CA12

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. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1hemidesmosome assembly (GO:0031581)6.29814408
2glomerular basement membrane development (GO:0032836)6.23096580
3desmosome organization (GO:0002934)5.53741750
4mesenchymal-epithelial cell signaling (GO:0060638)5.40998521
5regulation of branching involved in salivary gland morphogenesis (GO:0060693)5.13932236
6lateral sprouting from an epithelium (GO:0060601)4.85497956
7peptidyl-proline hydroxylation (GO:0019511)4.75412567
8keratinocyte proliferation (GO:0043616)4.19043539
9protein hydroxylation (GO:0018126)3.98412589
10regulation of water loss via skin (GO:0033561)3.94541159
11limb bud formation (GO:0060174)3.94343148
12establishment of skin barrier (GO:0061436)3.90258168
134-hydroxyproline metabolic process (GO:0019471)3.89492940
14aminoglycoside antibiotic metabolic process (GO:0030647)3.88095011
15negative regulation of keratinocyte proliferation (GO:0010839)3.81338551
16regulation of keratinocyte proliferation (GO:0010837)3.74817161
17regulation of apoptotic process involved in morphogenesis (GO:1902337)3.74801645
18renal filtration (GO:0097205)3.68207408
19camera-type eye morphogenesis (GO:0048593)3.62196783
20embryonic camera-type eye development (GO:0031076)3.60148453
21polyketide metabolic process (GO:0030638)3.58326486
22doxorubicin metabolic process (GO:0044598)3.58326486
23daunorubicin metabolic process (GO:0044597)3.58326486
24radial glial cell differentiation (GO:0060019)3.56782464
25endothelial cell chemotaxis (GO:0035767)3.52978545
26glomerular filtration (GO:0003094)3.44361227
27otic vesicle formation (GO:0030916)3.34235304
28mammary gland alveolus development (GO:0060749)3.29312886
29branch elongation of an epithelium (GO:0060602)3.28554769
30dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.22460175
31multicellular organismal water homeostasis (GO:0050891)3.14512796
32bundle of His cell to Purkinje myocyte communication (GO:0086069)3.12746812
33positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.10646670
34regulation of endothelial cell chemotaxis (GO:2001026)3.08813839
35surfactant homeostasis (GO:0043129)3.08649171
36COPI coating of Golgi vesicle (GO:0048205)3.04108532
37Golgi transport vesicle coating (GO:0048200)3.04108532
38metanephric nephron tubule development (GO:0072234)3.03007738
39metanephric tubule development (GO:0072170)3.03007738
40maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.01786552
41negative regulation of protein localization to cell surface (GO:2000009)2.98248683
42regulation of protein localization to cell surface (GO:2000008)2.97263499
43keratinization (GO:0031424)2.97165085
44establishment of planar polarity (GO:0001736)2.95908001
45establishment of tissue polarity (GO:0007164)2.95908001
46metanephric nephron epithelium development (GO:0072243)2.93123257
47type B pancreatic cell proliferation (GO:0044342)2.90106911
48positive regulation of cell junction assembly (GO:1901890)2.87002640
49positive regulation of focal adhesion assembly (GO:0051894)2.87002640
50protein retention in ER lumen (GO:0006621)2.86681553
51skeletal muscle adaptation (GO:0043501)2.85668297
52ER overload response (GO:0006983)2.84063640
53positive regulation of adherens junction organization (GO:1903393)2.82175106
54ear development (GO:0043583)2.81781841
55nephron tubule development (GO:0072080)2.78221851
56vascular endothelial growth factor signaling pathway (GO:0038084)2.73526242
57branching involved in salivary gland morphogenesis (GO:0060445)2.72389488
58lung epithelium development (GO:0060428)2.70885963
59regulation of axon extension involved in axon guidance (GO:0048841)2.69049775
60positive regulation of fatty acid beta-oxidation (GO:0032000)2.68638801
61metanephric epithelium development (GO:0072207)2.64237229
62cell-substrate junction assembly (GO:0007044)2.63789079
63regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.60235003
64nephron tubule formation (GO:0072079)2.59830649
65negative regulation of chondrocyte differentiation (GO:0032331)2.59658194
66mesonephros development (GO:0001823)2.59555144
67negative regulation of axon extension involved in axon guidance (GO:0048843)2.59251152
68axis elongation (GO:0003401)2.58576235
69regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.58307665
70chemical homeostasis within a tissue (GO:0048875)2.58196299
71endodermal cell differentiation (GO:0035987)2.57680160
72epidermis development (GO:0008544)2.57512369
73collagen catabolic process (GO:0030574)2.57393191
74branching involved in mammary gland duct morphogenesis (GO:0060444)2.56876060
75cell adhesion mediated by integrin (GO:0033627)2.55339020
76extracellular matrix disassembly (GO:0022617)2.55292299
77water homeostasis (GO:0030104)2.54422348
78renal tubule development (GO:0061326)2.52745717
79endocardial cushion morphogenesis (GO:0003203)2.51761320
80Notch signaling involved in heart development (GO:0061314)2.51093914
81multicellular organismal macromolecule metabolic process (GO:0044259)2.50836413
82lung secretory cell differentiation (GO:0061140)2.50665558
83skin morphogenesis (GO:0043589)2.50072533
84* bicarbonate transport (GO:0015701)2.49390361
85collagen metabolic process (GO:0032963)2.49230895
86neural crest cell development (GO:0014032)2.48140462
87multicellular organismal catabolic process (GO:0044243)2.47019131
88regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.46693240
89non-canonical Wnt signaling pathway (GO:0035567)2.45899582
90multicellular organismal metabolic process (GO:0044236)2.41975517
91epithelial cell-cell adhesion (GO:0090136)2.41933741
92renal absorption (GO:0070293)2.40759700
93cardiac right ventricle morphogenesis (GO:0003215)2.40033002
94primary alcohol catabolic process (GO:0034310)2.39403248
95negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)2.39194681
96epithelial cell proliferation (GO:0050673)2.36744498
97regulation of fatty acid beta-oxidation (GO:0031998)2.36489043
98L-serine transport (GO:0015825)2.36306779
99regulation of cholesterol homeostasis (GO:2000188)2.35141244
100auditory receptor cell differentiation (GO:0042491)2.34500949

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human8.95898486
2* TRIM28_21343339_ChIP-Seq_HEK293_Human4.42667168
3TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.34837099
4HIF1A_21447827_ChIP-Seq_MCF-7_Human4.06738046
5* ESR1_21235772_ChIP-Seq_MCF-7_Human3.93246965
6* ESR2_21235772_ChIP-Seq_MCF-7_Human3.89346977
7* ESR1_20079471_ChIP-ChIP_T-47D_Human3.43737299
8* ZNF217_24962896_ChIP-Seq_MCF-7_Human2.85570603
9SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.83038461
10PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.07781150
11TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.05462746
12CLOCK_20551151_ChIP-Seq_293T_Human2.02265481
13AHR_22903824_ChIP-Seq_MCF-7_Human2.00246498
14SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.99923141
15SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.99923141
16CJUN_26792858_Chip-Seq_BT549_Human1.98421463
17CDX2_20551321_ChIP-Seq_CACO-2_Human1.97054221
18PPAR_26484153_Chip-Seq_NCI-H1993_Human1.88842938
19* SOX2_20726797_ChIP-Seq_SW620_Human1.82696086
20TP53_18474530_ChIP-ChIP_U2OS_Human1.75830326
21* ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.68281922
22SOX9_24532713_ChIP-Seq_HFSC_Mouse1.66437454
23RARG_19884340_ChIP-ChIP_MEFs_Mouse1.64215025
24* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.62072803
25FOXO3_23340844_ChIP-Seq_DLD1_Human1.56179508
26KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.55385974
27ESR1_15608294_ChIP-ChIP_MCF-7_Human1.53926934
28ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.53678859
29TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.53526428
30ARNT_22903824_ChIP-Seq_MCF-7_Human1.51456489
31PIAS1_25552417_ChIP-Seq_VCAP_Human1.51330506
32ZNF263_19887448_ChIP-Seq_K562_Human1.49971575
33STAT6_21828071_ChIP-Seq_BEAS2B_Human1.49144527
34RUNX1_27514584_Chip-Seq_MCF-7_Human1.47708403
35NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.44376332
36RACK7_27058665_Chip-Seq_MCF-7_Human1.40968028
37PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.38854628
38* GATA3_24758297_ChIP-Seq_MCF-7_Human1.33782984
39SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.31874934
40KLF5_25053715_ChIP-Seq_YYC3_Human1.30970029
41NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.26895408
42SOX2_27498859_Chip-Seq_STOMACH_Mouse1.26604958
43CDX2_19796622_ChIP-Seq_MESCs_Mouse1.25920313
44FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.25299476
45SMAD_19615063_ChIP-ChIP_OVARY_Human1.23974609
46UBF1/2_26484160_Chip-Seq_HMECs_Human1.23662913
47FOXM1_26456572_ChIP-Seq_MCF-7_Human1.21270380
48TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.20472441
49CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.19738509
50ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.19487131
51ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.17337501
52GATA4_25053715_ChIP-Seq_YYC3_Human1.15783356
53NRF2_20460467_ChIP-Seq_MEFs_Mouse1.14824130
54NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.14824130
55RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.14774822
56ATF3_27146783_Chip-Seq_COLON_Human1.13619408
57WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.12633786
58* TP63_23658742_ChIP-Seq_EP156T_Human1.10692479
59ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.10536878
60EP300_21415370_ChIP-Seq_HL-1_Mouse1.10504748
61GATA6_25053715_ChIP-Seq_YYC3_Human1.09691045
62KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.09619950
63CTNNB1_20460455_ChIP-Seq_HCT116_Human1.08000019
64TCF4_18268006_ChIP-ChIP_LS174T_Human1.06609139
65* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.05071213
66P300_27058665_Chip-Seq_ZR-75-30cells_Human1.02996720
67NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.01714900
68RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.01232362
69CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.00667377
70EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.00040615
71SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.99950810
72LXR_22158963_ChIP-Seq_LIVER_Mouse0.99781607
73CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98472976
74RXR_22158963_ChIP-Seq_LIVER_Mouse0.97908391
75FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.96539678
76RXR_22108803_ChIP-Seq_LS180_Human0.95855984
77* BRD4_25478319_ChIP-Seq_HGPS_Human0.95638255
78SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.94651799
79EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.94586865
80* TP53_16413492_ChIP-PET_HCT116_Human0.93027058
81PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.92599282
82ERG_21242973_ChIP-ChIP_JURKAT_Human0.92453533
83POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.92440330
84ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.92428463
85MTF2_20144788_ChIP-Seq_MESCs_Mouse0.91186112
86RNF2_18974828_ChIP-Seq_MESCs_Mouse0.90065034
87EZH2_18974828_ChIP-Seq_MESCs_Mouse0.90065034
88FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.90026672
89TBX20_22328084_ChIP-Seq_HEART_Mouse0.89188018
90TBX20_22080862_ChIP-Seq_HEART_Mouse0.89188018
91TP53_20018659_ChIP-ChIP_R1E_Mouse0.87726295
92SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.87580102
93UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.87228920
94FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.86053151
95* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.85606838
96WT1_25993318_ChIP-Seq_PODOCYTE_Human0.83948362
97SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.83703831
98TP53_22127205_ChIP-Seq_IMR90_Human0.82443434
99NR3C1_21868756_ChIP-Seq_MCF10A_Human0.81602773
100GATA2_21666600_ChIP-Seq_HMVEC_Human0.80967184

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000579_abnormal_nail_morphology4.36954775
2MP0005257_abnormal_intraocular_pressure4.05733300
3MP0004272_abnormal_basement_membrane3.87309549
4MP0010234_abnormal_vibrissa_follicle3.49441625
5MP0003878_abnormal_ear_physiology3.44059323
6MP0005377_hearing/vestibular/ear_phenot3.44059323
7MP0005275_abnormal_skin_tensile2.98254691
8MP0002796_impaired_skin_barrier2.88213938
9MP0008438_abnormal_cutaneous_collagen2.76832156
10MP0000762_abnormal_tongue_morphology2.66634069
11MP0005248_abnormal_Harderian_gland2.59500503
12MP0010678_abnormal_skin_adnexa2.46435201
13MP0003941_abnormal_skin_development2.40181759
14MP0000467_abnormal_esophagus_morphology2.32312469
15MP0004043_abnormal_pH_regulation2.27024301
16MP0003705_abnormal_hypodermis_morpholog2.18165192
17MP0004885_abnormal_endolymph2.07236024
18MP0005503_abnormal_tendon_morphology2.07067414
19MP0010030_abnormal_orbit_morphology1.99718596
20MP0002098_abnormal_vibrissa_morphology1.99151405
21MP0000383_abnormal_hair_follicle1.97318003
22MP0004264_abnormal_extraembryonic_tissu1.96147437
23MP0000566_synostosis1.95424159
24MP0002060_abnormal_skin_morphology1.93578022
25MP0003195_calcinosis1.90595308
26MP0005501_abnormal_skin_physiology1.79344956
27MP0009384_cardiac_valve_regurgitation1.73826557
28MP0001216_abnormal_epidermal_layer1.67167056
29MP0001756_abnormal_urination1.59370851
30MP0000537_abnormal_urethra_morphology1.52611080
31MP0003453_abnormal_keratinocyte_physiol1.49806008
32MP0009780_abnormal_chondrocyte_physiolo1.49522256
33MP0009053_abnormal_anal_canal1.46390583
34MP0002896_abnormal_bone_mineralization1.44702736
35MP0003566_abnormal_cell_adhesion1.42228972
36MP0005023_abnormal_wound_healing1.42110536
37MP0001849_ear_inflammation1.41593543
38MP0003011_delayed_dark_adaptation1.39617180
39MP0000427_abnormal_hair_cycle1.38142119
40MP0002102_abnormal_ear_morphology1.35200625
41MP0010771_integument_phenotype1.34191972
42MP0002282_abnormal_trachea_morphology1.31022890
43MP0000377_abnormal_hair_follicle1.30335378
44MP0003136_yellow_coat_color1.30127518
45MP0000627_abnormal_mammary_gland1.29175091
46MP0003091_abnormal_cell_migration1.28622368
47MP0003755_abnormal_palate_morphology1.25651904
48MP0002139_abnormal_hepatobiliary_system1.24278417
49MP0005197_abnormal_uvea_morphology1.19951714
50MP0003950_abnormal_plasma_membrane1.16838950
51MP0000534_abnormal_ureter_morphology1.14114056
52MP0001879_abnormal_lymphatic_vessel1.14027744
53MP0000538_abnormal_urinary_bladder1.10746851
54MP0001958_emphysema1.08670591
55MP0005409_darkened_coat_color1.07778913
56MP0005508_abnormal_skeleton_morphology1.06142997
57MP0005193_abnormal_anterior_eye1.02148803
58MP0001765_abnormal_ion_homeostasis1.01885747
59MP0009250_abnormal_appendicular_skeleto1.00287967
60MP0001346_abnormal_lacrimal_gland0.98245226
61MP0004233_abnormal_muscle_weight0.97563874
62MP0003191_abnormal_cellular_cholesterol0.96521969
63MP0003936_abnormal_reproductive_system0.94711774
64MP0004782_abnormal_surfactant_physiolog0.93752595
65MP0000613_abnormal_salivary_gland0.90423915
66MP0003942_abnormal_urinary_system0.88978509
67MP0000767_abnormal_smooth_muscle0.87342811
68MP0009643_abnormal_urine_homeostasis0.85639212
69MP0002909_abnormal_adrenal_gland0.85521555
70MP0000647_abnormal_sebaceous_gland0.85240277
71MP0002697_abnormal_eye_size0.84553502
72MP0000678_abnormal_parathyroid_gland0.83716947
73MP0005360_urolithiasis0.82247355
74MP0000026_abnormal_inner_ear0.80099797
75MP0004019_abnormal_vitamin_homeostasis0.78381612
76MP0002295_abnormal_pulmonary_circulatio0.77016836
77MP0009931_abnormal_skin_appearance0.76946511
78MP0002136_abnormal_kidney_physiology0.76164375
79MP0001299_abnormal_eye_distance/0.75990154
80MP0005595_abnormal_vascular_smooth0.75929836
81MP0003279_aneurysm0.75235389
82MP0002254_reproductive_system_inflammat0.74661507
83MP0010368_abnormal_lymphatic_system0.74437011
84MP0000163_abnormal_cartilage_morphology0.72614507
85MP0002168_other_aberrant_phenotype0.70985612
86MP0004858_abnormal_nervous_system0.70838657
87MP0001881_abnormal_mammary_gland0.68334364
88MP0002092_abnormal_eye_morphology0.67758126
89MP0003252_abnormal_bile_duct0.67735768
90MP0000462_abnormal_digestive_system0.67590073
91MP0001664_abnormal_digestion0.67288982
92MP0000367_abnormal_coat/_hair0.66150747
93MP0002277_abnormal_respiratory_mucosa0.65754454
94MP0005164_abnormal_response_to0.65230877
95MP0005076_abnormal_cell_differentiation0.63783594
96MP0003183_abnormal_peptide_metabolism0.63630621
97MP0004381_abnormal_hair_follicle0.63621856
98MP0001270_distended_abdomen0.63394132
99MP0001340_abnormal_eyelid_morphology0.62745247
100MP0003937_abnormal_limbs/digits/tail_de0.61462426

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of nail color (HP:0100643)4.90519698
2Hyperactive renin-angiotensin system (HP:0000841)4.84363655
3Milia (HP:0001056)4.34784027
4Atrophic scars (HP:0001075)4.16403463
5Metabolic alkalosis (HP:0200114)3.86147945
6Aplasia involving bones of the upper limbs (HP:0009823)3.74435282
7Aplasia of the phalanges of the hand (HP:0009802)3.74435282
8Aplasia involving bones of the extremities (HP:0009825)3.74435282
9Fragile nails (HP:0001808)3.72505662
10Onycholysis (HP:0001806)3.52127774
11Pterygium (HP:0001059)3.51700972
12Corneal erosion (HP:0200020)3.50539322
13Plantar hyperkeratosis (HP:0007556)3.48924800
14Arterial tortuosity (HP:0005116)3.43659330
15Right ventricular cardiomyopathy (HP:0011663)3.27919335
16Vascular tortuosity (HP:0004948)3.24257736
17Alopecia of scalp (HP:0002293)3.22950859
18Partial duplication of thumb phalanx (HP:0009944)3.14176638
19Premature rupture of membranes (HP:0001788)3.14105429
20Partial duplication of the phalanx of hand (HP:0009999)3.12756196
21Concave nail (HP:0001598)2.95012971
22Hyperaldosteronism (HP:0000859)2.90699122
23Recurrent corneal erosions (HP:0000495)2.90518802
24Abnormality of chloride homeostasis (HP:0011422)2.83274541
25Thick nail (HP:0001805)2.83133307
26Follicular hyperkeratosis (HP:0007502)2.82977850
27Glomerulonephritis (HP:0000099)2.81274454
28Ridged nail (HP:0001807)2.77349981
29Neonatal short-limb short stature (HP:0008921)2.74800960
30Palmoplantar hyperkeratosis (HP:0000972)2.71283775
31Protrusio acetabuli (HP:0003179)2.70057422
32Renal tubular acidosis (HP:0001947)2.62650905
33Nephritis (HP:0000123)2.60399404
34Hypokalemic alkalosis (HP:0001949)2.60128139
35Increased circulating renin level (HP:0000848)2.60072910
36Abnormality of incisor morphology (HP:0011063)2.55644980
37Palmar hyperkeratosis (HP:0010765)2.55524843
38Corneal dystrophy (HP:0001131)2.55054104
39Hypoplasia of dental enamel (HP:0006297)2.52045783
40Aplasia/Hypoplasia of the vertebrae (HP:0008515)2.49116807
41Vertebral hypoplasia (HP:0008417)2.49116807
42Renal salt wasting (HP:0000127)2.48828876
43Abnormality of renin-angiotensin system (HP:0000847)2.44877589
44Fragile skin (HP:0001030)2.34334476
45Pili torti (HP:0003777)2.33486338
46Hypotrichosis (HP:0001006)2.31918397
47Coronal craniosynostosis (HP:0004440)2.27553024
48Congenital glaucoma (HP:0001087)2.27151485
49Nail dystrophy (HP:0008404)2.24359340
50Conical tooth (HP:0000698)2.20451744
51Cervical subluxation (HP:0003308)2.19544992
52Abnormality of the distal phalanx of the thumb (HP:0009617)2.13184497
53Aortic dissection (HP:0002647)2.13176907
54Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)2.11511646
55Mitral stenosis (HP:0001718)2.11047934
56Tibial bowing (HP:0002982)2.06245522
57Abnormality of molar (HP:0011077)2.04715062
58Abnormality of molar morphology (HP:0011070)2.04715062
59Microglossia (HP:0000171)2.02195584
60Abnormality of permanent molar morphology (HP:0011071)2.01810060
61Abnormality of the dental root (HP:0006486)2.01810060
62Taurodontia (HP:0000679)2.01810060
63Hypodontia (HP:0000668)2.00562926
64Broad metatarsal (HP:0001783)1.99408411
65Flat acetabular roof (HP:0003180)1.98662931
66Wormian bones (HP:0002645)1.97796432
67Vascular calcification (HP:0004934)1.94070583
68J-shaped sella turcica (HP:0002680)1.93125894
69Cardiovascular calcification (HP:0011915)1.93004685
70Stage 5 chronic kidney disease (HP:0003774)1.92134127
71Short nail (HP:0001799)1.90355938
72Alacrima (HP:0000522)1.88643782
73Congenital ichthyosiform erythroderma (HP:0007431)1.88472507
74Abnormality of the salivary glands (HP:0010286)1.87018990
75Flattened epiphyses (HP:0003071)1.86870062
76Shallow orbits (HP:0000586)1.86850198
77Abnormality of the dental pulp (HP:0006479)1.86278983
78Vertebral compression fractures (HP:0002953)1.86218026
79Natal tooth (HP:0000695)1.85297803
80Hyperextensible skin (HP:0000974)1.82940707
81Broad face (HP:0000283)1.81110096
82Alkalosis (HP:0001948)1.80666126
83Hydroxyprolinuria (HP:0003080)1.79346472
84Abnormality of proline metabolism (HP:0010907)1.79346472
85Soft skin (HP:0000977)1.79143616
86Polar cataract (HP:0010696)1.76521444
87Focal segmental glomerulosclerosis (HP:0000097)1.76511777
88Exostoses (HP:0100777)1.75438535
89Deformed sella turcica (HP:0002681)1.75010130
90Blue sclerae (HP:0000592)1.74010607
91Tubular atrophy (HP:0000092)1.73983739
92Advanced eruption of teeth (HP:0006288)1.73796912
93Abnormal hair laboratory examination (HP:0003328)1.73446276
94Bladder diverticulum (HP:0000015)1.70049774
95Broad hallux (HP:0010055)1.69628444
96* Dehydration (HP:0001944)1.69317618
97Osteoarthritis (HP:0002758)1.69288232
98Abnormality of the distal phalanges of the toes (HP:0010182)1.67766596
99Spinal cord compression (HP:0002176)1.67382557
100Thin bony cortex (HP:0002753)1.67144751

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST1R4.80181343
2EPHA24.06930341
3MET3.10729809
4EPHB23.09340845
5SIK12.67395096
6PKN22.58340340
7NTRK12.37380933
8CASK2.23809872
9ARAF2.20984336
10RIPK12.19186787
11LMTK22.18714341
12PIK3CA2.04196046
13FER2.01773031
14TRIB32.01425720
15MAPKAPK31.97507859
16PTK21.83200084
17ERN11.81530349
18TESK11.80584868
19PDGFRA1.79376792
20MAPK151.77128774
21EPHB11.74924384
22WNK31.73524069
23PNCK1.71410981
24PAK41.50897681
25STK391.48366497
26EPHA31.36111774
27LATS21.35742224
28MAP3K121.33528117
29BCR1.32765849
30ERBB41.32576808
31MAP3K21.23217698
32NEK61.21801067
33WNK41.21398981
34MOS1.19767138
35PIM21.14870983
36MAP3K31.14050024
37DDR21.13564940
38OXSR11.13317573
39TGFBR21.09571966
40MAP3K91.02947414
41EIF2AK11.02427387
42MUSK0.95360437
43RET0.95109684
44LATS10.94576849
45PDGFRB0.92526666
46PRKCI0.89922032
47SCYL20.88167725
48IRAK30.88142665
49FLT30.80307299
50MAPKAPK50.78947944
51FGFR10.77867420
52KSR20.77022180
53TSSK60.76971325
54CAMK2B0.76722255
55MAP2K10.76679317
56MYLK0.76648109
57PAK20.72888975
58PTK60.71552509
59FGFR40.69589145
60ERBB20.67407939
61TAOK10.67385334
62ABL20.67178156
63ROCK20.66673477
64BMX0.65335948
65ROCK10.63929127
66STK38L0.61692304
67MAP2K20.60646985
68MTOR0.60234022
69PRKD20.59700346
70TRPM70.56990197
71MST40.55338435
72STK380.54510763
73CDK80.52225255
74RPS6KA20.51083969
75MAP3K130.50999715
76PRKCE0.50080695
77KSR10.49725711
78RPS6KB20.48950166
79WEE10.48093817
80LIMK10.48057432
81ILK0.46765219
82AKT20.46107247
83EIF2AK30.43844208
84NEK90.43564077
85STK240.43318840
86CAMK1D0.43244877
87MAPK70.43091779
88CAMK1G0.41934027
89MAPKAPK20.41733506
90CAMK2D0.40655918
91CAMK2G0.40597648
92MAP3K60.39959561
93GSK3A0.39725550
94IRAK10.36893909
95GRK60.35674526
96ADRBK10.33571050
97PRKD10.33264734
98BMPR1B0.30296131
99TGFBR10.30173909
100SRC0.26246901

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045123.00682398
2Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.63949192
3* Nitrogen metabolism_Homo sapiens_hsa009102.44956603
4Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.40297739
5Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.22001542
6Cyanoamino acid metabolism_Homo sapiens_hsa004602.07657104
7Fructose and mannose metabolism_Homo sapiens_hsa000511.98076018
8Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.96456335
9Protein digestion and absorption_Homo sapiens_hsa049741.90040874
10Sulfur metabolism_Homo sapiens_hsa009201.89773211
11Focal adhesion_Homo sapiens_hsa045101.68824566
12Galactose metabolism_Homo sapiens_hsa000521.58648681
13Sphingolipid metabolism_Homo sapiens_hsa006001.58319950
14Pentose and glucuronate interconversions_Homo sapiens_hsa000401.51477853
15Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.46640906
16Steroid biosynthesis_Homo sapiens_hsa001001.44289101
17AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.40935453
18Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.40630012
19Amoebiasis_Homo sapiens_hsa051461.39827279
20Bladder cancer_Homo sapiens_hsa052191.35267539
21Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.33258687
22Central carbon metabolism in cancer_Homo sapiens_hsa052301.32976748
23Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.30227286
24Small cell lung cancer_Homo sapiens_hsa052221.28438744
25Melanoma_Homo sapiens_hsa052181.27183511
26Bile secretion_Homo sapiens_hsa049761.23174585
27Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.21924575
28Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.19554870
29Axon guidance_Homo sapiens_hsa043601.18161832
30Steroid hormone biosynthesis_Homo sapiens_hsa001401.17731248
31Renal cell carcinoma_Homo sapiens_hsa052111.16170233
32Adherens junction_Homo sapiens_hsa045201.16154196
33Pancreatic secretion_Homo sapiens_hsa049721.14809066
34Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.10042604
35Mineral absorption_Homo sapiens_hsa049781.07108068
36Starch and sucrose metabolism_Homo sapiens_hsa005001.05973736
37Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.01742354
38Proteoglycans in cancer_Homo sapiens_hsa052050.97808170
39Notch signaling pathway_Homo sapiens_hsa043300.96539108
40PI3K-Akt signaling pathway_Homo sapiens_hsa041510.95186423
41Glutathione metabolism_Homo sapiens_hsa004800.95185692
42Glycosaminoglycan degradation_Homo sapiens_hsa005310.93688442
43Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.92539999
44Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.89966172
45Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.89541576
46Circadian rhythm_Homo sapiens_hsa047100.89306269
47Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.88209515
48Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.87777077
49Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.85664666
50Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.84885861
51ErbB signaling pathway_Homo sapiens_hsa040120.84329384
52Sulfur relay system_Homo sapiens_hsa041220.83351276
53Retinol metabolism_Homo sapiens_hsa008300.83243903
54Hippo signaling pathway_Homo sapiens_hsa043900.82340825
55Pathways in cancer_Homo sapiens_hsa052000.81091653
56Tight junction_Homo sapiens_hsa045300.80714844
57Estrogen signaling pathway_Homo sapiens_hsa049150.80340445
58Chemical carcinogenesis_Homo sapiens_hsa052040.79802208
59Arginine and proline metabolism_Homo sapiens_hsa003300.79708696
60Basal cell carcinoma_Homo sapiens_hsa052170.78536138
61Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.77851590
62HIF-1 signaling pathway_Homo sapiens_hsa040660.76875016
63Dorso-ventral axis formation_Homo sapiens_hsa043200.75725569
64Choline metabolism in cancer_Homo sapiens_hsa052310.73380272
65Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.72385743
66Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.72079674
67PPAR signaling pathway_Homo sapiens_hsa033200.72001430
68Regulation of actin cytoskeleton_Homo sapiens_hsa048100.70013535
69Prostate cancer_Homo sapiens_hsa052150.68314682
70Histidine metabolism_Homo sapiens_hsa003400.67886212
71N-Glycan biosynthesis_Homo sapiens_hsa005100.65117318
72Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.64788151
73Prion diseases_Homo sapiens_hsa050200.64766031
74Fatty acid elongation_Homo sapiens_hsa000620.64265492
75TGF-beta signaling pathway_Homo sapiens_hsa043500.61842177
76Pancreatic cancer_Homo sapiens_hsa052120.61344714
77alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.59163200
78Vitamin B6 metabolism_Homo sapiens_hsa007500.59151161
79Hedgehog signaling pathway_Homo sapiens_hsa043400.59089234
80Glycerolipid metabolism_Homo sapiens_hsa005610.57391294
81MicroRNAs in cancer_Homo sapiens_hsa052060.57285772
82Vibrio cholerae infection_Homo sapiens_hsa051100.56957864
83Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.56728703
84Thyroid hormone synthesis_Homo sapiens_hsa049180.56129525
85Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.54226177
86Thyroid hormone signaling pathway_Homo sapiens_hsa049190.54030669
87Endometrial cancer_Homo sapiens_hsa052130.51882261
88Glioma_Homo sapiens_hsa052140.51071678
89Fatty acid metabolism_Homo sapiens_hsa012120.50305967
90Pentose phosphate pathway_Homo sapiens_hsa000300.50169328
91Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.48777811
92Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.48570315
93Other glycan degradation_Homo sapiens_hsa005110.47850578
94Melanogenesis_Homo sapiens_hsa049160.45682934
95Thyroid cancer_Homo sapiens_hsa052160.44907766
96Arachidonic acid metabolism_Homo sapiens_hsa005900.44221501
97Gastric acid secretion_Homo sapiens_hsa049710.43122929
98Hepatitis C_Homo sapiens_hsa051600.41390855
99Protein export_Homo sapiens_hsa030600.41383541
100AMPK signaling pathway_Homo sapiens_hsa041520.39474154

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