AKR1C4

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 aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1drug catabolic process (GO:0042737)9.49397097
2epoxygenase P450 pathway (GO:0019373)8.69745617
3omega-hydroxylase P450 pathway (GO:0097267)8.67049579
4regulation of fibrinolysis (GO:0051917)8.49326803
5negative regulation of fibrinolysis (GO:0051918)8.46073754
6glyoxylate metabolic process (GO:0046487)8.09787387
7complement activation, alternative pathway (GO:0006957)7.89531216
8L-phenylalanine catabolic process (GO:0006559)7.84813690
9erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.84813690
10regulation of protein activation cascade (GO:2000257)7.35006068
11erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.19581811
12L-phenylalanine metabolic process (GO:0006558)7.19581811
13regulation of complement activation (GO:0030449)6.88848436
14ethanol oxidation (GO:0006069)6.83376419
15fibrinolysis (GO:0042730)6.81496241
16urea metabolic process (GO:0019627)6.70934859
17cellular glucuronidation (GO:0052695)6.68190766
18drug metabolic process (GO:0017144)6.37636874
19uronic acid metabolic process (GO:0006063)6.36799127
20glucuronate metabolic process (GO:0019585)6.36799127
21peptidyl-glutamic acid carboxylation (GO:0017187)6.36456835
22protein carboxylation (GO:0018214)6.36456835
23oxidative demethylation (GO:0070989)6.34533769
24nitrogen cycle metabolic process (GO:0071941)6.11716052
25blood coagulation, intrinsic pathway (GO:0007597)5.95459821
26aromatic amino acid family catabolic process (GO:0009074)5.79810406
27negative regulation of sterol transport (GO:0032372)5.67916764
28negative regulation of cholesterol transport (GO:0032375)5.67916764
29serine family amino acid catabolic process (GO:0009071)5.59240788
30* bile acid biosynthetic process (GO:0006699)5.55060418
31urea cycle (GO:0000050)5.50088596
32ethanol metabolic process (GO:0006067)5.46906866
33phenylpropanoid metabolic process (GO:0009698)5.35570028
34* bile acid metabolic process (GO:0008206)5.25675522
35regulation of triglyceride catabolic process (GO:0010896)5.20578977
36glycine metabolic process (GO:0006544)5.16627371
37triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.07728755
38regulation of plasminogen activation (GO:0010755)5.04102213
39negative regulation of blood coagulation (GO:0030195)4.96579193
40negative regulation of hemostasis (GO:1900047)4.96579193
41S-adenosylmethionine metabolic process (GO:0046500)4.96288681
42protein activation cascade (GO:0072376)4.90068657
43* bile acid and bile salt transport (GO:0015721)4.65976164
44acylglycerol homeostasis (GO:0055090)4.64474543
45triglyceride homeostasis (GO:0070328)4.64474543
46alkaloid metabolic process (GO:0009820)4.63186177
47amino-acid betaine metabolic process (GO:0006577)4.61844489
48imidazole-containing compound metabolic process (GO:0052803)4.58868422
49tyrosine metabolic process (GO:0006570)4.56791566
50complement activation (GO:0006956)4.54368327
51negative regulation of coagulation (GO:0050819)4.51759506
52fat-soluble vitamin biosynthetic process (GO:0042362)4.47941686
53negative regulation of wound healing (GO:0061045)4.45137075
54complement activation, classical pathway (GO:0006958)4.44607582
55regulation of humoral immune response (GO:0002920)4.35351808
56phospholipid efflux (GO:0033700)4.33192613
57acute-phase response (GO:0006953)4.32213570
58high-density lipoprotein particle remodeling (GO:0034375)4.29242046
59plasma lipoprotein particle remodeling (GO:0034369)4.29181865
60protein-lipid complex remodeling (GO:0034368)4.29181865
61macromolecular complex remodeling (GO:0034367)4.29181865
62positive regulation of blood coagulation (GO:0030194)4.28552345
63positive regulation of hemostasis (GO:1900048)4.28552345
64negative regulation of protein activation cascade (GO:2000258)4.24192096
65hormone catabolic process (GO:0042447)4.18915516
66cholesterol efflux (GO:0033344)4.17958426
67disruption of cells of other organism involved in symbiotic interaction (GO:0051818)4.15416362
68killing of cells in other organism involved in symbiotic interaction (GO:0051883)4.15416362
69negative regulation of lipase activity (GO:0060192)4.13168610
70serine family amino acid metabolic process (GO:0009069)4.12508790
71intestinal cholesterol absorption (GO:0030299)4.06372387
72opsonization (GO:0008228)4.04370813
73cytolysis (GO:0019835)4.01766608
74tryptophan catabolic process (GO:0006569)3.97585264
75indole-containing compound catabolic process (GO:0042436)3.97585264
76indolalkylamine catabolic process (GO:0046218)3.97585264
77positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.96374658
78positive regulation of coagulation (GO:0050820)3.95320856
79glutamate metabolic process (GO:0006536)3.94079034
80regulation of cholesterol esterification (GO:0010872)3.93226261
81positive regulation of lipoprotein lipase activity (GO:0051006)3.91289536
82positive regulation of triglyceride lipase activity (GO:0061365)3.91289536
83heme transport (GO:0015886)3.88633686
84alpha-amino acid catabolic process (GO:1901606)3.87654627
85flavonoid metabolic process (GO:0009812)3.84435067
86response to mercury ion (GO:0046689)3.84184381
87arginine metabolic process (GO:0006525)3.83607111
88reverse cholesterol transport (GO:0043691)3.83218846
89primary alcohol catabolic process (GO:0034310)3.80539607
90aromatic amino acid family metabolic process (GO:0009072)3.79123731
91fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.68641859
92xenobiotic metabolic process (GO:0006805)3.68206917
93sodium-independent organic anion transport (GO:0043252)3.67247592
94very-low-density lipoprotein particle assembly (GO:0034379)3.60968332
95steroid catabolic process (GO:0006706)3.59584266
96cellular ketone body metabolic process (GO:0046950)3.53231906
97serine family amino acid biosynthetic process (GO:0009070)3.47159930
98plasma lipoprotein particle clearance (GO:0034381)3.45943962
99negative regulation of complement activation (GO:0045916)3.40429353
100exogenous drug catabolic process (GO:0042738)10.3975960

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EGR1_23403033_ChIP-Seq_LIVER_Mouse7.05829653
2RXR_22158963_ChIP-Seq_LIVER_Mouse6.95920887
3PPARA_22158963_ChIP-Seq_LIVER_Mouse5.83383470
4LXR_22158963_ChIP-Seq_LIVER_Mouse5.74485534
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.12114308
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.86131591
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.31641975
8CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.30657232
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.02284379
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.28207265
11HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.16960001
12TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.15374094
13* HNF4A_19822575_ChIP-Seq_HepG2_Human2.14321115
14FOXA2_19822575_ChIP-Seq_HepG2_Human2.13322043
15ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.3099609
16HTT_18923047_ChIP-ChIP_STHdh_Human1.89287353
17ESR1_20079471_ChIP-ChIP_T-47D_Human1.56602287
18NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.49440394
19TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.46919700
20AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.23440569
21BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.22201638
22STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.12956408
23STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.08587440
24PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.98763947
25THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.98556151
26BCAT_22108803_ChIP-Seq_LS180_Human0.94580672
27IRF1_19129219_ChIP-ChIP_H3396_Human0.93185294
28* HNFA_21074721_ChIP-Seq_CACO-2_Human0.93183132
29* CBP_21632823_ChIP-Seq_H3396_Human0.92660270
30GATA4_25053715_ChIP-Seq_YYC3_Human0.92400594
31PIAS1_25552417_ChIP-Seq_VCAP_Human0.91758621
32ESR1_15608294_ChIP-ChIP_MCF-7_Human0.90518088
33TRIM28_21343339_ChIP-Seq_HEK293_Human0.90472574
34GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.90357490
35NFE2_27457419_Chip-Seq_LIVER_Mouse0.90094795
36RXRA_24833708_ChIP-Seq_LIVER_Mouse0.89907368
37* CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.89869919
38ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.88469615
39FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.86075645
40* PHF8_20622853_ChIP-Seq_HELA_Human0.85991462
41IRF8_22096565_ChIP-ChIP_GC-B_Human0.85827550
42POU3F2_20337985_ChIP-ChIP_501MEL_Human0.85116852
43FOXA1_25552417_ChIP-Seq_VCAP_Human0.84416490
44FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.83577695
45TP53_18474530_ChIP-ChIP_U2OS_Human0.82884187
46EZH2_27294783_Chip-Seq_NPCs_Mouse0.81499296
47CEBPB_22108803_ChIP-Seq_LS180_Human0.80678429
48AR_20517297_ChIP-Seq_VCAP_Human0.79019591
49Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.78094749
50GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.77943947
51KAP1_22055183_ChIP-Seq_ESCs_Mouse0.77692520
52RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.77161841
53MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.76966303
54* NFYA_21822215_ChIP-Seq_K562_Human0.76674870
55CDX2_20551321_ChIP-Seq_CACO-2_Human0.76281537
56TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.75889046
57GATA6_21074721_ChIP-Seq_CACO-2_Human0.73409825
58SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.73331190
59ER_23166858_ChIP-Seq_MCF-7_Human0.73246080
60SALL4_18804426_ChIP-ChIP_XEN_Mouse0.72626554
61IGF1R_20145208_ChIP-Seq_DFB_Human0.70568220
62IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.70447398
63NRF2_20460467_ChIP-Seq_MEFs_Mouse0.69579148
64NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.69579148
65CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.68492534
66SUZ12_27294783_Chip-Seq_NPCs_Mouse0.68219533
67SOX2_27498859_Chip-Seq_STOMACH_Mouse0.68169497
68CBX2_22325352_ChIP-Seq_293T-Rex_Human0.68012639
69GATA1_22025678_ChIP-Seq_K562_Human0.65493519
70CRX_20693478_ChIP-Seq_RETINA_Mouse0.64732220
71* SOX2_21211035_ChIP-Seq_LN229_Human0.64717288
72SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.64670200
73GATA6_25053715_ChIP-Seq_YYC3_Human0.63885641
74ETV1_20927104_ChIP-Seq_GIST48_Human0.62103914
75CDX2_22108803_ChIP-Seq_LS180_Human0.61383682
76GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.59492078
77OCT4_21477851_ChIP-Seq_ESCs_Mouse0.58711701
78TCF4_18268006_ChIP-ChIP_LS174T_Human0.58286913
79OCT4_18555785_Chip-Seq_ESCs_Mouse0.58190402
80ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.57809505
81AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.57173365
82ETV2_25802403_ChIP-Seq_MESCs_Mouse0.56686230
83* KLF5_20875108_ChIP-Seq_MESCs_Mouse0.55737367
84CDX2_19796622_ChIP-Seq_MESCs_Mouse0.55551076
85PCGF2_27294783_Chip-Seq_NPCs_Mouse0.55475747
86P53_21459846_ChIP-Seq_SAOS-2_Human0.55472270
87ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.55181793
88SMAD1_18555785_Chip-Seq_ESCs_Mouse0.55106122
89SOX2_20726797_ChIP-Seq_SW620_Human0.55028591
90PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.54764613
91CBP_20019798_ChIP-Seq_JUKART_Human0.54407053
92IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.54407053
93ERG_20517297_ChIP-Seq_VCAP_Human0.54217203
94* NFYB_21822215_ChIP-Seq_K562_Human0.53862013
95EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.53859121
96FOXH1_21741376_ChIP-Seq_EPCs_Human0.53651081
97ESRRB_18555785_Chip-Seq_ESCs_Mouse0.53561416
98PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.53220809
99RUNX1_27457419_Chip-Seq_LIVER_Mouse0.52571495
100RAC3_21632823_ChIP-Seq_H3396_Human0.50800209

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005085_abnormal_gallbladder_physiolo6.30878689
2MP0008875_abnormal_xenobiotic_pharmacok5.88991269
3MP0005365_abnormal_bile_salt5.84732514
4MP0005360_urolithiasis5.76946378
5MP0003195_calcinosis4.76828870
6MP0003252_abnormal_bile_duct4.39383995
7MP0002138_abnormal_hepatobiliary_system4.24397631
8MP0003868_abnormal_feces_composition3.34807507
9MP0001666_abnormal_nutrient_absorption3.31808095
10MP0010329_abnormal_lipoprotein_level2.91157352
11MP0009697_abnormal_copulation2.85343758
12MP0003806_abnormal_nucleotide_metabolis2.39811742
13MP0005332_abnormal_amino_acid2.34216455
14MP0003191_abnormal_cellular_cholesterol2.22852441
15MP0009840_abnormal_foam_cell2.12925035
16MP0002139_abnormal_hepatobiliary_system10.4050042
17MP0002876_abnormal_thyroid_physiology1.93257221
18MP0000609_abnormal_liver_physiology1.89792938
19MP0002118_abnormal_lipid_homeostasis1.73154037
20MP0010368_abnormal_lymphatic_system1.57371765
21MP0001764_abnormal_homeostasis1.56414489
22MP0009053_abnormal_anal_canal1.31380859
23MP0005408_hypopigmentation1.28392250
24MP0005319_abnormal_enzyme/_coenzyme1.18333429
25MP0001661_extended_life_span1.18092787
26MP0004019_abnormal_vitamin_homeostasis1.17647572
27MP0003656_abnormal_erythrocyte_physiolo1.14851625
28MP0005670_abnormal_white_adipose1.09105316
29MP0005584_abnormal_enzyme/coenzyme_acti1.07098929
30MP0000598_abnormal_liver_morphology1.05989710
31MP0009643_abnormal_urine_homeostasis0.94602160
32MP0002132_abnormal_respiratory_system0.93852629
33MP0009764_decreased_sensitivity_to0.90719261
34MP0009763_increased_sensitivity_to0.88716482
35MP0003186_abnormal_redox_activity0.86125935
36MP0009642_abnormal_blood_homeostasis0.84696827
37MP0001915_intracranial_hemorrhage0.83903271
38MP0000604_amyloidosis0.81963774
39MP0005376_homeostasis/metabolism_phenot0.80912564
40MP0008469_abnormal_protein_level0.80610090
41MP0005451_abnormal_body_composition0.77692746
42MP0003690_abnormal_glial_cell0.77259410
43MP0005187_abnormal_penis_morphology0.76720935
44MP0003011_delayed_dark_adaptation0.75021362
45MP0002282_abnormal_trachea_morphology0.74080062
46MP0005464_abnormal_platelet_physiology0.73945554
47MP0002971_abnormal_brown_adipose0.71497278
48MP0005636_abnormal_mineral_homeostasis0.71489374
49MP0008872_abnormal_physiological_respon0.66138201
50MP0005395_other_phenotype0.65373870
51MP0005535_abnormal_body_temperature0.64151220
52MP0005266_abnormal_metabolism0.60873098
53MP0003638_abnormal_response/metabolism_0.60194832
54MP0002078_abnormal_glucose_homeostasis0.58274641
55MP0002168_other_aberrant_phenotype0.56156834
56MP0003879_abnormal_hair_cell0.55726593
57MP0008874_decreased_physiological_sensi0.54828788
58MP0005023_abnormal_wound_healing0.54787557
59MP0005334_abnormal_fat_pad0.50928791
60MP0002249_abnormal_larynx_morphology0.49950276
61MP0006036_abnormal_mitochondrial_physio0.48362092
62MP0009785_altered_susceptibility_to0.40926510
63MP0000249_abnormal_blood_vessel0.40879492
64MP0009765_abnormal_xenobiotic_induced0.40363533
65MP0004130_abnormal_muscle_cell0.39962475
66MP0004883_abnormal_blood_vessel0.38979538
67MP0005164_abnormal_response_to0.38884684
68MP0000467_abnormal_esophagus_morphology0.34110539
69MP0005647_abnormal_sex_gland0.33560959
70MP0005448_abnormal_energy_balance0.32432112
71MP0001851_eye_inflammation0.30452738
72MP0003718_maternal_effect0.29900919
73MP0005058_abnormal_lysosome_morphology0.29476140
74MP0005084_abnormal_gallbladder_morpholo0.29225955
75MP0005166_decreased_susceptibility_to0.28476701
76MP0002136_abnormal_kidney_physiology0.27868883
77MP0003959_abnormal_lean_body0.27789495
78MP0003953_abnormal_hormone_level0.26803962
79MP0005220_abnormal_exocrine_pancreas0.26740514
80MP0008873_increased_physiological_sensi0.25889682
81MP0004782_abnormal_surfactant_physiolog0.25593140
82MP0002332_abnormal_exercise_endurance0.25582283
83MP0004142_abnormal_muscle_tone0.24910906
84MP0003075_altered_response_to0.24888112
85MP0002928_abnormal_bile_duct0.23850901
86MP0005197_abnormal_uvea_morphology0.23835544
87MP0009115_abnormal_fat_cell0.23631710
88MP0001845_abnormal_inflammatory_respons0.21422333
89MP0001756_abnormal_urination0.21297218
90MP0001881_abnormal_mammary_gland0.20699012
91MP0003632_abnormal_nervous_system0.20446388
92MP0002128_abnormal_blood_circulation0.20178607
93MP0003633_abnormal_nervous_system0.19804334
94MP0000639_abnormal_adrenal_gland0.19443376
95MP0000566_synostosis0.18687775
96MP0003329_amyloid_beta_deposits0.17791588
97MP0000920_abnormal_myelination0.17374743
98MP0003631_nervous_system_phenotype0.16257324
99MP0006035_abnormal_mitochondrial_morpho0.15397544
100MP0005083_abnormal_biliary_tract0.15326163

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)9.99701212
2Complement deficiency (HP:0004431)9.29417347
3Prolonged partial thromboplastin time (HP:0003645)8.87402068
4Hypobetalipoproteinemia (HP:0003563)8.42047469
5Abnormality of aromatic amino acid family metabolism (HP:0004338)8.25809653
6Abnormality of complement system (HP:0005339)7.53832482
7Conjugated hyperbilirubinemia (HP:0002908)7.46564121
8Joint hemorrhage (HP:0005261)6.22371327
9Systemic lupus erythematosus (HP:0002725)5.91318465
10Hyperlipoproteinemia (HP:0010980)5.73218028
11Intrahepatic cholestasis (HP:0001406)5.49109630
12Glomerulonephritis (HP:0000099)4.95169025
13Xanthomatosis (HP:0000991)4.93572317
14Abnormality of the common coagulation pathway (HP:0010990)4.91527375
15Hypolipoproteinemia (HP:0010981)4.82118403
16Abnormality of pyrimidine metabolism (HP:0004353)4.63136854
17Spontaneous abortion (HP:0005268)4.40095069
18Recurrent gram-negative bacterial infections (HP:0005420)4.29136586
19Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.22757936
20Abnormality of the intrinsic pathway (HP:0010989)4.07002835
21Nephritis (HP:0000123)3.81480773
22Fat malabsorption (HP:0002630)3.76226501
23Abnormality of glutamine family amino acid metabolism (HP:0010902)3.56172389
24Hyperglycinemia (HP:0002154)3.54608941
25Abnormality of methionine metabolism (HP:0010901)3.40298737
26Generalized aminoaciduria (HP:0002909)3.32067092
27Hyperammonemia (HP:0001987)3.24083317
28Gingival bleeding (HP:0000225)3.10994638
29Hypercholesterolemia (HP:0003124)3.07452443
30Hypoalphalipoproteinemia (HP:0003233)3.03977015
31Rickets (HP:0002748)3.00969950
32Abnormality of glycine metabolism (HP:0010895)2.99677034
33Abnormality of serine family amino acid metabolism (HP:0010894)2.99677034
34Steatorrhea (HP:0002570)2.98014019
35Delayed CNS myelination (HP:0002188)2.92551501
36Osteomalacia (HP:0002749)2.92468097
37Vascular calcification (HP:0004934)2.87182566
38Epidermoid cyst (HP:0200040)2.86881297
39Hyperbilirubinemia (HP:0002904)2.79331422
40Mitral stenosis (HP:0001718)2.74234704
41Abnormality of aspartate family amino acid metabolism (HP:0010899)2.73077014
42Hyperglycinuria (HP:0003108)2.72019234
43Hemorrhage of the eye (HP:0011885)2.64968891
44Abnormality of serum amino acid levels (HP:0003112)2.64151653
45Abnormality of nucleobase metabolism (HP:0010932)2.60496665
46Thrombophlebitis (HP:0004418)2.58184419
47Fair hair (HP:0002286)2.56700196
48Cardiovascular calcification (HP:0011915)2.53728902
49Purpura (HP:0000979)2.50092583
50Neonatal hypoglycemia (HP:0001998)2.42238772
51Hepatocellular carcinoma (HP:0001402)2.36640465
52Pulmonary embolism (HP:0002204)2.33991622
53Abnormality of sulfur amino acid metabolism (HP:0004339)2.33652812
54Reduced antithrombin III activity (HP:0001976)2.32317920
55Menorrhagia (HP:0000132)2.29983896
56Hyperphosphaturia (HP:0003109)2.26925887
57Abnormality of vitamin metabolism (HP:0100508)2.18527622
58Cholelithiasis (HP:0001081)2.14853810
59Metabolic acidosis (HP:0001942)2.12402639
60Glycosuria (HP:0003076)2.11083262
61Abnormality of urine glucose concentration (HP:0011016)2.11083262
62Abnormal gallbladder physiology (HP:0012438)2.08510875
63Cholecystitis (HP:0001082)2.08510875
64Abnormal gallbladder morphology (HP:0012437)2.05384853
65Bifid scrotum (HP:0000048)2.02560298
66Abnormality of monocarboxylic acid metabolism (HP:0010996)10.1877255
67Elevated alkaline phosphatase (HP:0003155)1.97917081
68Ketosis (HP:0001946)1.97835400
69Increased mean platelet volume (HP:0011877)1.97287726
70Joint swelling (HP:0001386)1.94834456
71Irritability (HP:0000737)1.93675071
72Arthropathy (HP:0003040)1.93193113
73Poikilocytosis (HP:0004447)1.90407740
74Abnormality of iron homeostasis (HP:0011031)1.89784716
75Hypochromic microcytic anemia (HP:0004840)1.86535407
76Myocardial infarction (HP:0001658)1.86512784
77Abnormality of the Achilles tendon (HP:0005109)1.85698154
78Abnormal enzyme/coenzyme activity (HP:0012379)1.85004490
79Abnormal urine phosphate concentration (HP:0012599)1.79560115
80Abnormal platelet volume (HP:0011876)1.78255007
81Abnormality of alkaline phosphatase activity (HP:0004379)1.78057086
82Generalized hypopigmentation of hair (HP:0011358)1.78056646
83Increased serum ferritin (HP:0003281)1.76866082
84Abnormality of transition element cation homeostasis (HP:0011030)1.75817352
85Hypophosphatemic rickets (HP:0004912)1.75144217
86Skin nodule (HP:0200036)1.73942785
87Epistaxis (HP:0000421)1.69113513
88Abnormality of purine metabolism (HP:0004352)1.67619912
89Gangrene (HP:0100758)1.67446070
90Abnormality of proline metabolism (HP:0010907)1.66096307
91Hydroxyprolinuria (HP:0003080)1.66096307
92Cerebral palsy (HP:0100021)1.64847040
93Abnormal biliary tract physiology (HP:0012439)1.64740896
94Bile duct proliferation (HP:0001408)1.64740896
95Abnormal platelet function (HP:0011869)1.60031069
96Impaired platelet aggregation (HP:0003540)1.60031069
97Lethargy (HP:0001254)1.57889268
98Blue irides (HP:0000635)1.53074818
99Reticulocytosis (HP:0001923)1.51611507
100Hypoglycemic coma (HP:0001325)1.50144557

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PIK3CG5.75746954
2ERN14.26981796
3FGFR43.59670278
4TYK22.67281710
5RIPK12.63610388
6BCKDK2.38825307
7PRKACG2.34465112
8NTRK32.09390063
9PIK3CA2.05982749
10SIK11.92536664
11EPHA31.91058444
12NEK91.90684600
13PRKAA21.88795819
14MAP2K41.84045900
15MAP3K31.76363616
16FGFR31.74042524
17PRPF4B1.68206969
18MST1R1.66818713
19MAP3K121.60506103
20TBK11.53406261
21TRIB31.52308812
22IGF1R1.49747535
23PRKCG1.49723643
24MAPK111.47216255
25FRK1.47054860
26ABL21.45750776
27TAOK31.41310957
28MAP3K21.40897183
29FER1.38254916
30JAK11.34930581
31IRAK31.30502359
32NLK1.29421140
33MYLK1.19800245
34CAMKK21.17698999
35ERBB21.15490134
36TNK21.11690931
37PRKCZ1.08800236
38PINK11.04632754
39PDPK11.03464997
40JAK21.02302770
41PRKG10.98958713
42MAP3K60.94342309
43MAP3K10.93525176
44ERBB40.92201834
45PRKACA0.91440150
46CSF1R0.87726787
47EIF2AK10.86282893
48EPHA40.85916476
49PRKAA10.84515844
50CDK60.83327364
51KSR20.83153657
52AKT30.80731385
53ZAP700.79781334
54SCYL20.79293949
55RET0.77323535
56MET0.75748326
57CSNK1D0.72753993
58INSRR0.72277470
59WNK30.72023080
60PDK10.68439025
61BRSK20.67571817
62PRKCA0.66367458
63PRKCB0.66136489
64MAP3K50.66037398
65ACVR1B0.65822581
66EPHB10.63223074
67TIE10.60183646
68PDK20.58453720
69RPS6KA30.58363764
70PAK30.57340889
71PRKACB0.56675670
72CSNK1E0.56282173
73MAPK70.55018765
74GSK3A0.54555637
75CASK0.54007722
76EIF2AK30.53263061
77MAPK40.52395460
78SGK10.51747961
79MUSK0.51477843
80MAPKAPK30.51251272
81TGFBR20.50956110
82DYRK1B0.49617156
83SGK30.48009936
84SRC0.46574918
85TAOK20.43202323
86BCR0.42406590
87MAP2K30.41157679
88SGK20.40185547
89SGK2230.39635764
90SGK4940.39635764
91DAPK20.39630514
92FGFR20.38129609
93CAMK2G0.37214709
94ICK0.36620037
95GRK10.35805639
96CSNK2A10.35717131
97MAPK120.33281436
98CSNK2A20.32172938
99MAP3K70.30681596
100PRKCE0.30565567

Predicted pathways (KEGG)

RankGene SetZ-score
1Caffeine metabolism_Homo sapiens_hsa002324.78494597
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.16112313
3Complement and coagulation cascades_Homo sapiens_hsa046103.71137458
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.57700426
5* Primary bile acid biosynthesis_Homo sapiens_hsa001203.51105336
6Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.48523859
7Retinol metabolism_Homo sapiens_hsa008303.48363769
8Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.99307979
9Chemical carcinogenesis_Homo sapiens_hsa052042.98611497
10Pentose and glucuronate interconversions_Homo sapiens_hsa000402.78593699
11Drug metabolism - other enzymes_Homo sapiens_hsa009832.73946013
12Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.64942046
13* Steroid hormone biosynthesis_Homo sapiens_hsa001402.54020241
14Fatty acid degradation_Homo sapiens_hsa000712.48900091
15Phenylalanine metabolism_Homo sapiens_hsa003602.35679843
16Arginine biosynthesis_Homo sapiens_hsa002202.32883646
17Tyrosine metabolism_Homo sapiens_hsa003502.23956204
18Butanoate metabolism_Homo sapiens_hsa006502.18734149
19Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.10697811
20Linoleic acid metabolism_Homo sapiens_hsa005911.88490658
21Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.85683362
22Tryptophan metabolism_Homo sapiens_hsa003801.85557961
23Histidine metabolism_Homo sapiens_hsa003401.84256639
24Bile secretion_Homo sapiens_hsa049761.82621552
25Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.60969949
26Starch and sucrose metabolism_Homo sapiens_hsa005001.57163342
27Cyanoamino acid metabolism_Homo sapiens_hsa004601.39548083
28PPAR signaling pathway_Homo sapiens_hsa033201.35263795
29Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.34659597
30beta-Alanine metabolism_Homo sapiens_hsa004101.31555554
31Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.30863299
32Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.30169312
33Vitamin B6 metabolism_Homo sapiens_hsa007501.29850941
34Peroxisome_Homo sapiens_hsa041461.29053366
35Cysteine and methionine metabolism_Homo sapiens_hsa002701.23519889
36Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.23506095
37Staphylococcus aureus infection_Homo sapiens_hsa051501.22370518
38Arachidonic acid metabolism_Homo sapiens_hsa005901.09392585
39Prion diseases_Homo sapiens_hsa050201.06883095
40Pyruvate metabolism_Homo sapiens_hsa006201.05961429
41Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.00995537
42Propanoate metabolism_Homo sapiens_hsa006400.99812076
43Biosynthesis of amino acids_Homo sapiens_hsa012300.99482161
44Arginine and proline metabolism_Homo sapiens_hsa003300.89085238
45Fatty acid metabolism_Homo sapiens_hsa012120.86918351
46Carbon metabolism_Homo sapiens_hsa012000.84380511
47Fat digestion and absorption_Homo sapiens_hsa049750.82881366
48Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.78309163
49ABC transporters_Homo sapiens_hsa020100.77553507
50One carbon pool by folate_Homo sapiens_hsa006700.74211261
512-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.74153744
52Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.73434767
53Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.72027692
54Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.65335545
55Maturity onset diabetes of the young_Homo sapiens_hsa049500.59769533
56Lysine degradation_Homo sapiens_hsa003100.51370280
57* Metabolic pathways_Homo sapiens_hsa011000.41501055
58Sulfur metabolism_Homo sapiens_hsa009200.41421318
59Glycerolipid metabolism_Homo sapiens_hsa005610.30821364
60Sulfur relay system_Homo sapiens_hsa041220.30116382
61Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.28672278
62alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.27220930
63Fatty acid elongation_Homo sapiens_hsa000620.27165888
64Pertussis_Homo sapiens_hsa051330.25455669
65Steroid biosynthesis_Homo sapiens_hsa001000.20223163
66Pentose phosphate pathway_Homo sapiens_hsa000300.18125471
67Fructose and mannose metabolism_Homo sapiens_hsa000510.17714101
68Insulin resistance_Homo sapiens_hsa049310.17180231
69Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.16549219
70Selenocompound metabolism_Homo sapiens_hsa004500.13715918
71Vitamin digestion and absorption_Homo sapiens_hsa049770.09405470
72Glucagon signaling pathway_Homo sapiens_hsa049220.08133496
73Systemic lupus erythematosus_Homo sapiens_hsa053220.07927122
74Glutathione metabolism_Homo sapiens_hsa004800.07157553
75Glycosaminoglycan degradation_Homo sapiens_hsa005310.06398814
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.04497029
77Fatty acid biosynthesis_Homo sapiens_hsa000610.02038586
78Thyroid hormone synthesis_Homo sapiens_hsa04918-0.2846483
79Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.2838779
80N-Glycan biosynthesis_Homo sapiens_hsa00510-0.2468101
81Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.2373912
82Ether lipid metabolism_Homo sapiens_hsa00565-0.2306933
83Circadian rhythm_Homo sapiens_hsa04710-0.2244133
84Type II diabetes mellitus_Homo sapiens_hsa04930-0.2013870
85Sphingolipid metabolism_Homo sapiens_hsa00600-0.1897419
86Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.1879610
87Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1781551
88Insulin signaling pathway_Homo sapiens_hsa04910-0.1756532
89Nitrogen metabolism_Homo sapiens_hsa00910-0.1419058
90African trypanosomiasis_Homo sapiens_hsa05143-0.1365971
91Glycerophospholipid metabolism_Homo sapiens_hsa00564-0.1155233
92Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.1038703
93Other glycan degradation_Homo sapiens_hsa00511-0.0876604
94Amoebiasis_Homo sapiens_hsa05146-0.0765550
95Mineral absorption_Homo sapiens_hsa04978-0.0634302
96Folate biosynthesis_Homo sapiens_hsa00790-0.0396058
97Renin-angiotensin system_Homo sapiens_hsa04614-0.0385462
98AMPK signaling pathway_Homo sapiens_hsa04152-0.0368189
99Serotonergic synapse_Homo sapiens_hsa04726-0.0173702
100Galactose metabolism_Homo sapiens_hsa00052-0.0168757

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