CA9

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 IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1peptidyl-proline hydroxylation (GO:0019511)6.96020905
24-hydroxyproline metabolic process (GO:0019471)6.75869689
3protein hydroxylation (GO:0018126)5.90491197
4glucose 6-phosphate metabolic process (GO:0051156)5.51228951
5maintenance of protein localization in endoplasmic reticulum (GO:0035437)5.39339413
6protein retention in ER lumen (GO:0006621)5.34150147
7peptidyl-glutamic acid carboxylation (GO:0017187)4.87688886
8protein carboxylation (GO:0018214)4.87688886
9glycolytic process (GO:0006096)4.61746646
10phosphate ion transmembrane transport (GO:0035435)4.48268974
11regulation of complement activation (GO:0030449)4.39155593
12desmosome organization (GO:0002934)4.33044632
13regulation of protein activation cascade (GO:2000257)4.32809769
14COPI coating of Golgi vesicle (GO:0048205)4.26912154
15Golgi transport vesicle coating (GO:0048200)4.26912154
16regulation of cholesterol homeostasis (GO:2000188)4.12506438
17very-low-density lipoprotein particle assembly (GO:0034379)4.03002360
18intestinal cholesterol absorption (GO:0030299)4.00006147
19proline biosynthetic process (GO:0006561)3.97590266
20negative regulation of lipase activity (GO:0060192)3.87212426
21basement membrane organization (GO:0071711)3.87025626
22proline metabolic process (GO:0006560)3.84330415
23plasma lipoprotein particle assembly (GO:0034377)3.81237945
24skin morphogenesis (GO:0043589)3.79510713
25GDP-mannose metabolic process (GO:0019673)3.78813786
26protein maturation by protein folding (GO:0022417)3.77400584
27phosphate ion transport (GO:0006817)3.65924445
28pinocytosis (GO:0006907)3.65886094
29regulation of apoptotic cell clearance (GO:2000425)3.65166292
30L-phenylalanine metabolic process (GO:0006558)3.62496817
31erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.62496817
32negative regulation of fibrinolysis (GO:0051918)3.59817683
33gluconeogenesis (GO:0006094)3.51648011
34positive regulation of extracellular matrix organization (GO:1903055)3.50650777
35regulation of cholesterol biosynthetic process (GO:0045540)3.50077171
36negative regulation of fatty acid biosynthetic process (GO:0045717)3.46336032
37hexose biosynthetic process (GO:0019319)3.45680280
38regulation of plasminogen activation (GO:0010755)3.43518065
39protein-lipid complex assembly (GO:0065005)3.43270641
40lung epithelium development (GO:0060428)3.37573702
41regulation of cholesterol esterification (GO:0010872)3.35942340
42urate metabolic process (GO:0046415)3.31872950
43drug transmembrane transport (GO:0006855)3.30172891
44lung vasculature development (GO:0060426)3.28257915
45endothelial cell morphogenesis (GO:0001886)3.23568289
46pyruvate metabolic process (GO:0006090)3.21528886
47regulation of bile acid biosynthetic process (GO:0070857)3.21171868
48cholesterol efflux (GO:0033344)3.17665916
49monosaccharide biosynthetic process (GO:0046364)3.16542903
50fructose metabolic process (GO:0006000)3.15024102
51negative regulation of protein activation cascade (GO:2000258)3.06174455
52low-density lipoprotein particle remodeling (GO:0034374)3.05033127
53erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.02372157
54L-phenylalanine catabolic process (GO:0006559)3.02372157
55regulation of extracellular matrix organization (GO:1903053)3.01891227
56artery smooth muscle contraction (GO:0014824)3.00774307
57mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.00153944
58regulation of metalloenzyme activity (GO:0048552)2.99531113
59hemidesmosome assembly (GO:0031581)2.99457343
60high-density lipoprotein particle remodeling (GO:0034375)2.97588315
61regulation of branching involved in ureteric bud morphogenesis (GO:0090189)2.96647269
62regulation of extracellular matrix disassembly (GO:0010715)2.95283695
63activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.95125321
64regulation of apoptotic process involved in morphogenesis (GO:1902337)2.93949909
65macromolecular complex remodeling (GO:0034367)2.93904048
66plasma lipoprotein particle remodeling (GO:0034369)2.93904048
67protein-lipid complex remodeling (GO:0034368)2.93904048
68cell adhesion mediated by integrin (GO:0033627)2.90167674
69surfactant homeostasis (GO:0043129)2.88710278
70regulation of cholesterol metabolic process (GO:0090181)2.86079937
71positive regulation of nuclease activity (GO:0032075)2.85972871
72COPII vesicle coating (GO:0048208)2.85593358
73nucleotide-sugar biosynthetic process (GO:0009226)2.84113417
74regulation of fibrinolysis (GO:0051917)2.83968526
75type B pancreatic cell proliferation (GO:0044342)2.82402221
76glutamine family amino acid biosynthetic process (GO:0009084)2.81737910
77retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.80253492
78fibrinolysis (GO:0042730)2.77797665
79plasma lipoprotein particle organization (GO:0071827)2.77436959
80nephron tubule formation (GO:0072079)2.67589893
81positive regulation of hormone metabolic process (GO:0032352)2.67059912
82complement activation, alternative pathway (GO:0006957)2.67008081
83negative regulation of complement activation (GO:0045916)2.65500540
84tonic smooth muscle contraction (GO:0014820)2.64638751
85intestinal absorption (GO:0050892)2.64443684
86negative regulation of metanephros development (GO:0072217)2.64441495
87regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)2.64413943
88reverse cholesterol transport (GO:0043691)2.63192397
89progesterone metabolic process (GO:0042448)2.63120143
90protein-lipid complex subunit organization (GO:0071825)2.63018489
91low-density lipoprotein particle clearance (GO:0034383)2.62906390
92endothelial cell chemotaxis (GO:0035767)2.60517396
93positive regulation of cellular amine metabolic process (GO:0033240)2.60248133
94response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.59775444
95myelin maintenance (GO:0043217)2.59771434
96nephron epithelium morphogenesis (GO:0072088)2.58940685
97nephron tubule morphogenesis (GO:0072078)2.58940685
98regulation of mesonephros development (GO:0061217)2.58176126
99glomerular visceral epithelial cell development (GO:0072015)2.56031998
100triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.54903439

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human5.60526675
2* HIF1A_21447827_ChIP-Seq_MCF-7_Human5.53259073
3ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.09492131
4TRIM28_21343339_ChIP-Seq_HEK293_Human3.87774409
5TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.40319962
6RARG_19884340_ChIP-ChIP_MEFs_Mouse3.26612081
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.18039808
8ZNF263_19887448_ChIP-Seq_K562_Human2.94411824
9CLOCK_20551151_ChIP-Seq_293T_Human2.55431297
10RXR_22158963_ChIP-Seq_LIVER_Mouse2.34137475
11THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.33136534
12RACK7_27058665_Chip-Seq_MCF-7_Human2.27813331
13PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.21581978
14LXR_22292898_ChIP-Seq_THP-1_Human2.17999354
15NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.17938721
16SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.10139512
17PPARA_22158963_ChIP-Seq_LIVER_Mouse2.05674265
18ESR2_21235772_ChIP-Seq_MCF-7_Human2.04309828
19TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.90792568
20ATF3_27146783_Chip-Seq_COLON_Human1.87203480
21ESR1_15608294_ChIP-ChIP_MCF-7_Human1.87173697
22EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.82306004
23ELK3_25401928_ChIP-Seq_HUVEC_Human1.79018639
24ESR1_21235772_ChIP-Seq_MCF-7_Human1.72205444
25KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.71151095
26* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.64466615
27NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.59499998
28DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.56246943
29KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.54945589
30TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.54874653
31LXR_22158963_ChIP-Seq_LIVER_Mouse1.51979249
32HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.50571359
33KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.49401791
34TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.47069705
35RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.46974288
36NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.42041278
37AR_21909140_ChIP-Seq_LNCAP_Human1.40664437
38TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.39464039
39TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.38790105
40SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.38065264
41PPAR_26484153_Chip-Seq_NCI-H1993_Human1.36397489
42HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.36277510
43P300_27058665_Chip-Seq_ZR-75-30cells_Human1.35132262
44POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.34272307
45ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.33685239
46SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.33399483
47SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.33399483
48ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.30695738
49UBF1/2_26484160_Chip-Seq_HMECs_Human1.30388491
50MYC_18555785_ChIP-Seq_MESCs_Mouse1.27685206
51SRY_22984422_ChIP-ChIP_TESTIS_Rat1.27413268
52GATA6_25053715_ChIP-Seq_YYC3_Human1.23577283
53KLF4_18555785_ChIP-Seq_MESCs_Mouse1.22386490
54ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.22075345
55ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.21840825
56NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.21648468
57KDM2B_26808549_Chip-Seq_K562_Human1.21431359
58PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.21231984
59P63_26484246_Chip-Seq_KERATINOCYTES_Human1.19738244
60FOXA2_19822575_ChIP-Seq_HepG2_Human1.19397474
61KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.19208867
62CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.19071011
63TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.18624452
64WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.16344912
65SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.15749414
66* TP53_22127205_ChIP-Seq_IMR90_Human1.15513605
67TET1_21451524_ChIP-Seq_MESCs_Mouse1.14976593
68CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.14716519
69FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.12696806
70* SMC4_20622854_ChIP-Seq_HELA_Human1.12173356
71CDX2_20551321_ChIP-Seq_CACO-2_Human1.11699685
72EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.11546909
73SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.11434052
74E2F7_22180533_ChIP-Seq_HELA_Human1.11309349
75ZFP281_18757296_ChIP-ChIP_E14_Mouse1.09840141
76* P68_20966046_ChIP-Seq_HELA_Human1.09225083
77SOX2_20726797_ChIP-Seq_SW620_Human1.09027240
78MYC_18358816_ChIP-ChIP_MESCs_Mouse1.08481913
79MYC_19079543_ChIP-ChIP_MESCs_Mouse1.08418828
80ERG_21242973_ChIP-ChIP_JURKAT_Human1.06977458
81SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.04573380
82CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.04143024
83ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.03790114
84RUNX1_27514584_Chip-Seq_MCF-7_Human1.02080610
85EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.01670380
86SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.01504297
87SA1_27219007_Chip-Seq_ERYTHROID_Human1.00434675
88TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.00002054
89SOX2_27498859_Chip-Seq_STOMACH_Mouse0.99548520
90CTCF_27219007_Chip-Seq_ERYTHROID_Human0.99172392
91RARA_24833708_ChIP-Seq_LIVER_Mouse0.99044243
92CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.97106662
93RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.96985099
94STAT3_1855785_ChIP-Seq_MESCs_Mouse0.95772473
95CREB1_26743006_Chip-Seq_LNCaP_Human0.95218681
96ZFX_18555785_ChIP-Seq_MESCs_Mouse0.94998038
97NCOR1_26117541_ChIP-Seq_K562_Human0.94977606
98XRN2_22483619_ChIP-Seq_HELA_Human0.93006814
99DNAJC2_21179169_ChIP-ChIP_NT2_Human0.92072086
100SALL4_18804426_ChIP-ChIP_XEN_Mouse0.91258842

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen4.71804259
2MP0002139_abnormal_hepatobiliary_system4.22034272
3MP0005360_urolithiasis3.73002059
4MP0004272_abnormal_basement_membrane3.63192234
5MP0003950_abnormal_plasma_membrane2.94502250
6MP0010234_abnormal_vibrissa_follicle2.84455253
7MP0005257_abnormal_intraocular_pressure2.73715037
8MP0003123_paternal_imprinting2.71762144
9MP0003566_abnormal_cell_adhesion2.39884351
10MP0000566_synostosis2.34544880
11MP0005365_abnormal_bile_salt2.17044240
12MP0000003_abnormal_adipose_tissue2.09733754
13MP0005058_abnormal_lysosome_morphology2.05504326
14MP0005451_abnormal_body_composition2.04153032
15MP0003122_maternal_imprinting2.03669579
16MP0002060_abnormal_skin_morphology1.96502334
17MP0003191_abnormal_cellular_cholesterol1.93455697
18MP0005409_darkened_coat_color1.92343544
19MP0009840_abnormal_foam_cell1.84255520
20MP0003705_abnormal_hypodermis_morpholog1.82801199
21MP0005023_abnormal_wound_healing1.82402549
22MP0009780_abnormal_chondrocyte_physiolo1.81808368
23MP0000762_abnormal_tongue_morphology1.72098077
24MP0000678_abnormal_parathyroid_gland1.71590753
25MP0003315_abnormal_perineum_morphology1.70000211
26MP0001666_abnormal_nutrient_absorption1.69682073
27MP0004264_abnormal_extraembryonic_tissu1.67625848
28MP0002089_abnormal_postnatal_growth/wei1.64256694
29MP0010329_abnormal_lipoprotein_level1.62714681
30MP0002877_abnormal_melanocyte_morpholog1.62462223
31MP0002796_impaired_skin_barrier1.61957594
32MP0005083_abnormal_biliary_tract1.60377548
33MP0003453_abnormal_keratinocyte_physiol1.58538479
34MP0004233_abnormal_muscle_weight1.54175228
35MP0008875_abnormal_xenobiotic_pharmacok1.52201604
36MP0008260_abnormal_autophagy1.40593807
37MP0005375_adipose_tissue_phenotype1.39747928
38MP0005275_abnormal_skin_tensile1.36298151
39MP0005408_hypopigmentation1.34684147
40MP0001915_intracranial_hemorrhage1.34303184
41MP0000579_abnormal_nail_morphology1.33693958
42MP0004019_abnormal_vitamin_homeostasis1.30792647
43MP0005666_abnormal_adipose_tissue1.27106228
44MP0001849_ear_inflammation1.26891683
45MP0003195_calcinosis1.26124970
46MP0005501_abnormal_skin_physiology1.24930513
47MP0000467_abnormal_esophagus_morphology1.23658695
48MP0005332_abnormal_amino_acid1.21965003
49MP0003942_abnormal_urinary_system1.18129582
50MP0000013_abnormal_adipose_tissue1.16130314
51MP0003879_abnormal_hair_cell1.06848123
52MP0005085_abnormal_gallbladder_physiolo1.06824480
53MP0003011_delayed_dark_adaptation1.06540389
54MP0005076_abnormal_cell_differentiation1.05232372
55MP0000534_abnormal_ureter_morphology1.04653560
56MP0001216_abnormal_epidermal_layer1.03521326
57MP0009053_abnormal_anal_canal1.02059144
58MP0010771_integument_phenotype0.98532825
59MP0005330_cardiomyopathy0.98245656
60MP0001661_extended_life_span0.95726377
61MP0001348_abnormal_lacrimal_gland0.95099562
62MP0000751_myopathy0.94692926
63MP0000639_abnormal_adrenal_gland0.92628271
64MP0000609_abnormal_liver_physiology0.89922688
65MP0005377_hearing/vestibular/ear_phenot0.89826575
66MP0003878_abnormal_ear_physiology0.89826575
67MP0003115_abnormal_respiratory_system0.89397688
68MP0004858_abnormal_nervous_system0.88552176
69MP0005410_abnormal_fertilization0.87982291
70MP0001756_abnormal_urination0.87322643
71MP0005584_abnormal_enzyme/coenzyme_acti0.87029227
72MP0000537_abnormal_urethra_morphology0.86104220
73MP0005670_abnormal_white_adipose0.85261092
74MP0009643_abnormal_urine_homeostasis0.81969356
75MP0010030_abnormal_orbit_morphology0.81460169
76MP0000858_altered_metastatic_potential0.80982388
77MP0003091_abnormal_cell_migration0.80163050
78MP0010678_abnormal_skin_adnexa0.80030337
79MP0002098_abnormal_vibrissa_morphology0.79242942
80MP0000747_muscle_weakness0.79118518
81MP0003252_abnormal_bile_duct0.78612485
82MP0002269_muscular_atrophy0.77074044
83MP0005171_absent_coat_pigmentation0.75670356
84MP0002118_abnormal_lipid_homeostasis0.75304882
85MP0003172_abnormal_lysosome_physiology0.75156528
86MP0003385_abnormal_body_wall0.74661904
87MP0005197_abnormal_uvea_morphology0.74112420
88MP0002896_abnormal_bone_mineralization0.73911724
89MP0009931_abnormal_skin_appearance0.71519021
90MP0006138_congestive_heart_failure0.71111364
91MP0002086_abnormal_extraembryonic_tissu0.69979096
92MP0003183_abnormal_peptide_metabolism0.69486255
93MP0002132_abnormal_respiratory_system0.66687994
94MP0004782_abnormal_surfactant_physiolog0.66094171
95MP0005503_abnormal_tendon_morphology0.62349470
96MP0010630_abnormal_cardiac_muscle0.60876742
97MP0003941_abnormal_skin_development0.60122246
98MP0005165_increased_susceptibility_to0.59820498
99MP0002909_abnormal_adrenal_gland0.59504852
100MP0002933_joint_inflammation0.59270592

Predicted human phenotypes

RankGene SetZ-score
1Abnormal gallbladder physiology (HP:0012438)5.45196671
2Cholecystitis (HP:0001082)5.45196671
3Deep venous thrombosis (HP:0002625)4.83430767
4Premature rupture of membranes (HP:0001788)4.05156674
5Abnormality of glycolysis (HP:0004366)3.86931021
6Protrusio acetabuli (HP:0003179)3.72428365
7Vertebral compression fractures (HP:0002953)3.54496651
8Axonal loss (HP:0003447)3.36771284
9Nuclear cataract (HP:0100018)3.23126813
10Abnormality of the common coagulation pathway (HP:0010990)3.20687711
11Hemorrhage of the eye (HP:0011885)3.17919921
12Prolonged partial thromboplastin time (HP:0003645)3.11925494
13Small epiphyses (HP:0010585)3.10047782
14Gout (HP:0001997)3.09417680
15Hypercholesterolemia (HP:0003124)3.08891361
16Complement deficiency (HP:0004431)2.94260306
17Hypoplasia of the capital femoral epiphysis (HP:0003090)2.90126460
18Pterygium (HP:0001059)2.89760809
19Abnormality of carpal bone ossification (HP:0006257)2.81969114
20Focal segmental glomerulosclerosis (HP:0000097)2.81479909
21Distal upper limb amyotrophy (HP:0007149)2.72768878
22Upper limb amyotrophy (HP:0009129)2.72768878
23Increased serum pyruvate (HP:0003542)2.70867103
24Abnormality of complement system (HP:0005339)2.70458950
25Abnormality of aromatic amino acid family metabolism (HP:0004338)2.68813494
26Glomerulosclerosis (HP:0000096)2.66076978
27Cerebral aneurysm (HP:0004944)2.65778388
28Joint hemorrhage (HP:0005261)2.64080574
29Vascular calcification (HP:0004934)2.63682541
30Xanthomatosis (HP:0000991)2.63433557
31J-shaped sella turcica (HP:0002680)2.63410987
32Right ventricular cardiomyopathy (HP:0011663)2.56486015
33Abnormality of glutamine family amino acid metabolism (HP:0010902)2.55429104
34Hypobetalipoproteinemia (HP:0003563)2.51941733
35Abnormality of the intrinsic pathway (HP:0010989)2.48535687
36Cholelithiasis (HP:0001081)2.46255705
37Glucose intolerance (HP:0000833)2.42482797
38Cardiovascular calcification (HP:0011915)2.42468730
39Flat acetabular roof (HP:0003180)2.41757097
40Abnormality of the Achilles tendon (HP:0005109)2.41602087
41Reticulocytosis (HP:0001923)2.35913812
42Alopecia of scalp (HP:0002293)2.35345242
43Neonatal death (HP:0003811)2.34327003
44Mitral stenosis (HP:0001718)2.33912436
45Hand muscle atrophy (HP:0009130)2.31286457
46Broad palm (HP:0001169)2.27853449
47Asymmetry of the thorax (HP:0001555)2.27425616
48Hypolipoproteinemia (HP:0010981)2.24171187
49Wormian bones (HP:0002645)2.22672680
50Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.20865010
51Absent epiphyses (HP:0010577)2.20865010
52Abnormal tarsal ossification (HP:0008369)2.20549847
53Glomerulonephritis (HP:0000099)2.19909042
54Abnormal ossification of hand bones (HP:0005921)2.17500675
55Segmental peripheral demyelination/remyelination (HP:0003481)2.16345645
56Abnormality of the acetabulum (HP:0003170)2.12652401
57Abnormal gallbladder morphology (HP:0012437)2.11795631
58Cervical subluxation (HP:0003308)2.07897226
59Abnormality of the nasal septum (HP:0000419)2.07790380
60Abnormality of nail color (HP:0100643)2.07758147
61Hydroxyprolinuria (HP:0003080)2.06355001
62Abnormality of proline metabolism (HP:0010907)2.06355001
63Zonular cataract (HP:0010920)2.03118923
64Hypoalphalipoproteinemia (HP:0003233)2.01536161
65Abnormality of dentin (HP:0010299)1.99769509
66Achilles tendon contracture (HP:0001771)1.99325396
67Abnormal hand bone ossification (HP:0010660)1.97483209
68Back pain (HP:0003418)1.96870495
69Elbow flexion contracture (HP:0002987)1.96860706
70Popliteal pterygium (HP:0009756)1.96026934
71Abnormal delivery (HP:0001787)1.94001289
72Trismus (HP:0000211)1.92289417
73Arterial tortuosity (HP:0005116)1.90226719
74Hepatocellular carcinoma (HP:0001402)1.87237314
75Shallow orbits (HP:0000586)1.86060185
76Renal duplication (HP:0000075)1.85451286
77Broad alveolar ridges (HP:0000187)1.84580737
78Biconcave vertebral bodies (HP:0004586)1.83551169
79Advanced eruption of teeth (HP:0006288)1.80047935
80Bifid uvula (HP:0000193)1.77172358
81Abnormality of monocarboxylic acid metabolism (HP:0010996)1.76772404
82Menorrhagia (HP:0000132)1.72461563
83Blue sclerae (HP:0000592)1.72203498
84Ileus (HP:0002595)1.71925510
85Abnormality of the distal phalanges of the toes (HP:0010182)1.71886368
86Overlapping toe (HP:0001845)1.71496840
87Broad face (HP:0000283)1.71156621
88Urinary glycosaminoglycan excretion (HP:0003541)1.69715639
89Mucopolysacchariduria (HP:0008155)1.69715639
90Premature skin wrinkling (HP:0100678)1.66957390
91Coxa vara (HP:0002812)1.64174119
92Purpura (HP:0000979)1.63899534
93Abnormality of reticulocytes (HP:0004312)1.62889676
94Conjugated hyperbilirubinemia (HP:0002908)1.62689620
95Plantar hyperkeratosis (HP:0007556)1.62532324
96Rhabdomyolysis (HP:0003201)1.61555121
97Myopathic facies (HP:0002058)1.60465169
98Ulnar bowing (HP:0003031)1.59449162
99Atrophic scars (HP:0001075)1.58559649
100Palmoplantar hyperkeratosis (HP:0000972)1.58338181

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST1R4.47543085
2EPHA24.10967164
3FGFR43.44824131
4WNK42.67221976
5MET2.56783662
6ARAF2.54442559
7ICK2.53874837
8ERN12.42182037
9PKN22.37272585
10IRAK32.26082435
11MAP3K22.12795570
12LMTK22.08632069
13NME21.99992811
14PTK21.87597752
15SIK11.83436906
16PDGFRA1.76729779
17EIF2AK11.75449613
18MAP3K31.74215692
19MAP3K91.72442113
20TRIB31.71639020
21FGFR31.71614317
22FLT31.68591402
23NEK11.63446717
24EEF2K1.62930660
25RIPK11.57621216
26KSR21.54817885
27PAK41.54278478
28LATS21.52419100
29TESK11.49617788
30NTRK11.37543370
31FGFR11.35929814
32BCKDK1.33143789
33CDK121.25220619
34SMG11.24986384
35CDK81.23540244
36MAPK111.12744578
37MAPKAPK31.10592798
38SIK21.10119956
39MAP2K61.08528459
40RET1.02272915
41RPS6KB21.01424232
42BRSK10.97469374
43PDK20.91752622
44BRAF0.91023060
45WNK10.88910730
46BMX0.88000887
47PDPK10.84801731
48PIM20.82882776
49MOS0.80675128
50NEK20.78866093
51WEE10.78612064
52TYRO30.77848552
53MAP3K130.76968054
54RAF10.76190355
55PBK0.72711795
56MAP3K60.71611401
57SCYL20.68334426
58STK390.67822405
59MTOR0.67320638
60EPHB10.67214641
61CDK70.66716847
62MAPKAPK50.66586663
63STK380.64094289
64PTK60.63474262
65TESK20.62777684
66DDR20.61281133
67LATS10.60065658
68CDK60.59807602
69ERBB40.55671984
70MAP3K10.52837015
71CDK150.51693135
72NME10.51442272
73SGK4940.49008852
74SGK2230.49008852
75CDK180.48532444
76LIMK10.47022441
77CDK11A0.46946864
78MAP3K80.46736542
79NEK60.46642220
80FER0.46415005
81FGFR20.45868044
82AKT20.44018555
83EPHB20.43468020
84DAPK10.42177539
85BUB10.41210224
86ABL20.39117055
87CDK140.38360998
88STK240.37074759
89PAK20.36690131
90NTRK30.33982287
91PDK10.33621950
92KSR10.33531838
93ILK0.33230146
94PRKG20.31232351
95PAK10.31187921
96PRKD30.30067237
97SRC0.28712927
98DYRK1B0.28658146
99MAPKAPK20.28346448
100CDK90.28176909

Predicted pathways (KEGG)

RankGene SetZ-score
1Butirosin and neomycin biosynthesis_Homo sapiens_hsa005244.30680173
2Fructose and mannose metabolism_Homo sapiens_hsa000513.85107518
3Biosynthesis of amino acids_Homo sapiens_hsa012302.97894206
4Galactose metabolism_Homo sapiens_hsa000522.77171041
5Complement and coagulation cascades_Homo sapiens_hsa046102.72088996
6Cyanoamino acid metabolism_Homo sapiens_hsa004602.65709234
7Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.63110763
8Arginine biosynthesis_Homo sapiens_hsa002202.46127492
9Pentose phosphate pathway_Homo sapiens_hsa000302.42555940
102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.22048635
11Starch and sucrose metabolism_Homo sapiens_hsa005002.15723384
12Glycosaminoglycan degradation_Homo sapiens_hsa005312.15532846
13Carbon metabolism_Homo sapiens_hsa012002.12073993
14Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.03339882
15Other glycan degradation_Homo sapiens_hsa005111.95363705
16Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.86391804
17Central carbon metabolism in cancer_Homo sapiens_hsa052301.85002614
18Phenylalanine metabolism_Homo sapiens_hsa003601.80961301
19Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.74528717
20Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.69760852
21Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.62963306
22Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.60580576
23Pentose and glucuronate interconversions_Homo sapiens_hsa000401.60081836
24N-Glycan biosynthesis_Homo sapiens_hsa005101.51560337
25Arginine and proline metabolism_Homo sapiens_hsa003301.47496092
26Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.46484457
27Fat digestion and absorption_Homo sapiens_hsa049751.40721046
28ECM-receptor interaction_Homo sapiens_hsa045121.40550156
29HIF-1 signaling pathway_Homo sapiens_hsa040661.36624181
30Prion diseases_Homo sapiens_hsa050201.32251343
31Sulfur relay system_Homo sapiens_hsa041221.30538382
32Vitamin B6 metabolism_Homo sapiens_hsa007501.26423395
33Vitamin digestion and absorption_Homo sapiens_hsa049771.25540195
34Bile secretion_Homo sapiens_hsa049761.22784784
35Drug metabolism - other enzymes_Homo sapiens_hsa009831.19170483
36Tyrosine metabolism_Homo sapiens_hsa003501.15138506
37Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.14809556
38Fatty acid biosynthesis_Homo sapiens_hsa000611.04142746
39Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.99277747
40Vibrio cholerae infection_Homo sapiens_hsa051100.98335142
41Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.92103518
42Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.92091030
43Steroid biosynthesis_Homo sapiens_hsa001000.91800280
44Pyruvate metabolism_Homo sapiens_hsa006200.90399043
45Bladder cancer_Homo sapiens_hsa052190.86562306
46Thyroid hormone synthesis_Homo sapiens_hsa049180.84269319
47Fatty acid metabolism_Homo sapiens_hsa012120.78834359
48Glutathione metabolism_Homo sapiens_hsa004800.76895536
49Fatty acid elongation_Homo sapiens_hsa000620.74218540
50Lysine degradation_Homo sapiens_hsa003100.73559780
51PPAR signaling pathway_Homo sapiens_hsa033200.73259352
52Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.72021493
53Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.71217868
54Thyroid cancer_Homo sapiens_hsa052160.70312586
55Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.70305049
56Focal adhesion_Homo sapiens_hsa045100.68200604
57Glucagon signaling pathway_Homo sapiens_hsa049220.67651967
58Sphingolipid metabolism_Homo sapiens_hsa006000.65958056
59Steroid hormone biosynthesis_Homo sapiens_hsa001400.65339761
60Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.63597629
61Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.61749140
62Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.61097421
63Renal cell carcinoma_Homo sapiens_hsa052110.60230324
64Renin-angiotensin system_Homo sapiens_hsa046140.60204777
65Adherens junction_Homo sapiens_hsa045200.60095528
66Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.59083216
67Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.57582630
68Proteoglycans in cancer_Homo sapiens_hsa052050.55792373
69Maturity onset diabetes of the young_Homo sapiens_hsa049500.55036880
70Insulin signaling pathway_Homo sapiens_hsa049100.54099466
71Chronic myeloid leukemia_Homo sapiens_hsa052200.52740406
72Folate biosynthesis_Homo sapiens_hsa007900.51792707
73Histidine metabolism_Homo sapiens_hsa003400.51628523
74Cysteine and methionine metabolism_Homo sapiens_hsa002700.50248541
75Small cell lung cancer_Homo sapiens_hsa052220.47896757
76Fatty acid degradation_Homo sapiens_hsa000710.47657397
77Pancreatic cancer_Homo sapiens_hsa052120.45906616
78Non-small cell lung cancer_Homo sapiens_hsa052230.44888340
79ErbB signaling pathway_Homo sapiens_hsa040120.44779917
80Chemical carcinogenesis_Homo sapiens_hsa052040.41103682
81VEGF signaling pathway_Homo sapiens_hsa043700.40266341
82AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.39097735
83Protein digestion and absorption_Homo sapiens_hsa049740.38224261
84Circadian rhythm_Homo sapiens_hsa047100.37650729
85Metabolic pathways_Homo sapiens_hsa011000.34101811
86ABC transporters_Homo sapiens_hsa020100.33592450
87Amoebiasis_Homo sapiens_hsa051460.31621726
88Mineral absorption_Homo sapiens_hsa049780.31021502
89Thyroid hormone signaling pathway_Homo sapiens_hsa049190.30457827
90AMPK signaling pathway_Homo sapiens_hsa041520.29964095
91Retinol metabolism_Homo sapiens_hsa008300.29807592
92PI3K-Akt signaling pathway_Homo sapiens_hsa041510.29581969
93Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.29579038
94Insulin resistance_Homo sapiens_hsa049310.28034568
95Glioma_Homo sapiens_hsa052140.24485182
96mTOR signaling pathway_Homo sapiens_hsa041500.22612649
97MicroRNAs in cancer_Homo sapiens_hsa052060.15429524
98Carbohydrate digestion and absorption_Homo sapiens_hsa049730.15059987
99Pertussis_Homo sapiens_hsa051330.14622858
100Lysosome_Homo sapiens_hsa041420.14019838

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