LOXHD1

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 highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pentose metabolic process (GO:0019321)8.16941566
2hair cell differentiation (GO:0035315)7.75347427
3inner ear receptor cell differentiation (GO:0060113)7.59479039
4axonemal dynein complex assembly (GO:0070286)7.31432942
5cilium or flagellum-dependent cell motility (GO:0001539)6.91799402
6sperm motility (GO:0030317)6.91144398
7synaptonemal complex organization (GO:0070193)6.42297958
8synaptonemal complex assembly (GO:0007130)6.41829276
9acrosome reaction (GO:0007340)6.27831214
10piRNA metabolic process (GO:0034587)6.10113223
11negative regulation of retinoic acid receptor signaling pathway (GO:0048387)5.92348475
12mechanoreceptor differentiation (GO:0042490)5.90054510
13righting reflex (GO:0060013)5.88154262
14diterpenoid biosynthetic process (GO:0016102)5.86712392
15motile cilium assembly (GO:0044458)5.81833099
16male meiosis (GO:0007140)5.80538873
17microtubule depolymerization (GO:0007019)5.79491634
18acrosome assembly (GO:0001675)5.61929603
19fusion of sperm to egg plasma membrane (GO:0007342)5.59255508
20antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.35196576
21cilium movement (GO:0003341)5.34530048
22sperm-egg recognition (GO:0035036)5.29184421
23spermatid development (GO:0007286)5.26398663
24epithelial cilium movement (GO:0003351)5.08014144
25cell wall macromolecule catabolic process (GO:0016998)5.07379758
26cell wall macromolecule metabolic process (GO:0044036)5.07379758
27multicellular organism reproduction (GO:0032504)5.06606345
28neutrophil activation involved in immune response (GO:0002283)4.94885323
29binding of sperm to zona pellucida (GO:0007339)4.71901350
30male meiosis I (GO:0007141)4.70429394
31cell-cell recognition (GO:0009988)4.62154367
32inner ear morphogenesis (GO:0042472)4.60624242
33regulation of retinoic acid receptor signaling pathway (GO:0048385)4.58412225
34detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.53941763
35muscle organ morphogenesis (GO:0048644)4.53493570
36negative regulation of inclusion body assembly (GO:0090084)4.52560480
37reproduction (GO:0000003)4.51004898
38protein targeting to Golgi (GO:0000042)4.44151408
39epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.38509580
40* sensory perception of sound (GO:0007605)4.38218518
41chromosome organization involved in meiosis (GO:0070192)4.37429585
42retrograde transport, vesicle recycling within Golgi (GO:0000301)4.35805554
43regulation of cilium movement (GO:0003352)4.34401531
44establishment of protein localization to Golgi (GO:0072600)4.34328052
45modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.30979878
46positive regulation by organism of defense response of other organism involved in symbiotic interact4.30979878
47modulation by symbiont of host immune response (GO:0052553)4.30979878
48positive regulation by symbiont of host defense response (GO:0052509)4.30979878
49modulation by symbiont of host defense response (GO:0052031)4.30979878
50modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.30979878
51* sensory perception of mechanical stimulus (GO:0050954)4.29938590
52face development (GO:0060324)4.27829420
53regulation of T-helper 2 cell differentiation (GO:0045628)4.19355494
54meiosis I (GO:0007127)4.16916230
55DNA methylation involved in gamete generation (GO:0043046)4.13993965
56plasma membrane fusion (GO:0045026)4.02927342
57meiotic nuclear division (GO:0007126)4.01489279
58positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)4.00146580
59female gonad development (GO:0008585)3.90134888
60terpenoid biosynthetic process (GO:0016114)3.85867472
61leukocyte migration involved in inflammatory response (GO:0002523)3.84553558
62cellular extravasation (GO:0045123)3.80528413
63genitalia morphogenesis (GO:0035112)3.79913441
64spermatogenesis (GO:0007283)3.75019684
65male gamete generation (GO:0048232)3.74246536
66positive regulation of mast cell activation (GO:0033005)3.73617143
67neutrophil activation (GO:0042119)3.72118379
68macrophage activation involved in immune response (GO:0002281)3.69691009
69retinal metabolic process (GO:0042574)3.62752489
70positive regulation of gamma-delta T cell activation (GO:0046645)3.61924332
71gamete generation (GO:0007276)3.54074234
72synaptic vesicle exocytosis (GO:0016079)3.53706219
73microglial cell activation (GO:0001774)3.53619039
74phosphatidylethanolamine biosynthetic process (GO:0006646)3.51875930
75RNA destabilization (GO:0050779)3.50740697
76meiotic cell cycle process (GO:1903046)3.44818808
77ventricular system development (GO:0021591)3.44409726
78regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.40478035
79thrombin receptor signaling pathway (GO:0070493)3.36676840
80regulation of gamma-delta T cell activation (GO:0046643)3.35599189
81DNA packaging (GO:0006323)3.34118209
82chromosome condensation (GO:0030261)3.32171859
83myeloid cell activation involved in immune response (GO:0002275)3.29666350
84granulocyte activation (GO:0036230)3.27018824
85response to peptidoglycan (GO:0032494)3.26821723
86positive regulation of type 2 immune response (GO:0002830)3.25857167
87single fertilization (GO:0007338)3.25503140
88positive regulation of Rab GTPase activity (GO:0032851)3.25205826
89regulation of Rab GTPase activity (GO:0032313)3.25205826
90cranial nerve development (GO:0021545)3.24649171
91detection of molecule of bacterial origin (GO:0032490)3.24370442
92phosphatidylethanolamine metabolic process (GO:0046337)3.23823027
93regulation of meiosis I (GO:0060631)3.23553044
94histone H3-K9 demethylation (GO:0033169)3.23519893
95reflex (GO:0060004)3.18601647
96dorsal/ventral neural tube patterning (GO:0021904)3.16435920
97endocardial cushion morphogenesis (GO:0003203)3.15880449
98cellular process involved in reproduction in multicellular organism (GO:0022412)3.15681374
99bone trabecula formation (GO:0060346)3.15604057
100regulation of gamma-delta T cell differentiation (GO:0045586)3.15026798
101fertilization (GO:0009566)3.11696866
102protein K6-linked ubiquitination (GO:0085020)3.09642888
103lung-associated mesenchyme development (GO:0060484)3.09417146
104response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.09404949
105response to host immune response (GO:0052572)3.09404949
106regulation of mast cell degranulation (GO:0043304)3.08903411
107negative regulation of cAMP-mediated signaling (GO:0043951)3.08612492
108microtubule polymerization or depolymerization (GO:0031109)3.07924601
109protein polyglutamylation (GO:0018095)3.07904565
110meiotic cell cycle (GO:0051321)3.07830628
111calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)3.07045002
112centriole replication (GO:0007099)3.06115924
113leukocyte degranulation (GO:0043299)3.05419247
114mitotic metaphase plate congression (GO:0007080)3.04470341
115left/right axis specification (GO:0070986)3.04109038
116epithelial cell fate commitment (GO:0072148)3.04070183
117meiotic chromosome segregation (GO:0045132)3.04007909
118sperm capacitation (GO:0048240)3.03442938
119germ cell development (GO:0007281)3.02517451
120positive regulation of mast cell activation involved in immune response (GO:0033008)3.02509994
121positive regulation of mast cell degranulation (GO:0043306)3.02509994
122regulation of B cell receptor signaling pathway (GO:0050855)3.02350119
123regulation of inclusion body assembly (GO:0090083)3.01225018
124regulation of mast cell activation (GO:0033003)3.00264690
125histone exchange (GO:0043486)2.96492803
126regulation of mast cell activation involved in immune response (GO:0033006)2.95401143
127detection of other organism (GO:0098543)2.94185153
128macrophage activation (GO:0042116)2.93812831
129calcium ion-dependent exocytosis (GO:0017156)2.93042638
130monoubiquitinated protein deubiquitination (GO:0035520)2.92414033
131centriole assembly (GO:0098534)2.92387978
132regulation of interferon-beta biosynthetic process (GO:0045357)2.92154489
133negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.91497308
134protein localization to Golgi apparatus (GO:0034067)2.90030641
135negative regulation of cell killing (GO:0031342)2.89851404
136negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.89851404
137microtubule severing (GO:0051013)2.87693011
138negative regulation of cell fate specification (GO:0009996)2.86698413
139retinal ganglion cell axon guidance (GO:0031290)2.86103813
140protein localization to chromosome, centromeric region (GO:0071459)2.85874236
141mast cell activation (GO:0045576)2.82865281
142vitamin transmembrane transport (GO:0035461)2.81083394
143mitotic sister chromatid cohesion (GO:0007064)2.78659988
144regulation of transforming growth factor beta2 production (GO:0032909)2.77089425
145response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.76936519
146response to host (GO:0075136)2.76936519
147response to host defenses (GO:0052200)2.76936519
148positive regulation of endothelial cell differentiation (GO:0045603)2.74965128
149microtubule nucleation (GO:0007020)2.73077381
150multicellular organismal reproductive process (GO:0048609)2.72505404
151peptide catabolic process (GO:0043171)2.72319208
152termination of G-protein coupled receptor signaling pathway (GO:0038032)2.71371401
153negative regulation of heart contraction (GO:0045822)2.71311315
154response to pheromone (GO:0019236)2.71245893
155regulation of platelet aggregation (GO:0090330)2.69858526
156detection of external biotic stimulus (GO:0098581)2.69446959
157termination of signal transduction (GO:0023021)2.66107216
158negative regulation of interleukin-12 production (GO:0032695)2.64383682
159negative regulation of erythrocyte differentiation (GO:0045647)2.64121372
160drinking behavior (GO:0042756)2.62150656
161aorta morphogenesis (GO:0035909)2.61721557
162left/right pattern formation (GO:0060972)2.61207765
163single strand break repair (GO:0000012)2.61058364
164DNA synthesis involved in DNA repair (GO:0000731)2.58973315
165spermatid nucleus differentiation (GO:0007289)2.57943273
166reciprocal meiotic recombination (GO:0007131)2.57571449
167reciprocal DNA recombination (GO:0035825)2.57571449
168positive regulation of vascular permeability (GO:0043117)2.57027193
169sexual reproduction (GO:0019953)2.56399832
170resolution of meiotic recombination intermediates (GO:0000712)2.54638117
171auditory receptor cell differentiation (GO:0042491)12.4714931

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse5.65122452
2EZH2_22144423_ChIP-Seq_EOC_Human5.10539500
3CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.92403065
4ZFP322A_24550733_ChIP-Seq_MESCs_Mouse3.08063519
5GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.79774697
6FOXM1_23109430_ChIP-Seq_U2OS_Human2.73959624
7* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.56801899
8SCL_19346495_ChIP-Seq_HPC-7_Human2.52598069
9IRF8_22096565_ChIP-ChIP_GC-B_Human2.44029121
10SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.43523148
11TP63_17297297_ChIP-ChIP_HaCaT_Human2.35590413
12BP1_19119308_ChIP-ChIP_Hs578T_Human2.33742342
13RUNX_20019798_ChIP-Seq_JUKART_Human2.32869481
14E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.29952937
15STAT6_21828071_ChIP-Seq_BEAS2B_Human2.19432158
16FLI1_27457419_Chip-Seq_LIVER_Mouse2.15366791
17IRF8_21731497_ChIP-ChIP_J774_Mouse2.10141162
18STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.07361157
19TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.07128037
20KAP1_22055183_ChIP-Seq_ESCs_Mouse2.06459113
21SPI1_23127762_ChIP-Seq_K562_Human2.05217267
22VDR_22108803_ChIP-Seq_LS180_Human2.04140111
23POU5F1_26923725_Chip-Seq_MESODERM_Mouse2.02904131
24TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.02904131
25TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.99196546
26BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.94090672
27KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.93804210
28MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.93460976
29FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.92592356
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.90398644
31PCGF2_27294783_Chip-Seq_ESCs_Mouse1.89702671
32MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.87689192
33* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.87461167
34IRF8_27001747_Chip-Seq_BMDM_Mouse1.79299986
35STAT1_17558387_ChIP-Seq_HELA_Human1.69334486
36GATA1_19941826_ChIP-Seq_K562_Human1.59597238
37CBX2_27304074_Chip-Seq_ESCs_Mouse1.55581726
38SUZ12_27294783_Chip-Seq_NPCs_Mouse1.53860878
39MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.51781075
40CTBP1_25329375_ChIP-Seq_LNCAP_Human1.48419682
41AR_21909140_ChIP-Seq_LNCAP_Human1.48392934
42GATA1_26923725_Chip-Seq_HPCs_Mouse1.48382905
43WDR5_24793694_ChIP-Seq_LNCAP_Human1.48130033
44LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.47653134
45SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.46631919
46GATA1_19941827_ChIP-Seq_MEL_Mouse1.46145261
47PKCTHETA_26484144_Chip-Seq_BREAST_Human1.44249668
48EZH2_27294783_Chip-Seq_ESCs_Mouse1.43100530
49NFE2_27457419_Chip-Seq_LIVER_Mouse1.42632393
50VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.41132893
51FUS_26573619_Chip-Seq_HEK293_Human1.40655985
52RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.40322826
53VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.39318618
54THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.39058963
55TAL1_26923725_Chip-Seq_HPCs_Mouse1.37026707
56* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.35617479
57ZFP57_27257070_Chip-Seq_ESCs_Mouse1.33401353
58* KDM2B_26808549_Chip-Seq_REH_Human1.32963378
59KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.32707469
60RNF2_27304074_Chip-Seq_NSC_Mouse1.32554250
61TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.31226235
62LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.29867617
63PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.28777157
64TBL1_22424771_ChIP-Seq_293T_Human1.28659498
65SMRT_27268052_Chip-Seq_Bcells_Human1.27940677
66VDR_24763502_ChIP-Seq_THP-1_Human1.27694229
67AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.27537463
68* REST_21632747_ChIP-Seq_MESCs_Mouse1.26652636
69Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.26552514
70NANOG_18555785_Chip-Seq_ESCs_Mouse1.25494466
71GATA2_19941826_ChIP-Seq_K562_Human1.25360291
72SUZ12_27294783_Chip-Seq_ESCs_Mouse1.25237145
73ZNF274_21170338_ChIP-Seq_K562_Hela1.25125942
74TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21938030
75MYB_26560356_Chip-Seq_TH2_Human1.20596136
76GATA3_27048872_Chip-Seq_THYMUS_Human1.19781011
77IKZF1_21737484_ChIP-ChIP_HCT116_Human1.17870810
78FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.16836450
79BMI1_23680149_ChIP-Seq_NPCS_Mouse1.16616203
80PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.14787653
81STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.14766070
82* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.14463215
83SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.14374694
84NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.13683171
85GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13573902
86GATA1_19941827_ChIP-Seq_MEL86_Mouse1.13161526
87IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.12075479
88CBP_20019798_ChIP-Seq_JUKART_Human1.12075479
89UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.11682451
90CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.11591314
91ETV1_20927104_ChIP-Seq_GIST48_Human1.11206216
92EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.10837733
93* NANOG_20526341_ChIP-Seq_ESCs_Human1.10654423
94BCL6_27268052_Chip-Seq_Bcells_Human1.10639846
95PCGF2_27294783_Chip-Seq_NPCs_Mouse1.10392637
96TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.09979416
97CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.09509451
98IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.09299348
99VDR_24787735_ChIP-Seq_THP-1_Human1.08815671
100SALL1_21062744_ChIP-ChIP_HESCs_Human1.08070452
101GF1_26923725_Chip-Seq_HPCs_Mouse1.07408978
102ER_23166858_ChIP-Seq_MCF-7_Human1.07256385
103PIAS1_25552417_ChIP-Seq_VCAP_Human1.07153654
104RNF2_27304074_Chip-Seq_ESCs_Mouse1.06685601
105MYB_21317192_ChIP-Seq_ERMYB_Mouse1.06001409
106RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.05964201
107GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.05434381
108EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.04936746
109EZH2_27294783_Chip-Seq_NPCs_Mouse1.04560686
110* DROSHA_22980978_ChIP-Seq_HELA_Human1.04418193
111EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.04066040
112KLF4_18555785_Chip-Seq_ESCs_Mouse1.04055491
113SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.03686741
114ELK4_26923725_Chip-Seq_MESODERM_Mouse1.03663683
115TCF7_22412390_ChIP-Seq_EML_Mouse1.03635405
116* CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.03447180
117GATA2_21666600_ChIP-Seq_HMVEC_Human1.02716208
118OCT4_18555785_Chip-Seq_ESCs_Mouse1.01624215
119RAC3_21632823_ChIP-Seq_H3396_Human1.00708005
120SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.99745947
121CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.99511973
122SMAD3_21741376_ChIP-Seq_ESCs_Human0.99116639
123AHR_22903824_ChIP-Seq_MCF-7_Human0.98705386
124NFYA_21822215_ChIP-Seq_K562_Human0.98442352
125OCT4_21477851_ChIP-Seq_ESCs_Mouse0.98377670
126TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.98040760
127SPI1_20517297_ChIP-Seq_HL60_Human0.98022990
128CRX_20693478_ChIP-Seq_RETINA_Mouse0.97955776
129ARNT_22903824_ChIP-Seq_MCF-7_Human0.97904627
130GATA3_26560356_Chip-Seq_TH2_Human0.97895495
131GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.97556936
132CTCF_27219007_Chip-Seq_Bcells_Human0.97478455
133* CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97077963
134STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.97064353
135P53_22387025_ChIP-Seq_ESCs_Mouse0.96994641
136PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.96898026
137BCOR_27268052_Chip-Seq_Bcells_Human0.96554208
138RBPJ_21746931_ChIP-Seq_IB4_Human0.96516135
139ZNF217_24962896_ChIP-Seq_MCF-7_Human0.96458848
140ELF1_20517297_ChIP-Seq_JURKAT_Human0.96307713
141NFYB_21822215_ChIP-Seq_K562_Human0.96264291
142OCT1_27270436_Chip-Seq_PROSTATE_Human0.95878383
143PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.95145097
144PHF8_20622853_ChIP-Seq_HELA_Human0.95007891
145TCF4_18268006_ChIP-ChIP_LS174T_Human0.93582397
146MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.92908086
147EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.92900289
148NMYC_18555785_Chip-Seq_ESCs_Mouse0.92850474
149IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.92678042
150MYB_26560356_Chip-Seq_TH1_Human0.92004623
151AR_25329375_ChIP-Seq_VCAP_Human0.91781468
152PRDM14_20953172_ChIP-Seq_ESCs_Human0.91757768
153GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.91271671
154RUNX1_26923725_Chip-Seq_HPCs_Mouse0.91244514
155NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.91214344
156OCT4_20526341_ChIP-Seq_ESCs_Human0.90982257
157TP63_22573176_ChIP-Seq_HFKS_Human0.90680348
158E2F1_18555785_Chip-Seq_ESCs_Mouse0.90680308
159GATA1_22025678_ChIP-Seq_K562_Human0.90664117
160FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.90645165
161ESRRB_18555785_Chip-Seq_ESCs_Mouse0.90501077
162TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.89808125
163SOX2_22085726_ChIP-Seq_NPCs_Mouse0.89721065
164* EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.89678172
165NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.89345287
166MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.89239488
167RING1B_27294783_Chip-Seq_ESCs_Mouse0.88768850
168CMYC_18555785_Chip-Seq_ESCs_Mouse0.88633030
169KDM2B_26808549_Chip-Seq_SUP-B15_Human0.88362319
170P300_27268052_Chip-Seq_Bcells_Human0.87129273
171UTX_26944678_Chip-Seq_JUKART_Human0.87035898
172SMAD4_21741376_ChIP-Seq_EPCs_Human0.87015618
173SUZ12_18555785_Chip-Seq_ESCs_Mouse0.86909167
174ERG_20517297_ChIP-Seq_VCAP_Human0.85966109
175CEBPB_22108803_ChIP-Seq_LS180_Human0.84728868
176* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.84679384
177TAF2_19829295_ChIP-Seq_ESCs_Human0.84623151
178ERA_21632823_ChIP-Seq_H3396_Human0.84218333
179EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.84049609
180GATA3_21878914_ChIP-Seq_MCF-7_Human0.83598961
181GBX2_23144817_ChIP-Seq_PC3_Human0.82862202
182* RUNX1_22412390_ChIP-Seq_EML_Mouse0.79989570
183PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.79916624

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003878_abnormal_ear_physiology8.58182399
2MP0005377_hearing/vestibular/ear_phenot8.58182399
3MP0003879_abnormal_hair_cell8.45531640
4MP0001485_abnormal_pinna_reflex8.05997562
5MP0003724_increased_susceptibility_to3.69270586
6MP0005410_abnormal_fertilization3.53133741
7MP0005464_abnormal_platelet_physiology3.45044390
8* MP0000026_abnormal_inner_ear3.41699062
9* MP0001963_abnormal_hearing_physiology2.87889656
10MP0004742_abnormal_vestibular_system2.80962034
11MP0003436_decreased_susceptibility_to2.77115078
12* MP0001486_abnormal_startle_reflex2.71530965
13MP0003303_peritoneal_inflammation2.69235145
14MP0009278_abnormal_bone_marrow2.55748132
15MP0001835_abnormal_antigen_presentation2.44717842
16MP0005248_abnormal_Harderian_gland2.28007564
17MP0002132_abnormal_respiratory_system2.12763971
18MP0002102_abnormal_ear_morphology2.11866131
19MP0004510_myositis2.08680485
20MP0008004_abnormal_stomach_pH2.05695170
21MP0003941_abnormal_skin_development2.00795737
22MP0008877_abnormal_DNA_methylation2.00594500
23MP0002653_abnormal_ependyma_morphology1.99284204
24MP0002419_abnormal_innate_immunity1.97862990
25MP0003938_abnormal_ear_development1.97308518
26MP0003172_abnormal_lysosome_physiology1.89240619
27MP0003828_pulmonary_edema1.82095088
28MP0005397_hematopoietic_system_phenotyp1.81848097
29MP0001545_abnormal_hematopoietic_system1.81848097
30MP0005000_abnormal_immune_tolerance1.73239713
31MP0009764_decreased_sensitivity_to1.73218894
32MP0003656_abnormal_erythrocyte_physiolo1.71705377
33MP0003698_abnormal_male_reproductive1.70430881
34MP0001533_abnormal_skeleton_physiology1.68308184
35MP0001800_abnormal_humoral_immune1.66438841
36MP0001929_abnormal_gametogenesis1.64541504
37MP0005025_abnormal_response_to1.59611910
38MP0002723_abnormal_immune_serum1.59115328
39MP0005379_endocrine/exocrine_gland_phen1.50104934
40MP0005310_abnormal_salivary_gland1.48312932
41MP0002452_abnormal_antigen_presenting1.44917156
42MP0005671_abnormal_response_to1.43959791
43MP0009785_altered_susceptibility_to1.42734573
44MP0002420_abnormal_adaptive_immunity1.37343270
45MP0001790_abnormal_immune_system1.34985594
46MP0005387_immune_system_phenotype1.34985594
47MP0001819_abnormal_immune_cell1.34983605
48MP0005499_abnormal_olfactory_system1.33408189
49MP0005394_taste/olfaction_phenotype1.33408189
50MP0002210_abnormal_sex_determination1.30999790
51MP0002148_abnormal_hypersensitivity_rea1.27849189
52MP0003693_abnormal_embryo_hatching1.27459615
53MP0005167_abnormal_blood-brain_barrier1.27453198
54MP0006276_abnormal_autonomic_nervous1.26719340
55MP0000685_abnormal_immune_system1.26520762
56MP0000465_gastrointestinal_hemorrhage1.25643133
57MP0002163_abnormal_gland_morphology1.21412420
58MP0002398_abnormal_bone_marrow1.20815449
59MP0003111_abnormal_nucleus_morphology1.17647376
60MP0008995_early_reproductive_senescence1.12380702
61MP0004142_abnormal_muscle_tone1.12318200
62MP0003787_abnormal_imprinting1.11623497
63MP0004947_skin_inflammation1.11397249
64MP0002161_abnormal_fertility/fecundity1.10868888
65MP0001348_abnormal_lacrimal_gland1.10210083
66MP0003123_paternal_imprinting1.07764948
67MP0002998_abnormal_bone_remodeling1.07259286
68MP0001849_ear_inflammation1.06757830
69MP0005666_abnormal_adipose_tissue1.06744525
70MP0002405_respiratory_system_inflammati1.05958411
71MP0004883_abnormal_blood_vessel1.05267475
72MP0004484_altered_response_of1.05114324
73MP0000716_abnormal_immune_system1.05031713
74MP0001145_abnormal_male_reproductive1.00434560
75MP0001346_abnormal_lacrimal_gland1.00285362
76MP0005083_abnormal_biliary_tract0.99381009
77MP0008961_abnormal_basal_metabolism0.97995448
78MP0000230_abnormal_systemic_arterial0.97732074
79MP0000678_abnormal_parathyroid_gland0.97668337
80MP0005623_abnormal_meninges_morphology0.95849400
81MP0002332_abnormal_exercise_endurance0.95830540
82MP0006082_CNS_inflammation0.95763181
83MP0000383_abnormal_hair_follicle0.94373309
84MP0002277_abnormal_respiratory_mucosa0.94232296
85MP0000653_abnormal_sex_gland0.93358488
86MP0003866_abnormal_defecation0.92685933
87MP0003646_muscle_fatigue0.90438397
88MP0001845_abnormal_inflammatory_respons0.90215858
89MP0010678_abnormal_skin_adnexa0.89714811
90MP0002722_abnormal_immune_system0.88609556
91MP0009115_abnormal_fat_cell0.87727426
92MP0001765_abnormal_ion_homeostasis0.86683657
93MP0000249_abnormal_blood_vessel0.85692330
94MP0008057_abnormal_DNA_replication0.85611428
95* MP0002752_abnormal_somatic_nervous0.85501938
96MP0009765_abnormal_xenobiotic_induced0.85406179
97MP0002429_abnormal_blood_cell0.85191090
98MP0005451_abnormal_body_composition0.85174923
99MP0004808_abnormal_hematopoietic_stem0.84847870
100MP0005164_abnormal_response_to0.84395147
101MP0008058_abnormal_DNA_repair0.83971912
102MP0005166_decreased_susceptibility_to0.83077711
103MP0004130_abnormal_muscle_cell0.82609447
104MP0010155_abnormal_intestine_physiology0.81893174
105MP0001502_abnormal_circadian_rhythm0.81016911
106MP0000689_abnormal_spleen_morphology0.80499875
107MP0003718_maternal_effect0.79124009
108MP0009333_abnormal_splenocyte_physiolog0.78725932
109MP0005535_abnormal_body_temperature0.77453652
110MP0003786_premature_aging0.76598066
111MP0003300_gastrointestinal_ulcer0.75854193
112MP0002249_abnormal_larynx_morphology0.75774534
113MP0008260_abnormal_autophagy0.75562448
114MP0003077_abnormal_cell_cycle0.75412510
115MP0000703_abnormal_thymus_morphology0.75068371
116MP0005409_darkened_coat_color0.74167591
117MP0005390_skeleton_phenotype0.73560144
118MP0000566_synostosis0.72624133
119MP0003183_abnormal_peptide_metabolism0.71775265
120MP0002233_abnormal_nose_morphology0.71560634
121MP0002822_catalepsy0.71211141
122MP0001968_abnormal_touch/_nociception0.71051438
123MP0000343_altered_response_to0.70390420
124MP0002184_abnormal_innervation0.68825825
125MP0009053_abnormal_anal_canal0.68726559
126MP0002282_abnormal_trachea_morphology0.68690582
127MP0001851_eye_inflammation0.68666778
128MP0008874_decreased_physiological_sensi0.68653503
129MP0000569_abnormal_digit_pigmentation0.68400657
130MP0003191_abnormal_cellular_cholesterol0.67657734
131MP0003075_altered_response_to0.67645514
132MP0003890_abnormal_embryonic-extraembry0.67498163
133MP0000534_abnormal_ureter_morphology0.66508098
134MP0010094_abnormal_chromosome_stability0.64751105
135MP0000579_abnormal_nail_morphology0.61108014
136MP0003942_abnormal_urinary_system0.60744284
137MP0009384_cardiac_valve_regurgitation0.60205966
138MP0000049_abnormal_middle_ear0.59920555
139MP0000613_abnormal_salivary_gland0.59313550
140MP0001727_abnormal_embryo_implantation0.59211616
141MP0008007_abnormal_cellular_replicative0.56416785
142MP0010030_abnormal_orbit_morphology0.52943383
143MP0010234_abnormal_vibrissa_follicle0.52094514
144MP0003937_abnormal_limbs/digits/tail_de0.50562634
145MP0004885_abnormal_endolymph0.48434498
146MP0006072_abnormal_retinal_apoptosis0.48012111
147MP0004381_abnormal_hair_follicle0.47453590
148MP0000762_abnormal_tongue_morphology0.47332721
149MP0004957_abnormal_blastocyst_morpholog0.46029269
150MP0003121_genomic_imprinting0.45893943
151MP0003755_abnormal_palate_morphology0.45366025
152MP0005647_abnormal_sex_gland0.45146687
153MP0010352_gastrointestinal_tract_polyps0.44164295
154MP0005395_other_phenotype0.43832729
155* MP0002882_abnormal_neuron_morphology0.43567388
156MP0002085_abnormal_embryonic_tissue0.42956439
157MP0003136_yellow_coat_color0.42421178
158MP0009250_abnormal_appendicular_skeleto0.41152898
159MP0001286_abnormal_eye_development0.40743703
160MP0000432_abnormal_head_morphology0.39318583
161MP0008789_abnormal_olfactory_epithelium0.38651983
162MP0008932_abnormal_embryonic_tissue0.38636597
163MP0002084_abnormal_developmental_patter0.38519137
164MP0005645_abnormal_hypothalamus_physiol0.38404843
165MP0003861_abnormal_nervous_system0.38344971
166MP0003119_abnormal_digestive_system0.36922140
167MP0002116_abnormal_craniofacial_bone0.36573118
168MP0002067_abnormal_sensory_capabilities0.35971404
169* MP0002229_neurodegeneration0.35806276
170MP0003699_abnormal_female_reproductive0.34337006
171MP0000631_abnormal_neuroendocrine_gland0.34024082
172MP0005670_abnormal_white_adipose0.33965618
173MP0003115_abnormal_respiratory_system0.33231812
174MP0001730_embryonic_growth_arrest0.32920358
175MP0002177_abnormal_outer_ear0.31742842
176MP0004019_abnormal_vitamin_homeostasis0.31328286
177MP0001119_abnormal_female_reproductive0.31260693
178MP0003936_abnormal_reproductive_system0.30308123
179MP0003935_abnormal_craniofacial_develop0.29726270
180MP0001340_abnormal_eyelid_morphology0.29335853
181MP0000647_abnormal_sebaceous_gland0.28407854
182MP0005076_abnormal_cell_differentiation0.28402205
183MP0000350_abnormal_cell_proliferation0.26699810
184MP0009046_muscle_twitch0.26667747
185MP0000490_abnormal_crypts_of0.26184558

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)8.38409557
2Abnormal auditory evoked potentials (HP:0006958)8.12160879
3Absent/shortened dynein arms (HP:0200106)7.48843291
4Dynein arm defect of respiratory motile cilia (HP:0012255)7.48843291
5Abnormal respiratory motile cilium physiology (HP:0012261)6.46127013
6Abnormal respiratory motile cilium morphology (HP:0005938)6.02506897
7Abnormal respiratory epithelium morphology (HP:0012253)6.02506897
8Prolonged bleeding time (HP:0003010)5.78811291
9Abnormal ciliary motility (HP:0012262)5.60511542
10Menorrhagia (HP:0000132)4.75278952
11Rhinitis (HP:0012384)4.69102357
12Congenital sensorineural hearing impairment (HP:0008527)4.57081979
13Lip pit (HP:0100267)4.40378467
14Severe visual impairment (HP:0001141)4.36065991
15Parkinsonism with favorable response to dopaminergic medication (HP:0002548)4.28850298
16Epistaxis (HP:0000421)4.18508874
17Gingival bleeding (HP:0000225)4.13361086
18Abnormal platelet volume (HP:0011876)4.05441838
19Myositis (HP:0100614)3.97194264
20Increased mean platelet volume (HP:0011877)3.87364493
21Optic neuritis (HP:0100653)3.83362403
22Retrobulbar optic neuritis (HP:0100654)3.83362403
23Petechiae (HP:0000967)3.80220803
24Chronic bronchitis (HP:0004469)3.79004739
25Orchitis (HP:0100796)3.74131655
26Recurrent bacterial skin infections (HP:0005406)3.73680685
27Recurrent abscess formation (HP:0002722)3.65540953
28Oligodactyly (hands) (HP:0001180)3.57672685
29Infertility (HP:0000789)3.55504294
30Oligodactyly (HP:0012165)3.55064097
31Purpura (HP:0000979)3.49622942
32Stomatitis (HP:0010280)3.41078227
33Abnormality of macrophages (HP:0004311)3.38359991
34Spontaneous hematomas (HP:0007420)3.30213183
35Gastrointestinal infarctions (HP:0005244)3.29205824
36Eczematoid dermatitis (HP:0000976)3.28106320
37Asymmetric septal hypertrophy (HP:0001670)3.07867935
38Bronchiectasis (HP:0002110)3.07371612
39Epiphyseal dysplasia (HP:0002656)3.07077127
40Elevated erythrocyte sedimentation rate (HP:0003565)2.97065902
41Nasal polyposis (HP:0100582)2.94585588
42Recurrent sinusitis (HP:0011108)2.92852867
43Gingivitis (HP:0000230)2.90672700
44Vitreoretinal degeneration (HP:0000655)2.80066840
45Postural instability (HP:0002172)2.73843058
46Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.72826008
47Male infertility (HP:0003251)2.70581649
48Severe Myopia (HP:0011003)2.68874856
49Peritonitis (HP:0002586)2.68593121
50Chronic obstructive pulmonary disease (HP:0006510)2.67926836
51Obstructive lung disease (HP:0006536)2.67926836
52Arterial thrombosis (HP:0004420)2.66000905
53Episodic fever (HP:0001954)2.65212704
54Keratoconjunctivitis sicca (HP:0001097)2.59881418
55Chromosomal breakage induced by crosslinking agents (HP:0003221)2.59526641
56Optic nerve hypoplasia (HP:0000609)2.59337100
57Cone-rod dystrophy (HP:0000548)2.59262365
58Patellar aplasia (HP:0006443)2.58707765
59Attenuation of retinal blood vessels (HP:0007843)2.56638576
60Recurrent gram-negative bacterial infections (HP:0005420)2.55438631
61Truncal obesity (HP:0001956)2.51621597
62Chronic hepatic failure (HP:0100626)2.51494538
63Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.50634098
64Impulsivity (HP:0100710)2.50602773
65Resting tremor (HP:0002322)2.47174981
66Encephalitis (HP:0002383)2.45091036
67Midline defect of the nose (HP:0004122)2.44807872
68Shawl scrotum (HP:0000049)2.44034372
69Keratoconjunctivitis (HP:0001096)2.41006364
70Abnormality of the labia minora (HP:0012880)2.38629918
71Facial hemangioma (HP:0000329)2.38091556
72Chest pain (HP:0100749)2.37909663
73Recurrent otitis media (HP:0000403)2.37497539
74Aplasia/Hypoplasia of the patella (HP:0006498)2.37293958
75Bicornuate uterus (HP:0000813)2.32352625
76Poikilocytosis (HP:0004447)2.31223419
77Hypoplasia of the thymus (HP:0000778)2.30666205
78Dislocated radial head (HP:0003083)2.29970850
79Progressive cerebellar ataxia (HP:0002073)2.29603352
80Portal hypertension (HP:0001409)2.29556883
81Nephronophthisis (HP:0000090)2.29382417
82Morphological abnormality of the middle ear (HP:0008609)2.29165643
83Hyperkalemia (HP:0002153)2.27747169
84Bony spicule pigmentary retinopathy (HP:0007737)2.26854505
85Absent epiphyses (HP:0010577)2.26782612
86Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.26782612
87Recurrent fungal infections (HP:0002841)2.24434140
88Periauricular skin pits (HP:0100277)2.22601340
89Preauricular pit (HP:0004467)2.22601340
90Aplasia/Hypoplasia affecting the fundus (HP:0008057)2.21314129
91Chromsome breakage (HP:0040012)2.20610686
92Abnormality of the pubic bones (HP:0003172)2.20576009
93Abnormality of midbrain morphology (HP:0002418)2.19110459
94Molar tooth sign on MRI (HP:0002419)2.19110459
95Abnormality of lateral ventricle (HP:0030047)2.18832818
96Recurrent skin infections (HP:0001581)2.18648973
97Pili torti (HP:0003777)2.18509952
98Bronchitis (HP:0012387)2.13546532
99Hyperlipoproteinemia (HP:0010980)2.12169252
100Abnormality of the radial head (HP:0003995)2.11237111
101Vasculitis (HP:0002633)2.09779994
102Abnormal platelet function (HP:0011869)2.09132122
103Impaired platelet aggregation (HP:0003540)2.09132122
104Meningitis (HP:0001287)2.08796607
105Genetic anticipation (HP:0003743)2.08661865
106Acanthocytosis (HP:0001927)2.08417253
107Popliteal pterygium (HP:0009756)2.07406672
108Decreased central vision (HP:0007663)2.07202334
109Aplasia/Hypoplasia of the sternum (HP:0006714)2.06254016
110Abnormality of the hepatic vasculature (HP:0006707)2.06024017
111Abnormality of the nasal mucosa (HP:0000433)2.05532515
112Vertigo (HP:0002321)2.05388015
113Abnormality of the dental pulp (HP:0006479)2.03254571
114Abnormality of the renal medulla (HP:0100957)2.03138436
115Morphological abnormality of the inner ear (HP:0011390)2.03073044
116Abnormal spermatogenesis (HP:0008669)2.02731878
117Irregular epiphyses (HP:0010582)2.02727002
118Abnormality of the aortic arch (HP:0012303)2.02305119
119Facial cleft (HP:0002006)2.01407592
120Abnormality of dentin (HP:0010299)2.00746148
121Abnormality of the fingertips (HP:0001211)2.00428750
122Flattened epiphyses (HP:0003071)2.00364844
123Leukocytosis (HP:0001974)1.99004859
124Enlarged epiphyses (HP:0010580)1.98915426
125Myocardial infarction (HP:0001658)1.98208282
126Abnormal rod and cone electroretinograms (HP:0008323)1.97292022
127Septo-optic dysplasia (HP:0100842)1.96723003
128Gonadotropin excess (HP:0000837)1.96104357
129Hemoptysis (HP:0002105)1.95603629
130Abnormality of the labia majora (HP:0012881)1.94658887
131Bruising susceptibility (HP:0000978)1.92628060
132Inflammation of the large intestine (HP:0002037)1.92320298
133Testicular neoplasm (HP:0010788)1.88712320
134Gangrene (HP:0100758)1.88471753
135Pterygium (HP:0001059)1.86139345
136Hypophosphatemic rickets (HP:0004912)1.84353705
137Bell-shaped thorax (HP:0001591)1.84179869
138Hypoplastic ischia (HP:0003175)1.83307133
139Amelogenesis imperfecta (HP:0000705)1.83201746
140Abnormal delayed hypersensitivity skin test (HP:0002963)1.83122536
141Renal dysplasia (HP:0000110)1.82602252
142Mixed hearing impairment (HP:0000410)1.81058579
143Prostate neoplasm (HP:0100787)1.81014019
144Menstrual irregularities (HP:0000858)1.80369218
145Hypochromic microcytic anemia (HP:0004840)1.80169907
146Amyloidosis (HP:0011034)1.78944072
147Duodenal stenosis (HP:0100867)1.78812089
148Small intestinal stenosis (HP:0012848)1.78812089
149Mediastinal lymphadenopathy (HP:0100721)1.78154888
150Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.77049329
151Breast aplasia (HP:0100783)1.76094184
152Meckel diverticulum (HP:0002245)1.74540017
153Aplasia/Hypoplasia of the uvula (HP:0010293)1.69974924
154Abnormality of the preputium (HP:0100587)1.68738973
155Azoospermia (HP:0000027)1.67770889
156Hypoplastic nipples (HP:0002557)1.67525691
157Tubulointerstitial nephritis (HP:0001970)1.65458071
158Carpal bone hypoplasia (HP:0001498)1.65059554
159Papillary thyroid carcinoma (HP:0002895)1.64050572
160Abnormality of permanent molar morphology (HP:0011071)1.61226982
161Abnormality of the dental root (HP:0006486)1.61226982
162Taurodontia (HP:0000679)1.61226982
163Abnormality of molar (HP:0011077)1.60770511
164Abnormality of molar morphology (HP:0011070)1.60770511
165Aplasia/Hypoplasia of the breasts (HP:0010311)1.60107625
166Selective tooth agenesis (HP:0001592)1.59532445
167Aplasia/Hypoplasia of the ulna (HP:0006495)1.59310158
168Chronic sinusitis (HP:0011109)1.59008620
169Absent eyebrow (HP:0002223)1.56828993
170Hypoplastic labia majora (HP:0000059)1.56800237
171Abnormality of the ileum (HP:0001549)1.55934574
172Mild short stature (HP:0003502)1.55872218
173Blepharitis (HP:0000498)1.52717296
174Microglossia (HP:0000171)1.52505134
175Short ribs (HP:0000773)1.52190972
176Aplasia involving forearm bones (HP:0009822)1.51766377
177Absent forearm bone (HP:0003953)1.51766377
178Premature rupture of membranes (HP:0001788)1.51481651
179Ventricular fibrillation (HP:0001663)1.51311754
180Synostosis of carpal bones (HP:0005048)1.51294943
181Abnormality of the lacrimal duct (HP:0011481)1.50082862
182Aplasia/Hypoplasia of the earlobes (HP:0009906)1.49496122

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK34.05142832
2PDK44.05142832
3EPHA23.73245506
4LATS13.61042937
5DDR23.49226600
6BUB13.32049774
7NEK22.80997002
8TEC2.73720326
9PIK3CG2.69222195
10EPHB12.54853093
11EPHA32.54578487
12LATS22.48128019
13PNCK2.47861611
14STK38L2.45790125
15MAPK152.40046295
16TESK12.31882968
17PRKD32.31436989
18PDK22.28675058
19WEE12.27478388
20BLK2.26462323
21MAP2K31.86195388
22STK31.75472562
23JAK31.73204434
24BTK1.72914020
25DYRK31.68983828
26PLK21.66391523
27IRAK41.66152390
28STK381.65139054
29CSK1.64062913
30GRK61.62860705
31BMPR21.61256800
32NME11.61126866
33TAOK31.60122095
34ZAP701.59746719
35SYK1.57577747
36TNK21.57354103
37PDPK11.51167024
38SIK31.50284511
39FES1.45358461
40ICK1.44298761
41MAP3K71.43091850
42MARK31.42065396
43MAP4K11.37524170
44RPS6KA41.37119801
45TXK1.35368693
46DYRK1B1.34289238
47IRAK11.33322191
48INSRR1.32217732
49SRPK11.31858003
50CDC71.30282307
51BRSK21.27326067
52ADRBK21.26748948
53HCK1.23945336
54FGR1.22375224
55TNIK1.21967095
56DAPK21.19873010
57SIK11.18678821
58IRAK21.16399458
59GRK11.14821640
60TRPM71.12661520
61SIK21.10311967
62CSF1R1.09552357
63ALK1.07756617
64MAP3K91.03134978
65STK391.02136379
66PLK11.00729126
67PBK0.98710836
68MUSK0.97252910
69EIF2AK20.95106830
70BRSK10.95080973
71PLK40.94079500
72MAP3K110.92832597
73MAP3K10.92508280
74CDK30.91962112
75MAP3K30.91669247
76IKBKB0.90105057
77KSR20.89891951
78LYN0.88491123
79MAP3K60.87104308
80JAK20.86488154
81FGFR40.84299113
82MAP4K20.82431189
83IKBKE0.81972843
84NLK0.81830925
85PINK10.80956437
86TAOK10.79956907
87CDC42BPA0.79721803
88CAMK1D0.77231854
89TYK20.77162469
90MATK0.76766084
91TYRO30.76533832
92BMX0.76359655
93KIT0.75836078
94ERN10.75739633
95RPS6KA50.75713826
96JAK10.73455906
97DYRK20.73223281
98CDK120.71104678
99LMTK20.69801477
100PAK60.69618995
101BRD40.67517200
102AURKB0.67503144
103CCNB10.67428815
104FRK0.63856977
105CHEK10.62324679
106CAMK40.62227111
107SGK20.60733559
108CHEK20.59520193
109MAP3K140.59371081
110ITK0.59281234
111LCK0.57636186
112ERBB20.57078737
113GRK50.55546440
114MKNK20.54447080
115MAPK120.53043748
116AKT30.52437812
117TTK0.51961324
118PTK2B0.50225571
119RET0.49946150
120AURKA0.49561731
121MKNK10.49050448
122PRKG10.48650031
123NEK60.48231711
124MARK20.48210392
125PRKCZ0.47422272
126RPS6KA60.47132187
127PRKAA20.47064410
128RPS6KL10.46712615
129RPS6KC10.46712615
130CHUK0.46270899
131FER0.45683356
132YES10.45307979
133CSNK1E0.45266701
134RPS6KB20.45182622
135CSNK1A1L0.44629602
136PAK30.44509870
137SGK30.43602456
138PLK30.43373553
139RPS6KA20.41306163
140RPS6KA10.41241881
141STK160.40439992
142MAPK70.40009638
143MAP2K40.38550606
144MTOR0.38377168
145MAP3K20.38309715
146FYN0.38123991
147WNK10.37285596
148ACVR1B0.36998885
149TESK20.36392575
150EIF2AK30.36346093
151MAPK10.36111431
152DYRK1A0.35919356
153ADRBK10.35788446
154TBK10.35663916
155PRKAA10.35465890
156CAMK10.35435401
157DMPK0.35296349
158IRAK30.33517834
159WNK40.32425576
160RIPK40.31929651
161NUAK10.31742050
162PRKCG0.31409070
163ERBB40.31085293
164ATM0.30293922
165CDK70.30086749
166EIF2AK10.29981114
167PRPF4B0.28082852
168MAP3K130.28075279
169PDK10.27833864
170NTRK10.27185138
171CDK190.26815646
172NTRK20.25125548
173CAMK1G0.23487919

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007504.98118807
2RNA transport_Homo sapiens_hsa030132.54798350
3Phenylalanine metabolism_Homo sapiens_hsa003602.53642659
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.47342028
5Basal transcription factors_Homo sapiens_hsa030222.45633872
6Fanconi anemia pathway_Homo sapiens_hsa034602.36644697
7Platelet activation_Homo sapiens_hsa046112.16748755
8Dorso-ventral axis formation_Homo sapiens_hsa043202.15349568
9Osteoclast differentiation_Homo sapiens_hsa043802.15222148
10Cell cycle_Homo sapiens_hsa041102.11961501
11Leishmaniasis_Homo sapiens_hsa051402.04169188
12Pentose phosphate pathway_Homo sapiens_hsa000301.93016153
13Oocyte meiosis_Homo sapiens_hsa041141.91646713
14Linoleic acid metabolism_Homo sapiens_hsa005911.90424174
15Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.88759240
16Histidine metabolism_Homo sapiens_hsa003401.87413278
17Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.81040186
18Basal cell carcinoma_Homo sapiens_hsa052171.80673601
19alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.79496490
20Olfactory transduction_Homo sapiens_hsa047401.75665907
21Fatty acid biosynthesis_Homo sapiens_hsa000611.72926942
22RNA polymerase_Homo sapiens_hsa030201.72506978
23NOD-like receptor signaling pathway_Homo sapiens_hsa046211.67661555
24mRNA surveillance pathway_Homo sapiens_hsa030151.66721003
25Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.63889497
26Chemokine signaling pathway_Homo sapiens_hsa040621.55634327
27Hippo signaling pathway_Homo sapiens_hsa043901.54421633
28Tight junction_Homo sapiens_hsa045301.47084448
29beta-Alanine metabolism_Homo sapiens_hsa004101.47027847
30Hedgehog signaling pathway_Homo sapiens_hsa043401.45942925
31Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.45695279
32Malaria_Homo sapiens_hsa051441.45479080
33Staphylococcus aureus infection_Homo sapiens_hsa051501.45019243
34Tuberculosis_Homo sapiens_hsa051521.44528471
35Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.44244687
36Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.44231550
37Toll-like receptor signaling pathway_Homo sapiens_hsa046201.42682492
38Graft-versus-host disease_Homo sapiens_hsa053321.41288283
39Influenza A_Homo sapiens_hsa051641.40226712
40Hematopoietic cell lineage_Homo sapiens_hsa046401.39392231
41Legionellosis_Homo sapiens_hsa051341.36233072
42Spliceosome_Homo sapiens_hsa030401.36129704
43Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.35510402
44Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.35202237
45Amphetamine addiction_Homo sapiens_hsa050311.30267208
46Wnt signaling pathway_Homo sapiens_hsa043101.29697825
47Leukocyte transendothelial migration_Homo sapiens_hsa046701.28667350
48Homologous recombination_Homo sapiens_hsa034401.28328458
49Acute myeloid leukemia_Homo sapiens_hsa052211.25108658
50Lysine degradation_Homo sapiens_hsa003101.23347517
51T cell receptor signaling pathway_Homo sapiens_hsa046601.23071844
52Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.21864127
53Allograft rejection_Homo sapiens_hsa053301.19738143
54Jak-STAT signaling pathway_Homo sapiens_hsa046301.19638250
55Adipocytokine signaling pathway_Homo sapiens_hsa049201.16777698
56Glucagon signaling pathway_Homo sapiens_hsa049221.16714943
57Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.16509224
58Pyrimidine metabolism_Homo sapiens_hsa002401.14342403
59Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.13095808
60Autoimmune thyroid disease_Homo sapiens_hsa053201.11809510
61Ribosome_Homo sapiens_hsa030101.11614887
62Ether lipid metabolism_Homo sapiens_hsa005651.10635791
63VEGF signaling pathway_Homo sapiens_hsa043701.09948807
64Glycerophospholipid metabolism_Homo sapiens_hsa005641.08894245
65Measles_Homo sapiens_hsa051621.08762316
66RNA degradation_Homo sapiens_hsa030181.06041516
67Purine metabolism_Homo sapiens_hsa002301.04971100
68Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.04383233
69Non-small cell lung cancer_Homo sapiens_hsa052231.04277507
70Endocytosis_Homo sapiens_hsa041441.04261514
71p53 signaling pathway_Homo sapiens_hsa041151.03479464
72Vascular smooth muscle contraction_Homo sapiens_hsa042701.01792527
73Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.01093721
74Nucleotide excision repair_Homo sapiens_hsa034201.00379182
75Toxoplasmosis_Homo sapiens_hsa051450.99972318
76Type II diabetes mellitus_Homo sapiens_hsa049300.98837602
77Non-homologous end-joining_Homo sapiens_hsa034500.97565464
78Protein digestion and absorption_Homo sapiens_hsa049740.97538453
79NF-kappa B signaling pathway_Homo sapiens_hsa040640.96131687
80Vitamin digestion and absorption_Homo sapiens_hsa049770.96020262
81Salivary secretion_Homo sapiens_hsa049700.95041811
82Phospholipase D signaling pathway_Homo sapiens_hsa040720.94440890
83Morphine addiction_Homo sapiens_hsa050320.91064709
84Choline metabolism in cancer_Homo sapiens_hsa052310.90859714
85Proteasome_Homo sapiens_hsa030500.89734530
86ECM-receptor interaction_Homo sapiens_hsa045120.89518219
87MicroRNAs in cancer_Homo sapiens_hsa052060.89130656
88Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.88945945
89Type I diabetes mellitus_Homo sapiens_hsa049400.88916525
90Circadian rhythm_Homo sapiens_hsa047100.88447785
91TNF signaling pathway_Homo sapiens_hsa046680.87806289
92DNA replication_Homo sapiens_hsa030300.86714592
93Herpes simplex infection_Homo sapiens_hsa051680.84312662
94Epstein-Barr virus infection_Homo sapiens_hsa051690.82930174
95Tyrosine metabolism_Homo sapiens_hsa003500.82720342
96Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.82032844
97Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.80663453
98Axon guidance_Homo sapiens_hsa043600.80501907
99RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.80231073
100Hepatitis B_Homo sapiens_hsa051610.79556048
101TGF-beta signaling pathway_Homo sapiens_hsa043500.78209477
102Chemical carcinogenesis_Homo sapiens_hsa052040.77582577
103Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.76401599
104SNARE interactions in vesicular transport_Homo sapiens_hsa041300.75903941
105Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.73507055
106Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.73397240
107Adherens junction_Homo sapiens_hsa045200.73373237
108Antigen processing and presentation_Homo sapiens_hsa046120.72953689
109Prolactin signaling pathway_Homo sapiens_hsa049170.72349034
110Pancreatic cancer_Homo sapiens_hsa052120.71878024
111Mismatch repair_Homo sapiens_hsa034300.71804153
112Serotonergic synapse_Homo sapiens_hsa047260.70884768
113Phagosome_Homo sapiens_hsa041450.70331528
114Nicotine addiction_Homo sapiens_hsa050330.70065165
115Viral myocarditis_Homo sapiens_hsa054160.69045138
116AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.68503516
117Phototransduction_Homo sapiens_hsa047440.68425469
118MAPK signaling pathway_Homo sapiens_hsa040100.68142525
119Primary immunodeficiency_Homo sapiens_hsa053400.67679617
120ABC transporters_Homo sapiens_hsa020100.66560170
121African trypanosomiasis_Homo sapiens_hsa051430.64343033
122Taste transduction_Homo sapiens_hsa047420.63623877
123Estrogen signaling pathway_Homo sapiens_hsa049150.63476281
124Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.63164814
125Melanogenesis_Homo sapiens_hsa049160.62793811
126Cholinergic synapse_Homo sapiens_hsa047250.62531367
127Other glycan degradation_Homo sapiens_hsa005110.62492357
128Notch signaling pathway_Homo sapiens_hsa043300.62365254
129Inositol phosphate metabolism_Homo sapiens_hsa005620.61844234
130Small cell lung cancer_Homo sapiens_hsa052220.59787650
131Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.58372706
132Renal cell carcinoma_Homo sapiens_hsa052110.57052021
133HTLV-I infection_Homo sapiens_hsa051660.56477792
134Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.56023454
135Neurotrophin signaling pathway_Homo sapiens_hsa047220.55937658
136Sphingolipid signaling pathway_Homo sapiens_hsa040710.55284656
137Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.54579611
138Arachidonic acid metabolism_Homo sapiens_hsa005900.54031175
139Carbohydrate digestion and absorption_Homo sapiens_hsa049730.53721946
140Pancreatic secretion_Homo sapiens_hsa049720.53459247
141Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.53386082
142Gap junction_Homo sapiens_hsa045400.52287112
143cAMP signaling pathway_Homo sapiens_hsa040240.52107764
144Viral carcinogenesis_Homo sapiens_hsa052030.51921688
145Endometrial cancer_Homo sapiens_hsa052130.51031039
146Amoebiasis_Homo sapiens_hsa051460.50924060
147Cysteine and methionine metabolism_Homo sapiens_hsa002700.49696865
148Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.49485386
149Cocaine addiction_Homo sapiens_hsa050300.49296095
150Insulin resistance_Homo sapiens_hsa049310.48700581
151B cell receptor signaling pathway_Homo sapiens_hsa046620.48631293
152Intestinal immune network for IgA production_Homo sapiens_hsa046720.48453356
153Prostate cancer_Homo sapiens_hsa052150.47747067
154Mineral absorption_Homo sapiens_hsa049780.47628161
155Steroid hormone biosynthesis_Homo sapiens_hsa001400.44221986
156Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.43759148
157Glycerolipid metabolism_Homo sapiens_hsa005610.43704558
158Hepatitis C_Homo sapiens_hsa051600.41890332
159Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.40876207
160Thyroid hormone signaling pathway_Homo sapiens_hsa049190.40104586
161Calcium signaling pathway_Homo sapiens_hsa040200.40078016
162Transcriptional misregulation in cancer_Homo sapiens_hsa052020.39961812
163Phosphatidylinositol signaling system_Homo sapiens_hsa040700.39767840
164FoxO signaling pathway_Homo sapiens_hsa040680.38904221
165Ovarian steroidogenesis_Homo sapiens_hsa049130.38518087
166Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.38161792
167cGMP-PKG signaling pathway_Homo sapiens_hsa040220.37351128
168Thyroid hormone synthesis_Homo sapiens_hsa049180.37177369
169Aldosterone synthesis and secretion_Homo sapiens_hsa049250.36457307
170Systemic lupus erythematosus_Homo sapiens_hsa053220.36081410
171Proteoglycans in cancer_Homo sapiens_hsa052050.35877255
172ErbB signaling pathway_Homo sapiens_hsa040120.34537981

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