PRB1

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 heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature peptides before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the 'Medium' allele. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1peptide cross-linking (GO:0018149)9.47436048
2sarcoplasmic reticulum calcium ion transport (GO:0070296)8.82842039
3regulation of keratinocyte differentiation (GO:0045616)7.76751102
4magnesium ion transport (GO:0015693)7.52800621
5cell-cell junction maintenance (GO:0045217)7.39988550
6calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)7.13052728
7response to vitamin A (GO:0033189)6.88005550
8regulation of toll-like receptor 4 signaling pathway (GO:0034143)6.87422248
9ovulation from ovarian follicle (GO:0001542)6.78014661
10regulation of relaxation of muscle (GO:1901077)6.57373010
11muscle organ morphogenesis (GO:0048644)6.12063985
12platelet dense granule organization (GO:0060155)5.99012308
13skeletal muscle contraction (GO:0003009)5.93505140
14cell junction maintenance (GO:0034331)5.91112717
15long-chain fatty acid biosynthetic process (GO:0042759)5.90133261
16cytokine production involved in immune response (GO:0002367)5.86683220
17keratinocyte differentiation (GO:0030216)5.77184703
18purine nucleotide salvage (GO:0032261)5.67370882
19positive regulation of gastrulation (GO:2000543)5.62949106
20regulation of skeletal muscle contraction (GO:0014819)5.58148667
21regulation of secondary heart field cardioblast proliferation (GO:0003266)5.55715265
22regulation of cardioblast proliferation (GO:0003264)5.55715265
23regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033395.34089933
24actin-myosin filament sliding (GO:0033275)5.33846999
25muscle filament sliding (GO:0030049)5.33846999
26regulation of skeletal muscle cell differentiation (GO:2001014)5.30142423
27embryonic heart tube development (GO:0035050)5.29473869
28innate immune response in mucosa (GO:0002227)5.20407698
29tooth mineralization (GO:0034505)5.07336945
30outer ear morphogenesis (GO:0042473)5.05531023
31coronary vasculature morphogenesis (GO:0060977)5.03892813
32regulation of regulatory T cell differentiation (GO:0045589)4.96126009
33positive regulation of vesicle fusion (GO:0031340)4.91095387
34lymph vessel development (GO:0001945)4.90734226
35linoleic acid metabolic process (GO:0043651)4.86966540
36regulation of gastrulation (GO:0010470)4.83632724
37arginine catabolic process (GO:0006527)4.80758252
38regulation of epidermal cell differentiation (GO:0045604)4.75813944
39cellular response to epidermal growth factor stimulus (GO:0071364)4.66665777
40regulation of Wnt signaling pathway involved in heart development (GO:0003307)4.66047908
41cellular response to retinoic acid (GO:0071300)4.59666793
42mitochondrial calcium ion transport (GO:0006851)4.59112766
43establishment of endothelial barrier (GO:0061028)4.58004813
44regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00434.56901516
45regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)4.48294242
46mRNA transcription from RNA polymerase II promoter (GO:0042789)4.46777455
47actin-mediated cell contraction (GO:0070252)4.41362972
48glutathione biosynthetic process (GO:0006750)4.40707965
49organelle disassembly (GO:1903008)4.38868001
50T cell mediated immunity (GO:0002456)4.34002636
51negative regulation of toll-like receptor signaling pathway (GO:0034122)4.31570017
52tyrosine phosphorylation of STAT protein (GO:0007260)4.31331722
53nephron tubule formation (GO:0072079)4.29085305
54nitric oxide mediated signal transduction (GO:0007263)4.25116274
55positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003604.17910768
56Peyers patch development (GO:0048541)4.17361249
57mucosal-associated lymphoid tissue development (GO:0048537)4.17361249
58peptide catabolic process (GO:0043171)4.16419124
59negative regulation of metanephros development (GO:0072217)4.15814727
60membrane raft organization (GO:0031579)4.13868262
61mucosal immune response (GO:0002385)4.12521195
62negative regulation of thymocyte apoptotic process (GO:0070244)4.10833758
63production of molecular mediator of immune response (GO:0002440)4.09596243
64ear development (GO:0043583)4.08539287
65ovulation (GO:0030728)4.07080765
66nonribosomal peptide biosynthetic process (GO:0019184)4.05074581
67regulation of penile erection (GO:0060405)4.05028007
68regulation of protein kinase C signaling (GO:0090036)4.00840665
69muscle cell fate commitment (GO:0042693)3.99308189
70heart valve formation (GO:0003188)3.95288542
71epidermal cell differentiation (GO:0009913)3.94485315
72creatine metabolic process (GO:0006600)3.92020505
73organ or tissue specific immune response (GO:0002251)3.89899189
74histamine secretion (GO:0001821)3.89808776
75cellular response to glucocorticoid stimulus (GO:0071385)3.88864957
76pattern specification involved in kidney development (GO:0061004)3.88673203
77negative regulation of calcium ion transmembrane transport (GO:1903170)3.86825029
78negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.86825029
79mRNA transcription (GO:0009299)3.85484360
80mitotic G1/S transition checkpoint (GO:0044819)3.84131258
81positive regulation of protein depolymerization (GO:1901881)3.83860966
82embryonic viscerocranium morphogenesis (GO:0048703)3.83365861
83cranial nerve morphogenesis (GO:0021602)3.82576814
84cellular component maintenance (GO:0043954)3.79679026
85response to epidermal growth factor (GO:0070849)3.79212087
86mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.78558991
87endoderm formation (GO:0001706)3.76560234
88cellular response to corticosteroid stimulus (GO:0071384)3.74542531
89hormone catabolic process (GO:0042447)3.74161031
90dorsal/ventral neural tube patterning (GO:0021904)3.72152680
91regulation of heterotypic cell-cell adhesion (GO:0034114)3.67608075
92histamine transport (GO:0051608)3.62533691
93plasma membrane repair (GO:0001778)3.61305472
94negative regulation of cell fate specification (GO:0009996)3.58799655
95inositol phosphate-mediated signaling (GO:0048016)3.58217961
96regulation of apoptotic process involved in morphogenesis (GO:1902337)3.56367747
97negative regulation of T cell mediated immunity (GO:0002710)3.55499291
98negative regulation of mesenchymal cell apoptotic process (GO:2001054)3.54751306
99lipoxygenase pathway (GO:0019372)3.54747092
100tolerance induction (GO:0002507)3.53141234
101embryonic foregut morphogenesis (GO:0048617)3.52633105
102establishment of skin barrier (GO:0061436)3.51348013
103positive regulation of myotube differentiation (GO:0010831)3.50094969
104regulation of mesoderm development (GO:2000380)3.50064945
105endothelial cell development (GO:0001885)3.49960741
106microtubule depolymerization (GO:0007019)3.44170888
107diaphragm development (GO:0060539)3.43996157
108actin filament-based movement (GO:0030048)3.38721226
109cGMP-mediated signaling (GO:0019934)3.37143349
110striated muscle contraction (GO:0006941)3.36410545
111mature B cell differentiation involved in immune response (GO:0002313)3.35790266
112metanephric tubule development (GO:0072170)3.35638789
113metanephric nephron tubule development (GO:0072234)3.35638789
114myotube differentiation (GO:0014902)3.32230287
115arginine metabolic process (GO:0006525)3.27499485
116regulation of epidermis development (GO:0045682)3.25908026
117peptide biosynthetic process (GO:0043043)3.24812359
118regulation of transcription involved in cell fate commitment (GO:0060850)3.24675464
119regulation of germinal center formation (GO:0002634)3.24366863
120positive regulation of skeletal muscle tissue development (GO:0048643)3.24211528
121response to protozoan (GO:0001562)3.23716444
122heart trabecula formation (GO:0060347)3.23527690
123response to vitamin E (GO:0033197)3.23193244
124negative regulation of B cell apoptotic process (GO:0002903)3.23027535
125establishment of epithelial cell polarity (GO:0090162)3.21746200
126mannosylation (GO:0097502)3.21275157
127neural tube formation (GO:0001841)3.21077975
128mesonephros development (GO:0001823)3.20507679
129positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)3.19467052
130positive regulation of cell cycle G2/M phase transition (GO:1902751)3.19467052
131parturition (GO:0007567)3.17607962
132glycosphingolipid catabolic process (GO:0046479)3.17213691
133positive regulation of fatty acid beta-oxidation (GO:0032000)3.16693702
134amyloid precursor protein catabolic process (GO:0042987)3.14933153
135regulation of water loss via skin (GO:0033561)3.14218047
136tricarboxylic acid cycle (GO:0006099)3.13624718
137lipoprotein metabolic process (GO:0042157)3.13306499
138positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)3.11905970
139exogenous drug catabolic process (GO:0042738)3.11081385
140positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.11058405
141nephron tubule development (GO:0072080)3.09605535
142desmosome organization (GO:0002934)3.09455871
143positive regulation of T cell differentiation in thymus (GO:0033089)3.09104925
144negative regulation of T cell differentiation in thymus (GO:0033085)3.08513376
145detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)3.08268261
146negative regulation of lipid storage (GO:0010888)3.03744444
147defense response to protozoan (GO:0042832)3.03082310
148myofibril assembly (GO:0030239)3.01384404
149keratinization (GO:0031424)20.3824741
150adenosine metabolic process (GO:0046085)2.99933674
151bundle of His cell to Purkinje myocyte communication (GO:0086069)2.96362745
152sarcomere organization (GO:0045214)2.96247720
153cytolysis (GO:0019835)2.95860002
154disruption of cells of other organism (GO:0044364)2.95546375
155killing of cells of other organism (GO:0031640)2.95546375
156skeletal muscle organ development (GO:0060538)2.95158893
157pharyngeal system development (GO:0060037)2.94861807
158negative regulation of fatty acid transport (GO:2000192)2.94815540
159metanephric nephron epithelium development (GO:0072243)2.94305070
160urogenital system development (GO:0001655)2.94044229
161regulation of stem cell maintenance (GO:2000036)2.91858820
162skeletal muscle fiber development (GO:0048741)2.91758178
163glomerular basement membrane development (GO:0032836)2.91465160
164negative regulation of T cell apoptotic process (GO:0070233)2.90138633
165response to muscle activity (GO:0014850)2.89903248
166synaptic vesicle endocytosis (GO:0048488)2.89184586
167embryonic epithelial tube formation (GO:0001838)2.87609605
168maintenance of protein location in nucleus (GO:0051457)2.86144683
169positive regulation of histone acetylation (GO:0035066)2.85840541
170regulation of cell proliferation involved in heart morphogenesis (GO:2000136)2.85740941
171glycolipid catabolic process (GO:0019377)2.84906756
172high-density lipoprotein particle remodeling (GO:0034375)2.83663773
173regulation of calcium ion transmembrane transport (GO:1903169)2.81438390
174regulation of calcium ion transmembrane transporter activity (GO:1901019)2.81438390
175renal system development (GO:0072001)2.80915219
176cellular response to ATP (GO:0071318)2.80603791
177regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.75269828
178negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.75157152
179skeletal muscle adaptation (GO:0043501)2.73293481
180cochlea morphogenesis (GO:0090103)2.72474001
181regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.71449678
182outflow tract septum morphogenesis (GO:0003148)2.71411107
183positive regulation of protein complex disassembly (GO:0043243)2.71122017
184purine nucleobase biosynthetic process (GO:0009113)2.68421571
185otic vesicle formation (GO:0030916)2.67714868
186regulation of mesenchymal cell apoptotic process (GO:2001053)2.64756348
187transcytosis (GO:0045056)2.61523798
188negative regulation of ion transmembrane transporter activity (GO:0032413)2.60323311
189muscle contraction (GO:0006936)2.58624949
190regulation of acyl-CoA biosynthetic process (GO:0050812)2.58087324
191positive regulation of heart rate (GO:0010460)2.57970986
192nucleotide salvage (GO:0043173)2.56563197
193negative regulation of digestive system process (GO:0060457)2.53026347
194negative regulation of circadian rhythm (GO:0042754)2.52633470
195cell wall macromolecule metabolic process (GO:0044036)14.2630676
196cell wall macromolecule catabolic process (GO:0016998)14.2630676
197negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)13.3767099
198iron coordination entity transport (GO:1901678)10.4987645

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat9.92705021
2ZNF652_21678463_ChIP-ChIP_ZR75-1_Human8.13409455
3TP63_17297297_ChIP-ChIP_HaCaT_Human7.97734002
4ESR1_15608294_ChIP-ChIP_MCF-7_Human6.37724706
5SRY_22984422_ChIP-ChIP_TESTIS_Rat4.23252132
6RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.64501817
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.25461941
8ZIC3_20872845_ChIP-ChIP_MESCs_Mouse2.99336781
9TRIM28_21343339_ChIP-Seq_HEK293_Human2.98324191
10ESR1_21235772_ChIP-Seq_MCF-7_Human2.98013575
11IRF8_22096565_ChIP-ChIP_GC-B_Human2.82500496
12CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.79582140
13CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.58834165
14EGR1_19374776_ChIP-ChIP_THP-1_Human2.37464667
15CTCF_27219007_Chip-Seq_Bcells_Human2.24167666
16ESR2_21235772_ChIP-Seq_MCF-7_Human2.16927757
17CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.16916294
18CDX2_20551321_ChIP-Seq_CACO-2_Human2.10261379
19TP53_16413492_ChIP-PET_HCT116_Human2.02364751
20NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.00331599
21RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.93624957
22CTCF_20526341_ChIP-Seq_ESCs_Human1.93248424
23VDR_22108803_ChIP-Seq_LS180_Human1.88024421
24ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.81864022
25RARG_19884340_ChIP-ChIP_MEFs_Mouse1.80128272
26IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.74014665
27TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.73372455
28ERG_20517297_ChIP-Seq_VCAP_Human1.71288676
29RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.63159368
30SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.62817275
31CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.59970054
32SUZ12_27294783_Chip-Seq_ESCs_Mouse1.58688179
33EZH2_22144423_ChIP-Seq_EOC_Human1.55179879
34BCL6_27268052_Chip-Seq_Bcells_Human1.53205277
35EZH2_27304074_Chip-Seq_ESCs_Mouse1.52873232
36VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.52232238
37FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.50255131
38ESR1_20079471_ChIP-ChIP_T-47D_Human1.50183746
39JARID2_20075857_ChIP-Seq_MESCs_Mouse1.49802379
40STAT1_20625510_ChIP-Seq_HELA_Human1.48276731
41TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.47953971
42IRF1_19129219_ChIP-ChIP_H3396_Human1.47068190
43JARID2_20064375_ChIP-Seq_MESCs_Mouse1.46137961
44FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.45644259
45SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.43034946
46SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.42814809
47STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.40878095
48RNF2_18974828_ChIP-Seq_MESCs_Mouse1.38830535
49EZH2_18974828_ChIP-Seq_MESCs_Mouse1.38830535
50* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.37437159
51TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.36703551
52SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.35598772
53BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.35585850
54ELF1_20517297_ChIP-Seq_JURKAT_Human1.35313536
55HIF1A_21447827_ChIP-Seq_MCF-7_Human1.33695850
56MTF2_20144788_ChIP-Seq_MESCs_Mouse1.33437773
57EZH2_27294783_Chip-Seq_ESCs_Mouse1.32992355
58SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.32449928
59DNAJC2_21179169_ChIP-ChIP_NT2_Human1.31680229
60ERG_21242973_ChIP-ChIP_JURKAT_Human1.28498330
61EGR1_19032775_ChIP-ChIP_M12_Human1.27939707
62RACK7_27058665_Chip-Seq_MCF-7_Human1.25775726
63P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.25328292
64GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.24454996
65PCGF2_27294783_Chip-Seq_NPCs_Mouse1.24169456
66PCGF2_27294783_Chip-Seq_ESCs_Mouse1.24044483
67CJUN_26792858_Chip-Seq_BT549_Human1.23422141
68P63_26484246_Chip-Seq_KERATINOCYTES_Human1.22364398
69KLF5_25053715_ChIP-Seq_YYC3_Human1.22151691
70THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.21725656
71SCL_19346495_ChIP-Seq_HPC-7_Human1.21625739
72CLOCK_20551151_ChIP-Seq_293T_Human1.20373239
73SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.20343590
74EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.20044671
75BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.19436337
76GATA6_21074721_ChIP-Seq_CACO-2_Human1.18456766
77* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.18397576
78RXR_22158963_ChIP-Seq_LIVER_Mouse1.17739381
79ZNF263_19887448_ChIP-Seq_K562_Human1.17634695
80TDRD3_21172665_ChIP-Seq_MCF-7_Human1.15738059
81STAT6_21828071_ChIP-Seq_BEAS2B_Human1.13849331
82FOXH1_21741376_ChIP-Seq_ESCs_Human1.11501790
83NOTCH1_21737748_ChIP-Seq_TLL_Human1.10758463
84ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.10639707
85TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.10538515
86TP53_20018659_ChIP-ChIP_R1E_Mouse1.07142145
87SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.05704998
88RXR_22108803_ChIP-Seq_LS180_Human1.05643961
89TP53_23651856_ChIP-Seq_MEFs_Mouse1.05589843
90PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.05327939
91RAC3_21632823_ChIP-Seq_H3396_Human1.03483519
92STAT1_17558387_ChIP-Seq_HELA_Human1.03479415
93DROSHA_22980978_ChIP-Seq_HELA_Human1.03403907
94OCT1_27270436_Chip-Seq_PROSTATE_Human1.02835349
95CEBPB_22108803_ChIP-Seq_LS180_Human1.02782736
96MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.02225718
97GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01510202
98SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.01377669
99LXR_22292898_ChIP-Seq_THP-1_Human1.01357873
100CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.01336918
101VDR_24787735_ChIP-Seq_THP-1_Human1.01170024
102SOX2_20726797_ChIP-Seq_SW620_Human1.00546467
103CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.00022589
104AR_21572438_ChIP-Seq_LNCaP_Human0.99756881
105RNF2_27304074_Chip-Seq_ESCs_Mouse0.99494078
106PPARA_22158963_ChIP-Seq_LIVER_Mouse0.99146158
107SMC4_20622854_ChIP-Seq_HELA_Human0.98700227
108RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.97777708
109KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.97430572
110SPI1_20517297_ChIP-Seq_HL60_Human0.97306815
111FOXO3_23340844_ChIP-Seq_DLD1_Human0.97103631
112GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96708064
113ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.96018247
114SA1_27219007_Chip-Seq_ERYTHROID_Human0.94599418
115RARB_27405468_Chip-Seq_BRAIN_Mouse0.94077895
116BCOR_27268052_Chip-Seq_Bcells_Human0.93462317
117P68_20966046_ChIP-Seq_HELA_Human0.93174711
118OCT4_20526341_ChIP-Seq_ESCs_Human0.92708923
119TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.92584036
120BCAT_22108803_ChIP-Seq_LS180_Human0.92371163
121LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92266227
122HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.92160075
123E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.92093643
124SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.91372137
125CTCF_21964334_ChIP-Seq_BJAB-B_Human0.90717250
126ZNF274_21170338_ChIP-Seq_K562_Hela0.90005932
127EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.89397846
128CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.88755630
129ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.88225451
130GATA3_24758297_ChIP-Seq_MCF-7_Human0.87787802
131ZFP281_18757296_ChIP-ChIP_E14_Mouse0.87717476
132P53_21459846_ChIP-Seq_SAOS-2_Human0.87703587
133FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.87307575
134TBX20_22328084_ChIP-Seq_HEART_Mouse0.87218150
135TBX20_22080862_ChIP-Seq_HEART_Mouse0.87218150
136TAF2_19829295_ChIP-Seq_ESCs_Human0.87018998
137PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.86950886
138KDM2B_26808549_Chip-Seq_DND41_Human0.85711997
139TP53_22127205_ChIP-Seq_IMR90_Human0.85239911
140SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.84175694
141MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.84145991
142RING1B_27294783_Chip-Seq_ESCs_Mouse0.84047790
143UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.84020186
144TP63_19390658_ChIP-ChIP_HaCaT_Human0.84013788
145SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.83497297
146SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.83497297
147ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.82683388
148SUZ12_27294783_Chip-Seq_NPCs_Mouse0.82486102
149PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.82109340
150VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.82085496
151SMAD4_21741376_ChIP-Seq_HESCs_Human0.81854752
152AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.81610437
153AR_25329375_ChIP-Seq_VCAP_Human0.81452618
154YY1_22570637_ChIP-Seq_MALME-3M_Human0.79730955
155SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.79508593
156LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.79168991
157EED_16625203_ChIP-ChIP_MESCs_Mouse0.79143342
158TCF4_22108803_ChIP-Seq_LS180_Human0.79011116
159GATA3_21878914_ChIP-Seq_MCF-7_Human0.79003817
160* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.78650119
161RUNX1_27514584_Chip-Seq_MCF-7_Human0.78604338
162ZNF217_24962896_ChIP-Seq_MCF-7_Human0.78429402
163CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.78219111
164KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.78053578
165GATA2_21666600_ChIP-Seq_HMVEC_Human0.77683699
166CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.77583461
167ERA_21632823_ChIP-Seq_H3396_Human0.77559633
168LXR_22158963_ChIP-Seq_LIVER_Mouse0.77278552
169SMAD4_21741376_ChIP-Seq_ESCs_Human0.76740633
170SA1_27219007_Chip-Seq_Bcells_Human0.75130721
171GATA1_22025678_ChIP-Seq_K562_Human0.74271382
172ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.74124514
173TP63_22573176_ChIP-Seq_HFKS_Human0.72610997
174HOXB7_26014856_ChIP-Seq_BT474_Human0.72387653
175GATA3_21867929_ChIP-Seq_CD8_Mouse0.70701488

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002234_abnormal_pharynx_morphology5.59724808
2MP0000751_myopathy5.19691114
3MP0002796_impaired_skin_barrier4.98679700
4MP0005645_abnormal_hypothalamus_physiol4.82901556
5MP0003646_muscle_fatigue4.73985824
6MP0002877_abnormal_melanocyte_morpholog4.58575557
7MP0005275_abnormal_skin_tensile4.17865348
8MP0000749_muscle_degeneration3.95068054
9MP0005083_abnormal_biliary_tract3.80538818
10MP0000467_abnormal_esophagus_morphology3.72041954
11MP0001501_abnormal_sleep_pattern3.67680608
12MP0000762_abnormal_tongue_morphology3.39851505
13MP0002837_dystrophic_cardiac_calcinosis3.36548572
14MP0004019_abnormal_vitamin_homeostasis3.33933072
15MP0009840_abnormal_foam_cell3.17595646
16MP0004145_abnormal_muscle_electrophysio2.93852851
17MP0003828_pulmonary_edema2.93693705
18MP0003183_abnormal_peptide_metabolism2.85101666
19MP0009697_abnormal_copulation2.77308016
20MP0000747_muscle_weakness2.75354080
21MP0005501_abnormal_skin_physiology2.74335682
22MP0000759_abnormal_skeletal_muscle2.55511474
23MP0005503_abnormal_tendon_morphology2.55407448
24MP0001873_stomach_inflammation2.51780776
25MP0002106_abnormal_muscle_physiology2.48856198
26MP0009333_abnormal_splenocyte_physiolog2.32212026
27MP0002095_abnormal_skin_pigmentation2.26455581
28MP0005084_abnormal_gallbladder_morpholo2.23825768
29MP0004130_abnormal_muscle_cell2.22801825
30MP0000678_abnormal_parathyroid_gland2.22549582
31MP0001243_abnormal_dermal_layer2.14836421
32MP0004087_abnormal_muscle_fiber2.06957468
33MP0002160_abnormal_reproductive_system2.01839526
34MP0005257_abnormal_intraocular_pressure2.01720255
35MP0005369_muscle_phenotype2.01501094
36MP0003252_abnormal_bile_duct2.01111888
37MP0004185_abnormal_adipocyte_glucose2.00791905
38MP0000750_abnormal_muscle_regeneration1.99198566
39MP0004270_analgesia1.90671472
40MP0004036_abnormal_muscle_relaxation1.87037868
41MP0000371_diluted_coat_color1.85717016
42MP0010234_abnormal_vibrissa_follicle1.82216985
43MP0003879_abnormal_hair_cell1.81496742
44MP0000733_abnormal_muscle_development1.78961346
45MP0005620_abnormal_muscle_contractility1.72215257
46MP0005389_reproductive_system_phenotype1.70291066
47MP0002332_abnormal_exercise_endurance1.68242412
48MP0002269_muscular_atrophy1.66353256
49MP0002249_abnormal_larynx_morphology1.66202578
50MP0001919_abnormal_reproductive_system1.59800658
51MP0001502_abnormal_circadian_rhythm1.53855826
52MP0000685_abnormal_immune_system1.51319027
53MP0005197_abnormal_uvea_morphology1.48875139
54MP0000470_abnormal_stomach_morphology1.47905506
55MP0001879_abnormal_lymphatic_vessel1.47113861
56MP0001756_abnormal_urination1.44271009
57MP0005666_abnormal_adipose_tissue1.40289708
58MP0003943_abnormal_hepatobiliary_system1.35011752
59MP0002277_abnormal_respiratory_mucosa1.34494270
60MP0002136_abnormal_kidney_physiology1.32942173
61MP0005330_cardiomyopathy1.31323135
62MP0006036_abnormal_mitochondrial_physio1.30984365
63MP0006292_abnormal_olfactory_placode1.29192687
64MP0003436_decreased_susceptibility_to1.29116917
65MP0003705_abnormal_hypodermis_morpholog1.27468222
66MP0005646_abnormal_pituitary_gland1.27168340
67MP0005266_abnormal_metabolism1.25651915
68MP0002127_abnormal_cardiovascular_syste1.24906992
69MP0000534_abnormal_ureter_morphology1.24893159
70MP0003045_fibrosis1.20681115
71MP0002972_abnormal_cardiac_muscle1.18621115
72MP0000639_abnormal_adrenal_gland1.18484825
73MP0000579_abnormal_nail_morphology1.14773954
74MP0003938_abnormal_ear_development1.13409133
75MP0002928_abnormal_bile_duct1.13129160
76MP0003806_abnormal_nucleotide_metabolis1.12702003
77MP0001765_abnormal_ion_homeostasis1.10612209
78MP0010771_integument_phenotype1.10552608
79MP0009643_abnormal_urine_homeostasis1.09531723
80MP0008872_abnormal_physiological_respon1.08702263
81MP0009785_altered_susceptibility_to1.05095032
82MP0005167_abnormal_blood-brain_barrier1.04995376
83MP0003191_abnormal_cellular_cholesterol1.04820657
84MP0001881_abnormal_mammary_gland1.03575869
85MP0010329_abnormal_lipoprotein_level1.02523051
86MP0001216_abnormal_epidermal_layer1.02473116
87MP0004782_abnormal_surfactant_physiolog1.00912249
88MP0005584_abnormal_enzyme/coenzyme_acti1.00014997
89MP0002184_abnormal_innervation0.99369022
90MP0005332_abnormal_amino_acid0.97542966
91MP0004233_abnormal_muscle_weight0.97073254
92MP0004215_abnormal_myocardial_fiber0.96828400
93MP0002254_reproductive_system_inflammat0.96434970
94MP0004084_abnormal_cardiac_muscle0.95067681
95MP0000647_abnormal_sebaceous_gland0.94812915
96MP0003638_abnormal_response/metabolism_0.93606745
97MP0002075_abnormal_coat/hair_pigmentati0.93495425
98MP0000049_abnormal_middle_ear0.92641045
99MP0005375_adipose_tissue_phenotype0.90741412
100MP0003221_abnormal_cardiomyocyte_apopto0.89486719
101MP0001663_abnormal_digestive_system0.89478418
102MP0001299_abnormal_eye_distance/0.89342575
103MP0001851_eye_inflammation0.89215434
104MP0000003_abnormal_adipose_tissue0.89162689
105MP0006054_spinal_hemorrhage0.88792909
106MP0004484_altered_response_of0.88689861
107MP0005365_abnormal_bile_salt0.87486294
108MP0004947_skin_inflammation0.86937217
109MP0001533_abnormal_skeleton_physiology0.84972504
110MP0004264_abnormal_extraembryonic_tissu0.84453460
111MP0005390_skeleton_phenotype0.82830188
112MP0003866_abnormal_defecation0.82778760
113MP0005025_abnormal_response_to0.81616517
114MP0002876_abnormal_thyroid_physiology0.81344087
115MP0005451_abnormal_body_composition0.81120947
116MP0002733_abnormal_thermal_nociception0.80929727
117MP0002405_respiratory_system_inflammati0.78470719
118MP0000613_abnormal_salivary_gland0.78212433
119MP0000427_abnormal_hair_cycle0.75030452
120MP0003656_abnormal_erythrocyte_physiolo0.74520668
121MP0002108_abnormal_muscle_morphology0.74187166
122MP0005381_digestive/alimentary_phenotyp0.73799710
123MP0008961_abnormal_basal_metabolism0.71766720
124MP0002909_abnormal_adrenal_gland0.71698624
125MP0002971_abnormal_brown_adipose0.71618181
126MP0003936_abnormal_reproductive_system0.71016235
127MP0004859_abnormal_synaptic_plasticity0.70848373
128MP0009763_increased_sensitivity_to0.70786092
129MP0004272_abnormal_basement_membrane0.70056623
130MP0002295_abnormal_pulmonary_circulatio0.69934898
131MP0001544_abnormal_cardiovascular_syste0.68320016
132MP0005385_cardiovascular_system_phenoty0.68320016
133MP0000372_irregular_coat_pigmentation0.68270281
134MP0002139_abnormal_hepatobiliary_system0.67239972
135MP0001191_abnormal_skin_condition0.66425490
136MP0010630_abnormal_cardiac_muscle0.65861701
137MP0003137_abnormal_impulse_conducting0.65337712
138MP0005636_abnormal_mineral_homeostasis0.63581855
139MP0001186_pigmentation_phenotype0.63147601
140MP0000367_abnormal_coat/_hair0.62226554
141MP0008569_lethality_at_weaning0.62058635
142MP0009250_abnormal_appendicular_skeleto0.61152649
143MP0001800_abnormal_humoral_immune0.61087805
144MP0004043_abnormal_pH_regulation0.60716548
145MP0009931_abnormal_skin_appearance0.59996898
146MP0003329_amyloid_beta_deposits0.59781610
147MP0003699_abnormal_female_reproductive0.59465228
148MP0001177_atelectasis0.58776512
149MP0005508_abnormal_skeleton_morphology0.58667729
150MP0003755_abnormal_palate_morphology0.58322177
151MP0005410_abnormal_fertilization0.58092163
152MP0000566_synostosis0.57686276
153MP0000681_abnormal_thyroid_gland0.55540720
154MP0005334_abnormal_fat_pad0.53384085
155MP0005085_abnormal_gallbladder_physiolo0.51449099
156MP0006138_congestive_heart_failure0.51425601
157MP0003950_abnormal_plasma_membrane0.51365420
158MP0003635_abnormal_synaptic_transmissio0.51112586
159MP0010030_abnormal_orbit_morphology0.50903429
160MP0000465_gastrointestinal_hemorrhage0.49383993
161MP0004858_abnormal_nervous_system0.49026820
162MP0001346_abnormal_lacrimal_gland0.48134342
163MP0000013_abnormal_adipose_tissue0.47943740
164MP0002177_abnormal_outer_ear0.47707309
165MP0001943_abnormal_respiration0.46240662
166MP0002060_abnormal_skin_morphology0.45501031
167MP0010678_abnormal_skin_adnexa0.44942902
168MP0005535_abnormal_body_temperature0.43966387
169MP0008775_abnormal_heart_ventricle0.42712891
170MP0002078_abnormal_glucose_homeostasis0.41800816

Predicted human phenotypes

RankGene SetZ-score
1Hypomagnesemia (HP:0002917)8.82322084
2Abnormality of magnesium homeostasis (HP:0004921)7.42995138
3Abnormal drinking behavior (HP:0030082)7.37413395
4Polydipsia (HP:0001959)7.37413395
5Distal arthrogryposis (HP:0005684)6.59386290
6Muscle fiber inclusion bodies (HP:0100299)6.54500775
7Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)6.53762666
8Exercise-induced myalgia (HP:0003738)6.36831672
9Nemaline bodies (HP:0003798)5.92599832
10Round ear (HP:0100830)5.44738516
11Muscle hypertrophy of the lower extremities (HP:0008968)5.18961809
12Ulnar deviation of the wrist (HP:0003049)5.12837796
13Calf muscle hypertrophy (HP:0008981)5.07191508
14Absent phalangeal crease (HP:0006109)4.88266879
15Type 1 muscle fiber predominance (HP:0003803)4.88032650
16Increased connective tissue (HP:0009025)4.81960397
17Exercise-induced muscle cramps (HP:0003710)4.80961363
18Polyuria (HP:0000103)4.80691622
19Hyperuricemia (HP:0002149)4.73391215
20Increased purine levels (HP:0004368)4.73391215
21Difficulty running (HP:0009046)4.66882348
22Myopathic facies (HP:0002058)4.66642899
23Calcaneovalgus deformity (HP:0001848)4.49094557
24Abnormality of the vertebral endplates (HP:0005106)4.45690045
25Flattened epiphyses (HP:0003071)4.38999354
26Renal tubular acidosis (HP:0001947)4.36748567
27Myoglobinuria (HP:0002913)4.30420335
28Rimmed vacuoles (HP:0003805)4.28409242
29Deformed tarsal bones (HP:0008119)4.19315193
30Enlarged epiphyses (HP:0010580)4.14132778
31Spinal muscular atrophy (HP:0007269)4.12958564
32Muscle fiber splitting (HP:0003555)4.11390947
33Abnormal finger flexion creases (HP:0006143)4.05147164
34Abnormality of glycolipid metabolism (HP:0010969)4.04530852
35Abnormality of liposaccharide metabolism (HP:0010968)4.04530852
36Abnormality of glycosphingolipid metabolism (HP:0004343)4.04530852
37Autoimmune thrombocytopenia (HP:0001973)4.00918659
38Hyporeflexia of lower limbs (HP:0002600)3.97393526
39Abnormal urine output (HP:0012590)3.96070757
40Increased IgE level (HP:0003212)3.94028158
41Stomach cancer (HP:0012126)3.90653766
42Polygenic inheritance (HP:0010982)3.89361805
43Stridor (HP:0010307)3.87654277
44Increased variability in muscle fiber diameter (HP:0003557)3.87627440
45Unilateral renal agenesis (HP:0000122)3.86446625
46Hypothermia (HP:0002045)3.84872940
47Thyroid-stimulating hormone excess (HP:0002925)3.84439754
48Abnormality of the anterior horn cell (HP:0006802)3.81351017
49Degeneration of anterior horn cells (HP:0002398)3.81351017
50Split foot (HP:0001839)3.66723130
51Abnormality of skeletal muscle fiber size (HP:0012084)3.62619243
52Congenital malformation of the right heart (HP:0011723)3.55621145
53Double outlet right ventricle (HP:0001719)3.55621145
54Diaphragmatic weakness (HP:0009113)3.45711353
55Hypercalciuria (HP:0002150)3.40895878
56Mesangial abnormality (HP:0001966)3.37956521
57Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.37351893
58Abnormality of renal excretion (HP:0011036)3.30436430
59Abnormality of the calf musculature (HP:0001430)3.29392875
60Autoimmune hemolytic anemia (HP:0001890)3.26121627
61Recurrent bacterial skin infections (HP:0005406)3.24083873
62Distal lower limb muscle weakness (HP:0009053)3.24049546
63Right ventricular cardiomyopathy (HP:0011663)3.16203814
64Focal segmental glomerulosclerosis (HP:0000097)3.15609428
65Abnormality of the parathyroid morphology (HP:0011766)3.15199763
66EMG: myopathic abnormalities (HP:0003458)3.11348527
67Myotonia (HP:0002486)3.08749023
68Abnormality of the aortic arch (HP:0012303)3.07815224
69Distal lower limb amyotrophy (HP:0008944)3.02960300
70Congenital ichthyosiform erythroderma (HP:0007431)3.00243165
71Cholelithiasis (HP:0001081)3.00147525
72Abnormality of purine metabolism (HP:0004352)2.97594035
73Muscle stiffness (HP:0003552)2.96928323
74Paralysis (HP:0003470)2.93995928
75Hyperthyroidism (HP:0000836)2.93565026
76Hypoplasia of the capital femoral epiphysis (HP:0003090)2.84768304
77Weak cry (HP:0001612)2.84301749
78Areflexia of lower limbs (HP:0002522)2.82106927
79Dysautonomia (HP:0002459)2.80195031
80Neck muscle weakness (HP:0000467)2.75632714
81Renal tubular dysfunction (HP:0000124)2.75608104
82Abnormal gallbladder morphology (HP:0012437)2.73766874
83Abnormality of the epiphysis of the femoral head (HP:0010574)2.72521485
84Synostosis involving the elbow (HP:0003938)2.72026095
85Humeroradial synostosis (HP:0003041)2.72026095
86Cupped ribs (HP:0000887)2.71985966
87Nephrocalcinosis (HP:0000121)2.66488956
88Difficulty climbing stairs (HP:0003551)2.66006675
89B lymphocytopenia (HP:0010976)2.64081623
90Abnormality of B cell number (HP:0010975)2.64081623
91Abnormality of the calcaneus (HP:0008364)2.63267633
92Rhabdomyolysis (HP:0003201)2.61744265
93Coxa vara (HP:0002812)2.61493617
94Large for gestational age (HP:0001520)2.61112334
95Barrel-shaped chest (HP:0001552)2.61022155
96Bicornuate uterus (HP:0000813)2.54075387
97Facial diplegia (HP:0001349)2.52299384
98Abnormality of femoral epiphyses (HP:0006499)2.49721728
99Abnormality involving the epiphyses of the lower limbs (HP:0006500)2.49721728
100Hypoplastic ischia (HP:0003175)2.48307279
101Glomerulosclerosis (HP:0000096)2.45060225
102Abnormality of the femoral head (HP:0003368)2.42774764
103Frequent falls (HP:0002359)2.40813331
104Absent epiphyses (HP:0010577)2.37982306
105Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.37982306
106Lower limb amyotrophy (HP:0007210)2.36027196
107Hypoplastic iliac wings (HP:0002866)2.34919907
108Hypoplastic left heart (HP:0004383)2.31875095
109Tetany (HP:0001281)2.27797561
110Recurrent abscess formation (HP:0002722)2.25007187
111Short palpebral fissure (HP:0012745)2.20816346
112Hyperkalemia (HP:0002153)2.20690026
113Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.19245028
114Abnormality of the ischium (HP:0003174)2.18022813
115Aplasia/Hypoplasia of the sacrum (HP:0008517)2.16900541
116Nasal speech (HP:0001611)2.16278783
117Abnormal autonomic nervous system physiology (HP:0012332)2.15878955
118Amblyopia (HP:0000646)2.15810154
119Tachypnea (HP:0002789)2.15440936
120Hypoplasia of the radius (HP:0002984)2.15408628
121Conical tooth (HP:0000698)2.15144611
122Shoulder girdle muscle weakness (HP:0003547)2.12233244
123Septate vagina (HP:0001153)2.08679990
124Ileus (HP:0002595)2.07184847
125Akinesia (HP:0002304)2.05964323
126Ulnar deviation of finger (HP:0009465)2.05207783
127Nonimmune hydrops fetalis (HP:0001790)2.05012933
128Hydroureter (HP:0000072)2.03827769
129Scapular winging (HP:0003691)2.03693619
130Eczematoid dermatitis (HP:0000976)2.03656889
131Exotropia (HP:0000577)2.03052940
132Multifactorial inheritance (HP:0001426)2.02809605
133Hypokinesia (HP:0002375)2.02289796
134Aplasia involving bones of the extremities (HP:0009825)2.00870090
135Aplasia involving bones of the upper limbs (HP:0009823)2.00870090
136Aplasia of the phalanges of the hand (HP:0009802)2.00870090
137Oral leukoplakia (HP:0002745)11.4680063
138Abnormality of nucleobase metabolism (HP:0010932)1.99173721
139Delusions (HP:0000746)1.99129632
140Thyroiditis (HP:0100646)1.98644038
141Pelvic girdle muscle weakness (HP:0003749)1.97878085
142Oligodactyly (hands) (HP:0001180)1.97144302
143Wrist flexion contracture (HP:0001239)1.96731446
144Seborrheic dermatitis (HP:0001051)1.96542380
145Adactyly (HP:0009776)1.96510243
146Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.96263381
147Opisthotonus (HP:0002179)1.96146431
148Albinism (HP:0001022)1.92839072
149Hematuria (HP:0000790)1.92704293
150Muscular dystrophy (HP:0003560)1.92615099
151Methylmalonic aciduria (HP:0012120)1.88488573
152Abnormality of the musculature of the pelvis (HP:0001469)1.88386165
153Abnormality of the hip-girdle musculature (HP:0001445)1.88386165
154Mitral stenosis (HP:0001718)1.87985434
155Osteoarthritis (HP:0002758)1.87850218
156Foot dorsiflexor weakness (HP:0009027)1.87843068
157Hypertensive crisis (HP:0100735)1.86907331
158Aplasia/Hypoplasia of the fibula (HP:0006492)1.86180457
159Severe combined immunodeficiency (HP:0004430)1.85494845
160Ectropion (HP:0000656)1.82383164
161Abdominal distention (HP:0003270)1.80490203
162Corneal erosion (HP:0200020)1.78847494
163Annular pancreas (HP:0001734)1.78279534
164Achilles tendon contracture (HP:0001771)1.76712245
165Poor speech (HP:0002465)1.76380528
166Irregular vertebral endplates (HP:0003301)1.75078149
167Neonatal hypoglycemia (HP:0001998)1.73972936
168Aplasia/hypoplasia of the femur (HP:0005613)1.73875784
169Abnormality of the gallbladder (HP:0005264)1.73735501
170Absence seizures (HP:0002121)1.73306040
171Joint swelling (HP:0001386)1.73194730
172Rectal fistula (HP:0100590)1.72473157
173Rectovaginal fistula (HP:0000143)1.72473157
174Woolly hair (HP:0002224)1.72233459
175Mesomelia (HP:0003027)1.72125374
176EMG: neuropathic changes (HP:0003445)1.71986033
177Anal stenosis (HP:0002025)1.71798127
178Hypoplastic pelvis (HP:0008839)1.71244424
179Supranuclear gaze palsy (HP:0000605)1.70780392
180Abnormality of the shoulder girdle musculature (HP:0001435)1.70480486
181Irregular epiphyses (HP:0010582)1.70448891
182Abnormality of the foot musculature (HP:0001436)1.70124894
183Abnormality of the Achilles tendon (HP:0005109)1.69145641
184Long clavicles (HP:0000890)1.68278736
185Spinal rigidity (HP:0003306)1.67672190
186Chronic diarrhea (HP:0002028)1.65677953
187Absent hand (HP:0004050)1.65651048
188Hypoplastic heart (HP:0001961)1.65346651
189Gout (HP:0001997)1.64633589
190Metatarsus adductus (HP:0001840)1.64466270
191Proximal amyotrophy (HP:0007126)1.62531710
192Palmoplantar keratoderma (HP:0000982)1.62349067
193Intestinal fistula (HP:0100819)1.61501869
194Fibular aplasia (HP:0002990)1.61212960
195Stage 5 chronic kidney disease (HP:0003774)1.60846855
196Truncus arteriosus (HP:0001660)1.59810829

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PIK3CG4.91373786
2MAPK154.82954851
3TAOK34.72221421
4OBSCN3.85746353
5TLK13.31145150
6PHKG23.30092616
7PHKG13.30092616
8CSF1R2.79762273
9NEK12.65165167
10PDK32.33260785
11PDK42.33260785
12TRIB32.29497886
13MAP2K32.11707559
14MAP3K142.06193137
15IKBKE2.05115274
16TTN10.7816907
17BCKDK1.91242960
18PINK11.83872099
19AKT31.83328098
20TYK21.80339981
21NME11.78297050
22NEK21.75100036
23DMPK1.62870809
24PDK21.54744289
25MKNK21.42469097
26EPHA31.39242065
27MAP2K41.31683872
28MAP3K71.31346442
29JAK11.29557593
30TBK11.25144277
31EPHA21.23619594
32CAMK11.17204188
33TAOK11.16451206
34CDK71.12643114
35ADRBK21.11770281
36MAP3K31.10617427
37SIK11.10507045
38ILK1.08346741
39MAPK121.07954029
40MAP2K21.05263980
41MAPKAPK31.04018412
42PRKCI1.02216265
43PKN20.99440631
44FER0.95349808
45MARK30.90707122
46FGFR20.90536702
47PAK60.88867197
48EIF2AK20.88782710
49MAP3K90.88011788
50KSR20.87490889
51CSNK1A10.87449305
52UHMK10.86703625
53SIK20.82486285
54STK40.82467332
55CAMK2A0.80453573
56OXSR10.78809102
57PRKD20.78380039
58SYK0.77886218
59NTRK20.75840872
60IRAK40.75278739
61MARK10.75274785
62PIK3CA0.73875215
63IGF1R0.70898010
64MAP2K60.69521128
65RIPK10.68507784
66ACVR1B0.66250753
67WNK40.65949818
68EPHB10.65852578
69PIM10.64292027
70CLK10.62884312
71PRKD10.62343220
72MAP4K20.59459023
73BTK0.58666786
74LIMK10.58055655
75KSR10.56562295
76ERBB20.53565345
77NTRK30.51969416
78JAK20.51197692
79PTK60.51149206
80ERBB30.50820067
81HCK0.50225846
82PKN10.49504753
83CAMKK20.48954028
84DYRK1B0.48772714
85LRRK20.48417940
86MKNK10.48302184
87IKBKB0.46786985
88KIT0.45680640
89MAPK110.44969037
90HIPK20.44880630
91MAP2K10.44775594
92MAP3K20.44773486
93BMX0.44443949
94RPS6KB20.44142144
95CAMK2G0.43918946
96LATS20.43591623
97CHUK0.42954858
98ERN10.42383795
99MAP3K110.42236983
100RPS6KA60.40471679
101MAP3K60.39114688
102FGR0.38345401
103PRKCQ0.38344610
104VRK10.37532038
105SGK10.37221105
106WNK10.37014253
107STK390.36857482
108MAPK40.36707474
109NME20.36682761
110MAP3K10.34212443
111PTK2B0.32961003
112PAK30.32585927
113MST1R0.32519957
114DDR20.31829289
115INSR0.31552286
116ROCK20.31347143
117RPS6KC10.31255916
118RPS6KL10.31255916
119FES0.31194541
120BRSK20.31191440
121TAOK20.31060217
122CDK11A0.30929310
123CSNK1D0.30739163
124PRKCH0.30488163
125TYRO30.30401625
126RET0.29941498
127EPHA40.29453107
128PRKCG0.29358076
129PDPK10.29121029
130PRKACA0.28930628
131PRKG10.28799465
132AKT20.28093139
133PAK20.27995568
134CDK50.27917944
135ROCK10.26987269
136TNIK0.26406040
137PTK20.25884419
138GRK10.25748209
139LCK0.25571977
140EGFR0.25508775
141RPS6KA30.25326490
142GSK3A0.25168965
143CAMK40.24963664
144LATS10.24734042
145LYN0.24315219
146PRKAA20.24257079
147PDK10.23733335
148MTOR0.23698905
149FGFR40.23481241
150CAMKK10.23263992
151MET0.23231630
152MAPK30.23198646
153GRK60.23040867
154INSRR0.22545749
155MAPKAPK20.22377294
156MAPK130.21642828
157PRKACG0.21153495
158MARK20.21146465
159TIE10.20868865
160PDGFRA0.20565747
161CASK0.20461453
162NTRK10.20430501
163CAMK2B0.20094755
164PRKACB0.19604384
165CDK190.19323038
166MAPK90.17183433
167DYRK20.16890716
168SIK30.16446549
169FGFR10.15943251

Predicted pathways (KEGG)

RankGene SetZ-score
1Fat digestion and absorption_Homo sapiens_hsa049754.09512593
2Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006034.05598277
3Phenylalanine metabolism_Homo sapiens_hsa003604.01857202
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.76991937
5African trypanosomiasis_Homo sapiens_hsa051433.62045754
6Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.32688519
7Other glycan degradation_Homo sapiens_hsa005113.13192610
82-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.07169016
9* Salivary secretion_Homo sapiens_hsa049702.91554727
10Glycerolipid metabolism_Homo sapiens_hsa005612.57667644
11Hepatitis C_Homo sapiens_hsa051602.40075047
12Histidine metabolism_Homo sapiens_hsa003402.25790440
13beta-Alanine metabolism_Homo sapiens_hsa004102.20664275
14Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.13087826
15Tyrosine metabolism_Homo sapiens_hsa003502.13053818
16Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.08919469
17Cocaine addiction_Homo sapiens_hsa050302.07668144
18Leukocyte transendothelial migration_Homo sapiens_hsa046701.91476431
19Fatty acid degradation_Homo sapiens_hsa000711.88277907
20Propanoate metabolism_Homo sapiens_hsa006401.88210907
21Cardiac muscle contraction_Homo sapiens_hsa042601.83473587
22Ether lipid metabolism_Homo sapiens_hsa005651.78378336
23Alzheimers disease_Homo sapiens_hsa050101.76506848
24Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.75837273
25Cyanoamino acid metabolism_Homo sapiens_hsa004601.71714833
26Carbon metabolism_Homo sapiens_hsa012001.68258316
27RNA polymerase_Homo sapiens_hsa030201.65334092
28Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.63381215
29Parkinsons disease_Homo sapiens_hsa050121.60327114
30Arginine biosynthesis_Homo sapiens_hsa002201.60256607
31Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.55243677
32Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.52365724
33Intestinal immune network for IgA production_Homo sapiens_hsa046721.47644073
34Oxidative phosphorylation_Homo sapiens_hsa001901.46467768
35Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.45987106
36Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.44097382
37Olfactory transduction_Homo sapiens_hsa047401.38101439
38Maturity onset diabetes of the young_Homo sapiens_hsa049501.37355085
39Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.37214767
40Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.33785979
41One carbon pool by folate_Homo sapiens_hsa006701.31804245
42Glucagon signaling pathway_Homo sapiens_hsa049221.31604701
43Phototransduction_Homo sapiens_hsa047441.28954571
44Chemical carcinogenesis_Homo sapiens_hsa052041.27285448
45Dilated cardiomyopathy_Homo sapiens_hsa054141.27252446
46NF-kappa B signaling pathway_Homo sapiens_hsa040641.24124562
47Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.23135621
48Small cell lung cancer_Homo sapiens_hsa052221.22223962
49Thyroid hormone synthesis_Homo sapiens_hsa049181.20994550
50Fatty acid metabolism_Homo sapiens_hsa012121.20230311
51Homologous recombination_Homo sapiens_hsa034401.17346593
52Nitrogen metabolism_Homo sapiens_hsa009101.16952092
53Pyruvate metabolism_Homo sapiens_hsa006201.16669933
54Starch and sucrose metabolism_Homo sapiens_hsa005001.16489810
55Butanoate metabolism_Homo sapiens_hsa006501.16358459
56Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.15722389
57Biosynthesis of amino acids_Homo sapiens_hsa012301.14141100
58Gastric acid secretion_Homo sapiens_hsa049711.12545882
59Renin secretion_Homo sapiens_hsa049241.12287256
60Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.08990767
61Ovarian steroidogenesis_Homo sapiens_hsa049131.07269985
62Long-term potentiation_Homo sapiens_hsa047201.03877354
63Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.03033637
64TNF signaling pathway_Homo sapiens_hsa046681.02551061
65Oxytocin signaling pathway_Homo sapiens_hsa049211.01009251
66GnRH signaling pathway_Homo sapiens_hsa049121.00811555
67Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.00478810
68Glycosaminoglycan degradation_Homo sapiens_hsa005310.99458958
69Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.97556211
70Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.96350483
71Jak-STAT signaling pathway_Homo sapiens_hsa046300.96285810
72Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.96230694
73Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.95580026
74Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.94037032
75Circadian entrainment_Homo sapiens_hsa047130.93799284
76Arginine and proline metabolism_Homo sapiens_hsa003300.92774880
77Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.90681808
78Insulin signaling pathway_Homo sapiens_hsa049100.87859423
79Calcium signaling pathway_Homo sapiens_hsa040200.84161334
80Morphine addiction_Homo sapiens_hsa050320.84079621
81Aldosterone synthesis and secretion_Homo sapiens_hsa049250.83015989
82Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.82070999
83Hepatitis B_Homo sapiens_hsa051610.82045517
84Amphetamine addiction_Homo sapiens_hsa050310.81361447
85Caffeine metabolism_Homo sapiens_hsa002320.78390470
86Fatty acid elongation_Homo sapiens_hsa000620.77697263
87Vascular smooth muscle contraction_Homo sapiens_hsa042700.77624668
88Tryptophan metabolism_Homo sapiens_hsa003800.77220238
89Hedgehog signaling pathway_Homo sapiens_hsa043400.76986192
90Osteoclast differentiation_Homo sapiens_hsa043800.75973064
91Basal transcription factors_Homo sapiens_hsa030220.73864137
92Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.71784080
93Glycerophospholipid metabolism_Homo sapiens_hsa005640.70682530
94Primary immunodeficiency_Homo sapiens_hsa053400.70408529
95Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.70382857
96Insulin resistance_Homo sapiens_hsa049310.70147014
97Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.70066456
98Toll-like receptor signaling pathway_Homo sapiens_hsa046200.67607807
99Non-small cell lung cancer_Homo sapiens_hsa052230.67507918
100Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.66069890
101Sulfur metabolism_Homo sapiens_hsa009200.65791346
102Vitamin B6 metabolism_Homo sapiens_hsa007500.65660339
103cGMP-PKG signaling pathway_Homo sapiens_hsa040220.64843978
104Synaptic vesicle cycle_Homo sapiens_hsa047210.64492785
105Huntingtons disease_Homo sapiens_hsa050160.63841702
106Melanogenesis_Homo sapiens_hsa049160.62867118
107Primary bile acid biosynthesis_Homo sapiens_hsa001200.62038881
108PPAR signaling pathway_Homo sapiens_hsa033200.61631926
109Serotonergic synapse_Homo sapiens_hsa047260.61257345
110Protein digestion and absorption_Homo sapiens_hsa049740.61053151
111Glioma_Homo sapiens_hsa052140.59882180
112Arachidonic acid metabolism_Homo sapiens_hsa005900.58669791
113ECM-receptor interaction_Homo sapiens_hsa045120.57012651
114Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.56843849
115Long-term depression_Homo sapiens_hsa047300.56273015
116Dopaminergic synapse_Homo sapiens_hsa047280.55744647
117Steroid hormone biosynthesis_Homo sapiens_hsa001400.55186969
118Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.54152181
119HIF-1 signaling pathway_Homo sapiens_hsa040660.53920736
120VEGF signaling pathway_Homo sapiens_hsa043700.52270720
121AMPK signaling pathway_Homo sapiens_hsa041520.51219357
122Taste transduction_Homo sapiens_hsa047420.50022535
123Measles_Homo sapiens_hsa051620.48345624
124FoxO signaling pathway_Homo sapiens_hsa040680.47563047
125Toxoplasmosis_Homo sapiens_hsa051450.46036855
126RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.46027184
127Pertussis_Homo sapiens_hsa051330.44956315
128Estrogen signaling pathway_Homo sapiens_hsa049150.44200479
129Adipocytokine signaling pathway_Homo sapiens_hsa049200.44174515
130Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.41617990
131Tight junction_Homo sapiens_hsa045300.39768199
132Choline metabolism in cancer_Homo sapiens_hsa052310.39290875
133Ras signaling pathway_Homo sapiens_hsa040140.38758957
134Central carbon metabolism in cancer_Homo sapiens_hsa052300.38303111
135Nicotine addiction_Homo sapiens_hsa050330.37613993
136Purine metabolism_Homo sapiens_hsa002300.37302698
137B cell receptor signaling pathway_Homo sapiens_hsa046620.37042680
138Insulin secretion_Homo sapiens_hsa049110.36930711
139Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.35159579
140Bile secretion_Homo sapiens_hsa049760.35158005
141Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.34901917
142alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.33644685
143Glutamatergic synapse_Homo sapiens_hsa047240.33556776
144Sphingolipid metabolism_Homo sapiens_hsa006000.33542187
145Vitamin digestion and absorption_Homo sapiens_hsa049770.32946331
146T cell receptor signaling pathway_Homo sapiens_hsa046600.32776418
147Fructose and mannose metabolism_Homo sapiens_hsa000510.32078770
148Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.29672449
149Lysosome_Homo sapiens_hsa041420.29116406
150GABAergic synapse_Homo sapiens_hsa047270.28784021
151Linoleic acid metabolism_Homo sapiens_hsa005910.27375191
152Lysine degradation_Homo sapiens_hsa003100.27094851
153Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.26995416
154Galactose metabolism_Homo sapiens_hsa000520.26066310
155Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.25905663
156Sulfur relay system_Homo sapiens_hsa041220.25725745
157Type II diabetes mellitus_Homo sapiens_hsa049300.24106912
158Cholinergic synapse_Homo sapiens_hsa047250.24081887
159Axon guidance_Homo sapiens_hsa043600.22976089
160Prostate cancer_Homo sapiens_hsa052150.22742629
161Peroxisome_Homo sapiens_hsa041460.21559080
162Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.21172519
163Viral myocarditis_Homo sapiens_hsa054160.20600966
164Neurotrophin signaling pathway_Homo sapiens_hsa047220.20206130
165Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.19619455
166Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.19342223
167Focal adhesion_Homo sapiens_hsa045100.19081072
168Metabolic pathways_Homo sapiens_hsa011000.18047008
169Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.17418270
170Fatty acid biosynthesis_Homo sapiens_hsa000610.15940134
171cAMP signaling pathway_Homo sapiens_hsa040240.15903196
172MAPK signaling pathway_Homo sapiens_hsa040100.15643924

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