CYP21A2

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: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. 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
1cellular response to gonadotropin stimulus (GO:0071371)9.76400432
2cellular response to toxic substance (GO:0097237)8.87797718
3Leydig cell differentiation (GO:0033327)8.22556031
4positive regulation of hormone biosynthetic process (GO:0046886)7.78720045
5benzene-containing compound metabolic process (GO:0042537)7.44910356
6cellular response to cadmium ion (GO:0071276)7.17674789
7* hormone biosynthetic process (GO:0042446)7.15989542
8cellular response to epinephrine stimulus (GO:0071872)6.91316081
9ketone biosynthetic process (GO:0042181)6.83367224
10response to gonadotropin (GO:0034698)6.79758678
11response to methylmercury (GO:0051597)6.75862496
12androgen metabolic process (GO:0008209)6.70548292
13response to corticosterone (GO:0051412)6.20964710
14cellular response to interferon-alpha (GO:0035457)6.16127235
15cellular response to growth hormone stimulus (GO:0071378)6.04589086
16mating behavior (GO:0007617)5.91065863
17positive regulation of hormone metabolic process (GO:0032352)5.84449738
18toxin metabolic process (GO:0009404)5.81366881
19response to epinephrine (GO:0071871)5.81107651
20positive regulation of steroid biosynthetic process (GO:0010893)5.21420780
21response to mineralocorticoid (GO:0051385)5.07533030
22pattern specification involved in kidney development (GO:0061004)5.04634951
23estrogen metabolic process (GO:0008210)5.01398729
24response to phenylpropanoid (GO:0080184)4.92668263
25low-density lipoprotein particle clearance (GO:0034383)4.85958759
26positive regulation of male gonad development (GO:2000020)4.84838484
27regulation of steroid hormone biosynthetic process (GO:0090030)4.58556104
28response to leptin (GO:0044321)4.54990944
29adrenal gland development (GO:0030325)4.49465338
30response to lead ion (GO:0010288)4.42680614
31detection of molecule of bacterial origin (GO:0032490)4.25062325
32cytokine metabolic process (GO:0042107)4.16189367
33response to vitamin E (GO:0033197)4.13094485
34intracellular lipid transport (GO:0032365)4.11687199
35ovulation (GO:0030728)4.11575235
36cellular ketone metabolic process (GO:0042180)4.09413578
37cellular response to dexamethasone stimulus (GO:0071549)4.04338708
38positive regulation of triglyceride biosynthetic process (GO:0010867)3.99038276
39vitamin D metabolic process (GO:0042359)3.92071227
40positive regulation of steroid metabolic process (GO:0045940)3.91552305
41regulation of male gonad development (GO:2000018)3.80834839
42* steroid biosynthetic process (GO:0006694)3.79495348
43response to dexamethasone (GO:0071548)3.76853456
44* sterol metabolic process (GO:0016125)3.74327227
45regulation of female gonad development (GO:2000194)3.68764691
46sex differentiation (GO:0007548)3.61331720
47regulation of steroid biosynthetic process (GO:0050810)3.60572897
48regulation of apoptotic cell clearance (GO:2000425)3.52717312
49aggressive behavior (GO:0002118)3.50852728
50regulation of female receptivity (GO:0045924)3.50044619
51adhesion of symbiont to host (GO:0044406)3.43064642
52regulation of cholesterol biosynthetic process (GO:0045540)3.42652839
53cholesterol transport (GO:0030301)3.42241044
54sterol transport (GO:0015918)3.42241044
55response to growth hormone (GO:0060416)3.36672170
56response to antibiotic (GO:0046677)3.34040554
57cellular response to catecholamine stimulus (GO:0071870)3.30067094
58cellular response to monoamine stimulus (GO:0071868)3.30067094
59cholesterol efflux (GO:0033344)3.29175841
60* cellular hormone metabolic process (GO:0034754)3.23802548
61opsonization (GO:0008228)3.23253528
62complement activation, alternative pathway (GO:0006957)3.22411319
63maternal behavior (GO:0042711)3.20713161
64parturition (GO:0007567)3.20159969
65reverse cholesterol transport (GO:0043691)3.13533585
66cholesterol metabolic process (GO:0008203)3.11987451
67purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.11700740
683-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.11700740
69regulation of transmission of nerve impulse (GO:0051969)3.09968077
70regulation of complement activation (GO:0030449)3.07211690
71response to cadmium ion (GO:0046686)3.05297207
72regulation of triglyceride biosynthetic process (GO:0010866)3.04206867
73regulation of cholesterol homeostasis (GO:2000188)3.04023997
74bile acid biosynthetic process (GO:0006699)3.01455187
75multi-organism reproductive behavior (GO:0044705)2.99906156
76female mating behavior (GO:0060180)2.99869663
77positive regulation of nitric-oxide synthase activity (GO:0051000)2.98728588
78high-density lipoprotein particle remodeling (GO:0034375)2.92962778
79regulation of protein activation cascade (GO:2000257)2.92598331
80bile acid metabolic process (GO:0008206)2.91119304
81parental behavior (GO:0060746)2.91103596
82response to catecholamine (GO:0071869)2.87391678
83response to monoamine (GO:0071867)2.87391678
84positive regulation of lipid biosynthetic process (GO:0046889)2.86464260
85response to water (GO:0009415)2.85164650
86positive regulation of triglyceride metabolic process (GO:0090208)2.84649683
87regulation of hormone biosynthetic process (GO:0046885)2.84295057
88maintenance of protein location in nucleus (GO:0051457)2.84185834
89steroid catabolic process (GO:0006706)2.83176906
90* glucocorticoid biosynthetic process (GO:0006704)17.1626953
91C21-steroid hormone biosynthetic process (GO:0006700)15.5075526
92cellular response to follicle-stimulating hormone stimulus (GO:0071372)14.2155639
93androgen biosynthetic process (GO:0006702)13.9212458
94* glucocorticoid metabolic process (GO:0008211)13.3439367
95progesterone metabolic process (GO:0042448)11.9835794
96cellular response to antibiotic (GO:0071236)11.9333605
97response to follicle-stimulating hormone (GO:0032354)11.3812588
98estrogen biosynthetic process (GO:0006703)11.2770334
99C21-steroid hormone metabolic process (GO:0008207)11.0195797
100response to insecticide (GO:0017085)10.0901782

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human5.45243119
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse5.00408483
3FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.40184597
4ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.68145100
5EZH2_22144423_ChIP-Seq_EOC_Human3.35478111
6STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse3.13369473
7GBX2_23144817_ChIP-Seq_PC3_Human3.12358589
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.10239096
9LXR_22158963_ChIP-Seq_LIVER_Mouse2.90150366
10SRY_22984422_ChIP-ChIP_TESTIS_Rat2.71897460
11BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.59680607
12RXR_22158963_ChIP-Seq_LIVER_Mouse2.52471376
13NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.47185287
14CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.36559623
15RBPJ_22232070_ChIP-Seq_NCS_Mouse2.22495191
16CDX2_19796622_ChIP-Seq_MESCs_Mouse2.15112349
17ESR1_20079471_ChIP-ChIP_T-47D_Human2.01773869
18MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse2.00531238
19PPARA_22158963_ChIP-Seq_LIVER_Mouse1.99909456
20CLOCK_20551151_ChIP-Seq_293T_Human1.97995643
21EGR1_23403033_ChIP-Seq_LIVER_Mouse1.88219487
22HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.86747468
23FLI1_27457419_Chip-Seq_LIVER_Mouse1.86437311
24NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.77806018
25NRF2_20460467_ChIP-Seq_MEFs_Mouse1.77806018
26ELK4_26923725_Chip-Seq_MESODERM_Mouse1.76723567
27ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.69226327
28Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.69134818
29PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.61570155
30GF1_26923725_Chip-Seq_HPCs_Mouse1.56905613
31BCAT_22108803_ChIP-Seq_LS180_Human1.56018033
32BP1_19119308_ChIP-ChIP_Hs578T_Human1.53398385
33PCGF2_27294783_Chip-Seq_ESCs_Mouse1.51938719
34ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.49533061
35TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.48938991
36MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.47327186
37ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.38367943
38TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.36192624
39POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.36192624
40TRIM28_21343339_ChIP-Seq_HEK293_Human1.32387634
41PCGF2_27294783_Chip-Seq_NPCs_Mouse1.29448528
42AR_21572438_ChIP-Seq_LNCaP_Human1.28176336
43RNF2_18974828_ChIP-Seq_MESCs_Mouse1.25181690
44EZH2_18974828_ChIP-Seq_MESCs_Mouse1.25181690
45FOXA2_19822575_ChIP-Seq_HepG2_Human1.23958501
46TCF4_22108803_ChIP-Seq_LS180_Human1.20735798
47PIAS1_25552417_ChIP-Seq_VCAP_Human1.20418235
48PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.19615094
49AR_25329375_ChIP-Seq_VCAP_Human1.14692834
50LMO2_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.14040039
51SMAD4_21741376_ChIP-Seq_EPCs_Human1.13199022
52CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12750327
53CTBP2_25329375_ChIP-Seq_LNCAP_Human1.12358949
54GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.11240135
55SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.11094146
56LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09350919
57POU5F1_16518401_ChIP-PET_MESCs_Mouse1.08363947
58ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.07074778
59PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.06584268
60STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.06292020
61TP53_18474530_ChIP-ChIP_U2OS_Human1.06193250
62TBX20_22080862_ChIP-Seq_HEART_Mouse1.05552345
63TBX20_22328084_ChIP-Seq_HEART_Mouse1.05552345
64GATA1_19941826_ChIP-Seq_K562_Human1.03637099
65NR3C1_23031785_ChIP-Seq_PC12_Mouse1.03287613
66SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.02386639
67VDR_22108803_ChIP-Seq_LS180_Human1.00755098
68SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.99718072
69SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.97112444
70NFIB_24661679_ChIP-Seq_LUNG_Mouse0.96520565
71WT1_25993318_ChIP-Seq_PODOCYTE_Human0.95656807
72SMAD4_21799915_ChIP-Seq_A2780_Human0.94843481
73EZH2_27294783_Chip-Seq_NPCs_Mouse0.94659348
74SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.94236141
75ZNF217_24962896_ChIP-Seq_MCF-7_Human0.93670000
76BMI1_23680149_ChIP-Seq_NPCS_Mouse0.93429792
77YAP1_20516196_ChIP-Seq_MESCs_Mouse0.91587563
78DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.91325131
79NFE2_27457419_Chip-Seq_LIVER_Mouse0.91049946
80SUZ12_27294783_Chip-Seq_NPCs_Mouse0.90412087
81EZH2_27304074_Chip-Seq_ESCs_Mouse0.89146833
82GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.87961832
83ESR1_21235772_ChIP-Seq_MCF-7_Human0.87670659
84RNF2_27304074_Chip-Seq_ESCs_Mouse0.87534939
85AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.87183385
86P300_19829295_ChIP-Seq_ESCs_Human0.86358905
87GATA4_25053715_ChIP-Seq_YYC3_Human0.84940990
88GATA2_21666600_ChIP-Seq_HMVEC_Human0.84676189
89ESET_19884257_ChIP-Seq_ESCs_Mouse0.84626097
90HNF4A_19822575_ChIP-Seq_HepG2_Human0.82620812
91CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.81803603
92CDX2_20551321_ChIP-Seq_CACO-2_Human0.81480976
93TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.81148136
94CRX_20693478_ChIP-Seq_RETINA_Mouse0.79803741
95JARID2_20075857_ChIP-Seq_MESCs_Mouse0.78206210
96LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.77625676
97TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.77623183
98IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.77615193
99CBP_20019798_ChIP-Seq_JUKART_Human0.77615193
100CBX2_27304074_Chip-Seq_ESCs_Mouse0.77078387

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000639_abnormal_adrenal_gland7.63097548
2MP0002909_abnormal_adrenal_gland7.02645808
3MP0008995_early_reproductive_senescence6.13705987
4MP0010368_abnormal_lymphatic_system5.34292850
5MP0003941_abnormal_skin_development5.04831134
6MP0009840_abnormal_foam_cell4.81834735
7MP0008004_abnormal_stomach_pH3.44298342
8MP0008875_abnormal_xenobiotic_pharmacok3.40650403
9MP0001661_extended_life_span2.64734599
10MP0001984_abnormal_olfaction2.64339909
11MP0003122_maternal_imprinting2.63546685
12MP0002837_dystrophic_cardiac_calcinosis2.56887468
13MP0005083_abnormal_biliary_tract2.49537892
14MP0002254_reproductive_system_inflammat2.32916583
15MP0009780_abnormal_chondrocyte_physiolo2.31311891
16MP0003329_amyloid_beta_deposits2.16861227
17MP0003011_delayed_dark_adaptation2.10907537
18MP0001765_abnormal_ion_homeostasis2.07744353
19MP0003786_premature_aging2.06538555
20MP0000647_abnormal_sebaceous_gland1.86170040
21MP0000604_amyloidosis1.82271149
22MP0005379_endocrine/exocrine_gland_phen1.78554751
23MP0001879_abnormal_lymphatic_vessel1.74753691
24MP0005636_abnormal_mineral_homeostasis1.74202912
25MP0000631_abnormal_neuroendocrine_gland1.68318672
26MP0006276_abnormal_autonomic_nervous1.55142363
27MP0005187_abnormal_penis_morphology1.53266270
28MP0003121_genomic_imprinting1.49346260
29MP0001485_abnormal_pinna_reflex1.40482001
30MP0003191_abnormal_cellular_cholesterol1.37986926
31MP0010329_abnormal_lipoprotein_level1.33986017
32MP0003953_abnormal_hormone_level1.31050131
33MP0003879_abnormal_hair_cell1.24825332
34MP0003315_abnormal_perineum_morphology1.23584824
35MP0000230_abnormal_systemic_arterial1.22428356
36MP0002160_abnormal_reproductive_system1.20880815
37MP0005365_abnormal_bile_salt1.16563448
38MP0002557_abnormal_social/conspecific_i1.13313090
39MP0002269_muscular_atrophy1.06769072
40MP0003959_abnormal_lean_body1.04702013
41MP0004019_abnormal_vitamin_homeostasis1.04629745
42MP0001119_abnormal_female_reproductive1.04093945
43MP0003878_abnormal_ear_physiology1.02584223
44MP0005377_hearing/vestibular/ear_phenot1.02584223
45MP0006035_abnormal_mitochondrial_morpho1.00104154
46MP0004883_abnormal_blood_vessel0.92469220
47MP0003136_yellow_coat_color0.89940096
48MP0005248_abnormal_Harderian_gland0.85681809
49MP0002118_abnormal_lipid_homeostasis0.83073724
50MP0002938_white_spotting0.83012423
51MP0003690_abnormal_glial_cell0.79194974
52MP0004134_abnormal_chest_morphology0.78691696
53MP0005595_abnormal_vascular_smooth0.74083538
54MP0004085_abnormal_heartbeat0.73533157
55MP0001915_intracranial_hemorrhage0.73208541
56MP0003632_abnormal_nervous_system0.69460779
57MP0003950_abnormal_plasma_membrane0.68598059
58MP0005334_abnormal_fat_pad0.68579761
59MP0005319_abnormal_enzyme/_coenzyme0.68088944
60MP0005253_abnormal_eye_physiology0.66574054
61MP0005389_reproductive_system_phenotype0.64816286
62MP0000013_abnormal_adipose_tissue0.64636561
63MP0000609_abnormal_liver_physiology0.60561932
64MP0000343_altered_response_to0.59698419
65MP0000751_myopathy0.59170910
66MP0001929_abnormal_gametogenesis0.57815842
67MP0008007_abnormal_cellular_replicative0.52821212
68MP0005360_urolithiasis0.52719847
69MP0004484_altered_response_of0.52051081
70MP0004742_abnormal_vestibular_system0.51653277
71MP0000653_abnormal_sex_gland0.50882819
72MP0005058_abnormal_lysosome_morphology0.50648912
73MP0005332_abnormal_amino_acid0.50538522
74MP0009642_abnormal_blood_homeostasis0.50467967
75MP0005167_abnormal_blood-brain_barrier0.49496866
76MP0002139_abnormal_hepatobiliary_system0.47913127
77MP0000778_abnormal_nervous_system0.46035304
78MP0001324_abnormal_eye_pigmentation0.45897917
79MP0001666_abnormal_nutrient_absorption0.45749787
80MP0002210_abnormal_sex_determination0.44946199
81MP0003385_abnormal_body_wall0.44501401
82MP0008438_abnormal_cutaneous_collagen0.44353133
83MP0003787_abnormal_imprinting0.43950691
84MP0005410_abnormal_fertilization0.42048537
85MP0002998_abnormal_bone_remodeling0.40452813
86MP0005164_abnormal_response_to0.40097466
87MP0000249_abnormal_blood_vessel0.39309309
88MP0000598_abnormal_liver_morphology0.36968183
89MP0003699_abnormal_female_reproductive0.36262538
90MP0001486_abnormal_startle_reflex0.34517520
91MP0001145_abnormal_male_reproductive0.34392287
92MP0005076_abnormal_cell_differentiation0.33431745
93MP0002876_abnormal_thyroid_physiology0.33340712
94MP0005647_abnormal_sex_gland0.32964552
95MP0002653_abnormal_ependyma_morphology0.30406505
96MP0003137_abnormal_impulse_conducting0.29590500
97MP0005448_abnormal_energy_balance0.28916846
98MP0002127_abnormal_cardiovascular_syste0.28262061
99MP0002971_abnormal_brown_adipose0.28088682
100MP0002277_abnormal_respiratory_mucosa0.27396955

Predicted human phenotypes

RankGene SetZ-score
1Enlarged penis (HP:0000040)8.36581467
2Abnormal sex determination (HP:0012244)7.98511198
3Sex reversal (HP:0012245)7.98511198
4Hypoplasia of the uterus (HP:0000013)7.12663152
5Hypokalemic alkalosis (HP:0001949)6.61819501
6Adrenal overactivity (HP:0002717)5.81014794
7Clitoromegaly (HP:0000057)5.31173780
8Complement deficiency (HP:0004431)5.22566506
9Aplasia/hypoplasia of the uterus (HP:0008684)5.12405328
10Male pseudohermaphroditism (HP:0000037)5.03525001
11Abnormality of renin-angiotensin system (HP:0000847)4.99684253
12Testicular neoplasm (HP:0010788)4.11299447
13Gonadal dysgenesis (HP:0000133)4.03134363
14Azoospermia (HP:0000027)4.00635445
15Abnormality of complement system (HP:0005339)3.78906102
16Abnormality of the clitoris (HP:0000056)3.56833171
17Neonatal onset (HP:0003623)3.55431860
18Recurrent gram-negative bacterial infections (HP:0005420)3.50894295
19Hypokalemia (HP:0002900)3.46519377
20Accelerated skeletal maturation (HP:0005616)3.32451841
21Alkalosis (HP:0001948)3.28960061
22Secondary amenorrhea (HP:0000869)3.27330277
23Abnormality of the axillary hair (HP:0100134)3.06524777
24Abnormality of secondary sexual hair (HP:0009888)3.06524777
25Epidermoid cyst (HP:0200040)3.00505686
26Choanal stenosis (HP:0000452)2.96271998
27Premature ovarian failure (HP:0008209)2.91846135
28Abnormal spermatogenesis (HP:0008669)2.88574515
29Xanthomatosis (HP:0000991)2.86861996
30Glomerulonephritis (HP:0000099)2.83969254
31Decreased testicular size (HP:0008734)2.82470815
32Mitral stenosis (HP:0001718)2.72808444
33Bicornuate uterus (HP:0000813)2.61814441
34Hyperpituitarism (HP:0010514)2.60774547
35Bifid tongue (HP:0010297)2.55315717
36Aplasia of the musculature (HP:0100854)2.53135306
37Absent eyebrow (HP:0002223)2.50934075
38Primary amenorrhea (HP:0000786)2.48853637
39Neurofibrillary tangles (HP:0002185)2.46888321
40Abnormality of potassium homeostasis (HP:0011042)2.41624939
41Tracheal stenosis (HP:0002777)2.31271339
42Systemic lupus erythematosus (HP:0002725)2.25919215
43Morphological abnormality of the middle ear (HP:0008609)2.25873165
44Ventricular fibrillation (HP:0001663)2.24810334
45Female pseudohermaphroditism (HP:0010458)2.24134111
46Congenital sensorineural hearing impairment (HP:0008527)2.20649772
47Mucopolysacchariduria (HP:0008155)2.20305438
48Urinary glycosaminoglycan excretion (HP:0003541)2.20305438
49Midline defect of the nose (HP:0004122)2.18290518
50Myelomeningocele (HP:0002475)2.15885955
51Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.14736402
52Sparse lateral eyebrow (HP:0005338)2.11616215
53Mesangial abnormality (HP:0001966)2.04051546
54Shawl scrotum (HP:0000049)2.03788346
55Abnormality of polysaccharide metabolism (HP:0011012)2.01828569
56Abnormality of glycosaminoglycan metabolism (HP:0004371)2.01828569
57Abnormality of mucopolysaccharide metabolism (HP:0011020)2.01828569
58Decreased circulating renin level (HP:0003351)10.5881712
59* Renal salt wasting (HP:0000127)10.3668548
60Hyperaldosteronism (HP:0000859)10.0524163
61Large earlobe (HP:0009748)1.99498863
62* Hypospadias (HP:0000047)1.97959082
63Congenital malformation of the right heart (HP:0011723)1.95554403
64Double outlet right ventricle (HP:0001719)1.95554403
65Scrotal hypoplasia (HP:0000046)1.95081016
66Bilateral microphthalmos (HP:0007633)1.94961742
67Hypoplastic nipples (HP:0002557)1.90914287
68Skin nodule (HP:0200036)1.84599519
69Abnormal pancreas size (HP:0012094)1.75661394
70Absent hair (HP:0002298)1.73783603
71Precocious puberty (HP:0000826)1.73374430
72Absent eyelashes (HP:0000561)1.72623977
73Cerebral inclusion bodies (HP:0100314)1.71696656
74* Gynecomastia (HP:0000771)1.68599791
75Acne (HP:0001061)1.67678249
76Resting tremor (HP:0002322)1.67667256
77Vaginal atresia (HP:0000148)1.64048885
78Cerebral palsy (HP:0100021)1.63715098
79Cupped ear (HP:0000378)1.62151448
80Hypercortisolism (HP:0001578)1.56787949
81Cutaneous finger syndactyly (HP:0010554)1.55489317
82Syncope (HP:0001279)1.55029791
83Metaphyseal dysplasia (HP:0100255)1.54469742
84Ectopic anus (HP:0004397)1.54127400
85Genital tract atresia (HP:0001827)1.53574429
86Nephritis (HP:0000123)1.53485021
87Bilateral sensorineural hearing impairment (HP:0008619)1.52846193
88Visceral angiomatosis (HP:0100761)1.51062274
89Prolonged QT interval (HP:0001657)1.50662136
90Patent foramen ovale (HP:0001655)1.49675027
91Aplasia/Hypoplasia involving the musculature (HP:0001460)1.49237280
92Atrioventricular block (HP:0001678)1.48798315
93Abnormality of the pubic bones (HP:0003172)1.46377955
94Vertebral clefting (HP:0008428)1.46167436
95Cervical subluxation (HP:0003308)1.45017408
96Breast hypoplasia (HP:0003187)1.43390985
97Primary adrenal insufficiency (HP:0008207)1.42639778
98Abnormality of the aortic arch (HP:0012303)1.41479061
99Bifid scrotum (HP:0000048)1.41420181
100Facial cleft (HP:0002006)1.40289345

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TAOK33.77661338
2PIM23.68871402
3BMPR1B3.21643239
4MAP3K53.17379210
5DDR22.78240902
6SIK12.76050912
7MELK2.45855755
8CDK72.35063204
9JAK12.12567085
10ICK2.12269243
11AKT310.3830312
12DYRK1B1.92263776
13PINK11.88249527
14PIM11.83520104
15PDK21.57067379
16CDK61.51553542
17TGFBR11.45673606
18CAMK1D1.43858003
19AKT21.26773655
20EIF2AK31.26026605
21PDK11.10246893
22JAK21.09346476
23GRK51.06280967
24EPHA41.04100938
25PDPK11.02283515
26CDK81.01832264
27CAMK1G1.00197767
28FGFR40.99671700
29MAPK120.92166511
30PKN20.91283811
31NTRK30.90439781
32PRKAA20.90037646
33NLK0.81460910
34SGK10.77423817
35PDGFRB0.73663390
36FRK0.73569887
37YES10.72066842
38NTRK10.71951122
39BCKDK0.71714735
40STK390.71643037
41CSNK1A1L0.68998787
42PRKCZ0.61395117
43MTOR0.58835732
44FGFR20.57118234
45TIE10.57040098
46MAP2K20.55918371
47PHKG20.54924052
48PHKG10.54924052
49MYLK0.54322009
50MAPK30.54083871
51DAPK30.53951377
52ERBB40.51622705
53TBK10.51535460
54CAMK2D0.50353940
55MAP3K40.49150164
56ACVR1B0.49091560
57INSRR0.48407127
58CSF1R0.47898114
59CSNK1G20.46482191
60FER0.46111307
61PTK60.45896983
62CAMK2B0.42209053
63CDK90.40736629
64ABL20.39971591
65CSNK1G10.39558689
66PRKACA0.39397610
67CHUK0.38995649
68KDR0.37777387
69STK100.37619584
70CSNK1G30.36276863
71LATS20.35694444
72CAMK2G0.34060254
73MAP2K70.33663464
74NEK90.33547212
75ERBB20.32678177
76MAP2K40.30013588
77MAP3K20.29980362
78MAPK10.29687322
79PRKD30.28625350
80TGFBR20.27453057
81MAPK70.26075657
82WNK30.25139106
83PRKCH0.25133203
84NTRK20.24534228
85RPS6KA30.23828604
86RET0.23655319
87SCYL20.23486103
88MAP2K60.22722678
89PRKAA10.20928611
90MAP3K60.20539932
91ABL10.20026032
92MAPK40.19392048
93AKT10.19046858
94PRKD10.18697587
95OXSR10.16860224
96MAPK140.15971791
97EPHA30.15946620
98ROCK10.15396039
99PDGFRA0.15255609
100IGF1R0.15000275

Predicted pathways (KEGG)

RankGene SetZ-score
1Ovarian steroidogenesis_Homo sapiens_hsa049137.26925029
2Vitamin B6 metabolism_Homo sapiens_hsa007505.60282346
3* Steroid hormone biosynthesis_Homo sapiens_hsa001405.58641614
4Steroid biosynthesis_Homo sapiens_hsa001005.32179575
5* Aldosterone synthesis and secretion_Homo sapiens_hsa049254.42088889
6Complement and coagulation cascades_Homo sapiens_hsa046102.45915065
7Bile secretion_Homo sapiens_hsa049762.19369320
8Sulfur metabolism_Homo sapiens_hsa009202.14528029
9Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.12975821
10Tryptophan metabolism_Homo sapiens_hsa003801.82627794
11Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.67236578
12Chemical carcinogenesis_Homo sapiens_hsa052041.65224422
13Prion diseases_Homo sapiens_hsa050201.56084923
14Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.54328114
15Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.50167415
16Fatty acid degradation_Homo sapiens_hsa000711.36916167
17Histidine metabolism_Homo sapiens_hsa003401.33297515
18Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.32335021
19Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.30600821
20Vitamin digestion and absorption_Homo sapiens_hsa049771.30543920
21Fat digestion and absorption_Homo sapiens_hsa049751.29176326
22Tyrosine metabolism_Homo sapiens_hsa003501.25648726
23Selenocompound metabolism_Homo sapiens_hsa004501.23174731
24Retinol metabolism_Homo sapiens_hsa008301.15556561
25Pyruvate metabolism_Homo sapiens_hsa006201.11995070
26ABC transporters_Homo sapiens_hsa020101.04603709
27Prolactin signaling pathway_Homo sapiens_hsa049171.04369108
28beta-Alanine metabolism_Homo sapiens_hsa004101.03409283
29Glycosaminoglycan degradation_Homo sapiens_hsa005311.00949258
30Propanoate metabolism_Homo sapiens_hsa006400.99244093
31Primary bile acid biosynthesis_Homo sapiens_hsa001200.98913629
32Staphylococcus aureus infection_Homo sapiens_hsa051500.94482755
33Sulfur relay system_Homo sapiens_hsa041220.92132299
34Fatty acid metabolism_Homo sapiens_hsa012120.79065891
35Pentose and glucuronate interconversions_Homo sapiens_hsa000400.76960629
36Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.74020854
37Circadian rhythm_Homo sapiens_hsa047100.71898119
38Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.69034092
39Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.62119647
40Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.57069394
41ECM-receptor interaction_Homo sapiens_hsa045120.56012756
42Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.54708899
43Lysine degradation_Homo sapiens_hsa003100.50980023
44Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.50010735
45Butanoate metabolism_Homo sapiens_hsa006500.49756771
46Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.45014204
47Pertussis_Homo sapiens_hsa051330.44386909
48Sphingolipid metabolism_Homo sapiens_hsa006000.43529826
49Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.42256190
50Peroxisome_Homo sapiens_hsa041460.42237594
51PPAR signaling pathway_Homo sapiens_hsa033200.41741011
52Glycerolipid metabolism_Homo sapiens_hsa005610.40629382
53Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.39218301
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.37539598
55Fatty acid biosynthesis_Homo sapiens_hsa000610.37505733
56Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.33288171
57Lysosome_Homo sapiens_hsa041420.32885686
58Fatty acid elongation_Homo sapiens_hsa000620.32469012
59Renin-angiotensin system_Homo sapiens_hsa046140.32457108
60* Metabolic pathways_Homo sapiens_hsa011000.31338697
61Vibrio cholerae infection_Homo sapiens_hsa051100.29975052
622-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.29757683
63Systemic lupus erythematosus_Homo sapiens_hsa053220.29334513
64Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.28361891
65Arginine biosynthesis_Homo sapiens_hsa002200.27979182
66Caffeine metabolism_Homo sapiens_hsa002320.27041872
67alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.27004796
68Hepatitis C_Homo sapiens_hsa051600.25707842
69Adipocytokine signaling pathway_Homo sapiens_hsa049200.24997152
70Phospholipase D signaling pathway_Homo sapiens_hsa040720.24165248
71Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.22800443
72Glutathione metabolism_Homo sapiens_hsa004800.22550027
73Vascular smooth muscle contraction_Homo sapiens_hsa042700.22355569
74Other glycan degradation_Homo sapiens_hsa005110.22107158
75Dorso-ventral axis formation_Homo sapiens_hsa043200.20376368
76Melanoma_Homo sapiens_hsa052180.20162951
77Linoleic acid metabolism_Homo sapiens_hsa005910.19724677
78Carbon metabolism_Homo sapiens_hsa012000.19636959
79GnRH signaling pathway_Homo sapiens_hsa049120.18655602
80TGF-beta signaling pathway_Homo sapiens_hsa043500.16399223
81Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.16219727
82Focal adhesion_Homo sapiens_hsa045100.14835116
83Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.14742554
84Mineral absorption_Homo sapiens_hsa049780.12450294
85FoxO signaling pathway_Homo sapiens_hsa040680.12382186
86Phenylalanine metabolism_Homo sapiens_hsa003600.11435720
87Calcium signaling pathway_Homo sapiens_hsa040200.10401945
88Ras signaling pathway_Homo sapiens_hsa040140.06800846
89Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.06470153
90AMPK signaling pathway_Homo sapiens_hsa041520.06094019
91Prostate cancer_Homo sapiens_hsa052150.05273687
92Glycerophospholipid metabolism_Homo sapiens_hsa005640.04943901
93Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.04441545
94Choline metabolism in cancer_Homo sapiens_hsa052310.04259368
95PI3K-Akt signaling pathway_Homo sapiens_hsa041510.03999965
96Insulin resistance_Homo sapiens_hsa049310.02958470
97Protein digestion and absorption_Homo sapiens_hsa049740.02374902
98Ether lipid metabolism_Homo sapiens_hsa005650.01455808
99Gastric acid secretion_Homo sapiens_hsa049710.01151993
100Jak-STAT signaling pathway_Homo sapiens_hsa046300.00975470

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