HSD17B6

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: The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1omega-hydroxylase P450 pathway (GO:0097267)8.42921166
2L-phenylalanine catabolic process (GO:0006559)7.58403565
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.58403565
4L-phenylalanine metabolic process (GO:0006558)7.24231299
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.24231299
6aromatic amino acid family catabolic process (GO:0009074)6.81420431
7triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.51881135
8oxidative demethylation (GO:0070989)6.20797233
9indole-containing compound catabolic process (GO:0042436)6.13858477
10indolalkylamine catabolic process (GO:0046218)6.13858477
11tryptophan catabolic process (GO:0006569)6.13858477
12kynurenine metabolic process (GO:0070189)6.02413460
13bile acid biosynthetic process (GO:0006699)5.92476749
14tryptophan metabolic process (GO:0006568)5.79035043
15glyoxylate metabolic process (GO:0046487)5.71825596
16high-density lipoprotein particle remodeling (GO:0034375)5.67742387
17phenylpropanoid metabolic process (GO:0009698)5.65555693
18urea cycle (GO:0000050)5.62748384
19urea metabolic process (GO:0019627)5.62748384
20alpha-linolenic acid metabolic process (GO:0036109)5.58642668
21negative regulation of fibrinolysis (GO:0051918)5.55085915
22regulation of fibrinolysis (GO:0051917)5.39523446
23cysteine metabolic process (GO:0006534)5.37351369
24ethanol metabolic process (GO:0006067)5.36380492
25peptidyl-glutamic acid carboxylation (GO:0017187)5.36206586
26protein carboxylation (GO:0018214)5.36206586
27sulfur amino acid catabolic process (GO:0000098)5.31573193
28complement activation, alternative pathway (GO:0006957)5.22680686
29regulation of plasminogen activation (GO:0010755)5.20214081
30regulation of protein activation cascade (GO:2000257)5.19209397
31nitrogen cycle metabolic process (GO:0071941)5.17369838
32serine family amino acid catabolic process (GO:0009071)5.12969078
33bile acid metabolic process (GO:0008206)5.12580024
34regulation of cholesterol esterification (GO:0010872)4.98631244
35aromatic amino acid family metabolic process (GO:0009072)4.96719151
36negative regulation of protein activation cascade (GO:2000258)4.95002857
37reverse cholesterol transport (GO:0043691)4.92299994
38regulation of triglyceride catabolic process (GO:0010896)4.87519865
39plasma lipoprotein particle remodeling (GO:0034369)4.84569871
40protein-lipid complex remodeling (GO:0034368)4.84569871
41macromolecular complex remodeling (GO:0034367)4.84569871
42regulation of complement activation (GO:0030449)4.84471652
43fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.82688619
44negative regulation of blood coagulation (GO:0030195)4.81129296
45negative regulation of hemostasis (GO:1900047)4.81129296
46tyrosine metabolic process (GO:0006570)4.81096522
47regulation of humoral immune response (GO:0002920)4.80534982
48homocysteine metabolic process (GO:0050667)4.77350433
49negative regulation of sterol transport (GO:0032372)4.76585510
50negative regulation of cholesterol transport (GO:0032375)4.76585510
51phospholipid efflux (GO:0033700)4.67429348
52triglyceride homeostasis (GO:0070328)4.66848865
53acylglycerol homeostasis (GO:0055090)4.66848865
54acute-phase response (GO:0006953)4.66653470
55alpha-amino acid catabolic process (GO:1901606)4.64040265
56amino-acid betaine metabolic process (GO:0006577)4.60931987
57lysine metabolic process (GO:0006553)4.56322777
58lysine catabolic process (GO:0006554)4.56322777
59S-adenosylmethionine metabolic process (GO:0046500)4.54650721
60cellular ketone body metabolic process (GO:0046950)4.51779919
61cellular glucuronidation (GO:0052695)4.48536665
62bile acid and bile salt transport (GO:0015721)4.44480556
63opsonization (GO:0008228)4.44068487
64glycine metabolic process (GO:0006544)4.43205093
65alkaloid metabolic process (GO:0009820)4.42226458
66plasma lipoprotein particle clearance (GO:0034381)4.40737637
67negative regulation of wound healing (GO:0061045)4.38114724
68imidazole-containing compound metabolic process (GO:0052803)4.37707535
69negative regulation of coagulation (GO:0050819)4.37251046
70drug catabolic process (GO:0042737)4.36237696
71indolalkylamine metabolic process (GO:0006586)4.35424931
72coenzyme catabolic process (GO:0009109)4.34138463
73cholesterol efflux (GO:0033344)4.33593404
74cellular amino acid catabolic process (GO:0009063)4.26141501
75amine catabolic process (GO:0009310)4.25418193
76cellular biogenic amine catabolic process (GO:0042402)4.25418193
77negative regulation of complement activation (GO:0045916)4.23575843
78glutamate metabolic process (GO:0006536)4.21882483
79cytolysis (GO:0019835)4.20231721
80serine family amino acid metabolic process (GO:0009069)4.17587958
81benzene-containing compound metabolic process (GO:0042537)4.16374610
82low-density lipoprotein particle remodeling (GO:0034374)4.11732420
83positive regulation of blood coagulation (GO:0030194)4.09649073
84positive regulation of hemostasis (GO:1900048)4.09649073
85plasma lipoprotein particle assembly (GO:0034377)4.05383104
86ethanol oxidation (GO:0006069)4.02498920
87serine family amino acid biosynthetic process (GO:0009070)4.02477350
88arginine metabolic process (GO:0006525)4.00577616
89cellular modified amino acid catabolic process (GO:0042219)4.00005917
90aldehyde catabolic process (GO:0046185)3.99287406
91uronic acid metabolic process (GO:0006063)3.98484609
92glucuronate metabolic process (GO:0019585)3.98484609
93dicarboxylic acid biosynthetic process (GO:0043650)3.96009139
94fibrinolysis (GO:0042730)3.94705698
95disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.92650922
96killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.92650922
97epoxygenase P450 pathway (GO:0019373)3.91519015
98ketone body metabolic process (GO:1902224)3.90976341
99regulation of bile acid biosynthetic process (GO:0070857)3.86791197
100very-low-density lipoprotein particle assembly (GO:0034379)3.86643573
101positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.86514083
102exogenous drug catabolic process (GO:0042738)3.85265720
103positive regulation of lipoprotein lipase activity (GO:0051006)3.85046446
104positive regulation of triglyceride lipase activity (GO:0061365)3.85046446
105blood coagulation, intrinsic pathway (GO:0007597)3.81652567
106cholesterol homeostasis (GO:0042632)3.80585756
107negative regulation of lipase activity (GO:0060192)3.79786147
108positive regulation of lipid catabolic process (GO:0050996)3.79556522
109flavonoid metabolic process (GO:0009812)3.78081490
110positive regulation of coagulation (GO:0050820)3.77291856
111cofactor catabolic process (GO:0051187)3.76144272
112heme transport (GO:0015886)3.74946383
113carboxylic acid catabolic process (GO:0046395)3.74148858
114organic acid catabolic process (GO:0016054)3.74148858
115sterol homeostasis (GO:0055092)3.74140970
116phospholipid homeostasis (GO:0055091)3.73567928
117complement activation, classical pathway (GO:0006958)3.71672809
118drug metabolic process (GO:0017144)3.69381078
119complement activation (GO:0006956)3.68137647
120plasma lipoprotein particle organization (GO:0071827)3.67777696
121protein activation cascade (GO:0072376)3.67096499
122regulation of cholesterol homeostasis (GO:2000188)3.65631951
123protein-lipid complex assembly (GO:0065005)3.63028180
124short-chain fatty acid metabolic process (GO:0046459)3.62783199
125xenobiotic metabolic process (GO:0006805)3.58923492
126acute inflammatory response (GO:0002526)3.57624862
127response to mercury ion (GO:0046689)3.46681281
128regulation of lipoprotein particle clearance (GO:0010984)3.46043812
129regulation of acute inflammatory response (GO:0002673)3.40572735
130intestinal cholesterol absorption (GO:0030299)3.37622599

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.41814606
2PPARA_22158963_ChIP-Seq_LIVER_Mouse7.22782011
3EGR1_23403033_ChIP-Seq_LIVER_Mouse7.07176379
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.50919489
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.31337818
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.09661765
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.81073200
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.00501402
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.99344844
10TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.06108797
11ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.9317553
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.99124731
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.92648421
14HTT_18923047_ChIP-ChIP_STHdh_Human1.59887766
15FOXA2_19822575_ChIP-Seq_HepG2_Human1.59345419
16CLOCK_20551151_ChIP-Seq_293T_Human1.51924040
17HNF4A_19822575_ChIP-Seq_HepG2_Human1.41462965
18GATA1_22025678_ChIP-Seq_K562_Human1.39881449
19TRIM28_21343339_ChIP-Seq_HEK293_Human1.33911326
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.24935170
21STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.23617768
22MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.21694834
23RXRA_24833708_ChIP-Seq_LIVER_Mouse1.21025260
24STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.09751108
25ESR1_15608294_ChIP-ChIP_MCF-7_Human1.07376267
26IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.06359114
27ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.01392735
28TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.98455413
29* CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.97694202
30SOX2_27498859_Chip-Seq_STOMACH_Mouse0.96539069
31HNFA_21074721_ChIP-Seq_CACO-2_Human0.96537092
32PHF8_20622853_ChIP-Seq_HELA_Human0.92860849
33GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.92484240
34PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.90863130
35NFE2_27457419_Chip-Seq_LIVER_Mouse0.89042569
36PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.86186114
37IRF1_19129219_ChIP-ChIP_H3396_Human0.85603504
38GATA6_21074721_ChIP-Seq_CACO-2_Human0.84226073
39KAP1_22055183_ChIP-Seq_ESCs_Mouse0.83756748
40AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83489857
41RARG_19884340_ChIP-ChIP_MEFs_Mouse0.83027760
42* GATA4_25053715_ChIP-Seq_YYC3_Human0.82828511
43NFYA_21822215_ChIP-Seq_K562_Human0.79813940
44IRF8_22096565_ChIP-ChIP_GC-B_Human0.78818165
45ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.78103432
46ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.76023678
47SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.75690595
48EZH2_27294783_Chip-Seq_NPCs_Mouse0.75647476
49RARA_24833708_ChIP-Seq_LIVER_Mouse0.75400134
50BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.74622491
51SOX2_21211035_ChIP-Seq_LN229_Human0.74468193
52SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.73743575
53Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.72605455
54SALL4_18804426_ChIP-ChIP_XEN_Mouse0.70708192
55CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.69442876
56ESR2_21235772_ChIP-Seq_MCF-7_Human0.69351555
57ZNF263_19887448_ChIP-Seq_K562_Human0.68750572
58TP53_18474530_ChIP-ChIP_U2OS_Human0.67712314
59FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.67596276
60CBX2_22325352_ChIP-Seq_293T-Rex_Human0.67561432
61NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.65375610
62RARB_24833708_ChIP-Seq_LIVER_Mouse0.65202734
63* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.64757822
64BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.64554897
65RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.64470832
66NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.63955316
67NRF2_20460467_ChIP-Seq_MEFs_Mouse0.63955316
68NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.63897925
69ETV1_20927104_ChIP-Seq_GIST48_Human0.63038471
70GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.62212827
71E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.61947916
72RAD21_21589869_ChIP-Seq_MESCs_Mouse0.61217992
73NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.60937577
74SUZ12_27294783_Chip-Seq_NPCs_Mouse0.60887504
75ER_23166858_ChIP-Seq_MCF-7_Human0.58840283
76CEBPB_22108803_ChIP-Seq_LS180_Human0.58064064
77RAC3_21632823_ChIP-Seq_H3396_Human0.57917416
78EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.57025137
79PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.56808648
80SOX2_20726797_ChIP-Seq_SW620_Human0.56272145
81CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.56270144
82NFYB_21822215_ChIP-Seq_K562_Human0.55044406
83TCF4_18268006_ChIP-ChIP_LS174T_Human0.54379006
84EGR1_19032775_ChIP-ChIP_M12_Human0.54242779
85SRY_22984422_ChIP-ChIP_TESTIS_Rat0.53790085
86* CRX_20693478_ChIP-Seq_RETINA_Mouse0.53429510
87SPI1_20517297_ChIP-Seq_HL60_Human0.53414778
88FOXA1_25552417_ChIP-Seq_VCAP_Human0.53342378
89RBPJ_21746931_ChIP-Seq_IB4_Human0.53341237
90* PIAS1_25552417_ChIP-Seq_VCAP_Human0.53010877
91MYC_19915707_ChIP-ChIP_AK7_Human0.52989563
92RUNX1_27457419_Chip-Seq_LIVER_Mouse0.52856557
93PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.52703612
94STAT3_1855785_ChIP-Seq_MESCs_Mouse0.51736137
95STAT1_17558387_ChIP-Seq_HELA_Human0.51707491
96OCT4_18555785_Chip-Seq_ESCs_Mouse0.51635490
97ESRRB_18555785_Chip-Seq_ESCs_Mouse0.51373005
98AR_20517297_ChIP-Seq_VCAP_Human0.51294886
99ESET_19884257_ChIP-Seq_ESCs_Mouse0.50836797
100LXR_22292898_ChIP-Seq_THP-1_Human0.50441650
101SMAD1_18555785_Chip-Seq_ESCs_Mouse0.50377135
102* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.50330933
103FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.50232315
104PCGF2_27294783_Chip-Seq_NPCs_Mouse0.50112779
105CDX2_20551321_ChIP-Seq_CACO-2_Human0.49357876
106ESR1_21235772_ChIP-Seq_MCF-7_Human0.48981895
107ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.48589482
108SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.47726280
109KLF5_20875108_ChIP-Seq_MESCs_Mouse0.47654228
110MYC_19829295_ChIP-Seq_ESCs_Human0.47053362
111TAF15_26573619_Chip-Seq_HEK293_Human0.46871616
112PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.46698945
113P53_21459846_ChIP-Seq_SAOS-2_Human0.46343447
114* CBP_21632823_ChIP-Seq_H3396_Human0.45377275
115PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.44981504
116PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.43132251
117PPAR_26484153_Chip-Seq_NCI-H1993_Human0.42848971
118ERG_21242973_ChIP-ChIP_JURKAT_Human0.41867571
119FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.41415579
120TAF2_19829295_ChIP-Seq_ESCs_Human0.41373091
121* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.41116191
122GATA6_25053715_ChIP-Seq_YYC3_Human0.41093276
123FOXO3_23340844_ChIP-Seq_DLD1_Human0.41014297
124SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.40129679
125GATA1_19941826_ChIP-Seq_K562_Human0.39169737
126BCAT_22108803_ChIP-Seq_LS180_Human0.38625352
127GATA1_19941827_ChIP-Seq_MEL_Mouse0.38503011
128GATA2_19941826_ChIP-Seq_K562_Human0.37715076
129MYC_27129775_Chip-Seq_CORNEA_Mouse0.37609015
130* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.37338639
131STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.37163930
132ESR1_20079471_ChIP-ChIP_T-47D_Human0.37074192
133GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.35786725
134* LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.35723111
135CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.35665927
136SPI1_26923725_Chip-Seq_HPCs_Mouse0.34950718
137NCOR_22424771_ChIP-Seq_293T_Human0.34700491
138FOXH1_21741376_ChIP-Seq_EPCs_Human0.34123521
139GATA3_24758297_ChIP-Seq_MCF-7_Human0.34110201
140CDX2_22108803_ChIP-Seq_LS180_Human0.33443062

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.40421030
2MP0005360_urolithiasis7.59893260
3MP0005085_abnormal_gallbladder_physiolo6.44908060
4MP0005365_abnormal_bile_salt6.10000654
5MP0008875_abnormal_xenobiotic_pharmacok5.43393120
6MP0003806_abnormal_nucleotide_metabolis4.27226002
7MP0003252_abnormal_bile_duct3.88596379
8MP0010329_abnormal_lipoprotein_level3.59954964
9MP0009840_abnormal_foam_cell3.37702959
10MP0005083_abnormal_biliary_tract3.00139313
11MP0003195_calcinosis2.92876760
12MP0005332_abnormal_amino_acid2.72601047
13MP0001666_abnormal_nutrient_absorption2.65502975
14MP0003191_abnormal_cellular_cholesterol2.21241482
15MP0004019_abnormal_vitamin_homeostasis2.18481976
16MP0000609_abnormal_liver_physiology2.14448504
17MP0002118_abnormal_lipid_homeostasis2.08493250
18MP0002138_abnormal_hepatobiliary_system1.88043640
19MP0003868_abnormal_feces_composition1.84100962
20MP0005319_abnormal_enzyme/_coenzyme1.82216554
21MP0001764_abnormal_homeostasis1.67916104
22MP0009697_abnormal_copulation1.61814703
23MP0005584_abnormal_enzyme/coenzyme_acti1.54433144
24MP0005451_abnormal_body_composition1.53772411
25MP0003011_delayed_dark_adaptation1.27744332
26MP0003186_abnormal_redox_activity1.26842171
27MP0003656_abnormal_erythrocyte_physiolo1.24032076
28MP0009643_abnormal_urine_homeostasis1.21875235
29MP0000598_abnormal_liver_morphology1.15735030
30MP0003705_abnormal_hypodermis_morpholog1.13118514
31MP0005647_abnormal_sex_gland1.11432308
32MP0009764_decreased_sensitivity_to1.07566649
33MP0000604_amyloidosis1.04459208
34MP0005187_abnormal_penis_morphology1.02106185
35MP0002254_reproductive_system_inflammat1.02060245
36MP0009763_increased_sensitivity_to1.00133511
37MP0010368_abnormal_lymphatic_system0.93076565
38MP0005636_abnormal_mineral_homeostasis0.88948967
39MP0008469_abnormal_protein_level0.87189361
40MP0009642_abnormal_blood_homeostasis0.85829490
41MP0005408_hypopigmentation0.85391160
42MP0001915_intracranial_hemorrhage0.84896994
43MP0006036_abnormal_mitochondrial_physio0.80632917
44MP0009765_abnormal_xenobiotic_induced0.79185165
45MP0002876_abnormal_thyroid_physiology0.79110173
46MP0005376_homeostasis/metabolism_phenot0.79097254
47MP0002078_abnormal_glucose_homeostasis0.76073506
48MP0005084_abnormal_gallbladder_morpholo0.75291197
49MP0005670_abnormal_white_adipose0.74916430
50MP0002971_abnormal_brown_adipose0.70157114
51MP0003690_abnormal_glial_cell0.68695577
52MP0009053_abnormal_anal_canal0.68170453
53MP0002282_abnormal_trachea_morphology0.67648187
54MP0005334_abnormal_fat_pad0.67249454
55MP0004130_abnormal_muscle_cell0.67160186
56MP0005535_abnormal_body_temperature0.66969062
57MP0005266_abnormal_metabolism0.66008056
58MP0005220_abnormal_exocrine_pancreas0.65453225
59MP0001661_extended_life_span0.65231810
60MP0003879_abnormal_hair_cell0.61773582
61MP0003329_amyloid_beta_deposits0.60620709
62MP0001756_abnormal_urination0.59353713
63MP0000639_abnormal_adrenal_gland0.58068012
64MP0006035_abnormal_mitochondrial_morpho0.55763545
65MP0004782_abnormal_surfactant_physiolog0.55583929
66MP0005448_abnormal_energy_balance0.55065051
67MP0002249_abnormal_larynx_morphology0.54532004
68MP0003718_maternal_effect0.52433894
69MP0002822_catalepsy0.52418548
70MP0005395_other_phenotype0.49710597
71MP0005464_abnormal_platelet_physiology0.49286874
72MP0008874_decreased_physiological_sensi0.48999913
73MP0005023_abnormal_wound_healing0.48186593
74MP0008872_abnormal_physiological_respon0.47784691
75MP0003638_abnormal_response/metabolism_0.46314830
76MP0005058_abnormal_lysosome_morphology0.44830522
77MP0002136_abnormal_kidney_physiology0.44703342
78MP0008873_increased_physiological_sensi0.44630734
79MP0009785_altered_susceptibility_to0.42150981
80MP0002928_abnormal_bile_duct0.41024863
81MP0005248_abnormal_Harderian_gland0.40672851
82MP0003953_abnormal_hormone_level0.40385585
83MP0003724_increased_susceptibility_to0.39907286
84MP0002837_dystrophic_cardiac_calcinosis0.39260945
85MP0003075_altered_response_to0.39165172
86MP0003436_decreased_susceptibility_to0.39096165
87MP0005166_decreased_susceptibility_to0.37259218
88MP0009672_abnormal_birth_weight0.36196514
89MP0004381_abnormal_hair_follicle0.34788472
90MP0005666_abnormal_adipose_tissue0.34695643
91MP0006082_CNS_inflammation0.34103326
92MP0000579_abnormal_nail_morphology0.33020672
93MP0009115_abnormal_fat_cell0.32675771
94MP0010386_abnormal_urinary_bladder0.32330084
95MP0000249_abnormal_blood_vessel0.31281456
96MP0002796_impaired_skin_barrier0.30577809
97MP0002168_other_aberrant_phenotype0.30220127
98MP0001243_abnormal_dermal_layer0.30212262
99MP0000230_abnormal_systemic_arterial0.30193101
100MP0004883_abnormal_blood_vessel0.29967045
101MP0009384_cardiac_valve_regurgitation0.28145461
102MP0002970_abnormal_white_adipose0.28103595
103MP0000467_abnormal_esophagus_morphology0.28013029
104MP0001853_heart_inflammation0.27372005
105MP0002332_abnormal_exercise_endurance0.26638699
106MP0000566_synostosis0.26527275
107MP0001881_abnormal_mammary_gland0.26508187
108MP0001845_abnormal_inflammatory_respons0.26076142
109MP0002132_abnormal_respiratory_system0.25944960
110MP0001986_abnormal_taste_sensitivity0.23774599
111MP0001851_eye_inflammation0.23480222
112MP0002090_abnormal_vision0.23419808
113MP0004272_abnormal_basement_membrane0.23411156
114MP0002060_abnormal_skin_morphology0.22612512
115MP0005164_abnormal_response_to0.22189516
116MP0005197_abnormal_uvea_morphology0.21973850
117MP0003959_abnormal_lean_body0.21239707
118MP0002128_abnormal_blood_circulation0.18390289
119MP0002089_abnormal_postnatal_growth/wei0.17664879
120MP0002295_abnormal_pulmonary_circulatio0.17611480
121MP0000920_abnormal_myelination0.16798853
122MP0001440_abnormal_grooming_behavior0.15420796

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.49569698
2Abnormality of aromatic amino acid family metabolism (HP:0004338)7.48016195
3Intrahepatic cholestasis (HP:0001406)7.32054441
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.71252712
5Hypobetalipoproteinemia (HP:0003563)6.64564626
6Prolonged partial thromboplastin time (HP:0003645)6.63401261
7Xanthomatosis (HP:0000991)6.32389834
8Hyperlipoproteinemia (HP:0010980)5.74161552
9Complement deficiency (HP:0004431)5.20164919
10Hypolipoproteinemia (HP:0010981)4.91551076
11Joint hemorrhage (HP:0005261)4.78672591
12Hyperammonemia (HP:0001987)4.60615685
13Epidermoid cyst (HP:0200040)4.51828838
14Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.49101160
15Hyperglycinemia (HP:0002154)4.44301980
16Abnormality of the common coagulation pathway (HP:0010990)4.39190965
17Hypoalphalipoproteinemia (HP:0003233)4.25295842
18Abnormality of methionine metabolism (HP:0010901)4.25070632
19Ketosis (HP:0001946)4.24438052
20Abnormality of sulfur amino acid metabolism (HP:0004339)4.21440218
21Fat malabsorption (HP:0002630)4.18574037
22Abnormality of glutamine family amino acid metabolism (HP:0010902)4.13888419
23Abnormality of aspartate family amino acid metabolism (HP:0010899)4.09772289
24Hyperglycinuria (HP:0003108)3.98619661
25Abnormality of serine family amino acid metabolism (HP:0010894)3.94788452
26Abnormality of glycine metabolism (HP:0010895)3.94788452
27Nephritis (HP:0000123)3.85749077
28Conjugated hyperbilirubinemia (HP:0002908)3.85354489
29Hypoglycemic coma (HP:0001325)3.84984767
30Abnormality of pyrimidine metabolism (HP:0004353)3.83587828
31Abnormality of complement system (HP:0005339)3.79762695
32Abnormality of the intrinsic pathway (HP:0010989)3.77448032
33Hypercholesterolemia (HP:0003124)3.73968567
34Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.37503432
35Abnormality of fatty-acid metabolism (HP:0004359)3.35991471
36Hyperbilirubinemia (HP:0002904)3.34385238
37Delayed CNS myelination (HP:0002188)3.19427834
38Steatorrhea (HP:0002570)3.13780472
39Abnormality of serum amino acid levels (HP:0003112)3.06677058
40Abnormality of nucleobase metabolism (HP:0010932)3.06650052
41Reduced antithrombin III activity (HP:0001976)3.02663873
42Ketoacidosis (HP:0001993)2.98211158
43Myocardial infarction (HP:0001658)2.97753745
44Hypochromic microcytic anemia (HP:0004840)2.96043743
45Hepatocellular carcinoma (HP:0001402)2.95363290
46Spontaneous abortion (HP:0005268)2.91839632
47Osteomalacia (HP:0002749)2.78985000
48Metabolic acidosis (HP:0001942)2.77423638
49Skin nodule (HP:0200036)2.76261430
50Abnormality of purine metabolism (HP:0004352)2.68181163
51Systemic lupus erythematosus (HP:0002725)2.66281855
52Vascular calcification (HP:0004934)2.63862257
53Lethargy (HP:0001254)2.61736154
54Dicarboxylic aciduria (HP:0003215)2.60639830
55Abnormality of dicarboxylic acid metabolism (HP:0010995)2.60639830
56Acanthocytosis (HP:0001927)2.57693405
57Fair hair (HP:0002286)2.47496209
58Purpura (HP:0000979)2.47367931
59Pulmonary embolism (HP:0002204)2.46835165
60Spastic diplegia (HP:0001264)2.45508447
61Hypoglycemic seizures (HP:0002173)2.44724405
62Neonatal hypoglycemia (HP:0001998)2.44366044
63Abnormal gallbladder morphology (HP:0012437)2.44000783
64Glomerulonephritis (HP:0000099)2.41827962
65Mitral stenosis (HP:0001718)2.41240162
66Cerebral edema (HP:0002181)2.39269797
67Gout (HP:0001997)2.39136363
68Cholelithiasis (HP:0001081)2.38721225
69Irritability (HP:0000737)2.35245862
70Malnutrition (HP:0004395)2.34309533
71Cardiovascular calcification (HP:0011915)2.33657497
72Neonatal onset (HP:0003623)2.28898701
73Abnormal gallbladder physiology (HP:0012438)2.24378570
74Cholecystitis (HP:0001082)2.24378570
75Recurrent gram-negative bacterial infections (HP:0005420)2.21836264
76Esophageal varix (HP:0002040)2.21616942
77Amyloidosis (HP:0011034)2.17847201
78Pancreatitis (HP:0001733)2.15992236
79Gingival bleeding (HP:0000225)2.13937516
80Menorrhagia (HP:0000132)2.13696443
81Sensorimotor neuropathy (HP:0007141)2.13682117
82Brushfield spots (HP:0001088)2.13087453
83Elevated alkaline phosphatase (HP:0003155)2.10579547
84Poikilocytosis (HP:0004447)2.09656566
85Late onset (HP:0003584)2.08826196
86Vomiting (HP:0002013)2.06066051
87Thrombophlebitis (HP:0004418)2.05700861
88Generalized aminoaciduria (HP:0002909)2.05143742
89Hyperphosphaturia (HP:0003109)2.04969187
90Opisthotonus (HP:0002179)2.03656692
91Enlarged kidneys (HP:0000105)2.03016745
92Hemorrhage of the eye (HP:0011885)2.00600392
93Hyperinsulinemic hypoglycemia (HP:0000825)1.97183535
94Rickets (HP:0002748)1.96958636
95Abnormality of the gallbladder (HP:0005264)1.95897191
96Abnormality of the Achilles tendon (HP:0005109)1.92784560
97Abnormality of alkaline phosphatase activity (HP:0004379)1.91101382
98Hypophosphatemic rickets (HP:0004912)1.90812181
99Arthropathy (HP:0003040)1.90263352
100Hydroxyprolinuria (HP:0003080)1.90184091
101Abnormality of proline metabolism (HP:0010907)1.90184091
102Glycosuria (HP:0003076)1.88912859
103Abnormality of urine glucose concentration (HP:0011016)1.88912859
104Increased serum ferritin (HP:0003281)1.88333000
105Abnormality of iron homeostasis (HP:0011031)1.86661531
106Renal cortical cysts (HP:0000803)1.86276693
107Abnormal cartilage morphology (HP:0002763)1.85893030
108Abnormality of transition element cation homeostasis (HP:0011030)1.85726620
109Abnormal biliary tract physiology (HP:0012439)1.82856343
110Bile duct proliferation (HP:0001408)1.82856343
111Abnormal enzyme/coenzyme activity (HP:0012379)1.80702426
112Gangrene (HP:0100758)1.80543180
113Elevated hepatic transaminases (HP:0002910)1.79999704
114Abnormality of vitamin metabolism (HP:0100508)1.79965199
115Status epilepticus (HP:0002133)1.79303310
116Hyperglycemia (HP:0003074)1.77850338
117Atrioventricular block (HP:0001678)1.77820527
118Reticulocytosis (HP:0001923)1.76772837
119Alkalosis (HP:0001948)1.76126914
120Joint swelling (HP:0001386)1.75077983
121Generalized hypopigmentation of hair (HP:0011358)1.72288045
122Cerebral palsy (HP:0100021)1.68469739
123Bifid scrotum (HP:0000048)1.66277955
124Epistaxis (HP:0000421)1.64057777
125Abnormal urine phosphate concentration (HP:0012599)1.62581626
126Increased mean platelet volume (HP:0011877)1.58817183
127Increased serum pyruvate (HP:0003542)1.53539871
128Abnormal delivery (HP:0001787)1.49165851

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.22723837
2FGFR44.73332182
3SIK14.68868277
4ERN14.15813369
5TAOK33.05225319
6INSRR3.02103636
7ERBB42.74334126
8PIK3CA2.41508084
9MAP2K42.31771660
10MST1R2.18614247
11PKN22.14023484
12MYLK2.06317675
13PRPF4B1.86389529
14PIK3CG1.85799079
15FLT31.84212391
16MAPK111.78873027
17TYK21.78241350
18PDK21.76582370
19FRK1.67983226
20NTRK31.67160603
21TRIB31.66661625
22LATS11.65719450
23DAPK21.50416369
24ABL21.50194111
25PTK61.48871510
26FGFR21.41763888
27NEK91.38280509
28NLK1.36846288
29KDR1.33761119
30PINK11.23180833
31TNK21.21600101
32ARAF1.21173828
33JAK21.20950333
34MUSK1.19918092
35MAP3K71.16140178
36GRK61.14208161
37PRKAA21.11219290
38PRKG11.08454345
39MAP2K31.07613933
40TBK11.06451456
41STK161.05291544
42JAK11.02224258
43MAP3K141.01960543
44ERBB20.99606573
45MAPK40.99083180
46SCYL20.98698214
47PRKCZ0.96400766
48MAP3K30.94440103
49PRKACA0.94355056
50STK38L0.93474237
51CSNK1D0.93011742
52MAP3K100.91096259
53FER0.87974922
54EPHB10.86561012
55EPHA30.85781384
56WNK30.85255593
57MET0.84038326
58CDK60.83518527
59IRAK30.82986691
60MAP3K110.82378487
61MAPK150.79723324
62MAP3K120.77481367
63CAMKK10.76959546
64MAPK120.76871084
65MAP2K60.76362143
66TIE10.75595951
67CAMKK20.74917128
68RIPK10.73990534
69PRKACG0.73867989
70CAMK2G0.73034975
71CSK0.71580181
72DYRK1B0.70126761
73PRKCB0.67636112
74GSK3A0.66793659
75PRKACB0.66479968
76PRKAA10.65343165
77CAMK1D0.63699819
78SGK30.63075692
79RPS6KA30.62969374
80TAOK20.62942079
81MAP3K20.62357307
82EIF2AK10.62101738
83MAPK70.61392122
84SGK10.60874068
85IKBKE0.56403565
86PTK20.54521843
87GRK10.54355520
88FGFR30.54340138
89STK380.54167299
90CSNK2A10.53529064
91CSF1R0.53233343
92EPHA40.52248529
93CSNK1E0.52079514
94PRKCQ0.51713832
95PDPK10.50990474
96ZAP700.50190157
97TGFBR20.49481882
98MAP3K50.48198182
99CSNK1G10.47190811
100BRSK20.47011448
101CSNK2A20.46804153
102CSNK1A10.46714112
103SGK20.45503126
104PRKCG0.44724321
105IGF1R0.44634478
106CDK40.44363733
107MAPKAPK30.43110259
108EPHA20.42534836
109AKT30.41100685
110MAP2K10.40839364
111SRC0.39148040
112RET0.37613981
113EIF2AK30.36236878
114PBK0.35610205
115NEK10.33675752
116ICK0.33075691
117IRAK10.32670501
118CAMK40.32241248
119MTOR0.31940888
120MAP3K130.30887171
121AKT20.29942879
122SGK4940.29803477
123SGK2230.29803477
124PDK10.29522397
125EGFR0.29279671
126PKN10.29185993
127IRAK20.28830697
128PRKCA0.28152900
129MAP3K60.28059638
130LATS20.27630898
131MAP2K20.26159622
132CSNK1G20.26028931
133PDK40.24301434
134PDK30.24301434
135CSNK1G30.22294332
136MAP3K10.21315551
137ABL10.20723195

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.44729956
2Nitrogen metabolism_Homo sapiens_hsa009103.56813886
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.44550008
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.30194931
5Arginine biosynthesis_Homo sapiens_hsa002203.01169786
6Tryptophan metabolism_Homo sapiens_hsa003802.72629126
7Complement and coagulation cascades_Homo sapiens_hsa046102.69591964
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.68345611
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.59791591
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.49359187
11Fatty acid degradation_Homo sapiens_hsa000712.47126949
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.36216912
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.34184659
14Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.25437539
15Butanoate metabolism_Homo sapiens_hsa006502.14283811
16Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.06407337
17Chemical carcinogenesis_Homo sapiens_hsa052042.06082161
18Peroxisome_Homo sapiens_hsa041462.05073343
19Caffeine metabolism_Homo sapiens_hsa002322.02868944
20Histidine metabolism_Homo sapiens_hsa003401.94277961
21* Steroid hormone biosynthesis_Homo sapiens_hsa001401.92639510
22Propanoate metabolism_Homo sapiens_hsa006401.88679894
23PPAR signaling pathway_Homo sapiens_hsa033201.84951151
24Drug metabolism - other enzymes_Homo sapiens_hsa009831.84838718
25Fatty acid metabolism_Homo sapiens_hsa012121.77062390
26beta-Alanine metabolism_Homo sapiens_hsa004101.73636470
27Staphylococcus aureus infection_Homo sapiens_hsa051501.71913416
28Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.71476683
29Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.70051408
30* Retinol metabolism_Homo sapiens_hsa008301.67166101
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.61923701
32Selenocompound metabolism_Homo sapiens_hsa004501.56540006
33Phenylalanine metabolism_Homo sapiens_hsa003601.56192422
34Bile secretion_Homo sapiens_hsa049761.52387526
35Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.48773854
362-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.47701318
37Tyrosine metabolism_Homo sapiens_hsa003501.43239336
38Sulfur metabolism_Homo sapiens_hsa009201.34561393
39Starch and sucrose metabolism_Homo sapiens_hsa005001.32058172
40Pyruvate metabolism_Homo sapiens_hsa006201.31790584
41Fatty acid elongation_Homo sapiens_hsa000621.30462608
42Cysteine and methionine metabolism_Homo sapiens_hsa002701.28337944
43Folate biosynthesis_Homo sapiens_hsa007901.24070814
44Fat digestion and absorption_Homo sapiens_hsa049751.23214415
45ABC transporters_Homo sapiens_hsa020101.22256252
46Biosynthesis of amino acids_Homo sapiens_hsa012301.16144874
47Steroid biosynthesis_Homo sapiens_hsa001001.12061122
48Carbon metabolism_Homo sapiens_hsa012001.09513983
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.01332092
50Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.99108785
51Maturity onset diabetes of the young_Homo sapiens_hsa049500.98135479
52Cyanoamino acid metabolism_Homo sapiens_hsa004600.97996819
53Arginine and proline metabolism_Homo sapiens_hsa003300.97208097
54Vitamin B6 metabolism_Homo sapiens_hsa007500.97173287
55Sulfur relay system_Homo sapiens_hsa041220.93752722
56Vitamin digestion and absorption_Homo sapiens_hsa049770.90514034
57Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.87669160
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.84238779
59Lysine degradation_Homo sapiens_hsa003100.79602876
60One carbon pool by folate_Homo sapiens_hsa006700.74417557
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.67961588
62Glycerolipid metabolism_Homo sapiens_hsa005610.67788577
63Glutathione metabolism_Homo sapiens_hsa004800.67783186
64Pentose phosphate pathway_Homo sapiens_hsa000300.56724333
65Fatty acid biosynthesis_Homo sapiens_hsa000610.49107361
66Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.45964436
67Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.45451862
68* Metabolic pathways_Homo sapiens_hsa011000.45273227
69Pertussis_Homo sapiens_hsa051330.36836650
70Prion diseases_Homo sapiens_hsa050200.32205376
71Linoleic acid metabolism_Homo sapiens_hsa005910.29704399
72Galactose metabolism_Homo sapiens_hsa000520.29566890
73alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.25368372
74Fructose and mannose metabolism_Homo sapiens_hsa000510.24017888
75Insulin resistance_Homo sapiens_hsa049310.22219280
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.20056215
77Glycerophospholipid metabolism_Homo sapiens_hsa005640.16943315
78Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.16883188
79Glucagon signaling pathway_Homo sapiens_hsa049220.07154575
80Serotonergic synapse_Homo sapiens_hsa047260.01292321
81AMPK signaling pathway_Homo sapiens_hsa041520.00306516
82Type II diabetes mellitus_Homo sapiens_hsa04930-0.2536911
83Amoebiasis_Homo sapiens_hsa05146-0.2493515
84Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.2467512
85Ether lipid metabolism_Homo sapiens_hsa00565-0.2423043
86Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2393804
87Circadian rhythm_Homo sapiens_hsa04710-0.2328127
88Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.2261229
89Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2231036
90N-Glycan biosynthesis_Homo sapiens_hsa00510-0.2157850
91Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.2107132
92Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.1997449
93Sphingolipid metabolism_Homo sapiens_hsa00600-0.1995466
94Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1962015
95Hepatitis C_Homo sapiens_hsa05160-0.1796286
96Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1767957
97Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1696281
98Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1673220
99Renin-angiotensin system_Homo sapiens_hsa04614-0.1372270
100African trypanosomiasis_Homo sapiens_hsa05143-0.1352674
101Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1330891
102Insulin signaling pathway_Homo sapiens_hsa04910-0.1172139
103Regulation of autophagy_Homo sapiens_hsa04140-0.1077491
104Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1074271
105Mineral absorption_Homo sapiens_hsa04978-0.0589613
106Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0524718
107Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0506908
108Other glycan degradation_Homo sapiens_hsa00511-0.0506321
109Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0473521

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