HSD17B3

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sex determination (GO:0007530)9.67522605
2fusion of sperm to egg plasma membrane (GO:0007342)9.60697095
3regulation of male gonad development (GO:2000018)8.81642703
4sex differentiation (GO:0007548)7.52549345
5plasma membrane fusion (GO:0045026)7.15881968
6cilium or flagellum-dependent cell motility (GO:0001539)6.97567189
7piRNA metabolic process (GO:0034587)6.84406754
8Leydig cell differentiation (GO:0033327)6.37361458
9anatomical structure regression (GO:0060033)6.28109512
10protein neddylation (GO:0045116)6.06512865
11sperm motility (GO:0030317)6.04462254
12thrombin receptor signaling pathway (GO:0070493)5.81693483
13acrosome assembly (GO:0001675)5.77139285
14blood coagulation, intrinsic pathway (GO:0007597)5.75483872
15adenosine receptor signaling pathway (GO:0001973)5.61508558
16male sex determination (GO:0030238)5.61245722
17triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.42559249
18synaptonemal complex assembly (GO:0007130)5.37771392
19male meiosis (GO:0007140)5.33314658
20seminiferous tubule development (GO:0072520)5.21792417
21multicellular organism reproduction (GO:0032504)5.18641959
22spermatid development (GO:0007286)5.16251670
23sperm-egg recognition (GO:0035036)5.14894441
24neutrophil activation involved in immune response (GO:0002283)5.13708827
25regulation of meiosis I (GO:0060631)5.10690575
26synaptonemal complex organization (GO:0070193)5.09371105
27regulation of female gonad development (GO:2000194)5.03196537
28regulation of integrin-mediated signaling pathway (GO:2001044)4.91332442
29erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.91331966
30L-phenylalanine catabolic process (GO:0006559)4.91331966
31regulation of gonadotropin secretion (GO:0032276)4.89301292
32epithelial cilium movement (GO:0003351)4.74749894
33binding of sperm to zona pellucida (GO:0007339)4.71448219
34negative regulation of macrophage derived foam cell differentiation (GO:0010745)4.68375388
35ovulation cycle (GO:0042698)4.66756370
36L-phenylalanine metabolic process (GO:0006558)4.62822889
37erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.62822889
38urogenital system development (GO:0001655)4.61625723
39negative regulation of norepinephrine secretion (GO:0010700)4.54240175
40cell wall macromolecule catabolic process (GO:0016998)4.52447303
41cell wall macromolecule metabolic process (GO:0044036)4.52447303
42cell-cell recognition (GO:0009988)4.51853683
43regulation of platelet aggregation (GO:0090330)4.50640072
44oocyte development (GO:0048599)4.49755863
45axonemal dynein complex assembly (GO:0070286)4.47550207
46acrosome reaction (GO:0007340)4.45055151
47DNA methylation involved in gamete generation (GO:0043046)4.38303600
48regulation of platelet activation (GO:0010543)4.37980170
49extracellular fibril organization (GO:0043206)4.34362929
50glomerular basement membrane development (GO:0032836)4.30832023
51protein heterotrimerization (GO:0070208)4.27836024
52fibrinolysis (GO:0042730)4.23449474
53platelet aggregation (GO:0070527)4.22088856
54reproduction (GO:0000003)4.19962531
55regulation of lipoprotein metabolic process (GO:0050746)4.14383814
56positive regulation of endothelial cell differentiation (GO:0045603)4.08726020
57leukocyte migration involved in inflammatory response (GO:0002523)4.05261374
58negative regulation of platelet activation (GO:0010544)4.02563983
59cilium movement (GO:0003341)3.97121424
60negative regulation of protein localization to cell surface (GO:2000009)3.93976212
61adrenal gland development (GO:0030325)3.93635292
62platelet degranulation (GO:0002576)3.93328568
63low-density lipoprotein particle remodeling (GO:0034374)3.91298930
64negative regulation of homotypic cell-cell adhesion (GO:0034111)3.90450006
65peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.89888990
66G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.87189398
67epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.82577400
68germ cell development (GO:0007281)3.82226860
69apoptotic cell clearance (GO:0043277)3.79337577
70cellular process involved in reproduction in multicellular organism (GO:0022412)3.78832543
71positive regulation of hemostasis (GO:1900048)3.76360659
72positive regulation of blood coagulation (GO:0030194)3.76360659
73spermatogenesis (GO:0007283)3.71835101
74motile cilium assembly (GO:0044458)3.71607230
75male gamete generation (GO:0048232)3.70435023
76head development (GO:0060322)3.68442678
77fibril organization (GO:0097435)3.62578084
78basement membrane organization (GO:0071711)3.61608535
79negative regulation of blood coagulation (GO:0030195)3.60016005
80negative regulation of hemostasis (GO:1900047)3.60016005
81polyamine biosynthetic process (GO:0006596)3.59569588
82negative regulation of thymocyte apoptotic process (GO:0070244)3.58768680
83lipoxygenase pathway (GO:0019372)3.54507413
84single fertilization (GO:0007338)3.54391429
85G-protein coupled purinergic receptor signaling pathway (GO:0035588)3.53437344
86relaxation of smooth muscle (GO:0044557)3.52695942
87leukotriene biosynthetic process (GO:0019370)3.51191664
88negative regulation of heart rate (GO:0010459)3.41778155
89positive regulation of coagulation (GO:0050820)3.41773154
90positive regulation of reproductive process (GO:2000243)3.40585490
91gamete generation (GO:0007276)3.39687845
92regulation of hemostasis (GO:1900046)3.37448603
93regulation of blood coagulation (GO:0030193)3.37448603
94leukotriene metabolic process (GO:0006691)3.37072296
95beta-amyloid metabolic process (GO:0050435)3.36228532
96tyrosine metabolic process (GO:0006570)3.35186623
97cellular response to gonadotropin stimulus (GO:0071371)3.34282106
98negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.33151503
99high-density lipoprotein particle remodeling (GO:0034375)3.31856169
100positive regulation of mast cell activation (GO:0033005)3.31682136
101negative regulation of coagulation (GO:0050819)3.30952546
102genitalia morphogenesis (GO:0035112)3.29822005
103endocardial cushion development (GO:0003197)3.29404002
104sperm capacitation (GO:0048240)3.29288581
105positive regulation of Rho protein signal transduction (GO:0035025)3.28646291
106regulation of cilium movement (GO:0003352)3.27635831
107angiogenesis involved in wound healing (GO:0060055)3.27284197
108regulation of norepinephrine secretion (GO:0014061)3.26481945
109regulation of macrophage derived foam cell differentiation (GO:0010743)3.25867125
110regulation of protein polyubiquitination (GO:1902914)3.25610029
111chromosome organization involved in meiosis (GO:0070192)3.23569870
112embryonic foregut morphogenesis (GO:0048617)3.23026495
113cellular response to interferon-alpha (GO:0035457)3.22586112
114glutathione metabolic process (GO:0006749)3.20997017
115cellular response to follicle-stimulating hormone stimulus (GO:0071372)3.19546117
116fibroblast migration (GO:0010761)3.19102780
117fertilization (GO:0009566)3.18025141
118positive regulation of receptor recycling (GO:0001921)3.16217654
119* androgen biosynthetic process (GO:0006702)3.14175430
120fatty acid elongation (GO:0030497)3.14103336
121gene silencing by RNA (GO:0031047)3.13171325
122positive regulation of macrophage differentiation (GO:0045651)3.12906187
123platelet activation (GO:0030168)3.12684268
124regulation of coagulation (GO:0050818)3.12482365
125reverse cholesterol transport (GO:0043691)3.11793748
126icosanoid biosynthetic process (GO:0046456)3.09954967
127fatty acid derivative biosynthetic process (GO:1901570)3.09954967
128purinergic nucleotide receptor signaling pathway (GO:0035590)3.08825794
129peptide catabolic process (GO:0043171)3.06750025
130regulation of oxidative phosphorylation (GO:0002082)3.06452942
131glucocorticoid biosynthetic process (GO:0006704)3.06410785
132purinergic receptor signaling pathway (GO:0035587)3.05915326
133meiotic nuclear division (GO:0007126)3.04088795
134positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.02080089
135astrocyte development (GO:0014002)3.01340592
136male meiosis I (GO:0007141)3.00733283
137negative regulation of appetite (GO:0032099)3.00493174
138negative regulation of response to food (GO:0032096)3.00493174
139positive regulation of systemic arterial blood pressure (GO:0003084)3.00341694
140negative regulation of macrophage differentiation (GO:0045650)3.00327208
141gonadal mesoderm development (GO:0007506)27.5420433
142peripheral nervous system axon ensheathment (GO:0032292)2.99767452
143myelination in peripheral nervous system (GO:0022011)2.99767452
144long-chain fatty acid biosynthetic process (GO:0042759)2.96725769
145ventricular system development (GO:0021591)2.95802966
146regulation of homotypic cell-cell adhesion (GO:0034110)2.95576954
147regulation of cardioblast differentiation (GO:0051890)2.93264220
148epithelial cell fate commitment (GO:0072148)2.92905895
149negative regulation of retinoic acid receptor signaling pathway (GO:0048387)2.92257898
150negative regulation of wound healing (GO:0061045)2.90213901
151negative regulation of heart contraction (GO:0045822)2.90205952
152atrioventricular valve morphogenesis (GO:0003181)2.89399287
153negative regulation of DNA repair (GO:0045738)2.88022249
154mitochondrial calcium ion transport (GO:0006851)2.86441102
155female gonad development (GO:0008585)2.84805833
156vagina development (GO:0060068)2.84355540
157negative regulation of neural precursor cell proliferation (GO:2000178)2.84192053
158neutrophil activation (GO:0042119)2.84119862
159homotypic cell-cell adhesion (GO:0034109)2.80996542
160multicellular organismal reproductive process (GO:0048609)2.79851654
161negative regulation of catecholamine secretion (GO:0033604)2.77950565
162cyclooxygenase pathway (GO:0019371)2.76002023
163positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)2.75458906
164regulation of female receptivity (GO:0045924)2.74918120
165monoubiquitinated protein deubiquitination (GO:0035520)2.73989552
166male gonad development (GO:0008584)2.73059612
167growth hormone secretion (GO:0030252)2.68723403
168negative regulation of metanephros development (GO:0072217)2.68048012
169diaphragm development (GO:0060539)2.67762430
170regulation of receptor recycling (GO:0001919)2.67525655
171xenobiotic catabolic process (GO:0042178)2.67144824
172synaptic vesicle docking involved in exocytosis (GO:0016081)2.66600324
173fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.65861883
174glomerular filtration (GO:0003094)2.65025212
175natural killer cell differentiation (GO:0001779)2.64813792
176regulation of endothelial cell differentiation (GO:0045601)2.63940552
177negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.62846828
178negative regulation of calcium ion transmembrane transport (GO:1903170)2.62846828
179positive regulation of meiosis (GO:0045836)2.62753522
180nuclear pore complex assembly (GO:0051292)2.62564718
181positive regulation of hormone biosynthetic process (GO:0046886)2.62512306
182peptidyl-glutamic acid carboxylation (GO:0017187)2.61506290
183protein carboxylation (GO:0018214)2.61506290
184protein maturation by protein folding (GO:0022417)2.60523095
185establishment of nucleus localization (GO:0040023)2.58874030
186positive regulation of cAMP-mediated signaling (GO:0043950)2.57845597
187multicellular organismal aging (GO:0010259)2.57428401
188positive regulation of wound healing (GO:0090303)2.56496278
189regulation of wound healing (GO:0061041)2.56283932
190response to follicle-stimulating hormone (GO:0032354)2.55577857
191protein polymerization (GO:0051258)2.55116570
192Sertoli cell development (GO:0060009)2.54316172
193gonad development (GO:0008406)2.53540371
194response to methylmercury (GO:0051597)2.53037031
195aromatic amino acid family catabolic process (GO:0009074)2.52638589
196maintenance of protein location in nucleus (GO:0051457)2.52554654
197platelet formation (GO:0030220)2.50226333
198positive regulation of male gonad development (GO:2000020)10.1462082

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1STAT6_21828071_ChIP-Seq_BEAS2B_Human6.82839860
2MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse6.10133945
3BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.85672210
4EZH2_22144423_ChIP-Seq_EOC_Human3.72132700
5ZFP322A_24550733_ChIP-Seq_MESCs_Mouse3.70428367
6PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse3.66454221
7LYL1_20887958_ChIP-Seq_HPC-7_Mouse3.09901305
8IKZF1_21737484_ChIP-ChIP_HCT116_Human2.73582406
9GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.63339814
10SRY_22984422_ChIP-ChIP_TESTIS_Rat2.57440207
11GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.52934546
12SCL_19346495_ChIP-Seq_HPC-7_Human2.52814264
13GATA2_21666600_ChIP-Seq_HMVEC_Human2.49656418
14GATA1_19941826_ChIP-Seq_K562_Human2.49551031
15RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.31290297
16ESR1_20079471_ChIP-ChIP_T-47D_Human2.26192662
17ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.23505049
18GATA1_19941827_ChIP-Seq_MEL_Mouse2.18349898
19GATA2_19941826_ChIP-Seq_K562_Human2.12359391
20LMO2_20887958_ChIP-Seq_HPC-7_Mouse2.11283178
21SPI1_23127762_ChIP-Seq_K562_Human2.09344859
22Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.01483837
23FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.00402071
24RARG_19884340_ChIP-ChIP_MEFs_Mouse1.96811692
25RXR_22158963_ChIP-Seq_LIVER_Mouse1.94582160
26MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.93972180
27CBX2_27304074_Chip-Seq_ESCs_Mouse1.91893014
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.85307208
29GATA1_26923725_Chip-Seq_HPCs_Mouse1.81095066
30EGR1_23403033_ChIP-Seq_LIVER_Mouse1.79297529
31ZNF274_21170338_ChIP-Seq_K562_Hela1.75928434
32GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.67505761
33MYB_21317192_ChIP-Seq_ERMYB_Mouse1.67246733
34LXR_22158963_ChIP-Seq_LIVER_Mouse1.64738955
35TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.64604977
36GBX2_23144817_ChIP-Seq_PC3_Human1.64445637
37FOXM1_23109430_ChIP-Seq_U2OS_Human1.62152435
38GATA1_22383799_ChIP-Seq_G1ME_Mouse1.60840281
39HTT_18923047_ChIP-ChIP_STHdh_Human1.57362210
40ZNF263_19887448_ChIP-Seq_K562_Human1.56082559
41FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.55845426
42DROSHA_22980978_ChIP-Seq_HELA_Human1.53561843
43IRF8_21731497_ChIP-ChIP_J774_Mouse1.52833443
44IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.52803287
45SOX2_20726797_ChIP-Seq_SW620_Human1.45228411
46EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.42038438
47ISL1_27105846_Chip-Seq_CPCs_Mouse1.41374235
48JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.38483993
49CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.38402014
50HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.37720975
51ZFP281_18757296_ChIP-ChIP_E14_Mouse1.36169109
52NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.34533546
53THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.33443035
54RNF2_27304074_Chip-Seq_NSC_Mouse1.33182923
55* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.33103210
56EP300_21415370_ChIP-Seq_HL-1_Mouse1.32853223
57MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.31878403
58SMAD4_21741376_ChIP-Seq_EPCs_Human1.30295146
59PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.29116127
60EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.28142430
61RUNX1_22412390_ChIP-Seq_EML_Mouse1.28032766
62SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.27834838
63NRF2_20460467_ChIP-Seq_MEFs_Mouse1.27344916
64NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.27344916
65WDR5_24793694_ChIP-Seq_LNCAP_Human1.27273234
66PPARA_22158963_ChIP-Seq_LIVER_Mouse1.26964345
67JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.26907610
68ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.25826736
69CDX2_19796622_ChIP-Seq_MESCs_Mouse1.25806248
70SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.24133646
71RBPJ_22232070_ChIP-Seq_NCS_Mouse1.23891472
72TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.23112062
73TP53_22127205_ChIP-Seq_IMR90_Human1.22075227
74GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21226944
75BP1_19119308_ChIP-ChIP_Hs578T_Human1.20690272
76TBX20_22080862_ChIP-Seq_HEART_Mouse1.20274830
77TBX20_22328084_ChIP-Seq_HEART_Mouse1.20274830
78NFIB_24661679_ChIP-Seq_LUNG_Mouse1.19217624
79* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.18697263
80KDM2B_26808549_Chip-Seq_K562_Human1.18181438
81ESR2_21235772_ChIP-Seq_MCF-7_Human1.17565401
82RUNX1_27514584_Chip-Seq_MCF-7_Human1.16662468
83ELK4_26923725_Chip-Seq_MESODERM_Mouse1.16292548
84WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.15294622
85RNF2_27304074_Chip-Seq_ESCs_Mouse1.14514993
86RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.13926500
87SPI1_20517297_ChIP-Seq_HL60_Human1.13629747
88GATA1_19941827_ChIP-Seq_MEL86_Mouse1.13062445
89STAT1_20625510_ChIP-Seq_HELA_Human1.12782229
90PPAR_26484153_Chip-Seq_NCI-H1993_Human1.12330762
91TCF7_22412390_ChIP-Seq_EML_Mouse1.12297370
92TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.11741635
93ZFP281_27345836_Chip-Seq_ESCs_Mouse1.10530293
94KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.09968009
95IRF8_27001747_Chip-Seq_BMDM_Mouse1.09234966
96MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.08448956
97GATA4_25053715_ChIP-Seq_YYC3_Human1.07697223
98FOXO3_23340844_ChIP-Seq_DLD1_Human1.07085008
99RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.06777135
100TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05488891
101TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.05236147
102KDM2B_26808549_Chip-Seq_DND41_Human1.03702701
103GF1_26923725_Chip-Seq_HPCs_Mouse1.02815405
104* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.02484937
105TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.02260261
106CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01647749
107PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.00617549
108STAT1_17558387_ChIP-Seq_HELA_Human0.99688521
109TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.99187479
110KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.98912966
111RAD21_21589869_ChIP-Seq_MESCs_Mouse0.97635883
112MYC_27129775_Chip-Seq_CORNEA_Mouse0.97258696
113IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.97096912
114CREB1_26743006_Chip-Seq_LNCaP_Human0.97043454
115EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.96984091
116TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.95826576
117RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.95493718
118SOX2_27498859_Chip-Seq_STOMACH_Mouse0.95359948
119FOXA2_19822575_ChIP-Seq_HepG2_Human0.95311772
120SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94792992
121ZNF217_24962896_ChIP-Seq_MCF-7_Human0.93775710
122CDX2_20551321_ChIP-Seq_CACO-2_Human0.92944964
123STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.92848941
124KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.92845167
125KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.92845167
126KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.92845167
127SOX11_22085726_ChIP-Seq_ESNs_Mouse0.91604025
128CBP_20019798_ChIP-Seq_JUKART_Human0.91603958
129IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.91603958
130FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.90482652
131* OCT1_27270436_Chip-Seq_PROSTATE_Human0.90325385
132SMAD3_21741376_ChIP-Seq_ESCs_Human0.90137500
133PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.90125653
134PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.89811174
135TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.89683222
136CLOCK_20551151_ChIP-Seq_293T_Human0.89356393
137CTCF_27219007_Chip-Seq_Bcells_Human0.89290135
138SUZ12_27294783_Chip-Seq_ESCs_Mouse0.89149912
139KDM2B_26808549_Chip-Seq_REH_Human0.88637215
140MTF2_20144788_ChIP-Seq_MESCs_Mouse0.88481907
141GATA1_22025678_ChIP-Seq_K562_Human0.88466711
142TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.88086528
143STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.87967933
144BCAT_22108803_ChIP-Seq_LS180_Human0.87516615
145VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.86211528
146TCF4_18268006_ChIP-ChIP_LS174T_Human0.85676050
147RUNX_20019798_ChIP-Seq_JUKART_Human0.84974130
148FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.84847806
149KDM2B_26808549_Chip-Seq_SUP-B15_Human0.84660518
150SALL4_18804426_ChIP-ChIP_XEN_Mouse0.84480204
151NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.84197846
152* CJUN_26792858_Chip-Seq_BT549_Human0.83367337
153EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.82965322
154AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.81549213
155IGF1R_20145208_ChIP-Seq_DFB_Human0.81378172
156SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.81326394
157NANOG_20526341_ChIP-Seq_ESCs_Human0.80208796
158SALL4_22934838_ChIP-ChIP_CD34+_Human0.79755189
159OCT4_19829295_ChIP-Seq_ESCs_Human0.79690201
160EZH2_18974828_ChIP-Seq_MESCs_Mouse0.78839486
161RNF2_18974828_ChIP-Seq_MESCs_Mouse0.78839486
162ERG_20517297_ChIP-Seq_VCAP_Human0.78466166
163ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.78415977
164SA1_22415368_ChIP-Seq_MEFs_Mouse0.77529959
165TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.77417388
166SMAD3_21741376_ChIP-Seq_HESCs_Human0.77270447
167KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.77256650
168GATA2_22383799_ChIP-Seq_G1ME_Mouse0.77246040
169STAT4_19710469_ChIP-ChIP_TH1__Mouse0.75625688
170CDX2_22108803_ChIP-Seq_LS180_Human0.75586679
171* TP63_23658742_ChIP-Seq_EP156T_Human0.74887418
172ARNT_22903824_ChIP-Seq_MCF-7_Human0.74839938
173FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.74798290
174SALL1_21062744_ChIP-ChIP_HESCs_Human0.74335185
175SMAD4_21799915_ChIP-Seq_A2780_Human0.74014976
176* TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.74009467
177BCOR_27268052_Chip-Seq_Bcells_Human0.73687731
178EZH2_27304074_Chip-Seq_ESCs_Mouse0.73481987
179PCGF2_27294783_Chip-Seq_ESCs_Mouse0.73184173
180HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.72966127
181TAF15_26573619_Chip-Seq_HEK293_Human0.72826722
182EZH2_27294783_Chip-Seq_ESCs_Mouse0.72729383
183* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.72548566
184PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.71884554
185TCF4_22108803_ChIP-Seq_LS180_Human0.71884207
186SOX9_24532713_ChIP-Seq_HFSC_Mouse0.71698636

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005464_abnormal_platelet_physiology8.24015193
2MP0008995_early_reproductive_senescence6.96984503
3MP0005410_abnormal_fertilization6.34197601
4MP0008004_abnormal_stomach_pH4.50951698
5MP0005377_hearing/vestibular/ear_phenot3.82955403
6MP0003878_abnormal_ear_physiology3.82955403
7MP0008877_abnormal_DNA_methylation3.68562505
8MP0003195_calcinosis3.53373095
9MP0005623_abnormal_meninges_morphology3.43706566
10MP0001958_emphysema3.18096389
11MP0001929_abnormal_gametogenesis3.06463287
12MP0003698_abnormal_male_reproductive3.03937224
13MP0004510_myositis2.96990301
14MP0002210_abnormal_sex_determination2.83749911
15MP0009384_cardiac_valve_regurgitation2.80459503
16MP0005058_abnormal_lysosome_morphology2.74953066
17MP0003828_pulmonary_edema2.59376023
18MP0004272_abnormal_basement_membrane2.58954056
19MP0003045_fibrosis2.53465865
20MP0008438_abnormal_cutaneous_collagen2.52457275
21MP0001661_extended_life_span2.50282847
22MP0000343_altered_response_to2.44592418
23MP0000465_gastrointestinal_hemorrhage2.42920956
24MP0001145_abnormal_male_reproductive2.42763851
25MP0003786_premature_aging2.40301620
26MP0005360_urolithiasis2.29418869
27MP0000751_myopathy2.27487720
28MP0003724_increased_susceptibility_to2.24516580
29MP0003315_abnormal_perineum_morphology2.17064392
30MP0003566_abnormal_cell_adhesion2.12012778
31MP0005503_abnormal_tendon_morphology2.07763471
32MP0003115_abnormal_respiratory_system2.07577877
33MP0005647_abnormal_sex_gland2.06833543
34MP0005365_abnormal_bile_salt1.99653622
35MP0000653_abnormal_sex_gland1.94325985
36MP0002102_abnormal_ear_morphology1.88653638
37MP0002168_other_aberrant_phenotype1.87356239
38MP0002132_abnormal_respiratory_system1.87152148
39MP0002160_abnormal_reproductive_system1.86065040
40MP0009278_abnormal_bone_marrow1.83363054
41MP0000230_abnormal_systemic_arterial1.79631297
42MP0003638_abnormal_response/metabolism_1.71388475
43MP0002736_abnormal_nociception_after1.71021786
44MP0005085_abnormal_gallbladder_physiolo1.68005794
45MP0002161_abnormal_fertility/fecundity1.61404659
46MP0000569_abnormal_digit_pigmentation1.58955966
47MP0010329_abnormal_lipoprotein_level1.57700483
48MP0001879_abnormal_lymphatic_vessel1.49977747
49MP0005646_abnormal_pituitary_gland1.49710322
50MP0008872_abnormal_physiological_respon1.47708654
51MP0005083_abnormal_biliary_tract1.47379916
52MP0005165_increased_susceptibility_to1.43741222
53MP0003879_abnormal_hair_cell1.43541606
54MP0010368_abnormal_lymphatic_system1.42640102
55MP0008775_abnormal_heart_ventricle1.41770272
56MP0003075_altered_response_to1.41373880
57MP0003941_abnormal_skin_development1.38919491
58MP0000858_altered_metastatic_potential1.37984014
59MP0002282_abnormal_trachea_morphology1.35505120
60MP0005409_darkened_coat_color1.34341471
61MP0010155_abnormal_intestine_physiology1.33957004
62MP0008875_abnormal_xenobiotic_pharmacok1.33479406
63MP0005167_abnormal_blood-brain_barrier1.32710374
64MP0005171_absent_coat_pigmentation1.32299816
65MP0003656_abnormal_erythrocyte_physiolo1.32184880
66MP0005076_abnormal_cell_differentiation1.31768113
67MP0000249_abnormal_blood_vessel1.31621010
68MP0004233_abnormal_muscle_weight1.30339119
69MP0003191_abnormal_cellular_cholesterol1.30100203
70MP0003936_abnormal_reproductive_system1.29502592
71MP0003705_abnormal_hypodermis_morpholog1.29136933
72MP0005670_abnormal_white_adipose1.28719433
73MP0005023_abnormal_wound_healing1.23909585
74MP0009379_abnormal_foot_pigmentation1.23846272
75MP0005397_hematopoietic_system_phenotyp1.22723078
76MP0001545_abnormal_hematopoietic_system1.22723078
77MP0003183_abnormal_peptide_metabolism1.21570186
78MP0008260_abnormal_autophagy1.21098094
79MP0002653_abnormal_ependyma_morphology1.20147472
80MP0003123_paternal_imprinting1.19804940
81MP0001851_eye_inflammation1.19680194
82MP0001835_abnormal_antigen_presentation1.18550958
83MP0003303_peritoneal_inflammation1.15825281
84MP0008874_decreased_physiological_sensi1.14750470
85MP0004134_abnormal_chest_morphology1.13838859
86MP0001968_abnormal_touch/_nociception1.12926301
87MP0001663_abnormal_digestive_system1.12170811
88MP0005389_reproductive_system_phenotype1.11787788
89MP0002332_abnormal_exercise_endurance1.11193001
90MP0000639_abnormal_adrenal_gland1.09901310
91MP0006138_congestive_heart_failure1.09832880
92MP0009697_abnormal_copulation1.08219974
93MP0004215_abnormal_myocardial_fiber1.07824332
94MP0003119_abnormal_digestive_system1.07077479
95MP0001666_abnormal_nutrient_absorption1.05920566
96MP0003122_maternal_imprinting1.05699770
97MP0009763_increased_sensitivity_to1.04762438
98MP0004130_abnormal_muscle_cell1.03671074
99MP0009764_decreased_sensitivity_to1.01268427
100MP0000534_abnormal_ureter_morphology1.00710641
101MP0003942_abnormal_urinary_system1.00278328
102MP0006054_spinal_hemorrhage0.99945479
103MP0009840_abnormal_foam_cell0.99617108
104MP0002108_abnormal_muscle_morphology0.98519263
105MP0002118_abnormal_lipid_homeostasis0.97791131
106MP0002733_abnormal_thermal_nociception0.97119939
107MP0003091_abnormal_cell_migration0.96024824
108MP0009642_abnormal_blood_homeostasis0.95920733
109MP0002148_abnormal_hypersensitivity_rea0.95365173
110MP0003436_decreased_susceptibility_to0.94583000
111MP0003385_abnormal_body_wall0.93342220
112MP0005248_abnormal_Harderian_gland0.92966415
113MP0002972_abnormal_cardiac_muscle0.92227653
114MP0000428_abnormal_craniofacial_morphol0.90342938
115MP0005666_abnormal_adipose_tissue0.88889486
116MP0010386_abnormal_urinary_bladder0.88589286
117MP0006036_abnormal_mitochondrial_physio0.87628371
118MP0009333_abnormal_splenocyte_physiolog0.86696110
119MP0001664_abnormal_digestion0.86666719
120MP0005535_abnormal_body_temperature0.86161329
121MP0005166_decreased_susceptibility_to0.86071570
122MP0001765_abnormal_ion_homeostasis0.84864703
123MP0005395_other_phenotype0.84639412
124MP0009053_abnormal_anal_canal0.84439562
125MP0001533_abnormal_skeleton_physiology0.83129392
126MP0009780_abnormal_chondrocyte_physiolo0.82916049
127MP0001756_abnormal_urination0.81645855
128MP0003453_abnormal_keratinocyte_physiol0.80078986
129MP0005164_abnormal_response_to0.79394286
130MP0009765_abnormal_xenobiotic_induced0.79253334
131MP0005000_abnormal_immune_tolerance0.78970851
132MP0002998_abnormal_bone_remodeling0.78889976
133MP0005084_abnormal_gallbladder_morpholo0.77914019
134MP0003300_gastrointestinal_ulcer0.76816008
135MP0004947_skin_inflammation0.75401514
136MP0001970_abnormal_pain_threshold0.74220074
137MP0005584_abnormal_enzyme/coenzyme_acti0.72959052
138MP0002139_abnormal_hepatobiliary_system0.72887031
139MP0004197_abnormal_fetal_growth/weight/0.71155523
140MP0003121_genomic_imprinting0.70574855
141MP0004085_abnormal_heartbeat0.70267737
142MP0002877_abnormal_melanocyte_morpholog0.69658969
143MP0001905_abnormal_dopamine_level0.69414956
144MP0004484_altered_response_of0.68657449
145MP0000631_abnormal_neuroendocrine_gland0.67313235
146MP0001119_abnormal_female_reproductive0.67257750
147MP0004084_abnormal_cardiac_muscle0.66990543
148MP0003283_abnormal_digestive_organ0.65598043
149MP0004147_increased_porphyrin_level0.64744711
150MP0004145_abnormal_muscle_electrophysio0.62408400
151MP0001727_abnormal_embryo_implantation0.60591568
152MP0002092_abnormal_eye_morphology0.60462813
153MP0000467_abnormal_esophagus_morphology0.60282782
154MP0003935_abnormal_craniofacial_develop0.60269233
155MP0000537_abnormal_urethra_morphology0.59045400
156MP0002896_abnormal_bone_mineralization0.58359467
157MP0002128_abnormal_blood_circulation0.57694267
158MP0003632_abnormal_nervous_system0.57290784
159MP0002084_abnormal_developmental_patter0.56998035
160MP0004742_abnormal_vestibular_system0.56804635
161MP0004036_abnormal_muscle_relaxation0.56093311
162MP0000733_abnormal_muscle_development0.55272680
163MP0001340_abnormal_eyelid_morphology0.55048371
164MP0001730_embryonic_growth_arrest0.54183979
165MP0005275_abnormal_skin_tensile0.52223574
166MP0002938_white_spotting0.51938046
167MP0004858_abnormal_nervous_system0.50405809
168MP0000462_abnormal_digestive_system0.49724109
169MP0010307_abnormal_tumor_latency0.48651085
170MP0000383_abnormal_hair_follicle0.48583785
171MP0002697_abnormal_eye_size0.48232141
172MP0005388_respiratory_system_phenotype0.48149689
173MP0002133_abnormal_respiratory_system0.48149689
174MP0000470_abnormal_stomach_morphology0.48109565
175MP0002089_abnormal_postnatal_growth/wei0.47056225
176MP0002233_abnormal_nose_morphology0.46729408
177MP0005408_hypopigmentation0.46600481
178MP0002115_abnormal_skeleton_extremities0.45948955
179MP0002127_abnormal_cardiovascular_syste0.45350884
180MP0003866_abnormal_defecation0.45289787
181MP0003699_abnormal_female_reproductive0.44738175

Predicted human phenotypes

RankGene SetZ-score
1Male infertility (HP:0003251)9.98990145
2Menorrhagia (HP:0000132)9.31851136
3Gonadal dysgenesis (HP:0000133)9.28649433
4Prolonged bleeding time (HP:0003010)9.08185731
5Increased mean platelet volume (HP:0011877)8.11507250
6Purpura (HP:0000979)7.73046366
7Abnormal platelet volume (HP:0011876)7.53430702
8Petechiae (HP:0000967)7.50417510
9Epistaxis (HP:0000421)6.46774950
10Absent/shortened dynein arms (HP:0200106)6.26387940
11Dynein arm defect of respiratory motile cilia (HP:0012255)6.26387940
12Respiratory insufficiency due to defective ciliary clearance (HP:0200073)6.21211351
13Ankle contracture (HP:0006466)6.06895967
14Gingival bleeding (HP:0000225)5.79100732
15Testicular neoplasm (HP:0010788)5.68521746
16Gonadotropin excess (HP:0000837)5.59628680
17* Male pseudohermaphroditism (HP:0000037)5.47292881
18Hyperlipoproteinemia (HP:0010980)5.28387348
19Abnormal sex determination (HP:0012244)5.27676652
20Sex reversal (HP:0012245)5.27676652
21Impaired platelet aggregation (HP:0003540)5.11642580
22Abnormal platelet function (HP:0011869)5.11642580
23* Infertility (HP:0000789)4.94030002
24Azoospermia (HP:0000027)4.73825640
25Abnormality of male internal genitalia (HP:0000022)4.52303868
26Protrusio acetabuli (HP:0003179)4.29233282
27Abnormal spermatogenesis (HP:0008669)4.25681652
28Abnormal respiratory motile cilium physiology (HP:0012261)4.13724821
29Abnormal respiratory motile cilium morphology (HP:0005938)3.88348014
30Abnormal respiratory epithelium morphology (HP:0012253)3.88348014
31Joint hemorrhage (HP:0005261)3.71063464
32Abnormality of the common coagulation pathway (HP:0010990)3.70833159
33Xanthomatosis (HP:0000991)3.63394883
34Rectal prolapse (HP:0002035)3.59567822
35Hypoplasia of the uterus (HP:0000013)3.51897306
36Acanthocytosis (HP:0001927)3.46870613
37Poikilocytosis (HP:0004447)3.40361055
38Follicular hyperkeratosis (HP:0007502)3.39428225
39Germ cell neoplasia (HP:0100728)3.34610820
40Secondary amenorrhea (HP:0000869)3.32599074
41Abnormal ciliary motility (HP:0012262)3.29617489
42Abnormal pupillary function (HP:0007686)3.20096983
43Bladder diverticulum (HP:0000015)3.18583139
44Rhinitis (HP:0012384)3.15108624
45Type 1 muscle fiber predominance (HP:0003803)2.97354384
46Chronic bronchitis (HP:0004469)2.97078612
47Spontaneous hematomas (HP:0007420)2.95949698
48Bruising susceptibility (HP:0000978)2.94147657
49Vascular calcification (HP:0004934)2.88331856
50Abnormality of aromatic amino acid family metabolism (HP:0004338)2.87860892
51Dyschromatopsia (HP:0007641)2.84910000
52Conjunctival telangiectasia (HP:0000524)2.84844684
53Renovascular hypertension (HP:0100817)2.69909060
54Tongue fasciculations (HP:0001308)2.69376107
55Cerebral aneurysm (HP:0004944)2.69034026
56Nasal polyposis (HP:0100582)2.66996306
57Abnormality of the lower motor neuron (HP:0002366)2.66923284
58Upper limb muscle weakness (HP:0003484)2.62342156
59Abnormal auditory evoked potentials (HP:0006958)2.61690478
60Primary amenorrhea (HP:0000786)2.61347388
61Pulmonary fibrosis (HP:0002206)2.59700420
62Hypoplastic left heart (HP:0004383)2.57505621
63Nausea (HP:0002018)2.56686917
64Slender build (HP:0001533)2.56080893
65Joint swelling (HP:0001386)2.53907472
66Hypoventilation (HP:0002791)2.51039169
67Abnormality of dentin (HP:0010299)2.48132175
68Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.47102792
69Selective tooth agenesis (HP:0001592)2.46099061
70Cardiovascular calcification (HP:0011915)2.46041227
71Abnormality of the nasal mucosa (HP:0000433)2.44990964
72Muscle fibrillation (HP:0010546)2.44728217
73Abnormality of the vasculature of the conjunctiva (HP:0008054)2.43121570
74Limb-girdle muscle weakness (HP:0003325)2.41641688
75Paralysis (HP:0003470)2.38287708
76Abnormality of lateral ventricle (HP:0030047)2.35423618
77Ventricular fibrillation (HP:0001663)2.35038022
78Short 4th metacarpal (HP:0010044)2.34758158
79Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.34758158
80Abnormality of the heme biosynthetic pathway (HP:0010472)2.32791530
81Increased variability in muscle fiber diameter (HP:0003557)2.28150776
82Mitral stenosis (HP:0001718)2.25338773
83Generalized aminoaciduria (HP:0002909)2.25227043
84Spontaneous abortion (HP:0005268)2.23777325
85Myocardial infarction (HP:0001658)2.23195668
86Aplasia/hypoplasia of the uterus (HP:0008684)2.23193399
87Premature rupture of membranes (HP:0001788)2.17282607
88Abnormality of the Achilles tendon (HP:0005109)2.14009752
89Transposition of the great arteries (HP:0001669)2.13338857
90Abnormal connection of the cardiac segments (HP:0011545)2.13338857
91Abnormal ventriculo-arterial connection (HP:0011563)2.13338857
92Polycystic ovaries (HP:0000147)2.11584824
93Distal lower limb amyotrophy (HP:0008944)2.11526724
94Spinal rigidity (HP:0003306)2.10779207
95Hepatosplenomegaly (HP:0001433)2.08985893
96Absent frontal sinuses (HP:0002688)2.05584249
97Systemic lupus erythematosus (HP:0002725)2.05405812
98Premature ovarian failure (HP:0008209)2.05134332
99Aortic dissection (HP:0002647)2.04776396
100Arachnodactyly (HP:0001166)2.03654016
101Hemorrhage of the eye (HP:0011885)2.00604503
102Abnormality of the 4th metacarpal (HP:0010012)1.99867288
103Mildly elevated creatine phosphokinase (HP:0008180)1.99140844
104Abnormality of monocarboxylic acid metabolism (HP:0010996)1.96834401
105Distal lower limb muscle weakness (HP:0009053)1.95305416
106Ovarian neoplasm (HP:0100615)1.94833979
107Atrophic scars (HP:0001075)1.94824110
108Complement deficiency (HP:0004431)1.94113131
109Neonatal short-limb short stature (HP:0008921)1.92625521
110Amyloidosis (HP:0011034)1.91800671
11111 pairs of ribs (HP:0000878)1.90666742
112Renal duplication (HP:0000075)1.90457218
113Hypoplastic heart (HP:0001961)1.89776296
114Fibular hypoplasia (HP:0003038)1.89678308
115Degeneration of the lateral corticospinal tracts (HP:0002314)1.88828163
116Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.88828163
117Diaphragmatic weakness (HP:0009113)1.87906484
118Abnormality of skeletal muscle fiber size (HP:0012084)1.86960870
119Mesangial abnormality (HP:0001966)1.86640600
120Increased connective tissue (HP:0009025)1.85713006
121Arthropathy (HP:0003040)1.83538320
122Hand muscle atrophy (HP:0009130)1.81970126
123Occipital encephalocele (HP:0002085)1.81274895
124Nephronophthisis (HP:0000090)1.79280897
125Hyperacusis (HP:0010780)1.78428170
126Decreased central vision (HP:0007663)1.78194253
127Stage 5 chronic kidney disease (HP:0003774)1.77831150
128Broad metatarsal (HP:0001783)1.77581280
129Fragile skin (HP:0001030)1.76848576
130Soft skin (HP:0000977)1.76781679
131Abnormality of complement system (HP:0005339)1.76600089
132Dysautonomia (HP:0002459)1.76262237
133Pulmonary artery stenosis (HP:0004415)1.76174891
134Inguinal hernia (HP:0000023)1.75983558
135Dysostosis multiplex (HP:0000943)1.74840771
136Bronchitis (HP:0012387)1.74654323
137Back pain (HP:0003418)1.74351330
138Joint laxity (HP:0001388)1.71331332
139Aortic aneurysm (HP:0004942)1.71243182
140Abnormality of iron homeostasis (HP:0011031)1.69871768
141Mitral valve prolapse (HP:0001634)1.69492638
142Ileus (HP:0002595)1.69431149
143Deformed sella turcica (HP:0002681)1.69144080
144Neoplasm of the heart (HP:0100544)1.68454734
145Bronchiectasis (HP:0002110)1.67914291
146Abnormality of macrophages (HP:0004311)1.66749675
147Stridor (HP:0010307)1.65124983
148Deep venous thrombosis (HP:0002625)1.64363355
149Flat cornea (HP:0007720)1.61380299
150Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.61322690
151Lower limb amyotrophy (HP:0007210)1.60961110
152Bronchomalacia (HP:0002780)1.60765896
153Increased IgM level (HP:0003496)1.60129368
154Clumsiness (HP:0002312)1.59310579
155Thin bony cortex (HP:0002753)1.57115894
156Abnormality of binocular vision (HP:0011514)1.56937592
157Diplopia (HP:0000651)1.56937592
158Hypertriglyceridemia (HP:0002155)1.56658579
159Facial diplegia (HP:0001349)1.55771674
160Prolonged partial thromboplastin time (HP:0003645)1.55521161
161Insomnia (HP:0100785)1.54930999
162Increased serum ferritin (HP:0003281)1.53371455
163Hypophosphatemic rickets (HP:0004912)1.53356850
164Shallow orbits (HP:0000586)1.53033397
165Metaphyseal cupping (HP:0003021)1.52989084
166Supernumerary ribs (HP:0005815)1.51960877
167Proximal placement of thumb (HP:0009623)1.50964900
168Mitral regurgitation (HP:0001653)1.49370228
169Distal upper limb amyotrophy (HP:0007149)1.49197375
170Upper limb amyotrophy (HP:0009129)1.49197375
171Elfin facies (HP:0004428)1.48418774
172Glomerulonephritis (HP:0000099)1.46933591
173Tinnitus (HP:0000360)1.44526919
174Polycythemia (HP:0001901)1.43936311
175Rickets (HP:0002748)1.42013758
176Increased density of long bones (HP:0006392)1.41290589
177Muscle fiber splitting (HP:0003555)1.41278033
178Cerebral inclusion bodies (HP:0100314)1.40546014

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST45.01873382
2TYRO34.93314197
3PRKD33.71671555
4RIPK43.71149202
5LATS13.54671349
6ICK3.39339126
7PDK33.33346405
8PDK43.33346405
9TRIB33.31486624
10PDGFRA2.93724966
11RIPK12.81037278
12TESK12.66344466
13CDK122.64425867
14DAPK22.46631616
15GRK52.44244041
16CDK72.34771202
17TESK22.19427164
18ILK2.12057002
19BTK2.10189057
20PTK62.01084904
21TEC1.93086391
22ARAF1.78213663
23EIF2AK11.77472216
24MARK31.75625144
25PTK2B1.70670620
26WNK41.68386539
27PDK21.66391753
28STK31.66275636
29MAP3K41.65679227
30EEF2K1.65126647
31NEK21.61998965
32PIM21.61902938
33WNK11.61565821
34CSF1R1.60450054
35CAMK1G1.55349960
36PIK3CG1.54323341
37LMTK21.50447049
38BMPR21.48128509
39PNCK1.47897589
40PINK11.46411252
41BLK1.46288176
42CDK41.44109296
43SYK1.43480926
44FGR1.42480285
45ZAP701.40006524
46MAPKAPK31.38286543
47LATS21.31190288
48PKN21.27782952
49MYLK1.27669783
50MAP3K121.27480421
51WEE11.26644474
52PASK1.25015483
53STK391.23759933
54TAOK31.18508170
55ACVR1B1.16608615
56TAOK21.15790443
57PAK21.14647938
58TTN1.13362474
59STK381.10804606
60PDGFRB1.08437295
61MTOR1.07271167
62CAMK1D1.06442973
63MAP3K31.04989232
64MAP3K101.03215065
65STK38L1.02181817
66GRK61.01274899
67TLK11.01202795
68PRKD11.00731714
69PLK20.98868712
70HCK0.97621471
71BRD40.94397800
72PKN10.93949751
73CDC42BPA0.93572076
74CDC70.90054777
75CSNK1A1L0.88488312
76WNK30.88043933
77MAP3K50.86323874
78MST1R0.85415878
79PDPK10.83170702
80PAK40.81078067
81EPHB20.79609906
82NTRK20.78260108
83EPHA20.77558537
84IKBKB0.76187485
85MAP3K20.74485519
86DDR20.74346795
87STK240.73145543
88ADRBK10.68420913
89EPHB10.65948765
90DAPK30.65589683
91PRKG10.63353958
92CDK90.62306633
93MINK10.60868568
94PRKACG0.60645228
95CSK0.60489155
96MAP2K30.60374695
97SGK2230.58646003
98SGK4940.58646003
99PTK20.58551071
100ATM0.58147755
101CAMK2G0.57822779
102FGFR10.57631213
103ERBB20.57597481
104MET0.57026576
105HIPK20.57025729
106CHEK10.56111626
107LYN0.55083722
108MAP3K110.53770581
109SGK20.53170537
110DAPK10.51476562
111PHKG20.51330794
112PHKG10.51330794
113FER0.50831805
114TGFBR10.50248827
115MAP3K10.50055479
116IRAK30.49848596
117DYRK1B0.48909929
118ADRBK20.48458584
119FES0.47680767
120CDK140.47519375
121LIMK10.47411747
122RPS6KB20.46942478
123FYN0.46243979
124MAP2K20.45756707
125BMX0.45422053
126EPHA30.41859646
127CLK10.41437096
128SGK30.41217143
129MAPK120.40954402
130TTK0.40696550
131CAMKK20.39862280
132MAPK10.39580195
133CDK10.38800922
134FGFR20.38371338
135NTRK30.38162892
136PDK10.38159008
137PRPF4B0.37492174
138SIK30.36479725
139RPS6KA50.36375917
140PRKCQ0.35903200
141SCYL20.35728117
142RET0.35020052
143PLK10.34865259
144JAK20.34144189
145MAPK150.33869647
146MKNK10.33807494
147CHUK0.33187645
148GSK3B0.33134250
149PRKDC0.31150439
150DMPK0.31087491
151TNK20.30984311
152PAK30.30889122
153PRKACB0.30817487
154MAP2K70.30449162
155ATR0.30370144
156CDK60.29292755
157PRKCB0.28481561
158STK40.28044884
159ABL20.27607336
160CAMK2D0.26965008
161RPS6KA40.26860220
162ROCK10.25416047
163MAPK140.24997664
164CDK20.24276508
165TNIK0.23946810
166LRRK20.22758962
167EGFR0.22276288
168CSNK1D0.21942685
169CHEK20.21274108
170PAK10.20030362
171SRC0.19480550
172PRKD20.19125616
173CSNK1G20.18461965
174PRKCH0.18089318
175DYRK30.17858017

Predicted pathways (KEGG)

RankGene SetZ-score
1Pathogenic Escherichia coli infection_Homo sapiens_hsa051303.92999577
2Platelet activation_Homo sapiens_hsa046113.85024228
3ECM-receptor interaction_Homo sapiens_hsa045123.52552711
4Fatty acid biosynthesis_Homo sapiens_hsa000613.49687464
5Hedgehog signaling pathway_Homo sapiens_hsa043403.23962110
6Ovarian steroidogenesis_Homo sapiens_hsa049133.14943176
7Protein digestion and absorption_Homo sapiens_hsa049742.65936043
8Arachidonic acid metabolism_Homo sapiens_hsa005902.39848302
9SNARE interactions in vesicular transport_Homo sapiens_hsa041302.37471446
10Pyruvate metabolism_Homo sapiens_hsa006202.34202963
11Dorso-ventral axis formation_Homo sapiens_hsa043202.25598441
12Amoebiasis_Homo sapiens_hsa051462.12954884
13Primary bile acid biosynthesis_Homo sapiens_hsa001202.10404118
14TGF-beta signaling pathway_Homo sapiens_hsa043502.08164132
15Fatty acid metabolism_Homo sapiens_hsa012122.03409586
16Small cell lung cancer_Homo sapiens_hsa052221.92282452
17Focal adhesion_Homo sapiens_hsa045101.83041996
18Basal cell carcinoma_Homo sapiens_hsa052171.81660850
19PPAR signaling pathway_Homo sapiens_hsa033201.77935537
20Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.77221036
21Lysine degradation_Homo sapiens_hsa003101.73183667
22Renin secretion_Homo sapiens_hsa049241.72462155
23Nitrogen metabolism_Homo sapiens_hsa009101.69690820
24Axon guidance_Homo sapiens_hsa043601.59783309
25Fatty acid degradation_Homo sapiens_hsa000711.51722216
26Viral myocarditis_Homo sapiens_hsa054161.50214759
27cAMP signaling pathway_Homo sapiens_hsa040241.49679062
28Propanoate metabolism_Homo sapiens_hsa006401.48535011
29Tyrosine metabolism_Homo sapiens_hsa003501.48399166
30Histidine metabolism_Homo sapiens_hsa003401.47104481
31Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.42971735
32Caffeine metabolism_Homo sapiens_hsa002321.42698625
33Glucagon signaling pathway_Homo sapiens_hsa049221.40082166
34Systemic lupus erythematosus_Homo sapiens_hsa053221.39575049
35beta-Alanine metabolism_Homo sapiens_hsa004101.38683737
36Pentose and glucuronate interconversions_Homo sapiens_hsa000401.37200785
37Hematopoietic cell lineage_Homo sapiens_hsa046401.34612566
38Oocyte meiosis_Homo sapiens_hsa041141.34513092
39* Steroid hormone biosynthesis_Homo sapiens_hsa001401.33381923
40Alcoholism_Homo sapiens_hsa050341.29499879
41Hippo signaling pathway_Homo sapiens_hsa043901.28227776
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.27519417
43Starch and sucrose metabolism_Homo sapiens_hsa005001.27471330
44Drug metabolism - other enzymes_Homo sapiens_hsa009831.26001664
45Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.25047418
46Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.23622159
47mRNA surveillance pathway_Homo sapiens_hsa030151.21401590
48Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.21108326
49Serotonergic synapse_Homo sapiens_hsa047261.18638829
50Carbohydrate digestion and absorption_Homo sapiens_hsa049731.14092092
51Endocytosis_Homo sapiens_hsa041441.13966985
52Thyroid hormone signaling pathway_Homo sapiens_hsa049191.13635742
53Phenylalanine metabolism_Homo sapiens_hsa003601.11788098
54Aldosterone synthesis and secretion_Homo sapiens_hsa049251.08579553
55Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.08277764
56Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.07908989
57Notch signaling pathway_Homo sapiens_hsa043301.07507170
58alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.07118054
59Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.06622892
60Cyanoamino acid metabolism_Homo sapiens_hsa004601.04566897
61Toxoplasmosis_Homo sapiens_hsa051451.02988015
62Selenocompound metabolism_Homo sapiens_hsa004501.02455565
63Arginine and proline metabolism_Homo sapiens_hsa003301.00041879
64Complement and coagulation cascades_Homo sapiens_hsa046100.99054496
65Phagosome_Homo sapiens_hsa041450.98174258
66Vascular smooth muscle contraction_Homo sapiens_hsa042700.98152876
67Chemokine signaling pathway_Homo sapiens_hsa040620.98106591
68Central carbon metabolism in cancer_Homo sapiens_hsa052300.96241989
69Pancreatic secretion_Homo sapiens_hsa049720.95375718
70Mineral absorption_Homo sapiens_hsa049780.94182333
71Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.93338013
72Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.93145833
73Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.93073585
74Bile secretion_Homo sapiens_hsa049760.92799790
75Chemical carcinogenesis_Homo sapiens_hsa052040.90751832
76Adherens junction_Homo sapiens_hsa045200.90546700
77Olfactory transduction_Homo sapiens_hsa047400.88784949
78Staphylococcus aureus infection_Homo sapiens_hsa051500.86029682
79Linoleic acid metabolism_Homo sapiens_hsa005910.85147772
80Estrogen signaling pathway_Homo sapiens_hsa049150.84725577
81AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.83951464
82Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.81987810
83Leukocyte transendothelial migration_Homo sapiens_hsa046700.81582537
84Adipocytokine signaling pathway_Homo sapiens_hsa049200.81533832
85Proteoglycans in cancer_Homo sapiens_hsa052050.77772432
86Tight junction_Homo sapiens_hsa045300.76900176
87Salivary secretion_Homo sapiens_hsa049700.76432427
88Fat digestion and absorption_Homo sapiens_hsa049750.76393396
89Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.75889599
90Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.74719788
91Insulin resistance_Homo sapiens_hsa049310.74186462
92Regulation of actin cytoskeleton_Homo sapiens_hsa048100.72915309
93Wnt signaling pathway_Homo sapiens_hsa043100.72059023
94Collecting duct acid secretion_Homo sapiens_hsa049660.71041179
95Gastric acid secretion_Homo sapiens_hsa049710.70028180
96Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.69985272
97Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.69380538
98Pathways in cancer_Homo sapiens_hsa052000.69187077
99Cysteine and methionine metabolism_Homo sapiens_hsa002700.67570476
100Glycerolipid metabolism_Homo sapiens_hsa005610.67205573
101Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.66199507
102Retinol metabolism_Homo sapiens_hsa008300.64233473
103Arginine biosynthesis_Homo sapiens_hsa002200.63746556
104PI3K-Akt signaling pathway_Homo sapiens_hsa041510.63230390
105Longevity regulating pathway - mammal_Homo sapiens_hsa042110.63033904
106Phospholipase D signaling pathway_Homo sapiens_hsa040720.62783516
107Sulfur metabolism_Homo sapiens_hsa009200.62337076
108Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.62119739
109Circadian entrainment_Homo sapiens_hsa047130.61581922
110Apoptosis_Homo sapiens_hsa042100.60593351
111Thyroid hormone synthesis_Homo sapiens_hsa049180.59114360
112Sphingolipid metabolism_Homo sapiens_hsa006000.58112174
113Galactose metabolism_Homo sapiens_hsa000520.58050589
114Dilated cardiomyopathy_Homo sapiens_hsa054140.57358786
115Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.57313839
116Basal transcription factors_Homo sapiens_hsa030220.56997734
117Shigellosis_Homo sapiens_hsa051310.56756265
118Glutathione metabolism_Homo sapiens_hsa004800.55729656
119Vitamin digestion and absorption_Homo sapiens_hsa049770.55701915
120Morphine addiction_Homo sapiens_hsa050320.55585263
121VEGF signaling pathway_Homo sapiens_hsa043700.55263156
122HTLV-I infection_Homo sapiens_hsa051660.54800524
123Glycerophospholipid metabolism_Homo sapiens_hsa005640.54451799
124Prostate cancer_Homo sapiens_hsa052150.54288455
125RNA transport_Homo sapiens_hsa030130.53363505
126Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.52694432
127Amphetamine addiction_Homo sapiens_hsa050310.50552426
128Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.50358327
129Renin-angiotensin system_Homo sapiens_hsa046140.50122098
130Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.47928899
131AMPK signaling pathway_Homo sapiens_hsa041520.47420865
132GABAergic synapse_Homo sapiens_hsa047270.46634805
133Synaptic vesicle cycle_Homo sapiens_hsa047210.46468255
134Fatty acid elongation_Homo sapiens_hsa000620.46012987
135Melanogenesis_Homo sapiens_hsa049160.45850337
136Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.43444658
137Pentose phosphate pathway_Homo sapiens_hsa000300.43087046
138Calcium signaling pathway_Homo sapiens_hsa040200.42982270
139Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.42872064
140B cell receptor signaling pathway_Homo sapiens_hsa046620.42352369
141Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.41993862
142Vitamin B6 metabolism_Homo sapiens_hsa007500.41732819
143Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.40203944
144ABC transporters_Homo sapiens_hsa020100.39677924
145Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.39281482
146Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.38792413
147Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.38763425
148Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.38360654
149Malaria_Homo sapiens_hsa051440.38292753
150Glioma_Homo sapiens_hsa052140.37971564
151Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.37054532
152Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.36754092
153Prolactin signaling pathway_Homo sapiens_hsa049170.36387170
154Oxytocin signaling pathway_Homo sapiens_hsa049210.36245839
155Choline metabolism in cancer_Homo sapiens_hsa052310.36094708
156Rap1 signaling pathway_Homo sapiens_hsa040150.35337038
157Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.34157772
158Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.33870643
159Gap junction_Homo sapiens_hsa045400.33681241
160Glycosaminoglycan degradation_Homo sapiens_hsa005310.32458159
161Peroxisome_Homo sapiens_hsa041460.30092242
162Phosphatidylinositol signaling system_Homo sapiens_hsa040700.27987609

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