HSD17B1P1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1estrogen biosynthetic process (GO:0006703)9.56489058
2cellular response to ATP (GO:0071318)7.92729133
3protein carboxylation (GO:0018214)7.28917867
4peptidyl-glutamic acid carboxylation (GO:0017187)7.28917867
5GDP-mannose metabolic process (GO:0019673)7.21448798
6regulation of skeletal muscle contraction (GO:0014819)7.11317158
7adenosine receptor signaling pathway (GO:0001973)6.83406805
8negative regulation of cell aging (GO:0090344)6.82650106
9negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)6.61227813
10DNA strand renaturation (GO:0000733)6.23004272
11negative regulation of interleukin-8 production (GO:0032717)6.13219327
12regulation of synapse structural plasticity (GO:0051823)5.87010560
13G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)5.80469939
14mannose metabolic process (GO:0006013)5.62744695
15mitotic cell cycle arrest (GO:0071850)5.46422273
16proline biosynthetic process (GO:0006561)5.30937251
17purinergic nucleotide receptor signaling pathway (GO:0035590)5.21223018
18positive regulation of protein kinase C signaling (GO:0090037)5.10970342
19regulation of cytokine production involved in inflammatory response (GO:1900015)5.04858606
20lens fiber cell differentiation (GO:0070306)5.02422715
21meiotic chromosome segregation (GO:0045132)4.84142607
22adenine nucleotide transport (GO:0051503)4.78778228
23purine ribonucleotide transport (GO:0015868)4.65859428
24granulocyte differentiation (GO:0030851)4.58736967
25transepithelial transport (GO:0070633)4.52658526
26response to ATP (GO:0033198)4.42433717
27detection of light stimulus involved in sensory perception (GO:0050962)4.31984946
28detection of light stimulus involved in visual perception (GO:0050908)4.31984946
29purinergic receptor signaling pathway (GO:0035587)4.14491796
30G-protein coupled purinergic receptor signaling pathway (GO:0035588)3.98155510
31estrogen metabolic process (GO:0008210)3.96994447
32positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.92966619
33semaphorin-plexin signaling pathway (GO:0071526)3.92690000
34proline metabolic process (GO:0006560)3.90609189
35sphingosine metabolic process (GO:0006670)3.90583396
36androgen biosynthetic process (GO:0006702)3.83377982
37sphingomyelin metabolic process (GO:0006684)3.80212878
38purine nucleotide transport (GO:0015865)3.76985527
39sensory perception of taste (GO:0050909)3.72042371
40negative regulation of erythrocyte differentiation (GO:0045647)3.68941742
41UV protection (GO:0009650)3.58958397
42diol metabolic process (GO:0034311)3.48717476
43positive regulation of heat generation (GO:0031652)3.46016499
44rRNA methylation (GO:0031167)3.43734465
45folic acid transport (GO:0015884)3.43070216
46folic acid metabolic process (GO:0046655)3.39637874
47type B pancreatic cell proliferation (GO:0044342)3.35970254
48negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)3.33576532
49negative regulation of toll-like receptor signaling pathway (GO:0034122)3.31615525
50sialylation (GO:0097503)3.30958674
51endocytic recycling (GO:0032456)3.29652777
52nucleoside transmembrane transport (GO:1901642)3.20567652
53peptidyl-glutamic acid modification (GO:0018200)3.20166718
54phosphate ion homeostasis (GO:0055062)3.16878716
55trivalent inorganic anion homeostasis (GO:0072506)3.16878716
56regulation of cell aging (GO:0090342)3.14186607
57response to peptidoglycan (GO:0032494)3.12148381
58sphingoid metabolic process (GO:0046519)3.10419024
59phosphatidylglycerol biosynthetic process (GO:0006655)3.08874535
60regulation of phospholipid biosynthetic process (GO:0071071)3.08503691
61protein insertion into membrane (GO:0051205)3.07481761
62nucleotide-sugar biosynthetic process (GO:0009226)3.03672273
63sulfur amino acid catabolic process (GO:0000098)3.02200941
64mitochondrion distribution (GO:0048311)2.95714633
65glycine transport (GO:0015816)2.94496342
66negative regulation of tumor necrosis factor production (GO:0032720)2.91773134
67melanin biosynthetic process (GO:0042438)2.89199636
68sex determination (GO:0007530)2.87902353
69modulation by virus of host process (GO:0019054)2.85352311
70germinal center formation (GO:0002467)2.83856247
71urinary tract smooth muscle contraction (GO:0014848)2.83490127
72cellular anion homeostasis (GO:0030002)2.83316332
73negative regulation of tumor necrosis factor superfamily cytokine production (GO:1903556)2.82502415
74phosphatidylethanolamine biosynthetic process (GO:0006646)2.80923190
75nucleoside transport (GO:0015858)2.77349297
76histone phosphorylation (GO:0016572)2.75970964
77positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.75132428
78grooming behavior (GO:0007625)2.74856956
79melanin metabolic process (GO:0006582)2.74158207
80regulation of interferon-beta biosynthetic process (GO:0045357)2.74049750
81keratan sulfate metabolic process (GO:0042339)2.73381800
82response to muramyl dipeptide (GO:0032495)2.70958681
83cardiolipin metabolic process (GO:0032048)2.65316944
84oligosaccharide catabolic process (GO:0009313)2.64829163
85protein import into peroxisome matrix (GO:0016558)2.63266266
86female pregnancy (GO:0007565)2.61763427
87regulation of type I interferon-mediated signaling pathway (GO:0060338)2.61731390
88renal absorption (GO:0070293)2.58549904
89cell migration in hindbrain (GO:0021535)2.58505902
90regulation of cholesterol homeostasis (GO:2000188)2.57711158
91regulation of ARF GTPase activity (GO:0032312)2.57158690
92regulation of protein kinase A signaling (GO:0010738)2.56213237
93planar cell polarity pathway involved in neural tube closure (GO:0090179)2.54955164
94keratan sulfate biosynthetic process (GO:0018146)2.54549245
95peristalsis (GO:0030432)2.54470876
96pinocytosis (GO:0006907)2.54116890
97glycosphingolipid catabolic process (GO:0046479)2.52481766
98androgen metabolic process (GO:0008209)2.50219182
99triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.48843089
100rRNA modification (GO:0000154)2.47810378

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1VDR_21846776_ChIP-Seq_THP-1_Human4.43018694
2STAT6_21828071_ChIP-Seq_BEAS2B_Human3.58264179
3LXR_22292898_ChIP-Seq_THP-1_Human3.17602367
4TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse3.00342576
5P68_20966046_ChIP-Seq_HELA_Human2.80422181
6RARG_19884340_ChIP-ChIP_MEFs_Mouse2.53657859
7EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.52918528
8VDR_24763502_ChIP-Seq_THP-1_Human2.41637676
9CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.34916111
10MAF_26560356_Chip-Seq_TH2_Human2.34313197
11MYC_22102868_ChIP-Seq_BL_Human2.29279028
12RACK7_27058665_Chip-Seq_MCF-7_Human2.28317844
13KDM2B_26808549_Chip-Seq_SIL-ALL_Human2.27527650
14CTCF_27219007_Chip-Seq_ERYTHROID_Human2.23986250
15KDM2B_26808549_Chip-Seq_SUP-B15_Human2.17833097
16BCOR_27268052_Chip-Seq_Bcells_Human2.12702351
17BCL6_27268052_Chip-Seq_Bcells_Human2.11640344
18MAF_26560356_Chip-Seq_TH1_Human2.09214845
19E2F1_20622854_ChIP-Seq_HELA_Human2.05875824
20KDM2B_26808549_Chip-Seq_DND41_Human2.05157310
21DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.03236165
22ELK3_25401928_ChIP-Seq_HUVEC_Human1.96208768
23MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.92968403
24ERG_21242973_ChIP-ChIP_JURKAT_Human1.90872430
25TET1_21451524_ChIP-Seq_MESCs_Mouse1.89469363
26TCF7_22412390_ChIP-Seq_EML_Mouse1.89208027
27XRN2_22483619_ChIP-Seq_HELA_Human1.87055953
28CTCF_27219007_Chip-Seq_Bcells_Human1.86602910
29SMC4_20622854_ChIP-Seq_HELA_Human1.86018438
30MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.85603224
31SA1_27219007_Chip-Seq_ERYTHROID_Human1.81705233
32PHF8_20622854_ChIP-Seq_HELA_Human1.81585478
33SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.78974247
34CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.77167831
35UTX_26944678_Chip-Seq_JUKART_Human1.72601290
36IKZF1_21737484_ChIP-ChIP_HCT116_Human1.71044986
37RARA_24833708_ChIP-Seq_LIVER_Mouse1.67134681
38RARB_24833708_ChIP-Seq_LIVER_Mouse1.66091019
39SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.66009084
40SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.64417532
41ELF1_20517297_ChIP-Seq_JURKAT_Human1.64205360
42E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.63615427
43EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.57281103
44RXRA_24833708_ChIP-Seq_LIVER_Mouse1.56993202
45CTCF_21964334_Chip-Seq_Bcells_Human1.56137328
46CREB1_26743006_Chip-Seq_LNCaP_Human1.55398881
47TP53_22127205_ChIP-Seq_IMR90_Human1.49419031
48ESR2_21235772_ChIP-Seq_MCF-7_Human1.46899944
49FOXP1_21924763_ChIP-Seq_HESCs_Human1.44855944
50CTCF_21964334_ChIP-Seq_BJAB-B_Human1.44151600
51CTCF_20526341_ChIP-Seq_ESCs_Human1.44091381
52SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.43089178
53YY1_22570637_ChIP-Seq_MALME-3M_Human1.40540875
54DNAJC2_21179169_ChIP-ChIP_NT2_Human1.40167090
55THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.39896776
56CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.37988614
57SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.36368636
58SRY_22984422_ChIP-ChIP_TESTIS_Rat1.35327522
59PPARA_22158963_ChIP-Seq_LIVER_Mouse1.35111604
60UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.34680727
61KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.31599067
62NCOR1_26117541_ChIP-Seq_K562_Human1.30595288
63KDM2B_26808549_Chip-Seq_K562_Human1.30479421
64PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.29716090
65SA1_27219007_Chip-Seq_Bcells_Human1.28965534
66CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.28160880
67ETS1_21867929_ChIP-Seq_TH2_Mouse1.27477591
68ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.25279603
69PU.1_20513432_ChIP-Seq_Bcells_Mouse1.25013409
70KDM2B_26808549_Chip-Seq_JURKAT_Human1.22660160
71TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.21828309
72DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.20227601
73RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.19107174
74TP63_22573176_ChIP-Seq_HFKS_Human1.17753746
75CTCF_26484167_Chip-Seq_Bcells_Mouse1.17626799
76RUNX1_27514584_Chip-Seq_MCF-7_Human1.17352110
77JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.17037882
78FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.16024982
79CIITA_25753668_ChIP-Seq_RAJI_Human1.15625812
80ATF3_27146783_Chip-Seq_COLON_Human1.15416638
81RUNX1_22412390_ChIP-Seq_EML_Mouse1.15215550
82BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.14399233
83ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.13622198
84TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.12814992
85EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.12545897
86SCL_19346495_ChIP-Seq_HPC-7_Human1.11874265
87RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.11837426
88TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.10831846
89CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.09437046
90RXR_22158963_ChIP-Seq_LIVER_Mouse1.08582450
91GATA1_22383799_ChIP-Seq_G1ME_Mouse1.07973947
92MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.07590084
93UBF1/2_26484160_Chip-Seq_HMECs_Human1.07343758
94SMC3_22415368_ChIP-Seq_MEFs_Mouse1.06591062
95P300_27268052_Chip-Seq_Bcells_Human1.04878580
96BRD4_27068464_Chip-Seq_AML-cells_Mouse1.01652634
97CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.00018239
98SMC1_22415368_ChIP-Seq_MEFs_Mouse0.99800579
99SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.98687299
100ERA_21632823_ChIP-Seq_H3396_Human0.97629248

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005171_absent_coat_pigmentation6.14711869
2MP0001986_abnormal_taste_sensitivity5.53108129
3MP0005174_abnormal_tail_pigmentation4.64541103
4MP0005423_abnormal_somatic_nervous4.09943346
5MP0003136_yellow_coat_color3.97512165
6MP0002254_reproductive_system_inflammat3.78852091
7MP0003303_peritoneal_inflammation3.65024639
8MP0005409_darkened_coat_color3.33140768
9MP0000751_myopathy2.67563345
10MP0001348_abnormal_lacrimal_gland2.54272380
11MP0003878_abnormal_ear_physiology2.46949054
12MP0005377_hearing/vestibular/ear_phenot2.46949054
13MP0001661_extended_life_span2.35674514
14MP0005083_abnormal_biliary_tract2.21279136
15MP0008875_abnormal_xenobiotic_pharmacok2.17674479
16MP0001188_hyperpigmentation2.06614180
17MP0005058_abnormal_lysosome_morphology2.04308225
18MP0001968_abnormal_touch/_nociception2.04106807
19MP0003705_abnormal_hypodermis_morpholog2.01556300
20MP0003453_abnormal_keratinocyte_physiol1.93691859
21MP0005451_abnormal_body_composition1.89834002
22MP0004381_abnormal_hair_follicle1.88377490
23MP0005330_cardiomyopathy1.84011039
24MP0000015_abnormal_ear_pigmentation1.81120107
25MP0001756_abnormal_urination1.73158233
26MP0001958_emphysema1.72906049
27MP0003172_abnormal_lysosome_physiology1.71362666
28MP0004130_abnormal_muscle_cell1.68589987
29MP0002160_abnormal_reproductive_system1.67937870
30MP0005076_abnormal_cell_differentiation1.65004138
31MP0001873_stomach_inflammation1.64416277
32MP0000750_abnormal_muscle_regeneration1.56709737
33MP0000013_abnormal_adipose_tissue1.48088170
34MP0001765_abnormal_ion_homeostasis1.43679097
35MP0005365_abnormal_bile_salt1.37156423
36MP0001346_abnormal_lacrimal_gland1.34667184
37MP0001502_abnormal_circadian_rhythm1.33535660
38MP0000003_abnormal_adipose_tissue1.28777483
39MP0000747_muscle_weakness1.24315407
40MP0005410_abnormal_fertilization1.22915136
41MP0004185_abnormal_adipocyte_glucose1.21445212
42MP0000470_abnormal_stomach_morphology1.19864590
43MP0002876_abnormal_thyroid_physiology1.18197089
44MP0004019_abnormal_vitamin_homeostasis1.16494938
45MP0001919_abnormal_reproductive_system1.16364254
46MP0006082_CNS_inflammation1.09963325
47MP0005257_abnormal_intraocular_pressure1.09265991
48MP0004858_abnormal_nervous_system0.96566623
49MP0005332_abnormal_amino_acid0.95905558
50MP0000538_abnormal_urinary_bladder0.94548727
51MP0005584_abnormal_enzyme/coenzyme_acti0.88805814
52MP0005389_reproductive_system_phenotype0.86572797
53MP0003329_amyloid_beta_deposits0.85638539
54MP0009643_abnormal_urine_homeostasis0.85330422
55MP0009278_abnormal_bone_marrow0.85318877
56MP0001664_abnormal_digestion0.84799893
57MP0005501_abnormal_skin_physiology0.83951785
58MP0000685_abnormal_immune_system0.83740312
59MP0004043_abnormal_pH_regulation0.83240715
60MP0005647_abnormal_sex_gland0.82975286
61MP0003111_abnormal_nucleus_morphology0.82597272
62MP0002736_abnormal_nociception_after0.82185565
63MP0003091_abnormal_cell_migration0.80665689
64MP0004947_skin_inflammation0.78997812
65MP0003436_decreased_susceptibility_to0.78904131
66MP0001851_eye_inflammation0.77536829
67MP0009840_abnormal_foam_cell0.76890636
68MP0002735_abnormal_chemical_nociception0.76816856
69MP0003448_altered_tumor_morphology0.76379752
70MP0005375_adipose_tissue_phenotype0.75446811
71MP0002638_abnormal_pupillary_reflex0.74451700
72MP0000367_abnormal_coat/_hair0.73871199
73MP0009697_abnormal_copulation0.73743373
74MP0002075_abnormal_coat/hair_pigmentati0.71208533
75MP0005023_abnormal_wound_healing0.70072456
76MP0005666_abnormal_adipose_tissue0.65673548
77MP0000358_abnormal_cell_content/0.64767361
78MP0003763_abnormal_thymus_physiology0.63581982
79MP0000858_altered_metastatic_potential0.61223888
80MP0002998_abnormal_bone_remodeling0.60609689
81MP0002136_abnormal_kidney_physiology0.58703471
82MP0010368_abnormal_lymphatic_system0.58046223
83MP0009931_abnormal_skin_appearance0.57764768
84MP0010329_abnormal_lipoprotein_level0.54889715
85MP0004782_abnormal_surfactant_physiolog0.54618910
86MP0008874_decreased_physiological_sensi0.53454824
87MP0004087_abnormal_muscle_fiber0.52298632
88MP0002118_abnormal_lipid_homeostasis0.52231890
89MP0003656_abnormal_erythrocyte_physiolo0.52228593
90MP0010155_abnormal_intestine_physiology0.52126493
91MP0002419_abnormal_innate_immunity0.51538525
92MP0002019_abnormal_tumor_incidence0.50575917
93MP0002060_abnormal_skin_morphology0.49934256
94MP0003806_abnormal_nucleotide_metabolis0.49930321
95MP0001905_abnormal_dopamine_level0.49447034
96MP0010771_integument_phenotype0.49205173
97MP0002933_joint_inflammation0.48970462
98MP0002909_abnormal_adrenal_gland0.48784756
99MP0005167_abnormal_blood-brain_barrier0.48730581
100MP0003183_abnormal_peptide_metabolism0.45861522

Predicted human phenotypes

RankGene SetZ-score
1Testicular atrophy (HP:0000029)6.44388441
2Ulnar bowing (HP:0003031)5.47749459
3Rib fusion (HP:0000902)5.38923505
4Hemorrhage of the eye (HP:0011885)5.09838803
5Annular pancreas (HP:0001734)4.85770272
6Dyschromatopsia (HP:0007641)4.79853655
7Mesangial abnormality (HP:0001966)4.74220834
8Thin bony cortex (HP:0002753)4.62786942
9Joint hemorrhage (HP:0005261)4.59174974
10Turricephaly (HP:0000262)4.37231468
11Attenuation of retinal blood vessels (HP:0007843)4.19388349
12Facial hemangioma (HP:0000329)4.15227448
13Rectovaginal fistula (HP:0000143)4.12839120
14Rectal fistula (HP:0100590)4.12839120
15Akinesia (HP:0002304)4.09842095
16Abnormality of the intrinsic pathway (HP:0010989)4.04832574
17Vaginal fistula (HP:0004320)4.04430682
18Poikiloderma (HP:0001029)4.02148019
19Popliteal pterygium (HP:0009756)4.00725145
20Intestinal fistula (HP:0100819)3.97631493
21Prolonged partial thromboplastin time (HP:0003645)3.96152318
22Facial diplegia (HP:0001349)3.91686709
23Aplasia of the musculature (HP:0100854)3.57893205
24Choroideremia (HP:0001139)3.40935565
25Atrioventricular block (HP:0001678)3.31877084
26Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.27503681
27Capillary hemangiomas (HP:0005306)3.23810002
28Coronal craniosynostosis (HP:0004440)3.22131509
29Anteriorly placed anus (HP:0001545)3.11940574
30Increased circulating renin level (HP:0000848)3.06945990
31Fetal akinesia sequence (HP:0001989)3.06393036
32Congenital stationary night blindness (HP:0007642)3.05163254
33Squamous cell carcinoma (HP:0002860)3.04988845
34Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.96061682
35Bowed forearm bones (HP:0003956)2.95839777
36Bowing of the arm (HP:0006488)2.95839777
37Abnormality of the common coagulation pathway (HP:0010990)2.92150187
38Joint stiffness (HP:0001387)2.89623227
39Decreased electroretinogram (ERG) amplitude (HP:0000654)2.87302556
40Increased hepatocellular lipid droplets (HP:0006565)2.79794014
41Abnormal drinking behavior (HP:0030082)2.77707039
42Polydipsia (HP:0001959)2.77707039
43Renal Fanconi syndrome (HP:0001994)2.75775357
44Long clavicles (HP:0000890)2.74931396
45Abnormality of the costochondral junction (HP:0000919)2.72878536
46Neonatal respiratory distress (HP:0002643)2.70206514
47Abnormality of mucopolysaccharide metabolism (HP:0011020)2.69836914
48Abnormality of polysaccharide metabolism (HP:0011012)2.69836914
49Abnormality of glycosaminoglycan metabolism (HP:0004371)2.69836914
50Delayed epiphyseal ossification (HP:0002663)2.69797121
51Lipid accumulation in hepatocytes (HP:0006561)2.62830584
52Short chin (HP:0000331)2.62827300
53Myotonia (HP:0002486)2.61718129
54Decreased central vision (HP:0007663)2.61605569
55Bony spicule pigmentary retinopathy (HP:0007737)2.59654404
56Hypoalbuminemia (HP:0003073)2.55380125
57Abnormal albumin level (HP:0012116)2.55380125
58Thin ribs (HP:0000883)2.51311249
59Neonatal onset (HP:0003623)2.48234052
60Mucopolysacchariduria (HP:0008155)2.42479669
61Urinary glycosaminoglycan excretion (HP:0003541)2.42479669
62Hypophosphatemic rickets (HP:0004912)2.37795298
63Widely patent fontanelles and sutures (HP:0004492)2.37140661
64Abnormality of placental membranes (HP:0011409)2.36108928
65Amniotic constriction ring (HP:0009775)2.36108928
66Myopathic facies (HP:0002058)2.32274789
67Enlarged epiphyses (HP:0010580)2.31441084
68Pustule (HP:0200039)2.31363602
69Zonular cataract (HP:0010920)2.28930870
70Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.28539256
71Chorioretinal atrophy (HP:0000533)2.25661197
72Increased muscle lipid content (HP:0009058)2.21936006
73Heart block (HP:0012722)2.19333141
74Patellar aplasia (HP:0006443)2.16816310
75Increased intramyocellular lipid droplets (HP:0012240)2.16529288
76Bilateral sensorineural hearing impairment (HP:0008619)2.15702183
77Basal cell carcinoma (HP:0002671)2.15360204
78Abnormal atrioventricular conduction (HP:0005150)2.14008435
79Choanal stenosis (HP:0000452)2.10770660
80Flat occiput (HP:0005469)2.10056797
81Diminished movement (HP:0002374)2.08480682
82Cholelithiasis (HP:0001081)2.05838829
83Cheilitis (HP:0100825)2.04887169
84Renal tubular dysfunction (HP:0000124)2.04703063
85Chronic mucocutaneous candidiasis (HP:0002728)2.03453375
86Recurrent cutaneous fungal infections (HP:0011370)2.03453375
87Short humerus (HP:0005792)2.03326707
88Aplasia/Hypoplasia of the patella (HP:0006498)2.00601347
89Narrow nasal bridge (HP:0000446)1.99860726
90Increased number of teeth (HP:0011069)1.99274251
91Malignant hyperthermia (HP:0002047)1.97825418
92Respiratory difficulties (HP:0002880)1.95726565
93Premature graying of hair (HP:0002216)1.94493983
94Abnormal epiphyseal ossification (HP:0010656)1.93478717
95Pterygium (HP:0001059)1.90119748
96Polyuria (HP:0000103)1.86259536
97Hypokalemic alkalosis (HP:0001949)1.85342872
98Tetany (HP:0001281)1.82257672
99Easy fatigability (HP:0003388)1.80987877
100Exertional dyspnea (HP:0002875)1.80898814

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WNK48.42856917
2MAPK156.00544935
3STK395.34104475
4OXSR13.74908837
5TESK23.10453189
6ERN12.97549702
7TRIB32.45790932
8MAP2K32.31602701
9BLK2.26911767
10SIK11.69571252
11MUSK1.69134408
12ZAP701.59727553
13ICK1.52577193
14GRK61.46949493
15SMG11.40701161
16STK161.27342523
17MAP4K11.26990528
18SIK21.26375914
19EEF2K1.26280244
20PDPK11.23534600
21PRPF4B1.16156542
22PRKD31.11481791
23TLK11.05239990
24MAP3K61.03790744
25MAP2K60.98487781
26CSK0.97116154
27PRKD20.96998434
28TBK10.93610316
29CDK120.87411470
30WNK10.87298021
31BMX0.84974411
32DAPK20.84112334
33CDK60.80251779
34DYRK1B0.78658008
35CDK40.74243674
36PKN20.72424570
37MAP2K40.72314934
38MAP3K110.69211572
39ADRBK10.65119960
40PDGFRA0.64432639
41CDK150.63523329
42KDR0.60836722
43CDK11A0.59767735
44MTOR0.59586252
45RPS6KA20.59408396
46TNK20.58275389
47LATS10.56998623
48IRAK20.56162701
49CDK180.55854610
50MARK20.55306025
51RPS6KL10.54544566
52RPS6KC10.54544566
53FGFR40.54148651
54PRKD10.54118929
55RIPK40.53529130
56RPS6KA60.53127611
57MAPK110.51769994
58FES0.49991695
59ARAF0.48498440
60MAP3K10.45877461
61KSR20.45414476
62SIK30.44353156
63NEK90.41458249
64PAK10.39728066
65AKT30.38850868
66TTN0.38757866
67PRKG20.38134055
68PTK60.38017514
69MAPK120.37696689
70PDK10.37645865
71CDK140.37597534
72HIPK20.36800777
73SYK0.35843818
74CCNB10.35092032
75IRAK30.35077828
76MAP3K70.34341332
77HCK0.34245929
78RIPK10.34217215
79BTK0.33238584
80MAPK80.32435391
81MAP3K140.31430861
82MELK0.28231959
83PRKAA10.27903644
84PIM20.27883566
85CDC42BPA0.27877972
86RET0.27134253
87EPHA20.26633171
88MAP3K30.25759823
89AURKA0.25315418
90ADRBK20.25197333
91LYN0.24864159
92TGFBR20.24398282
93STK110.23700934
94PRKCH0.23592940
95JAK30.23506454
96SRC0.21453774
97IKBKB0.21240790
98DAPK10.20895395
99MAP2K10.20639600
100MAPK30.20055189

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006046.62730462
2Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001304.81680071
3Sulfur relay system_Homo sapiens_hsa041223.88101970
4Glycosaminoglycan degradation_Homo sapiens_hsa005313.85141389
5Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.50096219
6Other glycan degradation_Homo sapiens_hsa005112.97069710
7Fructose and mannose metabolism_Homo sapiens_hsa000512.66569016
8Other types of O-glycan biosynthesis_Homo sapiens_hsa005142.45478200
9Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.41683144
10Sphingolipid metabolism_Homo sapiens_hsa006002.29424045
11Ovarian steroidogenesis_Homo sapiens_hsa049131.92248896
12Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.67265749
13Lysosome_Homo sapiens_hsa041421.64149520
14Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.35379311
15VEGF signaling pathway_Homo sapiens_hsa043701.22937985
16Inositol phosphate metabolism_Homo sapiens_hsa005621.19899151
17Hedgehog signaling pathway_Homo sapiens_hsa043401.18787509
18Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.13964722
19Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.12822618
20mTOR signaling pathway_Homo sapiens_hsa041501.09015764
21Steroid hormone biosynthesis_Homo sapiens_hsa001401.05752852
22Vitamin digestion and absorption_Homo sapiens_hsa049771.00364309
23Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.96909544
24Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.94639755
25Bladder cancer_Homo sapiens_hsa052190.92095915
26Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.90624758
27Acute myeloid leukemia_Homo sapiens_hsa052210.90284415
28Notch signaling pathway_Homo sapiens_hsa043300.85134936
29Carbohydrate digestion and absorption_Homo sapiens_hsa049730.82552639
30Endocytosis_Homo sapiens_hsa041440.81652981
31Neurotrophin signaling pathway_Homo sapiens_hsa047220.79427087
32Adipocytokine signaling pathway_Homo sapiens_hsa049200.77889153
33Primary immunodeficiency_Homo sapiens_hsa053400.74658666
34Glycerophospholipid metabolism_Homo sapiens_hsa005640.74374885
35Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.72854296
36Chronic myeloid leukemia_Homo sapiens_hsa052200.71305065
37RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.71066951
38Insulin resistance_Homo sapiens_hsa049310.69699058
39Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.67594416
40Tuberculosis_Homo sapiens_hsa051520.67107485
41Jak-STAT signaling pathway_Homo sapiens_hsa046300.66921164
42Circadian rhythm_Homo sapiens_hsa047100.62975821
43Hepatitis C_Homo sapiens_hsa051600.61786941
44Non-small cell lung cancer_Homo sapiens_hsa052230.60517643
45Phosphatidylinositol signaling system_Homo sapiens_hsa040700.59959929
46B cell receptor signaling pathway_Homo sapiens_hsa046620.58201039
47Calcium signaling pathway_Homo sapiens_hsa040200.57826474
48NOD-like receptor signaling pathway_Homo sapiens_hsa046210.56551534
49Lysine degradation_Homo sapiens_hsa003100.55590512
50Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.54413658
51Taste transduction_Homo sapiens_hsa047420.53777489
52Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.52811073
53Arginine biosynthesis_Homo sapiens_hsa002200.51844065
54Osteoclast differentiation_Homo sapiens_hsa043800.49816427
55MAPK signaling pathway_Homo sapiens_hsa040100.49212105
56alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.49031871
57Melanogenesis_Homo sapiens_hsa049160.48685683
58Pancreatic cancer_Homo sapiens_hsa052120.48649570
59Insulin signaling pathway_Homo sapiens_hsa049100.46771436
60Toll-like receptor signaling pathway_Homo sapiens_hsa046200.44107692
61Phenylalanine metabolism_Homo sapiens_hsa003600.43882292
62Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.43237910
63Phospholipase D signaling pathway_Homo sapiens_hsa040720.42633128
64GnRH signaling pathway_Homo sapiens_hsa049120.42275811
65Influenza A_Homo sapiens_hsa051640.41941425
66Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.41274176
67N-Glycan biosynthesis_Homo sapiens_hsa005100.40222649
68Sphingolipid signaling pathway_Homo sapiens_hsa040710.39395942
69Platelet activation_Homo sapiens_hsa046110.38012247
70Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.37601364
712-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.37567274
72Aldosterone synthesis and secretion_Homo sapiens_hsa049250.37417343
73Hematopoietic cell lineage_Homo sapiens_hsa046400.36540822
74Galactose metabolism_Homo sapiens_hsa000520.36049709
75TNF signaling pathway_Homo sapiens_hsa046680.35792385
76ABC transporters_Homo sapiens_hsa020100.35508916
77PPAR signaling pathway_Homo sapiens_hsa033200.35304258
78Toxoplasmosis_Homo sapiens_hsa051450.35024314
79Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.34224487
80mRNA surveillance pathway_Homo sapiens_hsa030150.31134699
81Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.29435687
82Collecting duct acid secretion_Homo sapiens_hsa049660.29166522
83Basal cell carcinoma_Homo sapiens_hsa052170.28864736
84Longevity regulating pathway - mammal_Homo sapiens_hsa042110.28482899
85Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.28255997
86Endometrial cancer_Homo sapiens_hsa052130.28228120
87Fanconi anemia pathway_Homo sapiens_hsa034600.25906278
88Hippo signaling pathway_Homo sapiens_hsa043900.25171529
89Cocaine addiction_Homo sapiens_hsa050300.24574540
90Choline metabolism in cancer_Homo sapiens_hsa052310.24274471
91PI3K-Akt signaling pathway_Homo sapiens_hsa041510.23502036
92AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.23197785
93Herpes simplex infection_Homo sapiens_hsa051680.22681206
94Leishmaniasis_Homo sapiens_hsa051400.21359107
95Cyanoamino acid metabolism_Homo sapiens_hsa004600.21318616
96T cell receptor signaling pathway_Homo sapiens_hsa046600.20233147
97Apoptosis_Homo sapiens_hsa042100.20002334
98Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.19763419
99Hepatitis B_Homo sapiens_hsa051610.19183027
100Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.19148604

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