UPK3A

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





Description: This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1tonic smooth muscle contraction (GO:0014820)7.48627109
2regulation of hypersensitivity (GO:0002883)6.82354753
3positive regulation of mast cell degranulation (GO:0043306)6.57850786
4positive regulation of mast cell activation involved in immune response (GO:0033008)6.57850786
5neutrophil activation involved in immune response (GO:0002283)6.03443782
6positive regulation of mast cell activation (GO:0033005)5.91493128
7extracellular matrix assembly (GO:0085029)5.89335985
8spindle assembly involved in mitosis (GO:0090307)5.68038116
9protein autoprocessing (GO:0016540)5.64141019
10negative regulation of glycoprotein biosynthetic process (GO:0010561)5.63329722
11lung vasculature development (GO:0060426)5.61697811
12xenobiotic catabolic process (GO:0042178)5.44664532
13negative regulation of heart growth (GO:0061117)5.43622073
14negative regulation of cardiac muscle tissue growth (GO:0055022)5.43622073
15positive regulation of inflammatory response to antigenic stimulus (GO:0002863)5.29848997
16positive regulation of myeloid leukocyte mediated immunity (GO:0002888)5.24450105
17immunoglobulin mediated immune response (GO:0016064)5.11382185
18negative regulation of cardiac muscle hypertrophy (GO:0010614)5.10894680
19galactose catabolic process (GO:0019388)5.02977114
20cellular response to osmotic stress (GO:0071470)5.02565566
21positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)4.94334141
22smooth muscle contraction (GO:0006939)4.89402440
23regulation of acute inflammatory response to antigenic stimulus (GO:0002864)4.80466759
24lung lobe morphogenesis (GO:0060463)4.76476294
25vascular smooth muscle contraction (GO:0014829)4.71549226
26respiratory tube development (GO:0030323)4.63522280
27positive regulation of leukocyte degranulation (GO:0043302)4.61861673
28negative regulation of muscle hypertrophy (GO:0014741)4.49481440
29relaxation of smooth muscle (GO:0044557)4.45407767
30regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)4.44649639
31establishment of apical/basal cell polarity (GO:0035089)4.43785810
32regulation of mast cell degranulation (GO:0043304)4.42013667
33polarized epithelial cell differentiation (GO:0030859)4.40213810
34regulation of triglyceride catabolic process (GO:0010896)4.33747981
35sphingosine metabolic process (GO:0006670)4.26251991
36mature B cell differentiation involved in immune response (GO:0002313)4.24762104
37microtubule cytoskeleton organization involved in mitosis (GO:1902850)4.20022589
38negative regulation of glycoprotein metabolic process (GO:1903019)4.15200808
39platelet aggregation (GO:0070527)4.13840641
40protein localization to cell surface (GO:0034394)4.11812800
41regulation of plasminogen activation (GO:0010755)4.10081847
42lung morphogenesis (GO:0060425)4.08383939
43cGMP-mediated signaling (GO:0019934)4.05324487
44negative regulation of catenin import into nucleus (GO:0035414)4.03721502
45antigen processing and presentation via MHC class Ib (GO:0002475)4.03398781
46regulation of mast cell activation involved in immune response (GO:0033006)4.01591838
47epithelial cell differentiation involved in prostate gland development (GO:0060742)4.00725610
48citrulline biosynthetic process (GO:0019240)3.98973024
49regulation of cholesterol esterification (GO:0010872)3.98458815
50regulation of protein glycosylation (GO:0060049)3.97259708
51mRNA transcription from RNA polymerase II promoter (GO:0042789)3.95987903
52B cell mediated immunity (GO:0019724)3.95289059
53interferon-gamma-mediated signaling pathway (GO:0060333)3.94126697
54planar cell polarity pathway involved in neural tube closure (GO:0090179)3.90118320
55outflow tract septum morphogenesis (GO:0003148)3.89404663
56mesenchymal cell differentiation involved in kidney development (GO:0072161)3.86539675
57mesenchymal cell differentiation involved in renal system development (GO:2001012)3.86539675
58diol metabolic process (GO:0034311)3.85542178
59phospholipid efflux (GO:0033700)3.84566221
60regulation of mast cell activation (GO:0033003)3.80826772
61response to nitrosative stress (GO:0051409)3.79816248
62establishment of monopolar cell polarity (GO:0061162)3.78958613
63establishment or maintenance of monopolar cell polarity (GO:0061339)3.78958613
64leukotriene biosynthetic process (GO:0019370)3.78091940
65vasoconstriction (GO:0042310)3.74159234
66regulation of myeloid leukocyte mediated immunity (GO:0002886)3.61238497
67midgut development (GO:0007494)3.58759591
68respiratory electron transport chain (GO:0022904)3.56481811
69regulation of skeletal muscle contraction (GO:0014819)3.54627582
70regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.54209078
71antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.52373083
72intestinal cholesterol absorption (GO:0030299)3.51995144
73response to peptidoglycan (GO:0032494)3.49707698
74electron transport chain (GO:0022900)3.47559431
75purine deoxyribonucleotide catabolic process (GO:0009155)3.46346022
76positive regulation of lipoprotein lipase activity (GO:0051006)3.46142734
77positive regulation of triglyceride lipase activity (GO:0061365)3.46142734
78ATP synthesis coupled proton transport (GO:0015986)3.43056754
79energy coupled proton transport, down electrochemical gradient (GO:0015985)3.43056754
80mRNA transcription (GO:0009299)3.42722054
81triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.42515603
82endocardial cushion morphogenesis (GO:0003203)3.41924723
83regulation of inflammatory response to antigenic stimulus (GO:0002861)3.41595008
84positive regulation of regulated secretory pathway (GO:1903307)3.41060122
85mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.41042728
86cell differentiation involved in metanephros development (GO:0072202)3.40867346
87response to muscle activity (GO:0014850)3.40849100
88regulation of transcription from RNA polymerase II promoter involved in heart development (GO:1901213.35607095
89regulation of cell-cell adhesion mediated by cadherin (GO:2000047)3.35050052
90plasma lipoprotein particle assembly (GO:0034377)3.35030441
91detection of molecule of bacterial origin (GO:0032490)3.34660179
92regulation of cardiac muscle cell differentiation (GO:2000725)3.31792907
93acrosome reaction (GO:0007340)3.31294999
94regulation of leukocyte degranulation (GO:0043300)3.31196050
95cholesterol efflux (GO:0033344)3.29832279
96negative regulation of cardiac muscle tissue development (GO:0055026)3.28390533
97embryonic foregut morphogenesis (GO:0048617)3.27058318
98reverse cholesterol transport (GO:0043691)3.22786618
99high-density lipoprotein particle remodeling (GO:0034375)3.21172749
100regulation of smooth muscle contraction (GO:0006940)3.20627312
101mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.20569214
102sphingoid metabolic process (GO:0046519)3.20167655
103skeletal muscle contraction (GO:0003009)3.20102838
104hyperosmotic salinity response (GO:0042538)3.19313847
105detection of external biotic stimulus (GO:0098581)3.18881503
106plasma lipoprotein particle remodeling (GO:0034369)3.16757015
107protein-lipid complex remodeling (GO:0034368)3.16757015
108macromolecular complex remodeling (GO:0034367)3.16757015
109positive regulation of fatty acid biosynthetic process (GO:0045723)3.16726335
110neutrophil activation (GO:0042119)3.14751690
111actin-myosin filament sliding (GO:0033275)3.14555442
112muscle filament sliding (GO:0030049)3.14555442
113protein-lipid complex assembly (GO:0065005)3.14486796
114detection of bacterium (GO:0016045)3.14472462
115negative regulation of sterol transport (GO:0032372)3.14316138
116negative regulation of cholesterol transport (GO:0032375)3.14316138
117Golgi transport vesicle coating (GO:0048200)3.13058440
118COPI coating of Golgi vesicle (GO:0048205)3.13058440
119pinocytosis (GO:0006907)3.11539878
120very-low-density lipoprotein particle assembly (GO:0034379)3.09108293
121hepatocyte apoptotic process (GO:0097284)3.07391455
122mesenchyme morphogenesis (GO:0072132)3.06707828
123renal absorption (GO:0070293)3.06033383
124mature B cell differentiation (GO:0002335)3.05380582
125mast cell activation (GO:0045576)3.04951031
126gonadal mesoderm development (GO:0007506)3.04906113
127endocardial cushion development (GO:0003197)3.04773441
128cellular response to interferon-gamma (GO:0071346)3.04646080
129lung-associated mesenchyme development (GO:0060484)3.04401497
130regulation of cardiac muscle tissue growth (GO:0055021)3.03846109
131T cell costimulation (GO:0031295)3.03454945
132primary alcohol catabolic process (GO:0034310)3.03058647
133leukotriene metabolic process (GO:0006691)3.02475519
134regulation of cardiac muscle hypertrophy (GO:0010611)3.01742111
135establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)3.00848285
136ectodermal placode formation (GO:0060788)2.99652593
137lymphocyte costimulation (GO:0031294)2.99158053
138metanephric tubule development (GO:0072170)2.98772869
139metanephric nephron tubule development (GO:0072234)2.98772869
140detection of other organism (GO:0098543)2.98393544
141stress fiber assembly (GO:0043149)2.98210198
142lipoxygenase pathway (GO:0019372)2.97655567
143establishment of planar polarity (GO:0001736)2.97451817
144establishment of tissue polarity (GO:0007164)2.97451817
145cardiac muscle cell development (GO:0055013)2.96737220
146epithelial cell-cell adhesion (GO:0090136)2.95770377
147negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.93600625
148oxygen transport (GO:0015671)2.93491043
149flavonoid metabolic process (GO:0009812)2.91768245
150negative regulation of myeloid cell apoptotic process (GO:0033033)2.90563194
151viral transcription (GO:0019083)2.89266573
152endothelial cell morphogenesis (GO:0001886)2.88709883
153response to xenobiotic stimulus (GO:0009410)2.88439697
154positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.87943101
155regulation of muscle hypertrophy (GO:0014743)2.86742857
156homotypic cell-cell adhesion (GO:0034109)2.86117893
157muscle contraction (GO:0006936)2.84773528
158tooth mineralization (GO:0034505)2.81306941
159fibroblast migration (GO:0010761)2.81124292
160glandular epithelial cell differentiation (GO:0002067)2.80937100
161sphingolipid biosynthetic process (GO:0030148)2.79232630
162detection of biotic stimulus (GO:0009595)2.78571449
163relaxation of muscle (GO:0090075)2.77239046
164myeloid cell activation involved in immune response (GO:0002275)2.77082021
165mesodermal cell differentiation (GO:0048333)2.75582742
166positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610812.75401876
167G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.74939596
168plasma lipoprotein particle clearance (GO:0034381)2.74881072
169granulocyte activation (GO:0036230)2.74834654
170embryo implantation (GO:0007566)2.74738403
171early endosome to late endosome transport (GO:0045022)2.73824944
172phagocytosis, engulfment (GO:0006911)2.73518704
173extracellular fibril organization (GO:0043206)2.72479646
174negative regulation of smooth muscle contraction (GO:0045986)2.72275075
175cardiac cell development (GO:0055006)2.72005845
176regulation of germinal center formation (GO:0002634)2.71498867
177metanephric nephron epithelium development (GO:0072243)2.70712975
178renal filtration (GO:0097205)2.70658288
179positive regulation of response to biotic stimulus (GO:0002833)2.70643438
180oligosaccharide catabolic process (GO:0009313)2.70341729
181cell volume homeostasis (GO:0006884)2.70277010
182regulation of regulated secretory pathway (GO:1903305)2.69404689
183glycogen catabolic process (GO:0005980)2.68501267
184microglial cell activation (GO:0001774)2.67768897
185Arp2/3 complex-mediated actin nucleation (GO:0034314)2.66422586
186response to interferon-gamma (GO:0034341)2.65418621
187translational termination (GO:0006415)2.65059322
188regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)2.64780646
189positive regulation of interleukin-17 production (GO:0032740)2.62248874
190negative regulation of heart rate (GO:0010459)2.61787489
191production of molecular mediator involved in inflammatory response (GO:0002532)2.60431338
192glutathione derivative biosynthetic process (GO:1901687)2.59766273
193glutathione derivative metabolic process (GO:1901685)2.59766273
194protein retention in ER lumen (GO:0006621)2.59275574
195positive regulation of acute inflammatory response (GO:0002675)2.58471933
196purinergic nucleotide receptor signaling pathway (GO:0035590)2.56963410
197* one-carbon compound transport (GO:0019755)2.56607139
198renal system development (GO:0072001)2.54489114
199galactose metabolic process (GO:0006012)2.54172629
200hypotonic response (GO:0006971)10.5517451

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human5.86857601
2SOX9_22984422_ChIP-ChIP_TESTIS_Rat5.69885411
3CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human4.71180113
4IRF8_22096565_ChIP-ChIP_GC-B_Human4.53057334
5RARG_19884340_ChIP-ChIP_MEFs_Mouse4.23062076
6PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.76047230
7CHD7_19251738_ChIP-ChIP_MESCs_Mouse3.51336740
8CLOCK_20551151_ChIP-Seq_293T_Human3.46497582
9IRF8_21731497_ChIP-ChIP_J774_Mouse3.27130805
10STAT6_21828071_ChIP-Seq_BEAS2B_Human2.65928569
11ZNF263_19887448_ChIP-Seq_K562_Human2.53883485
12ERG_21242973_ChIP-ChIP_JURKAT_Human2.52210081
13TP63_17297297_ChIP-ChIP_HaCaT_Human2.51074088
14TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.49287232
15PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.38757937
16TRIM28_21343339_ChIP-Seq_HEK293_Human2.30288849
17ESR2_21235772_ChIP-Seq_MCF-7_Human2.23553217
18RACK7_27058665_Chip-Seq_MCF-7_Human2.22356334
19IRF8_27001747_Chip-Seq_BMDM_Mouse2.20206208
20SPI1_23547873_ChIP-Seq_NB4_Human2.14977305
21IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.12174099
22SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.09379721
23HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.04771880
24SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.00069513
25NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.99743598
26IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.99742450
27CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.94057865
28TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.91008576
29ZFP281_18757296_ChIP-ChIP_E14_Mouse1.90904932
30EGR1_23403033_ChIP-Seq_LIVER_Mouse1.88476989
31NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.84555008
32PPAR_26484153_Chip-Seq_NCI-H1993_Human1.83982828
33IKZF1_21737484_ChIP-ChIP_HCT116_Human1.74089799
34UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.70341968
35ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.69905756
36MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.68708263
37ESR1_21235772_ChIP-Seq_MCF-7_Human1.68596239
38SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.66182461
39LXR_22292898_ChIP-Seq_THP-1_Human1.66120651
40POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.63770321
41ELK3_25401928_ChIP-Seq_HUVEC_Human1.59858932
42LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.58579830
43NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.56944845
44THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.54785495
45CDX2_19796622_ChIP-Seq_MESCs_Mouse1.54450071
46SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.54108353
47SPI1_23127762_ChIP-Seq_K562_Human1.53893473
48PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.53529610
49FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.51715580
50CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.50975006
51SMC4_20622854_ChIP-Seq_HELA_Human1.50235978
52SOX2_20726797_ChIP-Seq_SW620_Human1.49781711
53BRD4_27068464_Chip-Seq_AML-cells_Mouse1.49429164
54MYB_21317192_ChIP-Seq_ERMYB_Mouse1.49239634
55DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.46219484
56SPI1_20517297_ChIP-Seq_HL60_Human1.46055799
57STAT4_19710469_ChIP-ChIP_TH1__Mouse1.45999905
58TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.43918548
59NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.43240742
60TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.42157960
61SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.41901119
62RXR_22158963_ChIP-Seq_LIVER_Mouse1.41842965
63PPARA_22158963_ChIP-Seq_LIVER_Mouse1.40690367
64TP63_22573176_ChIP-Seq_HFKS_Human1.40615897
65SCL_19346495_ChIP-Seq_HPC-7_Human1.40074163
66P63_26484246_Chip-Seq_KERATINOCYTES_Human1.38578721
67CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.34841612
68LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.34733132
69SOX2_27498859_Chip-Seq_STOMACH_Mouse1.33450785
70RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.31948531
71SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.31867924
72STAT1_20625510_ChIP-Seq_HELA_Human1.31205208
73ELK1_22589737_ChIP-Seq_MCF10A_Human1.31083487
74SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.30732647
75RUNX1_27514584_Chip-Seq_MCF-7_Human1.29853180
76WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.29728972
77CEBPB_22108803_ChIP-Seq_LS180_Human1.27902450
78MYB_26560356_Chip-Seq_TH2_Human1.27384105
79VDR_24763502_ChIP-Seq_THP-1_Human1.27072906
80EOMES_21245162_ChIP-Seq_HESCs_Human1.26585292
81KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.26179640
82CTCF_20526341_ChIP-Seq_ESCs_Human1.24333849
83* CDX2_20551321_ChIP-Seq_CACO-2_Human1.24277251
84EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.23743732
85CTCF_27219007_Chip-Seq_Bcells_Human1.21501792
86FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.20490454
87GATA4_25053715_ChIP-Seq_YYC3_Human1.20311375
88TP53_20018659_ChIP-ChIP_R1E_Mouse1.20143457
89BCL6_27268052_Chip-Seq_Bcells_Human1.19515444
90RUNX1_22412390_ChIP-Seq_EML_Mouse1.19333296
91CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.19246189
92FLI1_27457419_Chip-Seq_LIVER_Mouse1.18921867
93CSB_26484114_Chip-Seq_FIBROBLAST_Human1.18795730
94ATF3_27146783_Chip-Seq_COLON_Human1.18755041
95RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.17936958
96CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.17733461
97Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.17690018
98ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.17611201
99TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.16893089
100VDR_24787735_ChIP-Seq_THP-1_Human1.16627558
101RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.16127608
102TAF2_19829295_ChIP-Seq_ESCs_Human1.15463960
103RAD21_21589869_ChIP-Seq_MESCs_Mouse1.15346876
104GATA3_26560356_Chip-Seq_TH2_Human1.14863181
105FOXH1_21741376_ChIP-Seq_ESCs_Human1.13795094
106TDRD3_21172665_ChIP-Seq_MCF-7_Human1.13042347
107GATA1_26923725_Chip-Seq_HPCs_Mouse1.12923273
108SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.12508228
109SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.12501250
110SA1_27219007_Chip-Seq_Bcells_Human1.12329880
111GATA3_27048872_Chip-Seq_THYMUS_Human1.11627891
112ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.10807321
113KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.10806330
114CREB1_26743006_Chip-Seq_LNCaP_Human1.10289181
115CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.10231237
116LXR_22158963_ChIP-Seq_LIVER_Mouse1.09968166
117ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.09910356
118P300_27268052_Chip-Seq_Bcells_Human1.09661537
119ESR1_20079471_ChIP-ChIP_T-47D_Human1.08486238
120HIF1A_21447827_ChIP-Seq_MCF-7_Human1.08315381
121FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.07722295
122EED_16625203_ChIP-ChIP_MESCs_Mouse1.07473797
123KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.06547302
124BCOR_27268052_Chip-Seq_Bcells_Human1.06406231
125PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.05864224
126TCF3_18692474_ChIP-Seq_MEFs_Mouse1.05624953
127MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.03920897
128BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.03661408
129EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.03559305
130CTCF_21964334_Chip-Seq_Bcells_Human1.03286353
131MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.03122643
132TET1_21451524_ChIP-Seq_MESCs_Mouse1.01911285
133CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.01738674
134NCOR_22424771_ChIP-Seq_293T_Human1.00798929
135PCGF2_27294783_Chip-Seq_ESCs_Mouse0.99958451
136SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.99899175
137SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.99899175
138KDM2B_26808549_Chip-Seq_K562_Human0.99845240
139CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.99617127
140SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.98736728
141YY1_22570637_ChIP-Seq_MALME-3M_Human0.98590453
142ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.98287379
143BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.98245345
144NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.97809356
145ELF1_20517297_ChIP-Seq_JURKAT_Human0.97786916
146TP53_18474530_ChIP-ChIP_U2OS_Human0.97613491
147STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.97192142
148EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.96923128
149PU.1_20513432_ChIP-Seq_Bcells_Mouse0.96663842
150PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.96538119
151EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.96435225
152GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.95816792
153OCT4_18692474_ChIP-Seq_MEFs_Mouse0.94867695
154EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.94732079
155* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.94483288
156ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.94189719
157PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.93560871
158CTCF_18555785_ChIP-Seq_MESCs_Mouse0.93456096
159GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.93286285
160RUNX_20019798_ChIP-Seq_JUKART_Human0.92847713
161ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.92058079
162CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.92034787
163* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.91934103
164CJUN_26792858_Chip-Seq_BT549_Human0.91395132
165NRF2_20460467_ChIP-Seq_MEFs_Mouse0.91239001
166CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.90335896
167P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.89930281
168GATA1_22383799_ChIP-Seq_G1ME_Mouse0.87743388
169CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.86654976
170NANOG_20526341_ChIP-Seq_ESCs_Human0.85526207
171CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.85347864
172MYB_26560356_Chip-Seq_TH1_Human0.84152848
173RAC3_21632823_ChIP-Seq_H3396_Human0.83886670
174MAF_26560356_Chip-Seq_TH1_Human0.83642698
175FOXH1_21741376_ChIP-Seq_EPCs_Human0.83617615
176PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.83282611
177FOXO3_23340844_ChIP-Seq_DLD1_Human0.81096866
178VDR_21846776_ChIP-Seq_THP-1_Human0.78959770

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0000516_abnormal_urinary_system7.81059828
2* MP0005367_renal/urinary_system_phenotyp7.81059828
3MP0001835_abnormal_antigen_presentation4.38451777
4MP0003646_muscle_fatigue3.73197461
5* MP0000534_abnormal_ureter_morphology3.50879319
6* MP0001756_abnormal_urination3.28157832
7MP0000013_abnormal_adipose_tissue2.93951081
8MP0003806_abnormal_nucleotide_metabolis2.91251281
9MP0002837_dystrophic_cardiac_calcinosis2.90305307
10MP0009379_abnormal_foot_pigmentation2.38870390
11MP0000462_abnormal_digestive_system2.34678038
12MP0005451_abnormal_body_composition2.33801947
13MP0006036_abnormal_mitochondrial_physio2.31507954
14MP0001958_emphysema2.30604090
15MP0001664_abnormal_digestion2.25331926
16MP0005671_abnormal_response_to2.23807539
17MP0006082_CNS_inflammation2.20074531
18MP0006054_spinal_hemorrhage2.12242443
19MP0005670_abnormal_white_adipose2.03318750
20MP0003724_increased_susceptibility_to2.00257163
21MP0010386_abnormal_urinary_bladder12.5299690
22MP0009785_altered_susceptibility_to1.98914874
23MP0002139_abnormal_hepatobiliary_system1.98586267
24MP0002148_abnormal_hypersensitivity_rea1.97752818
25MP0005058_abnormal_lysosome_morphology1.96277838
26MP0005464_abnormal_platelet_physiology1.93826466
27MP0005084_abnormal_gallbladder_morpholo1.93233789
28MP0001800_abnormal_humoral_immune1.84217385
29MP0009764_decreased_sensitivity_to1.83665335
30MP0000538_abnormal_urinary_bladder1.83336303
31MP0010329_abnormal_lipoprotein_level1.76466095
32MP0002166_altered_tumor_susceptibility1.75788752
33MP0002419_abnormal_innate_immunity1.72878695
34MP0000685_abnormal_immune_system1.68737006
35MP0008438_abnormal_cutaneous_collagen1.65172563
36MP0003436_decreased_susceptibility_to1.62276624
37MP0005025_abnormal_response_to1.61925124
38MP0000230_abnormal_systemic_arterial1.61384433
39MP0003303_peritoneal_inflammation1.60273433
40MP0001666_abnormal_nutrient_absorption1.58821440
41MP0004036_abnormal_muscle_relaxation1.57657487
42MP0005275_abnormal_skin_tensile1.56324098
43MP0005000_abnormal_immune_tolerance1.55079675
44MP0005085_abnormal_gallbladder_physiolo1.53876957
45MP0002452_abnormal_antigen_presenting1.52189819
46MP0003075_altered_response_to1.51227680
47MP0003252_abnormal_bile_duct1.46961607
48MP0008469_abnormal_protein_level1.44555449
49MP0002723_abnormal_immune_serum1.40622456
50MP0003191_abnormal_cellular_cholesterol1.38364602
51MP0005636_abnormal_mineral_homeostasis1.37762699
52MP0005330_cardiomyopathy1.37678797
53MP0002876_abnormal_thyroid_physiology1.33459318
54MP0000537_abnormal_urethra_morphology1.32613359
55MP0002106_abnormal_muscle_physiology1.30848906
56MP0003283_abnormal_digestive_organ1.29714837
57MP0001853_heart_inflammation1.29526350
58MP0005620_abnormal_muscle_contractility1.29061938
59MP0003172_abnormal_lysosome_physiology1.26052772
60MP0004233_abnormal_muscle_weight1.22220455
61MP0001790_abnormal_immune_system1.21476352
62MP0005387_immune_system_phenotype1.21476352
63MP0004272_abnormal_basement_membrane1.19620124
64MP0001873_stomach_inflammation1.17481616
65MP0002332_abnormal_exercise_endurance1.17164347
66MP0001819_abnormal_immune_cell1.16750288
67MP0005075_abnormal_melanosome_morpholog1.15471516
68MP0005408_hypopigmentation1.15292459
69MP0010155_abnormal_intestine_physiology1.15180479
70MP0005083_abnormal_biliary_tract1.14906670
71MP0002420_abnormal_adaptive_immunity1.14395398
72MP0000003_abnormal_adipose_tissue1.13993918
73MP0004185_abnormal_adipocyte_glucose1.12213613
74MP0005503_abnormal_tendon_morphology1.12167435
75MP0009333_abnormal_splenocyte_physiolog1.08102044
76MP0003566_abnormal_cell_adhesion1.07949528
77MP0002234_abnormal_pharynx_morphology1.07452461
78MP0002118_abnormal_lipid_homeostasis1.06368150
79MP0008875_abnormal_xenobiotic_pharmacok1.05454601
80MP0000858_altered_metastatic_potential1.05231018
81MP0005595_abnormal_vascular_smooth1.04967019
82* MP0009643_abnormal_urine_homeostasis1.04844995
83MP0000749_muscle_degeneration1.04186367
84MP0000751_myopathy1.04143459
85MP0005369_muscle_phenotype1.03504055
86MP0001845_abnormal_inflammatory_respons0.99395755
87MP0000750_abnormal_muscle_regeneration0.96966594
88MP0003011_delayed_dark_adaptation0.96880550
89MP0004084_abnormal_cardiac_muscle0.94895025
90MP0002006_tumorigenesis0.92925259
91MP0002909_abnormal_adrenal_gland0.90808608
92MP0001270_distended_abdomen0.89231896
93MP0003866_abnormal_defecation0.89038305
94MP0003638_abnormal_response/metabolism_0.88460268
95MP0004142_abnormal_muscle_tone0.88093189
96MP0009053_abnormal_anal_canal0.87939809
97MP0003315_abnormal_perineum_morphology0.86809338
98MP0008872_abnormal_physiological_respon0.85637642
99MP0003123_paternal_imprinting0.85016626
100MP0005584_abnormal_enzyme/coenzyme_acti0.83580332
101MP0000759_abnormal_skeletal_muscle0.83562916
102MP0000716_abnormal_immune_system0.83399005
103MP0003950_abnormal_plasma_membrane0.82857086
104MP0005266_abnormal_metabolism0.81187609
105MP0004087_abnormal_muscle_fiber0.81162095
106* MP0009642_abnormal_blood_homeostasis0.81006258
107MP0002796_impaired_skin_barrier0.77291453
108MP0001533_abnormal_skeleton_physiology0.77290939
109MP0002269_muscular_atrophy0.76948829
110MP0002998_abnormal_bone_remodeling0.76822643
111MP0001905_abnormal_dopamine_level0.76514499
112MP0003195_calcinosis0.76173843
113MP0003385_abnormal_body_wall0.76163795
114MP0000609_abnormal_liver_physiology0.75641952
115MP0003942_abnormal_urinary_system0.75357257
116MP0003879_abnormal_hair_cell0.74177853
117MP0005187_abnormal_penis_morphology0.74086203
118MP0002254_reproductive_system_inflammat0.72327596
119* MP0002136_abnormal_kidney_physiology0.71651207
120MP0005623_abnormal_meninges_morphology0.71524161
121MP0000465_gastrointestinal_hemorrhage0.63460864
122MP0002249_abnormal_larynx_morphology0.63353296
123MP0005375_adipose_tissue_phenotype0.60732872
124MP0005381_digestive/alimentary_phenotyp0.60345963
125MP0002127_abnormal_cardiovascular_syste0.59568614
126MP0003705_abnormal_hypodermis_morpholog0.59254683
127MP0000613_abnormal_salivary_gland0.57836046
128* MP0002135_abnormal_kidney_morphology0.57276966
129MP0010234_abnormal_vibrissa_follicle0.56534504
130MP0003115_abnormal_respiratory_system0.56494985
131MP0001765_abnormal_ion_homeostasis0.54161703
132MP0004264_abnormal_extraembryonic_tissu0.53793982
133MP0005023_abnormal_wound_healing0.51476968
134MP0004858_abnormal_nervous_system0.50521115
135MP0004145_abnormal_muscle_electrophysio0.50268254
136MP0004885_abnormal_endolymph0.47856838
137MP0004043_abnormal_pH_regulation0.47256160
138MP0005166_decreased_susceptibility_to0.45592567
139MP0005164_abnormal_response_to0.45472064
140MP0005365_abnormal_bile_salt0.45443827
141MP0005319_abnormal_enzyme/_coenzyme0.44600043
142MP0004019_abnormal_vitamin_homeostasis0.43233578
143MP0003938_abnormal_ear_development0.42603284
144MP0000249_abnormal_blood_vessel0.42464369
145MP0001944_abnormal_pancreas_morphology0.42186526
146MP0002282_abnormal_trachea_morphology0.42075207
147MP0004130_abnormal_muscle_cell0.40765148
148MP0005220_abnormal_exocrine_pancreas0.39638194
149MP0005388_respiratory_system_phenotype0.38430095
150MP0002133_abnormal_respiratory_system0.38430095
151MP0003045_fibrosis0.37666926
152MP0010368_abnormal_lymphatic_system0.36925461
153MP0000747_muscle_weakness0.33784620
154MP0002092_abnormal_eye_morphology0.33538559
155MP0009840_abnormal_foam_cell0.32830163
156MP0000767_abnormal_smooth_muscle0.31899099
157MP0000163_abnormal_cartilage_morphology0.31864515
158MP0004134_abnormal_chest_morphology0.31033867
159MP0005508_abnormal_skeleton_morphology0.30860304
160MP0000428_abnormal_craniofacial_morphol0.30770292
161MP0002060_abnormal_skin_morphology0.29890811
162MP0001299_abnormal_eye_distance/0.29456782
163MP0006138_congestive_heart_failure0.29241859
164MP0004484_altered_response_of0.28342922
165MP0002108_abnormal_muscle_morphology0.26425931
166* MP0005332_abnormal_amino_acid0.26066795
167MP0005360_urolithiasis0.25960424
168MP0004215_abnormal_myocardial_fiber0.25878936
169MP0000477_abnormal_intestine_morphology0.25714763
170MP0002896_abnormal_bone_mineralization0.25671907
171MP0003119_abnormal_digestive_system0.24870522
172MP0010030_abnormal_orbit_morphology0.24400473
173MP0002233_abnormal_nose_morphology0.24248385
174MP0002128_abnormal_blood_circulation0.24066038
175MP0001879_abnormal_lymphatic_vessel0.23266699

Predicted human phenotypes

RankGene SetZ-score
1Aortic dissection (HP:0002647)8.03248698
2Neoplasm of the heart (HP:0100544)7.22026579
3Gastrointestinal dysmotility (HP:0002579)6.99172274
4Malnutrition (HP:0004395)6.39970806
5Muscle fiber inclusion bodies (HP:0100299)5.90508973
6Nemaline bodies (HP:0003798)5.87108186
7Ankle contracture (HP:0006466)5.63236346
8Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.63181358
9Cerebral aneurysm (HP:0004944)5.43701291
10Hydroureter (HP:0000072)4.76707905
11Abdominal situs inversus (HP:0003363)4.66170828
12Abnormality of abdominal situs (HP:0011620)4.66170828
13Ulnar bowing (HP:0003031)4.49076577
14Wrist flexion contracture (HP:0001239)4.40018125
15Broad distal phalanx of finger (HP:0009836)4.35245529
16Exercise-induced myalgia (HP:0003738)4.25611349
17Aortic regurgitation (HP:0001659)4.22375479
18Stridor (HP:0010307)4.12830801
19Abnormal pupillary function (HP:0007686)4.08634852
20Long toe (HP:0010511)3.86227991
21Increased density of long bones (HP:0006392)3.81616033
22Broad face (HP:0000283)3.66126826
23Absent frontal sinuses (HP:0002688)3.62818519
24Chronic obstructive pulmonary disease (HP:0006510)3.61781902
25Obstructive lung disease (HP:0006536)3.61781902
26Hyperparathyroidism (HP:0000843)3.55876200
27Scapular winging (HP:0003691)3.53022014
28Selective tooth agenesis (HP:0001592)3.50499976
29Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)3.49424727
30Short 4th metacarpal (HP:0010044)3.49424727
31Mesomelia (HP:0003027)3.48065730
32Dilatation of the ascending aorta (HP:0005111)3.43649018
33Short hallux (HP:0010109)3.41237204
34Eczematoid dermatitis (HP:0000976)3.36680567
35Osteolytic defects of the phalanges of the hand (HP:0009771)3.36061124
36Osteolytic defects of the hand bones (HP:0009699)3.36061124
37Aneurysm (HP:0002617)3.35978839
38Exercise-induced muscle cramps (HP:0003710)3.30242000
39Radial bowing (HP:0002986)3.26882253
40Hepatocellular necrosis (HP:0001404)3.23988559
41Abnormality of the calcaneus (HP:0008364)3.23317272
42Abnormal foot bone ossification (HP:0010675)3.23290814
43Bicuspid aortic valve (HP:0001647)3.20252680
44Muscle hypertrophy of the lower extremities (HP:0008968)3.18884406
45Distal arthrogryposis (HP:0005684)3.17845991
46Spastic diplegia (HP:0001264)3.17580304
47Aplasia/Hypoplasia of the hallux (HP:0008362)3.15255448
48Acute necrotizing encephalopathy (HP:0006965)3.14941182
49Amyloidosis (HP:0011034)3.13147401
50Rhabdomyolysis (HP:0003201)3.12305383
51Persistence of primary teeth (HP:0006335)3.11074829
52Long foot (HP:0001833)3.03866265
53Hemorrhage of the eye (HP:0011885)3.02300906
54Deep venous thrombosis (HP:0002625)3.01818909
55Myopathic facies (HP:0002058)3.01039208
56Hepatic necrosis (HP:0002605)3.00861900
57Asymmetric septal hypertrophy (HP:0001670)2.99737617
58Gingival bleeding (HP:0000225)2.98262643
59Facial diplegia (HP:0001349)2.95038265
60Gastrointestinal infarctions (HP:0005244)2.93616211
61Abnormality of macrophages (HP:0004311)2.93360619
62Abnormality of the 2nd finger (HP:0004100)2.90497861
63Congenital, generalized hypertrichosis (HP:0004540)2.90082484
64Round ear (HP:0100830)2.88935887
65Mitochondrial inheritance (HP:0001427)2.83184952
66Abnormal mitochondria in muscle tissue (HP:0008316)2.81052949
67Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.80936552
68Acute encephalopathy (HP:0006846)2.79993824
69Muscle fiber splitting (HP:0003555)2.72586470
70Calf muscle hypertrophy (HP:0008981)2.71041076
71Fused cervical vertebrae (HP:0002949)2.70040132
72Myoglobinuria (HP:0002913)2.69556398
73Cerebral palsy (HP:0100021)2.67993086
74Bowed forearm bones (HP:0003956)2.67068331
75Bowing of the arm (HP:0006488)2.67068331
76Joint hemorrhage (HP:0005261)2.63650752
77Abnormality of the right ventricle (HP:0001707)2.61226673
78Chest pain (HP:0100749)2.60818933
79Abnormality of oral frenula (HP:0000190)2.60045539
80Recurrent gram-negative bacterial infections (HP:0005420)2.60027065
81Progressive macrocephaly (HP:0004481)2.59568908
82Type 1 muscle fiber predominance (HP:0003803)2.58038251
83Elbow flexion contracture (HP:0002987)2.57340482
84Camptodactyly of toe (HP:0001836)2.56125125
85Petechiae (HP:0000967)2.54101663
86Spontaneous abortion (HP:0005268)2.52415944
87Intestinal malrotation (HP:0002566)2.49039109
88Knee flexion contracture (HP:0006380)2.48435347
89Hypobetalipoproteinemia (HP:0003563)2.47045989
90Subaortic stenosis (HP:0001682)2.46678954
91Abnormality of the left ventricular outflow tract (HP:0011103)2.46678954
92EMG: myopathic abnormalities (HP:0003458)2.45320271
93Gangrene (HP:0100758)2.45035763
94Tarsal synostosis (HP:0008368)2.44832128
95Ureteral stenosis (HP:0000071)2.44363640
96Muscle stiffness (HP:0003552)2.43760131
97Abnormality of the 4th metacarpal (HP:0010012)2.43119582
98Abnormality of the axillary hair (HP:0100134)2.41916737
99Abnormality of secondary sexual hair (HP:0009888)2.41916737
100Abnormal ossification of hand bones (HP:0005921)2.41661886
101Vacuolated lymphocytes (HP:0001922)2.37969816
102Abnormality of the common coagulation pathway (HP:0010990)2.37676277
103Hemoptysis (HP:0002105)2.37422689
104Chronic mucocutaneous candidiasis (HP:0002728)2.36729577
105Recurrent cutaneous fungal infections (HP:0011370)2.36729577
106Epistaxis (HP:0000421)2.35922319
107Abnormality of the pleura (HP:0002103)2.34761823
108Stroke (HP:0001297)2.33972607
109Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.33415093
110Decreased activity of mitochondrial respiratory chain (HP:0008972)2.33415093
111Abnormality of skeletal muscle fiber size (HP:0012084)2.33111947
112Tachypnea (HP:0002789)2.30391624
113Recurrent abscess formation (HP:0002722)2.29424307
114Increased mean platelet volume (HP:0011877)2.28882936
115Increased CSF lactate (HP:0002490)2.28841467
116Vasculitis (HP:0002633)2.25965568
117Meningitis (HP:0001287)2.22737238
118Ulnar deviation of the wrist (HP:0003049)2.20571637
119Ureteral obstruction (HP:0006000)2.19715789
1203-Methylglutaconic aciduria (HP:0003535)2.19400251
121Increased neuronal autofluorescent lipopigment (HP:0002074)2.18897236
122Elevated erythrocyte sedimentation rate (HP:0003565)2.18693108
123Synostosis involving bones of the lower limbs (HP:0009138)2.17761681
124Synostosis involving bones of the feet (HP:0009140)2.17761681
125Distal lower limb muscle weakness (HP:0009053)2.17683953
126Glossoptosis (HP:0000162)2.16481155
127Recurrent bacterial skin infections (HP:0005406)2.16186728
128Fatigue (HP:0012378)2.15738346
129Dysostosis multiplex (HP:0000943)2.15556017
130Testicular atrophy (HP:0000029)2.14998655
131Abnormality of the shoulder girdle musculature (HP:0001435)2.14928244
132Exertional dyspnea (HP:0002875)2.13348768
133Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.12184984
134Centrally nucleated skeletal muscle fibers (HP:0003687)2.12053638
135Purpura (HP:0000979)2.10698529
136Thrombophlebitis (HP:0004418)2.10321792
137Systemic lupus erythematosus (HP:0002725)2.10024351
138Fibular hypoplasia (HP:0003038)2.07124024
139Urticaria (HP:0001025)2.05941439
140Polyneuropathy (HP:0001271)2.05542060
141Abnormality of the frontal sinuses (HP:0002687)2.05133884
142Recurrent fungal infections (HP:0002841)2.04562428
143Increased serum ferritin (HP:0003281)2.02476036
144Abnormality of aromatic amino acid family metabolism (HP:0004338)2.00751689
145Synostosis of carpal bones (HP:0005048)2.00122257
146Neck muscle weakness (HP:0000467)2.00037586
147Aortic aneurysm (HP:0004942)10.7302629
148Carpal synostosis (HP:0009702)1.99961390
149Increased muscle lipid content (HP:0009058)1.99926231
150Leukodystrophy (HP:0002415)1.99721531
151Hypothermia (HP:0002045)1.99419902
152Increased intramyocellular lipid droplets (HP:0012240)1.98878796
153Recurrent skin infections (HP:0001581)1.96849749
154Complete atrioventricular canal defect (HP:0001674)1.95779379
155Arterial thrombosis (HP:0004420)1.94623019
156Cerebral edema (HP:0002181)1.92617341
157Increased cerebral lipofuscin (HP:0011813)1.92603290
158Hyporeflexia of lower limbs (HP:0002600)1.92418612
159Abnormal platelet volume (HP:0011876)1.90463293
160Delayed closure of the anterior fontanelle (HP:0001476)1.88219296
161Limb-girdle muscle atrophy (HP:0003797)1.87884623
162Prolonged partial thromboplastin time (HP:0003645)1.86697348
163Absent phalangeal crease (HP:0006109)1.86578045
164Arachnodactyly (HP:0001166)1.86206233
165Hyperglycinuria (HP:0003108)1.86182936
166Abnormality of the odontoid process (HP:0003310)1.85916130
167Mitral valve prolapse (HP:0001634)1.85298184
168Abnormality of the prostate (HP:0008775)1.85256066
169Pruritus (HP:0000989)1.84936461
170Wormian bones (HP:0002645)1.84768260
171Short chin (HP:0000331)1.84719607
172Short clavicles (HP:0000894)1.84428264
173Sudden death (HP:0001699)1.84262972
174Abnormality of monocarboxylic acid metabolism (HP:0010996)1.82374337
175Hydronephrosis (HP:0000126)1.82134174
176Skin rash (HP:0000988)1.80954994
177Abnormality of complement system (HP:0005339)1.80789126
178Abnormality of the distal phalanges of the toes (HP:0010182)1.80738440
179Atrioventricular block (HP:0001678)1.80577190
180Pulmonary infiltrates (HP:0002113)1.80554715
181Broad metatarsal (HP:0001783)1.80517316
182Malignant hyperthermia (HP:0002047)1.80113755
183Absent toe (HP:0010760)1.79901316
184Short humerus (HP:0005792)1.79537394
185Increased variability in muscle fiber diameter (HP:0003557)1.78901952
186Seborrheic dermatitis (HP:0001051)1.78631558
187Aplasia/hypoplasia of the humerus (HP:0006507)1.75100844
188Omphalocele (HP:0001539)1.71682212
189Joint contractures involving the joints of the feet (HP:0100492)1.70539230
190Flexion contracture of toe (HP:0005830)1.70539230
191Right ventricular cardiomyopathy (HP:0011663)1.70473918
192Aplasia/Hypoplasia of the clavicles (HP:0006710)1.66881506
193Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.66794725
194Gout (HP:0001997)1.66123968
195Spinal rigidity (HP:0003306)1.63285020
196Abnormal umbilical cord blood vessels (HP:0011403)1.62957069
197Single umbilical artery (HP:0001195)1.62957069
198Abnormality of the fetal cardiovascular system (HP:0010948)1.62957069

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MYLK8.82641196
2CDK194.65829852
3BMPR24.46807923
4OBSCN4.24532389
5DMPK3.38948365
6PIK3CG2.89809409
7CSF1R2.68041532
8PAK22.65232709
9EPHA22.47335886
10RIPK42.33683426
11MST1R2.07123813
12TTN10.1331344
13MUSK1.95151691
14MAP4K11.89829132
15LMTK21.89367791
16MINK11.72339275
17KIT1.67111294
18TYK21.65154620
19TNK21.65024111
20NUAK11.65023551
21EPHB21.63415979
22DDR21.63355518
23BLK1.52285103
24CAMK2G1.51535843
25ILK1.46800404
26MATK1.44269673
27PAK11.42388919
28LYN1.35905766
29OXSR11.35793896
30FLT31.33048779
31MAP3K21.29316753
32DAPK31.27324880
33IKBKB1.22731947
34RPS6KA21.22710217
35DYRK1B1.22321118
36TRPM71.12615207
37CSK1.12502862
38RAF11.12312938
39SYK1.11676684
40TRIB31.11281030
41MAPKAPK31.10710127
42FGFR31.10233257
43WNK41.09564895
44CDC42BPA1.08473311
45PAK31.07292716
46MAPK121.02570890
47TAOK31.01741651
48ARAF1.00691877
49GRK61.00319333
50FES0.98999807
51BTK0.96932317
52PTK20.95879795
53RPS6KB20.94568750
54CAMK2B0.94086593
55MET0.93180111
56RIPK10.92025591
57ERBB30.89367777
58KSR20.86478209
59JAK10.85175532
60DAPK20.81406835
61PDK10.78573762
62FGR0.78218039
63KDR0.77364139
64EEF2K0.77294947
65GRK50.76304593
66NME20.75159385
67PDPK10.74136584
68BUB10.72880757
69CAMK2D0.72229888
70WNK30.71545165
71JAK30.71372292
72TESK10.70412098
73ZAP700.70336962
74AKT30.70245297
75LCK0.70104916
76DAPK10.69786326
77RPS6KC10.69134453
78RPS6KL10.69134453
79HCK0.68410626
80WNK10.64445482
81ROCK20.63170261
82TLK10.61437802
83PNCK0.61281694
84TEC0.61014866
85GSK3A0.60391564
86ROCK10.59709153
87PIK3CA0.59524713
88MAP3K30.56591530
89RPS6KA60.56521914
90MAP3K10.55731656
91BCKDK0.53734281
92TBK10.53129024
93MAP2K10.52980486
94ITK0.52601085
95GRK10.52412012
96LIMK10.51828994
97TAOK10.51660810
98JAK20.50778523
99PIM20.50685534
100TAOK20.50616563
101TSSK60.49219578
102IGF1R0.48461858
103MAP3K130.47487234
104MAP3K140.47275208
105GRK70.47129093
106FER0.46807531
107PHKG20.46750130
108PHKG10.46750130
109MAPKAPK20.46259746
110EPHB10.45798625
111PRKACB0.44282814
112CAMK10.43615795
113MARK30.43230834
114LRRK20.42040009
115PKN10.40359327
116SCYL20.40157524
117PRKAA20.39896314
118ERN10.39340407
119EGFR0.39274123
120PRKCI0.37936353
121SIK10.36666290
122STK240.35765695
123MAPK40.35339037
124PINK10.35034113
125PRKACG0.34489893
126TXK0.34363743
127INSRR0.33357528
128MAP4K20.32699619
129MOS0.30776913
130IRAK20.28882976
131IRAK40.28804714
132FYN0.27821147
133TGFBR20.26014654
134NTRK10.24909208
135PKN20.24134715
136LATS20.23771260
137PTK60.23634387
138PDGFRA0.22429079
139MAP2K30.21396822
140MAP2K40.21360047
141PAK40.18725704
142PDK40.17077707
143PDK30.17077707
144MTOR0.16118871
145MAP2K20.16104190
146TTK0.13887648
147PAK60.12659439
148WEE10.12612965
149NME10.11941223
150PTK2B0.11246593
151KSR10.10813512
152MAPKAPK50.09448339
153MAP3K120.09301318
154PRKCD0.07893184
155MAPK150.07731737
156STK380.07607397
157TIE10.07523060
158ALK0.07243115
159TYRO30.07009257
160RPS6KA10.06804311
161SRC0.06360404
162MAP2K60.06239348
163FGFR40.05533646
164PRKG10.05173194
165EPHA30.04735079
166CSNK1A1L0.04190779
167PRKCE0.03172878

Predicted pathways (KEGG)

RankGene SetZ-score
1Asthma_Homo sapiens_hsa053106.38186676
2Vascular smooth muscle contraction_Homo sapiens_hsa042705.30474889
3Allograft rejection_Homo sapiens_hsa053304.37999601
4Autoimmune thyroid disease_Homo sapiens_hsa053204.22554275
5Graft-versus-host disease_Homo sapiens_hsa053324.13453268
6Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.72898997
7Intestinal immune network for IgA production_Homo sapiens_hsa046723.62562502
8Type I diabetes mellitus_Homo sapiens_hsa049403.57100156
9Staphylococcus aureus infection_Homo sapiens_hsa051503.31611511
10Viral myocarditis_Homo sapiens_hsa054162.73377375
11Leishmaniasis_Homo sapiens_hsa051402.67660862
12Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.57073060
13Oxidative phosphorylation_Homo sapiens_hsa001902.33618630
14Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.33594384
15Vitamin B6 metabolism_Homo sapiens_hsa007502.28631003
16Antigen processing and presentation_Homo sapiens_hsa046122.25048114
17Phenylalanine metabolism_Homo sapiens_hsa003602.20622660
18Focal adhesion_Homo sapiens_hsa045102.12888879
19Maturity onset diabetes of the young_Homo sapiens_hsa049502.07956497
20Rheumatoid arthritis_Homo sapiens_hsa053231.98641852
21Chemical carcinogenesis_Homo sapiens_hsa052041.93881720
22Tight junction_Homo sapiens_hsa045301.87373654
23Circadian rhythm_Homo sapiens_hsa047101.80427986
24Parkinsons disease_Homo sapiens_hsa050121.78331035
25ECM-receptor interaction_Homo sapiens_hsa045121.77327711
26Platelet activation_Homo sapiens_hsa046111.75077920
27Histidine metabolism_Homo sapiens_hsa003401.73175143
28Oxytocin signaling pathway_Homo sapiens_hsa049211.71511760
29Gastric acid secretion_Homo sapiens_hsa049711.63559741
30Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.59439406
31Glutathione metabolism_Homo sapiens_hsa004801.54090582
32Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.53877888
33Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.51180666
34Fat digestion and absorption_Homo sapiens_hsa049751.50086507
35* Bladder cancer_Homo sapiens_hsa052191.49095317
36Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.46264715
37Proteoglycans in cancer_Homo sapiens_hsa052051.43800212
38Toxoplasmosis_Homo sapiens_hsa051451.43631600
39alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.42542282
40Sulfur metabolism_Homo sapiens_hsa009201.42505064
41Tuberculosis_Homo sapiens_hsa051521.41985718
42Alzheimers disease_Homo sapiens_hsa050101.38809914
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.35021420
44Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.34802017
45Prion diseases_Homo sapiens_hsa050201.30489373
46Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.27248243
47Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.25243848
48beta-Alanine metabolism_Homo sapiens_hsa004101.24870915
49Dilated cardiomyopathy_Homo sapiens_hsa054141.22728871
50Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.16908131
51Sphingolipid metabolism_Homo sapiens_hsa006001.11909450
52Butanoate metabolism_Homo sapiens_hsa006501.08333332
53Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.06585303
54Insulin secretion_Homo sapiens_hsa049111.05253258
55Amoebiasis_Homo sapiens_hsa051461.05009281
56Other glycan degradation_Homo sapiens_hsa005111.04103833
572-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.03378303
58Linoleic acid metabolism_Homo sapiens_hsa005911.00298906
59Hedgehog signaling pathway_Homo sapiens_hsa043400.99086338
60Hematopoietic cell lineage_Homo sapiens_hsa046400.98974367
61Influenza A_Homo sapiens_hsa051640.98267555
62Vibrio cholerae infection_Homo sapiens_hsa051100.98056529
63Proteasome_Homo sapiens_hsa030500.95550512
64Huntingtons disease_Homo sapiens_hsa050160.95265666
65Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.95144549
66Regulation of actin cytoskeleton_Homo sapiens_hsa048100.91874451
67Protein digestion and absorption_Homo sapiens_hsa049740.91761799
68Arginine biosynthesis_Homo sapiens_hsa002200.90257502
69Glucagon signaling pathway_Homo sapiens_hsa049220.88204082
70Tyrosine metabolism_Homo sapiens_hsa003500.87659803
71Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.86609868
72Phagosome_Homo sapiens_hsa041450.85123675
73Lysosome_Homo sapiens_hsa041420.85025596
74Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.84472704
75Hippo signaling pathway_Homo sapiens_hsa043900.83749752
76Leukocyte transendothelial migration_Homo sapiens_hsa046700.82734123
77Systemic lupus erythematosus_Homo sapiens_hsa053220.81890805
78Ribosome_Homo sapiens_hsa030100.81523812
79Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.80626341
80Folate biosynthesis_Homo sapiens_hsa007900.80448918
81GnRH signaling pathway_Homo sapiens_hsa049120.80365695
82Insulin signaling pathway_Homo sapiens_hsa049100.80156901
83NOD-like receptor signaling pathway_Homo sapiens_hsa046210.79992429
84Starch and sucrose metabolism_Homo sapiens_hsa005000.77055259
85Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.76821874
86Long-term potentiation_Homo sapiens_hsa047200.75960968
87Legionellosis_Homo sapiens_hsa051340.75753911
88Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.75515410
89Arginine and proline metabolism_Homo sapiens_hsa003300.74136426
90Nitrogen metabolism_Homo sapiens_hsa009100.73967254
91Estrogen signaling pathway_Homo sapiens_hsa049150.71543097
92Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.71417214
93Collecting duct acid secretion_Homo sapiens_hsa049660.71185771
94Glycosaminoglycan degradation_Homo sapiens_hsa005310.70903306
95Vitamin digestion and absorption_Homo sapiens_hsa049770.70407427
96Arachidonic acid metabolism_Homo sapiens_hsa005900.70119088
97Drug metabolism - other enzymes_Homo sapiens_hsa009830.69730400
98Herpes simplex infection_Homo sapiens_hsa051680.68778873
99Cardiac muscle contraction_Homo sapiens_hsa042600.68591259
100Melanogenesis_Homo sapiens_hsa049160.67979490
101Amphetamine addiction_Homo sapiens_hsa050310.67099612
102Ether lipid metabolism_Homo sapiens_hsa005650.66918226
103Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.66340875
104Calcium signaling pathway_Homo sapiens_hsa040200.65980097
105Bile secretion_Homo sapiens_hsa049760.64457842
106Insulin resistance_Homo sapiens_hsa049310.64039269
107AMPK signaling pathway_Homo sapiens_hsa041520.62903977
108Complement and coagulation cascades_Homo sapiens_hsa046100.62752394
109Oocyte meiosis_Homo sapiens_hsa041140.62613658
110Adipocytokine signaling pathway_Homo sapiens_hsa049200.61469668
111TGF-beta signaling pathway_Homo sapiens_hsa043500.61296999
112Pentose and glucuronate interconversions_Homo sapiens_hsa000400.59581387
113Basal cell carcinoma_Homo sapiens_hsa052170.57310848
114Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.56370151
115PPAR signaling pathway_Homo sapiens_hsa033200.55910581
116Cocaine addiction_Homo sapiens_hsa050300.55605749
117Toll-like receptor signaling pathway_Homo sapiens_hsa046200.54286301
118Longevity regulating pathway - mammal_Homo sapiens_hsa042110.54182736
119African trypanosomiasis_Homo sapiens_hsa051430.52820072
120Thyroid cancer_Homo sapiens_hsa052160.52765683
121Gap junction_Homo sapiens_hsa045400.52316987
122Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.51408833
123Tryptophan metabolism_Homo sapiens_hsa003800.51155801
124Glycerophospholipid metabolism_Homo sapiens_hsa005640.49675977
125Salmonella infection_Homo sapiens_hsa051320.47956632
126Galactose metabolism_Homo sapiens_hsa000520.47502114
127Fatty acid degradation_Homo sapiens_hsa000710.46781407
128Pertussis_Homo sapiens_hsa051330.46574706
129Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.45283262
130Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.44482528
131SNARE interactions in vesicular transport_Homo sapiens_hsa041300.44249995
132Cyanoamino acid metabolism_Homo sapiens_hsa004600.43449831
133Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.43057368
134GABAergic synapse_Homo sapiens_hsa047270.42423427
135Shigellosis_Homo sapiens_hsa051310.42080935
136Osteoclast differentiation_Homo sapiens_hsa043800.41813494
137Sphingolipid signaling pathway_Homo sapiens_hsa040710.40078429
138Circadian entrainment_Homo sapiens_hsa047130.39859055
139Steroid hormone biosynthesis_Homo sapiens_hsa001400.39776452
140Adherens junction_Homo sapiens_hsa045200.39111894
141AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.38837193
142VEGF signaling pathway_Homo sapiens_hsa043700.37867737
143Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.37770650
144Protein export_Homo sapiens_hsa030600.37007473
145Carbon metabolism_Homo sapiens_hsa012000.34855675
146Thyroid hormone synthesis_Homo sapiens_hsa049180.34218539
147Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.33337360
148Synaptic vesicle cycle_Homo sapiens_hsa047210.33210904
149Pancreatic secretion_Homo sapiens_hsa049720.32001973
150Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.31728645
151Regulation of autophagy_Homo sapiens_hsa041400.30934834
152Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.30485428
153Biosynthesis of amino acids_Homo sapiens_hsa012300.30086961
154Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.25176111
155Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.25082081
156Retinol metabolism_Homo sapiens_hsa008300.24316636
157Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.22035746
158Pentose phosphate pathway_Homo sapiens_hsa000300.21190991
159Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.20577948
160Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.16574110
161Primary bile acid biosynthesis_Homo sapiens_hsa001200.15570083
162Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.11704159
163Metabolic pathways_Homo sapiens_hsa011000.11320995
164Epstein-Barr virus infection_Homo sapiens_hsa051690.10365023
165Fatty acid metabolism_Homo sapiens_hsa012120.08658648

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