MBTPS2

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 intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1detection of molecule of bacterial origin (GO:0032490)7.82761629
2negative regulation of macroautophagy (GO:0016242)7.43926944
3auditory receptor cell stereocilium organization (GO:0060088)6.58592240
4positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)6.44478816
5post-embryonic morphogenesis (GO:0009886)6.37371623
6energy homeostasis (GO:0097009)5.88091562
7sulfate transmembrane transport (GO:1902358)5.66316080
8cellular anion homeostasis (GO:0030002)5.42487859
9negative regulation of meiosis (GO:0045835)5.40975585
10sulfate transport (GO:0008272)5.05932658
11lateral ventricle development (GO:0021670)5.04225195
12detection of external biotic stimulus (GO:0098581)5.02017444
13trivalent inorganic anion homeostasis (GO:0072506)4.81600126
14phosphate ion homeostasis (GO:0055062)4.81600126
15inner ear receptor stereocilium organization (GO:0060122)4.64768642
16positive regulation of neurological system process (GO:0031646)4.35500012
17detection of biotic stimulus (GO:0009595)4.28990472
18regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.92294593
19synaptic vesicle docking involved in exocytosis (GO:0016081)3.73526749
20Golgi transport vesicle coating (GO:0048200)3.70860803
21COPI coating of Golgi vesicle (GO:0048205)3.70860803
22prostate gland growth (GO:0060736)3.69668899
23regulation of interleukin-6 biosynthetic process (GO:0045408)3.65523259
24cholesterol biosynthetic process (GO:0006695)3.59277128
25regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00433.53158582
26neuron remodeling (GO:0016322)3.51386879
27negative regulation of response to nutrient levels (GO:0032108)3.44349873
28negative regulation of response to extracellular stimulus (GO:0032105)3.44349873
29positive regulation of neurotransmitter secretion (GO:0001956)3.43561516
30bicarbonate transport (GO:0015701)3.42649932
31glycoside metabolic process (GO:0016137)3.40098561
32estrogen biosynthetic process (GO:0006703)3.35127976
33sulfur compound transport (GO:0072348)3.33964433
34sterol biosynthetic process (GO:0016126)3.28114363
35inositol metabolic process (GO:0006020)3.21192953
36response to pheromone (GO:0019236)3.18938702
37negative regulation of meiotic cell cycle (GO:0051447)3.17553519
38positive regulation of uterine smooth muscle contraction (GO:0070474)3.09034002
39histone H3-K9 modification (GO:0061647)3.08364985
40positive regulation of protein sumoylation (GO:0033235)3.07856943
41cerebral cortex radially oriented cell migration (GO:0021799)3.06178200
42positive regulation of hormone biosynthetic process (GO:0046886)3.03585691
43daunorubicin metabolic process (GO:0044597)21.0942065
44polyketide metabolic process (GO:0030638)21.0942065
45doxorubicin metabolic process (GO:0044598)21.0942065
46L-serine transport (GO:0015825)2.94659965
47mitotic sister chromatid cohesion (GO:0007064)2.89705129
48peptidyl-lysine dimethylation (GO:0018027)2.87202091
49positive regulation of CREB transcription factor activity (GO:0032793)2.86355110
50maintenance of gastrointestinal epithelium (GO:0030277)2.83104637
51exogenous drug catabolic process (GO:0042738)2.82947500
52negative regulation of glial cell proliferation (GO:0060253)2.81103319
53DNA catabolic process, exonucleolytic (GO:0000738)2.79259703
54negative regulation of mast cell activation (GO:0033004)2.78608774
55regulation of activation of Janus kinase activity (GO:0010533)2.72091442
56somatic stem cell division (GO:0048103)2.70363978
57regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.68751388
58nuclear pore complex assembly (GO:0051292)2.65005120
59regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.64631513
60maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.59272847
61cell adhesion mediated by integrin (GO:0033627)2.57862394
62isoprenoid biosynthetic process (GO:0008299)2.57851683
63COPII vesicle coating (GO:0048208)2.57395683
64opioid receptor signaling pathway (GO:0038003)2.56518863
65retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.56126348
66positive regulation of mitochondrial fission (GO:0090141)2.55285033
67nuclear pore organization (GO:0006999)2.50371628
68forebrain neuron differentiation (GO:0021879)2.45785940
694-hydroxyproline metabolic process (GO:0019471)2.44772995
70protein K6-linked ubiquitination (GO:0085020)2.43935484
71regulation of meiosis (GO:0040020)2.43492395
72positive regulation of vascular permeability (GO:0043117)2.43079321
73negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.41866354
74macrophage activation (GO:0042116)2.41495118
75response to follicle-stimulating hormone (GO:0032354)2.40999484
76regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.39199236
77regulation of mitotic spindle checkpoint (GO:1903504)2.39199236
78cell proliferation involved in metanephros development (GO:0072203)2.38083073
79positive regulation of neurotransmitter transport (GO:0051590)2.37801347
80polarized epithelial cell differentiation (GO:0030859)2.37662172
81developmental pigmentation (GO:0048066)2.36584135
82type B pancreatic cell proliferation (GO:0044342)2.36490466
83vocalization behavior (GO:0071625)2.36414418
84L-serine metabolic process (GO:0006563)2.35466541
85retina vasculature morphogenesis in camera-type eye (GO:0061299)2.34785458
86regulation of translational fidelity (GO:0006450)2.33648219
87modulation by virus of host process (GO:0019054)2.32274948
88mesenchymal cell differentiation involved in renal system development (GO:2001012)2.32131380
89mesenchymal cell differentiation involved in kidney development (GO:0072161)2.32131380
90pigment granule localization (GO:0051875)2.31735011
91tachykinin receptor signaling pathway (GO:0007217)2.31314705
92positive regulation of protein homooligomerization (GO:0032464)2.28635668
93ganglion development (GO:0061548)2.28487265
94paraxial mesoderm development (GO:0048339)2.28017609
95mRNA transcription from RNA polymerase II promoter (GO:0042789)2.27788023
96negative regulation of autophagy (GO:0010507)2.25790357
97negative regulation of calcium ion transport into cytosol (GO:0010523)2.25371083
98protein retention in ER lumen (GO:0006621)2.24873509
99regulation of uterine smooth muscle contraction (GO:0070472)2.24235660
100lipid particle organization (GO:0034389)2.22997814
101regulation of pigment cell differentiation (GO:0050932)2.21884765
102endoplasmic reticulum organization (GO:0007029)2.19872615
103venous blood vessel morphogenesis (GO:0048845)2.19503563
104presynaptic membrane assembly (GO:0097105)2.19435725
105vesicle coating (GO:0006901)2.19379008
106vitamin catabolic process (GO:0009111)2.18178225
107fat-soluble vitamin catabolic process (GO:0042363)2.18178225
108G-protein coupled receptor internalization (GO:0002031)2.18116871
109eye photoreceptor cell development (GO:0042462)2.17661567
110mesonephros development (GO:0001823)2.17568407
111protein localization to microtubule (GO:0035372)2.16487137
112negative regulation of synaptic transmission, GABAergic (GO:0032229)2.16306914
113lens fiber cell development (GO:0070307)2.15567846
114cullin deneddylation (GO:0010388)2.15223450
115pyrimidine nucleobase catabolic process (GO:0006208)2.15022491
116positive regulation vascular endothelial growth factor production (GO:0010575)2.14538030
117glutamine metabolic process (GO:0006541)2.13960703
118peptidyl-histidine modification (GO:0018202)2.13686202
119embryonic camera-type eye morphogenesis (GO:0048596)2.13182798
120azole transport (GO:0045117)2.13155589
121sister chromatid segregation (GO:0000819)2.11975438
122intraciliary transport (GO:0042073)2.11260775
123aspartate family amino acid biosynthetic process (GO:0009067)2.09941367
124serine transport (GO:0032329)2.09812579
125tRNA methylation (GO:0030488)2.09809134
126diaphragm development (GO:0060539)2.09742072
127head development (GO:0060322)2.08777598
128replicative senescence (GO:0090399)2.08247711
129pigment granule transport (GO:0051904)2.08231095
130pore complex assembly (GO:0046931)2.07602299
131positive regulation of developmental pigmentation (GO:0048087)2.07302028
132positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.07242557
133protein hydroxylation (GO:0018126)2.06925096
134regulation of non-canonical Wnt signaling pathway (GO:2000050)2.06114308
135ear development (GO:0043583)2.05100594
136lysosome organization (GO:0007040)2.04782890
137lytic vacuole organization (GO:0080171)2.04782890
138establishment of pigment granule localization (GO:0051905)2.03280415
139biotin metabolic process (GO:0006768)2.03252912
140ionotropic glutamate receptor signaling pathway (GO:0035235)2.02877773
141regulation of meiotic cell cycle (GO:0051445)2.01754427
142fatty acid elongation (GO:0030497)2.00631463
143magnesium ion transport (GO:0015693)2.00357491
144calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.00105248
145aminoglycoside antibiotic metabolic process (GO:0030647)13.6049527
146regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)1.99846813
147regulation of translational elongation (GO:0006448)1.99758458
148very-low-density lipoprotein particle assembly (GO:0034379)1.99061713
149protein deneddylation (GO:0000338)1.96575764
150response to lipoprotein particle (GO:0055094)1.96563890
151tRNA aminoacylation for protein translation (GO:0006418)1.95687628
152regulation of spindle organization (GO:0090224)1.95043589
153ER overload response (GO:0006983)1.94560603
154peptidyl-proline hydroxylation (GO:0019511)1.94501965
155regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)1.94311506
156skin morphogenesis (GO:0043589)1.94209673
157DNA integration (GO:0015074)1.94125452
158mitotic spindle organization (GO:0007052)1.93683533
159dicarboxylic acid catabolic process (GO:0043649)1.93387145
160protein localization to cilium (GO:0061512)1.93125015
161UDP-N-acetylglucosamine metabolic process (GO:0006047)1.92440103
162fibroblast migration (GO:0010761)1.92096836
163regulation of attachment of spindle microtubules to kinetochore (GO:0051988)1.91956109
164amino-acid betaine metabolic process (GO:0006577)1.91219912
165ER to Golgi vesicle-mediated transport (GO:0006888)1.90786545
166amino acid activation (GO:0043038)1.90487700
167tRNA aminoacylation (GO:0043039)1.90487700
168cellular response to follicle-stimulating hormone stimulus (GO:0071372)1.90158186
169coenzyme A metabolic process (GO:0015936)1.89852404
170neuron recognition (GO:0008038)1.88852171
171collagen fibril organization (GO:0030199)1.88050791
172sphingosine metabolic process (GO:0006670)1.86126177
173metaphase plate congression (GO:0051310)1.86041703
174mitotic sister chromatid segregation (GO:0000070)1.84652178
175serine family amino acid biosynthetic process (GO:0009070)1.84454073
176acrosome assembly (GO:0001675)1.83937812
177embryonic foregut morphogenesis (GO:0048617)1.83864452
178ribonucleoprotein complex disassembly (GO:0032988)1.82103909
179nucleotide transmembrane transport (GO:1901679)1.81262759
180sphingoid metabolic process (GO:0046519)1.80816174
181regulation of DNA endoreduplication (GO:0032875)1.80496381
182tricarboxylic acid cycle (GO:0006099)1.80467739
183L-methionine salvage (GO:0071267)1.79569838
184L-methionine biosynthetic process (GO:0071265)1.79569838
185amino acid salvage (GO:0043102)1.79569838
186axonal fasciculation (GO:0007413)1.79417110
187serine family amino acid metabolic process (GO:0009069)1.78710480
188carnitine metabolic process (GO:0009437)1.78243640
189neuron cell-cell adhesion (GO:0007158)1.77937615
190regulation of cofactor metabolic process (GO:0051193)1.77482203
191regulation of coenzyme metabolic process (GO:0051196)1.77482203
192peroxisome organization (GO:0007031)1.76177126
193ubiquinone metabolic process (GO:0006743)1.75961088
194vascular smooth muscle contraction (GO:0014829)1.75944117
195glutamate secretion (GO:0014047)1.75895604
196regulation of centriole replication (GO:0046599)1.75507434
197sex differentiation (GO:0007548)1.75298540
198L-methionine biosynthetic process from methylthioadenosine (GO:0019509)1.75093899
199nucleobase catabolic process (GO:0046113)1.74655463

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.78876867
2GBX2_23144817_ChIP-Seq_PC3_Human4.02912051
3SALL1_21062744_ChIP-ChIP_HESCs_Human2.80565449
4GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.64062643
5SMAD_19615063_ChIP-ChIP_OVARY_Human2.59937744
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.40772869
7PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.36519535
8JARID2_20064375_ChIP-Seq_MESCs_Mouse2.30914629
9NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.26884354
10PRDM5_23873026_ChIP-Seq_MEFs_Mouse2.21704844
11GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.16695746
12KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.13789601
13EED_16625203_ChIP-ChIP_MESCs_Mouse2.12183119
14TAF15_26573619_Chip-Seq_HEK293_Human2.05149631
15ZNF274_21170338_ChIP-Seq_K562_Hela2.04559692
16RNF2_18974828_ChIP-Seq_MESCs_Mouse2.01590422
17EZH2_18974828_ChIP-Seq_MESCs_Mouse2.01590422
18PCGF2_27294783_Chip-Seq_ESCs_Mouse1.97606490
19EZH2_27304074_Chip-Seq_ESCs_Mouse1.95781477
20TRIM28_21343339_ChIP-Seq_HEK293_Human1.93983926
21AR_21909140_ChIP-Seq_LNCAP_Human1.91547844
22RXR_22108803_ChIP-Seq_LS180_Human1.89600135
23BP1_19119308_ChIP-ChIP_Hs578T_Human1.89280429
24SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.87168124
25CREB1_15753290_ChIP-ChIP_HEK293T_Human1.83529179
26SUZ12_27294783_Chip-Seq_NPCs_Mouse1.82382518
27CBX2_27304074_Chip-Seq_ESCs_Mouse1.81078846
28DROSHA_22980978_ChIP-Seq_HELA_Human1.80895834
29RNF2_27304074_Chip-Seq_ESCs_Mouse1.79607860
30POU5F1_16153702_ChIP-ChIP_HESCs_Human1.79168961
31SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.76720869
32MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.76624632
33RBPJ_22232070_ChIP-Seq_NCS_Mouse1.76560424
34P300_19829295_ChIP-Seq_ESCs_Human1.76175051
35SMAD3_21741376_ChIP-Seq_EPCs_Human1.76012831
36BMI1_23680149_ChIP-Seq_NPCS_Mouse1.74347101
37SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.73648031
38NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.73231636
39ZFP57_27257070_Chip-Seq_ESCs_Mouse1.72777794
40* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.71703567
41NFE2_27457419_Chip-Seq_LIVER_Mouse1.71325699
42SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.70789341
43VDR_22108803_ChIP-Seq_LS180_Human1.65720792
44ELK1_19687146_ChIP-ChIP_HELA_Human1.65296151
45WT1_19549856_ChIP-ChIP_CCG9911_Human1.61179255
46E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.59395358
47FLI1_27457419_Chip-Seq_LIVER_Mouse1.59186872
48JARID2_20075857_ChIP-Seq_MESCs_Mouse1.57598972
49CTBP2_25329375_ChIP-Seq_LNCAP_Human1.57589934
50EWS_26573619_Chip-Seq_HEK293_Human1.57099125
51RNF2_27304074_Chip-Seq_NSC_Mouse1.55844678
52POU3F2_20337985_ChIP-ChIP_501MEL_Human1.54308210
53PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.53908840
54E2F1_18555785_Chip-Seq_ESCs_Mouse1.52671217
55PADI4_21655091_ChIP-ChIP_MCF-7_Human1.52563320
56CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.52476485
57RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.52249676
58TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.50333913
59SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.50185892
60PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.49544878
61ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.49168904
62EZH2_27294783_Chip-Seq_NPCs_Mouse1.46029059
63PIAS1_25552417_ChIP-Seq_VCAP_Human1.45199793
64TP63_19390658_ChIP-ChIP_HaCaT_Human1.43962588
65EZH2_27294783_Chip-Seq_ESCs_Mouse1.42720460
66SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.42635007
67NANOG_18555785_Chip-Seq_ESCs_Mouse1.42216017
68REST_21632747_ChIP-Seq_MESCs_Mouse1.41509537
69TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.40028684
70POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.40028684
71SUZ12_27294783_Chip-Seq_ESCs_Mouse1.39052452
72NR3C1_21868756_ChIP-Seq_MCF10A_Human1.38434801
73NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.38256520
74RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.37702595
75HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.36149682
76TP53_18474530_ChIP-ChIP_U2OS_Human1.33931152
77SOX17_20123909_ChIP-Seq_XEN_Mouse1.33463724
78SUZ12_18555785_Chip-Seq_ESCs_Mouse1.33323424
79CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.33196478
80PCGF2_27294783_Chip-Seq_NPCs_Mouse1.31914873
81STAT3_23295773_ChIP-Seq_U87_Human1.31787779
82EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.31522328
83MYCN_18555785_ChIP-Seq_MESCs_Mouse1.31316801
84FOXM1_23109430_ChIP-Seq_U2OS_Human1.31251752
85AR_25329375_ChIP-Seq_VCAP_Human1.30849307
86KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.30588709
87KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.30588709
88KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.30588709
89SMAD4_21799915_ChIP-Seq_A2780_Human1.30482338
90HIF1A_21447827_ChIP-Seq_MCF-7_Human1.30128475
91SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.29347752
92YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.27828082
93P53_22387025_ChIP-Seq_ESCs_Mouse1.27195060
94TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.26888807
95CMYC_18555785_Chip-Seq_ESCs_Mouse1.26886082
96SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.25774969
97CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.25282575
98OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23956087
99TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.23883637
100GABP_17652178_ChIP-ChIP_JURKAT_Human1.22643970
101RUNX2_22187159_ChIP-Seq_PCA_Human1.22411550
102FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.22264519
103OCT4_18555785_Chip-Seq_ESCs_Mouse1.22138875
104ESR1_15608294_ChIP-ChIP_MCF-7_Human1.22056524
105NMYC_18555785_Chip-Seq_ESCs_Mouse1.20354201
106AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.19701433
107FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.19521376
108* MYC_18555785_ChIP-Seq_MESCs_Mouse1.19489847
109* RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.18467004
110NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.18374346
111NRF2_20460467_ChIP-Seq_MEFs_Mouse1.18374346
112JUN_21703547_ChIP-Seq_K562_Human1.17868191
113FUS_26573619_Chip-Seq_HEK293_Human1.17646033
114TP53_16413492_ChIP-PET_HCT116_Human1.17376549
115NELFA_20434984_ChIP-Seq_ESCs_Mouse1.17352858
116P53_22127205_ChIP-Seq_FIBROBLAST_Human1.17134425
117* TCF4_23295773_ChIP-Seq_U87_Human1.16895345
118E2F7_22180533_ChIP-Seq_HELA_Human1.16100308
119* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.15126119
120GF1B_26923725_Chip-Seq_HPCs_Mouse1.15012249
121TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.14762715
122MTF2_20144788_ChIP-Seq_MESCs_Mouse1.13539492
123STAT3_18555785_Chip-Seq_ESCs_Mouse1.12782290
124CDX2_19796622_ChIP-Seq_MESCs_Mouse1.12447132
125CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.12186934
126FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.12168903
127RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11879842
128SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.11428592
129TBL1_22424771_ChIP-Seq_293T_Human1.11133098
130BRD4_25478319_ChIP-Seq_HGPS_Human1.10800947
131VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.10095073
132SOX9_26525672_Chip-Seq_HEART_Mouse1.10040904
133IGF1R_20145208_ChIP-Seq_DFB_Human1.09124949
134ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08855802
135RING1B_27294783_Chip-Seq_ESCs_Mouse1.08825549
136SOX2_18555785_Chip-Seq_ESCs_Mouse1.08285875
137ZNF263_19887448_ChIP-Seq_K562_Human1.07955338
138JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.07951954
139RING1B_27294783_Chip-Seq_NPCs_Mouse1.07707997
140YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07566043
141EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.07450200
142HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.07168116
143TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.06019525
144E2F4_17652178_ChIP-ChIP_JURKAT_Human1.05425088
145MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.05247054
146ER_23166858_ChIP-Seq_MCF-7_Human1.04622412
147RUNX1_27457419_Chip-Seq_LIVER_Mouse1.04579645
148SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.04507251
149P300_18555785_Chip-Seq_ESCs_Mouse1.04225425
150DCP1A_22483619_ChIP-Seq_HELA_Human1.03522672
151SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.00120817
152* GABP_19822575_ChIP-Seq_HepG2_Human0.99735711
153CTBP1_25329375_ChIP-Seq_LNCAP_Human0.97305432
154CJUN_26792858_Chip-Seq_BT549_Human0.97030266
155ETS1_20019798_ChIP-Seq_JURKAT_Human0.96198223
156* E2F1_18555785_ChIP-Seq_MESCs_Mouse0.96082357
157* SALL4_18804426_ChIP-ChIP_XEN_Mouse0.96054964
158TOP2B_26459242_ChIP-Seq_MCF-7_Human0.95561560
159CLOCK_20551151_ChIP-Seq_293T_Human0.95110927
160KLF5_20875108_ChIP-Seq_MESCs_Mouse0.94593816
161TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.93853044
162KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.93824325
163THAP11_20581084_ChIP-Seq_MESCs_Mouse0.92156306
164FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.90370394
165MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.90037296
166TBX3_20139965_ChIP-Seq_ESCs_Mouse0.89452979
167TBX3_20139965_ChIP-Seq_MESCs_Mouse0.89194856
168CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.89100709
169HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.87880339
170REST_19997604_ChIP-ChIP_NEURONS_Mouse0.87475807
171CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.87398686
172SRF_21415370_ChIP-Seq_HL-1_Mouse0.87211062
173EP300_21415370_ChIP-Seq_HL-1_Mouse0.85991145

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005377_hearing/vestibular/ear_phenot7.38574491
2MP0003878_abnormal_ear_physiology7.38574491
3MP0008004_abnormal_stomach_pH6.06340639
4MP0006292_abnormal_olfactory_placode3.70048472
5MP0005645_abnormal_hypothalamus_physiol3.62150536
6MP0000678_abnormal_parathyroid_gland3.59818406
7MP0003879_abnormal_hair_cell3.59013337
8MP0009697_abnormal_copulation3.18248284
9MP0005423_abnormal_somatic_nervous2.98940814
10MP0001485_abnormal_pinna_reflex2.83509204
11MP0008438_abnormal_cutaneous_collagen2.79789800
12MP0003941_abnormal_skin_development2.78675789
13MP0000566_synostosis2.51071009
14MP0005623_abnormal_meninges_morphology2.40777189
15MP0004742_abnormal_vestibular_system2.28508199
16MP0001986_abnormal_taste_sensitivity2.20320058
17MP0004272_abnormal_basement_membrane1.88245953
18MP0001529_abnormal_vocalization1.75524681
19MP0001486_abnormal_startle_reflex1.75340977
20MP0006276_abnormal_autonomic_nervous1.64714994
21MP0005171_absent_coat_pigmentation1.58116685
22MP0000537_abnormal_urethra_morphology1.57256519
23MP0002277_abnormal_respiratory_mucosa1.56894369
24MP0002938_white_spotting1.54317434
25MP0006054_spinal_hemorrhage1.48943489
26MP0005646_abnormal_pituitary_gland1.46967765
27MP0000647_abnormal_sebaceous_gland1.46480355
28MP0000534_abnormal_ureter_morphology1.44708997
29MP0003646_muscle_fatigue1.42800438
30MP0002735_abnormal_chemical_nociception1.42566332
31MP0009384_cardiac_valve_regurgitation1.42225317
32MP0003950_abnormal_plasma_membrane1.38752562
33MP0005187_abnormal_penis_morphology1.33337468
34MP0001661_extended_life_span1.32067168
35MP0004859_abnormal_synaptic_plasticity1.31023687
36MP0003880_abnormal_central_pattern1.30593167
37MP0008932_abnormal_embryonic_tissue1.30409005
38MP0003942_abnormal_urinary_system1.25911938
39MP0001293_anophthalmia1.23614017
40MP0001299_abnormal_eye_distance/1.22479587
41MP0009780_abnormal_chondrocyte_physiolo1.21993427
42MP0001270_distended_abdomen1.21974831
43MP0002139_abnormal_hepatobiliary_system1.19529356
44MP0002249_abnormal_larynx_morphology1.19129563
45MP0000751_myopathy1.15019426
46MP0000013_abnormal_adipose_tissue1.14058074
47MP0005408_hypopigmentation1.13773655
48MP0002557_abnormal_social/conspecific_i1.12231126
49MP0004270_analgesia1.11267987
50MP0005275_abnormal_skin_tensile1.10744613
51MP0000681_abnormal_thyroid_gland1.10598406
52MP0002234_abnormal_pharynx_morphology1.10015439
53MP0002098_abnormal_vibrissa_morphology1.09242971
54MP0005367_renal/urinary_system_phenotyp1.08517738
55MP0000516_abnormal_urinary_system1.08517738
56MP0001188_hyperpigmentation1.08132352
57MP0003718_maternal_effect1.06698840
58MP0002877_abnormal_melanocyte_morpholog1.06445422
59MP0010368_abnormal_lymphatic_system1.05743511
60MP0002132_abnormal_respiratory_system1.05478055
61MP0000383_abnormal_hair_follicle1.05476885
62MP0001346_abnormal_lacrimal_gland1.05427955
63MP0002184_abnormal_innervation1.05298528
64MP0000470_abnormal_stomach_morphology1.05074209
65MP0003122_maternal_imprinting1.04545602
66MP0002896_abnormal_bone_mineralization1.02722461
67MP0002697_abnormal_eye_size1.00391643
68MP0003937_abnormal_limbs/digits/tail_de0.99158455
69MP0001984_abnormal_olfaction0.97113978
70MP0004197_abnormal_fetal_growth/weight/0.96649427
71MP0005257_abnormal_intraocular_pressure0.96395493
72MP0002102_abnormal_ear_morphology0.96190023
73MP0001440_abnormal_grooming_behavior0.96058960
74MP0003121_genomic_imprinting0.95661960
75MP0002572_abnormal_emotion/affect_behav0.95566728
76MP0002269_muscular_atrophy0.94171149
77MP0008877_abnormal_DNA_methylation0.93648039
78MP0005647_abnormal_sex_gland0.93568267
79MP0003890_abnormal_embryonic-extraembry0.93465672
80MP0002396_abnormal_hematopoietic_system0.93317294
81MP0004215_abnormal_myocardial_fiber0.89754498
82MP0003119_abnormal_digestive_system0.88016284
83MP0003115_abnormal_respiratory_system0.87988824
84MP0001963_abnormal_hearing_physiology0.87135138
85MP0004885_abnormal_endolymph0.86320210
86MP0002084_abnormal_developmental_patter0.85861437
87MP0001664_abnormal_digestion0.85838780
88MP0009046_muscle_twitch0.84833950
89MP0003111_abnormal_nucleus_morphology0.84569711
90MP0001919_abnormal_reproductive_system0.84225543
91MP0002909_abnormal_adrenal_gland0.83455230
92MP0009703_decreased_birth_body0.83354433
93MP0003936_abnormal_reproductive_system0.81539725
94MP0003938_abnormal_ear_development0.81397443
95MP0003705_abnormal_hypodermis_morpholog0.81271726
96MP0002108_abnormal_muscle_morphology0.81228733
97MP0003045_fibrosis0.80697175
98MP0003861_abnormal_nervous_system0.80444635
99MP0000538_abnormal_urinary_bladder0.78779543
100MP0000639_abnormal_adrenal_gland0.78753357
101MP0003221_abnormal_cardiomyocyte_apopto0.78662662
102MP0001968_abnormal_touch/_nociception0.78639318
103MP0005389_reproductive_system_phenotype0.78584856
104MP0003385_abnormal_body_wall0.77813674
105MP0002075_abnormal_coat/hair_pigmentati0.77500564
106MP0000955_abnormal_spinal_cord0.77344408
107MP0004924_abnormal_behavior0.76981155
108MP0005386_behavior/neurological_phenoty0.76981155
109MP0001243_abnormal_dermal_layer0.76685976
110MP0005197_abnormal_uvea_morphology0.75629951
111MP0003283_abnormal_digestive_organ0.75591110
112MP0003315_abnormal_perineum_morphology0.75125344
113MP0001324_abnormal_eye_pigmentation0.75078351
114MP0003123_paternal_imprinting0.74986397
115MP0001501_abnormal_sleep_pattern0.73675797
116MP0010030_abnormal_orbit_morphology0.73655895
117MP0002163_abnormal_gland_morphology0.73568389
118MP0000026_abnormal_inner_ear0.73374413
119MP0004858_abnormal_nervous_system0.73363376
120MP0000749_muscle_degeneration0.73357611
121MP0004084_abnormal_cardiac_muscle0.73223384
122MP0005248_abnormal_Harderian_gland0.73022012
123MP0004134_abnormal_chest_morphology0.72993983
124MP0002282_abnormal_trachea_morphology0.72300415
125MP0002114_abnormal_axial_skeleton0.72055915
126MP0001340_abnormal_eyelid_morphology0.72051240
127MP0002160_abnormal_reproductive_system0.71810484
128MP0009672_abnormal_birth_weight0.71273615
129MP0003693_abnormal_embryo_hatching0.71160061
130MP0000733_abnormal_muscle_development0.70890217
131MP0009053_abnormal_anal_canal0.70856746
132MP0003935_abnormal_craniofacial_develop0.70698012
133MP0000462_abnormal_digestive_system0.69537339
134MP0003868_abnormal_feces_composition0.69223322
135MP0002090_abnormal_vision0.69214641
136MP0002295_abnormal_pulmonary_circulatio0.68376374
137MP0005508_abnormal_skeleton_morphology0.68192598
138MP0001119_abnormal_female_reproductive0.67996012
139MP0010386_abnormal_urinary_bladder0.66730672
140MP0002638_abnormal_pupillary_reflex0.66405825
141MP0003755_abnormal_palate_morphology0.66163457
142MP0009745_abnormal_behavioral_response0.63671195
143MP0002233_abnormal_nose_morphology0.62846705
144MP0001186_pigmentation_phenotype0.62788588
145MP0000631_abnormal_neuroendocrine_gland0.62519034
146MP0000627_abnormal_mammary_gland0.62236412
147MP0000762_abnormal_tongue_morphology0.61584966
148MP0002272_abnormal_nervous_system0.61158754
149MP0000049_abnormal_middle_ear0.61031273
150MP0004782_abnormal_surfactant_physiolog0.60689205
151MP0000778_abnormal_nervous_system0.58622853
152MP0001177_atelectasis0.58363319
153MP0005503_abnormal_tendon_morphology0.57578598
154MP0003566_abnormal_cell_adhesion0.57315362
155MP0009250_abnormal_appendicular_skeleto0.55612412
156MP0002116_abnormal_craniofacial_bone0.55233059
157MP0004233_abnormal_muscle_weight0.55113584
158MP0000613_abnormal_salivary_gland0.54994207
159MP0000432_abnormal_head_morphology0.54505417
160MP0010094_abnormal_chromosome_stability0.52798876
161MP0008874_decreased_physiological_sensi0.50960801
162MP0003787_abnormal_imprinting0.50944738
163MP0000427_abnormal_hair_cycle0.50615610
164MP0001286_abnormal_eye_development0.50449455
165MP0002734_abnormal_mechanical_nocicepti0.49126082
166MP0003635_abnormal_synaptic_transmissio0.48958521
167MP0002751_abnormal_autonomic_nervous0.47753782
168MP0003077_abnormal_cell_cycle0.47405898
169MP0002177_abnormal_outer_ear0.47305193

Predicted human phenotypes

RankGene SetZ-score
1Bilateral sensorineural hearing impairment (HP:0008619)8.12971570
2Dynein arm defect of respiratory motile cilia (HP:0012255)6.10822473
3Absent/shortened dynein arms (HP:0200106)6.10822473
4Chronic otitis media (HP:0000389)5.47240769
5Hyperphosphatemia (HP:0002905)5.27171239
6Abolished electroretinogram (ERG) (HP:0000550)4.63420413
7Chromosomal breakage induced by crosslinking agents (HP:0003221)4.51896166
8Tetany (HP:0001281)4.29239499
9Chromsome breakage (HP:0040012)3.97314720
10* Abnormality of dental color (HP:0011073)3.87042788
11Abnormal ciliary motility (HP:0012262)3.74506180
12Abnormal respiratory motile cilium morphology (HP:0005938)3.72564780
13Abnormal respiratory epithelium morphology (HP:0012253)3.72564780
14Cortical dysplasia (HP:0002539)3.53287773
15Ectopic kidney (HP:0000086)3.53114424
16Abnormality of the renal collecting system (HP:0004742)3.36087396
17Duplicated collecting system (HP:0000081)3.32409704
18Abnormality of calcium-phosphate metabolism (HP:0100530)3.13153728
19Prostate neoplasm (HP:0100787)2.98050643
20Premature rupture of membranes (HP:0001788)2.96119705
21Osteomalacia (HP:0002749)2.84161393
22Chronic sinusitis (HP:0011109)2.83921567
23Chronic hepatic failure (HP:0100626)2.82904790
24Abnormal respiratory motile cilium physiology (HP:0012261)2.80071800
25Septo-optic dysplasia (HP:0100842)2.76609698
26Abnormality of incisor morphology (HP:0011063)2.67432841
27Rhinitis (HP:0012384)2.64338855
28Hypergonadotropic hypogonadism (HP:0000815)2.47783715
29Small epiphyses (HP:0010585)2.47412016
30Abnormal biliary tract physiology (HP:0012439)2.41786768
31Bile duct proliferation (HP:0001408)2.41786768
32Fetal akinesia sequence (HP:0001989)2.40096964
33Vertigo (HP:0002321)2.33180851
34Exercise-induced muscle cramps (HP:0003710)2.32957016
35Hypoplasia of the capital femoral epiphysis (HP:0003090)2.32521934
36Hypoparathyroidism (HP:0000829)2.31392227
37Abnormality of glycolysis (HP:0004366)2.27635512
38Abnormality of dentin (HP:0010299)2.25452923
39Mitral stenosis (HP:0001718)2.22673689
40Increased number of teeth (HP:0011069)2.19770343
41Type 2 muscle fiber atrophy (HP:0003554)2.19418018
42Amelogenesis imperfecta (HP:0000705)2.18716082
43Vertebral arch anomaly (HP:0008438)2.18234217
44Abnormality of the preputium (HP:0100587)2.17256278
45Increased serum pyruvate (HP:0003542)2.17195991
46Termporal pattern (HP:0011008)2.16520053
47Insidious onset (HP:0003587)2.16520053
48Protrusio acetabuli (HP:0003179)2.14982525
49Congenital sensorineural hearing impairment (HP:0008527)2.14862160
50Aplasia/Hypoplasia of the uvula (HP:0010293)2.13701418
51Renal cortical cysts (HP:0000803)2.13501238
52Absent septum pellucidum (HP:0001331)2.13190345
53Rectal prolapse (HP:0002035)2.11087740
54Conical tooth (HP:0000698)2.10983612
55Gout (HP:0001997)2.10001709
56Ankle contracture (HP:0006466)2.08020250
57Coronal craniosynostosis (HP:0004440)2.07973033
58Cutaneous finger syndactyly (HP:0010554)2.06281219
59Hyperactive renin-angiotensin system (HP:0000841)2.06220588
60Hypocalcemia (HP:0002901)2.02907543
61Metabolic alkalosis (HP:0200114)2.02615701
62Patchy hypopigmentation of hair (HP:0011365)2.01091156
63Abnormality of the prostate (HP:0008775)2.00910333
64Arthropathy (HP:0003040)2.00180069
65Aplasia of the musculature (HP:0100854)1.99047576
66Hypsarrhythmia (HP:0002521)1.98746633
67Pancreatic fibrosis (HP:0100732)1.97490142
68White forelock (HP:0002211)1.97410571
69Gait imbalance (HP:0002141)1.97206935
70EEG with generalized epileptiform discharges (HP:0011198)1.95724100
71Microdontia (HP:0000691)1.94781617
72Small hand (HP:0200055)1.93918785
73Clubbing of toes (HP:0100760)1.93260068
74Oligodontia (HP:0000677)1.91955460
75Congenital primary aphakia (HP:0007707)1.91849525
76Midline defect of the nose (HP:0004122)1.91312745
77Cerebellar dysplasia (HP:0007033)1.90612759
78Pheochromocytoma (HP:0002666)1.88829114
79Epileptiform EEG discharges (HP:0011182)1.87778615
80Meckel diverticulum (HP:0002245)1.87481316
81* Parakeratosis (HP:0001036)1.86148331
82Hyperaldosteronism (HP:0000859)1.84647782
83Widely spaced teeth (HP:0000687)1.84515802
84Absent radius (HP:0003974)1.83950370
85Epiphyseal stippling (HP:0010655)1.83728916
86Abnormality of the septum pellucidum (HP:0007375)1.83681033
87Abnormality of the right ventricle (HP:0001707)1.83524830
88Aplasia involving forearm bones (HP:0009822)1.82834571
89Absent forearm bone (HP:0003953)1.82834571
90Abnormality of the carotid arteries (HP:0005344)1.82261134
91Malignant hyperthermia (HP:0002047)1.82206240
92Overlapping toe (HP:0001845)1.82195944
93Pancreatic cysts (HP:0001737)1.81846056
94Breech presentation (HP:0001623)1.81564115
95Delayed gross motor development (HP:0002194)1.79985490
96Cutaneous syndactyly (HP:0012725)1.79916203
97True hermaphroditism (HP:0010459)1.79239723
98Occipital encephalocele (HP:0002085)1.78365262
99Focal motor seizures (HP:0011153)1.77112267
100Aplasia cutis congenita (HP:0001057)1.76923253
101Proximal tubulopathy (HP:0000114)1.76553143
102Abnormality of the ileum (HP:0001549)1.76396141
103Febrile seizures (HP:0002373)1.76288637
104Hypoglycemic coma (HP:0001325)1.75611602
105Hypoplastic iliac wings (HP:0002866)1.75283109
106Autoamputation (HP:0001218)1.74657632
107Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.74186719
108Absent epiphyses (HP:0010577)1.74186719
109Muscle fiber atrophy (HP:0100295)1.73747078
110Abnormality of chromosome stability (HP:0003220)1.71607225
111Abnormality of the parietal bone (HP:0002696)1.69874791
112Entropion (HP:0000621)1.69414163
113Abnormality of the intervertebral disk (HP:0005108)1.69019620
114Soft skin (HP:0000977)1.68102728
115Long eyelashes (HP:0000527)1.67858541
116Intestinal atresia (HP:0011100)1.65829474
117Increased nuchal translucency (HP:0010880)1.65448502
118Optic nerve coloboma (HP:0000588)1.64612815
119Proximal placement of thumb (HP:0009623)1.63277921
120Type II lissencephaly (HP:0007260)1.62995183
121Open mouth (HP:0000194)1.62957902
122Deviation of the thumb (HP:0009603)1.62030535
123Volvulus (HP:0002580)1.61675457
124Drooling (HP:0002307)1.61293644
125Nephrogenic diabetes insipidus (HP:0009806)1.59040927
126Medial flaring of the eyebrow (HP:0010747)1.58512089
127Intellectual disability, moderate (HP:0002342)1.57455849
128Retrobulbar optic neuritis (HP:0100654)1.57150093
129Optic neuritis (HP:0100653)1.57150093
130Heterotopia (HP:0002282)1.56880399
131Retinal dysplasia (HP:0007973)1.56516038
132Impaired pain sensation (HP:0007328)1.55879620
133Abnormality of pain sensation (HP:0010832)1.55879620
134Abnormality of DNA repair (HP:0003254)1.55577945
135Barrel-shaped chest (HP:0001552)1.55510014
136Ulnar claw (HP:0001178)1.55097243
137Absent speech (HP:0001344)1.55072824
138Neuroendocrine neoplasm (HP:0100634)1.54639594
139Delayed eruption of teeth (HP:0000684)1.54146414
140Neonatal respiratory distress (HP:0002643)1.53921866
141Lymphopenia (HP:0001888)1.53719254
142Pachygyria (HP:0001302)1.53061225
143Adrenal hypoplasia (HP:0000835)1.52278842
144Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.52097572
145Neoplasm of the tracheobronchial system (HP:0100552)1.52064715
146Abnormality of binocular vision (HP:0011514)1.51836220
147Diplopia (HP:0000651)1.51836220
148Alveolar cell carcinoma (HP:0006519)1.51672683
149Back pain (HP:0003418)1.50445938
150Abnormal delivery (HP:0001787)1.49684030
151Gonadotropin excess (HP:0000837)1.49597023
152Hypoplastic pelvis (HP:0008839)1.49278182
153Vaginal atresia (HP:0000148)1.48351332
154Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)1.47268355
155Abnormality of methionine metabolism (HP:0010901)1.46578124
156Dental crowding (HP:0000678)1.46219240
157Genital tract atresia (HP:0001827)1.45378377
158Hammertoe (HP:0001765)1.44187418
159Megaloblastic anemia (HP:0001889)1.42385904
160Beaking of vertebral bodies (HP:0004568)1.41991366
161Keratoconus (HP:0000563)1.41171296
162Increased corneal curvature (HP:0100692)1.41171296
163Abnormality of the fetal cardiovascular system (HP:0010948)1.40695094
164Abnormal umbilical cord blood vessels (HP:0011403)1.40695094
165Single umbilical artery (HP:0001195)1.40695094
166Urinary urgency (HP:0000012)1.40664176
167Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.40532834
168Short tibia (HP:0005736)1.40332050
169Pterygium (HP:0001059)1.36887628
170Upper limb muscle weakness (HP:0003484)1.36450331
171Abnormality of the intrinsic pathway (HP:0010989)1.35816534
172Abnormality of the epiphyses of the hand (HP:0005924)1.35298872
173Fibular aplasia (HP:0002990)1.35201206
174Abnormality of the corticospinal tract (HP:0002492)1.35083223
175Lissencephaly (HP:0001339)1.34235136
176Postnatal microcephaly (HP:0005484)1.33566015
177Brushfield spots (HP:0001088)1.33408411
178Morphological abnormality of the middle ear (HP:0008609)1.32540492
179Abnormality involving the epiphyses of the upper limbs (HP:0003839)1.31509333
180Spinal rigidity (HP:0003306)1.30652760
181Abnormal lung lobation (HP:0002101)1.30584258
182Abnormality of the renal cortex (HP:0011035)1.29156179
183Septate vagina (HP:0001153)1.29039180
184Micropenis (HP:0000054)1.28675829
185Pulmonic stenosis (HP:0001642)1.28563314
186Wide anterior fontanel (HP:0000260)1.28488871
187Aplasia/Hypoplasia of the lens (HP:0008063)1.27563669
188Chorioretinal atrophy (HP:0000533)1.27132384
189Limb-girdle muscle weakness (HP:0003325)1.26986461
190Short foot (HP:0001773)1.26799095
191Microglossia (HP:0000171)1.26684704
192Wormian bones (HP:0002645)1.26618927
193Zonular cataract (HP:0010920)1.26419959
194Abnormal epiphyseal ossification (HP:0010656)1.26223827
195Astrocytoma (HP:0009592)1.26185744
196Abnormality of the astrocytes (HP:0100707)1.26185744
197Atrioventricular canal defect (HP:0006695)1.25891276

Predicted kinase interactions (KEA)

RankGene SetZ-score
1SIK38.80456330
2SIK25.92610001
3SIK15.12213136
4EPHA23.70914954
5LATS13.48641085
6MARK32.96108579
7BCR2.77907983
8NEK12.68535538
9STK38L2.34418884
10EIF2AK32.31389454
11PBK2.20306308
12TRIM282.19995758
13ZAK2.00330955
14LATS21.97828823
15PAK41.88375963
16CDK81.85023559
17WNK41.83291813
18LIMK11.80073154
19NEK91.78527499
20PRKD31.71662999
21EPHA41.69130640
22TSSK61.67562638
23EIF2AK11.61290549
24PRPF4B1.59991025
25MARK21.54371311
26PDK21.52989453
27ERBB41.45361102
28MET1.44947988
29LMTK21.42795375
30STK381.32021791
31BUB11.32012273
32PHKG21.29301554
33PHKG11.29301554
34PDGFRA1.26102366
35PNCK1.24936078
36ADRBK21.23672075
37MARK11.22927089
38TXK1.22149275
39STK391.21845956
40NTRK11.21273643
41TNIK1.20158385
42MAPK131.19751409
43NTRK31.16826298
44SRPK11.16202756
45TESK11.12507007
46CDK121.08402169
47RPS6KA41.08264056
48SCYL21.05861761
49ICK1.03778021
50MST1R0.98338315
51SGK20.98248645
52STK30.97572095
53TTK0.92683331
54MST40.92438505
55WEE10.91501134
56WNK30.90777893
57MAP2K70.90374729
58TAOK20.89041300
59MAP3K120.87678545
60CDK70.87602783
61CHEK20.87200616
62PRKCE0.85912331
63WNK10.85791813
64YES10.82346221
65CSNK1D0.80105570
66BRD40.80049816
67PTK20.79521303
68CAMK10.77323212
69CSNK1A1L0.76478414
70CAMK2B0.76305582
71CDK30.75664827
72CASK0.73673387
73MAPKAPK50.72778980
74MAP3K60.69968472
75CDK180.69547646
76PAK20.69092553
77MAP4K20.68585224
78DYRK30.68436383
79CAMK2D0.67304592
80FLT30.67266738
81CDK140.66603801
82IRAK40.65011423
83MINK10.64378896
84BRSK10.64193153
85PAK30.63237977
86EIF2AK20.62233158
87DDR20.60984228
88CDK150.59822315
89PLK40.59193023
90MKNK20.58757058
91TNK20.58680625
92VRK10.58669795
93MUSK0.57095435
94SGK30.57020269
95FER0.56270727
96GRK10.56126757
97TEC0.55710872
98BRSK20.55480540
99VRK20.55167149
100CLK10.54959825
101PLK30.54049663
102PIM20.53094489
103CAMK2G0.52774485
104PRKCG0.51453542
105CDK11A0.49379421
106MKNK10.49288680
107AKT20.49048331
108CCNB10.48501783
109IRAK20.48113982
110CAMK2A0.47055981
111ATR0.46838191
112OBSCN0.46036418
113AURKB0.44675572
114AKT30.43426151
115CAMK40.43055373
116PLK20.42888409
117CDK60.42424957
118CAMK1G0.41505292
119SGK4940.41299014
120SGK2230.41299014
121PKN20.41261890
122CDC70.41222825
123MAP2K40.40722148
124CSNK1G30.40453830
125PIK3CA0.39982627
126SGK10.38537043
127MAP3K50.37468857
128BMPR1B0.36482011
129CHEK10.36163303
130ALK0.35786077
131PKN10.35271518
132PRKAA10.35177444
133ERBB30.35075416
134NEK20.34734030
135CSNK1G20.33993648
136IRAK30.33857751
137PRKG10.32462998
138NEK60.32210924
139CSNK1G10.32125441
140MAP3K130.29825407
141INSRR0.29203308
142MAP3K140.28683721
143AKT10.27481292
144FGR0.25108371
145PRKAA20.24992767
146BMPR20.24785005
147HCK0.23975573
148TRPM70.23601936
149NTRK20.23172485
150MAPK100.22831582
151ATM0.22448568
152RPS6KB10.21006274
153MAPK110.19218792
154MAP3K40.19159602
155MAPK70.18313920
156LYN0.16730254
157MAP2K60.16275532
158PLK10.15711843
159GRK70.15619231
160NUAK10.15070212
161INSR0.15066934
162RPS6KC10.12008486

Predicted pathways (KEGG)

RankGene SetZ-score
1Steroid biosynthesis_Homo sapiens_hsa001003.33195673
2Terpenoid backbone biosynthesis_Homo sapiens_hsa009003.15427570
3Nicotine addiction_Homo sapiens_hsa050332.69796549
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.48177130
5Mineral absorption_Homo sapiens_hsa049782.44179746
6Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.19544856
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.16806411
8Vitamin B6 metabolism_Homo sapiens_hsa007501.98246877
9Protein export_Homo sapiens_hsa030601.95919293
10Axon guidance_Homo sapiens_hsa043601.90034459
11Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.88235415
12Toll-like receptor signaling pathway_Homo sapiens_hsa046201.86182152
13Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.76745279
14Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.71315406
15Primary bile acid biosynthesis_Homo sapiens_hsa001201.63453738
16Fanconi anemia pathway_Homo sapiens_hsa034601.62814993
17Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.62616379
18Fatty acid elongation_Homo sapiens_hsa000621.61290096
192-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.61197045
20Butanoate metabolism_Homo sapiens_hsa006501.59429219
21Pyruvate metabolism_Homo sapiens_hsa006201.45950092
22Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.45133544
23NF-kappa B signaling pathway_Homo sapiens_hsa040641.43657112
24Fatty acid metabolism_Homo sapiens_hsa012121.43183351
25Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.41666781
26Melanoma_Homo sapiens_hsa052181.40634616
27Propanoate metabolism_Homo sapiens_hsa006401.40587562
28Biosynthesis of amino acids_Homo sapiens_hsa012301.40120942
29Primary immunodeficiency_Homo sapiens_hsa053401.39399022
30Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.35988617
31Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.35459265
32Homologous recombination_Homo sapiens_hsa034401.34985065
33* Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.34672451
34Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.31242043
35Serotonergic synapse_Homo sapiens_hsa047261.30270608
36Selenocompound metabolism_Homo sapiens_hsa004501.29962073
37Calcium signaling pathway_Homo sapiens_hsa040201.28547165
38Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.27734431
39Taste transduction_Homo sapiens_hsa047421.27100367
40Notch signaling pathway_Homo sapiens_hsa043301.26668990
41Ovarian steroidogenesis_Homo sapiens_hsa049131.26495496
42Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.23059099
43Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.22178439
44Renal cell carcinoma_Homo sapiens_hsa052111.21850034
45ErbB signaling pathway_Homo sapiens_hsa040121.21054005
46MicroRNAs in cancer_Homo sapiens_hsa052061.20789246
47Phosphatidylinositol signaling system_Homo sapiens_hsa040701.20537479
48Arginine biosynthesis_Homo sapiens_hsa002201.19190240
49N-Glycan biosynthesis_Homo sapiens_hsa005101.19123856
50Carbon metabolism_Homo sapiens_hsa012001.17591568
51Morphine addiction_Homo sapiens_hsa050321.17166925
52Cysteine and methionine metabolism_Homo sapiens_hsa002701.16282178
53Hematopoietic cell lineage_Homo sapiens_hsa046401.16256044
54RNA transport_Homo sapiens_hsa030131.14870189
55Wnt signaling pathway_Homo sapiens_hsa043101.13349989
56Glutamatergic synapse_Homo sapiens_hsa047241.13192246
57Arginine and proline metabolism_Homo sapiens_hsa003301.12478730
58Cell cycle_Homo sapiens_hsa041101.09463861
59Type II diabetes mellitus_Homo sapiens_hsa049301.08550379
60Circadian rhythm_Homo sapiens_hsa047101.08192610
61Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.07677190
62SNARE interactions in vesicular transport_Homo sapiens_hsa041301.07498411
63Adherens junction_Homo sapiens_hsa045201.04053952
64Peroxisome_Homo sapiens_hsa041461.03795435
65Ras signaling pathway_Homo sapiens_hsa040141.03668333
66One carbon pool by folate_Homo sapiens_hsa006701.01482774
67Regulation of actin cytoskeleton_Homo sapiens_hsa048101.01407630
68Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.00974609
69Basal transcription factors_Homo sapiens_hsa030221.00710472
70Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.00551594
71Vibrio cholerae infection_Homo sapiens_hsa051101.00445134
72Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.99502781
73Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.98626337
74Lysine degradation_Homo sapiens_hsa003100.98521010
75T cell receptor signaling pathway_Homo sapiens_hsa046600.97445950
76ECM-receptor interaction_Homo sapiens_hsa045120.96740143
77Long-term depression_Homo sapiens_hsa047300.95563680
78Circadian entrainment_Homo sapiens_hsa047130.95481331
79Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.93310081
80Steroid hormone biosynthesis_Homo sapiens_hsa001400.92938913
81Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.92016423
82Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.91819960
83Fatty acid biosynthesis_Homo sapiens_hsa000610.91681395
84Intestinal immune network for IgA production_Homo sapiens_hsa046720.91665203
85Nucleotide excision repair_Homo sapiens_hsa034200.90462915
86Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.90410548
87Non-homologous end-joining_Homo sapiens_hsa034500.89885303
88Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.88002308
89Tuberculosis_Homo sapiens_hsa051520.87766766
90Sphingolipid metabolism_Homo sapiens_hsa006000.86743127
91Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.84815806
92Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.84510737
93Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.84415020
94HTLV-I infection_Homo sapiens_hsa051660.83487226
95Choline metabolism in cancer_Homo sapiens_hsa052310.82714798
96Measles_Homo sapiens_hsa051620.82605827
97Hippo signaling pathway_Homo sapiens_hsa043900.81613338
98Transcriptional misregulation in cancer_Homo sapiens_hsa052020.81174311
99GABAergic synapse_Homo sapiens_hsa047270.78944712
100beta-Alanine metabolism_Homo sapiens_hsa004100.78736107
101mRNA surveillance pathway_Homo sapiens_hsa030150.77767218
102Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.77718259
103Fatty acid degradation_Homo sapiens_hsa000710.77641770
104Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.77287617
105Rap1 signaling pathway_Homo sapiens_hsa040150.77052183
106Oocyte meiosis_Homo sapiens_hsa041140.74578918
107FoxO signaling pathway_Homo sapiens_hsa040680.74169651
108Glycosaminoglycan degradation_Homo sapiens_hsa005310.72785847
109Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.72084742
110Leishmaniasis_Homo sapiens_hsa051400.71604259
111Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.70740873
112p53 signaling pathway_Homo sapiens_hsa041150.70682122
113Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.70536668
114African trypanosomiasis_Homo sapiens_hsa051430.70145910
115MAPK signaling pathway_Homo sapiens_hsa040100.69824983
116Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.69181534
117Central carbon metabolism in cancer_Homo sapiens_hsa052300.67435328
118Basal cell carcinoma_Homo sapiens_hsa052170.65534900
119Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.65508732
120DNA replication_Homo sapiens_hsa030300.64833643
121Pentose and glucuronate interconversions_Homo sapiens_hsa000400.64727605
122TGF-beta signaling pathway_Homo sapiens_hsa043500.62821398
123RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.62746731
124NOD-like receptor signaling pathway_Homo sapiens_hsa046210.62005841
125cAMP signaling pathway_Homo sapiens_hsa040240.60476159
126Pancreatic cancer_Homo sapiens_hsa052120.60268016
127Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.60004081
128Herpes simplex infection_Homo sapiens_hsa051680.59585056
129PI3K-Akt signaling pathway_Homo sapiens_hsa041510.59501285
130Sulfur metabolism_Homo sapiens_hsa009200.59411282
131Pathways in cancer_Homo sapiens_hsa052000.59341703
132Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.57947768
133AMPK signaling pathway_Homo sapiens_hsa041520.57806841
134Synaptic vesicle cycle_Homo sapiens_hsa047210.57787667
135Phenylalanine metabolism_Homo sapiens_hsa003600.57763242
136Hedgehog signaling pathway_Homo sapiens_hsa043400.57643548
137Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.57338985
138Metabolic pathways_Homo sapiens_hsa011000.56798247
139Cholinergic synapse_Homo sapiens_hsa047250.56783897
140Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.56108225
141Cocaine addiction_Homo sapiens_hsa050300.55894062
142Shigellosis_Homo sapiens_hsa051310.55873519
143Fructose and mannose metabolism_Homo sapiens_hsa000510.55851799
144Colorectal cancer_Homo sapiens_hsa052100.54118837
145Long-term potentiation_Homo sapiens_hsa047200.53566332
146Hepatitis B_Homo sapiens_hsa051610.52799973
147Spliceosome_Homo sapiens_hsa030400.51987922
148RNA degradation_Homo sapiens_hsa030180.51971806
149Jak-STAT signaling pathway_Homo sapiens_hsa046300.51048596
150Ether lipid metabolism_Homo sapiens_hsa005650.50905608
151Mismatch repair_Homo sapiens_hsa034300.50165718
152Autoimmune thyroid disease_Homo sapiens_hsa053200.49984737
153Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.49739951
154TNF signaling pathway_Homo sapiens_hsa046680.49560237
155Pentose phosphate pathway_Homo sapiens_hsa000300.47251607
156Toxoplasmosis_Homo sapiens_hsa051450.47069118
157Osteoclast differentiation_Homo sapiens_hsa043800.46920750
158Pyrimidine metabolism_Homo sapiens_hsa002400.46648295
159Salmonella infection_Homo sapiens_hsa051320.46628094
160Chronic myeloid leukemia_Homo sapiens_hsa052200.46437221
161Small cell lung cancer_Homo sapiens_hsa052220.46153233
162Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.45071866
163Dopaminergic synapse_Homo sapiens_hsa047280.44215073
164Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.44211669
165Dilated cardiomyopathy_Homo sapiens_hsa054140.44158447
166RNA polymerase_Homo sapiens_hsa030200.43553231
167Bile secretion_Homo sapiens_hsa049760.43122956
168Tyrosine metabolism_Homo sapiens_hsa003500.42534520
169Tryptophan metabolism_Homo sapiens_hsa003800.38146771
170Starch and sucrose metabolism_Homo sapiens_hsa005000.36898624
171Glutathione metabolism_Homo sapiens_hsa004800.36735948
172Purine metabolism_Homo sapiens_hsa002300.36716362
173Folate biosynthesis_Homo sapiens_hsa007900.36541668
174Thyroid hormone synthesis_Homo sapiens_hsa049180.36469358
175PPAR signaling pathway_Homo sapiens_hsa033200.35528319

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