HSD17B8

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: In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1deoxyribonucleoside monophosphate metabolic process (GO:0009162)5.04289482
2pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.92641450
3deoxyribonucleotide catabolic process (GO:0009264)4.40172330
4purine deoxyribonucleotide catabolic process (GO:0009155)4.39038493
5ribosomal small subunit assembly (GO:0000028)4.20960599
6protein complex biogenesis (GO:0070271)4.19953650
7deoxyribose phosphate catabolic process (GO:0046386)4.15756751
8mitochondrial respiratory chain complex I assembly (GO:0032981)4.04592055
9NADH dehydrogenase complex assembly (GO:0010257)4.04592055
10mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.04592055
11pyrimidine nucleotide catabolic process (GO:0006244)3.97473995
12base-excision repair, AP site formation (GO:0006285)3.95209935
13viral transcription (GO:0019083)3.91862314
14mitochondrial respiratory chain complex assembly (GO:0033108)3.89903203
15GDP-mannose metabolic process (GO:0019673)3.87872248
16oxidative phosphorylation (GO:0006119)3.87801574
17glyoxylate metabolic process (GO:0046487)3.70164565
18regulation of mitochondrial translation (GO:0070129)3.69073200
19pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.66312163
20translational termination (GO:0006415)3.65690334
212-deoxyribonucleotide metabolic process (GO:0009394)3.63328110
22mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.62534231
23purine deoxyribonucleotide metabolic process (GO:0009151)3.60903567
24iron-sulfur cluster assembly (GO:0016226)3.60367877
25metallo-sulfur cluster assembly (GO:0031163)3.60367877
26purine nucleotide salvage (GO:0032261)3.59967869
27ribosomal small subunit biogenesis (GO:0042274)3.53214434
28respiratory chain complex IV assembly (GO:0008535)3.46809542
29cytochrome complex assembly (GO:0017004)3.43790013
30ATP synthesis coupled proton transport (GO:0015986)3.41687809
31energy coupled proton transport, down electrochemical gradient (GO:0015985)3.41687809
32deoxyribose phosphate metabolic process (GO:0019692)3.40110175
33translational elongation (GO:0006414)3.39934452
34nucleotide salvage (GO:0043173)3.39356392
35phosphatidylglycerol biosynthetic process (GO:0006655)3.39218716
36deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.33704375
37autophagic vacuole fusion (GO:0000046)3.29493167
38tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.27264689
39RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.27264689
40SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.23513642
41protein maturation by protein folding (GO:0022417)3.20022158
42negative regulation of B cell apoptotic process (GO:0002903)3.18182753
43sulfur amino acid catabolic process (GO:0000098)3.17578503
44heme biosynthetic process (GO:0006783)3.16181202
45cotranslational protein targeting to membrane (GO:0006613)3.14104524
46protein targeting to ER (GO:0045047)3.13132108
47respiratory electron transport chain (GO:0022904)3.11910104
48aerobic respiration (GO:0009060)3.09955564
49electron transport chain (GO:0022900)3.07889233
50protein localization to endoplasmic reticulum (GO:0070972)3.07576743
51mannosylation (GO:0097502)3.07464526
52mitochondrial calcium ion transport (GO:0006851)3.06111302
53branched-chain amino acid catabolic process (GO:0009083)3.05752809
54viral life cycle (GO:0019058)3.05347043
55erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.00730538
56L-phenylalanine metabolic process (GO:0006558)3.00730538
57deoxyribonucleotide metabolic process (GO:0009262)2.99837921
58response to misfolded protein (GO:0051788)2.99294273
59erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.98698688
60L-phenylalanine catabolic process (GO:0006559)2.98698688
61establishment of protein localization to endoplasmic reticulum (GO:0072599)2.98342063
62heme metabolic process (GO:0042168)2.97491449
63DNA deamination (GO:0045006)2.97354494
64maturation of SSU-rRNA (GO:0030490)2.92695420
65rRNA modification (GO:0000154)2.90000526
66purine ribonucleotide transport (GO:0015868)2.89097504
67purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)2.87161905
68deoxyribose phosphate biosynthetic process (GO:0046385)2.85910348
692-deoxyribonucleotide biosynthetic process (GO:0009265)2.85910348
70branched-chain amino acid metabolic process (GO:0009081)2.83342172
71cellular protein complex disassembly (GO:0043624)2.82000279
72ubiquinone biosynthetic process (GO:0006744)2.79649086
73mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.79529892
74valine metabolic process (GO:0006573)2.78963186
75xenobiotic catabolic process (GO:0042178)2.78228395
76cardiolipin metabolic process (GO:0032048)2.78169988
77pseudouridine synthesis (GO:0001522)2.76664582
78NADH metabolic process (GO:0006734)2.75748053
79GPI anchor biosynthetic process (GO:0006506)2.73476027
80nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.73246095
81polyketide metabolic process (GO:0030638)2.68402304
82doxorubicin metabolic process (GO:0044598)2.68402304
83daunorubicin metabolic process (GO:0044597)2.68402304
84regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.66990342
85aldehyde catabolic process (GO:0046185)2.66356554
86cellular component biogenesis (GO:0044085)2.64512513
87GTP biosynthetic process (GO:0006183)2.63882929
88protoporphyrinogen IX biosynthetic process (GO:0006782)2.63578454
89quinone biosynthetic process (GO:1901663)2.61163823
90chaperone-mediated protein transport (GO:0072321)2.60524989
91guanosine-containing compound biosynthetic process (GO:1901070)2.60168837
92aminoglycoside antibiotic metabolic process (GO:0030647)2.58156029
93UV protection (GO:0009650)2.57323364
94response to interferon-beta (GO:0035456)2.56829221
95translational initiation (GO:0006413)2.56454559
96protein complex disassembly (GO:0043241)2.55985238
97purine nucleoside triphosphate biosynthetic process (GO:0009145)2.55329197
98protoporphyrinogen IX metabolic process (GO:0046501)2.54556370
99galactose catabolic process (GO:0019388)2.52368201
100cellular response to interferon-beta (GO:0035458)2.51883552

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.05421868
2JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.04445499
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.02309899
4NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.75472495
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.55869760
6MYC_18358816_ChIP-ChIP_MESCs_Mouse2.50880313
7ELF1_17652178_ChIP-ChIP_JURKAT_Human2.48024950
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.47138476
9HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.45316193
10MYC_18555785_ChIP-Seq_MESCs_Mouse2.44399219
11VDR_21846776_ChIP-Seq_THP-1_Human2.34423214
12ETS1_20019798_ChIP-Seq_JURKAT_Human2.27411371
13KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.21764754
14SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.17496360
15XRN2_22483619_ChIP-Seq_HELA_Human2.14202063
16SRF_21415370_ChIP-Seq_HL-1_Mouse2.12307793
17TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.11085902
18CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.10988854
19CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.03356416
20CEBPB_24764292_ChIP-Seq_MC3T3_Mouse2.02083662
21ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.00570097
22IRF8_22096565_ChIP-ChIP_GC-B_Human2.00217736
23GABP_17652178_ChIP-ChIP_JURKAT_Human1.96590316
24THAP11_20581084_ChIP-Seq_MESCs_Mouse1.86882844
25SRY_22984422_ChIP-ChIP_TESTIS_Rat1.84364490
26PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.82267032
27BCL6_27268052_Chip-Seq_Bcells_Human1.81198119
28SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.79344666
29LXR_22292898_ChIP-Seq_THP-1_Human1.78874625
30GABP_19822575_ChIP-Seq_HepG2_Human1.77668064
31P68_20966046_ChIP-Seq_HELA_Human1.76312405
32VDR_23849224_ChIP-Seq_CD4+_Human1.70632739
33FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.69174244
34E2F7_22180533_ChIP-Seq_HELA_Human1.67280130
35CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.65326408
36BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.65246139
37EST1_17652178_ChIP-ChIP_JURKAT_Human1.65130851
38TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.64804420
39MYC_19030024_ChIP-ChIP_MESCs_Mouse1.64053117
40CREB1_15753290_ChIP-ChIP_HEK293T_Human1.62199583
41ELF1_20517297_ChIP-Seq_JURKAT_Human1.60590614
42BCOR_27268052_Chip-Seq_Bcells_Human1.60269261
43DCP1A_22483619_ChIP-Seq_HELA_Human1.59261324
44CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.58763076
45SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.58375643
46E2F1_18555785_ChIP-Seq_MESCs_Mouse1.58142133
47CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.57518223
48FOXP3_21729870_ChIP-Seq_TREG_Human1.55664340
49TET1_21451524_ChIP-Seq_MESCs_Mouse1.52733861
50DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.48644831
51YY1_22570637_ChIP-Seq_MALME-3M_Human1.47927124
52HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.45134977
53BP1_19119308_ChIP-ChIP_Hs578T_Human1.45049545
54ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.44065892
55E2F1_20622854_ChIP-Seq_HELA_Human1.41640767
56RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.41304909
57CIITA_25753668_ChIP-Seq_RAJI_Human1.39395618
58MAF_26560356_Chip-Seq_TH2_Human1.39027368
59MYC_22102868_ChIP-Seq_BL_Human1.38512370
60YY1_21170310_ChIP-Seq_MESCs_Mouse1.37734198
61MYC_19079543_ChIP-ChIP_MESCs_Mouse1.36894558
62* FOXP1_21924763_ChIP-Seq_HESCs_Human1.34829333
63ZNF263_19887448_ChIP-Seq_K562_Human1.33796264
64RXR_22158963_ChIP-Seq_LIVER_Mouse1.32581028
65NELFA_20434984_ChIP-Seq_ESCs_Mouse1.32435199
66TTF2_22483619_ChIP-Seq_HELA_Human1.31639078
67PHF8_20622854_ChIP-Seq_HELA_Human1.29250581
68UTX_26944678_Chip-Seq_JUKART_Human1.27846006
69CTCF_26484167_Chip-Seq_Bcells_Mouse1.27622576
70* MAF_26560356_Chip-Seq_TH1_Human1.26986382
71CTCF_21964334_Chip-Seq_Bcells_Human1.25490380
72PU.1_20513432_ChIP-Seq_Bcells_Mouse1.24929455
73P300_27268052_Chip-Seq_Bcells_Human1.24782797
74EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.24276287
75PPARA_22158963_ChIP-Seq_LIVER_Mouse1.24005535
76CTCF_18555785_ChIP-Seq_MESCs_Mouse1.21122175
77EGR1_23403033_ChIP-Seq_LIVER_Mouse1.19434789
78CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.18568979
79RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.18423615
80ERG_20887958_ChIP-Seq_HPC-7_Mouse1.17200213
81ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.15797264
82SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.15230187
83SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.14614362
84SA1_27219007_Chip-Seq_ERYTHROID_Human1.14121605
85KDM5A_27292631_Chip-Seq_BREAST_Human1.13796359
86HOXB4_20404135_ChIP-ChIP_EML_Mouse1.13158329
87CTCF_20526341_ChIP-Seq_ESCs_Human1.12553683
88VDR_24763502_ChIP-Seq_THP-1_Human1.12254916
89ZFX_18555785_ChIP-Seq_MESCs_Mouse1.10515987
90SCL_19346495_ChIP-Seq_HPC-7_Human1.09234627
91MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.09021282
92SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.07543426
93E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.07381246
94PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.07325580
95CTCF_21964334_ChIP-Seq_BJAB-B_Human1.06543009
96RARB_24833708_ChIP-Seq_LIVER_Mouse1.05591554
97NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.05248412
98SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.05112386
99MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.04965114
100SA1_27219007_Chip-Seq_Bcells_Human1.04423097

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis4.37549253
2MP0008875_abnormal_xenobiotic_pharmacok3.35408281
3MP0006036_abnormal_mitochondrial_physio2.95961011
4MP0002139_abnormal_hepatobiliary_system2.92204408
5MP0002132_abnormal_respiratory_system2.83348619
6MP0001764_abnormal_homeostasis2.65960074
7MP0005360_urolithiasis2.52073770
8MP0004147_increased_porphyrin_level2.18402164
9MP0003191_abnormal_cellular_cholesterol2.17104524
10MP0005365_abnormal_bile_salt2.16704103
11MP0003186_abnormal_redox_activity2.10074388
12MP0005397_hematopoietic_system_phenotyp1.96883358
13MP0001545_abnormal_hematopoietic_system1.96883358
14MP0005075_abnormal_melanosome_morpholog1.95473045
15MP0005085_abnormal_gallbladder_physiolo1.94037199
16MP0009697_abnormal_copulation1.89323835
17MP0009278_abnormal_bone_marrow1.88235494
18MP0009379_abnormal_foot_pigmentation1.84092840
19MP0005464_abnormal_platelet_physiology1.78031067
20MP0005083_abnormal_biliary_tract1.75774693
21MP0009840_abnormal_foam_cell1.73382692
22MP0005058_abnormal_lysosome_morphology1.72143258
23MP0005332_abnormal_amino_acid1.70549961
24MP0006035_abnormal_mitochondrial_morpho1.60194971
25MP0001986_abnormal_taste_sensitivity1.60137478
26MP0009643_abnormal_urine_homeostasis1.55049007
27MP0005584_abnormal_enzyme/coenzyme_acti1.54971163
28MP0005451_abnormal_body_composition1.54523432
29MP0003763_abnormal_thymus_physiology1.53204915
30MP0009333_abnormal_splenocyte_physiolog1.52970501
31MP0005670_abnormal_white_adipose1.48453335
32MP0005025_abnormal_response_to1.46738591
33MP0001661_extended_life_span1.41732710
34MP0005636_abnormal_mineral_homeostasis1.41444589
35MP0003656_abnormal_erythrocyte_physiolo1.41248497
36MP0008995_early_reproductive_senescence1.38883435
37MP0003693_abnormal_embryo_hatching1.34073014
38MP0005410_abnormal_fertilization1.33942569
39MP0002148_abnormal_hypersensitivity_rea1.32758377
40MP0002396_abnormal_hematopoietic_system1.32486692
41MP0000465_gastrointestinal_hemorrhage1.31189554
42MP0001666_abnormal_nutrient_absorption1.30528794
43MP0005330_cardiomyopathy1.30256511
44MP0003436_decreased_susceptibility_to1.23233947
45MP0001905_abnormal_dopamine_level1.22999689
46MP0003195_calcinosis1.20976041
47MP0000372_irregular_coat_pigmentation1.20840698
48MP0008058_abnormal_DNA_repair1.19994243
49MP0001853_heart_inflammation1.19372376
50MP0003718_maternal_effect1.18900537
51MP0008469_abnormal_protein_level1.18049275
52MP0000609_abnormal_liver_physiology1.17194255
53MP0002019_abnormal_tumor_incidence1.16222979
54MP0000689_abnormal_spleen_morphology1.14577820
55MP0002398_abnormal_bone_marrow1.13933490
56MP0005645_abnormal_hypothalamus_physiol1.12725285
57MP0002653_abnormal_ependyma_morphology1.12340321
58MP0001835_abnormal_antigen_presentation1.11787157
59MP0002723_abnormal_immune_serum1.10343471
60MP0003786_premature_aging1.10193302
61MP0002420_abnormal_adaptive_immunity1.09302574
62MP0005220_abnormal_exocrine_pancreas1.09268067
63MP0001819_abnormal_immune_cell1.07422534
64MP0002429_abnormal_blood_cell1.06860145
65MP0002822_catalepsy1.06545502
66MP0000750_abnormal_muscle_regeneration1.06482015
67MP0005319_abnormal_enzyme/_coenzyme1.06193621
68MP0001800_abnormal_humoral_immune1.05450789
69MP0004019_abnormal_vitamin_homeostasis1.05343822
70MP0003866_abnormal_defecation1.04773334
71MP0002722_abnormal_immune_system1.04616401
72MP0002118_abnormal_lipid_homeostasis1.02720259
73MP0005000_abnormal_immune_tolerance1.02574899
74MP0003011_delayed_dark_adaptation1.02492216
75MP0002452_abnormal_antigen_presenting1.02255039
76MP0008872_abnormal_physiological_respon1.00677307
77MP0008789_abnormal_olfactory_epithelium1.00601249
78MP0010094_abnormal_chromosome_stability1.00396694
79MP0000358_abnormal_cell_content/0.99999882
80MP0010329_abnormal_lipoprotein_level0.99828291
81MP0000716_abnormal_immune_system0.99825603
82MP0000678_abnormal_parathyroid_gland0.99257630
83MP0005174_abnormal_tail_pigmentation0.99055741
84MP0001881_abnormal_mammary_gland0.95394222
85MP0001845_abnormal_inflammatory_respons0.95355390
86MP0005671_abnormal_response_to0.94833222
87MP0010155_abnormal_intestine_physiology0.94156278
88MP0009785_altered_susceptibility_to0.94118219
89MP0002419_abnormal_innate_immunity0.91559296
90MP0004043_abnormal_pH_regulation0.89560924
91MP0001873_stomach_inflammation0.87256419
92MP0000681_abnormal_thyroid_gland0.85943229
93MP0003303_peritoneal_inflammation0.85686159
94MP0009765_abnormal_xenobiotic_induced0.85455305
95MP0005646_abnormal_pituitary_gland0.83816502
96MP0003878_abnormal_ear_physiology0.81642871
97MP0005377_hearing/vestibular/ear_phenot0.81642871
98MP0009642_abnormal_blood_homeostasis0.81302660
99MP0005535_abnormal_body_temperature0.81011978
100MP0000598_abnormal_liver_morphology0.80943833

Predicted human phenotypes

RankGene SetZ-score
1Hepatocellular necrosis (HP:0001404)4.71058965
2Increased intramyocellular lipid droplets (HP:0012240)4.51196622
3Hepatic necrosis (HP:0002605)4.50545031
4Mitochondrial inheritance (HP:0001427)4.43219702
5Increased muscle lipid content (HP:0009058)4.20601366
6Abnormal mitochondria in muscle tissue (HP:0008316)4.08467912
7Renal Fanconi syndrome (HP:0001994)3.80603970
8Acute necrotizing encephalopathy (HP:0006965)3.73161923
9Increased hepatocellular lipid droplets (HP:0006565)3.73080586
10Increased CSF lactate (HP:0002490)3.70921881
11Acute encephalopathy (HP:0006846)3.69635531
12Lipid accumulation in hepatocytes (HP:0006561)3.52014736
13Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.38073642
14Dicarboxylic aciduria (HP:0003215)3.28877343
15Abnormality of dicarboxylic acid metabolism (HP:0010995)3.28877343
16Decreased activity of mitochondrial respiratory chain (HP:0008972)3.15207980
17Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.15207980
18Cerebral edema (HP:0002181)3.14874532
19Testicular atrophy (HP:0000029)3.08581992
20Type I transferrin isoform profile (HP:0003642)3.05496325
21Lactic acidosis (HP:0003128)3.02757388
22Reduced antithrombin III activity (HP:0001976)2.96518990
23Cerebral palsy (HP:0100021)2.96467080
24Hypertensive crisis (HP:0100735)2.93860469
25Petechiae (HP:0000967)2.91307818
26Exercise intolerance (HP:0003546)2.85814707
27Progressive macrocephaly (HP:0004481)2.84875436
28Ragged-red muscle fibers (HP:0003200)2.83973945
29Increased serum lactate (HP:0002151)2.83629855
30Generalized aminoaciduria (HP:0002909)2.75282526
31Abnormal number of erythroid precursors (HP:0012131)2.73383831
32Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.72535870
33Abnormal protein N-linked glycosylation (HP:0012347)2.72535870
34Abnormal protein glycosylation (HP:0012346)2.72535870
35Abnormal glycosylation (HP:0012345)2.72535870
36Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.67589609
37Abnormality of fatty-acid metabolism (HP:0004359)2.67146930
38Decreased electroretinogram (ERG) amplitude (HP:0000654)2.66943354
39Elevated erythrocyte sedimentation rate (HP:0003565)2.64541696
40Abnormality of cells of the erythroid lineage (HP:0012130)2.59994143
41Hyperglycinemia (HP:0002154)2.49270241
42Abnormality of the heme biosynthetic pathway (HP:0010472)2.47312997
43Rhabdomyolysis (HP:0003201)2.46627947
44Respiratory difficulties (HP:0002880)2.46234192
45Lethargy (HP:0001254)2.44864563
46Microvesicular hepatic steatosis (HP:0001414)2.42954935
47Abnormality of aromatic amino acid family metabolism (HP:0004338)2.42657931
48Hyperammonemia (HP:0001987)2.42584831
49Exertional dyspnea (HP:0002875)2.39405882
50Seborrheic dermatitis (HP:0001051)2.34904375
51Progressive microcephaly (HP:0000253)2.33895730
52Respiratory failure (HP:0002878)2.33009994
53Abnormality of renal resorption (HP:0011038)2.28927644
54Reticulocytopenia (HP:0001896)2.28659478
55Prolonged partial thromboplastin time (HP:0003645)2.25228976
563-Methylglutaconic aciduria (HP:0003535)2.17236450
57Hyperthyroidism (HP:0000836)2.16976418
58Hyperglycinuria (HP:0003108)2.15748363
59Ketosis (HP:0001946)2.15233843
60Emotional lability (HP:0000712)2.10018699
61Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.09075869
62Abnormality of urine glucose concentration (HP:0011016)2.08584807
63Glycosuria (HP:0003076)2.08584807
64Metabolic acidosis (HP:0001942)2.08524555
65Agammaglobulinemia (HP:0004432)2.08326011
66Purpura (HP:0000979)2.08274136
67Hyperphosphaturia (HP:0003109)2.08004128
68Spastic paraparesis (HP:0002313)2.07176133
69Aplastic anemia (HP:0001915)2.04261012
70Progressive muscle weakness (HP:0003323)2.04040412
71Obstructive lung disease (HP:0006536)2.02001108
72Chronic obstructive pulmonary disease (HP:0006510)2.02001108
73Abnormality of glycine metabolism (HP:0010895)1.98294591
74Abnormality of serine family amino acid metabolism (HP:0010894)1.98294591
75Macrocytic anemia (HP:0001972)1.95702611
76CNS demyelination (HP:0007305)1.95380944
77Joint hemorrhage (HP:0005261)1.95050617
78Ketoacidosis (HP:0001993)1.94855647
79Hepatosplenomegaly (HP:0001433)1.92157106
80Opisthotonus (HP:0002179)1.90331080
81Increased serum ferritin (HP:0003281)1.90128000
82Myoglobinuria (HP:0002913)1.88080995
83Muscle fiber atrophy (HP:0100295)1.85921954
84Vomiting (HP:0002013)1.85527551
85Abnormality of the parathyroid morphology (HP:0011766)1.82555971
86Poor speech (HP:0002465)1.82257206
87Abnormal urine phosphate concentration (HP:0012599)1.82157630
88Abnormality of alanine metabolism (HP:0010916)1.82038006
89Hyperalaninemia (HP:0003348)1.82038006
90Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.82038006
91Abnormality of serum amino acid levels (HP:0003112)1.77736869
92Acute hepatic failure (HP:0006554)1.77660599
93Myositis (HP:0100614)1.76894637
94Severe visual impairment (HP:0001141)1.76400628
95Myopathic facies (HP:0002058)1.76072122
96Brushfield spots (HP:0001088)1.73971437
97Cholelithiasis (HP:0001081)1.72914913
98Pallor (HP:0000980)1.72672917
99Optic disc pallor (HP:0000543)1.72066601
100Panhypogammaglobulinemia (HP:0003139)1.71589428

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK25.95116098
2TESK24.61434580
3BCKDK4.51851386
4NME23.57156971
5PIM23.10177333
6KDR2.94876515
7SCYL22.91451120
8ERN12.87831167
9MAP3K112.61733061
10VRK12.05078362
11BRSK22.04982529
12TESK12.00826101
13MAP4K11.99379962
14SMG11.98338378
15STK161.93451942
16ARAF1.84982463
17NUAK11.74345680
18TLK11.66620493
19TBK11.54804932
20TAOK31.47857616
21PBK1.41354208
22MAP2K31.40803148
23MAPK151.40588228
24MUSK1.38205589
25WEE11.30164019
26ZAK1.28093393
27MAP4K21.27213161
28GRK61.26175577
29AURKA1.14653790
30CCNB11.07149681
31BRSK11.04856086
32IKBKB1.03480871
33TAOK21.02356545
34RPS6KA51.02303905
35TAF10.95589503
36MAPKAPK30.95346119
37LRRK20.88599932
38ABL20.87922649
39EPHA20.85894592
40CSNK1G30.83917526
41KIT0.82346644
42BUB10.81534794
43NME10.80471468
44RPS6KB20.76100955
45CDK190.74555359
46JAK30.73985561
47DAPK10.73548785
48FLT30.71883903
49TNK20.71370338
50MAP3K10.71332215
51CDK40.69939077
52MAP3K120.67379535
53EIF2AK10.65119429
54MAPK110.58467443
55MAP3K30.55792068
56DAPK30.55150102
57RPS6KA40.55110297
58LIMK10.54843506
59ZAP700.52589414
60MAPKAPK50.50832921
61SIK10.50142109
62MAP2K70.49617384
63CDC70.49574833
64ATR0.48734944
65BLK0.48663904
66BTK0.47619958
67CSNK1A1L0.47200672
68CDK90.46990286
69SYK0.45832866
70HIPK20.45395603
71IRAK30.45083168
72RAF10.44674615
73IKBKE0.43339474
74CSF1R0.43028904
75PIM10.42497350
76MAP2K60.41823462
77AURKB0.41773650
78EPHA30.41663014
79CDK70.41655779
80OBSCN0.41165744
81DYRK20.40368672
82TXK0.39443229
83TAOK10.39197587
84CSNK2A20.36267257
85CSNK1G20.34925460
86CSNK1G10.34787927
87DYRK1B0.34017212
88CDK80.33192778
89CSNK2A10.33065174
90TYK20.32852427
91FES0.32589282
92LYN0.32487239
93GRK50.31418548
94PRKCQ0.29968532
95EPHB10.28552066
96TRIM280.28038866
97CHEK20.27951118
98PRKCI0.26491056
99EIF2AK20.22435554
100PASK0.22360850

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030103.26692765
2Sulfur relay system_Homo sapiens_hsa041222.96474591
3Oxidative phosphorylation_Homo sapiens_hsa001902.68473276
4Base excision repair_Homo sapiens_hsa034102.44709182
5Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.36932984
6Parkinsons disease_Homo sapiens_hsa050122.25887854
7Proteasome_Homo sapiens_hsa030502.25664016
8DNA replication_Homo sapiens_hsa030302.18484725
92-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.17867291
10Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.04681316
11Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.02112854
12Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.80964793
13Fatty acid elongation_Homo sapiens_hsa000621.80403171
14Peroxisome_Homo sapiens_hsa041461.76438650
15Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.74559486
16Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.74425354
17Phenylalanine metabolism_Homo sapiens_hsa003601.69182264
18Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.65360654
19Glutathione metabolism_Homo sapiens_hsa004801.63959977
20Pyrimidine metabolism_Homo sapiens_hsa002401.62866069
21Huntingtons disease_Homo sapiens_hsa050161.62847124
22One carbon pool by folate_Homo sapiens_hsa006701.62325035
23Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.62282127
24Biosynthesis of amino acids_Homo sapiens_hsa012301.61219397
25RNA polymerase_Homo sapiens_hsa030201.59874117
26Tyrosine metabolism_Homo sapiens_hsa003501.53386730
27Carbon metabolism_Homo sapiens_hsa012001.52174402
28Chemical carcinogenesis_Homo sapiens_hsa052041.51429651
29Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.50530977
30Primary bile acid biosynthesis_Homo sapiens_hsa001201.48167012
31Alzheimers disease_Homo sapiens_hsa050101.42122829
32Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.40349868
33Mismatch repair_Homo sapiens_hsa034301.39991134
34Primary immunodeficiency_Homo sapiens_hsa053401.38157688
35Sulfur metabolism_Homo sapiens_hsa009201.37198812
36Homologous recombination_Homo sapiens_hsa034401.36139739
37Fructose and mannose metabolism_Homo sapiens_hsa000511.35229449
38Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.33777467
39Fatty acid degradation_Homo sapiens_hsa000711.27718628
40Drug metabolism - other enzymes_Homo sapiens_hsa009831.24404498
41Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.17324561
42Butanoate metabolism_Homo sapiens_hsa006501.17293424
43Arginine biosynthesis_Homo sapiens_hsa002201.14268130
44Pyruvate metabolism_Homo sapiens_hsa006201.10218222
45Pentose phosphate pathway_Homo sapiens_hsa000301.09982124
46Retinol metabolism_Homo sapiens_hsa008301.08742374
47Cyanoamino acid metabolism_Homo sapiens_hsa004601.08304546
48Cysteine and methionine metabolism_Homo sapiens_hsa002701.07850807
49Asthma_Homo sapiens_hsa053101.06249064
50Other glycan degradation_Homo sapiens_hsa005111.06156448
51Systemic lupus erythematosus_Homo sapiens_hsa053221.05463732
52Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.05173405
53Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.05071786
54* Steroid hormone biosynthesis_Homo sapiens_hsa001401.02881742
55Fatty acid metabolism_Homo sapiens_hsa012120.99557106
56Galactose metabolism_Homo sapiens_hsa000520.97894078
57Propanoate metabolism_Homo sapiens_hsa006400.97888893
58Nucleotide excision repair_Homo sapiens_hsa034200.96933881
59Allograft rejection_Homo sapiens_hsa053300.95989488
60Pentose and glucuronate interconversions_Homo sapiens_hsa000400.95789887
61* Metabolic pathways_Homo sapiens_hsa011000.95634032
62Intestinal immune network for IgA production_Homo sapiens_hsa046720.95482363
63Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.95430962
64Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.91718563
65Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.90591784
66Autoimmune thyroid disease_Homo sapiens_hsa053200.88704827
67Graft-versus-host disease_Homo sapiens_hsa053320.88009663
68Fanconi anemia pathway_Homo sapiens_hsa034600.87473518
69Purine metabolism_Homo sapiens_hsa002300.87417396
70Tryptophan metabolism_Homo sapiens_hsa003800.84925311
71Glycosaminoglycan degradation_Homo sapiens_hsa005310.78374573
72Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.77409993
73Maturity onset diabetes of the young_Homo sapiens_hsa049500.74563125
74Arachidonic acid metabolism_Homo sapiens_hsa005900.74243844
75Antigen processing and presentation_Homo sapiens_hsa046120.71103824
76Type I diabetes mellitus_Homo sapiens_hsa049400.70002747
77Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.69791584
78Spliceosome_Homo sapiens_hsa030400.67673503
79Arginine and proline metabolism_Homo sapiens_hsa003300.65655220
80N-Glycan biosynthesis_Homo sapiens_hsa005100.64505699
81Caffeine metabolism_Homo sapiens_hsa002320.63972453
82Vitamin digestion and absorption_Homo sapiens_hsa049770.61993422
83Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.58434412
84Folate biosynthesis_Homo sapiens_hsa007900.56725098
85beta-Alanine metabolism_Homo sapiens_hsa004100.55855072
86Regulation of autophagy_Homo sapiens_hsa041400.55251358
87Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.48684283
88Cardiac muscle contraction_Homo sapiens_hsa042600.48426222
89Staphylococcus aureus infection_Homo sapiens_hsa051500.48063506
90Starch and sucrose metabolism_Homo sapiens_hsa005000.44460232
91Protein export_Homo sapiens_hsa030600.43325070
92Complement and coagulation cascades_Homo sapiens_hsa046100.41723717
93Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.41564859
94Fat digestion and absorption_Homo sapiens_hsa049750.38012798
95Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.36104349
96Herpes simplex infection_Homo sapiens_hsa051680.35048818
97Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.34808769
98Linoleic acid metabolism_Homo sapiens_hsa005910.33805274
99PPAR signaling pathway_Homo sapiens_hsa033200.29887016
100Hematopoietic cell lineage_Homo sapiens_hsa046400.26982655

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