PAX4

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 is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cell migration involved in gastrulation (GO:0042074)9.07961593
2signal transduction involved in regulation of gene expression (GO:0023019)7.87223655
3negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)7.15344310
4* endocrine pancreas development (GO:0031018)7.08006157
5primary alcohol catabolic process (GO:0034310)6.99871374
6response to pheromone (GO:0019236)6.70307928
7regulation of cellular extravasation (GO:0002691)6.61926728
8proline biosynthetic process (GO:0006561)6.56848013
9positive regulation of gastrulation (GO:2000543)6.36941708
10intestinal epithelial cell development (GO:0060576)5.92425506
11glandular epithelial cell differentiation (GO:0002067)5.89695612
12regulation of mesoderm development (GO:2000380)5.87184591
13ethanol metabolic process (GO:0006067)5.64227210
14mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.40553009
15gastrulation (GO:0007369)5.15896606
16energy coupled proton transport, down electrochemical gradient (GO:0015985)4.92649375
17ATP synthesis coupled proton transport (GO:0015986)4.92649375
18protein K11-linked deubiquitination (GO:0035871)4.87851417
19positive regulation of cAMP-mediated signaling (GO:0043950)4.80900010
20exocrine pancreas development (GO:0031017)4.76896567
21type B pancreatic cell development (GO:0003323)4.74245153
22secondary heart field specification (GO:0003139)4.72481043
23heart field specification (GO:0003128)4.72481043
24intestinal absorption (GO:0050892)4.50806549
25epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)4.42266264
26otic vesicle formation (GO:0030916)4.34120233
27water-soluble vitamin biosynthetic process (GO:0042364)4.33020455
28calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)4.30996635
29membrane repolarization during cardiac muscle cell action potential (GO:0086013)4.20750334
30columnar/cuboidal epithelial cell development (GO:0002066)4.16911927
31detection of light stimulus involved in sensory perception (GO:0050962)4.16760037
32detection of light stimulus involved in visual perception (GO:0050908)4.16760037
33Golgi transport vesicle coating (GO:0048200)4.06677879
34COPI coating of Golgi vesicle (GO:0048205)4.06677879
35proline metabolic process (GO:0006560)3.93210949
36pentose metabolic process (GO:0019321)3.92941576
37regulation of cell-cell adhesion mediated by cadherin (GO:2000047)3.85875338
38adaptation of signaling pathway (GO:0023058)3.81579166
39platelet dense granule organization (GO:0060155)3.81141080
40behavioral response to nicotine (GO:0035095)3.77589623
41primitive streak formation (GO:0090009)3.76194868
42kidney morphogenesis (GO:0060993)3.73489612
43dopaminergic neuron differentiation (GO:0071542)3.69277653
44folic acid-containing compound biosynthetic process (GO:0009396)3.67227983
45glandular epithelial cell development (GO:0002068)3.64945698
46membrane repolarization during action potential (GO:0086011)3.61493114
47potassium ion export (GO:0071435)3.54607304
48regulation of hydrogen peroxide metabolic process (GO:0010310)3.53287379
49neuronal stem cell maintenance (GO:0097150)3.49885700
50cell differentiation involved in embryonic placenta development (GO:0060706)3.49882753
51mesonephros development (GO:0001823)3.47830808
52negative regulation of synaptic transmission, GABAergic (GO:0032229)3.45563302
53fat-soluble vitamin catabolic process (GO:0042363)3.40219878
54vitamin catabolic process (GO:0009111)3.40219878
55positive regulation of insulin secretion (GO:0032024)3.39942527
56somite rostral/caudal axis specification (GO:0032525)3.39332528
57digestive system process (GO:0022600)3.38378071
58negative regulation of keratinocyte proliferation (GO:0010839)3.38283186
59tachykinin receptor signaling pathway (GO:0007217)3.31840760
60regulation of vitamin metabolic process (GO:0030656)3.28868468
61protein localization to cilium (GO:0061512)3.27602637
62limb bud formation (GO:0060174)3.27378670
63dentate gyrus development (GO:0021542)3.26204609
64negative regulation of cell fate specification (GO:0009996)3.21787028
65respiratory chain complex IV assembly (GO:0008535)3.20599585
66anterograde synaptic vesicle transport (GO:0048490)3.17564927
67specification of organ identity (GO:0010092)3.15524829
68positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)3.13793005
69detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.13153863
70L-fucose catabolic process (GO:0042355)3.10038259
71fucose catabolic process (GO:0019317)3.10038259
72L-fucose metabolic process (GO:0042354)3.10038259
73regulation of meiosis I (GO:0060631)3.08842206
74cornea development in camera-type eye (GO:0061303)3.07993355
75purine deoxyribonucleotide catabolic process (GO:0009155)3.04517077
76regulation of collateral sprouting (GO:0048670)3.00828216
77branching involved in salivary gland morphogenesis (GO:0060445)3.00133535
78glycosphingolipid biosynthetic process (GO:0006688)2.99005075
79regulation of hematopoietic progenitor cell differentiation (GO:1901532)2.98474201
80neural tube formation (GO:0001841)2.97647943
81lens fiber cell development (GO:0070307)2.97315109
82regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.96772139
83regulation of mitotic spindle checkpoint (GO:1903504)2.96772139
84NADH metabolic process (GO:0006734)2.96640106
85C4-dicarboxylate transport (GO:0015740)2.96058843
86glycerophospholipid catabolic process (GO:0046475)2.94451983
87negative regulation of Notch signaling pathway (GO:0045746)2.94313449
88regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.93967481
89regulation of respiratory burst (GO:0060263)2.93381859
90regulation of cardioblast differentiation (GO:0051890)2.93043540
91neuron fate determination (GO:0048664)2.89765535
92epithelial cilium movement (GO:0003351)2.89177172
93axoneme assembly (GO:0035082)2.88605417
94exploration behavior (GO:0035640)2.88299037
95regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.87417769
96indolalkylamine metabolic process (GO:0006586)2.86079627
97regulation of substrate adhesion-dependent cell spreading (GO:1900024)2.85697113
98outflow tract septum morphogenesis (GO:0003148)2.85657122
99negative regulation of cytosolic calcium ion concentration (GO:0051481)2.84618364
100regulation of gastrulation (GO:0010470)2.80693340
101regulation of early endosome to late endosome transport (GO:2000641)2.78794582
102endoderm development (GO:0007492)2.78318591
103somatic diversification of immune receptors via somatic mutation (GO:0002566)2.78103175
104somatic hypermutation of immunoglobulin genes (GO:0016446)2.78103175
105C-terminal protein amino acid modification (GO:0018410)2.76408739
106cellular ketone body metabolic process (GO:0046950)2.75167147
107regulation of cell fate specification (GO:0042659)2.74636460
108nitric oxide mediated signal transduction (GO:0007263)2.73096755
109peptide hormone processing (GO:0016486)2.73080674
110cullin deneddylation (GO:0010388)2.71681253
111regulation of meiosis (GO:0040020)2.70389828
112thyroid hormone generation (GO:0006590)2.70023955
113glial cell proliferation (GO:0014009)2.69095578
114retinal cone cell development (GO:0046549)2.69001206
115preassembly of GPI anchor in ER membrane (GO:0016254)2.68938162
116maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.68397119
117triglyceride homeostasis (GO:0070328)2.67904711
118acylglycerol homeostasis (GO:0055090)2.67904711
119glutamine family amino acid biosynthetic process (GO:0009084)2.67212856
120protein maturation by protein folding (GO:0022417)2.66271606
121dopamine transport (GO:0015872)2.65137871
122digestion (GO:0007586)2.64834562
123intestinal cholesterol absorption (GO:0030299)2.64536616
124regulation of glucokinase activity (GO:0033131)2.64113842
125regulation of hexokinase activity (GO:1903299)2.64113842
126L-serine transport (GO:0015825)2.64007041
127ether lipid metabolic process (GO:0046485)2.63704342
128respiratory electron transport chain (GO:0022904)2.63589195
129cilium movement (GO:0003341)2.63367877
130negative regulation of cell fate commitment (GO:0010454)2.62556906
131inner ear receptor stereocilium organization (GO:0060122)2.62328908
132lung morphogenesis (GO:0060425)2.60892588
133GDP-mannose metabolic process (GO:0019673)2.60035907
134neuronal action potential propagation (GO:0019227)2.59894164
135positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.59482299
136positive regulation of peptide hormone secretion (GO:0090277)2.58982518
137atrioventricular valve morphogenesis (GO:0003181)2.58557380
138dopamine biosynthetic process (GO:0042416)2.58553316
139cardiac epithelial to mesenchymal transition (GO:0060317)2.58489690
140inositol phosphate catabolic process (GO:0071545)2.58428510
141negative regulation of insulin secretion (GO:0046676)2.58348663
142lung secretory cell differentiation (GO:0061140)2.57546248
143multicellular organism reproduction (GO:0032504)2.57045792
144Golgi to endosome transport (GO:0006895)2.56988824
145electron transport chain (GO:0022900)2.56857313
146histone H2A ubiquitination (GO:0033522)2.56532182
147cellular response to sterol (GO:0036315)2.56377373
148mannosylation (GO:0097502)2.55289470
149galactose catabolic process (GO:0019388)2.55193729
150Notch signaling involved in heart development (GO:0061314)2.55177686
151ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162.54190241
152positive regulation of peptide secretion (GO:0002793)2.53629680
153pteridine-containing compound biosynthetic process (GO:0042559)2.53261343
154activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.52675611
155sperm motility (GO:0030317)2.51917464
156cytochrome complex assembly (GO:0017004)2.51736944
157thyroid hormone metabolic process (GO:0042403)2.50482010
158negative regulation of dendrite development (GO:2000171)2.50271223
159synaptic transmission, cholinergic (GO:0007271)2.50212615
160positive regulation of nuclease activity (GO:0032075)2.49686487
161aorta morphogenesis (GO:0035909)2.47860208
162spinal cord motor neuron differentiation (GO:0021522)2.45488069
163regulation of action potential (GO:0098900)2.43870961
164nucleoside diphosphate catabolic process (GO:0009134)2.43377376
165protein deneddylation (GO:0000338)2.42722436
166ketone body metabolic process (GO:1902224)2.42663130
167dendritic spine morphogenesis (GO:0060997)2.42409233
168protein-cofactor linkage (GO:0018065)2.41724063
169positive regulation of mitochondrial fission (GO:0090141)2.40150432
170regulation of male gonad development (GO:2000018)2.39710352
171GPI anchor metabolic process (GO:0006505)2.37977662
172regulation of development, heterochronic (GO:0040034)2.37878888
173adult feeding behavior (GO:0008343)2.37525005
174regulation of telomere maintenance (GO:0032204)2.36849684
175auditory receptor cell differentiation (GO:0042491)2.36734937
176cyclic nucleotide catabolic process (GO:0009214)2.36544260
177embryonic digestive tract development (GO:0048566)2.35639863
178phosphatidylinositol acyl-chain remodeling (GO:0036149)2.35113001
179deoxyribonucleoside diphosphate metabolic process (GO:0009186)2.34440317
180amine catabolic process (GO:0009310)2.33582132
181cellular biogenic amine catabolic process (GO:0042402)2.33582132
182regulation of timing of cell differentiation (GO:0048505)2.32775951
183magnesium ion transport (GO:0015693)2.32699604
184mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.32340692
185mitochondrial respiratory chain complex I assembly (GO:0032981)2.32340692
186NADH dehydrogenase complex assembly (GO:0010257)2.32340692
187adenosine metabolic process (GO:0046085)2.31955498
188synaptic vesicle maturation (GO:0016188)2.31785177
189catecholamine transport (GO:0051937)2.31544521
190establishment of protein localization to Golgi (GO:0072600)2.31402260
191G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.31124353
192protein targeting to Golgi (GO:0000042)2.31028218
193somite development (GO:0061053)2.30554849
194ubiquinone metabolic process (GO:0006743)2.30228468
195protein complex biogenesis (GO:0070271)2.28498396
196DNA deamination (GO:0045006)2.27972467
197behavioral response to ethanol (GO:0048149)2.27903293
198photoreceptor cell maintenance (GO:0045494)2.27266212
199replication fork processing (GO:0031297)2.26969145

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human6.23949004
2ZNF274_21170338_ChIP-Seq_K562_Hela3.47218805
3GBX2_23144817_ChIP-Seq_PC3_Human3.35815520
4THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.24349286
5CDX2_20551321_ChIP-Seq_CACO-2_Human2.86378840
6EZH2_22144423_ChIP-Seq_EOC_Human2.68765007
7VDR_22108803_ChIP-Seq_LS180_Human2.66777742
8ZFP57_27257070_Chip-Seq_ESCs_Mouse2.66567365
9FLI1_27457419_Chip-Seq_LIVER_Mouse2.65077925
10IGF1R_20145208_ChIP-Seq_DFB_Human2.59782742
11POU3F2_20337985_ChIP-ChIP_501MEL_Human2.54129314
12ZNF263_19887448_ChIP-Seq_K562_Human2.38282762
13SALL1_21062744_ChIP-ChIP_HESCs_Human2.37511148
14CTBP2_25329375_ChIP-Seq_LNCAP_Human2.35751035
15SRY_22984422_ChIP-ChIP_TESTIS_Rat2.23991152
16P300_19829295_ChIP-Seq_ESCs_Human2.17517061
17PCGF2_27294783_Chip-Seq_ESCs_Mouse2.15974957
18CTBP1_25329375_ChIP-Seq_LNCAP_Human2.11696532
19GATA6_25053715_ChIP-Seq_YYC3_Human2.09803783
20ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse2.09211858
21HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.08922564
22TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.07794193
23TAF15_26573619_Chip-Seq_HEK293_Human2.05938804
24ZIC3_20872845_ChIP-ChIP_MESCs_Mouse2.05464398
25GATA4_25053715_ChIP-Seq_YYC3_Human2.04578405
26SOX2_27498859_Chip-Seq_STOMACH_Mouse2.04410552
27FUS_26573619_Chip-Seq_HEK293_Human2.04376642
28BCAT_22108803_ChIP-Seq_LS180_Human2.03136119
29EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.03043111
30STAT6_21828071_ChIP-Seq_BEAS2B_Human1.97973461
31SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.97338320
32PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.95751342
33CLOCK_20551151_ChIP-Seq_293T_Human1.94024342
34ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.92168406
35ZFP281_18757296_ChIP-ChIP_E14_Mouse1.90065561
36NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.89191338
37PCGF2_27294783_Chip-Seq_NPCs_Mouse1.89089146
38SOX2_20726797_ChIP-Seq_SW620_Human1.88351780
39ATF3_27146783_Chip-Seq_COLON_Human1.85898307
40ER_23166858_ChIP-Seq_MCF-7_Human1.84951275
41EWS_26573619_Chip-Seq_HEK293_Human1.84899808
42E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.82996111
43ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.82819898
44SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.82019935
45TRIM28_21343339_ChIP-Seq_HEK293_Human1.77912309
46ERG_21242973_ChIP-ChIP_JURKAT_Human1.75666933
47FOXM1_23109430_ChIP-Seq_U2OS_Human1.73554279
48TCF3_18692474_ChIP-Seq_MEFs_Mouse1.71000772
49HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.69289026
50NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.68181468
51AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.68153862
52NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.68084395
53RUNX1_27514584_Chip-Seq_MCF-7_Human1.67816124
54GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.66956655
55EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.65933844
56SMAD4_21799915_ChIP-Seq_A2780_Human1.65671409
57POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.65306136
58TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.65306136
59CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.65294183
60IRF1_19129219_ChIP-ChIP_H3396_Human1.64287445
61IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.62631233
62CBP_20019798_ChIP-Seq_JUKART_Human1.62631233
63TP53_22573176_ChIP-Seq_HFKS_Human1.60922983
64RNF2_18974828_ChIP-Seq_MESCs_Mouse1.60407647
65EZH2_18974828_ChIP-Seq_MESCs_Mouse1.60407647
66PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.57702056
67SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.57186129
68RACK7_27058665_Chip-Seq_MCF-7_Human1.56204946
69SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.55357332
70UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.54588373
71MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.54550068
72STAT3_23295773_ChIP-Seq_U87_Human1.54362368
73AR_25329375_ChIP-Seq_VCAP_Human1.53324116
74JARID2_20075857_ChIP-Seq_MESCs_Mouse1.53152861
75MYC_18555785_ChIP-Seq_MESCs_Mouse1.51925804
76AR_21909140_ChIP-Seq_LNCAP_Human1.51791022
77OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.50584818
78SMAD3_21741376_ChIP-Seq_EPCs_Human1.50519369
79SUZ12_27294783_Chip-Seq_NPCs_Mouse1.49353359
80ESR2_21235772_ChIP-Seq_MCF-7_Human1.48339265
81SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.48316662
82SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.47698358
83CTCF_27219007_Chip-Seq_Bcells_Human1.47605155
84TCF4_23295773_ChIP-Seq_U87_Human1.46265646
85PIAS1_25552417_ChIP-Seq_VCAP_Human1.45990688
86ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.45461884
87EED_16625203_ChIP-ChIP_MESCs_Mouse1.44317667
88MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.43774698
89UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.43060736
90OCT4_18692474_ChIP-Seq_MEFs_Mouse1.42873711
91NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.42339178
92NFE2_27457419_Chip-Seq_LIVER_Mouse1.41690072
93BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.41116189
94TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.40600788
95JARID2_20064375_ChIP-Seq_MESCs_Mouse1.38887103
96TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.38886707
97SMAD4_21741376_ChIP-Seq_EPCs_Human1.38245943
98* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.38186630
99PPARA_22158963_ChIP-Seq_LIVER_Mouse1.37561335
100* SOX2_19829295_ChIP-Seq_ESCs_Human1.37413410
101* NANOG_19829295_ChIP-Seq_ESCs_Human1.37413410
102LXR_22292898_ChIP-Seq_THP-1_Human1.36632849
103KLF5_20875108_ChIP-Seq_MESCs_Mouse1.35973789
104SUZ12_27294783_Chip-Seq_ESCs_Mouse1.35438209
105TCF4_22108803_ChIP-Seq_LS180_Human1.33845744
106PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.32220142
107NOTCH1_21737748_ChIP-Seq_TLL_Human1.31988162
108RUNX2_22187159_ChIP-Seq_PCA_Human1.31892576
109SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.31782597
110FOXA1_27270436_Chip-Seq_PROSTATE_Human1.31123313
111FOXA1_25329375_ChIP-Seq_VCAP_Human1.31123313
112GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.30465560
113OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30104284
114CREB1_26743006_Chip-Seq_LNCaP_Human1.29982356
115EZH2_27294783_Chip-Seq_NPCs_Mouse1.29360804
116TOP2B_26459242_ChIP-Seq_MCF-7_Human1.28373266
117* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.28014458
118CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.27592647
119CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.26448547
120KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.26243198
121ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.25896608
122NANOG_18555785_Chip-Seq_ESCs_Mouse1.25713674
123KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.25647333
124ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.25291508
125TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.24074010
126CDX2_22108803_ChIP-Seq_LS180_Human1.22899122
127EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.22476770
128ETV2_25802403_ChIP-Seq_MESCs_Mouse1.21910466
129TP53_20018659_ChIP-ChIP_R1E_Mouse1.21857115
130NR3C1_21868756_ChIP-Seq_MCF10A_Human1.21368989
131EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.20095996
132FOXA1_21572438_ChIP-Seq_LNCaP_Human1.19710060
133MYC_19079543_ChIP-ChIP_MESCs_Mouse1.19533343
134EOMES_21245162_ChIP-Seq_HESCs_Human1.19382545
135NANOG_18555785_ChIP-Seq_MESCs_Mouse1.19032779
136RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.18153490
137FLI1_21867929_ChIP-Seq_TH2_Mouse1.18130828
138PRDM14_20953172_ChIP-Seq_ESCs_Human1.17517902
139KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.17387797
140CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16843371
141SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.16504818
142P53_22387025_ChIP-Seq_ESCs_Mouse1.15007038
143EZH2_27294783_Chip-Seq_ESCs_Mouse1.14636040
144SOX2_18692474_ChIP-Seq_MEFs_Mouse1.14175235
145FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.13878535
146* REST_21632747_ChIP-Seq_MESCs_Mouse1.13369327
147GABP_17652178_ChIP-ChIP_JURKAT_Human1.13156924
148MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.12772614
149CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.11806430
150CTCF_20526341_ChIP-Seq_ESCs_Human1.11799740
151MYC_18940864_ChIP-ChIP_HL60_Human1.11413501
152POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.10953274
153NCOR_22424771_ChIP-Seq_293T_Human1.10934511
154* GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.10381823
155ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.10064205
156EZH2_27304074_Chip-Seq_ESCs_Mouse1.09816509
157GATA1_26923725_Chip-Seq_HPCs_Mouse1.09606784
158TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.09179713
159TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.09013398
160CBX2_27304074_Chip-Seq_ESCs_Mouse1.08816784
161MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.08094091
162TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.07923357
163E2F1_18555785_Chip-Seq_ESCs_Mouse1.07244109
164STAT3_18555785_Chip-Seq_ESCs_Mouse1.07152416
165STAT1_20625510_ChIP-Seq_HELA_Human1.06718740
166GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.04418819
167CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.04378964
168CRX_20693478_ChIP-Seq_RETINA_Mouse1.04363669
169SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.03949992
170FOXO3_23340844_ChIP-Seq_DLD1_Human1.02492452
171GATA3_21878914_ChIP-Seq_MCF-7_Human1.02057714
172SUZ12_18555785_Chip-Seq_ESCs_Mouse1.01793799
173CMYC_18555785_Chip-Seq_ESCs_Mouse1.01417878
174ESR1_20079471_ChIP-ChIP_T-47D_Human1.01298802
175SOX2_21211035_ChIP-Seq_LN229_Gbm1.00569705
176TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.99311451
177AR_20517297_ChIP-Seq_VCAP_Human0.98995221
178PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.98438147
179SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.98142357
180CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.98118212
181NANOG_20526341_ChIP-Seq_ESCs_Human0.98081749
182NANOG_21062744_ChIP-ChIP_HESCs_Human0.97085834
183TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.96660376
184GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.96563603
185RNF2_27304074_Chip-Seq_ESCs_Mouse0.96099435
186WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.95732640
187EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.95706042
188EST1_17652178_ChIP-ChIP_JURKAT_Human0.95552872
189RXR_22158963_ChIP-Seq_LIVER_Mouse0.95345293
190MYC_22102868_ChIP-Seq_BL_Human0.95328040
191TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.95251508
192CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.94911783
193NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.94640201
194KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.91736601
195TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.91293325
196POU5F1_16153702_ChIP-ChIP_HESCs_Human0.91210456
197SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.91028086

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003283_abnormal_digestive_organ5.62900454
2MP0000569_abnormal_digit_pigmentation4.85183231
3MP0000462_abnormal_digestive_system4.80356102
4MP0003123_paternal_imprinting4.79530699
5MP0003119_abnormal_digestive_system4.01871023
6MP0002653_abnormal_ependyma_morphology3.89652604
7MP0004264_abnormal_extraembryonic_tissu3.86986040
8MP0010234_abnormal_vibrissa_follicle3.62434868
9MP0003195_calcinosis3.39998762
10MP0000372_irregular_coat_pigmentation3.16054740
11MP0009840_abnormal_foam_cell3.13545663
12MP0005174_abnormal_tail_pigmentation3.00842989
13MP0003890_abnormal_embryonic-extraembry2.94312788
14MP0010386_abnormal_urinary_bladder2.81449360
15MP0002938_white_spotting2.75186579
16MP0003122_maternal_imprinting2.74237469
17MP0005075_abnormal_melanosome_morpholog2.46979845
18MP0001666_abnormal_nutrient_absorption2.41556951
19MP0001968_abnormal_touch/_nociception2.37487659
20MP0005220_abnormal_exocrine_pancreas2.27355860
21MP0000015_abnormal_ear_pigmentation2.25303621
22MP0000678_abnormal_parathyroid_gland2.17557562
23MP0000490_abnormal_crypts_of2.17556072
24MP0002102_abnormal_ear_morphology2.13076156
25MP0003693_abnormal_embryo_hatching2.10991668
26MP0005645_abnormal_hypothalamus_physiol2.06550841
27MP0005551_abnormal_eye_electrophysiolog2.03235633
28MP0003136_yellow_coat_color2.03113572
29MP0000537_abnormal_urethra_morphology2.02879447
30MP0002822_catalepsy2.02447415
31MP0008877_abnormal_DNA_methylation2.01309192
32* MP0001944_abnormal_pancreas_morphology2.00019070
33MP0003880_abnormal_central_pattern1.95564113
34MP0002736_abnormal_nociception_after1.94375256
35* MP0002693_abnormal_pancreas_physiology1.94276222
36MP0003329_amyloid_beta_deposits1.92203202
37MP0005381_digestive/alimentary_phenotyp1.84523736
38MP0000013_abnormal_adipose_tissue1.82207591
39MP0008775_abnormal_heart_ventricle1.78914152
40MP0006054_spinal_hemorrhage1.78430788
41MP0002234_abnormal_pharynx_morphology1.71862345
42MP0005084_abnormal_gallbladder_morpholo1.70820711
43MP0001873_stomach_inflammation1.70820374
44MP0005171_absent_coat_pigmentation1.70334158
45MP0003866_abnormal_defecation1.68878170
46MP0009745_abnormal_behavioral_response1.68595836
47MP0002638_abnormal_pupillary_reflex1.68490838
48MP0008004_abnormal_stomach_pH1.66687123
49MP0005360_urolithiasis1.63925799
50MP0004147_increased_porphyrin_level1.63478351
51MP0002733_abnormal_thermal_nociception1.63182087
52MP0001970_abnormal_pain_threshold1.62777477
53MP0001501_abnormal_sleep_pattern1.62372634
54MP0001986_abnormal_taste_sensitivity1.55346690
55MP0004957_abnormal_blastocyst_morpholog1.48455080
56MP0002090_abnormal_vision1.48360295
57MP0008872_abnormal_physiological_respon1.46440301
58MP0002876_abnormal_thyroid_physiology1.45595924
59MP0009046_muscle_twitch1.45171139
60MP0009780_abnormal_chondrocyte_physiolo1.44598352
61MP0001529_abnormal_vocalization1.43114781
62MP0003567_abnormal_fetal_cardiomyocyte1.43034376
63MP0005083_abnormal_biliary_tract1.42481028
64MP0003868_abnormal_feces_composition1.42014597
65MP0000538_abnormal_urinary_bladder1.41873214
66MP0003172_abnormal_lysosome_physiology1.40935854
67MP0002272_abnormal_nervous_system1.39892774
68MP0004381_abnormal_hair_follicle1.38498190
69MP0003879_abnormal_hair_cell1.35610876
70MP0002557_abnormal_social/conspecific_i1.35577835
71MP0001664_abnormal_digestion1.35531474
72MP0010155_abnormal_intestine_physiology1.33197074
73MP0000477_abnormal_intestine_morphology1.33025284
74MP0000470_abnormal_stomach_morphology1.30846812
75MP0000003_abnormal_adipose_tissue1.30689986
76MP0000613_abnormal_salivary_gland1.30359137
77MP0001663_abnormal_digestive_system1.27399774
78MP0002139_abnormal_hepatobiliary_system1.27327429
79MP0003718_maternal_effect1.26407286
80MP0003121_genomic_imprinting1.25541940
81MP0002735_abnormal_chemical_nociception1.25004871
82MP0006276_abnormal_autonomic_nervous1.24704340
83MP0002909_abnormal_adrenal_gland1.24299032
84MP0005646_abnormal_pituitary_gland1.23320311
85MP0004133_heterotaxia1.23138595
86MP0000427_abnormal_hair_cycle1.22494248
87MP0005253_abnormal_eye_physiology1.20398023
88MP0002095_abnormal_skin_pigmentation1.19157795
89MP0004885_abnormal_endolymph1.17291233
90MP0003011_delayed_dark_adaptation1.16711448
91MP0008875_abnormal_xenobiotic_pharmacok1.14982862
92MP0002572_abnormal_emotion/affect_behav1.12258264
93MP0002127_abnormal_cardiovascular_syste1.11282854
94MP0002138_abnormal_hepatobiliary_system1.11174759
95MP0005085_abnormal_gallbladder_physiolo1.10839690
96MP0000631_abnormal_neuroendocrine_gland1.09963362
97MP0005408_hypopigmentation1.08452027
98MP0003300_gastrointestinal_ulcer1.07515042
99MP0008961_abnormal_basal_metabolism1.07354066
100MP0002734_abnormal_mechanical_nocicepti1.07318191
101MP0005636_abnormal_mineral_homeostasis1.06818560
102MP0005367_renal/urinary_system_phenotyp1.06292636
103MP0000516_abnormal_urinary_system1.06292636
104MP0005310_abnormal_salivary_gland1.05072355
105MP0002064_seizures1.04898109
106MP0001486_abnormal_startle_reflex1.04625852
107MP0008058_abnormal_DNA_repair1.02452890
108MP0008932_abnormal_embryonic_tissue1.01276312
109MP0000566_synostosis1.00868703
110MP0003787_abnormal_imprinting1.00739820
111MP0001485_abnormal_pinna_reflex1.00733400
112MP0002084_abnormal_developmental_patter0.99838596
113MP0003183_abnormal_peptide_metabolism0.99705220
114MP0004270_analgesia0.99051701
115MP0001849_ear_inflammation0.97855592
116MP0002163_abnormal_gland_morphology0.97348431
117MP0002063_abnormal_learning/memory/cond0.97282231
118MP0006036_abnormal_mitochondrial_physio0.94094281
119MP0005379_endocrine/exocrine_gland_phen0.93886643
120MP0000604_amyloidosis0.93392911
121MP0004484_altered_response_of0.93251215
122MP0001984_abnormal_olfaction0.92753488
123MP0004185_abnormal_adipocyte_glucose0.91757656
124MP0000049_abnormal_middle_ear0.90710390
125MP0003937_abnormal_limbs/digits/tail_de0.90658168
126MP0003115_abnormal_respiratory_system0.87576092
127MP0004858_abnormal_nervous_system0.84829753
128MP0000230_abnormal_systemic_arterial0.84233343
129MP0004215_abnormal_myocardial_fiber0.83277156
130MP0004233_abnormal_muscle_weight0.83255108
131MP0002277_abnormal_respiratory_mucosa0.82477651
132MP0005410_abnormal_fertilization0.81956161
133MP0004859_abnormal_synaptic_plasticity0.81493133
134MP0006072_abnormal_retinal_apoptosis0.81414686
135MP0002078_abnormal_glucose_homeostasis0.81045673
136MP0003385_abnormal_body_wall0.80676413
137MP0004924_abnormal_behavior0.80126431
138MP0005386_behavior/neurological_phenoty0.80126431
139MP0002229_neurodegeneration0.79760882
140MP0001929_abnormal_gametogenesis0.79457095
141MP0002086_abnormal_extraembryonic_tissu0.79185736
142MP0003941_abnormal_skin_development0.78511033
143MP0002085_abnormal_embryonic_tissue0.77362636
144MP0001502_abnormal_circadian_rhythm0.76965495
145MP0003698_abnormal_male_reproductive0.75956925
146MP0002184_abnormal_innervation0.74962123
147MP0004085_abnormal_heartbeat0.74670785
148MP0002067_abnormal_sensory_capabilities0.73791537
149MP0005257_abnormal_intraocular_pressure0.71109142
150MP0004019_abnormal_vitamin_homeostasis0.70224421
151MP0000371_diluted_coat_color0.69751361
152MP0003935_abnormal_craniofacial_develop0.69613808
153MP0004742_abnormal_vestibular_system0.69586679
154MP0001963_abnormal_hearing_physiology0.69375620
155MP0005395_other_phenotype0.69120377
156MP0002160_abnormal_reproductive_system0.67958112
157MP0005375_adipose_tissue_phenotype0.67435516
158MP0000428_abnormal_craniofacial_morphol0.66998188
159MP0001324_abnormal_eye_pigmentation0.66701775
160MP0001730_embryonic_growth_arrest0.66270351
161MP0001697_abnormal_embryo_size0.66189950
162MP0000762_abnormal_tongue_morphology0.65223401
163MP0003635_abnormal_synaptic_transmissio0.64371976
164MP0003806_abnormal_nucleotide_metabolis0.63022551
165MP0002837_dystrophic_cardiac_calcinosis0.62600251
166MP0010030_abnormal_orbit_morphology0.62304429
167MP0004510_myositis0.62281029
168MP0009672_abnormal_birth_weight0.62127672
169MP0001765_abnormal_ion_homeostasis0.61001825
170MP0001672_abnormal_embryogenesis/_devel0.60875770
171MP0005380_embryogenesis_phenotype0.60875770
172MP0003632_abnormal_nervous_system0.60552635
173MP0003959_abnormal_lean_body0.60217983
174MP0004043_abnormal_pH_regulation0.59969424
175MP0003942_abnormal_urinary_system0.59252647
176MP0002751_abnormal_autonomic_nervous0.55047173
177MP0002098_abnormal_vibrissa_morphology0.54825867
178MP0001727_abnormal_embryo_implantation0.54799610

Predicted human phenotypes

RankGene SetZ-score
1Hypercortisolism (HP:0001578)6.35075261
2Abnormal pancreas size (HP:0012094)5.89971391
3Congenital sensorineural hearing impairment (HP:0008527)5.63837116
4Hyperinsulinemic hypoglycemia (HP:0000825)4.62861924
5Ventricular fibrillation (HP:0001663)4.49000527
6Hypoglycemic coma (HP:0001325)4.46422584
7Posterior subcapsular cataract (HP:0007787)4.32269443
8* Late onset (HP:0003584)4.11355521
9Hypoglycemic seizures (HP:0002173)4.06657401
10Type II lissencephaly (HP:0007260)3.91249880
11Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.85149826
12Albinism (HP:0001022)3.83462392
13Retinal atrophy (HP:0001105)3.64667640
14Symptomatic seizures (HP:0011145)3.63514285
15Hyperparathyroidism (HP:0000843)3.57531507
16Abnormality of aromatic amino acid family metabolism (HP:0004338)3.38657131
17* Ketoacidosis (HP:0001993)3.35363764
18* Abnormality of endocrine pancreas physiology (HP:0012093)3.34518556
19* Abnormality of the pancreatic islet cells (HP:0006476)3.34518556
20Ankyloglossia (HP:0010296)3.29704286
21Hemiparesis (HP:0001269)3.28221605
22Congenital stationary night blindness (HP:0007642)3.17658165
23Pancreatic cysts (HP:0001737)3.17459857
24Abdominal distention (HP:0003270)3.15321774
25Adrenal overactivity (HP:0002717)3.06445542
26Exocrine pancreatic insufficiency (HP:0001738)3.04807320
27Intestinal atresia (HP:0011100)3.02160482
28Conjugated hyperbilirubinemia (HP:0002908)3.01246615
29Retinal dysplasia (HP:0007973)2.95856444
30Attenuation of retinal blood vessels (HP:0007843)2.91937242
31Pheochromocytoma (HP:0002666)2.85764224
32Pancreatic fibrosis (HP:0100732)2.78355354
33Hyperglycemia (HP:0003074)2.77296570
34Micronodular cirrhosis (HP:0001413)2.71866167
35* Insulin resistance (HP:0000855)2.71276036
36Inability to walk (HP:0002540)2.65618908
37True hermaphroditism (HP:0010459)2.64256659
38Cerebellar dysplasia (HP:0007033)2.63762609
39Abnormality of small intestinal villus morphology (HP:0011472)2.63191703
40Villous atrophy (HP:0011473)2.63191703
41Increased muscle lipid content (HP:0009058)2.61136821
42Pancreatic islet-cell hyperplasia (HP:0004510)2.60890097
43Hip dysplasia (HP:0001385)2.59585504
44Back pain (HP:0003418)2.59245905
45Restlessness (HP:0000711)2.55658761
46Agitation (HP:0000713)2.54311863
47Ileus (HP:0002595)2.53528334
48Abnormality of oral frenula (HP:0000190)2.51653613
49Lissencephaly (HP:0001339)2.51106694
50Febrile seizures (HP:0002373)2.50260249
51Syncope (HP:0001279)2.47637933
52Progressive inability to walk (HP:0002505)2.47100290
53Neuroendocrine neoplasm (HP:0100634)2.47032209
54Severe short stature (HP:0003510)2.45569475
55Abnormal rod and cone electroretinograms (HP:0008323)2.45290427
56White forelock (HP:0002211)2.45121580
57Fair hair (HP:0002286)2.44384532
58Increased CSF lactate (HP:0002490)2.43855241
59Chorioretinal atrophy (HP:0000533)2.43766091
60Severe visual impairment (HP:0001141)2.42890921
61Abnormality of the renal cortex (HP:0011035)2.39706258
62Right ventricular cardiomyopathy (HP:0011663)2.39115457
63Trismus (HP:0000211)2.38724193
64Progressive macrocephaly (HP:0004481)2.37588440
65Abnormality of the gastric mucosa (HP:0004295)2.37252667
66Progressive microcephaly (HP:0000253)2.34964133
67Nephronophthisis (HP:0000090)2.33904004
68Hypoplastic pelvis (HP:0008839)2.33680116
69Stomach cancer (HP:0012126)2.33023683
70Hyperglycinemia (HP:0002154)2.30440246
71Insulin-resistant diabetes mellitus (HP:0000831)2.28511060
72Acute necrotizing encephalopathy (HP:0006965)2.27164934
73Broad-based gait (HP:0002136)2.27013515
74Absent speech (HP:0001344)2.26002637
75Focal motor seizures (HP:0011153)2.25617045
76Lipid accumulation in hepatocytes (HP:0006561)2.20999211
77Shawl scrotum (HP:0000049)2.20806296
78Gaze-evoked nystagmus (HP:0000640)2.20669371
79Medial flaring of the eyebrow (HP:0010747)2.19661963
80Pachygyria (HP:0001302)2.18567077
81Microretrognathia (HP:0000308)2.17330613
82Glycosuria (HP:0003076)2.16748825
83Abnormality of urine glucose concentration (HP:0011016)2.16748825
84Renal cortical cysts (HP:0000803)2.16581926
85Abnormality of calcium-phosphate metabolism (HP:0100530)2.16120717
86Curly hair (HP:0002212)2.15605201
87Deep palmar crease (HP:0006191)2.15043191
88Epileptiform EEG discharges (HP:0011182)2.14944916
89EEG with generalized epileptiform discharges (HP:0011198)2.14712988
90Retrobulbar optic neuritis (HP:0100654)2.14406153
91Optic neuritis (HP:0100653)2.14406153
92Abnormality of midbrain morphology (HP:0002418)2.12443025
93Molar tooth sign on MRI (HP:0002419)2.12443025
94Hypsarrhythmia (HP:0002521)2.12276943
95Patchy hypopigmentation of hair (HP:0011365)2.11632729
96Chronic hepatic failure (HP:0100626)2.11616372
97Aplasia/Hypoplasia of the fovea (HP:0008060)2.09672198
98Hypoplasia of the fovea (HP:0007750)2.09672198
99Polyphagia (HP:0002591)2.09246458
100Increased intramyocellular lipid droplets (HP:0012240)2.08602232
101Hepatic necrosis (HP:0002605)2.08518594
102Breast aplasia (HP:0100783)2.07632530
103Cerebral inclusion bodies (HP:0100314)2.07587658
104Aplasia/Hypoplasia of the breasts (HP:0010311)2.06585073
105Flared iliac wings (HP:0002869)2.06118909
106Long palpebral fissure (HP:0000637)2.04352738
107Abnormality of the renal medulla (HP:0100957)2.04307034
108Prolonged QT interval (HP:0001657)2.03597157
109Absent eyelashes (HP:0000561)2.02252364
110Cystic liver disease (HP:0006706)2.00928396
111Athetosis (HP:0002305)2.00822678
112Tubular atrophy (HP:0000092)1.98272486
113Ependymoma (HP:0002888)1.96864451
114Pili torti (HP:0003777)1.95042471
115Decreased electroretinogram (ERG) amplitude (HP:0000654)1.94288140
116Hyperglycinuria (HP:0003108)1.94042788
117Pendular nystagmus (HP:0012043)1.93820463
118Hyperphosphaturia (HP:0003109)1.93814358
119Gout (HP:0001997)1.93782091
120Aplasia/hypoplasia of the uterus (HP:0008684)1.92698867
121Long toe (HP:0010511)1.89457408
122Congenital glaucoma (HP:0001087)1.88319408
123Abnormality of glycine metabolism (HP:0010895)1.88071891
124Abnormality of serine family amino acid metabolism (HP:0010894)1.88071891
125Limb hypertonia (HP:0002509)1.86964621
126Prostate neoplasm (HP:0100787)1.86188595
127Type I diabetes mellitus (HP:0100651)1.85754781
128Uterine neoplasm (HP:0010784)1.85353403
129Bony spicule pigmentary retinopathy (HP:0007737)1.84371035
130Oligodactyly (hands) (HP:0001180)1.83591395
131Abnormality of macular pigmentation (HP:0008002)1.83335808
132Partial agenesis of the corpus callosum (HP:0001338)1.82597329
133Generalized hypopigmentation of hair (HP:0011358)1.81806240
134Abolished electroretinogram (ERG) (HP:0000550)1.81339032
135Abnormality of the prostate (HP:0008775)1.80964645
136Confusion (HP:0001289)1.80493446
137Hyperventilation (HP:0002883)1.80328301
138Tubulointerstitial abnormality (HP:0001969)1.79836026
139Abnormality of B cell number (HP:0010975)1.79820940
140Dialeptic seizures (HP:0011146)1.78745072
141Thickened helices (HP:0000391)1.78069707
142Neoplasm of the peripheral nervous system (HP:0100007)1.77935069
143Rib fusion (HP:0000902)1.77579903
144Optic nerve hypoplasia (HP:0000609)1.76179892
145Hepatoblastoma (HP:0002884)1.75404084
146Tubulointerstitial nephritis (HP:0001970)1.75313720
147Abnormal drinking behavior (HP:0030082)1.75175282
148Polydipsia (HP:0001959)1.75175282
149Optic disc pallor (HP:0000543)1.75072668
150Generalized hypopigmentation (HP:0007513)1.74790635
151Intrahepatic cholestasis (HP:0001406)1.74608606
152Hemiplegia (HP:0002301)1.74585004
153Neurofibrillary tangles (HP:0002185)1.73263657
154Acute encephalopathy (HP:0006846)1.73149977
155Gait imbalance (HP:0002141)1.72352831
156Keratoconus (HP:0000563)1.72291196
157Increased corneal curvature (HP:0100692)1.72291196
158Hypoproteinemia (HP:0003075)1.72040397
159Subcapsular cataract (HP:0000523)1.71481574
160Aplasia/Hypoplasia involving the musculature (HP:0001460)1.71304938
161Macular degeneration (HP:0000608)1.70661695
162* Ketosis (HP:0001946)1.70571549
163Male infertility (HP:0003251)1.70451511
164Postural tremor (HP:0002174)1.70303651
165Cerebral hemorrhage (HP:0001342)1.70182551
166Thyroid-stimulating hormone excess (HP:0002925)1.69992882
167Widely spaced teeth (HP:0000687)1.69703664
168Progressive neurologic deterioration (HP:0002344)1.69421224
169Congenital primary aphakia (HP:0007707)1.69306783
170Thin bony cortex (HP:0002753)1.69021284
171Prolonged neonatal jaundice (HP:0006579)1.68910510
172Bulbous nose (HP:0000414)1.68871898
173Colon cancer (HP:0003003)1.68373181
174Growth hormone excess (HP:0000845)1.67298654
175Abnormality of the labia minora (HP:0012880)1.67053443
176Nephrogenic diabetes insipidus (HP:0009806)1.66629321
177Hypoplasia of the pons (HP:0012110)1.66498789
178Severe muscular hypotonia (HP:0006829)1.66130430
179Abnormality of the fovea (HP:0000493)1.65431398
180Anosmia (HP:0000458)1.65317375
181Erectile abnormalities (HP:0100639)1.65245848
182Emotional lability (HP:0000712)1.64953964
183Large for gestational age (HP:0001520)1.62027550
184Abnormal mitochondria in muscle tissue (HP:0008316)1.60513270
185Thoracolumbar scoliosis (HP:0002944)1.58057974
186Abnormality of abdominal situs (HP:0011620)1.57677114
187Abdominal situs inversus (HP:0003363)1.57677114
188Neoplasm of the adrenal gland (HP:0100631)1.57581823
189Mitochondrial inheritance (HP:0001427)1.56537968
190Hereditary nonpolyposis colorectal carcinoma (HP:0006716)1.54986782
191Abnormal urine phosphate concentration (HP:0012599)1.54883229
192Peripheral primitive neuroectodermal neoplasm (HP:0030067)1.53491592

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PASK4.25918839
2MAP4K24.20933955
3LATS24.15164311
4KSR23.87536988
5BMPR1B3.71213228
6ADRBK23.66610528
7FRK3.50085743
8ERN13.01637772
9MAP3K93.00303033
10ARAF2.99607143
11MAP3K42.95840954
12MAP3K22.83850051
13MAP3K132.60376906
14MAP2K22.45149115
15PRKD32.29144709
16TAOK12.24821895
17MAPK132.23906821
18RAF12.16524891
19TRIM282.03493482
20HIPK22.03166163
21MAP3K122.00916117
22BRAF1.99428471
23MAP2K71.84622500
24IRAK11.78008123
25NME11.76789718
26PAK41.76107819
27PRKD21.74707994
28PTK21.71079601
29WNK31.70663802
30PAK61.70068598
31TGFBR21.66106754
32GRK11.64586459
33MAP3K111.64163002
34MAP3K61.63459431
35MAPK151.53029984
36TRIB31.52360928
37MAP3K101.47922117
38MAP2K11.47756229
39CASK1.47358022
40TNIK1.46784497
41RIPK11.45110670
42ACVR1B1.43244820
43MAP2K61.39762112
44MKNK21.39423522
45KSR11.38148661
46MARK11.37014543
47PINK11.36352299
48ERBB41.36296315
49PKN21.35099271
50AKT31.27851276
51ZAK1.25745853
52EIF2AK11.25320350
53PLK21.24389903
54OXSR11.22186014
55MST1R1.19528010
56EPHA41.18538571
57NUAK11.17923544
58PIM21.16593484
59PRKG21.16564901
60FER1.14659740
61DYRK1B1.12901668
62DYRK21.11393703
63LMTK21.10611812
64MAP3K11.08442389
65PHKG11.06415799
66PHKG21.06415799
67STK391.03999398
68SCYL21.03912018
69RPS6KA41.02965182
70MAP3K81.02898839
71CDK81.02217118
72PRKCE1.01386834
73STK38L1.01194635
74PRKCI0.97829044
75RET0.97821052
76MST40.97603021
77PRKCG0.94043007
78ITK0.92820606
79DAPK20.91903482
80MET0.91489745
81ABL20.90644587
82GRK50.89821737
83TAOK30.89207468
84ERBB30.88621894
85TTK0.88412898
86TIE10.88043294
87STK160.87715859
88NTRK30.87238549
89MUSK0.86122314
90INSRR0.85249702
91TESK10.83295997
92CSNK1G10.81428239
93PTK60.81267114
94MAP2K40.81029224
95CCNB10.79982540
96GRK70.79927929
97WNK40.79062661
98MAP3K50.78816305
99CDK140.78759179
100TXK0.77756024
101TEC0.76731306
102DAPK10.76388531
103CDK150.75527329
104ADRBK10.75419329
105CHEK20.75129083
106CDK11A0.72168608
107CDK180.69763164
108NTRK20.69310860
109PAK30.67598240
110TLK10.67583713
111FGFR20.64982318
112CAMK2A0.64004516
113SGK20.62405598
114PAK10.61257760
115MARK30.60741347
116TNK20.60580354
117PTK2B0.58907160
118MAP3K30.58777430
119EPHA20.57009018
120BCKDK0.56679693
121CSNK1G30.55360027
122ILK0.53200977
123EEF2K0.52288085
124LATS10.50774659
125BUB10.50723326
126PLK40.50518733
127EPHA30.49713074
128FGR0.49594408
129MKNK10.49546593
130MINK10.49376480
131RIPK40.48467493
132CAMK2B0.48322532
133VRK10.47240502
134GRK60.46849115
135CSNK1D0.46436828
136NTRK10.45921197
137CHUK0.44693043
138CDK50.42549185
139CSNK1A10.42440537
140DYRK30.41457995
141PRKD10.40805193
142CSNK1E0.40515755
143PRKACA0.39261505
144NLK0.38711507
145CSNK1A1L0.38497447
146IGF1R0.38169571
147MARK20.37784105
148CDK60.35857849
149CDK90.35253581
150CDK190.34846985
151UHMK10.33693489
152ABL10.33392990
153CAMKK10.33358490
154BCR0.33085068
155DMPK0.31796208
156PRKCA0.31193273
157TYRO30.30975711
158VRK20.29997500
159CAMK2D0.29849718
160TGFBR10.29732619
161AURKB0.29246421
162PDPK10.29217523
163ATM0.29143968
164STK380.29048315
165PRKG10.28955313
166CLK10.28494936
167CSNK1G20.28380739
168SGK2230.27140070
169SGK4940.27140070

Predicted pathways (KEGG)

RankGene SetZ-score
1* Maturity onset diabetes of the young_Homo sapiens_hsa049507.76857705
2Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.71608417
3Fat digestion and absorption_Homo sapiens_hsa049752.80982538
4Butanoate metabolism_Homo sapiens_hsa006502.56328191
5Phototransduction_Homo sapiens_hsa047442.55242379
6Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.49749699
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.45124789
8Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.44592967
9Nicotine addiction_Homo sapiens_hsa050332.33125526
10Protein export_Homo sapiens_hsa030602.31052809
11Pancreatic secretion_Homo sapiens_hsa049722.27282946
12Histidine metabolism_Homo sapiens_hsa003402.27034879
13Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.22852187
14Fatty acid biosynthesis_Homo sapiens_hsa000612.18969387
15Insulin secretion_Homo sapiens_hsa049112.18309797
16Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.16121826
17Oxidative phosphorylation_Homo sapiens_hsa001902.12559141
18Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.97360360
19RNA polymerase_Homo sapiens_hsa030201.87776826
20Collecting duct acid secretion_Homo sapiens_hsa049661.85614860
21Vibrio cholerae infection_Homo sapiens_hsa051101.80946055
22Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.72482822
23Ether lipid metabolism_Homo sapiens_hsa005651.72379106
24Alzheimers disease_Homo sapiens_hsa050101.70568150
25Fatty acid elongation_Homo sapiens_hsa000621.68238756
26Sulfur metabolism_Homo sapiens_hsa009201.67812741
27Parkinsons disease_Homo sapiens_hsa050121.66968467
28Fatty acid metabolism_Homo sapiens_hsa012121.60653760
29Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.54685280
30Propanoate metabolism_Homo sapiens_hsa006401.53079792
31Bladder cancer_Homo sapiens_hsa052191.52852304
32Folate biosynthesis_Homo sapiens_hsa007901.50612271
33Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.48910730
34Sphingolipid metabolism_Homo sapiens_hsa006001.48261210
35Arginine and proline metabolism_Homo sapiens_hsa003301.43976537
36Morphine addiction_Homo sapiens_hsa050321.41591599
37Pentose and glucuronate interconversions_Homo sapiens_hsa000401.40733945
38Cocaine addiction_Homo sapiens_hsa050301.39297421
39Regulation of autophagy_Homo sapiens_hsa041401.38959229
40Tryptophan metabolism_Homo sapiens_hsa003801.37698255
41Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.37189009
42Long-term potentiation_Homo sapiens_hsa047201.36223449
43Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.35534521
44Pyruvate metabolism_Homo sapiens_hsa006201.35137996
45Huntingtons disease_Homo sapiens_hsa050161.28524185
46Fatty acid degradation_Homo sapiens_hsa000711.27078895
47Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.26737619
48Taste transduction_Homo sapiens_hsa047421.24947654
49Steroid biosynthesis_Homo sapiens_hsa001001.22299846
50Basal transcription factors_Homo sapiens_hsa030221.18420447
51Olfactory transduction_Homo sapiens_hsa047401.12246368
52Thyroid cancer_Homo sapiens_hsa052161.12229281
53Protein digestion and absorption_Homo sapiens_hsa049741.11266854
54Nitrogen metabolism_Homo sapiens_hsa009101.08760382
55GABAergic synapse_Homo sapiens_hsa047271.06602206
56Type II diabetes mellitus_Homo sapiens_hsa049301.04971265
57Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.03993703
58Cyanoamino acid metabolism_Homo sapiens_hsa004601.02748434
59Amphetamine addiction_Homo sapiens_hsa050311.02608177
60Peroxisome_Homo sapiens_hsa041461.02229771
61Serotonergic synapse_Homo sapiens_hsa047261.00323775
62Tight junction_Homo sapiens_hsa045300.99539076
63Glutamatergic synapse_Homo sapiens_hsa047240.97606741
64Long-term depression_Homo sapiens_hsa047300.96868306
65GnRH signaling pathway_Homo sapiens_hsa049120.96582881
66Dorso-ventral axis formation_Homo sapiens_hsa043200.96543768
67Proteasome_Homo sapiens_hsa030500.96233225
68Thyroid hormone synthesis_Homo sapiens_hsa049180.96127624
69Estrogen signaling pathway_Homo sapiens_hsa049150.95711005
70Glycerolipid metabolism_Homo sapiens_hsa005610.94827760
71Fanconi anemia pathway_Homo sapiens_hsa034600.92503175
72Arachidonic acid metabolism_Homo sapiens_hsa005900.88301775
73Steroid hormone biosynthesis_Homo sapiens_hsa001400.86789203
74Starch and sucrose metabolism_Homo sapiens_hsa005000.83795625
75One carbon pool by folate_Homo sapiens_hsa006700.81597884
76Dopaminergic synapse_Homo sapiens_hsa047280.81497091
77Cholinergic synapse_Homo sapiens_hsa047250.80879715
78Selenocompound metabolism_Homo sapiens_hsa004500.80784539
79Galactose metabolism_Homo sapiens_hsa000520.80206395
80Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.79508299
81Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.77628465
82Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.76848839
83Circadian rhythm_Homo sapiens_hsa047100.74625708
84Primary immunodeficiency_Homo sapiens_hsa053400.74507571
85Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.73693964
86Fructose and mannose metabolism_Homo sapiens_hsa000510.73429204
87Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.72240357
88Glycosaminoglycan degradation_Homo sapiens_hsa005310.71305090
89RNA degradation_Homo sapiens_hsa030180.70425272
90Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.69863307
91Intestinal immune network for IgA production_Homo sapiens_hsa046720.69255339
92Carbohydrate digestion and absorption_Homo sapiens_hsa049730.68682665
93Circadian entrainment_Homo sapiens_hsa047130.67481850
94Cell cycle_Homo sapiens_hsa041100.66981921
95Synaptic vesicle cycle_Homo sapiens_hsa047210.65852116
96Asthma_Homo sapiens_hsa053100.65361537
97Metabolic pathways_Homo sapiens_hsa011000.65308988
98Primary bile acid biosynthesis_Homo sapiens_hsa001200.65009444
99Purine metabolism_Homo sapiens_hsa002300.64756080
100Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.64753465
101N-Glycan biosynthesis_Homo sapiens_hsa005100.64443584
102Cardiac muscle contraction_Homo sapiens_hsa042600.63348229
103Prion diseases_Homo sapiens_hsa050200.62031983
104VEGF signaling pathway_Homo sapiens_hsa043700.61448846
105Gastric acid secretion_Homo sapiens_hsa049710.60496745
106Melanoma_Homo sapiens_hsa052180.59554172
107Shigellosis_Homo sapiens_hsa051310.57867973
108Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.57582236
109Salivary secretion_Homo sapiens_hsa049700.56922095
110Hepatitis C_Homo sapiens_hsa051600.56671183
111alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.56540162
112Glycerophospholipid metabolism_Homo sapiens_hsa005640.56149908
113Caffeine metabolism_Homo sapiens_hsa002320.56062618
114Mineral absorption_Homo sapiens_hsa049780.55842762
115Gap junction_Homo sapiens_hsa045400.55787761
116ABC transporters_Homo sapiens_hsa020100.55548090
117Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.55324105
118Chemical carcinogenesis_Homo sapiens_hsa052040.55269976
119Base excision repair_Homo sapiens_hsa034100.53558971
120Ovarian steroidogenesis_Homo sapiens_hsa049130.51449498
121beta-Alanine metabolism_Homo sapiens_hsa004100.50858677
122Lysine degradation_Homo sapiens_hsa003100.50797630
123Aldosterone synthesis and secretion_Homo sapiens_hsa049250.49853429
124Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.49665866
125Homologous recombination_Homo sapiens_hsa034400.48892201
126Melanogenesis_Homo sapiens_hsa049160.48772499
127Glutathione metabolism_Homo sapiens_hsa004800.47949923
128Linoleic acid metabolism_Homo sapiens_hsa005910.47801648
129Renin secretion_Homo sapiens_hsa049240.47303314
130Other glycan degradation_Homo sapiens_hsa005110.46121290
131Vascular smooth muscle contraction_Homo sapiens_hsa042700.45301753
132Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.44681193
133Calcium signaling pathway_Homo sapiens_hsa040200.43153390
134TNF signaling pathway_Homo sapiens_hsa046680.42986392
135Cysteine and methionine metabolism_Homo sapiens_hsa002700.42911022
136Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.42739330
137Colorectal cancer_Homo sapiens_hsa052100.42709795
138Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.42551402
139Renal cell carcinoma_Homo sapiens_hsa052110.41097236
140Renin-angiotensin system_Homo sapiens_hsa046140.41004603
141Adherens junction_Homo sapiens_hsa045200.39778345
142Oocyte meiosis_Homo sapiens_hsa041140.39446225
143Leukocyte transendothelial migration_Homo sapiens_hsa046700.38883376
144Endometrial cancer_Homo sapiens_hsa052130.38614656
145Autoimmune thyroid disease_Homo sapiens_hsa053200.37778620
146Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.37058612
147Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.36040931
148Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.36037590
149Prolactin signaling pathway_Homo sapiens_hsa049170.35906047
150Rheumatoid arthritis_Homo sapiens_hsa053230.35541361
151TGF-beta signaling pathway_Homo sapiens_hsa043500.35289917
152Non-homologous end-joining_Homo sapiens_hsa034500.34896109
153Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.34869765
154Type I diabetes mellitus_Homo sapiens_hsa049400.30974166
155African trypanosomiasis_Homo sapiens_hsa051430.29093924
156Rap1 signaling pathway_Homo sapiens_hsa040150.28430663
157Arginine biosynthesis_Homo sapiens_hsa002200.27226546
1582-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.27035120
159NOD-like receptor signaling pathway_Homo sapiens_hsa046210.26392871
160cGMP-PKG signaling pathway_Homo sapiens_hsa040220.25841091
161Carbon metabolism_Homo sapiens_hsa012000.25590755
162Glioma_Homo sapiens_hsa052140.25585771
163Hippo signaling pathway_Homo sapiens_hsa043900.24922769
164Pancreatic cancer_Homo sapiens_hsa052120.22903990
165Retinol metabolism_Homo sapiens_hsa008300.21988089

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