MYO7A

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





Description: This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1detection of molecule of bacterial origin (GO:0032490)9.30800401
2negative regulation of macroautophagy (GO:0016242)9.21452604
3positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)7.67650653
4energy homeostasis (GO:0097009)6.13907357
5sulfate transmembrane transport (GO:1902358)6.00929199
6complement activation, alternative pathway (GO:0006957)5.90996375
7cellular anion homeostasis (GO:0030002)5.89800916
8detection of external biotic stimulus (GO:0098581)5.82938196
9negative regulation of meiosis (GO:0045835)5.60165737
10phosphate ion homeostasis (GO:0055062)5.55592781
11trivalent inorganic anion homeostasis (GO:0072506)5.55592781
12regulation of apoptotic cell clearance (GO:2000425)5.19219666
13synaptic vesicle docking involved in exocytosis (GO:0016081)5.04832051
14sulfate transport (GO:0008272)4.99022780
15lateral ventricle development (GO:0021670)4.98838797
16positive regulation of neurological system process (GO:0031646)4.93081854
17detection of biotic stimulus (GO:0009595)4.91692624
18regulation of protein activation cascade (GO:2000257)4.86296854
19regulation of complement activation (GO:0030449)4.80337676
20regulation of tumor necrosis factor biosynthetic process (GO:0042534)4.75721368
21glucocorticoid biosynthetic process (GO:0006704)4.64662246
22exogenous drug catabolic process (GO:0042738)4.64308469
23regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00434.53842950
24cholesterol efflux (GO:0033344)4.34868894
25negative regulation of fibrinolysis (GO:0051918)4.34303684
26positive regulation of neurotransmitter secretion (GO:0001956)4.29713414
27neuron remodeling (GO:0016322)4.29125613
28glycoside metabolic process (GO:0016137)4.28738689
29plasma lipoprotein particle clearance (GO:0034381)4.19134514
30negative regulation of response to extracellular stimulus (GO:0032105)4.17219897
31negative regulation of response to nutrient levels (GO:0032108)4.17219897
32bicarbonate transport (GO:0015701)4.17021439
33very-low-density lipoprotein particle assembly (GO:0034379)4.11855781
34peptidyl-lysine dimethylation (GO:0018027)4.11317662
35phospholipid efflux (GO:0033700)4.06553121
36regulation of cholesterol esterification (GO:0010872)4.03248193
37plasma lipoprotein particle assembly (GO:0034377)4.02488829
38estrogen biosynthetic process (GO:0006703)4.02212189
39positive regulation of hormone biosynthetic process (GO:0046886)3.98731830
40negative regulation of sterol transport (GO:0032372)3.98125027
41negative regulation of cholesterol transport (GO:0032375)3.98125027
42triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.90874723
43regulation of fibrinolysis (GO:0051917)3.90384133
44regulation of interleukin-6 biosynthetic process (GO:0045408)3.86194567
45protein-lipid complex assembly (GO:0065005)3.84416136
46regulation of macrophage chemotaxis (GO:0010758)3.81570273
47low-density lipoprotein particle remodeling (GO:0034374)3.80697625
48drug catabolic process (GO:0042737)3.76024932
49sulfur compound transport (GO:0072348)3.75774354
50plasma lipoprotein particle remodeling (GO:0034369)3.69535421
51protein-lipid complex remodeling (GO:0034368)3.69535421
52macromolecular complex remodeling (GO:0034367)3.69535421
53complement activation, classical pathway (GO:0006958)3.67290399
54negative regulation of glial cell proliferation (GO:0060253)3.64552141
55complement activation (GO:0006956)3.51864469
56reverse cholesterol transport (GO:0043691)3.51753019
57inositol metabolic process (GO:0006020)3.49816087
58oligosaccharide catabolic process (GO:0009313)3.47753704
59high-density lipoprotein particle remodeling (GO:0034375)3.47638541
60protein activation cascade (GO:0072376)3.45681711
61plasma lipoprotein particle organization (GO:0071827)3.44070678
62maintenance of gastrointestinal epithelium (GO:0030277)3.43431494
63erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.41633937
64L-phenylalanine catabolic process (GO:0006559)3.41633937
65epoxygenase P450 pathway (GO:0019373)3.39708905
66prostate gland growth (GO:0060736)3.37897908
67L-phenylalanine metabolic process (GO:0006558)3.37893225
68erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.37893225
69protein-lipid complex subunit organization (GO:0071825)3.37753340
70positive regulation of fatty acid biosynthetic process (GO:0045723)3.32544419
71glucocorticoid metabolic process (GO:0008211)3.31462758
72protein carboxylation (GO:0018214)3.30474094
73peptidyl-glutamic acid carboxylation (GO:0017187)3.30474094
74positive regulation of lipoprotein lipase activity (GO:0051006)3.27370823
75positive regulation of triglyceride lipase activity (GO:0061365)3.27370823
76positive regulation of neurotransmitter transport (GO:0051590)3.25388116
77positive regulation of phagocytosis (GO:0050766)3.24497176
78positive regulation of vascular permeability (GO:0043117)3.24237471
79negative regulation of meiotic cell cycle (GO:0051447)3.22741887
80regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.19132725
81regulation of cholesterol storage (GO:0010885)3.18415650
82regulation of humoral immune response (GO:0002920)3.16439034
83N-acetylneuraminate metabolic process (GO:0006054)3.16291989
84positive regulation of glycolytic process (GO:0045821)3.13656505
85positive regulation of steroid metabolic process (GO:0045940)3.12911170
86glycosphingolipid catabolic process (GO:0046479)3.12765102
87acute-phase response (GO:0006953)3.09667722
88positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.08696163
89fat-soluble vitamin biosynthetic process (GO:0042362)3.06190449
90intestinal cholesterol absorption (GO:0030299)3.05366729
91regulation of mononuclear cell migration (GO:0071675)3.05248888
92fibrinolysis (GO:0042730)3.04452965
93positive regulation of myeloid leukocyte mediated immunity (GO:0002888)3.04320454
94low-density lipoprotein particle clearance (GO:0034383)3.04297717
95omega-hydroxylase P450 pathway (GO:0097267)3.00517989
96diaphragm development (GO:0060539)3.00162814
97doxorubicin metabolic process (GO:0044598)24.4649862
98daunorubicin metabolic process (GO:0044597)24.4649862
99polyketide metabolic process (GO:0030638)24.4649862
100positive regulation of CREB transcription factor activity (GO:0032793)2.97101127
101bile acid biosynthetic process (GO:0006699)2.94566002
102blood coagulation, intrinsic pathway (GO:0007597)2.92426686
103androgen biosynthetic process (GO:0006702)2.89296388
104C21-steroid hormone biosynthetic process (GO:0006700)2.88586026
105cholesterol transport (GO:0030301)2.88473595
106sterol transport (GO:0015918)2.88473595
107lipoprotein metabolic process (GO:0042157)2.88298583
108tachykinin receptor signaling pathway (GO:0007217)2.87099812
109negative regulation of blood coagulation (GO:0030195)2.87038640
110negative regulation of hemostasis (GO:1900047)2.87038640
111aromatic amino acid family catabolic process (GO:0009074)2.85026740
112positive regulation of cholesterol efflux (GO:0010875)2.83804654
113positive regulation of hormone metabolic process (GO:0032352)2.83390966
114glycolipid catabolic process (GO:0019377)2.83220212
115positive regulation of protein sumoylation (GO:0033235)2.82751469
116negative regulation of autophagy (GO:0010507)2.82391772
117vocalization behavior (GO:0071625)2.82352598
118cell proliferation involved in metanephros development (GO:0072203)2.80786743
119positive regulation of uterine smooth muscle contraction (GO:0070474)2.80307664
120amino sugar catabolic process (GO:0046348)2.80060062
121regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.79979206
122negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.79954045
123histone H3-K9 modification (GO:0061647)2.77860851
124macrophage activation (GO:0042116)2.77632984
125regulation of hypersensitivity (GO:0002883)2.76896336
126regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.76413922
127regulation of plasminogen activation (GO:0010755)2.76064453
128response to pheromone (GO:0019236)2.75816996
129skeletal muscle organ development (GO:0060538)2.73566961
130regulation of cholesterol homeostasis (GO:2000188)2.70962813
131sodium-independent organic anion transport (GO:0043252)2.70123330
132epithelial structure maintenance (GO:0010669)2.69706673
133positive regulation vascular endothelial growth factor production (GO:0010575)2.67775414
134C21-steroid hormone metabolic process (GO:0008207)2.67403654
135response to thyroid hormone (GO:0097066)2.66196067
136regulation of activation of Janus kinase activity (GO:0010533)2.65716853
137positive regulation of chemokine secretion (GO:0090197)2.65344850
138bile acid metabolic process (GO:0008206)2.64696036
139vitamin D metabolic process (GO:0042359)2.64548730
140positive regulation of cholesterol transport (GO:0032376)2.62974592
141positive regulation of sterol transport (GO:0032373)2.62974592
142positive thymic T cell selection (GO:0045059)2.61124910
143urea metabolic process (GO:0019627)2.60889643
144negative regulation of coagulation (GO:0050819)2.60599275
145somatic stem cell division (GO:0048103)2.59456012
146cellular response to thyroid hormone stimulus (GO:0097067)2.59270663
147negative regulation of protein activation cascade (GO:2000258)2.59222560
148protein localization to cell surface (GO:0034394)2.59103818
149opsonization (GO:0008228)2.58874656
150negative regulation of interleukin-12 production (GO:0032695)2.58764854
151positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)2.58288666
152positive regulation of blood coagulation (GO:0030194)2.56992072
153positive regulation of hemostasis (GO:1900048)2.56992072
154triglyceride homeostasis (GO:0070328)2.56866708
155acylglycerol homeostasis (GO:0055090)2.56866708
156mRNA transcription from RNA polymerase II promoter (GO:0042789)2.56258858
157L-ascorbic acid metabolic process (GO:0019852)2.54722950
158positive regulation of inflammatory response to antigenic stimulus (GO:0002863)2.54556623
159neutrophil activation involved in immune response (GO:0002283)2.53691010
160negative regulation of lipase activity (GO:0060192)2.53325830
161fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.53008420
162venous blood vessel morphogenesis (GO:0048845)2.52159947
163positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.52126773
164fat-soluble vitamin catabolic process (GO:0042363)2.48757041
165vitamin catabolic process (GO:0009111)2.48757041
166azole transport (GO:0045117)2.47811385
167regulation of vascular endothelial growth factor production (GO:0010574)2.46626926
168opioid receptor signaling pathway (GO:0038003)2.44906517
169negative regulation of calcium ion transport into cytosol (GO:0010523)2.40672523
170positive regulation of protein homooligomerization (GO:0032464)2.39324499
171developmental pigmentation (GO:0048066)2.38202876
172regulation of myelination (GO:0031641)2.35063510
173glycine transport (GO:0015816)2.33344004
174regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.31063062
175detection of chemical stimulus (GO:0009593)2.27460263
176head development (GO:0060322)2.25894555
177regulation of glutamate receptor signaling pathway (GO:1900449)2.25637160
178regulation of meiosis (GO:0040020)2.25623997
179lymphangiogenesis (GO:0001946)2.25381138
180drinking behavior (GO:0042756)2.24973087
181forebrain neuron differentiation (GO:0021879)2.24317629
182long term synaptic depression (GO:0060292)2.21011191
183cell proliferation involved in kidney development (GO:0072111)2.19573791
184negative regulation of phagocytosis (GO:0050765)2.18504157
185regulation of uterine smooth muscle contraction (GO:0070472)2.17901261
186negative regulation of cell fate specification (GO:0009996)2.15754141
187regulation of glial cell proliferation (GO:0060251)2.14084696
188mesonephros development (GO:0001823)2.13548888
189Arp2/3 complex-mediated actin nucleation (GO:0034314)2.11785537
190regulation of transcription from RNA polymerase III promoter (GO:0006359)2.08513695
191arginine catabolic process (GO:0006527)2.06841666
192positive regulation of dendrite morphogenesis (GO:0050775)2.03231527
193mRNA transcription (GO:0009299)2.03080353
194regulation of B cell receptor signaling pathway (GO:0050855)2.01314863
195aminoglycoside antibiotic metabolic process (GO:0030647)16.1262940

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.70913343
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.62577366
3IRF8_22096565_ChIP-ChIP_GC-B_Human3.80193058
4RXR_22158963_ChIP-Seq_LIVER_Mouse3.36913098
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.22708992
6GBX2_23144817_ChIP-Seq_PC3_Human3.14727470
7NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.99680869
8LXR_22158963_ChIP-Seq_LIVER_Mouse2.98398846
9PPARA_22158963_ChIP-Seq_LIVER_Mouse2.97488011
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.76157335
11EZH2_18974828_ChIP-Seq_MESCs_Mouse2.76157335
12JARID2_20064375_ChIP-Seq_MESCs_Mouse2.70346462
13EED_16625203_ChIP-ChIP_MESCs_Mouse2.67761922
14SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.60429119
15Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.60309331
16PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.58394148
17IRF8_21731497_ChIP-ChIP_J774_Mouse2.56550920
18SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.46406831
19GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.45439116
20IRF8_27001747_Chip-Seq_BMDM_Mouse2.43708188
21EGR1_23403033_ChIP-Seq_LIVER_Mouse2.38685972
22EZH2_27304074_Chip-Seq_ESCs_Mouse2.34302126
23JARID2_20075857_ChIP-Seq_MESCs_Mouse2.26095991
24SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.23892363
25SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.22985259
26CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.19492908
27NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.17446795
28RXR_22108803_ChIP-Seq_LS180_Human2.16863521
29RNF2_27304074_Chip-Seq_ESCs_Mouse2.12907531
30RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.08638078
31BP1_19119308_ChIP-ChIP_Hs578T_Human2.07967478
32STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.02518043
33* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.01167493
34* DROSHA_22980978_ChIP-Seq_HELA_Human2.00443984
35NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.99818207
36SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.94631169
37GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.94515320
38SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.90300935
39ESR2_21235772_ChIP-Seq_MCF-7_Human1.89744473
40* EZH2_27294783_Chip-Seq_ESCs_Mouse1.86160454
41IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.84658607
42* LXR_22292898_ChIP-Seq_THP-1_Human1.82642468
43MTF2_20144788_ChIP-Seq_MESCs_Mouse1.81800210
44* FOXA2_19822575_ChIP-Seq_HepG2_Human1.80097375
45ERG_21242973_ChIP-ChIP_JURKAT_Human1.79299976
46PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.78452314
47CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.78281470
48PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.77674109
49RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.76910765
50SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.71453689
51SMAD3_21741376_ChIP-Seq_EPCs_Human1.70600924
52REST_21632747_ChIP-Seq_MESCs_Mouse1.68253078
53EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.67204098
54ESR1_21235772_ChIP-Seq_MCF-7_Human1.65732544
55RING1B_27294783_Chip-Seq_ESCs_Mouse1.62486030
56SPI1_23127762_ChIP-Seq_K562_Human1.61182958
57PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.60759510
58RARG_19884340_ChIP-ChIP_MEFs_Mouse1.56049011
59SCL_19346495_ChIP-Seq_HPC-7_Human1.51411324
60VDR_22108803_ChIP-Seq_LS180_Human1.50699611
61CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.48637519
62SMAD_19615063_ChIP-ChIP_OVARY_Human1.47216613
63PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.41386088
64CBX2_27304074_Chip-Seq_ESCs_Mouse1.40529532
65MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.40052252
66STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.37403649
67GATA2_21666600_ChIP-Seq_HMVEC_Human1.37084433
68MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.34146176
69GATA1_19941827_ChIP-Seq_MEL_Mouse1.34079513
70SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33011222
71* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.32744262
72RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.30077704
73TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.29649854
74NR3C1_21868756_ChIP-Seq_MCF10A_Human1.28337146
75BMI1_23680149_ChIP-Seq_NPCS_Mouse1.25256603
76TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.24996939
77ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.24181740
78* HNF4A_19822575_ChIP-Seq_HepG2_Human1.24051104
79LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.23332045
80AR_25329375_ChIP-Seq_VCAP_Human1.22961063
81* P300_19829295_ChIP-Seq_ESCs_Human1.22917230
82PIAS1_25552417_ChIP-Seq_VCAP_Human1.22871769
83KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.21772195
84KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.21772195
85KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.21772195
86EP300_21415370_ChIP-Seq_HL-1_Mouse1.21533090
87POU5F1_16153702_ChIP-ChIP_HESCs_Human1.20816986
88IKZF1_21737484_ChIP-ChIP_HCT116_Human1.19329769
89CDX2_20551321_ChIP-Seq_CACO-2_Human1.19218526
90RING1B_27294783_Chip-Seq_NPCs_Mouse1.19126117
91TP53_20018659_ChIP-ChIP_R1E_Mouse1.18950912
92VDR_24787735_ChIP-Seq_THP-1_Human1.18913983
93CDX2_19796622_ChIP-Seq_MESCs_Mouse1.17962742
94WT1_25993318_ChIP-Seq_PODOCYTE_Human1.15671599
95NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.15221105
96BRD4_27068464_Chip-Seq_AML-cells_Mouse1.14851885
97PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.14837875
98MYB_21317192_ChIP-Seq_ERMYB_Mouse1.13819949
99CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13811568
100RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.13670458
101SMAD4_21741376_ChIP-Seq_HESCs_Human1.13327308
102GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.13169813
103ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.12070034
104VDR_24763502_ChIP-Seq_THP-1_Human1.11972155
105E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.11873448
106RUNX_20019798_ChIP-Seq_JUKART_Human1.11708104
107VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.11553019
108FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.10305759
109TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.10030362
110STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.09919571
111STAT4_19710469_ChIP-ChIP_TH1__Mouse1.09158255
112* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.08986694
113CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.07992216
114ZNF217_24962896_ChIP-Seq_MCF-7_Human1.06616265
115STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.06303568
116GATA1_19941826_ChIP-Seq_K562_Human1.05208710
117CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.04691019
118SMAD3_21741376_ChIP-Seq_HESCs_Human1.04478228
119CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.04428410
120SMAD4_21799915_ChIP-Seq_A2780_Human1.04381808
121ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.04206627
122THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.03805862
123RUNX2_22187159_ChIP-Seq_PCA_Human1.03503337
124NFIB_24661679_ChIP-Seq_LUNG_Mouse1.01907164
125ZFP281_27345836_Chip-Seq_ESCs_Mouse1.01680693
126RNF2_27304074_Chip-Seq_NSC_Mouse1.00640189
127SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.00453497
128SUZ12_27294783_Chip-Seq_NPCs_Mouse1.00176161
129CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.99468397
130LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.98486139
131MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98006477
132GF1B_26923725_Chip-Seq_HPCs_Mouse0.97152417
133CTBP2_25329375_ChIP-Seq_LNCAP_Human0.97052105
134SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.96795784
135* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.96645156
136P63_26484246_Chip-Seq_KERATINOCYTES_Human0.96604577
137SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.96353952
138STAT3_23295773_ChIP-Seq_U87_Human0.96179863
139ELK4_26923725_Chip-Seq_MESODERM_Mouse0.95225513
140P53_22127205_ChIP-Seq_FIBROBLAST_Human0.95115102
141GATA1_22025678_ChIP-Seq_K562_Human0.94291682
142WT1_19549856_ChIP-ChIP_CCG9911_Human0.94249787
143JUN_21703547_ChIP-Seq_K562_Human0.93371545
144YAP1_20516196_ChIP-Seq_MESCs_Mouse0.93012793
145PU_27001747_Chip-Seq_BMDM_Mouse0.92536481
146NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.92371778
147POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.92311614
148TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92311614
149GATA4_25053715_ChIP-Seq_YYC3_Human0.92212551
150* TCF4_23295773_ChIP-Seq_U87_Human0.91924908
151TBL1_22424771_ChIP-Seq_293T_Human0.91621062
152TP53_16413492_ChIP-PET_HCT116_Human0.91503967
153TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.90754697
154BCOR_27268052_Chip-Seq_Bcells_Human0.90741566
155* TCF4_22108803_ChIP-Seq_LS180_Human0.90199424
156CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.90022066
157NFE2_27457419_Chip-Seq_LIVER_Mouse0.89717065
158ESR1_20079471_ChIP-ChIP_T-47D_Human0.89460405
159E2F1_18555785_Chip-Seq_ESCs_Mouse0.89150780
160PCGF2_27294783_Chip-Seq_ESCs_Mouse0.88891110
161CLOCK_20551151_ChIP-Seq_293T_Human0.88802455
162VDR_21846776_ChIP-Seq_THP-1_Human0.88031476
163EZH2_27294783_Chip-Seq_NPCs_Mouse0.87905821
164RARB_27405468_Chip-Seq_BRAIN_Mouse0.87703034
165TP53_18474530_ChIP-ChIP_U2OS_Human0.87638136
166ELK3_25401928_ChIP-Seq_HUVEC_Human0.87231806
167* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.86685419
168BCL6_27268052_Chip-Seq_Bcells_Human0.85692533
169GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85099486
170GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84723945
171OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.84695791
172AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.84620009
173BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.83969069
174PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.83916409
175DNAJC2_21179169_ChIP-ChIP_NT2_Human0.83881055
176MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.83847309
177SMC4_20622854_ChIP-Seq_HELA_Human0.82872039
178KDM2B_26808549_Chip-Seq_K562_Human0.81866311
179GATA2_19941826_ChIP-Seq_K562_Human0.81822555
180TBX20_22080862_ChIP-Seq_HEART_Mouse0.80960554
181TBX20_22328084_ChIP-Seq_HEART_Mouse0.80960554
182PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.80733497
183STAT1_20625510_ChIP-Seq_HELA_Human0.79904457
184CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.79314824
185TCF7_22412390_ChIP-Seq_EML_Mouse0.78461989
186P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.78292482
187* SPI1_20517297_ChIP-Seq_HL60_Human0.76154943
188RXRA_24833708_ChIP-Seq_LIVER_Mouse0.74449756

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005645_abnormal_hypothalamus_physiol5.20581950
2MP0002139_abnormal_hepatobiliary_system5.13729707
3MP0000678_abnormal_parathyroid_gland4.88118611
4MP0005058_abnormal_lysosome_morphology4.54541475
5MP0009697_abnormal_copulation4.39061119
6MP0009840_abnormal_foam_cell4.02661037
7MP0005365_abnormal_bile_salt3.61535450
8MP0005423_abnormal_somatic_nervous3.51675684
9MP0003195_calcinosis3.33220371
10MP0005360_urolithiasis2.81339524
11MP0003172_abnormal_lysosome_physiology2.77510734
12MP0003646_muscle_fatigue2.68027086
13MP0006292_abnormal_olfactory_placode2.65842802
14MP0006276_abnormal_autonomic_nervous2.64936310
15MP0008875_abnormal_xenobiotic_pharmacok2.60577185
16MP0003941_abnormal_skin_development2.57209987
17MP0000604_amyloidosis2.38318311
18MP0001986_abnormal_taste_sensitivity2.36189991
19MP0003303_peritoneal_inflammation2.35780683
20MP0000566_synostosis2.30741879
21MP0005171_absent_coat_pigmentation2.29874125
22MP0006082_CNS_inflammation2.26614486
23MP0002138_abnormal_hepatobiliary_system2.20775509
24MP0003300_gastrointestinal_ulcer2.19172125
25MP0003436_decreased_susceptibility_to2.16778269
26MP0003724_increased_susceptibility_to2.03153721
27MP0008004_abnormal_stomach_pH10.3543149
28MP0009785_altered_susceptibility_to1.94115876
29MP0002419_abnormal_innate_immunity1.93477919
30MP0003045_fibrosis1.93136348
31MP0004858_abnormal_nervous_system1.87385766
32MP0004859_abnormal_synaptic_plasticity1.86448321
33MP0003690_abnormal_glial_cell1.86275101
34MP0002938_white_spotting1.80532259
35MP0002148_abnormal_hypersensitivity_rea1.80031202
36MP0005451_abnormal_body_composition1.74228752
37MP0005671_abnormal_response_to1.73584585
38MP0001440_abnormal_grooming_behavior1.72972306
39MP0003252_abnormal_bile_duct1.71307654
40MP0001790_abnormal_immune_system1.66607674
41MP0005387_immune_system_phenotype1.66607674
42MP0001664_abnormal_digestion1.66058739
43MP0000685_abnormal_immune_system1.59978356
44MP0002735_abnormal_chemical_nociception1.57791599
45MP0005464_abnormal_platelet_physiology1.55604794
46MP0003880_abnormal_central_pattern1.54578660
47MP0003183_abnormal_peptide_metabolism1.53987374
48MP0001666_abnormal_nutrient_absorption1.53841603
49MP0005647_abnormal_sex_gland1.53840637
50MP0001533_abnormal_skeleton_physiology1.53595374
51MP0009046_muscle_twitch1.52782573
52MP0004043_abnormal_pH_regulation1.51787404
53MP0000343_altered_response_to1.51423724
54MP0002249_abnormal_larynx_morphology1.49253764
55MP0003329_amyloid_beta_deposits1.48798160
56MP0005025_abnormal_response_to1.47206507
57MP0003566_abnormal_cell_adhesion1.45800959
58MP0008469_abnormal_protein_level1.44800196
59MP0005167_abnormal_blood-brain_barrier1.44133901
60MP0005000_abnormal_immune_tolerance1.43161723
61MP0005332_abnormal_amino_acid1.40288596
62MP0002132_abnormal_respiratory_system1.40253949
63MP0005646_abnormal_pituitary_gland1.38850626
64MP0000470_abnormal_stomach_morphology1.38840382
65MP0003191_abnormal_cellular_cholesterol1.37420640
66MP0008874_decreased_physiological_sensi1.35645156
67MP0000609_abnormal_liver_physiology1.35020798
68MP0001835_abnormal_antigen_presentation1.34832254
69MP0001661_extended_life_span1.34767733
70MP0004885_abnormal_endolymph1.32297234
71MP0000639_abnormal_adrenal_gland1.28469806
72MP0009764_decreased_sensitivity_to1.27854454
73MP0002796_impaired_skin_barrier1.27833035
74MP0001853_heart_inflammation1.27249435
75MP0004134_abnormal_chest_morphology1.27020227
76MP0004233_abnormal_muscle_weight1.23493837
77MP0002118_abnormal_lipid_homeostasis1.23318603
78MP0003868_abnormal_feces_composition1.22618372
79MP0002098_abnormal_vibrissa_morphology1.21899136
80MP0001293_anophthalmia1.20406277
81MP0002277_abnormal_respiratory_mucosa1.19025063
82MP0001501_abnormal_sleep_pattern1.18840515
83MP0000681_abnormal_thyroid_gland1.18676114
84MP0003011_delayed_dark_adaptation1.18394284
85MP0002909_abnormal_adrenal_gland1.17928687
86MP0005367_renal/urinary_system_phenotyp1.17611481
87MP0000516_abnormal_urinary_system1.17611481
88MP0002723_abnormal_immune_serum1.13799243
89MP0001968_abnormal_touch/_nociception1.12693281
90MP0002254_reproductive_system_inflammat1.11766596
91MP0004264_abnormal_extraembryonic_tissu1.11728897
92MP0001845_abnormal_inflammatory_respons1.11070528
93MP0002452_abnormal_antigen_presenting1.08937984
94MP0005248_abnormal_Harderian_gland1.07644876
95MP0005503_abnormal_tendon_morphology1.07082707
96MP0000920_abnormal_myelination1.05798138
97MP0010368_abnormal_lymphatic_system1.04199924
98MP0009745_abnormal_behavioral_response1.03240522
99MP0002090_abnormal_vision1.02765169
100MP0004510_myositis1.02720322
101MP0009643_abnormal_urine_homeostasis1.01650352
102MP0005319_abnormal_enzyme/_coenzyme0.97105941
103* MP0002557_abnormal_social/conspecific_i0.96867001
104MP0002971_abnormal_brown_adipose0.96626622
105MP0005670_abnormal_white_adipose0.95158426
106MP0001800_abnormal_humoral_immune0.94669597
107MP0004947_skin_inflammation0.93448641
108MP0005083_abnormal_biliary_tract0.93440034
109* MP0003879_abnormal_hair_cell0.93318371
110MP0010329_abnormal_lipoprotein_level0.92510708
111MP0003279_aneurysm0.92189462
112MP0004084_abnormal_cardiac_muscle0.91943732
113MP0002064_seizures0.91133859
114MP0005257_abnormal_intraocular_pressure0.91058300
115MP0002075_abnormal_coat/hair_pigmentati0.90888121
116MP0002405_respiratory_system_inflammati0.89217394
117MP0005164_abnormal_response_to0.88939045
118MP0005584_abnormal_enzyme/coenzyme_acti0.88226685
119* MP0002572_abnormal_emotion/affect_behav0.86737154
120MP0003632_abnormal_nervous_system0.86512904
121MP0003656_abnormal_erythrocyte_physiolo0.85917774
122MP0003936_abnormal_reproductive_system0.85462084
123MP0004085_abnormal_heartbeat0.85210352
124MP0001764_abnormal_homeostasis0.84903684
125MP0003385_abnormal_body_wall0.84306703
126MP0005076_abnormal_cell_differentiation0.83494149
127MP0002933_joint_inflammation0.83390827
128MP0009763_increased_sensitivity_to0.82837615
129MP0003828_pulmonary_edema0.82051743
130MP0001819_abnormal_immune_cell0.81202735
131MP0003635_abnormal_synaptic_transmissio0.81085573
132MP0006138_congestive_heart_failure0.80895966
133MP0005501_abnormal_skin_physiology0.79948064
134MP0002420_abnormal_adaptive_immunity0.78771265
135MP0005636_abnormal_mineral_homeostasis0.78752373
136MP0000858_altered_metastatic_potential0.78129236
137MP0010155_abnormal_intestine_physiology0.77401681
138MP0004782_abnormal_surfactant_physiolog0.76830925
139MP0001919_abnormal_reproductive_system0.76593776
140MP0003453_abnormal_keratinocyte_physiol0.76370534
141MP0005389_reproductive_system_phenotype0.75922675
142MP0002102_abnormal_ear_morphology0.75810746
143MP0009115_abnormal_fat_cell0.75615982
144MP0001765_abnormal_ion_homeostasis0.75438995
145MP0000733_abnormal_muscle_development0.75333839
146MP0001756_abnormal_urination0.74964026
147* MP0001486_abnormal_startle_reflex0.74919728
148MP0003806_abnormal_nucleotide_metabolis0.74804712
149MP0004883_abnormal_blood_vessel0.73284077
150MP0010386_abnormal_urinary_bladder0.73199892
151MP0000249_abnormal_blood_vessel0.72915078
152MP0001545_abnormal_hematopoietic_system0.72239239
153MP0005397_hematopoietic_system_phenotyp0.72239239
154MP0003638_abnormal_response/metabolism_0.72058568
155MP0005310_abnormal_salivary_gland0.71226495
156MP0002998_abnormal_bone_remodeling0.70412323
157MP0001502_abnormal_circadian_rhythm0.70036861
158MP0001346_abnormal_lacrimal_gland0.68987957
159MP0004185_abnormal_adipocyte_glucose0.68155814
160MP0005085_abnormal_gallbladder_physiolo0.66376902
161MP0001881_abnormal_mammary_gland0.65204049
162MP0008775_abnormal_heart_ventricle0.63608869
163MP0002638_abnormal_pupillary_reflex0.62869803
164MP0003938_abnormal_ear_development0.62556459
165MP0001970_abnormal_pain_threshold0.62097401
166MP0003795_abnormal_bone_structure0.61014693
167MP0009780_abnormal_chondrocyte_physiolo0.60740541
168MP0002067_abnormal_sensory_capabilities0.60166562
169MP0000372_irregular_coat_pigmentation0.59098977
170MP0003935_abnormal_craniofacial_develop0.58472263
171MP0004019_abnormal_vitamin_homeostasis0.57825528
172MP0000427_abnormal_hair_cycle0.55104720
173* MP0005377_hearing/vestibular/ear_phenot0.54953879
174* MP0003878_abnormal_ear_physiology0.54953879
175MP0002736_abnormal_nociception_after0.54820535
176MP0001186_pigmentation_phenotype0.53644314
177MP0002168_other_aberrant_phenotype0.53574676
178MP0002928_abnormal_bile_duct0.52740873
179MP0003075_altered_response_to0.51935716
180MP0002113_abnormal_skeleton_development0.51777758
181MP0008995_early_reproductive_senescence0.50792398
182MP0002127_abnormal_cardiovascular_syste0.49642153

Predicted human phenotypes

RankGene SetZ-score
1Follicular hyperkeratosis (HP:0007502)9.31687503
2Complement deficiency (HP:0004431)7.89916705
3Glomerulonephritis (HP:0000099)7.88251428
4Systemic lupus erythematosus (HP:0002725)7.73058237
5Absent eyelashes (HP:0000561)7.42412540
6Absent eyebrow (HP:0002223)7.31458271
7Recurrent corneal erosions (HP:0000495)6.62606442
8Dynein arm defect of respiratory motile cilia (HP:0012255)6.61777750
9Absent/shortened dynein arms (HP:0200106)6.61777750
10Cheilitis (HP:0100825)6.39075659
11Chronic otitis media (HP:0000389)6.18315123
12Abnormality of complement system (HP:0005339)6.07895692
13Abnormality of glycolipid metabolism (HP:0010969)5.52068508
14Abnormality of liposaccharide metabolism (HP:0010968)5.52068508
15Abnormality of glycosphingolipid metabolism (HP:0004343)5.52068508
16Deep venous thrombosis (HP:0002625)5.23813111
17Hyperphosphatemia (HP:0002905)5.19496455
18Nephritis (HP:0000123)4.76912816
19Increased cerebral lipofuscin (HP:0011813)4.52366361
20Vacuolated lymphocytes (HP:0001922)4.49022993
21Erythroderma (HP:0001019)4.44096662
22Recurrent gram-negative bacterial infections (HP:0005420)4.32367630
23Dysostosis multiplex (HP:0000943)4.31291305
24Tetany (HP:0001281)4.25377259
25Renal dysplasia (HP:0000110)4.20260278
26Ectropion (HP:0000656)4.07455087
27Prolonged partial thromboplastin time (HP:0003645)4.01366813
28Abnormality of monocarboxylic acid metabolism (HP:0010996)3.90753598
29Increased neuronal autofluorescent lipopigment (HP:0002074)3.84985531
30Abnormal ciliary motility (HP:0012262)3.84547270
31Abnormality of polysaccharide metabolism (HP:0011012)3.83796290
32Abnormality of glycosaminoglycan metabolism (HP:0004371)3.83796290
33Abnormality of mucopolysaccharide metabolism (HP:0011020)3.83796290
34Absent hair (HP:0002298)3.83563670
35Xanthomatosis (HP:0000991)3.83219275
36Mucopolysacchariduria (HP:0008155)3.73936463
37Urinary glycosaminoglycan excretion (HP:0003541)3.73936463
38Joint hemorrhage (HP:0005261)3.71004818
39Abnormal respiratory epithelium morphology (HP:0012253)3.70086395
40Abnormal respiratory motile cilium morphology (HP:0005938)3.70086395
41Mitral stenosis (HP:0001718)3.55320765
42* Abnormality of dental color (HP:0011073)3.53120138
43Blepharitis (HP:0000498)3.51873334
44Chronic sinusitis (HP:0011109)3.48966815
45Abnormality of aromatic amino acid family metabolism (HP:0004338)3.46649292
46Retinal atrophy (HP:0001105)3.32096520
47Palmoplantar hyperkeratosis (HP:0000972)3.18639853
48Rhinitis (HP:0012384)3.15494572
49Optic neuritis (HP:0100653)3.15272269
50Retrobulbar optic neuritis (HP:0100654)3.15272269
51Orchitis (HP:0100796)3.13499544
52Loss of speech (HP:0002371)3.12786357
53Neoplasm of the lung (HP:0100526)3.06752180
54Neurofibrillary tangles (HP:0002185)3.02387771
55Abnormality of macrophages (HP:0004311)3.00974747
56Palmar hyperkeratosis (HP:0010765)2.99379653
57Abnormality of calcium-phosphate metabolism (HP:0100530)2.95774326
58Abnormality of the common coagulation pathway (HP:0010990)2.95365967
59Abnormal respiratory motile cilium physiology (HP:0012261)2.94339880
60Purpura (HP:0000979)2.91693349
61Keratitis (HP:0000491)2.89997713
62Small epiphyses (HP:0010585)2.83180975
63Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.80328242
64Myocardial infarction (HP:0001658)2.79129206
65Nuclear cataract (HP:0100018)2.77766250
66Myositis (HP:0100614)2.76173363
67Vertebral arch anomaly (HP:0008438)2.75057465
68Amyloidosis (HP:0011034)2.74050453
69Plagiocephaly (HP:0001357)2.70984336
70Neoplasm of the respiratory system (HP:0100606)2.68253307
71Hypobetalipoproteinemia (HP:0003563)2.67632050
72Corneal erosion (HP:0200020)2.64788798
73Hemorrhage of the eye (HP:0011885)2.64522030
74Axonal loss (HP:0003447)2.62846150
75Disinhibition (HP:0000734)2.60300519
76Erythema (HP:0010783)2.54533415
77Hypoplasia of the capital femoral epiphysis (HP:0003090)2.52413985
78Urticaria (HP:0001025)2.51893425
79Rectal prolapse (HP:0002035)2.51146880
80Chronic hepatic failure (HP:0100626)2.47577584
81Mutism (HP:0002300)2.45822449
82Intrahepatic cholestasis (HP:0001406)2.43135307
83Arthropathy (HP:0003040)2.39867498
84Pulmonary embolism (HP:0002204)2.34402596
85Plantar hyperkeratosis (HP:0007556)2.31867329
86Abnormal biliary tract physiology (HP:0012439)2.31366689
87Bile duct proliferation (HP:0001408)2.31366689
88Hyperactive renin-angiotensin system (HP:0000841)2.27453736
89Ulnar bowing (HP:0003031)2.26934779
90Hypolipoproteinemia (HP:0010981)2.26136086
91Hypoalphalipoproteinemia (HP:0003233)2.25260492
92Melanoma (HP:0002861)2.24119857
93Thrombophlebitis (HP:0004418)2.24034353
94Decreased circulating renin level (HP:0003351)2.20496500
95Eczematoid dermatitis (HP:0000976)2.20144674
96Metabolic alkalosis (HP:0200114)2.18926465
97Hypophosphatemia (HP:0002148)2.17403908
98Pathologic fracture (HP:0002756)2.15248587
99J-shaped sella turcica (HP:0002680)2.14718457
100Gingival bleeding (HP:0000225)2.14686350
101Coronal craniosynostosis (HP:0004440)2.13583109
102Sparse eyelashes (HP:0000653)2.11381380
103Asymmetric septal hypertrophy (HP:0001670)2.09504987
104Joint swelling (HP:0001386)2.08565802
105Esophageal varix (HP:0002040)2.08230813
106Facial shape deformation (HP:0011334)2.08038491
107Potter facies (HP:0002009)2.08038491
108Hypercholesterolemia (HP:0003124)2.07330598
109Recurrent abscess formation (HP:0002722)2.05912029
110Keratoconjunctivitis sicca (HP:0001097)2.05026455
111Hypohidrosis (HP:0000966)2.04828698
112Abnormality of iron homeostasis (HP:0011031)2.03274609
113Increased serum ferritin (HP:0003281)2.01234287
114Epidermoid cyst (HP:0200040)2.00722184
115Parakeratosis (HP:0001036)11.9177658
116Alopecia of scalp (HP:0002293)10.7818932
117Unilateral renal agenesis (HP:0000122)10.1751590
118Renal agenesis (HP:0000104)1.99764657
119Abnormality of the vasculature of the conjunctiva (HP:0008054)1.99651401
120Cerebral inclusion bodies (HP:0100314)1.98584238
121Congenital sensorineural hearing impairment (HP:0008527)1.97602705
122Abnormality of transition element cation homeostasis (HP:0011030)1.95474665
123Hypoparathyroidism (HP:0000829)1.95046156
124Absent epiphyses (HP:0010577)1.93727705
125Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.93727705
126Abnormality of the periventricular white matter (HP:0002518)1.92681608
127Prolonged neonatal jaundice (HP:0006579)1.87187375
128Osteomalacia (HP:0002749)1.87100969
129Spontaneous abortion (HP:0005268)1.86402306
130Peripheral demyelination (HP:0011096)1.85957171
131Lymphangioma (HP:0100764)1.85676490
132Autoimmune thrombocytopenia (HP:0001973)1.85336325
133Hyperaldosteronism (HP:0000859)1.85250427
134Progressive neurologic deterioration (HP:0002344)1.82895401
135Keratoconjunctivitis (HP:0001096)1.82841567
136Spontaneous hematomas (HP:0007420)1.81572358
137Hyperlipoproteinemia (HP:0010980)1.81553544
138Corneal dystrophy (HP:0001131)1.80087477
139Amelogenesis imperfecta (HP:0000705)1.79937883
140Epistaxis (HP:0000421)1.78597812
141Pulmonary infiltrates (HP:0002113)1.78211954
142Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.74315743
143Rickets (HP:0002748)1.73695477
144Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.73316581
145Progressive visual loss (HP:0000529)1.72943922
146Fat malabsorption (HP:0002630)1.72499992
147Hydroxyprolinuria (HP:0003080)1.71963756
148Abnormality of proline metabolism (HP:0010907)1.71963756
149Beaking of vertebral bodies (HP:0004568)1.71860188
150Abnormality of renin-angiotensin system (HP:0000847)1.71355355
151Hemoptysis (HP:0002105)1.70478911
152Polyneuropathy (HP:0001271)1.69223964
153Septo-optic dysplasia (HP:0100842)1.68405824
154Recurrent bacterial skin infections (HP:0005406)1.68404491
155Mediastinal lymphadenopathy (HP:0100721)1.68369734
156Abnormality of incisor morphology (HP:0011063)1.68355577
157Ulnar claw (HP:0001178)1.67528878
158Abnormality of the renal collecting system (HP:0004742)1.66393351
159Neuronal loss in central nervous system (HP:0002529)1.66373472
160Metaphyseal irregularity (HP:0003025)1.66245047
161White forelock (HP:0002211)1.65886743
162Acne (HP:0001061)1.65688214
163Abnormality of chloride homeostasis (HP:0011422)1.65252296
164Vasculitis (HP:0002633)1.64751509
165Vertebral compression fractures (HP:0002953)1.64264149
166Ectopic kidney (HP:0000086)1.63847455
167Abnormality of glutamine family amino acid metabolism (HP:0010902)1.63525551
168Hypocalcemia (HP:0002901)1.62734183
169Vascular calcification (HP:0004934)1.62578161
170Gangrene (HP:0100758)1.62465882
171Hypergonadotropic hypogonadism (HP:0000815)1.59726384
172Flattened epiphyses (HP:0003071)1.59691339
173Patchy hypopigmentation of hair (HP:0011365)1.58968960
174Duplicated collecting system (HP:0000081)1.54647208
175Convex nasal ridge (HP:0000444)1.52841547
176Abnormality of carpal bone ossification (HP:0006257)1.52761798
177Cardiovascular calcification (HP:0011915)1.50768683
178Hypoglycemic seizures (HP:0002173)1.49762566
179Retinal detachment (HP:0000541)1.47317071
180Conjugated hyperbilirubinemia (HP:0002908)1.46987797
181Nail dystrophy (HP:0008404)1.44217401
182Malignant hyperthermia (HP:0002047)1.43962215
183Omphalocele (HP:0001539)1.43602039
184Aortic regurgitation (HP:0001659)1.42744243
185Lymphopenia (HP:0001888)1.40270259
186Vertebral clefting (HP:0008428)1.40256264
187Oligohydramnios (HP:0001562)1.39039901
188Hypoplasia of the iris (HP:0007676)1.35437416
189Cutaneous finger syndactyly (HP:0010554)1.30877758
190Neonatal hypoglycemia (HP:0001998)1.30076788
191Widely spaced teeth (HP:0000687)1.29929834
192Vesicoureteral reflux (HP:0000076)1.29620781
193Bowed forearm bones (HP:0003956)1.29612232
194Bowing of the arm (HP:0006488)1.29612232
195Split hand (HP:0001171)1.29612108
196Fetal akinesia sequence (HP:0001989)1.28773605
197Abnormality of cells of the lymphoid lineage (HP:0012140)1.28271050
198Scapular winging (HP:0003691)1.27519597

Predicted kinase interactions (KEA)

RankGene SetZ-score
1SIK27.23744219
2SIK17.05725225
3MARK33.86031954
4EPHA23.39798982
5PAK42.97498639
6IRAK32.74672669
7BLK2.72948840
8LATS12.71732118
9ERN12.59148062
10TBK12.09687524
11FGFR42.02217861
12RIPK12.02078703
13SIK310.0571160
14TYK21.83856992
15MATK1.80116483
16JAK11.68131676
17MARK21.61567104
18LATS21.59833318
19STK38L1.50499923
20MAP2K61.48079824
21GRK71.44645202
22AKT31.43865069
23PRPF4B1.42858881
24IKBKB1.41792596
25MAP3K31.41222198
26WNK41.41067289
27CDK81.32616617
28WNK11.30410150
29ZAP701.28733868
30MAP3K121.28220408
31EPHA41.23295703
32TAOK31.20185190
33STK381.20169683
34CDC42BPA1.20070397
35BCKDK1.12568024
36NME11.11670386
37NME21.11484881
38PDPK11.10273081
39FGFR31.06271820
40IKBKE1.04298441
41BMPR21.03818614
42PDK11.01624750
43JAK30.99699367
44KDR0.99265489
45STK390.96862635
46MAP2K30.95598184
47ADRBK20.95585644
48JAK20.95178382
49CHUK0.89499597
50PDK20.88417163
51CAMK10.87321969
52TAOK10.86148627
53EPHA30.85349712
54CAMKK20.84664895
55TRPM70.82568841
56NTRK30.81733869
57CSNK1A1L0.78947108
58CSNK1D0.76763119
59SYK0.75386905
60ABL20.75130965
61ACVR1B0.70303775
62MAPK130.70185289
63OXSR10.69477404
64KIT0.69395392
65MAP2K40.68894375
66SGK20.68311335
67MOS0.66238236
68TYRO30.65889067
69TIE10.64180991
70EPHB10.64159833
71IGF1R0.63963016
72LCK0.63709615
73TNIK0.63563404
74MAP3K10.63008272
75CAMK40.57556077
76MST1R0.57296435
77SGK30.55372909
78GRK60.53557292
79PINK10.53197589
80IRAK10.52631763
81CSNK1G30.51892139
82CDK60.51715432
83EEF2K0.51020431
84TESK20.50077526
85PIM20.47993332
86PDGFRA0.47793693
87RET0.47765605
88IRAK40.46891853
89MAPK70.46578613
90MAP3K60.46182761
91NEK90.45879120
92ALK0.43477993
93DYRK1B0.43384672
94TAOK20.42571347
95SGK2230.42165406
96SGK4940.42165406
97STK30.41860679
98CDK70.41718139
99FGR0.40471231
100CSNK1G20.39855611
101PRKD30.39482825
102CSNK1G10.38893770
103TXK0.38856196
104TNK20.38736314
105PRKAA10.37781703
106MAP3K110.36742451
107MAPK110.36721844
108PRKAA20.33637891
109EPHB20.31500249
110FER0.31011190
111DAPK20.30779313
112BRD40.29283364
113RPS6KL10.28346095
114RPS6KC10.28346095
115RIPK40.28082542
116PRKG10.26236366
117MAP3K130.24898726
118SGK10.24607403
119MAP2K20.24082735
120MAP3K70.23997386
121INSR0.22076464
122PKN10.21359055
123CAMK1G0.21220882
124SRPK10.20560252
125MAP3K40.19551191
126RPS6KA60.19202986
127CDK40.18522717
128SRC0.17801004
129FES0.17349483
130FYN0.16633262
131ICK0.15967130
132CAMK1D0.13773441
133NTRK20.12713718
134INSRR0.11827679
135TTN0.11660994
136AKT10.11191950
137MET0.11138465
138DDR20.10662696
139BMX0.10295287
140PRKCQ0.08988780
141NTRK10.08464972
142PTK60.08459144
143CSK0.08059918
144PRKCH0.07610667
145TGFBR20.06845188
146TRIB30.06712839
147ERBB20.06704519
148MAP4K10.05866782
149HCK0.05010926
150CDK120.04354997
151MAPK120.04337725
152RPS6KA40.03933802
153LYN0.03329611
154MAP3K50.03270238
155CSF1R0.02639475
156CAMK2A0.02222994
157MAPK80.02083864
158PKN20.02069940
159STK100.01820442
160PTK2B0.01712080
161MAP3K140.01520722

Predicted pathways (KEGG)

RankGene SetZ-score
1Mineral absorption_Homo sapiens_hsa049783.71894226
2Other glycan degradation_Homo sapiens_hsa005113.70270920
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.21242671
4Primary bile acid biosynthesis_Homo sapiens_hsa001202.79681663
5Nicotine addiction_Homo sapiens_hsa050332.77858554
6Lysosome_Homo sapiens_hsa041422.46233058
7Steroid hormone biosynthesis_Homo sapiens_hsa001402.44357434
8Axon guidance_Homo sapiens_hsa043602.37333305
9Arginine biosynthesis_Homo sapiens_hsa002202.22515867
10Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.07342867
11Lysine degradation_Homo sapiens_hsa003102.06214469
12Toll-like receptor signaling pathway_Homo sapiens_hsa046202.01511021
13Calcium signaling pathway_Homo sapiens_hsa040201.94920627
14Prion diseases_Homo sapiens_hsa050201.89339318
15Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.81101679
16Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.77735470
17Tryptophan metabolism_Homo sapiens_hsa003801.73167429
18Renal cell carcinoma_Homo sapiens_hsa052111.72294127
19Ovarian steroidogenesis_Homo sapiens_hsa049131.71757891
20Histidine metabolism_Homo sapiens_hsa003401.71030731
21Type II diabetes mellitus_Homo sapiens_hsa049301.70404109
22Morphine addiction_Homo sapiens_hsa050321.65636706
23Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.61051413
24Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.60134500
25Retinol metabolism_Homo sapiens_hsa008301.55348403
26PPAR signaling pathway_Homo sapiens_hsa033201.54941975
27Melanoma_Homo sapiens_hsa052181.54741768
28Synaptic vesicle cycle_Homo sapiens_hsa047211.54538225
29Phenylalanine metabolism_Homo sapiens_hsa003601.51613076
30Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.50699085
31GABAergic synapse_Homo sapiens_hsa047271.45501666
32Fatty acid degradation_Homo sapiens_hsa000711.44540715
33Caffeine metabolism_Homo sapiens_hsa002321.42176891
34Pentose and glucuronate interconversions_Homo sapiens_hsa000401.41021914
35Tyrosine metabolism_Homo sapiens_hsa003501.39856315
36Primary immunodeficiency_Homo sapiens_hsa053401.37839486
37Serotonergic synapse_Homo sapiens_hsa047261.33969192
38Circadian entrainment_Homo sapiens_hsa047131.33941205
39Chemical carcinogenesis_Homo sapiens_hsa052041.33008227
40Phosphatidylinositol signaling system_Homo sapiens_hsa040701.31064324
41Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.30340095
42Vitamin B6 metabolism_Homo sapiens_hsa007501.28257234
43Rheumatoid arthritis_Homo sapiens_hsa053231.27678127
44Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.25933493
45Glutamatergic synapse_Homo sapiens_hsa047241.25212523
46Taste transduction_Homo sapiens_hsa047421.24597052
47Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.19250449
48Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.18283539
49SNARE interactions in vesicular transport_Homo sapiens_hsa041301.15834427
50Gastric acid secretion_Homo sapiens_hsa049711.14684379
51Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.14289852
52Aldosterone synthesis and secretion_Homo sapiens_hsa049251.12230939
53Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.09028965
54Ras signaling pathway_Homo sapiens_hsa040141.07868208
55Drug metabolism - other enzymes_Homo sapiens_hsa009831.06906724
56Notch signaling pathway_Homo sapiens_hsa043301.06229999
57Regulation of actin cytoskeleton_Homo sapiens_hsa048101.05447638
58ErbB signaling pathway_Homo sapiens_hsa040121.04860153
59Staphylococcus aureus infection_Homo sapiens_hsa051501.04783498
60Cyanoamino acid metabolism_Homo sapiens_hsa004601.03688141
61African trypanosomiasis_Homo sapiens_hsa051431.03445871
62Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.99346000
63Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.97132069
64Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.96852988
65Tuberculosis_Homo sapiens_hsa051520.94006794
66Renin secretion_Homo sapiens_hsa049240.93829044
67Starch and sucrose metabolism_Homo sapiens_hsa005000.91685461
68Collecting duct acid secretion_Homo sapiens_hsa049660.91043303
69Complement and coagulation cascades_Homo sapiens_hsa046100.89505645
70Carbohydrate digestion and absorption_Homo sapiens_hsa049730.89319644
71Malaria_Homo sapiens_hsa051440.88662976
72Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.88196297
73Rap1 signaling pathway_Homo sapiens_hsa040150.87603446
74Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.87051816
75Phagosome_Homo sapiens_hsa041450.86897129
76Insulin secretion_Homo sapiens_hsa049110.85498381
77Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.85477936
78Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.84674458
79Salivary secretion_Homo sapiens_hsa049700.84487310
80Long-term depression_Homo sapiens_hsa047300.84408631
81Fat digestion and absorption_Homo sapiens_hsa049750.84181310
82Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.83075796
83Butanoate metabolism_Homo sapiens_hsa006500.81175895
84Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.81084207
85Hematopoietic cell lineage_Homo sapiens_hsa046400.80249305
86Cholinergic synapse_Homo sapiens_hsa047250.80153190
87Legionellosis_Homo sapiens_hsa051340.79470194
88Circadian rhythm_Homo sapiens_hsa047100.77569029
89Adipocytokine signaling pathway_Homo sapiens_hsa049200.76119141
90Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.75471734
91Wnt signaling pathway_Homo sapiens_hsa043100.75151267
92Asthma_Homo sapiens_hsa053100.74316533
93Galactose metabolism_Homo sapiens_hsa000520.73730352
94Allograft rejection_Homo sapiens_hsa053300.73704070
95Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.73067950
96Arachidonic acid metabolism_Homo sapiens_hsa005900.72689250
97T cell receptor signaling pathway_Homo sapiens_hsa046600.72321420
98Vitamin digestion and absorption_Homo sapiens_hsa049770.71878063
99Adherens junction_Homo sapiens_hsa045200.70686183
100cAMP signaling pathway_Homo sapiens_hsa040240.70061224
101TNF signaling pathway_Homo sapiens_hsa046680.67456039
102NOD-like receptor signaling pathway_Homo sapiens_hsa046210.67259635
103Peroxisome_Homo sapiens_hsa041460.65880554
104Toxoplasmosis_Homo sapiens_hsa051450.65163625
105Amoebiasis_Homo sapiens_hsa051460.64529524
106Linoleic acid metabolism_Homo sapiens_hsa005910.64011140
107Sphingolipid metabolism_Homo sapiens_hsa006000.63708763
108beta-Alanine metabolism_Homo sapiens_hsa004100.63519532
109MicroRNAs in cancer_Homo sapiens_hsa052060.63228457
110Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.63226923
111Leukocyte transendothelial migration_Homo sapiens_hsa046700.62414861
112Fatty acid metabolism_Homo sapiens_hsa012120.62306662
113Fatty acid biosynthesis_Homo sapiens_hsa000610.60741901
114Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.60701180
115Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.59489645
116Graft-versus-host disease_Homo sapiens_hsa053320.58792057
117Intestinal immune network for IgA production_Homo sapiens_hsa046720.57927573
118Dilated cardiomyopathy_Homo sapiens_hsa054140.57726501
119NF-kappa B signaling pathway_Homo sapiens_hsa040640.57309949
120Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.56207259
121Oxytocin signaling pathway_Homo sapiens_hsa049210.56077767
122Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.56058925
123MAPK signaling pathway_Homo sapiens_hsa040100.55867534
124Vibrio cholerae infection_Homo sapiens_hsa051100.54453956
125Antigen processing and presentation_Homo sapiens_hsa046120.54318695
126ECM-receptor interaction_Homo sapiens_hsa045120.51539428
127Salmonella infection_Homo sapiens_hsa051320.51174075
128Arginine and proline metabolism_Homo sapiens_hsa003300.50734114
129Autoimmune thyroid disease_Homo sapiens_hsa053200.49840285
130Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.49560795
131PI3K-Akt signaling pathway_Homo sapiens_hsa041510.49492979
132Bile secretion_Homo sapiens_hsa049760.49284713
133Glycosaminoglycan degradation_Homo sapiens_hsa005310.49193034
134Fructose and mannose metabolism_Homo sapiens_hsa000510.48788234
135Insulin resistance_Homo sapiens_hsa049310.48726785
136Focal adhesion_Homo sapiens_hsa045100.48686389
137Glycerolipid metabolism_Homo sapiens_hsa005610.47998760
138Choline metabolism in cancer_Homo sapiens_hsa052310.47475068
139Cocaine addiction_Homo sapiens_hsa050300.47384284
140Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.47146423
141FoxO signaling pathway_Homo sapiens_hsa040680.47057878
142Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.46716913
143Long-term potentiation_Homo sapiens_hsa047200.45935933
144Phospholipase D signaling pathway_Homo sapiens_hsa040720.45446471
145HTLV-I infection_Homo sapiens_hsa051660.44766871
146Nitrogen metabolism_Homo sapiens_hsa009100.44656548
147ABC transporters_Homo sapiens_hsa020100.43784957
148Glioma_Homo sapiens_hsa052140.43637944
149Jak-STAT signaling pathway_Homo sapiens_hsa046300.43564214
150Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.43452382
151Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.42580622
152Dopaminergic synapse_Homo sapiens_hsa047280.41625957
153RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.41604173
154Leishmaniasis_Homo sapiens_hsa051400.41455379
155Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.41392162
156Steroid biosynthesis_Homo sapiens_hsa001000.41106032
157Pertussis_Homo sapiens_hsa051330.41034845
158Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.40901372
159Osteoclast differentiation_Homo sapiens_hsa043800.40662021
160Renin-angiotensin system_Homo sapiens_hsa046140.39106277
161Estrogen signaling pathway_Homo sapiens_hsa049150.38719230
162alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.38096544
163Pancreatic secretion_Homo sapiens_hsa049720.38077788
164cGMP-PKG signaling pathway_Homo sapiens_hsa040220.37994813
165Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.37487021
166Type I diabetes mellitus_Homo sapiens_hsa049400.35101253
167Influenza A_Homo sapiens_hsa051640.34059422
168B cell receptor signaling pathway_Homo sapiens_hsa046620.34018593
169Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.31075359
170Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.26029150

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