MBL2

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 the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1omega-hydroxylase P450 pathway (GO:0097267)9.30749084
2epoxygenase P450 pathway (GO:0019373)9.16367703
3exogenous drug catabolic process (GO:0042738)9.12401698
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.65396964
5L-phenylalanine catabolic process (GO:0006559)7.65396964
6L-phenylalanine metabolic process (GO:0006558)7.31150909
7erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.31150909
8aromatic amino acid family catabolic process (GO:0009074)6.86020402
9triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.52618306
10tryptophan catabolic process (GO:0006569)6.15728596
11indole-containing compound catabolic process (GO:0042436)6.15728596
12indolalkylamine catabolic process (GO:0046218)6.15728596
13drug metabolic process (GO:0017144)6.14423658
14kynurenine metabolic process (GO:0070189)6.02113799
15bile acid biosynthetic process (GO:0006699)5.94584030
16oxidative demethylation (GO:0070989)5.81632705
17tryptophan metabolic process (GO:0006568)5.80125550
18ethanol metabolic process (GO:0006067)5.76431361
19high-density lipoprotein particle remodeling (GO:0034375)5.73727537
20glyoxylate metabolic process (GO:0046487)5.73228479
21urea metabolic process (GO:0019627)5.72576263
22urea cycle (GO:0000050)5.72576263
23negative regulation of fibrinolysis (GO:0051918)5.65006506
24alpha-linolenic acid metabolic process (GO:0036109)5.63694672
25protein carboxylation (GO:0018214)5.43904449
26peptidyl-glutamic acid carboxylation (GO:0017187)5.43904449
27regulation of fibrinolysis (GO:0051917)5.43062524
28* complement activation (GO:0006956)5.42609579
29cysteine metabolic process (GO:0006534)5.38777581
30sulfur amino acid catabolic process (GO:0000098)5.38459217
31regulation of plasminogen activation (GO:0010755)5.36168664
32negative regulation of protein activation cascade (GO:2000258)5.31681812
33regulation of humoral immune response (GO:0002920)5.30972496
34complement activation, alternative pathway (GO:0006957)5.29529424
35nitrogen cycle metabolic process (GO:0071941)5.26486854
36* complement activation, classical pathway (GO:0006958)5.25609826
37regulation of protein activation cascade (GO:2000257)5.23989971
38serine family amino acid catabolic process (GO:0009071)5.17412175
39bile acid metabolic process (GO:0008206)5.12726740
40positive regulation of heterotypic cell-cell adhesion (GO:0034116)5.05100720
41regulation of cholesterol esterification (GO:0010872)5.04080685
42aromatic amino acid family metabolic process (GO:0009072)4.98484426
43reverse cholesterol transport (GO:0043691)4.96772536
44regulation of triglyceride catabolic process (GO:0010896)4.90235540
45regulation of complement activation (GO:0030449)4.87753245
46protein-lipid complex remodeling (GO:0034368)4.87483156
47macromolecular complex remodeling (GO:0034367)4.87483156
48plasma lipoprotein particle remodeling (GO:0034369)4.87483156
49tyrosine metabolic process (GO:0006570)4.85405976
50* acute-phase response (GO:0006953)4.82785135
51fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.78252120
52homocysteine metabolic process (GO:0050667)4.73386992
53negative regulation of cholesterol transport (GO:0032375)4.72695612
54negative regulation of sterol transport (GO:0032372)4.72695612
55phospholipid efflux (GO:0033700)4.71494183
56acylglycerol homeostasis (GO:0055090)4.70060533
57triglyceride homeostasis (GO:0070328)4.70060533
58alpha-amino acid catabolic process (GO:1901606)4.67334345
59negative regulation of blood coagulation (GO:0030195)4.65986001
60negative regulation of hemostasis (GO:1900047)4.65986001
61amino-acid betaine metabolic process (GO:0006577)4.59309164
62phenylpropanoid metabolic process (GO:0009698)4.55780363
63lysine catabolic process (GO:0006554)4.55208943
64lysine metabolic process (GO:0006553)4.55208943
65cellular ketone body metabolic process (GO:0046950)4.52814263
66imidazole-containing compound metabolic process (GO:0052803)4.48305765
67bile acid and bile salt transport (GO:0015721)4.47565020
68S-adenosylmethionine metabolic process (GO:0046500)4.46898002
69plasma lipoprotein particle clearance (GO:0034381)4.45823406
70glycine metabolic process (GO:0006544)4.44873779
71coenzyme catabolic process (GO:0009109)4.38991162
72indolalkylamine metabolic process (GO:0006586)4.36500775
73cellular glucuronidation (GO:0052695)4.35077923
74cholesterol efflux (GO:0033344)4.31040153
75cellular amino acid catabolic process (GO:0009063)4.28989824
76amine catabolic process (GO:0009310)4.28291755
77cellular biogenic amine catabolic process (GO:0042402)4.28291755
78glutamate metabolic process (GO:0006536)4.24607138
79negative regulation of coagulation (GO:0050819)4.23305974
80negative regulation of complement activation (GO:0045916)4.22369786
81negative regulation of wound healing (GO:0061045)4.21634570
82serine family amino acid metabolic process (GO:0009069)4.18736927
83benzene-containing compound metabolic process (GO:0042537)4.15726943
84ethanol oxidation (GO:0006069)4.11749238
85low-density lipoprotein particle remodeling (GO:0034374)4.10670332
86positive regulation of blood coagulation (GO:0030194)4.10146082
87positive regulation of hemostasis (GO:1900048)4.10146082
88drug catabolic process (GO:0042737)4.09099460
89arginine metabolic process (GO:0006525)4.07798601
90plasma lipoprotein particle assembly (GO:0034377)4.06845714
91cellular modified amino acid catabolic process (GO:0042219)4.03834891
92serine family amino acid biosynthetic process (GO:0009070)4.02691155
93fibrinolysis (GO:0042730)4.02412669
94dicarboxylic acid biosynthetic process (GO:0043650)4.01881540
95aldehyde catabolic process (GO:0046185)4.01055149
96regulation of apoptotic cell clearance (GO:2000425)3.93137054
97intestinal cholesterol absorption (GO:0030299)3.93123142
98ketone body metabolic process (GO:1902224)3.91917358
99* opsonization (GO:0008228)3.88903403
100regulation of bile acid biosynthetic process (GO:0070857)3.86013266
101glucuronate metabolic process (GO:0019585)3.85535535
102uronic acid metabolic process (GO:0006063)3.85535535
103positive regulation of lipoprotein lipase activity (GO:0051006)3.85294139
104positive regulation of triglyceride lipase activity (GO:0061365)3.85294139
105blood coagulation, intrinsic pathway (GO:0007597)3.85190325
106negative regulation of lipase activity (GO:0060192)3.83285467
107cofactor catabolic process (GO:0051187)3.81483600
108very-low-density lipoprotein particle assembly (GO:0034379)3.81409142
109positive regulation of lipid catabolic process (GO:0050996)3.79471630
110cholesterol homeostasis (GO:0042632)3.78620230
111positive regulation of coagulation (GO:0050820)3.75877377
112carboxylic acid catabolic process (GO:0046395)3.75183976
113organic acid catabolic process (GO:0016054)3.75183976
114alkaloid metabolic process (GO:0009820)3.75147092
115phospholipid homeostasis (GO:0055091)3.72628323
116sterol homeostasis (GO:0055092)3.72367712
117regulation of acute inflammatory response (GO:0002673)3.71338997
118short-chain fatty acid metabolic process (GO:0046459)3.69624563
119plasma lipoprotein particle organization (GO:0071827)3.68405269
120hormone catabolic process (GO:0042447)3.67938127
121protein-lipid complex assembly (GO:0065005)3.65254633
122acetyl-CoA metabolic process (GO:0006084)3.64238814
123regulation of cholesterol homeostasis (GO:2000188)3.60065030
124flavonoid metabolic process (GO:0009812)3.59983233
125* protein activation cascade (GO:0072376)3.59493002
126NAD biosynthetic process (GO:0009435)3.59128911
127positive regulation of fatty acid biosynthetic process (GO:0045723)3.56742634
128nicotinamide nucleotide biosynthetic process (GO:0019359)3.56527862
129pyridine nucleotide biosynthetic process (GO:0019363)3.56527862
130cytolysis (GO:0019835)3.54508710
131* acute inflammatory response (GO:0002526)3.53383817
132response to mercury ion (GO:0046689)3.50986428
133* killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.42041640
134* disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.42041640
135sodium-independent organic anion transport (GO:0043252)3.41680986

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.40881176
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse7.18412825
3EGR1_23403033_ChIP-Seq_LIVER_Mouse7.08116728
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.51962647
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.26704740
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.13995305
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.83111885
8CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.04705749
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.02528934
10* TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.00519379
11ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.9759656
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.97051831
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.93727018
14HTT_18923047_ChIP-ChIP_STHdh_Human1.60195247
15* FOXA2_19822575_ChIP-Seq_HepG2_Human1.58663052
16CLOCK_20551151_ChIP-Seq_293T_Human1.51550118
17* HNF4A_19822575_ChIP-Seq_HepG2_Human1.40155412
18GATA1_22025678_ChIP-Seq_K562_Human1.31336113
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.28999917
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.23376140
21RXRA_24833708_ChIP-Seq_LIVER_Mouse1.21203441
22STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.17552178
23TRIM28_21343339_ChIP-Seq_HEK293_Human1.16924193
24STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.15785874
25IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.04424506
26ESR1_15608294_ChIP-ChIP_MCF-7_Human1.03637512
27ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.02919653
28PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.97998424
29MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.97607961
30TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.93271231
31SOX2_27498859_Chip-Seq_STOMACH_Mouse0.91660571
32AUTS2_25519132_ChIP-Seq_293T-REX_Human0.87533429
33KAP1_22055183_ChIP-Seq_ESCs_Mouse0.86684422
34PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.86614112
35IRF8_22096565_ChIP-ChIP_GC-B_Human0.82726800
36ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.81220428
37GATA4_25053715_ChIP-Seq_YYC3_Human0.80860245
38FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.79239406
39RARG_19884340_ChIP-ChIP_MEFs_Mouse0.79092067
40ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.78633402
41SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.76130156
42BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.75435998
43NFE2_27457419_Chip-Seq_LIVER_Mouse0.75007283
44RARA_24833708_ChIP-Seq_LIVER_Mouse0.74364232
45SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.72816422
46Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.71626153
47NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.71476163
48ZNF263_19887448_ChIP-Seq_K562_Human0.70927481
49CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.69942923
50IRF1_19129219_ChIP-ChIP_H3396_Human0.69941534
51TCF4_18268006_ChIP-ChIP_LS174T_Human0.69304210
52SALL4_18804426_ChIP-ChIP_XEN_Mouse0.67504666
53* CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.67329177
54AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.66691698
55* HNFA_21074721_ChIP-Seq_CACO-2_Human0.66160277
56RARB_24833708_ChIP-Seq_LIVER_Mouse0.64654987
57NRF2_20460467_ChIP-Seq_MEFs_Mouse0.64190609
58NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.64190609
59ESR2_21235772_ChIP-Seq_MCF-7_Human0.63801539
60SOX2_21211035_ChIP-Seq_LN229_Human0.63793580
61CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.63227203
62RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.62962250
63* BCAT_22108803_ChIP-Seq_LS180_Human0.62506198
64EZH2_27294783_Chip-Seq_NPCs_Mouse0.62235649
65RAD21_21589869_ChIP-Seq_MESCs_Mouse0.62018906
66BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.61007523
67E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.60506201
68NFYA_21822215_ChIP-Seq_K562_Human0.60304788
69NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.60228311
70POU3F2_20337985_ChIP-ChIP_501MEL_Human0.59410840
71* PHF8_20622853_ChIP-Seq_HELA_Human0.59220250
72CBX2_22325352_ChIP-Seq_293T-Rex_Human0.59021981
73CEBPB_22108803_ChIP-Seq_LS180_Human0.58832417
74NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.58456479
75RAC3_21632823_ChIP-Seq_H3396_Human0.57523485
76ETV2_25802403_ChIP-Seq_MESCs_Mouse0.57137085
77PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.54095024
78* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.53778515
79SPI1_20517297_ChIP-Seq_HL60_Human0.53741576
80FOXA1_25552417_ChIP-Seq_VCAP_Human0.53280627
81MYC_19829295_ChIP-Seq_ESCs_Human0.53107721
82ETV1_20927104_ChIP-Seq_GIST48_Human0.52710066
83POU5F1_16518401_ChIP-PET_MESCs_Mouse0.52335530
84STAT1_17558387_ChIP-Seq_HELA_Human0.52289391
85SUZ12_27294783_Chip-Seq_NPCs_Mouse0.52234991
86ESET_19884257_ChIP-Seq_ESCs_Mouse0.52180683
87FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.52141956
88MYC_19915707_ChIP-ChIP_AK7_Human0.52107062
89SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.51598795
90AR_20517297_ChIP-Seq_VCAP_Human0.51302562
91* TP53_18474530_ChIP-ChIP_U2OS_Human0.51284614
92OCT4_18555785_Chip-Seq_ESCs_Mouse0.50801940
93* GATA6_21074721_ChIP-Seq_CACO-2_Human0.50389860
94EGR1_19032775_ChIP-ChIP_M12_Human0.50280318
95CRX_20693478_ChIP-Seq_RETINA_Mouse0.50011202
96* PIAS1_25552417_ChIP-Seq_VCAP_Human0.49885891
97LXR_22292898_ChIP-Seq_THP-1_Human0.49525116
98FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.49427795
99CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.48875027
100SMC4_20622854_ChIP-Seq_HELA_Human0.48465089
101GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.48076538
102P53_21459846_ChIP-Seq_SAOS-2_Human0.47946277
103ESRRB_18555785_Chip-Seq_ESCs_Mouse0.47693597
104STAT3_1855785_ChIP-Seq_MESCs_Mouse0.47442003
105SMAD1_18555785_Chip-Seq_ESCs_Mouse0.47327894
106DNAJC2_21179169_ChIP-ChIP_NT2_Human0.47300938
107PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.47120054
108PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.46208570
109ER_23166858_ChIP-Seq_MCF-7_Human0.45807552
110TAF15_26573619_Chip-Seq_HEK293_Human0.45659966
111* CBP_21632823_ChIP-Seq_H3396_Human0.45416533
112RUNX1_27457419_Chip-Seq_LIVER_Mouse0.45298700
113P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.45239141
114PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.44078728
115PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.42811355
116CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.42701183
117GATA1_19941826_ChIP-Seq_K562_Human0.42319490
118ESR1_21235772_ChIP-Seq_MCF-7_Human0.41586471
119TAF2_19829295_ChIP-Seq_ESCs_Human0.41374856
120FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.40609775
121SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.40533455
122GATA1_19941827_ChIP-Seq_MEL_Mouse0.40431444
123CDX2_20551321_ChIP-Seq_CACO-2_Human0.40407413
124ERG_21242973_ChIP-ChIP_JURKAT_Human0.40129166
125FOXO3_23340844_ChIP-Seq_DLD1_Human0.39882762
126GATA2_19941826_ChIP-Seq_K562_Human0.39647943
127STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.39327409
128ESR1_20079471_ChIP-ChIP_T-47D_Human0.38885603
129MYC_27129775_Chip-Seq_CORNEA_Mouse0.38684729
130PPAR_26484153_Chip-Seq_NCI-H1993_Human0.38684224
131GATA6_25053715_ChIP-Seq_YYC3_Human0.38573499
132LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.38511812
133SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.38377956
134SPI1_26923725_Chip-Seq_HPCs_Mouse0.36829124
135NCOR_22424771_ChIP-Seq_293T_Human0.35301463
136FOXH1_21741376_ChIP-Seq_EPCs_Human0.35227091
137ERG_20517297_ChIP-Seq_VCAP_Human0.35096919
138CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.34983504
139OCT4_20526341_ChIP-Seq_ESCs_Human0.34306056
140* CDX2_22108803_ChIP-Seq_LS180_Human0.33623872
141SOX3_22085726_ChIP-Seq_MUSCLE_Mouse0.33395375

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.41632794
2MP0005360_urolithiasis7.60404487
3MP0005085_abnormal_gallbladder_physiolo6.43226928
4MP0005365_abnormal_bile_salt6.13442507
5MP0008875_abnormal_xenobiotic_pharmacok5.24181684
6MP0003806_abnormal_nucleotide_metabolis4.28405788
7MP0003252_abnormal_bile_duct3.89086065
8MP0010329_abnormal_lipoprotein_level3.59462009
9MP0009840_abnormal_foam_cell3.38648820
10MP0005083_abnormal_biliary_tract3.05154998
11MP0003195_calcinosis2.84949694
12MP0005332_abnormal_amino_acid2.74033816
13MP0001666_abnormal_nutrient_absorption2.57824046
14MP0003191_abnormal_cellular_cholesterol2.27378357
15MP0000609_abnormal_liver_physiology2.15260831
16MP0004019_abnormal_vitamin_homeostasis2.13145509
17MP0002118_abnormal_lipid_homeostasis2.10002536
18MP0002138_abnormal_hepatobiliary_system1.95570220
19MP0003868_abnormal_feces_composition1.92086351
20MP0005319_abnormal_enzyme/_coenzyme1.81444497
21MP0001764_abnormal_homeostasis1.66169316
22MP0009697_abnormal_copulation1.64832515
23MP0005584_abnormal_enzyme/coenzyme_acti1.55080535
24MP0005451_abnormal_body_composition1.53521733
25MP0002132_abnormal_respiratory_system1.38158988
26MP0003011_delayed_dark_adaptation1.35553513
27MP0003186_abnormal_redox_activity1.26032028
28MP0003656_abnormal_erythrocyte_physiolo1.23491493
29MP0009643_abnormal_urine_homeostasis1.21573271
30MP0005647_abnormal_sex_gland1.20871683
31MP0000598_abnormal_liver_morphology1.16356335
32MP0003705_abnormal_hypodermis_morpholog1.12186759
33MP0000604_amyloidosis1.09278821
34MP0009764_decreased_sensitivity_to1.05489640
35MP0009763_increased_sensitivity_to1.01960967
36MP0002254_reproductive_system_inflammat1.01764378
37MP0001915_intracranial_hemorrhage0.99467475
38MP0002282_abnormal_trachea_morphology0.94948193
39MP0010368_abnormal_lymphatic_system0.93880205
40MP0005636_abnormal_mineral_homeostasis0.89778385
41MP0008469_abnormal_protein_level0.87637154
42MP0009642_abnormal_blood_homeostasis0.86454993
43MP0005408_hypopigmentation0.85563517
44MP0002876_abnormal_thyroid_physiology0.83555809
45MP0006036_abnormal_mitochondrial_physio0.81863297
46MP0009765_abnormal_xenobiotic_induced0.79043100
47MP0005376_homeostasis/metabolism_phenot0.78913474
48MP0002078_abnormal_glucose_homeostasis0.77538915
49MP0005670_abnormal_white_adipose0.74060348
50MP0002971_abnormal_brown_adipose0.73144491
51MP0005084_abnormal_gallbladder_morpholo0.72550368
52MP0005220_abnormal_exocrine_pancreas0.70344389
53MP0005334_abnormal_fat_pad0.69489984
54MP0005187_abnormal_penis_morphology0.68167894
55MP0001661_extended_life_span0.66478479
56MP0003690_abnormal_glial_cell0.66437056
57MP0002249_abnormal_larynx_morphology0.66333429
58MP0005535_abnormal_body_temperature0.64736107
59MP0009053_abnormal_anal_canal0.64656080
60MP0005266_abnormal_metabolism0.64546507
61MP0004130_abnormal_muscle_cell0.64040150
62MP0003329_amyloid_beta_deposits0.63894642
63MP0000639_abnormal_adrenal_gland0.62029339
64MP0003879_abnormal_hair_cell0.61559941
65MP0009785_altered_susceptibility_to0.57737281
66MP0003718_maternal_effect0.57716928
67MP0005023_abnormal_wound_healing0.57494344
68MP0001756_abnormal_urination0.56841095
69MP0005448_abnormal_energy_balance0.56704607
70MP0000566_synostosis0.53582796
71MP0006035_abnormal_mitochondrial_morpho0.53353743
72MP0005395_other_phenotype0.53342392
73MP0005464_abnormal_platelet_physiology0.53258748
74MP0002822_catalepsy0.51475308
75MP0008874_decreased_physiological_sensi0.47275322
76MP0003638_abnormal_response/metabolism_0.47107427
77MP0004782_abnormal_surfactant_physiolog0.45297454
78MP0008873_increased_physiological_sensi0.45192173
79MP0002928_abnormal_bile_duct0.44325481
80MP0002136_abnormal_kidney_physiology0.43560743
81MP0002837_dystrophic_cardiac_calcinosis0.41615953
82MP0003953_abnormal_hormone_level0.41163179
83MP0005248_abnormal_Harderian_gland0.40839942
84MP0003436_decreased_susceptibility_to0.40422090
85MP0003075_altered_response_to0.39853289
86MP0003724_increased_susceptibility_to0.39169951
87MP0008872_abnormal_physiological_respon0.38940379
88MP0009672_abnormal_birth_weight0.36732045
89MP0005058_abnormal_lysosome_morphology0.35805120
90MP0005166_decreased_susceptibility_to0.34925794
91MP0002332_abnormal_exercise_endurance0.34573420
92MP0000579_abnormal_nail_morphology0.34542750
93MP0006082_CNS_inflammation0.34185073
94MP0009115_abnormal_fat_cell0.33963414
95MP0005666_abnormal_adipose_tissue0.33638964
96MP0000249_abnormal_blood_vessel0.32288330
97MP0002089_abnormal_postnatal_growth/wei0.31821990
98MP0001243_abnormal_dermal_layer0.31208703
99MP0002168_other_aberrant_phenotype0.31079469
100MP0002970_abnormal_white_adipose0.30942147
101MP0004883_abnormal_blood_vessel0.30493950
102MP0002796_impaired_skin_barrier0.29774156
103MP0000230_abnormal_systemic_arterial0.29484878
104MP0004381_abnormal_hair_follicle0.29037301
105MP0000467_abnormal_esophagus_morphology0.28793030
106MP0001853_heart_inflammation0.28478328
107MP0005397_hematopoietic_system_phenotyp0.28377751
108MP0001545_abnormal_hematopoietic_system0.28377751
109MP0001881_abnormal_mammary_gland0.27668089
110MP0001845_abnormal_inflammatory_respons0.27206969
111MP0002128_abnormal_blood_circulation0.26775834
112MP0009384_cardiac_valve_regurgitation0.25424208
113MP0001851_eye_inflammation0.23581870
114MP0005164_abnormal_response_to0.23434239
115MP0002090_abnormal_vision0.23204238
116MP0002060_abnormal_skin_morphology0.21975065
117MP0003632_abnormal_nervous_system0.21644195
118MP0003633_abnormal_nervous_system0.21264916
119MP0004272_abnormal_basement_membrane0.20937484
120MP0002135_abnormal_kidney_morphology0.20842830
121MP0000920_abnormal_myelination0.19754227
122MP0006292_abnormal_olfactory_placode0.19548364

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.56195116
2Abnormality of aromatic amino acid family metabolism (HP:0004338)7.50168558
3Intrahepatic cholestasis (HP:0001406)7.29577028
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.71232747
5Prolonged partial thromboplastin time (HP:0003645)6.60854375
6Hypobetalipoproteinemia (HP:0003563)6.60772995
7Xanthomatosis (HP:0000991)6.28149198
8Hyperlipoproteinemia (HP:0010980)5.74273009
9Complement deficiency (HP:0004431)5.19358790
10Hypolipoproteinemia (HP:0010981)4.88451036
11Joint hemorrhage (HP:0005261)4.84179052
12Hyperammonemia (HP:0001987)4.62478457
13Epidermoid cyst (HP:0200040)4.48460913
14Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.46498581
15Abnormality of the common coagulation pathway (HP:0010990)4.44835696
16Hyperglycinemia (HP:0002154)4.42829561
17Abnormality of methionine metabolism (HP:0010901)4.30947372
18Abnormality of sulfur amino acid metabolism (HP:0004339)4.26215077
19Ketosis (HP:0001946)4.24695414
20Hypoalphalipoproteinemia (HP:0003233)4.22590370
21Abnormality of aspartate family amino acid metabolism (HP:0010899)4.16855845
22Abnormality of glutamine family amino acid metabolism (HP:0010902)4.14914364
23Fat malabsorption (HP:0002630)4.12342526
24Hyperglycinuria (HP:0003108)3.92893745
25Abnormality of glycine metabolism (HP:0010895)3.91382416
26Abnormality of serine family amino acid metabolism (HP:0010894)3.91382416
27Abnormality of pyrimidine metabolism (HP:0004353)3.87256229
28Hypoglycemic coma (HP:0001325)3.84627291
29Abnormality of the intrinsic pathway (HP:0010989)3.78655986
30Abnormality of complement system (HP:0005339)3.78483109
31Conjugated hyperbilirubinemia (HP:0002908)3.73464048
32Hypercholesterolemia (HP:0003124)3.67445953
33Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.40681421
34Hyperbilirubinemia (HP:0002904)3.36974022
35Abnormality of fatty-acid metabolism (HP:0004359)3.34733007
36Delayed CNS myelination (HP:0002188)3.13055511
37Steatorrhea (HP:0002570)3.11227467
38Abnormality of serum amino acid levels (HP:0003112)3.10045660
39Abnormality of nucleobase metabolism (HP:0010932)3.06674886
40Spontaneous abortion (HP:0005268)3.00337352
41Ketoacidosis (HP:0001993)3.00116484
42Hepatocellular carcinoma (HP:0001402)2.95614777
43Hypochromic microcytic anemia (HP:0004840)2.95074645
44Myocardial infarction (HP:0001658)2.92268560
45Metabolic acidosis (HP:0001942)2.76519402
46Skin nodule (HP:0200036)2.74625861
47Neonatal hypoglycemia (HP:0001998)2.73590386
48Fair hair (HP:0002286)2.71472389
49Abnormality of purine metabolism (HP:0004352)2.66384215
50Systemic lupus erythematosus (HP:0002725)2.63907679
51Lethargy (HP:0001254)2.61066514
52Vascular calcification (HP:0004934)2.60540282
53Osteomalacia (HP:0002749)2.59158757
54Dicarboxylic aciduria (HP:0003215)2.58734580
55Abnormality of dicarboxylic acid metabolism (HP:0010995)2.58734580
56Acanthocytosis (HP:0001927)2.56579775
57Purpura (HP:0000979)2.53836978
58Abnormal gallbladder morphology (HP:0012437)2.50726209
59Glomerulonephritis (HP:0000099)2.47406016
60Hypoglycemic seizures (HP:0002173)2.45355043
61Spastic diplegia (HP:0001264)2.44551061
62Cholelithiasis (HP:0001081)2.43656308
63Cerebral edema (HP:0002181)2.41364636
64Mitral stenosis (HP:0001718)2.40698718
65Abnormal gallbladder physiology (HP:0012438)2.39473849
66Cholecystitis (HP:0001082)2.39473849
67Gout (HP:0001997)2.36287849
68Irritability (HP:0000737)2.35641970
69Malnutrition (HP:0004395)2.33118596
70Neonatal onset (HP:0003623)2.31971921
71Pulmonary embolism (HP:0002204)2.30950692
72Cardiovascular calcification (HP:0011915)2.30793632
73Amyloidosis (HP:0011034)2.30192536
74Recurrent gram-negative bacterial infections (HP:0005420)2.23587866
75Esophageal varix (HP:0002040)2.21139245
76Gingival bleeding (HP:0000225)2.19520344
77Menorrhagia (HP:0000132)2.17514516
78Brushfield spots (HP:0001088)2.15219070
79Pancreatitis (HP:0001733)2.11951330
80Late onset (HP:0003584)2.11885688
81Enlarged kidneys (HP:0000105)2.11575715
82Sensorimotor neuropathy (HP:0007141)2.10989227
83Joint swelling (HP:0001386)2.10785363
84Poikilocytosis (HP:0004447)2.07566417
85Thrombophlebitis (HP:0004418)2.07164926
86Vomiting (HP:0002013)2.05633123
87Abnormality of the gallbladder (HP:0005264)2.02140243
88Opisthotonus (HP:0002179)2.02024261
89Generalized aminoaciduria (HP:0002909)2.00997756
90Hyperinsulinemic hypoglycemia (HP:0000825)1.98706367
91Hemorrhage of the eye (HP:0011885)1.98284822
92Arthropathy (HP:0003040)1.95662558
93Elevated alkaline phosphatase (HP:0003155)1.94628235
94Rickets (HP:0002748)1.91651107
95Epistaxis (HP:0000421)1.90679305
96Increased serum ferritin (HP:0003281)1.89915843
97Abnormality of iron homeostasis (HP:0011031)1.89855482
98Generalized hypopigmentation of hair (HP:0011358)1.87968793
99Abnormality of proline metabolism (HP:0010907)1.86905836
100Hydroxyprolinuria (HP:0003080)1.86905836
101Abnormal cartilage morphology (HP:0002763)1.86895794
102Abnormality of transition element cation homeostasis (HP:0011030)1.86699551
103Renal cortical cysts (HP:0000803)1.86140008
104Hypophosphatemic rickets (HP:0004912)1.86010465
105Reduced antithrombin III activity (HP:0001976)1.82513559
106Alkalosis (HP:0001948)1.82323850
107Elevated hepatic transaminases (HP:0002910)1.78656250
108Abnormal enzyme/coenzyme activity (HP:0012379)1.78305416
109Status epilepticus (HP:0002133)1.78229459
110Abnormality of alkaline phosphatase activity (HP:0004379)1.78022561
111Hyperglycemia (HP:0003074)1.77696969
112Abnormality of vitamin metabolism (HP:0100508)1.76358187
113Nephritis (HP:0000123)1.75677311
114Blue irides (HP:0000635)1.72698028
115Abnormality of the Achilles tendon (HP:0005109)1.72131577
116Hyperphosphaturia (HP:0003109)1.71238967
117Abnormal delivery (HP:0001787)1.70247113
118Gangrene (HP:0100758)1.67745696
119Cerebral palsy (HP:0100021)1.63776221
120Increased serum pyruvate (HP:0003542)1.62603580
121Increased mean platelet volume (HP:0011877)1.62336354
122Abnormality of urine glucose concentration (HP:0011016)1.52002195
123Glycosuria (HP:0003076)1.52002195
124Bifid scrotum (HP:0000048)1.49029029
125Abnormal platelet volume (HP:0011876)1.45735141
126Impaired platelet aggregation (HP:0003540)1.42949814
127Abnormal platelet function (HP:0011869)1.42949814
128Bile duct proliferation (HP:0001408)1.41666675
129Abnormal biliary tract physiology (HP:0012439)1.41666675

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.26432399
2SIK14.61817650
3FGFR44.57669709
4ERN14.30491733
5TAOK33.24384136
6PIK3CA2.93448516
7ERBB42.87965832
8INSRR2.82364193
9MAP2K42.36650543
10PKN22.34140371
11MST1R2.07610681
12FLT31.95547458
13LATS11.82787813
14NTRK31.81959511
15PIK3CG1.81350171
16MAPK111.81183617
17TRIB31.76323492
18TYK21.72335670
19DAPK21.57234583
20AKT31.56524135
21ABL21.53291412
22NEK91.45159530
23FRK1.41428549
24PTK61.41195743
25FGFR21.35955004
26PINK11.31597265
27KDR1.30556226
28NLK1.29639642
29JAK21.20919505
30MAP3K71.15424655
31PRKAA21.13759402
32GRK61.06442753
33TBK11.03509839
34MAP3K21.03303541
35STK38L1.03293168
36MAP3K141.03211692
37MAP2K31.00953812
38FER0.98839115
39PRKG10.98416591
40JAK10.97321263
41MAPK40.97125879
42PRPF4B0.96185452
43PRKCZ0.93599197
44ERBB20.92259259
45PDGFRA0.89193806
46TNK20.87354608
47CAMKK20.87102803
48MAP3K100.86850182
49CDK120.86013336
50MAPK150.84543948
51MAP3K30.80888605
52DYRK1B0.80565915
53CDK60.79838810
54MET0.79349503
55MAPK120.78083786
56EPHB10.77525135
57TIE10.76114301
58MAP3K110.75587246
59FGFR10.74823201
60PRKACG0.74761231
61PDK20.74206219
62EPHA30.72808930
63PRKACA0.72629202
64CSNK1E0.72227707
65CAMK2G0.69849853
66CSK0.69637564
67MAP2K60.69005800
68SGK10.67978281
69MAP3K60.66306120
70PRKAA10.66100960
71BRSK20.65865251
72GSK3A0.64633556
73CAMK1D0.61831443
74SGK30.61319811
75CSNK1D0.57892012
76IKBKE0.57759694
77PRKACB0.57629803
78RPS6KA30.57346652
79PRKCQ0.56566757
80CSNK1G10.55469059
81RIPK10.55424507
82MAPK70.54985532
83PTK20.53891879
84FGFR30.53699709
85EPHA40.53258412
86IRAK30.52981688
87CSF1R0.52857864
88KSR20.52532603
89PRKCB0.52294085
90SRC0.51209551
91TGFBR20.50606689
92MAP3K130.50476952
93ZAP700.50025165
94PDPK10.48642401
95SGK20.46705199
96RET0.45936827
97LATS20.45154462
98TAOK20.45016387
99MAP3K50.44670063
100CAMKK10.44381972
101WNK40.44340291
102GRK10.42535292
103MAP2K10.42512876
104CSNK2A10.42420850
105SIK20.42230556
106IGF1R0.42196638
107MAPKAPK30.40729859
108CDK40.40611294
109PRKCG0.39571633
110CSNK2A20.36758861
111STK380.35818307
112CSNK1G20.35118477
113SCYL20.33994859
114RPS6KB10.33901556
115MAPK30.33864408
116EEF2K0.33269391
117BLK0.33267715
118PBK0.32878067
119CSNK1G30.32876517
120MTOR0.32340976
121SGK4940.31897795
122SGK2230.31897795
123ICK0.31461388
124EGFR0.30802719
125PDK10.29744845
126CAMK40.28748437
127PKN10.26470889
128PRKCA0.25885990
129MAP3K10.23132294
130CSNK1A1L0.21879689
131ABL10.21359835
132PAK30.20871624
133IRAK20.20008309
134MAP2K20.19634000
135IRAK10.18740840
136PDK40.18283140
137PDK30.18283140

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.48369682
2Nitrogen metabolism_Homo sapiens_hsa009103.57012095
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.45799561
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.37580603
5Arginine biosynthesis_Homo sapiens_hsa002203.07033036
6Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.74325976
7Tryptophan metabolism_Homo sapiens_hsa003802.68014034
8* Complement and coagulation cascades_Homo sapiens_hsa046102.67141988
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.61865047
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.51794626
11Fatty acid degradation_Homo sapiens_hsa000712.45969603
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.36191848
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.30464547
14Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.20685584
15Butanoate metabolism_Homo sapiens_hsa006502.13108523
16Peroxisome_Homo sapiens_hsa041462.06305987
17Chemical carcinogenesis_Homo sapiens_hsa052042.01710091
18Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.99829594
19Steroid hormone biosynthesis_Homo sapiens_hsa001401.99569442
20Histidine metabolism_Homo sapiens_hsa003401.95338476
21Propanoate metabolism_Homo sapiens_hsa006401.90934240
22PPAR signaling pathway_Homo sapiens_hsa033201.85476000
23Drug metabolism - other enzymes_Homo sapiens_hsa009831.82336484
24Fatty acid metabolism_Homo sapiens_hsa012121.79334127
25Caffeine metabolism_Homo sapiens_hsa002321.79087689
26Retinol metabolism_Homo sapiens_hsa008301.75616472
27Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.74273302
28beta-Alanine metabolism_Homo sapiens_hsa004101.70640390
29Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.66092480
30Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.61542983
31Selenocompound metabolism_Homo sapiens_hsa004501.58898600
32Phenylalanine metabolism_Homo sapiens_hsa003601.56671238
33* Staphylococcus aureus infection_Homo sapiens_hsa051501.56477826
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.51834089
35Bile secretion_Homo sapiens_hsa049761.51124271
362-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.48107917
37Tyrosine metabolism_Homo sapiens_hsa003501.44155613
38Sulfur metabolism_Homo sapiens_hsa009201.36737031
39Pyruvate metabolism_Homo sapiens_hsa006201.36295187
40Fatty acid elongation_Homo sapiens_hsa000621.31920212
41Cysteine and methionine metabolism_Homo sapiens_hsa002701.31745693
42Starch and sucrose metabolism_Homo sapiens_hsa005001.29399503
43Folate biosynthesis_Homo sapiens_hsa007901.22493125
44Steroid biosynthesis_Homo sapiens_hsa001001.22044697
45ABC transporters_Homo sapiens_hsa020101.20118115
46Biosynthesis of amino acids_Homo sapiens_hsa012301.19253050
47Fat digestion and absorption_Homo sapiens_hsa049751.18653480
48Carbon metabolism_Homo sapiens_hsa012001.10804965
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.03889914
50Cyanoamino acid metabolism_Homo sapiens_hsa004601.02848005
51Maturity onset diabetes of the young_Homo sapiens_hsa049501.00295949
52Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.99381350
53Arginine and proline metabolism_Homo sapiens_hsa003300.97260638
54Sulfur relay system_Homo sapiens_hsa041220.93407074
55Vitamin B6 metabolism_Homo sapiens_hsa007500.91847540
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.86432197
57Vitamin digestion and absorption_Homo sapiens_hsa049770.86397621
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.82977743
59Lysine degradation_Homo sapiens_hsa003100.78786320
60One carbon pool by folate_Homo sapiens_hsa006700.75084290
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.69497480
62Glycerolipid metabolism_Homo sapiens_hsa005610.67904566
63Glutathione metabolism_Homo sapiens_hsa004800.65518947
64Pentose phosphate pathway_Homo sapiens_hsa000300.57068366
65Fatty acid biosynthesis_Homo sapiens_hsa000610.53872095
66Metabolic pathways_Homo sapiens_hsa011000.46097273
67Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.45135756
68Pertussis_Homo sapiens_hsa051330.44873905
69Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.40511632
70Prion diseases_Homo sapiens_hsa050200.31898205
71alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.29315128
72Linoleic acid metabolism_Homo sapiens_hsa005910.27825677
73Galactose metabolism_Homo sapiens_hsa000520.24419440
74Fructose and mannose metabolism_Homo sapiens_hsa000510.21826399
75Insulin resistance_Homo sapiens_hsa049310.21684691
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.20292340
77Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.20117241
78Glycerophospholipid metabolism_Homo sapiens_hsa005640.17489986
79Glucagon signaling pathway_Homo sapiens_hsa049220.08648736
80Other glycan degradation_Homo sapiens_hsa005110.02621772
81AMPK signaling pathway_Homo sapiens_hsa041520.00801053
82FoxO signaling pathway_Homo sapiens_hsa04068-0.2586009
83Type II diabetes mellitus_Homo sapiens_hsa04930-0.2547294
84Amoebiasis_Homo sapiens_hsa05146-0.2517866
85Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.2365161
86Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2338387
87Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2309005
88Sphingolipid metabolism_Homo sapiens_hsa00600-0.2274521
89Ether lipid metabolism_Homo sapiens_hsa00565-0.2187137
90Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.2177478
91N-Glycan biosynthesis_Homo sapiens_hsa00510-0.2108435
92Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2055261
93Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.2035960
94Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1946136
95Hepatitis C_Homo sapiens_hsa05160-0.1939593
96Circadian rhythm_Homo sapiens_hsa04710-0.1874248
97Renin-angiotensin system_Homo sapiens_hsa04614-0.1832670
98Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1686630
99Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1679542
100Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1664478
101Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1521399
102African trypanosomiasis_Homo sapiens_hsa05143-0.1454491
103Regulation of autophagy_Homo sapiens_hsa04140-0.1293957
104Insulin signaling pathway_Homo sapiens_hsa04910-0.1087842
105Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0903478
106Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0777470
107Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0522572
108Mineral absorption_Homo sapiens_hsa04978-0.0416308
109Serotonergic synapse_Homo sapiens_hsa04726-0.0413980
110Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0349740

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