CLDN9

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





Description: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This protein is one of the entry cofactors for hepatitis C virus. Mouse studies revealed that this gene is required for the preservation of sensory cells in the hearing organ and the gene deficiency is associated with deafness. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1auditory receptor cell differentiation (GO:0042491)9.59653538
2sensory perception of smell (GO:0007608)7.60122554
3inner ear receptor cell differentiation (GO:0060113)7.48644702
4glucuronate metabolic process (GO:0019585)7.19161312
5uronic acid metabolic process (GO:0006063)7.19161312
6cellular glucuronidation (GO:0052695)6.68574931
7pentose metabolic process (GO:0019321)6.14089579
8mechanoreceptor differentiation (GO:0042490)6.05067951
9protein insertion into membrane (GO:0051205)6.01506325
10regulation of chromatin binding (GO:0035561)6.00312225
11sensory perception of chemical stimulus (GO:0007606)5.69636968
12hair cell differentiation (GO:0035315)5.52937721
13antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.47930803
14metanephric mesenchyme development (GO:0072075)5.41836136
15antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.32550651
16neutrophil activation involved in immune response (GO:0002283)5.32294969
17negative regulation of cell killing (GO:0031342)5.27403198
18negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.27403198
19positive regulation by symbiont of host defense response (GO:0052509)5.26778012
20modulation by symbiont of host defense response (GO:0052031)5.26778012
21modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.26778012
22modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.26778012
23positive regulation by organism of defense response of other organism involved in symbiotic interact5.26778012
24modulation by symbiont of host immune response (GO:0052553)5.26778012
25modulation by virus of host process (GO:0019054)5.22226522
26regulation of secondary heart field cardioblast proliferation (GO:0003266)5.04744898
27regulation of cardioblast proliferation (GO:0003264)5.04744898
28glomerulus development (GO:0032835)4.99205364
29* calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)4.94598607
30kidney mesenchyme development (GO:0072074)4.88855810
31response to peptidoglycan (GO:0032494)4.88357130
32antigen processing and presentation of endogenous antigen (GO:0019883)4.84783694
33detection of bacterium (GO:0016045)4.76093369
34detection of other organism (GO:0098543)4.75512630
35cell differentiation involved in metanephros development (GO:0072202)4.74797936
36antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.74614653
37regulation of female gonad development (GO:2000194)4.72677463
38adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)4.67646741
39positive regulation of Cdc42 GTPase activity (GO:0043089)4.55786759
40outer ear morphogenesis (GO:0042473)4.54867442
41regulation of somitogenesis (GO:0014807)4.51878381
42hepatocyte apoptotic process (GO:0097284)4.49843120
43bone remodeling (GO:0046849)4.48448122
44phosphorelay signal transduction system (GO:0000160)4.42800935
45neutrophil activation (GO:0042119)4.38419799
46aorta morphogenesis (GO:0035909)4.37209122
47macrophage activation involved in immune response (GO:0002281)4.33141222
48protein polyglutamylation (GO:0018095)4.24294285
49regulation of chemokine secretion (GO:0090196)4.19874756
50regulation of interferon-beta biosynthetic process (GO:0045357)4.16478789
51leukocyte aggregation (GO:0070486)4.12230102
52detection of calcium ion (GO:0005513)4.08739591
53sequestering of actin monomers (GO:0042989)4.01399638
54leukocyte migration involved in inflammatory response (GO:0002523)4.00012913
55cellular response to prostaglandin stimulus (GO:0071379)3.97673432
56facial nerve structural organization (GO:0021612)3.96648165
57detection of external biotic stimulus (GO:0098581)3.96159472
58mesenchyme morphogenesis (GO:0072132)3.94377076
59endocardial cushion morphogenesis (GO:0003203)3.93947272
60granulocyte activation (GO:0036230)3.93651097
61Notch signaling involved in heart development (GO:0061314)3.93145621
62respiratory burst (GO:0045730)3.91719585
63negative regulation of transcription regulatory region DNA binding (GO:2000678)3.88095666
64myoblast migration (GO:0051451)3.86043240
65negative regulation of lymphocyte mediated immunity (GO:0002707)3.84851655
66pharyngeal system development (GO:0060037)3.80628592
67negative regulation of catenin import into nucleus (GO:0035414)3.80384648
68modulation by symbiont of host cellular process (GO:0044068)3.78881577
69sensory perception of taste (GO:0050909)3.77483422
70phenylpropanoid metabolic process (GO:0009698)3.74709272
71regulation of T-helper 2 cell differentiation (GO:0045628)3.71438724
72inner ear morphogenesis (GO:0042472)3.70805200
73nephron tubule morphogenesis (GO:0072078)3.68523049
74nephron epithelium morphogenesis (GO:0072088)3.68523049
75negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.66825170
76response to nitrosative stress (GO:0051409)3.63399933
77iron ion import (GO:0097286)3.61686498
78production of molecular mediator involved in inflammatory response (GO:0002532)3.61368124
79olfactory bulb development (GO:0021772)3.59415252
80positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)3.58285917
81response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.55385034
82response to host immune response (GO:0052572)3.55385034
83response to host (GO:0075136)3.53375280
84response to host defenses (GO:0052200)3.53375280
85response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.53375280
86detection of molecule of bacterial origin (GO:0032490)3.53138078
87regulation of mast cell degranulation (GO:0043304)3.52802370
88germinal center formation (GO:0002467)3.51568072
89xenobiotic catabolic process (GO:0042178)3.51330981
90amyloid precursor protein catabolic process (GO:0042987)3.51200539
91intraciliary transport (GO:0042073)3.50248598
92response to interleukin-15 (GO:0070672)3.49664014
93sensory perception of mechanical stimulus (GO:0050954)3.48142081
94sensory perception of sound (GO:0007605)3.47802351
95positive regulation of gamma-delta T cell activation (GO:0046645)3.47080494
96positive regulation of mesonephros development (GO:0061213)3.43605519
97regulation of myeloid leukocyte mediated immunity (GO:0002886)3.41497148
98positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.40159669
99neuronal stem cell maintenance (GO:0097150)3.39758872
100middle ear morphogenesis (GO:0042474)3.35559227
101endocrine hormone secretion (GO:0060986)3.34718173
102regulation of leukocyte degranulation (GO:0043300)3.33674006
103adipose tissue development (GO:0060612)3.33014423
104male genitalia development (GO:0030539)3.33003218
105negative regulation of phagocytosis (GO:0050765)3.32625809
106axoneme assembly (GO:0035082)3.32372234
107positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.31907409
108negative regulation of leukocyte mediated immunity (GO:0002704)3.31280455
109negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.31017655
110detection of biotic stimulus (GO:0009595)3.29044153
111generation of neurons (GO:0048699)3.27998185
112regulation of B cell receptor signaling pathway (GO:0050855)3.27939412
113regulation of branching involved in ureteric bud morphogenesis (GO:0090189)3.27893265
114cellular response to interleukin-15 (GO:0071350)3.24510985
115protein localization to cilium (GO:0061512)3.21623965
116positive regulation of Notch signaling pathway (GO:0045747)3.21582291
117negative regulation of erythrocyte differentiation (GO:0045647)3.20450553
118positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.19483459
119regulation of mesonephros development (GO:0061217)3.19208849
120neutrophil mediated immunity (GO:0002446)3.19070263
121oligosaccharide catabolic process (GO:0009313)3.14671865
122cranial nerve structural organization (GO:0021604)3.13735698
123response to type I interferon (GO:0034340)3.13429170
124regulation of mast cell activation involved in immune response (GO:0033006)3.12276715
125regulation of regulated secretory pathway (GO:1903305)3.12064267
126cellular response to type I interferon (GO:0071357)3.11631737
127type I interferon signaling pathway (GO:0060337)3.11631737
128negative regulation of fatty acid transport (GO:2000192)3.09688832
129myeloid cell activation involved in immune response (GO:0002275)3.08152956
130metanephros development (GO:0001656)3.07711333
131cellular extravasation (GO:0045123)3.07043027
132tolerance induction (GO:0002507)3.07027587
133neurofilament cytoskeleton organization (GO:0060052)3.06789373
134macrophage activation (GO:0042116)3.06756708
135negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)3.05739616
136negative regulation of execution phase of apoptosis (GO:1900118)3.03108479
137cellular response to virus (GO:0098586)3.00407065
138endothelial cell differentiation (GO:0045446)2.99511725
139leukocyte degranulation (GO:0043299)2.98870111
140interferon-gamma secretion (GO:0072643)2.98809093
141positive regulation of chemokine secretion (GO:0090197)2.96414519
142snRNA transcription (GO:0009301)2.95984883
143cellular copper ion homeostasis (GO:0006878)2.95972066
144immunoglobulin mediated immune response (GO:0016064)2.95685713
145neuronal action potential (GO:0019228)2.94804558
146negative regulation of interleukin-6 production (GO:0032715)2.94454294
147negative regulation of toll-like receptor signaling pathway (GO:0034122)2.94274983
148negative regulation of glycoprotein biosynthetic process (GO:0010561)2.94114364
149type B pancreatic cell proliferation (GO:0044342)2.93858453
150regulation of gamma-delta T cell activation (GO:0046643)2.92343658
151peptidyl-tyrosine autophosphorylation (GO:0038083)2.89876729
152oxygen transport (GO:0015671)2.89309437
153ganglion development (GO:0061548)2.88327411
154activation of Rac GTPase activity (GO:0032863)2.86932442
155positive regulation of regulated secretory pathway (GO:1903307)2.86647483
156pentose-phosphate shunt (GO:0006098)2.86104059
157epithelial cell differentiation involved in prostate gland development (GO:0060742)2.84997054
158DNA damage response, detection of DNA damage (GO:0042769)2.84426243
159nucleotide transmembrane transport (GO:1901679)2.82771662
160regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.82547936
161citrulline biosynthetic process (GO:0019240)2.82074563
162Notch receptor processing (GO:0007220)2.81586306
163ovulation cycle (GO:0042698)2.81524196
164negative regulation of interleukin-12 production (GO:0032695)2.80397283
165negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)2.80043154
166regulation of cholesterol biosynthetic process (GO:0045540)2.79930753
167reproductive system development (GO:0061458)2.79108110
168amyloid precursor protein metabolic process (GO:0042982)2.77926653
169heart valve morphogenesis (GO:0003179)2.77287110
170negative regulation of B cell mediated immunity (GO:0002713)2.74581871
171negative regulation of immunoglobulin mediated immune response (GO:0002890)2.74581871
172hydrogen peroxide biosynthetic process (GO:0050665)2.74173743
173cell differentiation involved in kidney development (GO:0061005)2.73252740
174peristalsis (GO:0030432)2.72938179
175neuron fate specification (GO:0048665)2.72602414
176connective tissue development (GO:0061448)2.72427419
177lipopolysaccharide-mediated signaling pathway (GO:0031663)2.71834638
178regulation of telomere maintenance via telomerase (GO:0032210)2.71285140
179negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.70494250
180negative regulation of T-helper cell differentiation (GO:0045623)2.70494250
181regulation of interleukin-13 production (GO:0032656)2.69991933
182positive regulation of hormone biosynthetic process (GO:0046886)2.69524007
183positive regulation of T cell mediated cytotoxicity (GO:0001916)2.68040028
184response to muramyl dipeptide (GO:0032495)2.66472708
185response to interferon-alpha (GO:0035455)2.66190762
186regulation of ARF GTPase activity (GO:0032312)2.65964916
187centriole replication (GO:0007099)2.65459941
188diterpenoid biosynthetic process (GO:0016102)2.65053103
189regulation of Cdc42 GTPase activity (GO:0043088)2.64882812
190positive regulation of actin cytoskeleton reorganization (GO:2000251)2.63972484
191gas transport (GO:0015669)2.63626033
192negative regulation of type 2 immune response (GO:0002829)2.62377598
193positive regulation of cellular amide metabolic process (GO:0034250)2.59771817
194positive regulation of mast cell activation (GO:0033005)2.59470746
195regulation of gamma-delta T cell differentiation (GO:0045586)2.59109274
196negative regulation of interleukin-8 production (GO:0032717)2.58659150
197signal complex assembly (GO:0007172)2.57355000
198regulation of tolerance induction (GO:0002643)2.57254875

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat8.91576499
2EZH2_22144423_ChIP-Seq_EOC_Human4.50788566
3BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.22346162
4TRIM28_21343339_ChIP-Seq_HEK293_Human3.20343032
5TP63_17297297_ChIP-ChIP_HaCaT_Human3.04776544
6VDR_21846776_ChIP-Seq_THP-1_Human3.02857434
7AHR_22903824_ChIP-Seq_MCF-7_Human2.78523358
8FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.63487810
9ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse2.60192828
10LXR_22292898_ChIP-Seq_THP-1_Human2.58955136
11ZNF217_24962896_ChIP-Seq_MCF-7_Human2.56438802
12* KDM2B_26808549_Chip-Seq_SUP-B15_Human2.39426266
13TCF7_22412390_ChIP-Seq_EML_Mouse2.31744096
14VDR_24763502_ChIP-Seq_THP-1_Human2.25170456
15ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.24990958
16RBPJ_22232070_ChIP-Seq_NCS_Mouse2.22020377
17BMI1_23680149_ChIP-Seq_NPCS_Mouse2.21114455
18* KDM2B_26808549_Chip-Seq_SIL-ALL_Human2.20498077
19IRF8_22096565_ChIP-ChIP_GC-B_Human2.19787022
20NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.12957654
21ELK3_25401928_ChIP-Seq_HUVEC_Human2.12227830
22EZH2_18974828_ChIP-Seq_MESCs_Mouse2.08875010
23RNF2_18974828_ChIP-Seq_MESCs_Mouse2.08875010
24MYC_22102868_ChIP-Seq_BL_Human2.08746676
25MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.07779323
26EED_16625203_ChIP-ChIP_MESCs_Mouse2.07254383
27MAF_26560356_Chip-Seq_TH1_Human2.03428211
28* KDM2B_26808549_Chip-Seq_DND41_Human2.02400306
29ARNT_22903824_ChIP-Seq_MCF-7_Human2.02291054
30CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.00697402
31STAT6_21828071_ChIP-Seq_BEAS2B_Human1.98660580
32* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.97381510
33TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.92302445
34TP53_18474530_ChIP-ChIP_U2OS_Human1.88838664
35RUNX1_22412390_ChIP-Seq_EML_Mouse1.87248685
36RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.85244758
37ESR1_20079471_ChIP-ChIP_T-47D_Human1.84648928
38THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.83855273
39SPI1_23127762_ChIP-Seq_K562_Human1.79839081
40CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.79400609
41RNF2_27304074_Chip-Seq_ESCs_Mouse1.79066838
42* UTX_26944678_Chip-Seq_JUKART_Human1.76821527
43P68_20966046_ChIP-Seq_HELA_Human1.76529799
44RING1B_27294783_Chip-Seq_ESCs_Mouse1.74994311
45IRF8_21731497_ChIP-ChIP_J774_Mouse1.70979029
46SOX2_18555785_ChIP-Seq_MESCs_Mouse1.70371122
47MAF_26560356_Chip-Seq_TH2_Human1.67038745
48DROSHA_22980978_ChIP-Seq_HELA_Human1.66959303
49EZH2_27294783_Chip-Seq_ESCs_Mouse1.64442224
50SUZ12_27294783_Chip-Seq_ESCs_Mouse1.62154925
51SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.61382402
52BP1_19119308_ChIP-ChIP_Hs578T_Human1.60797754
53NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.60136837
54* SMC4_20622854_ChIP-Seq_HELA_Human1.60049558
55KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.58652623
56KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.58652623
57KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.58652623
58NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.57279391
59BCOR_27268052_Chip-Seq_Bcells_Human1.55549173
60SPI1_23547873_ChIP-Seq_NB4_Human1.54924824
61TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.54719491
62SA1_27219007_Chip-Seq_ERYTHROID_Human1.53997791
63CTCF_27219007_Chip-Seq_ERYTHROID_Human1.53172535
64NR3C1_21868756_ChIP-Seq_MCF10A_Human1.52811005
65JARID2_20075857_ChIP-Seq_MESCs_Mouse1.51157595
66ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.51071538
67PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.50933752
68* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.49163006
69CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.47851230
70BCL6_27268052_Chip-Seq_Bcells_Human1.47553948
71SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.46153330
72BRD4_27068464_Chip-Seq_AML-cells_Mouse1.44725600
73* RUNX1_27514584_Chip-Seq_MCF-7_Human1.43763389
74KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.43475671
75SCL_19346495_ChIP-Seq_HPC-7_Human1.42579779
76SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.42110413
77ZNF263_19887448_ChIP-Seq_K562_Human1.42044035
78TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.41891843
79POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.41891843
80RING1B_27294783_Chip-Seq_NPCs_Mouse1.41886901
81SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.41261605
82STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.40672869
83KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.40662196
84RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.39715547
85GATA1_19941827_ChIP-Seq_MEL_Mouse1.37631264
86TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.37522364
87EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.36287895
88CREB1_26743006_Chip-Seq_LNCaP_Human1.35753887
89MYB_21317192_ChIP-Seq_ERMYB_Mouse1.35355789
90SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.35109970
91MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.34514889
92IRF8_27001747_Chip-Seq_BMDM_Mouse1.32733871
93WT1_19549856_ChIP-ChIP_CCG9911_Human1.31714257
94TET1_21451524_ChIP-Seq_MESCs_Mouse1.31637467
95CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.31177430
96TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.31038933
97PPARA_22158963_ChIP-Seq_LIVER_Mouse1.30623777
98GATA1_22383799_ChIP-Seq_G1ME_Mouse1.30509537
99KDM2B_26808549_Chip-Seq_K562_Human1.29229176
100* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.29174469
101PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.28818997
102PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.28595112
103EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.28152677
104SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.27692054
105* KDM2B_26808549_Chip-Seq_JURKAT_Human1.27040891
106RARG_19884340_ChIP-ChIP_MEFs_Mouse1.26467328
107CDX2_20551321_ChIP-Seq_CACO-2_Human1.26315881
108NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.24942764
109* NCOR1_26117541_ChIP-Seq_K562_Human1.24104169
110WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.23124867
111PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.22175078
112CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.22105037
113ELF1_20517297_ChIP-Seq_JURKAT_Human1.22054364
114TP53_20018659_ChIP-ChIP_R1E_Mouse1.21942192
115SOX9_24532713_ChIP-Seq_HFSC_Mouse1.21166004
116CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.21079134
117RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20721742
118TOP2B_26459242_ChIP-Seq_MCF-7_Human1.20307822
119SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.20180951
120PU.1_20513432_ChIP-Seq_Bcells_Mouse1.20153404
121CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.20133577
122ATF3_27146783_Chip-Seq_COLON_Human1.19110514
123VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.19021313
124P63_26484246_Chip-Seq_KERATINOCYTES_Human1.18977105
125CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.18945942
126RXR_22158963_ChIP-Seq_LIVER_Mouse1.18520861
127KLF5_25053715_ChIP-Seq_YYC3_Human1.17719263
128STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.16510454
129ERG_21242973_ChIP-ChIP_JURKAT_Human1.15326951
130E2F1_20622854_ChIP-Seq_HELA_Human1.14988340
131SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.14942634
132CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.14867624
133SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.14854908
134STAT4_19710469_ChIP-ChIP_TH1__Mouse1.13132926
135SRY_22984422_ChIP-ChIP_TESTIS_Rat1.12914059
136SOX2_27498859_Chip-Seq_STOMACH_Mouse1.12308394
137JARID2_20064375_ChIP-Seq_MESCs_Mouse1.12240411
138* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.12055863
139VDR_22108803_ChIP-Seq_LS180_Human1.11830542
140SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.11703595
141FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.10766983
142CTBP1_25329375_ChIP-Seq_LNCAP_Human1.10759616
143* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.10405050
144ISL1_27105846_Chip-Seq_CPCs_Mouse1.10122648
145PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.09516427
146ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.08167152
147* ESR1_21235772_ChIP-Seq_MCF-7_Human1.08148173
148WT1_25993318_ChIP-Seq_PODOCYTE_Human1.07946450
149PHF8_20622854_ChIP-Seq_HELA_Human1.07153157
150UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.06535067
151SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.06308540
152RNF2_27304074_Chip-Seq_NSC_Mouse1.06147468
153LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.05037782
154EZH2_27304074_Chip-Seq_ESCs_Mouse1.04922514
155RARB_24833708_ChIP-Seq_LIVER_Mouse1.04802623
156GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.04770944
157MYB_26560356_Chip-Seq_TH1_Human1.04687058
158SA1_27219007_Chip-Seq_Bcells_Human1.04093677
159EP300_21415370_ChIP-Seq_HL-1_Mouse1.03752521
160GATA1_19941826_ChIP-Seq_K562_Human1.03510260
161CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.03261474
162MTF2_20144788_ChIP-Seq_MESCs_Mouse1.01561828
163EGR1_19374776_ChIP-ChIP_THP-1_Human1.01302201
164GATA3_24758297_ChIP-Seq_MCF-7_Human1.01193013
165SOX2_20726797_ChIP-Seq_SW620_Human0.99445228
166POU5F1_16153702_ChIP-ChIP_HESCs_Human0.97269402
167TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.97243242
168TCF3_18347094_ChIP-ChIP_MESCs_Mouse0.94320987
169* ESR2_21235772_ChIP-Seq_MCF-7_Human0.94254484
170AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.93383116
171RACK7_27058665_Chip-Seq_MCF-7_Human0.90698989
172ZFP281_18757296_ChIP-ChIP_E14_Mouse0.90390153
173PIAS1_25552417_ChIP-Seq_VCAP_Human0.89920325
174FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.89912827
175NFIB_24661679_ChIP-Seq_LUNG_Mouse0.87896032
176FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.86209361
177TAF15_26573619_Chip-Seq_HEK293_Human0.85463696
178CTCF_27219007_Chip-Seq_Bcells_Human0.82040283
179TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.80938286
180ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.80934846
181* BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.80673193
182MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.80471419
183TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.78218080

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008789_abnormal_olfactory_epithelium6.48636704
2MP0001984_abnormal_olfaction6.32063514
3MP0005499_abnormal_olfactory_system5.90004927
4MP0005394_taste/olfaction_phenotype5.90004927
5MP0001485_abnormal_pinna_reflex5.29007538
6MP0003436_decreased_susceptibility_to3.99248242
7MP0010030_abnormal_orbit_morphology3.72289632
8MP0003724_increased_susceptibility_to3.66455136
9MP0003879_abnormal_hair_cell3.54993007
10MP0003191_abnormal_cellular_cholesterol3.22237470
11MP0003303_peritoneal_inflammation3.18488505
12* MP0003878_abnormal_ear_physiology3.17796192
13* MP0005377_hearing/vestibular/ear_phenot3.17796192
14MP0002419_abnormal_innate_immunity2.64747769
15* MP0000026_abnormal_inner_ear2.60818479
16* MP0001963_abnormal_hearing_physiology2.52676360
17MP0005025_abnormal_response_to2.46455730
18MP0003300_gastrointestinal_ulcer2.32224327
19MP0002233_abnormal_nose_morphology2.30143208
20MP0008260_abnormal_autophagy2.25617879
21MP0002160_abnormal_reproductive_system2.18603417
22MP0003866_abnormal_defecation2.14060365
23MP0005645_abnormal_hypothalamus_physiol2.13428779
24MP0000049_abnormal_middle_ear2.08046609
25MP0005083_abnormal_biliary_tract2.07523030
26MP0001790_abnormal_immune_system2.03194253
27MP0005387_immune_system_phenotype2.03194253
28MP0005451_abnormal_body_composition2.00036800
29MP0001835_abnormal_antigen_presentation1.98891266
30MP0001533_abnormal_skeleton_physiology1.93958034
31MP0009785_altered_susceptibility_to1.92850280
32MP0002653_abnormal_ependyma_morphology1.87928995
33MP0002420_abnormal_adaptive_immunity1.87689798
34MP0001819_abnormal_immune_cell1.86640960
35MP0005248_abnormal_Harderian_gland1.86283167
36MP0003183_abnormal_peptide_metabolism1.86249597
37MP0001346_abnormal_lacrimal_gland1.84202739
38MP0003172_abnormal_lysosome_physiology1.82950248
39MP0006082_CNS_inflammation1.82887238
40MP0002723_abnormal_immune_serum1.81815423
41MP0005000_abnormal_immune_tolerance1.80859787
42MP0000858_altered_metastatic_potential1.80376344
43MP0003941_abnormal_skin_development1.80339973
44MP0001800_abnormal_humoral_immune1.76061763
45MP0000685_abnormal_immune_system1.75678330
46MP0000534_abnormal_ureter_morphology1.74075754
47MP0009278_abnormal_bone_marrow1.71901030
48MP0010155_abnormal_intestine_physiology1.69863524
49MP0002796_impaired_skin_barrier1.66690194
50MP0002452_abnormal_antigen_presenting1.66474979
51MP0004947_skin_inflammation1.65657974
52MP0004885_abnormal_endolymph1.65604491
53MP0000566_synostosis1.65564252
54MP0003942_abnormal_urinary_system1.65273157
55MP0002405_respiratory_system_inflammati1.64953134
56MP0002249_abnormal_larynx_morphology1.64054686
57MP0002396_abnormal_hematopoietic_system1.63625103
58MP0002277_abnormal_respiratory_mucosa1.62756292
59MP0003705_abnormal_hypodermis_morpholog1.62453282
60MP0010234_abnormal_vibrissa_follicle1.61902682
61MP0005076_abnormal_cell_differentiation1.59779045
62MP0005464_abnormal_platelet_physiology1.57064082
63MP0002009_preneoplasia1.50993081
64MP0003806_abnormal_nucleotide_metabolis1.48544280
65MP0002148_abnormal_hypersensitivity_rea1.47898535
66MP0001873_stomach_inflammation1.47558819
67MP0004134_abnormal_chest_morphology1.47063465
68MP0003763_abnormal_thymus_physiology1.46624041
69MP0003566_abnormal_cell_adhesion1.43678330
70MP0000613_abnormal_salivary_gland1.41746078
71MP0004742_abnormal_vestibular_system1.40690798
72MP0002398_abnormal_bone_marrow1.39767731
73MP0001845_abnormal_inflammatory_respons1.39186187
74MP0000762_abnormal_tongue_morphology1.39127223
75MP0000716_abnormal_immune_system1.38175872
76MP0009250_abnormal_appendicular_skeleto1.34676017
77MP0000465_gastrointestinal_hemorrhage1.33455903
78MP0002938_white_spotting1.33366128
79MP0005058_abnormal_lysosome_morphology1.32423663
80MP0005671_abnormal_response_to1.32283596
81MP0003938_abnormal_ear_development1.31578841
82MP0000372_irregular_coat_pigmentation1.30077936
83MP0005389_reproductive_system_phenotype1.28734885
84MP0002877_abnormal_melanocyte_morpholog1.25031130
85MP0000703_abnormal_thymus_morphology1.24141097
86MP0009333_abnormal_splenocyte_physiolog1.22618815
87MP0002722_abnormal_immune_system1.22613026
88MP0008469_abnormal_protein_level1.21434166
89MP0003045_fibrosis1.20008600
90MP0003075_altered_response_to1.19076547
91MP0001851_eye_inflammation1.18299595
92MP0005408_hypopigmentation1.16971556
93MP0005187_abnormal_penis_morphology1.15461380
94MP0009053_abnormal_anal_canal1.14644046
95MP0002429_abnormal_blood_cell1.14590303
96MP0005310_abnormal_salivary_gland1.13776944
97* MP0002752_abnormal_somatic_nervous1.13044863
98MP0000490_abnormal_crypts_of1.09926959
99MP0000470_abnormal_stomach_morphology1.09822104
100MP0003828_pulmonary_edema1.07094626
101MP0001286_abnormal_eye_development1.06809246
102MP0000689_abnormal_spleen_morphology1.06707038
103MP0000678_abnormal_parathyroid_gland1.05619289
104MP0002184_abnormal_innervation1.01284595
105MP0002138_abnormal_hepatobiliary_system1.00873029
106MP0004133_heterotaxia1.00539858
107MP0005166_decreased_susceptibility_to0.99760670
108MP0005508_abnormal_skeleton_morphology0.99653759
109MP0005501_abnormal_skin_physiology0.99639369
110MP0003123_paternal_imprinting0.99244197
111MP0002132_abnormal_respiratory_system0.99164708
112MP0004883_abnormal_blood_vessel0.96266823
113MP0004510_myositis0.95427854
114MP0003755_abnormal_palate_morphology0.95078826
115MP0005397_hematopoietic_system_phenotyp0.93838561
116MP0001545_abnormal_hematopoietic_system0.93838561
117MP0005390_skeleton_phenotype0.91796575
118MP0002177_abnormal_outer_ear0.91758788
119MP0002098_abnormal_vibrissa_morphology0.91633820
120MP0008874_decreased_physiological_sensi0.89798607
121MP0003787_abnormal_imprinting0.88994281
122MP0008875_abnormal_xenobiotic_pharmacok0.88805026
123MP0009931_abnormal_skin_appearance0.87652355
124MP0005197_abnormal_uvea_morphology0.86307944
125MP0002932_abnormal_joint_morphology0.85304684
126MP0001919_abnormal_reproductive_system0.85170511
127MP0009840_abnormal_foam_cell0.84477349
128MP0002116_abnormal_craniofacial_bone0.83392501
129MP0002998_abnormal_bone_remodeling0.80992464
130MP0005319_abnormal_enzyme/_coenzyme0.80703989
131MP0002751_abnormal_autonomic_nervous0.79597380
132MP0002928_abnormal_bile_duct0.79498213
133MP0000467_abnormal_esophagus_morphology0.79184332
134MP0005164_abnormal_response_to0.78541062
135MP0002102_abnormal_ear_morphology0.78192266
136MP0001542_abnormal_bone_strength0.77977056
137MP0000750_abnormal_muscle_regeneration0.77881032
138MP0001270_distended_abdomen0.76772350
139MP0000778_abnormal_nervous_system0.75746909
140MP0009764_decreased_sensitivity_to0.74775380
141MP0003638_abnormal_response/metabolism_0.74759387
142MP0001849_ear_inflammation0.74087080
143MP0001663_abnormal_digestive_system0.70869831
144MP0010352_gastrointestinal_tract_polyps0.70729590
145MP0003186_abnormal_redox_activity0.70319614
146MP0004185_abnormal_adipocyte_glucose0.69477725
147MP0001216_abnormal_epidermal_layer0.68843638
148MP0005646_abnormal_pituitary_gland0.68610404
149MP0002092_abnormal_eye_morphology0.68525792
150MP0005409_darkened_coat_color0.68387109
151MP0004858_abnormal_nervous_system0.67677915
152MP0003943_abnormal_hepatobiliary_system0.67208713
153MP0003937_abnormal_limbs/digits/tail_de0.67203048
154MP0001340_abnormal_eyelid_morphology0.66570059
155MP0002168_other_aberrant_phenotype0.65780199
156MP0005023_abnormal_wound_healing0.65354790
157MP0000631_abnormal_neuroendocrine_gland0.65043398
158* MP0001486_abnormal_startle_reflex0.65039093
159MP0002734_abnormal_mechanical_nocicepti0.64774834
160MP0004264_abnormal_extraembryonic_tissu0.63917358
161MP0002697_abnormal_eye_size0.63833734
162MP0002111_abnormal_tail_morphology0.63692381
163* MP0002882_abnormal_neuron_morphology0.63293704
164MP0000163_abnormal_cartilage_morphology0.62557686
165MP0001177_atelectasis0.61675133
166MP0005195_abnormal_posterior_eye0.58541762
167MP0000003_abnormal_adipose_tissue0.57120913
168MP0003453_abnormal_keratinocyte_physiol0.56846436
169MP0006292_abnormal_olfactory_placode0.56714058
170MP0005220_abnormal_exocrine_pancreas0.55816765
171MP0003861_abnormal_nervous_system0.54762684
172MP0000647_abnormal_sebaceous_gland0.54261470
173MP0002109_abnormal_limb_morphology0.53519347
174MP0005171_absent_coat_pigmentation0.52251492
175MP0004147_increased_porphyrin_level0.52058551
176MP0002557_abnormal_social/conspecific_i0.51993693
177MP0004381_abnormal_hair_follicle0.50658719
178MP0001119_abnormal_female_reproductive0.50377751
179MP0005085_abnormal_gallbladder_physiolo0.50072510
180MP0005623_abnormal_meninges_morphology0.47319317
181MP0003115_abnormal_respiratory_system0.47201782
182MP0002081_perinatal_lethality0.46426319
183MP0005365_abnormal_bile_salt0.46423843
184MP0001186_pigmentation_phenotype0.44960270
185MP0001293_anophthalmia0.44625151

Predicted human phenotypes

RankGene SetZ-score
1Eczematoid dermatitis (HP:0000976)5.90730971
2Hypochromic microcytic anemia (HP:0004840)5.86430042
3Lip pit (HP:0100267)5.46450282
4Recurrent abscess formation (HP:0002722)5.24823467
5Mixed hearing impairment (HP:0000410)4.77356167
6Myositis (HP:0100614)4.76157903
7Abnormality of macrophages (HP:0004311)4.73495695
8Hypochromic anemia (HP:0001931)4.68427994
9Recurrent gram-negative bacterial infections (HP:0005420)4.59879815
10Recurrent bacterial skin infections (HP:0005406)4.50015856
11Abnormality of cochlea (HP:0000375)4.32644193
12Orchitis (HP:0100796)4.30383269
13Epiphyseal dysplasia (HP:0002656)4.02309779
14Obstructive lung disease (HP:0006536)3.97598819
15Chronic obstructive pulmonary disease (HP:0006510)3.97598819
16Morphological abnormality of the inner ear (HP:0011390)3.72952056
17Preauricular pit (HP:0004467)3.71722779
18Periauricular skin pits (HP:0100277)3.71722779
19Elevated erythrocyte sedimentation rate (HP:0003565)3.69879082
20Aplasia/Hypoplasia of the pubic bone (HP:0009104)3.67723063
21Nasal polyposis (HP:0100582)3.67597322
22Stomatitis (HP:0010280)3.64747565
23Renal dysplasia (HP:0000110)3.61562261
24Aplasia/Hypoplasia of the fovea (HP:0008060)3.60632091
25Hypoplasia of the fovea (HP:0007750)3.60632091
26Increased IgE level (HP:0003212)3.53778341
27Retrobulbar optic neuritis (HP:0100654)3.52503148
28Optic neuritis (HP:0100653)3.52503148
29Papillary thyroid carcinoma (HP:0002895)3.45852755
30Abnormal ciliary motility (HP:0012262)3.42171151
31Abnormality of midbrain morphology (HP:0002418)3.39573328
32Molar tooth sign on MRI (HP:0002419)3.39573328
33Micronodular cirrhosis (HP:0001413)3.30266039
34Potter facies (HP:0002009)3.21138895
35Facial shape deformation (HP:0011334)3.21138895
36Gastrointestinal infarctions (HP:0005244)3.21046063
37Urticaria (HP:0001025)3.16606034
38Hypoplastic ischia (HP:0003175)3.12993004
39Mediastinal lymphadenopathy (HP:0100721)3.12508183
40Abnormality of the fovea (HP:0000493)3.12427309
41Bilateral microphthalmos (HP:0007633)3.05030172
42Gingivitis (HP:0000230)3.00637276
43Dynein arm defect of respiratory motile cilia (HP:0012255)2.95277722
44Absent/shortened dynein arms (HP:0200106)2.95277722
45Anomalous pulmonary venous return (HP:0010772)2.94164945
46Vertebral arch anomaly (HP:0008438)2.92988065
47Episodic fever (HP:0001954)2.92553198
48Distal lower limb muscle weakness (HP:0009053)2.91026890
49Abnormal respiratory epithelium morphology (HP:0012253)2.89855964
50Abnormal respiratory motile cilium morphology (HP:0005938)2.89855964
51Morphological abnormality of the middle ear (HP:0008609)2.89283206
52Meningitis (HP:0001287)2.88784608
53True hermaphroditism (HP:0010459)2.85923943
54Recurrent skin infections (HP:0001581)2.85910596
55Cellulitis (HP:0100658)2.83909050
56Abnormality of the nasal mucosa (HP:0000433)2.81741994
57Recurrent fungal infections (HP:0002841)2.81727501
58Abnormality of the diencephalon (HP:0010662)2.77770817
59Aplasia involving bones of the extremities (HP:0009825)2.77011866
60Aplasia involving bones of the upper limbs (HP:0009823)2.77011866
61Aplasia of the phalanges of the hand (HP:0009802)2.77011866
62Vitreoretinal degeneration (HP:0000655)2.73698306
63Prolonged bleeding time (HP:0003010)2.73678537
64Abnormal respiratory motile cilium physiology (HP:0012261)2.73013604
65Urethral obstruction (HP:0000796)2.72940552
66Abnormality of the ischium (HP:0003174)2.71671987
67Hemorrhage of the eye (HP:0011885)2.70933267
68Renal tubular acidosis (HP:0001947)2.68582189
69Unilateral renal agenesis (HP:0000122)2.68505389
70Absent eyelashes (HP:0000561)2.63708629
71Anosmia (HP:0000458)2.62997261
72Petechiae (HP:0000967)2.62488124
73Sprengel anomaly (HP:0000912)2.61238726
74Abnormality of the renal medulla (HP:0100957)2.59532500
75Skin pits (HP:0100276)2.59181980
76Microcytic anemia (HP:0001935)2.57039940
77Thyroid carcinoma (HP:0002890)2.56252398
78Abnormality of the pulmonary veins (HP:0011718)2.55116964
79Multifactorial inheritance (HP:0001426)2.54989391
80Severe Myopia (HP:0011003)2.50774368
81Bell-shaped thorax (HP:0001591)2.49176672
82Abnormality of the intervertebral disk (HP:0005108)2.47181184
83Dysphonia (HP:0001618)2.44557354
84Down-sloping shoulders (HP:0200021)2.42380101
85Anorexia (HP:0002039)2.41845390
86Chorioretinal atrophy (HP:0000533)2.40842749
87Metaphyseal cupping (HP:0003021)2.40157130
88Abnormality of the pubic bones (HP:0003172)2.39469052
89Pelvic girdle muscle weakness (HP:0003749)2.39107673
90Renal duplication (HP:0000075)2.38736015
91Abnormality of the heme biosynthetic pathway (HP:0010472)2.38159188
92Aplasia/Hypoplasia of the macula (HP:0008059)2.36973515
93Abnormal delayed hypersensitivity skin test (HP:0002963)2.36725666
94Toxemia of pregnancy (HP:0100603)2.32879266
95Gastrointestinal inflammation (HP:0004386)2.28371043
96Occipital encephalocele (HP:0002085)2.27794725
97Renovascular hypertension (HP:0100817)2.27257695
98Insomnia (HP:0100785)2.26783933
99Keratoconjunctivitis sicca (HP:0001097)2.26261836
100Chronic otitis media (HP:0000389)2.26232741
101Renal hypoplasia (HP:0000089)2.26038966
102Humeroradial synostosis (HP:0003041)2.25127784
103Synostosis involving the elbow (HP:0003938)2.25127784
104Popliteal pterygium (HP:0009756)2.24822024
105Abnormality of the lacrimal duct (HP:0011481)2.24488521
106Easy fatigability (HP:0003388)2.24450553
107Encephalitis (HP:0002383)2.23641429
108Amyloidosis (HP:0011034)2.22382516
109Pancreatic fibrosis (HP:0100732)2.21763656
110Interstitial pulmonary disease (HP:0006530)2.21557183
111Chest pain (HP:0100749)2.20979792
112Pustule (HP:0200039)2.19311220
113Bifid tongue (HP:0010297)2.18672461
114Inflammation of the large intestine (HP:0002037)2.18667565
115Cupped ear (HP:0000378)2.16265972
116Aplasia/Hypoplasia affecting the retina (HP:0008061)2.15795052
117Recurrent corneal erosions (HP:0000495)2.15143710
118Nephronophthisis (HP:0000090)2.14955420
119Vasculitis (HP:0002633)2.14639929
120Slow saccadic eye movements (HP:0000514)2.13606157
121Obstructive sleep apnea (HP:0002870)2.13374010
122Arterial thrombosis (HP:0004420)2.09039986
123Purpura (HP:0000979)2.08734555
124Hypothermia (HP:0002045)2.08289885
125Hepatosplenomegaly (HP:0001433)2.07849563
126Nasolacrimal duct obstruction (HP:0000579)2.06358224
127Recurrent otitis media (HP:0000403)2.05803995
128Aplasia/Hypoplasia of the scapulae (HP:0006713)2.05731103
129Hypoplastic scapulae (HP:0000882)2.05731103
130Recurrent sinusitis (HP:0011108)2.05693884
131Congenital sensorineural hearing impairment (HP:0008527)2.05584331
132Elfin facies (HP:0004428)2.05185046
133Stenosis of the external auditory canal (HP:0000402)2.05024226
134Epistaxis (HP:0000421)2.04681524
135Keratoconjunctivitis (HP:0001096)2.04645026
136Abnormal vertebral ossification (HP:0100569)2.04452514
137Asymmetry of the thorax (HP:0001555)2.03489498
138Increased serum ferritin (HP:0003281)2.03277474
139Progressive sensorineural hearing impairment (HP:0000408)2.03177477
140Abnormality of the pericardium (HP:0001697)2.02234752
141Joint hemorrhage (HP:0005261)2.01235225
142Loss of speech (HP:0002371)2.00499211
143Polygenic inheritance (HP:0010982)1.99988573
144Bronchiectasis (HP:0002110)1.99411083
145Abnormality of macular pigmentation (HP:0008002)1.99279495
146Broad face (HP:0000283)1.99278941
147Facial cleft (HP:0002006)1.99263511
148Chronic mucocutaneous candidiasis (HP:0002728)1.99068190
149Recurrent cutaneous fungal infections (HP:0011370)1.99068190
150Increased cerebral lipofuscin (HP:0011813)1.98735078
151Pulmonary artery stenosis (HP:0004415)1.98024252
152Peritonitis (HP:0002586)1.96856886
153Gingival bleeding (HP:0000225)1.96215103
154Preauricular skin tag (HP:0000384)1.95994958
155Absent eyebrow (HP:0002223)1.95199978
156Abnormality of the hip-girdle musculature (HP:0001445)1.95102370
157Abnormality of the musculature of the pelvis (HP:0001469)1.95102370
158Abnormality of polysaccharide metabolism (HP:0011012)1.92973686
159Abnormality of glycosaminoglycan metabolism (HP:0004371)1.92973686
160Abnormality of mucopolysaccharide metabolism (HP:0011020)1.92973686
161Acne (HP:0001061)1.92777098
162Chronic bronchitis (HP:0004469)1.92432037
163Hemivertebrae (HP:0002937)1.92215747
164Spontaneous hematomas (HP:0007420)1.92196761
165Hypertriglyceridemia (HP:0002155)1.92190304
166Hepatocellular carcinoma (HP:0001402)1.90112740
167Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.90059045
168Prolonged neonatal jaundice (HP:0006579)1.88693576
169Abnormality of the nasolacrimal system (HP:0000614)1.88110914
170Increased neuronal autofluorescent lipopigment (HP:0002074)1.86882482
171Xerostomia (HP:0000217)1.86709012
172Stomach cancer (HP:0012126)1.86279133
173Pathologic fracture (HP:0002756)1.83187613
174Breast aplasia (HP:0100783)1.83080035
175Synostosis of carpal bones (HP:0005048)1.82992577
176Stridor (HP:0010307)1.82275065
177Urinary glycosaminoglycan excretion (HP:0003541)1.81433292
178Mucopolysacchariduria (HP:0008155)1.81433292
179J-shaped sella turcica (HP:0002680)1.81355862
180Pulmonary embolism (HP:0002204)1.80760802
181Abnormality of iron homeostasis (HP:0011031)1.78911674
182Erectile abnormalities (HP:0100639)1.78286543
183Overriding aorta (HP:0002623)1.77118125
184Hyperacusis (HP:0010780)1.76187297
185Rhinitis (HP:0012384)1.75811662
186Right ventricular cardiomyopathy (HP:0011663)1.75396575
187Sepsis (HP:0100806)1.74835394
188Absent rod-and cone-mediated responses on ERG (HP:0007688)1.74422167
189Thin bony cortex (HP:0002753)1.74384761
190Hypoparathyroidism (HP:0000829)1.73760752
191Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.73667477
192Split foot (HP:0001839)1.73094925
193Abnormal hemoglobin (HP:0011902)1.72497279
194Hypoplastic labia majora (HP:0000059)1.71477740

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR25.95411620
2ERBB35.86131786
3RIPK15.55661291
4MAPK154.33933093
5TRIB33.54597316
6ERN13.51912741
7BMPR23.51642505
8RIPK43.36299812
9ARAF3.26178256
10IRAK42.82097169
11SMG12.77185036
12LMTK22.70975920
13EPHB12.62817867
14SIK12.62437791
15TNK22.55182913
16PIM22.46214640
17PRPF4B2.35302964
18MAP4K12.31550708
19GRK62.22603522
20PKN21.87383823
21CSK1.84833506
22BLK1.81712416
23FRK1.79038661
24PTK61.70244137
25MAP3K31.68900659
26EPHA21.68330953
27NEK11.63886307
28TYK21.60966893
29CSNK1A1L1.59803394
30TRPM71.55822096
31STK38L1.51363811
32PLK31.40566065
33NUAK11.38807258
34ZAK1.38761278
35ZAP701.38488491
36MAP3K11.32993733
37PRKD21.30329704
38RPS6KB21.30079689
39TESK21.29985391
40KSR21.25788207
41HIPK21.25697541
42LATS11.25362213
43TBK11.25198512
44MARK21.23603838
45CSNK1G31.17501049
46PAK41.15075568
47FES1.14154739
48SIK21.12910995
49HCK1.12047770
50STK381.11935104
51TAOK21.11553429
52CDK121.10582500
53PLK41.04584269
54DYRK31.03361306
55PDPK11.02989851
56CSNK1G11.02952092
57BRAF1.02230276
58DYRK1B1.01302181
59MUSK1.00735266
60MAP3K120.99201944
61MAP3K20.99175883
62CSNK1G20.98387887
63BTK0.96006659
64PRKCI0.93280113
65MKNK10.92275402
66STK390.92119111
67MAP2K30.91803617
68TESK10.89951660
69IKBKE0.89462044
70MST1R0.89273646
71PHKG20.88169925
72PHKG10.88169925
73LRRK20.86758605
74MAP3K70.85806812
75FGFR40.83367069
76MAP3K110.83323384
77DAPK20.78683683
78BMPR1B0.76962996
79PAK30.76824291
80PDK10.75944504
81MST40.74044910
82IRAK30.73968486
83RPS6KA20.73897469
84MAP3K60.72845502
85WNK10.71714266
86RPS6KC10.70914634
87RPS6KL10.70914634
88JAK20.69542500
89IRAK10.69183942
90MAPKAPK20.66813373
91CSF1R0.66452009
92SGK20.65508980
93PLK20.65172456
94ADRBK20.65170151
95PBK0.64383155
96MAP2K20.63840916
97PRKCE0.63312870
98STK240.62116735
99TAOK10.61572336
100RET0.61349879
101JAK30.61299699
102STK160.61206839
103PRKG20.60468017
104FGR0.60162819
105CDK60.59565484
106RPS6KA60.59027287
107NEK90.57204391
108CAMK2D0.55925938
109CAMK2B0.55746706
110ERBB20.55582077
111CAMK2G0.55252556
112NME10.55014828
113MKNK20.53786231
114MAP2K40.51549574
115LIMK10.51358653
116WNK40.51205504
117LYN0.48930782
118ICK0.48229679
119BMX0.47766703
120SYK0.46828044
121SRPK10.46294766
122PTK2B0.45841372
123LCK0.45372975
124NEK60.45368921
125MARK30.45000988
126CDK30.44473663
127STK100.44041692
128MAP2K60.43119636
129SGK2230.41436333
130SGK4940.41436333
131FYN0.41268104
132YES10.40180197
133IKBKB0.39804877
134TNIK0.39037340
135STK110.39021519
136BRD40.38527473
137NLK0.38009629
138PRKCZ0.37954064
139CDC42BPA0.36077275
140IRAK20.35710119
141PRKCD0.35546037
142MAP2K10.34444869
143DAPK10.34337123
144RPS6KA50.34017299
145CAMKK10.33687277
146PRKD10.33597824
147JAK10.32472111
148SGK30.32470535
149CASK0.32333087
150DYRK1A0.31397830
151RPS6KA10.31011244
152AKT30.29998353
153MAPKAPK30.28386955
154MAP3K80.28140582
155AURKA0.27925422
156MAPK130.25390285
157MINK10.24838630
158UHMK10.24226124
159NEK20.23820996
160CHUK0.22690258
161PRKD30.22446251
162GSK3A0.20559657
163MAP3K100.19687989
164FER0.18180279
165SIK30.17886238
166FGFR30.16408711
167STK40.16220842
168PLK10.15565483

Predicted pathways (KEGG)

RankGene SetZ-score
1Ascorbate and aldarate metabolism_Homo sapiens_hsa000535.32145923
2Pentose and glucuronate interconversions_Homo sapiens_hsa000405.21970373
3Olfactory transduction_Homo sapiens_hsa047405.19069153
4Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009803.40617184
5Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.38633675
6Drug metabolism - other enzymes_Homo sapiens_hsa009833.31908962
7Chemical carcinogenesis_Homo sapiens_hsa052042.95625931
8Sulfur relay system_Homo sapiens_hsa041222.83056533
9Osteoclast differentiation_Homo sapiens_hsa043802.75638671
10Steroid hormone biosynthesis_Homo sapiens_hsa001402.63530599
11Sulfur metabolism_Homo sapiens_hsa009202.61526172
12Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046662.54647138
13Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008602.52024408
14Acute myeloid leukemia_Homo sapiens_hsa052212.38439656
15Starch and sucrose metabolism_Homo sapiens_hsa005002.32873935
16Leishmaniasis_Homo sapiens_hsa051402.23570393
17Retinol metabolism_Homo sapiens_hsa008302.21276604
18Phototransduction_Homo sapiens_hsa047441.99159195
19Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.96689940
20Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.93763650
21B cell receptor signaling pathway_Homo sapiens_hsa046621.90683275
22Tuberculosis_Homo sapiens_hsa051521.85547007
23Toll-like receptor signaling pathway_Homo sapiens_hsa046201.66059032
24Staphylococcus aureus infection_Homo sapiens_hsa051501.65648427
25Notch signaling pathway_Homo sapiens_hsa043301.64922461
26Non-small cell lung cancer_Homo sapiens_hsa052231.61750450
27Malaria_Homo sapiens_hsa051441.60928441
28Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.60442008
29Taste transduction_Homo sapiens_hsa047421.56164441
30VEGF signaling pathway_Homo sapiens_hsa043701.51315888
31Chemokine signaling pathway_Homo sapiens_hsa040621.48404106
32Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.47103055
33Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.46096293
34Measles_Homo sapiens_hsa051621.45577404
35Collecting duct acid secretion_Homo sapiens_hsa049661.36947021
36Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.35645603
37African trypanosomiasis_Homo sapiens_hsa051431.35330237
38Endocytosis_Homo sapiens_hsa041441.28749492
39Glycosaminoglycan degradation_Homo sapiens_hsa005311.27795051
40Influenza A_Homo sapiens_hsa051641.27488541
41Legionellosis_Homo sapiens_hsa051341.27215456
42Hippo signaling pathway_Homo sapiens_hsa043901.26851637
43Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.26175858
44Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.22726106
45T cell receptor signaling pathway_Homo sapiens_hsa046601.20262867
46NOD-like receptor signaling pathway_Homo sapiens_hsa046211.16705287
47Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.15244809
48Basal cell carcinoma_Homo sapiens_hsa052171.15032149
49* Tight junction_Homo sapiens_hsa045301.14298926
50Renal cell carcinoma_Homo sapiens_hsa052111.12742567
51Toxoplasmosis_Homo sapiens_hsa051451.10918152
52Choline metabolism in cancer_Homo sapiens_hsa052311.10522827
53Pentose phosphate pathway_Homo sapiens_hsa000301.10518955
54Endometrial cancer_Homo sapiens_hsa052131.10021882
55Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.07705494
56Insulin resistance_Homo sapiens_hsa049311.07268308
57Inositol phosphate metabolism_Homo sapiens_hsa005621.06424789
58Thyroid cancer_Homo sapiens_hsa052161.05970575
59Fructose and mannose metabolism_Homo sapiens_hsa000511.05044687
60Salmonella infection_Homo sapiens_hsa051321.04160085
61Phosphatidylinositol signaling system_Homo sapiens_hsa040701.03576454
62Phagosome_Homo sapiens_hsa041451.03524348
63RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.02414414
64Melanoma_Homo sapiens_hsa052181.01930098
65ABC transporters_Homo sapiens_hsa020101.01084357
66Apoptosis_Homo sapiens_hsa042101.00458390
67Lysosome_Homo sapiens_hsa041420.98978399
68Jak-STAT signaling pathway_Homo sapiens_hsa046300.98939519
69Carbohydrate digestion and absorption_Homo sapiens_hsa049730.98429838
70Shigellosis_Homo sapiens_hsa051310.97561385
71Sphingolipid signaling pathway_Homo sapiens_hsa040710.97224915
72Hepatitis B_Homo sapiens_hsa051610.96181963
73Glycerophospholipid metabolism_Homo sapiens_hsa005640.95257659
74beta-Alanine metabolism_Homo sapiens_hsa004100.93268600
75Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.92696497
76Other glycan degradation_Homo sapiens_hsa005110.90889051
77Glutathione metabolism_Homo sapiens_hsa004800.89696955
78Adipocytokine signaling pathway_Homo sapiens_hsa049200.89000344
79Insulin signaling pathway_Homo sapiens_hsa049100.88862121
80Phospholipase D signaling pathway_Homo sapiens_hsa040720.88497088
81Platelet activation_Homo sapiens_hsa046110.86822950
82Herpes simplex infection_Homo sapiens_hsa051680.85549781
83mTOR signaling pathway_Homo sapiens_hsa041500.85004530
84ErbB signaling pathway_Homo sapiens_hsa040120.83829925
85Prolactin signaling pathway_Homo sapiens_hsa049170.82949074
86Cholinergic synapse_Homo sapiens_hsa047250.82617926
87Central carbon metabolism in cancer_Homo sapiens_hsa052300.81881796
88Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.80903842
89Dopaminergic synapse_Homo sapiens_hsa047280.80833260
90GnRH signaling pathway_Homo sapiens_hsa049120.78865617
91Graft-versus-host disease_Homo sapiens_hsa053320.78599401
92NF-kappa B signaling pathway_Homo sapiens_hsa040640.78456479
93Mineral absorption_Homo sapiens_hsa049780.77116666
94Adherens junction_Homo sapiens_hsa045200.76612141
95TGF-beta signaling pathway_Homo sapiens_hsa043500.76205710
96Prion diseases_Homo sapiens_hsa050200.75530461
97Estrogen signaling pathway_Homo sapiens_hsa049150.75391396
98Hematopoietic cell lineage_Homo sapiens_hsa046400.75192526
99Serotonergic synapse_Homo sapiens_hsa047260.75052965
100Colorectal cancer_Homo sapiens_hsa052100.74871060
101Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.72991904
102Morphine addiction_Homo sapiens_hsa050320.72674077
103Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.72538417
104Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.72510499
105Amoebiasis_Homo sapiens_hsa051460.70501988
106Circadian entrainment_Homo sapiens_hsa047130.69812822
107* Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.68592607
108Alcoholism_Homo sapiens_hsa050340.66539791
109Primary immunodeficiency_Homo sapiens_hsa053400.65381647
110Allograft rejection_Homo sapiens_hsa053300.64884800
111Protein digestion and absorption_Homo sapiens_hsa049740.64644791
112Vibrio cholerae infection_Homo sapiens_hsa051100.63295241
113Autoimmune thyroid disease_Homo sapiens_hsa053200.62102653
114Viral myocarditis_Homo sapiens_hsa054160.61732665
115Prostate cancer_Homo sapiens_hsa052150.59963709
116Glioma_Homo sapiens_hsa052140.59838183
117Antigen processing and presentation_Homo sapiens_hsa046120.59352388
118Sphingolipid metabolism_Homo sapiens_hsa006000.59242740
119Thyroid hormone signaling pathway_Homo sapiens_hsa049190.58880643
120Primary bile acid biosynthesis_Homo sapiens_hsa001200.58750905
121* Hepatitis C_Homo sapiens_hsa051600.58315675
122AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.57005871
123Transcriptional misregulation in cancer_Homo sapiens_hsa052020.55929579
124Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.55083522
125Ras signaling pathway_Homo sapiens_hsa040140.54263818
126Regulation of actin cytoskeleton_Homo sapiens_hsa048100.53903368
127Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.53686449
128GABAergic synapse_Homo sapiens_hsa047270.53568370
129Axon guidance_Homo sapiens_hsa043600.53505339
130Chronic myeloid leukemia_Homo sapiens_hsa052200.52707137
131Epstein-Barr virus infection_Homo sapiens_hsa051690.52442261
132FoxO signaling pathway_Homo sapiens_hsa040680.50742704
133Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.50129085
134Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.49878790
135AMPK signaling pathway_Homo sapiens_hsa041520.49268450
136Histidine metabolism_Homo sapiens_hsa003400.48310273
137Butanoate metabolism_Homo sapiens_hsa006500.47459079
138Galactose metabolism_Homo sapiens_hsa000520.45937896
139Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.45917374
140Glutamatergic synapse_Homo sapiens_hsa047240.45739579
141Phenylalanine metabolism_Homo sapiens_hsa003600.42823790
142Pathways in cancer_Homo sapiens_hsa052000.42409893
143Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.42257704
144Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.42167240
145Insulin secretion_Homo sapiens_hsa049110.39960955
146Wnt signaling pathway_Homo sapiens_hsa043100.39498753
147Peroxisome_Homo sapiens_hsa041460.38012705
148Cysteine and methionine metabolism_Homo sapiens_hsa002700.37556135
149Tyrosine metabolism_Homo sapiens_hsa003500.36062532
150Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.36046628
151Melanogenesis_Homo sapiens_hsa049160.35106604
152Arachidonic acid metabolism_Homo sapiens_hsa005900.34940514
153HTLV-I infection_Homo sapiens_hsa051660.33747515
154cGMP-PKG signaling pathway_Homo sapiens_hsa040220.33302664
155PI3K-Akt signaling pathway_Homo sapiens_hsa041510.32433209
156alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.31731371
157mRNA surveillance pathway_Homo sapiens_hsa030150.29238596
158Gastric acid secretion_Homo sapiens_hsa049710.27878453
159Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.27753566
160Linoleic acid metabolism_Homo sapiens_hsa005910.27570246
161* Leukocyte transendothelial migration_Homo sapiens_hsa046700.25190636
162Amphetamine addiction_Homo sapiens_hsa050310.23795379
163Pancreatic cancer_Homo sapiens_hsa052120.23278914
164Ovarian steroidogenesis_Homo sapiens_hsa049130.21792839
165ECM-receptor interaction_Homo sapiens_hsa045120.21476083
166Steroid biosynthesis_Homo sapiens_hsa001000.19385186
167RNA degradation_Homo sapiens_hsa030180.19217264
168Arginine and proline metabolism_Homo sapiens_hsa003300.18469827
169TNF signaling pathway_Homo sapiens_hsa046680.17318743
170Bladder cancer_Homo sapiens_hsa052190.17229890
171Rap1 signaling pathway_Homo sapiens_hsa040150.16910561
172Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.16624332
173Proteoglycans in cancer_Homo sapiens_hsa052050.16623279
174Neurotrophin signaling pathway_Homo sapiens_hsa047220.15814713
175Pyruvate metabolism_Homo sapiens_hsa006200.14023952
176Folate biosynthesis_Homo sapiens_hsa007900.12687659
177Longevity regulating pathway - mammal_Homo sapiens_hsa042110.11798264
178Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.11532278

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