1.76033246
74Cholecystitis (HP:0001082)1.76033246
75Abnormality of macrophages (HP:0004311)1.75830277
76Hyperammonemia (HP:0001987)1.74934910
77Adrenal overactivity (HP:0002717)1.73664434
78Microcytic anemia (HP:0001935)1.73559871
79Abnormal gallbladder morphology (HP:0012437)1.73368671
80Acute necrotizing encephalopathy (HP:0006965)1.69468590
81Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.68269268
82Abnormality of potassium homeostasis (HP:0011042)1.68153050
83Congenital, generalized hypertrichosis (HP:0004540)1.67249011
84Male infertility (HP:0003251)1.66272487
85Recurrent abscess formation (HP:0002722)1.65969259
86Vacuolated lymphocytes (HP:0001922)1.65228388
87Increased serum ferritin (HP:0003281)1.58861729
88Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.58087951
89Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.57479017
90Decreased activity of mitochondrial respiratory chain (HP:0008972)1.57479017
91Abnormal biliary tract morphology (HP:0012440)1.56842407
92Myocardial infarction (HP:0001658)1.56796918
93Abnormality of the distal phalanges of the toes (HP:0010182)1.56610837
94Ventricular fibrillation (HP:0001663)1.54823383
95Abnormal cartilage morphology (HP:0002763)1.54781306
96Loss of speech (HP:0002371)1.54744549
97Gonadal dysgenesis (HP:0000133)1.54338033
98Symphalangism affecting the phalanges of the hand (HP:0009773)1.54209921
99Abnormal auditory evoked potentials (HP:0006958)1.53471225
100Abnormality of fatty-acid metabolism (HP:0004359)1.52597201

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST44.70999486
2RIPK44.25793274
3EIF2AK14.16391015
4PIK3CA3.69787217
5LMTK23.23082383
6ACVR1B2.93897667
7BMX2.93524037
8PDK22.59744780
9MYLK2.42670149
10TEC2.41030782
11ILK1.96167315
12PIK3CG1.82909109
13PIM21.80808894
14NEK11.70415896
15GRK61.65531359
16TRIM281.50432127
17BTK1.50198076
18PTK2B1.49561096
19PNCK1.40521691
20PBK1.39389729
21PLK41.36593251
22TESK21.29387061
23SYK1.27407737
24NME21.26860417
25BMPR21.25854476
26TAOK31.21905724
27FGR1.20183621
28STK391.19738931
29TNIK1.19202101
30CSF1R1.12792786
31GRK51.09217259
32ARAF1.09156617
33OXSR11.08312953
34MAP3K121.05623060
35ZAP701.03806229
36IKBKB1.03400127
37MST1R0.97961606
38MAP2K30.97455599
39BUB10.97255899
40STK240.95306101
41BCKDK0.94076397
42EPHA20.93890152
43ABL20.93149238
44PAK10.91649137
45FES0.91497424
46PLK20.90264429
47PKN10.88153568
48STK40.85703327
49MAPKAPK30.85112019
50PDPK10.83833374
51LYN0.83289645
52SIK30.80830025
53EPHB20.80275826
54ERBB20.78941925
55STK30.78105067
56PRKG20.77125021
57BRSK20.76849905
58STK160.76713215
59TAOK10.76304732
60PDK10.75360867
61MAP3K50.71808339
62CAMKK20.71143853
63DAPK30.68157704
64MAP3K30.68112415
65PRKACG0.64954221
66MAPK120.64884674
67BMPR1B0.63476942
68TAOK20.61842983
69ADRBK10.59671572
70LRRK20.58778157
71ADRBK20.52724868
72PIM10.52568993
73PRKCQ0.52326099
74ZAK0.49755323
75NUAK10.48117122
76MINK10.47055902
77CAMK2G0.44041878
78HCK0.43697655
79FER0.43584588
80JAK20.42074319
81IRAK10.41514358
82KDR0.40822851
83MATK0.40722336
84PRKCD0.40505772
85BRAF0.40043355
86PRKCA0.40037146
87CAMK2D0.39378993
88PLK30.37349956
89DAPK10.35440896
90MAP3K110.35379634
91PRKD10.34956654
92RET0.33736920
93MARK30.33247102
94DMPK0.33148008
95MAP2K10.33012509
96STK100.32860234
97TNK20.32695481
98BLK0.32585629
99ERBB40.32025538
100PRKCB0.31614147

Predicted pathways (KEGG)

RankGene SetZ-score
1Sulfur metabolism_Homo sapiens_hsa009205.08032486
2* Nitrogen metabolism_Homo sapiens_hsa009104.29358785
3Fatty acid elongation_Homo sapiens_hsa000623.18072045
4Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008602.77213564
5Platelet activation_Homo sapiens_hsa046112.74115978
6Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.32462041
7Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.29107455
8Pentose and glucuronate interconversions_Homo sapiens_hsa000402.23745343
9Caffeine metabolism_Homo sapiens_hsa002322.09082490
10* Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.04846152
11Drug metabolism - other enzymes_Homo sapiens_hsa009831.98803169
12SNARE interactions in vesicular transport_Homo sapiens_hsa041301.97909372
13Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.95900843
14Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.85381737
15Primary bile acid biosynthesis_Homo sapiens_hsa001201.82449905
16Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.81813943
17Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.81061597
18Steroid hormone biosynthesis_Homo sapiens_hsa001401.70221664
19Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.66909243
20Fatty acid degradation_Homo sapiens_hsa000711.66027698
21Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.63151905
22Sulfur relay system_Homo sapiens_hsa041221.60411557
23Arachidonic acid metabolism_Homo sapiens_hsa005901.57775657
24Arginine and proline metabolism_Homo sapiens_hsa003301.53052763
25Retinol metabolism_Homo sapiens_hsa008301.51600490
26Glutathione metabolism_Homo sapiens_hsa004801.49822793
27PPAR signaling pathway_Homo sapiens_hsa033201.46227346
28Starch and sucrose metabolism_Homo sapiens_hsa005001.43877748
29Oxidative phosphorylation_Homo sapiens_hsa001901.42219899
30Chemical carcinogenesis_Homo sapiens_hsa052041.41256918
31Parkinsons disease_Homo sapiens_hsa050121.39957442
32Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.38642585
33Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.37571284
34Mineral absorption_Homo sapiens_hsa049781.32758439
35* Collecting duct acid secretion_Homo sapiens_hsa049661.25585785
36Fatty acid metabolism_Homo sapiens_hsa012121.22648393
37Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.21904851
38Glycerolipid metabolism_Homo sapiens_hsa005611.17779232
39* Bile secretion_Homo sapiens_hsa049761.09349378
40* Pancreatic secretion_Homo sapiens_hsa049721.05813089
41Fat digestion and absorption_Homo sapiens_hsa049750.99700551
42Renin-angiotensin system_Homo sapiens_hsa046140.97721847
43beta-Alanine metabolism_Homo sapiens_hsa004100.95650023
44Histidine metabolism_Homo sapiens_hsa003400.91473962
45Cysteine and methionine metabolism_Homo sapiens_hsa002700.91277108
46Propanoate metabolism_Homo sapiens_hsa006400.89982749
47Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.87971261
48Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.85844817
49Pyruvate metabolism_Homo sapiens_hsa006200.84985392
50Cyanoamino acid metabolism_Homo sapiens_hsa004600.84312684
51Butanoate metabolism_Homo sapiens_hsa006500.83212059
52Galactose metabolism_Homo sapiens_hsa000520.80631279
53Lysosome_Homo sapiens_hsa041420.80155810
54Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.79708388
55alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.79188680
56Hematopoietic cell lineage_Homo sapiens_hsa046400.77786440
57Sphingolipid metabolism_Homo sapiens_hsa006000.77285235
58Peroxisome_Homo sapiens_hsa041460.74056559
59Malaria_Homo sapiens_hsa051440.73946067
60Systemic lupus erythematosus_Homo sapiens_hsa053220.73457647
61ECM-receptor interaction_Homo sapiens_hsa045120.72518809
62Pentose phosphate pathway_Homo sapiens_hsa000300.68624329
63Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.66578755
64Huntingtons disease_Homo sapiens_hsa050160.66058440
65Leukocyte transendothelial migration_Homo sapiens_hsa046700.65091784
66Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.64157993
67Endocytosis_Homo sapiens_hsa041440.63796526
68Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.63170339
69Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.62963825
70Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.62603116
71Alzheimers disease_Homo sapiens_hsa050100.61203197
72Metabolic pathways_Homo sapiens_hsa011000.59198676
73Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.59103094
74Chemokine signaling pathway_Homo sapiens_hsa040620.54458407
75Gap junction_Homo sapiens_hsa045400.53706146
76Carbon metabolism_Homo sapiens_hsa012000.52542105
77Alcoholism_Homo sapiens_hsa050340.52020370
78Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.49843654
79Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.49238934
80Linoleic acid metabolism_Homo sapiens_hsa005910.47662329
81Vibrio cholerae infection_Homo sapiens_hsa051100.45079559
82Purine metabolism_Homo sapiens_hsa002300.44904731
83Glycerophospholipid metabolism_Homo sapiens_hsa005640.44618171
84Legionellosis_Homo sapiens_hsa051340.43733213
85Pyrimidine metabolism_Homo sapiens_hsa002400.43512338
86Tryptophan metabolism_Homo sapiens_hsa003800.42907476
87Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.41250598
88Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.40438574
89Serotonergic synapse_Homo sapiens_hsa047260.39864429
90One carbon pool by folate_Homo sapiens_hsa006700.38886655
91Choline metabolism in cancer_Homo sapiens_hsa052310.37508958
92Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.36374174
93Vascular smooth muscle contraction_Homo sapiens_hsa042700.35965023
94Other glycan degradation_Homo sapiens_hsa005110.34588771
95Phagosome_Homo sapiens_hsa041450.33401970
96HIF-1 signaling pathway_Homo sapiens_hsa040660.32419956
97Ether lipid metabolism_Homo sapiens_hsa005650.31877935
98Mismatch repair_Homo sapiens_hsa034300.31720032
99Shigellosis_Homo sapiens_hsa051310.29597368
100Tyrosine metabolism_Homo sapiens_hsa003500.28996787

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