DEFB132

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: Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1triglyceride catabolic process (GO:0019433)9.13031634
2neutral lipid catabolic process (GO:0046461)8.16989728
3acylglycerol catabolic process (GO:0046464)8.16989728
4regulation of sequestering of triglyceride (GO:0010889)7.83628204
5transcytosis (GO:0045056)6.48182216
6response to dietary excess (GO:0002021)6.44042567
7fatty acid homeostasis (GO:0055089)6.23506682
8glycerolipid catabolic process (GO:0046503)5.91328748
9NADH metabolic process (GO:0006734)5.62772915
10diacylglycerol metabolic process (GO:0046339)5.53653002
11lipid storage (GO:0019915)5.22959566
12white fat cell differentiation (GO:0050872)5.21926139
13brown fat cell differentiation (GO:0050873)5.02497391
14ethanol oxidation (GO:0006069)5.00244318
15plasma lipoprotein particle clearance (GO:0034381)4.85949045
16triglyceride biosynthetic process (GO:0019432)4.84330543
17regulation of glycogen (starch) synthase activity (GO:2000465)4.83693855
18lipid particle organization (GO:0034389)4.78860368
19ovulation from ovarian follicle (GO:0001542)4.77808584
20positive regulation of cellular response to insulin stimulus (GO:1900078)4.75240654
21positive regulation of glomerulus development (GO:0090193)4.70510407
22negative regulation of amino acid transport (GO:0051956)4.69192524
23regulation of cholesterol storage (GO:0010885)4.65722702
24positive regulation of triglyceride lipase activity (GO:0061365)4.63382495
25positive regulation of lipoprotein lipase activity (GO:0051006)4.63382495
26acylglycerol biosynthetic process (GO:0046463)4.62224460
27neutral lipid biosynthetic process (GO:0046460)4.62224460
28CDP-diacylglycerol biosynthetic process (GO:0016024)4.62144261
29biotin metabolic process (GO:0006768)4.61261296
30oxaloacetate metabolic process (GO:0006107)4.48745946
31CDP-diacylglycerol metabolic process (GO:0046341)4.46723782
32regulation of cAMP-dependent protein kinase activity (GO:2000479)4.42004018
33triglyceride metabolic process (GO:0006641)4.36811262
34protein heterotrimerization (GO:0070208)4.36278433
35primary alcohol metabolic process (GO:0034308)4.36254024
36negative regulation of macrophage differentiation (GO:0045650)4.32628529
37regulation of gonadotropin secretion (GO:0032276)4.29849463
38valine metabolic process (GO:0006573)4.25567971
39negative regulation of macrophage derived foam cell differentiation (GO:0010745)4.19809717
40negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)4.17425999
41regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)4.11627864
42negative regulation of granulocyte differentiation (GO:0030853)4.07709504
43glycerol metabolic process (GO:0006071)4.04294175
44acylglycerol metabolic process (GO:0006639)4.03305026
45positive regulation of lipid storage (GO:0010884)4.00352743
46retinol metabolic process (GO:0042572)3.99135576
47positive regulation of insulin receptor signaling pathway (GO:0046628)3.98420179
48cellular response to epinephrine stimulus (GO:0071872)3.98338267
49neutral lipid metabolic process (GO:0006638)3.97537869
50regulation of macrophage derived foam cell differentiation (GO:0010743)3.89868096
51regulation of lipoprotein metabolic process (GO:0050746)3.84888627
52ethanol metabolic process (GO:0006067)3.82956446
53polyketide metabolic process (GO:0030638)3.82137559
54doxorubicin metabolic process (GO:0044598)3.82137559
55daunorubicin metabolic process (GO:0044597)3.82137559
56alpha-linolenic acid metabolic process (GO:0036109)3.81427180
57tricarboxylic acid metabolic process (GO:0072350)3.81390254
58acylglycerol homeostasis (GO:0055090)3.79709902
59triglyceride homeostasis (GO:0070328)3.79709902
60positive regulation of glucose import (GO:0046326)3.78008296
61cellular response to lithium ion (GO:0071285)3.76674430
62alditol metabolic process (GO:0019400)3.71393954
63fatty acid beta-oxidation (GO:0006635)3.70701608
64phosphatidic acid metabolic process (GO:0046473)3.69933326
65phosphatidic acid biosynthetic process (GO:0006654)3.69933326
66positive regulation of macrophage derived foam cell differentiation (GO:0010744)3.63918690
67cellular response to leptin stimulus (GO:0044320)3.61918463
68polyol transport (GO:0015791)3.59435773
69positive regulation of glycolytic process (GO:0045821)3.56893241
70negative regulation of appetite (GO:0032099)3.46811685
71negative regulation of response to food (GO:0032096)3.46811685
72negative regulation of metanephros development (GO:0072217)3.46006478
73response to vitamin E (GO:0033197)3.44123054
74positive regulation of cholesterol efflux (GO:0010875)3.43142787
75response to phenylpropanoid (GO:0080184)3.42002846
76triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.41249150
77negative regulation of protein autophosphorylation (GO:0031953)3.41015814
78regulation of receptor binding (GO:1900120)3.40586062
79protein localization to cell surface (GO:0034394)3.39228131
80primary alcohol catabolic process (GO:0034310)3.39112599
81fatty acid catabolic process (GO:0009062)3.38404603
82positive regulation of fatty acid metabolic process (GO:0045923)3.36344081
83erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.36133486
84L-phenylalanine catabolic process (GO:0006559)3.36133486
85aminoglycoside antibiotic metabolic process (GO:0030647)3.35291399
86endocrine hormone secretion (GO:0060986)3.34290124
87negative regulation of phagocytosis (GO:0050765)3.32727160
88L-phenylalanine metabolic process (GO:0006558)3.32527654
89erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.32527654
90negative regulation of DNA biosynthetic process (GO:2000279)3.32310268
91response to epinephrine (GO:0071871)3.31659402
92fatty acid transmembrane transport (GO:1902001)3.28759435
93negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)3.27500428
94retina vasculature morphogenesis in camera-type eye (GO:0061299)3.26368580
95positive regulation of fatty acid oxidation (GO:0046321)3.24173093
96regulation of triglyceride catabolic process (GO:0010896)3.23872755
97regulation of lipid catabolic process (GO:0050994)3.23577157
98adult feeding behavior (GO:0008343)3.21127350
99tyrosine phosphorylation of STAT protein (GO:0007260)3.20772865
100low-density lipoprotein particle clearance (GO:0034383)10.5123903

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse5.81903063
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.17361233
3FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.15959146
4RXR_22158963_ChIP-Seq_LIVER_Mouse3.44732815
5RARG_19884340_ChIP-ChIP_MEFs_Mouse3.34479230
6CLOCK_20551151_ChIP-Seq_293T_Human3.28449006
7STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse3.18316682
8PPARA_22158963_ChIP-Seq_LIVER_Mouse3.13509910
9LXR_22158963_ChIP-Seq_LIVER_Mouse2.93268718
10TRIM28_21343339_ChIP-Seq_HEK293_Human2.61011471
11PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.03191826
12PPARG_19300518_ChIP-PET_3T3-L1_Mouse12.7578792
13PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.97196814
14ESR2_21235772_ChIP-Seq_MCF-7_Human1.75714358
15CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.71350510
16PPARG_20887899_ChIP-Seq_3T3-L1_Mouse1.68288742
17EGR1_23403033_ChIP-Seq_LIVER_Mouse1.62205731
18TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.57611174
19TBX20_22080862_ChIP-Seq_HEART_Mouse1.54363073
20TBX20_22328084_ChIP-Seq_HEART_Mouse1.54363073
21NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.51638806
22ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.46095451
23SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.39024503
24GATA2_21666600_ChIP-Seq_HMVEC_Human1.33515530
25EZH2_18974828_ChIP-Seq_MESCs_Mouse1.31090825
26RNF2_18974828_ChIP-Seq_MESCs_Mouse1.31090825
27ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.23412845
28PIAS1_25552417_ChIP-Seq_VCAP_Human1.22733558
29BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.22207732
30PPAR_26484153_Chip-Seq_NCI-H1993_Human1.18655731
31TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.17682764
32SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.13782873
33SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.13168960
34EED_16625203_ChIP-ChIP_MESCs_Mouse1.13022923
35MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.12402303
36THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.10820630
37MTF2_20144788_ChIP-Seq_MESCs_Mouse1.10692907
38NR3C1_23031785_ChIP-Seq_PC12_Mouse1.10387158
39RAD21_21589869_ChIP-Seq_MESCs_Mouse1.09367873
40BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.08624909
41ZNF263_19887448_ChIP-Seq_K562_Human1.04948358
42DNAJC2_21179169_ChIP-ChIP_NT2_Human1.03840223
43CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.03206447
44SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.02867021
45NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.02719006
46ERG_21242973_ChIP-ChIP_JURKAT_Human1.01139347
47CBP_21632823_ChIP-Seq_H3396_Human0.98752502
48NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.98049820
49SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.97778498
50CDX2_19796622_ChIP-Seq_MESCs_Mouse0.96174765
51TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.94766278
52SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.91442102
53WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.89257427
54CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.88662558
55RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.88527259
56ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.88240126
57CJUN_26792858_Chip-Seq_BT549_Human0.88094172
58SOX2_20726797_ChIP-Seq_SW620_Human0.87795302
59SA1_22415368_ChIP-Seq_MEFs_Mouse0.86826797
60ELK3_25401928_ChIP-Seq_HUVEC_Human0.83288340
61EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.82993505
62GATA1_22025678_ChIP-Seq_K562_Human0.82519717
63TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.81418061
64CTCF_27219007_Chip-Seq_Bcells_Human0.80811854
65KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.80766315
66TP53_20018659_ChIP-ChIP_R1E_Mouse0.79492126
67SMC4_20622854_ChIP-Seq_HELA_Human0.79043774
68STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.78819100
69SMC3_22415368_ChIP-Seq_MEFs_Mouse0.78004917
70EZH2_27304074_Chip-Seq_ESCs_Mouse0.76933884
71SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.76884027
72HIF1A_21447827_ChIP-Seq_MCF-7_Human0.74670337
73BCAT_22108803_ChIP-Seq_LS180_Human0.74499022
74P63_26484246_Chip-Seq_KERATINOCYTES_Human0.74308382
75STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.74006069
76CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.73509864
77LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.71773615
78TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.71569858
79SOX9_24532713_ChIP-Seq_HFSC_Mouse0.70304532
80SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.68415184
81SA1_27219007_Chip-Seq_Bcells_Human0.67689829
82SMC1_22415368_ChIP-Seq_MEFs_Mouse0.67428984
83SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.67297918
84* KLF4_19829295_ChIP-Seq_ESCs_Human0.67173325
85ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.66857751
86SOX11_22085726_ChIP-Seq_ESNs_Mouse0.66687740
87WT1_25993318_ChIP-Seq_PODOCYTE_Human0.66264486
88LXR_22292898_ChIP-Seq_THP-1_Human0.65791897
89LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.65747195
90JARID2_20075857_ChIP-Seq_MESCs_Mouse0.65700823
91CTCF_18555785_ChIP-Seq_MESCs_Mouse0.65588866
92NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.65455704
93P68_20966046_ChIP-Seq_HELA_Human0.64985735
94SOX3_22085726_ChIP-Seq_MUSCLE_Mouse0.64938661
95FOXA2_19822575_ChIP-Seq_HepG2_Human0.64103197
96GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.63969276
97TET1_21490601_ChIP-Seq_MESCs_Mouse0.63574528
98GATA3_24758297_ChIP-Seq_MCF-7_Human0.61348005
99RACK7_27058665_Chip-Seq_MCF-7_Human0.61181053
100FOXO3_23340844_ChIP-Seq_DLD1_Human0.59762110

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005670_abnormal_white_adipose8.41981078
2MP0005666_abnormal_adipose_tissue5.91147278
3MP0004130_abnormal_muscle_cell5.01982019
4MP0004185_abnormal_adipocyte_glucose4.80030422
5MP0002971_abnormal_brown_adipose4.39602361
6MP0005375_adipose_tissue_phenotype4.27585636
7MP0002876_abnormal_thyroid_physiology3.32235862
8MP0009115_abnormal_fat_cell3.25570682
9MP0010329_abnormal_lipoprotein_level2.99771594
10MP0003959_abnormal_lean_body2.68629004
11MP0002970_abnormal_white_adipose2.62323649
12MP0005334_abnormal_fat_pad2.50682102
13MP0003011_delayed_dark_adaptation2.46406597
14MP0000003_abnormal_adipose_tissue2.46294769
15MP0003186_abnormal_redox_activity2.43910869
16MP0005535_abnormal_body_temperature2.36450011
17MP0003724_increased_susceptibility_to2.16480334
18MP0002118_abnormal_lipid_homeostasis2.06179132
19MP0005503_abnormal_tendon_morphology2.00468730
20MP0003828_pulmonary_edema1.93303749
21MP0006138_congestive_heart_failure1.92383190
22MP0001661_extended_life_span1.90144179
23MP0002909_abnormal_adrenal_gland1.89900836
24MP0003868_abnormal_feces_composition1.86437973
25MP0003690_abnormal_glial_cell1.85811123
26MP0005379_endocrine/exocrine_gland_phen1.81459241
27MP0005448_abnormal_energy_balance1.78414313
28MP0005452_abnormal_adipose_tissue1.59460657
29MP0002638_abnormal_pupillary_reflex1.52814716
30MP0005365_abnormal_bile_salt1.46637417
31MP0002108_abnormal_muscle_morphology1.45887729
32MP0005275_abnormal_skin_tensile1.45852714
33MP0005167_abnormal_blood-brain_barrier1.44531539
34MP0003705_abnormal_hypodermis_morpholog1.42849437
35MP0002078_abnormal_glucose_homeostasis1.35628979
36MP0001881_abnormal_mammary_gland1.24689657
37MP0000013_abnormal_adipose_tissue1.23606567
38MP0005385_cardiovascular_system_phenoty1.22219540
39MP0001544_abnormal_cardiovascular_syste1.22219540
40MP0008438_abnormal_cutaneous_collagen1.19024982
41MP0003950_abnormal_plasma_membrane1.16183645
42MP0006036_abnormal_mitochondrial_physio1.13520568
43MP0000609_abnormal_liver_physiology1.12090651
44MP0000343_altered_response_to1.10505657
45MP0006276_abnormal_autonomic_nervous1.06561914
46MP0009780_abnormal_chondrocyte_physiolo1.05816978
47MP0004215_abnormal_myocardial_fiber1.02182265
48MP0001764_abnormal_homeostasis1.02055758
49MP0003191_abnormal_cellular_cholesterol1.00784979
50MP0005647_abnormal_sex_gland0.99242733
51MP0002139_abnormal_hepatobiliary_system0.96541761
52MP0000751_myopathy0.94727942
53MP0001727_abnormal_embryo_implantation0.94517021
54MP0001879_abnormal_lymphatic_vessel0.94116247
55MP0005584_abnormal_enzyme/coenzyme_acti0.90996602
56MP0003948_abnormal_gas_homeostasis0.87942711
57MP0005595_abnormal_vascular_smooth0.85688787
58MP0004019_abnormal_vitamin_homeostasis0.85232805
59MP0002796_impaired_skin_barrier0.85227795
60MP0000759_abnormal_skeletal_muscle0.84939962
61MP0001501_abnormal_sleep_pattern0.83678488
62MP0004782_abnormal_surfactant_physiolog0.83456730
63MP0000858_altered_metastatic_potential0.79876863
64MP0003953_abnormal_hormone_level0.79012897
65MP0004087_abnormal_muscle_fiber0.78520786
66MP0005164_abnormal_response_to0.78362795
67MP0000249_abnormal_blood_vessel0.75551165
68MP0002933_joint_inflammation0.74466864
69MP0004272_abnormal_basement_membrane0.73810476
70MP0002295_abnormal_pulmonary_circulatio0.70803256
71MP0000230_abnormal_systemic_arterial0.70228362
72MP0009643_abnormal_urine_homeostasis0.69616036
73MP0005332_abnormal_amino_acid0.65953515
74MP0001944_abnormal_pancreas_morphology0.65593588
75MP0005266_abnormal_metabolism0.62587976
76MP0004858_abnormal_nervous_system0.60953374
77MP0008775_abnormal_heart_ventricle0.60012736
78MP0010368_abnormal_lymphatic_system0.59212397
79MP0000627_abnormal_mammary_gland0.59021710
80MP0003279_aneurysm0.58787408
81MP0003075_altered_response_to0.57687031
82MP0001177_atelectasis0.56851323
83MP0009672_abnormal_birth_weight0.56836776
84MP0003879_abnormal_hair_cell0.54993974
85MP0005360_urolithiasis0.54484647
86MP0002133_abnormal_respiratory_system0.54348529
87MP0005388_respiratory_system_phenotype0.54348529
88MP0002972_abnormal_cardiac_muscle0.49172773
89MP0005620_abnormal_muscle_contractility0.47893562
90MP0010630_abnormal_cardiac_muscle0.44936814
91MP0003448_altered_tumor_morphology0.44214885
92MP0002069_abnormal_eating/drinking_beha0.42132374
93MP0000598_abnormal_liver_morphology0.41403189
94MP0005084_abnormal_gallbladder_morpholo0.40441307
95MP0000749_muscle_degeneration0.40303465
96MP0000747_muscle_weakness0.39774694
97MP0000163_abnormal_cartilage_morphology0.37011069
98MP0000767_abnormal_smooth_muscle0.36540572
99MP0005376_homeostasis/metabolism_phenot0.35788453
100MP0005319_abnormal_enzyme/_coenzyme0.35339620

Predicted human phenotypes

RankGene SetZ-score
1Oligomenorrhea (HP:0000876)8.47043273
2Acanthosis nigricans (HP:0000956)8.07386080
3Hypertriglyceridemia (HP:0002155)7.51026676
4Hyperlipoproteinemia (HP:0010980)5.01361580
5Insulin resistance (HP:0000855)4.85811269
6Insulin-resistant diabetes mellitus (HP:0000831)4.66440230
7Abnormality of aromatic amino acid family metabolism (HP:0004338)4.36938499
8Long foot (HP:0001833)4.12741267
9Abnormal eating behavior (HP:0100738)4.08920394
10Protrusio acetabuli (HP:0003179)3.98867836
11Hemorrhage of the eye (HP:0011885)3.87124643
12Complement deficiency (HP:0004431)3.82224829
13Growth hormone excess (HP:0000845)3.80099360
14Increased variability in muscle fiber diameter (HP:0003557)3.68533059
15Nausea (HP:0002018)3.65992154
16Hypercortisolism (HP:0001578)3.63769710
17Myocardial infarction (HP:0001658)3.63063589
18Epidermoid cyst (HP:0200040)3.62022487
19Pigmentary retinal degeneration (HP:0001146)3.58431345
20Bone cyst (HP:0012062)3.54404729
21Skin nodule (HP:0200036)3.41898715
22Polyphagia (HP:0002591)3.26274324
23Ileus (HP:0002595)3.24712497
24Abnormal hemoglobin (HP:0011902)3.24200649
25Increased serum pyruvate (HP:0003542)3.23660829
26Abnormality of monocarboxylic acid metabolism (HP:0010996)3.22264826
27Vertebral compression fractures (HP:0002953)3.19631192
28Colitis (HP:0002583)3.16912284
29Increased muscle lipid content (HP:0009058)3.16400496
30Back pain (HP:0003418)3.10629418
31Reduced subcutaneous adipose tissue (HP:0003758)3.09418447
32Abnormality of complement system (HP:0005339)3.08995252
33Hypercholesterolemia (HP:0003124)3.03808347
34Xanthomatosis (HP:0000991)3.03783643
35Abnormality of skeletal muscle fiber size (HP:0012084)2.99879891
36Subcapsular cataract (HP:0000523)2.98178077
37Neonatal hypoglycemia (HP:0001998)2.94928520
38Difficulty running (HP:0009046)2.86753891
39Abnormality of glycolysis (HP:0004366)2.85854551
40Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.84079402
41Abnormality of fatty-acid metabolism (HP:0004359)2.81479256
42Prominent supraorbital ridges (HP:0000336)2.79336135
43Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.73480449
44Hypoalphalipoproteinemia (HP:0003233)2.70148217
45Polar cataract (HP:0010696)2.63300735
46Polycythemia (HP:0001901)2.53045580
47Accelerated skeletal maturation (HP:0005616)2.47543647
48Retinal atrophy (HP:0001105)2.41634003
49Hypoglycemic coma (HP:0001325)2.41266178
50Muscle fiber splitting (HP:0003555)2.40289218
51Systemic lupus erythematosus (HP:0002725)2.34467961
52Axonal loss (HP:0003447)2.33855094
53Cervical subluxation (HP:0003308)2.33686133
54Abnormality of alanine metabolism (HP:0010916)2.28950457
55Hyperalaninemia (HP:0003348)2.28950457
56Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.28950457
57Frequent falls (HP:0002359)2.26487265
58Glomerulonephritis (HP:0000099)2.23672004
59Lipoatrophy (HP:0100578)2.21997279
60Amyloidosis (HP:0011034)2.19963441
61Steatorrhea (HP:0002570)2.18274254
62Ectopia lentis (HP:0001083)2.14194127
63Large hands (HP:0001176)2.13412156
64Spinal rigidity (HP:0003306)2.12099630
65Hyperparathyroidism (HP:0000843)2.07703600
66Atrioventricular block (HP:0001678)2.05533225
67Lymphangioma (HP:0100764)2.04324131
68Dicarboxylic aciduria (HP:0003215)2.01915247
69Abnormality of dicarboxylic acid metabolism (HP:0010995)2.01915247
70Joint hemorrhage (HP:0005261)2.01862814
71Pancreatitis (HP:0001733)2.01306711
72Hypophosphatemic rickets (HP:0004912)1.97994206
73Aortic aneurysm (HP:0004942)1.96951061
74Mutism (HP:0002300)1.95455859
75Striae distensae (HP:0001065)1.93196037
76Toxemia of pregnancy (HP:0100603)1.92221220
77Renal Fanconi syndrome (HP:0001994)1.92184245
78Vascular tortuosity (HP:0004948)1.91539078
79Rickets (HP:0002748)1.91353533
80Multiple lipomas (HP:0001012)1.90646930
81Polygenic inheritance (HP:0010982)1.89108193
82Fat malabsorption (HP:0002630)1.88211823
83Rhabdomyolysis (HP:0003201)1.88204398
84Hepatic necrosis (HP:0002605)1.85490028
85Abnormality of carpal bone ossification (HP:0006257)1.81338036
86Gastrointestinal stroma tumor (HP:0100723)1.80471081
87Hyperpituitarism (HP:0010514)1.73728438
88Fused cervical vertebrae (HP:0002949)1.73172981
89Generalized aminoaciduria (HP:0002909)1.73032353
90Gowers sign (HP:0003391)1.71920023
91Metaphyseal dysplasia (HP:0100255)1.71655114
92Decreased activity of mitochondrial respiratory chain (HP:0008972)1.71445427
93Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.71445427
94Abnormal cartilage morphology (HP:0002763)1.68865109
95Shallow orbits (HP:0000586)1.68469242
96Adrenal overactivity (HP:0002717)1.67800577
97Paralysis (HP:0003470)1.67308224
98Neck muscle weakness (HP:0000467)1.66978011
99Exocrine pancreatic insufficiency (HP:0001738)1.66573949
100Neonatal onset (HP:0003623)1.64599605

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB34.64514493
2EPHB23.97126923
3DDR23.84407194
4CAMK1D3.24284727
5TIE13.22903491
6TESK12.76355263
7ARAF2.71478885
8TGFBR22.70955969
9SIK12.62286401
10PRKAA22.50853142
11MYLK2.49764032
12RIPK42.44208062
13RIPK12.42464206
14CAMK1G2.32536015
15CAMK12.31332298
16ABL22.17706822
17LATS22.08268829
18GRK52.05952804
19ERN11.98965958
20CDK61.87116731
21CAMKK21.76795565
22LATS11.76056766
23MAPK41.57217776
24MAP3K131.55316173
25MOS1.37159914
26EEF2K1.36692660
27MAP2K11.34323246
28SCYL21.28083058
29MAP3K91.24539337
30ILK1.18534427
31PRKD31.13141540
32PDPK11.12116955
33AKT31.11242085
34ADRBK11.08883581
35PKN11.08593954
36PDGFRA1.08504270
37PKN21.06787449
38MAP3K61.06422346
39NEK91.04086688
40MAPKAPK31.03170567
41PRKAA10.96511421
42CDK90.96430158
43FER0.95750657
44MAPK120.94685699
45STK380.91250790
46PRKACG0.90203550
47PINK10.88323647
48CSK0.87326988
49YES10.83737515
50CDK40.81144664
51JAK20.80479446
52STK38L0.78419126
53MAPKAPK50.75964983
54GSK3A0.75591660
55TNK20.71128867
56KSR20.69765424
57PDGFRB0.68615151
58PDK10.65331532
59PRKG10.63622441
60CAMKK10.62090060
61IGF1R0.61446811
62LRRK20.59211870
63RET0.59182761
64PDK20.57816805
65GRK10.55343769
66PRPF4B0.55045302
67PAK20.55000385
68FES0.54318739
69WNK40.54033934
70TRPM70.53564540
71BRAF0.52638084
72TYRO30.52125492
73MAPK30.50923663
74CDK50.48534517
75DAPK30.45762251
76KDR0.45347609
77EIF2AK20.43933705
78NLK0.43804901
79PTK20.42903229
80ABL10.41930001
81MAP2K40.40064408
82TYK20.39945362
83BCKDK0.38611266
84PRKACB0.36826873
85RPS6KA30.35726446
86JAK10.35233375
87PRKD10.33292135
88MAP3K110.31562844
89AKT20.30765160
90INSR0.29409129
91SGK4940.29062985
92SGK2230.29062985
93SGK20.28417918
94PRKACA0.27313415
95PIK3CA0.26873531
96SRC0.26189873
97MAPK70.24526983
98CAMK40.24389365
99MTOR0.23663713
100PAK10.22758816

Predicted pathways (KEGG)

RankGene SetZ-score
1Regulation of lipolysis in adipocytes_Homo sapiens_hsa049234.49630908
2PPAR signaling pathway_Homo sapiens_hsa033204.37368481
3Phenylalanine metabolism_Homo sapiens_hsa003603.92675424
4Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010403.84005014
5Fatty acid elongation_Homo sapiens_hsa000623.30660407
6Fatty acid degradation_Homo sapiens_hsa000713.17125823
7Glycerolipid metabolism_Homo sapiens_hsa005613.10108812
8Pyruvate metabolism_Homo sapiens_hsa006202.94562836
9Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.71139896
10Fatty acid metabolism_Homo sapiens_hsa012122.60257144
11Histidine metabolism_Homo sapiens_hsa003402.51593624
12Tyrosine metabolism_Homo sapiens_hsa003502.46939281
13Propanoate metabolism_Homo sapiens_hsa006402.32694792
14Fatty acid biosynthesis_Homo sapiens_hsa000612.31983311
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.30658388
16beta-Alanine metabolism_Homo sapiens_hsa004102.22813879
17Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.20598664
18Tryptophan metabolism_Homo sapiens_hsa003802.19244664
192-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.10697522
20Fat digestion and absorption_Homo sapiens_hsa049751.97039855
21Adipocytokine signaling pathway_Homo sapiens_hsa049201.90591870
22AMPK signaling pathway_Homo sapiens_hsa041521.86760657
23Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.55359102
24Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.46590346
25Butanoate metabolism_Homo sapiens_hsa006501.38272606
26Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.32828261
27Retinol metabolism_Homo sapiens_hsa008301.27419414
28Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.26608790
29Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.19282176
30Renin-angiotensin system_Homo sapiens_hsa046141.16249993
31Carbon metabolism_Homo sapiens_hsa012001.11932025
32Peroxisome_Homo sapiens_hsa041461.06161744
33Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.00161704
34Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.93201548
35Pentose and glucuronate interconversions_Homo sapiens_hsa000400.90477341
36Sulfur metabolism_Homo sapiens_hsa009200.90315392
37Chemical carcinogenesis_Homo sapiens_hsa052040.88777048
38Ovarian steroidogenesis_Homo sapiens_hsa049130.88162387
39Sulfur relay system_Homo sapiens_hsa041220.85803440
40Glycerophospholipid metabolism_Homo sapiens_hsa005640.82083971
41Insulin signaling pathway_Homo sapiens_hsa049100.81959366
42Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.76178406
43Primary bile acid biosynthesis_Homo sapiens_hsa001200.74667069
44Arginine biosynthesis_Homo sapiens_hsa002200.74204173
45Lysine degradation_Homo sapiens_hsa003100.73828637
46Longevity regulating pathway - mammal_Homo sapiens_hsa042110.68519406
47Glutathione metabolism_Homo sapiens_hsa004800.67526498
48Renin secretion_Homo sapiens_hsa049240.66964552
49Arginine and proline metabolism_Homo sapiens_hsa003300.66444749
50Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.65137019
51Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.64806232
52Complement and coagulation cascades_Homo sapiens_hsa046100.63101848
53alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.62851566
54Steroid hormone biosynthesis_Homo sapiens_hsa001400.58074744
55Vitamin digestion and absorption_Homo sapiens_hsa049770.56730681
56Insulin resistance_Homo sapiens_hsa049310.55286951
57Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.54921144
58Vitamin B6 metabolism_Homo sapiens_hsa007500.54340625
59Starch and sucrose metabolism_Homo sapiens_hsa005000.49699932
60Vascular smooth muscle contraction_Homo sapiens_hsa042700.47596253
61Aldosterone synthesis and secretion_Homo sapiens_hsa049250.46866355
62Glucagon signaling pathway_Homo sapiens_hsa049220.46535330
63Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.46518409
64Glycosaminoglycan degradation_Homo sapiens_hsa005310.45209491
65ECM-receptor interaction_Homo sapiens_hsa045120.42305738
66Biosynthesis of amino acids_Homo sapiens_hsa012300.41031624
67Folate biosynthesis_Homo sapiens_hsa007900.35242125
68Type II diabetes mellitus_Homo sapiens_hsa049300.33077956
69Malaria_Homo sapiens_hsa051440.32689627
70Phospholipase D signaling pathway_Homo sapiens_hsa040720.31573618
71Bile secretion_Homo sapiens_hsa049760.30995131
72Cyanoamino acid metabolism_Homo sapiens_hsa004600.29619840
73Arachidonic acid metabolism_Homo sapiens_hsa005900.25386788
74Focal adhesion_Homo sapiens_hsa045100.23729676
75Linoleic acid metabolism_Homo sapiens_hsa005910.23400263
76Acute myeloid leukemia_Homo sapiens_hsa052210.23237198
77Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.20725467
78ABC transporters_Homo sapiens_hsa020100.20303673
79Metabolic pathways_Homo sapiens_hsa011000.19756393
80Staphylococcus aureus infection_Homo sapiens_hsa051500.18225990
81Oxidative phosphorylation_Homo sapiens_hsa001900.15953291
82Thyroid cancer_Homo sapiens_hsa052160.13606876
83cGMP-PKG signaling pathway_Homo sapiens_hsa040220.13071875
84Fructose and mannose metabolism_Homo sapiens_hsa000510.12423353
85cAMP signaling pathway_Homo sapiens_hsa040240.12150120
86Parkinsons disease_Homo sapiens_hsa050120.11924199
87Alzheimers disease_Homo sapiens_hsa050100.08819116
88Prion diseases_Homo sapiens_hsa050200.08193879
89Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.07790525
90Cocaine addiction_Homo sapiens_hsa050300.07218485
91Jak-STAT signaling pathway_Homo sapiens_hsa046300.06421728
92FoxO signaling pathway_Homo sapiens_hsa040680.06298633
93Pentose phosphate pathway_Homo sapiens_hsa000300.06187348
94Drug metabolism - other enzymes_Homo sapiens_hsa009830.04029783
95Caffeine metabolism_Homo sapiens_hsa002320.03233946
96Cysteine and methionine metabolism_Homo sapiens_hsa002700.01965388
97Proteoglycans in cancer_Homo sapiens_hsa052050.01065959
98Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.00637074
99Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860-0.0219661
100Dilated cardiomyopathy_Homo sapiens_hsa05414-0.0152996

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