TBX18

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 genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axon ensheathment in central nervous system (GO:0032291)9.53219523
2central nervous system myelination (GO:0022010)9.53219523
3collagen fibril organization (GO:0030199)5.47331912
4myelination (GO:0042552)5.39051467
5axon ensheathment (GO:0008366)5.36530420
6ensheathment of neurons (GO:0007272)5.36530420
7fatty acid elongation (GO:0030497)5.23464823
8cell migration involved in heart development (GO:0060973)5.17824367
9long-chain fatty acid biosynthetic process (GO:0042759)4.93257921
10kidney mesenchyme development (GO:0072074)4.69534881
11neural crest cell development (GO:0014032)4.39591026
12sequestering of extracellular ligand from receptor (GO:0035581)4.34172513
13limb bud formation (GO:0060174)4.31903295
14metanephric mesenchyme development (GO:0072075)4.22999536
15negative regulation of protein localization to cell surface (GO:2000009)4.22966372
16protein heterotrimerization (GO:0070208)4.17894268
17import into cell (GO:0098657)4.03058000
18L-amino acid import (GO:0043092)4.00211261
19presynaptic membrane organization (GO:0097090)3.96513278
20endodermal cell differentiation (GO:0035987)3.94954414
21negative regulation of neurotransmitter secretion (GO:0046929)3.93782652
22presynaptic membrane assembly (GO:0097105)3.93038509
23extracellular fibril organization (GO:0043206)3.90201241
24mesenchymal cell development (GO:0014031)3.87148588
25negative regulation of neurotransmitter transport (GO:0051589)3.84681578
26photoreceptor cell differentiation (GO:0046530)3.81482385
27eye photoreceptor cell differentiation (GO:0001754)3.81482385
28chondrocyte proliferation (GO:0035988)3.79237716
29cerebral cortex radially oriented cell migration (GO:0021799)3.73137214
30lymph vessel development (GO:0001945)3.68020519
31positive regulation of endothelial cell apoptotic process (GO:2000353)3.63599922
32cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.62504813
33peripheral nervous system axon ensheathment (GO:0032292)3.54996739
34myelination in peripheral nervous system (GO:0022011)3.54996739
35basement membrane organization (GO:0071711)3.54755400
36oligodendrocyte differentiation (GO:0048709)3.51969443
37regulation of collateral sprouting (GO:0048670)3.50446066
38cell-substrate junction assembly (GO:0007044)3.48636835
39nuclear pore complex assembly (GO:0051292)3.45532805
40regulation of transforming growth factor beta2 production (GO:0032909)3.44898979
41blood vessel maturation (GO:0001955)3.44086056
42extracellular matrix assembly (GO:0085029)3.41577697
43negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.41099824
44regulation of cardioblast differentiation (GO:0051890)3.39731769
45focal adhesion assembly (GO:0048041)3.38614833
46cell-substrate adherens junction assembly (GO:0007045)3.38614833
47collagen metabolic process (GO:0032963)3.37465239
48adherens junction assembly (GO:0034333)3.37182589
49wound healing, spreading of epidermal cells (GO:0035313)3.36736163
50neuron remodeling (GO:0016322)3.36500926
51negative regulation of peptidyl-threonine phosphorylation (GO:0010801)3.35077818
52mesenchymal-epithelial cell signaling (GO:0060638)3.34261357
53lateral sprouting from an epithelium (GO:0060601)3.32143794
54renal filtration (GO:0097205)3.31348061
55astrocyte development (GO:0014002)3.29691841
56fibril organization (GO:0097435)3.26811303
57glomerular basement membrane development (GO:0032836)3.25859470
58myelin maintenance (GO:0043217)3.20992034
59collagen catabolic process (GO:0030574)3.20383516
60glomerular filtration (GO:0003094)3.17968303
61positive regulation of odontogenesis (GO:0042482)3.17558206
62multicellular organismal macromolecule metabolic process (GO:0044259)3.16755678
63negative regulation of fatty acid transport (GO:2000192)3.16255568
64skin morphogenesis (GO:0043589)3.14250432
65negative regulation of chondrocyte differentiation (GO:0032331)3.13145961
66positive regulation of action potential (GO:0045760)3.12843527
67amino acid import (GO:0043090)3.11334339
68positive regulation of oligodendrocyte differentiation (GO:0048714)3.08853963
69retina vasculature morphogenesis in camera-type eye (GO:0061299)3.08306605
70response to redox state (GO:0051775)3.04905414
71response to methylmercury (GO:0051597)3.04744623
72lymphangiogenesis (GO:0001946)3.04562798
73peptidyl-proline hydroxylation (GO:0019511)3.02691458
74embryonic cranial skeleton morphogenesis (GO:0048701)3.01118385
75regulation of somitogenesis (GO:0014807)3.00946713
76glycerophospholipid catabolic process (GO:0046475)3.00887275
77endothelial cell morphogenesis (GO:0001886)2.99214677
78organ growth (GO:0035265)2.98642575
79stem cell development (GO:0048864)2.98422738
80multicellular organismal metabolic process (GO:0044236)2.97901126
81nuclear pore organization (GO:0006999)2.97459689
82vascular endothelial growth factor signaling pathway (GO:0038084)2.97032791
83negative regulation of myoblast differentiation (GO:0045662)2.97005631
84isoprenoid biosynthetic process (GO:0008299)2.96857436
85regulation of heart morphogenesis (GO:2000826)2.95698897
86middle ear morphogenesis (GO:0042474)2.95399831
87dermatan sulfate biosynthetic process (GO:0030208)2.95394936
88atrial septum morphogenesis (GO:0060413)2.94458138
89ventricular cardiac muscle cell development (GO:0055015)2.93926373
90establishment of mitochondrion localization (GO:0051654)2.91804152
91regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.90480452
92embryonic heart tube development (GO:0035050)2.88180332
93cell adhesion mediated by integrin (GO:0033627)2.88127173
94protein hydroxylation (GO:0018126)2.86981434
95multicellular organismal catabolic process (GO:0044243)2.86858793
96negative regulation of synaptic transmission, GABAergic (GO:0032229)2.86731036
97positive regulation of blood vessel endothelial cell migration (GO:0043536)2.86697291
98coronary vasculature morphogenesis (GO:0060977)2.86405129
99dermatan sulfate metabolic process (GO:0030205)2.85792707
100cholesterol biosynthetic process (GO:0006695)2.85571465
101regulation of lipoprotein metabolic process (GO:0050746)2.84128501
102embryonic forelimb morphogenesis (GO:0035115)2.83623956
103COPI coating of Golgi vesicle (GO:0048205)2.83456273
104Golgi transport vesicle coating (GO:0048200)2.83456273
105endocardial cushion development (GO:0003197)2.82620095
106regulation of secondary heart field cardioblast proliferation (GO:0003266)2.80484302
107regulation of cardioblast proliferation (GO:0003264)2.80484302
108cell migration involved in sprouting angiogenesis (GO:0002042)2.79673718
109embryonic skeletal joint morphogenesis (GO:0060272)2.78816124
110pericardium development (GO:0060039)2.78406327
111artery morphogenesis (GO:0048844)2.77410796
112axon extension involved in axon guidance (GO:0048846)2.75560645
113neuron projection extension involved in neuron projection guidance (GO:1902284)2.75560645
114extracellular matrix disassembly (GO:0022617)2.74813007
115negative regulation of smooth muscle cell migration (GO:0014912)2.74472417
116neuron cell-cell adhesion (GO:0007158)2.73907715
117cranial nerve development (GO:0021545)2.73232651
118hemidesmosome assembly (GO:0031581)2.73012621
119trabecula formation (GO:0060343)2.72791882
120asymmetric protein localization (GO:0008105)2.72187181
121planar cell polarity pathway involved in neural tube closure (GO:0090179)2.71754087
122protein localization to cell surface (GO:0034394)2.71361284
123chondrocyte development (GO:0002063)2.71186748
124smooth muscle tissue development (GO:0048745)2.70528758
125muscle cell proliferation (GO:0033002)2.70522007
126retina layer formation (GO:0010842)2.68195621
127substrate-dependent cell migration (GO:0006929)2.68180804
128apical protein localization (GO:0045176)2.67549362
129negative regulation of catenin import into nucleus (GO:0035414)2.66632339
130regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.66240209
131substrate adhesion-dependent cell spreading (GO:0034446)2.66026561
132regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.64101518
133paraxial mesoderm development (GO:0048339)2.63850685
134developmental pigmentation (GO:0048066)2.63205971
135desmosome organization (GO:0002934)2.62585995
136neurotransmitter uptake (GO:0001504)2.61956595
137positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.59330678
138positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-2.57624616
139regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.57478140
140short-term memory (GO:0007614)2.56254460
141negative regulation of execution phase of apoptosis (GO:1900118)2.55315294
142cranial nerve morphogenesis (GO:0021602)2.55153772
143extracellular negative regulation of signal transduction (GO:1900116)2.55151191
144extracellular regulation of signal transduction (GO:1900115)2.55151191
145negative regulation of DNA repair (GO:0045738)2.55080232
146nucleotide transmembrane transport (GO:1901679)2.54175273
147GPI anchor biosynthetic process (GO:0006506)2.53643029
148outer ear morphogenesis (GO:0042473)2.53582910
149sterol biosynthetic process (GO:0016126)2.52862896
150extracellular matrix organization (GO:0030198)2.52214545
151positive regulation of protein kinase C signaling (GO:0090037)2.52068505
152extracellular structure organization (GO:0043062)2.51581705
153forelimb morphogenesis (GO:0035136)2.51478953
154heart morphogenesis (GO:0003007)2.51439744
155type B pancreatic cell proliferation (GO:0044342)2.51263699
156GPI anchor metabolic process (GO:0006505)2.49904825
157magnesium ion transport (GO:0015693)2.46291950
158negative regulation of leukocyte chemotaxis (GO:0002689)2.46000287
159otic vesicle formation (GO:0030916)2.45775566
160membrane assembly (GO:0071709)2.45414179
161protein palmitoylation (GO:0018345)2.45145226
162regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.44996895
163positive regulation of glial cell differentiation (GO:0045687)2.43265528
164cellular response to epinephrine stimulus (GO:0071872)2.42997538
165positive regulation of smooth muscle cell migration (GO:0014911)2.42218088
166mesenchymal cell differentiation involved in renal system development (GO:2001012)2.42000050
167mesenchymal cell differentiation involved in kidney development (GO:0072161)2.42000050
168neuronal action potential propagation (GO:0019227)2.41515835
169regulation of pigment cell differentiation (GO:0050932)2.41323751
170negative regulation of Rho protein signal transduction (GO:0035024)2.40800144
171enteric nervous system development (GO:0048484)2.40281911
172branch elongation of an epithelium (GO:0060602)2.40142547
173axon development (GO:0061564)2.39734391
174transmission of nerve impulse (GO:0019226)2.38843451
175omega-hydroxylase P450 pathway (GO:0097267)2.36545960
176substantia nigra development (GO:0021762)2.35983166
177peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.34596197
178creatine metabolic process (GO:0006600)2.33751483
179neuron recognition (GO:0008038)2.33467460
180cardiac epithelial to mesenchymal transition (GO:0060317)2.33343741
181bone trabecula formation (GO:0060346)2.32941038
182cerebral cortex cell migration (GO:0021795)2.32028219
183protein neddylation (GO:0045116)2.30137645
184response to lipoprotein particle (GO:0055094)2.29760603
185positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)2.29682582
186cyclic nucleotide catabolic process (GO:0009214)2.29454153
187polyol transport (GO:0015791)2.28040006
188preassembly of GPI anchor in ER membrane (GO:0016254)2.27993070
189heart valve formation (GO:0003188)2.25916288
190adult walking behavior (GO:0007628)2.25808756
191amyloid precursor protein metabolic process (GO:0042982)2.25687118
192peptidyl-tyrosine autophosphorylation (GO:0038083)2.23683343
193negative regulation of exocytosis (GO:0045920)2.22317876
194response to epinephrine (GO:0071871)2.21581586
195Sertoli cell development (GO:0060009)2.20155120
196negative regulation of axonogenesis (GO:0050771)2.18153135
197negative regulation of axon extension (GO:0030517)2.18116516
198regulation of timing of cell differentiation (GO:0048505)2.17749306

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.88067289
2TP63_17297297_ChIP-ChIP_HaCaT_Human4.03200504
3GBX2_23144817_ChIP-Seq_PC3_Human3.60122596
4RARG_19884340_ChIP-ChIP_MEFs_Mouse3.53737196
5FOXM1_23109430_ChIP-Seq_U2OS_Human3.04440971
6* BRD4_25478319_ChIP-Seq_HGPS_Human2.77085678
7EGR1_19374776_ChIP-ChIP_THP-1_Human2.70839905
8EZH2_22144423_ChIP-Seq_EOC_Human2.66694983
9* EED_16625203_ChIP-ChIP_MESCs_Mouse2.66356826
10* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.63599652
11NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.62452777
12* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.60200078
13AR_21909140_ChIP-Seq_LNCAP_Human2.60053016
14* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.56669168
15TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.50063421
16* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.44948000
17* EZH2_27304074_Chip-Seq_ESCs_Mouse2.42428068
18CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.41905004
19* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.39491749
20SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.30831573
21* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.29560718
22* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.29560718
23TAF15_26573619_Chip-Seq_HEK293_Human2.26322421
24SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.25787136
25* CJUN_26792858_Chip-Seq_BT549_Human2.24405594
26HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse2.22466272
27CLOCK_20551151_ChIP-Seq_293T_Human2.20544147
28VDR_22108803_ChIP-Seq_LS180_Human2.20374759
29ZFP57_27257070_Chip-Seq_ESCs_Mouse2.20291895
30* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.18222904
31TRIM28_21343339_ChIP-Seq_HEK293_Human2.16943715
32* CBX2_27304074_Chip-Seq_ESCs_Mouse2.07526066
33TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.06751223
34WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.05495645
35* RNF2_16625203_ChIP-ChIP_MESCs_Mouse2.05131052
36* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.04853152
37* PHC1_16625203_ChIP-ChIP_MESCs_Mouse2.03337347
38CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.02601253
39SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.97028242
40* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.95033629
41CDX2_19796622_ChIP-Seq_MESCs_Mouse1.90690912
42POU3F2_20337985_ChIP-ChIP_501MEL_Human1.85280674
43* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.84751787
44AR_21572438_ChIP-Seq_LNCaP_Human1.83789664
45* EZH2_27294783_Chip-Seq_ESCs_Mouse1.81388718
46* RNF2_27304074_Chip-Seq_ESCs_Mouse1.80560377
47PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.80441743
48P300_27058665_Chip-Seq_ZR-75-30cells_Human1.78147020
49GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.77700424
50ELK3_25401928_ChIP-Seq_HUVEC_Human1.77616080
51* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.77207011
52* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.72640555
53SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.66685484
54UBF1/2_26484160_Chip-Seq_HMECs_Human1.66004192
55SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.65092047
56SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.65092047
57NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.64943596
58PIAS1_25552417_ChIP-Seq_VCAP_Human1.64911942
59WT1_19549856_ChIP-ChIP_CCG9911_Human1.64722377
60* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.64665722
61SMAD3_21741376_ChIP-Seq_EPCs_Human1.63469760
62P300_19829295_ChIP-Seq_ESCs_Human1.60356395
63TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.60346408
64ER_23166858_ChIP-Seq_MCF-7_Human1.58164887
65SALL4_18804426_ChIP-ChIP_XEN_Mouse1.57233703
66CTBP1_25329375_ChIP-Seq_LNCAP_Human1.57139689
67SOX9_24532713_ChIP-Seq_HFSC_Mouse1.56593212
68TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.56270537
69EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.55925906
70CTBP2_25329375_ChIP-Seq_LNCAP_Human1.54606380
71GATA2_21666600_ChIP-Seq_HMVEC_Human1.53745184
72* TP53_20018659_ChIP-ChIP_R1E_Mouse1.53243491
73HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.52966681
74KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.52924948
75GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.52237821
76* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.45662004
77DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.45380883
78* FUS_26573619_Chip-Seq_HEK293_Human1.45332595
79PCGF2_27294783_Chip-Seq_ESCs_Mouse1.44737419
80BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.41806241
81TBX20_22328084_ChIP-Seq_HEART_Mouse1.41305508
82TBX20_22080862_ChIP-Seq_HEART_Mouse1.41305508
83HIF1A_21447827_ChIP-Seq_MCF-7_Human1.41060597
84PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.39555069
85POU5F1_16153702_ChIP-ChIP_HESCs_Human1.39468797
86* RNF2_27304074_Chip-Seq_NSC_Mouse1.38409414
87MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.38016120
88SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.37293054
89PPAR_26484153_Chip-Seq_NCI-H1993_Human1.34329394
90PCGF2_27294783_Chip-Seq_NPCs_Mouse1.32835813
91FLI1_27457419_Chip-Seq_LIVER_Mouse1.32515856
92NANOG_18555785_Chip-Seq_ESCs_Mouse1.32190795
93* FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.31558409
94EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.31343635
95TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.30843442
96TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.30064063
97TOP2B_26459242_ChIP-Seq_MCF-7_Human1.30014551
98ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.29965097
99TP53_22127205_ChIP-Seq_IMR90_Human1.29500173
100* TP53_18474530_ChIP-ChIP_U2OS_Human1.28637601
101TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.28284722
102* EP300_21415370_ChIP-Seq_HL-1_Mouse1.27338769
103* SMAD4_21799915_ChIP-Seq_A2780_Human1.26895639
104AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.25399057
105NRF2_20460467_ChIP-Seq_MEFs_Mouse1.25394720
106NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.25394720
107ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.25385545
108* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.24261367
109NFIB_24661679_ChIP-Seq_LUNG_Mouse1.23643442
110SMC1_22415368_ChIP-Seq_MEFs_Mouse1.23057562
111CMYC_18555785_Chip-Seq_ESCs_Mouse1.22181125
112SUZ12_27294783_Chip-Seq_NPCs_Mouse1.22036700
113JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.21849959
114DROSHA_22980978_ChIP-Seq_HELA_Human1.21567421
115MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.21404139
116SUZ12_18555785_Chip-Seq_ESCs_Mouse1.19659042
117SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.19499647
118E2F1_18555785_Chip-Seq_ESCs_Mouse1.18764189
119JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.18724090
120SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.18660334
121ARNT_22903824_ChIP-Seq_MCF-7_Human1.18074802
122ZNF217_24962896_ChIP-Seq_MCF-7_Human1.17795443
123STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.16771377
124GATA4_21415370_ChIP-Seq_HL-1_Mouse1.15710174
125* TP53_16413492_ChIP-PET_HCT116_Human1.15460743
126VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.15405908
127CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.14807973
128TP63_19390658_ChIP-ChIP_HaCaT_Human1.14741893
129SA1_22415368_ChIP-Seq_MEFs_Mouse1.14740217
130EZH2_27294783_Chip-Seq_NPCs_Mouse1.14490504
131SMAD_19615063_ChIP-ChIP_OVARY_Human1.14443208
132P53_22387025_ChIP-Seq_ESCs_Mouse1.13516312
133STAT3_23295773_ChIP-Seq_U87_Human1.13008302
134IGF1R_20145208_ChIP-Seq_DFB_Human1.12931311
135TP53_23651856_ChIP-Seq_MEFs_Mouse1.11864079
136ISL1_27105846_Chip-Seq_CPCs_Mouse1.11494068
137P300_18555785_Chip-Seq_ESCs_Mouse1.11438028
138EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.10852614
139AHR_22903824_ChIP-Seq_MCF-7_Human1.10630518
140KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.10214419
141* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.09635669
142CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.08902637
143TAL1_26923725_Chip-Seq_HPCs_Mouse1.06906727
144SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.06895293
145TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.05992012
146EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.05140299
147UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.04422374
148STAT3_18555785_Chip-Seq_ESCs_Mouse1.04304593
149CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.03861192
150* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.03830286
151KDM2B_26808549_Chip-Seq_REH_Human1.03788788
152* RING1B_27294783_Chip-Seq_NPCs_Mouse1.03599467
153NFE2_27457419_Chip-Seq_LIVER_Mouse1.03218372
154EWS_26573619_Chip-Seq_HEK293_Human1.03072313
155LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02143201
156PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.01589906
157* RUNX2_22187159_ChIP-Seq_PCA_Human1.01581507
158PRDM14_20953172_ChIP-Seq_ESCs_Human1.01422085
159CTNNB1_20460455_ChIP-Seq_HCT116_Human1.01381741
160* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.00809309
161* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse1.00763454
162ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.00576163
163PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.99503420
164ATF3_27146783_Chip-Seq_COLON_Human0.97714191
165RBPJ_22232070_ChIP-Seq_NCS_Mouse0.93903621
166ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.90483669
167E2F4_17652178_ChIP-ChIP_JURKAT_Human0.90121539
168TBX3_20139965_ChIP-Seq_MESCs_Mouse0.89928480
169TBX3_20139965_ChIP-Seq_ESCs_Mouse0.89818884
170HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.88309097
171* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.88128178

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003705_abnormal_hypodermis_morpholog4.58246401
2MP0000920_abnormal_myelination3.64558554
3MP0003136_yellow_coat_color3.45291835
4MP0005171_absent_coat_pigmentation3.35156588
5MP0005503_abnormal_tendon_morphology3.20405447
6MP0003950_abnormal_plasma_membrane3.16532044
7MP0003279_aneurysm3.05048009
8MP0003880_abnormal_central_pattern3.00013562
9MP0008438_abnormal_cutaneous_collagen2.87157712
10MP0004742_abnormal_vestibular_system2.49802975
11MP0002102_abnormal_ear_morphology2.45909948
12MP0000566_synostosis2.37726443
13MP0005409_darkened_coat_color2.33387778
14MP0010368_abnormal_lymphatic_system2.30795957
15MP0009384_cardiac_valve_regurgitation2.19923904
16MP0001486_abnormal_startle_reflex2.11926785
17MP0003566_abnormal_cell_adhesion2.05463353
18MP0005423_abnormal_somatic_nervous2.04225319
19MP0003690_abnormal_glial_cell2.02923504
20MP0005257_abnormal_intraocular_pressure1.96271829
21MP0005275_abnormal_skin_tensile1.94449749
22MP0009250_abnormal_appendicular_skeleto1.93279346
23MP0005623_abnormal_meninges_morphology1.88616694
24MP0006054_spinal_hemorrhage1.87056579
25MP0010030_abnormal_orbit_morphology1.81249644
26MP0001188_hyperpigmentation1.80133132
27MP0000778_abnormal_nervous_system1.79711603
28MP0004270_analgesia1.79069642
29MP0002060_abnormal_skin_morphology1.75896125
30MP0000767_abnormal_smooth_muscle1.75154032
31MP0001485_abnormal_pinna_reflex1.75130194
32MP0004134_abnormal_chest_morphology1.72796040
33MP0000751_myopathy1.72279617
34MP0004381_abnormal_hair_follicle1.71976159
35MP0002272_abnormal_nervous_system1.70789571
36MP0002938_white_spotting1.69967288
37MP0003938_abnormal_ear_development1.67639506
38MP0003385_abnormal_body_wall1.67087453
39MP0004272_abnormal_basement_membrane1.61895332
40MP0002877_abnormal_melanocyte_morpholog1.60404951
41MP0001905_abnormal_dopamine_level1.59393308
42MP0003937_abnormal_limbs/digits/tail_de1.57517356
43MP0002249_abnormal_larynx_morphology1.55531770
44MP0004885_abnormal_endolymph1.54397627
45MP0000762_abnormal_tongue_morphology1.53308798
46MP0000733_abnormal_muscle_development1.49659406
47MP0001346_abnormal_lacrimal_gland1.49564388
48MP0003634_abnormal_glial_cell1.48148079
49MP0005023_abnormal_wound_healing1.46988892
50MP0010352_gastrointestinal_tract_polyps1.45957916
51MP0004142_abnormal_muscle_tone1.45266854
52MP0001963_abnormal_hearing_physiology1.43826704
53MP0000462_abnormal_digestive_system1.42818493
54MP0000026_abnormal_inner_ear1.42584289
55MP0004084_abnormal_cardiac_muscle1.41940264
56MP0002108_abnormal_muscle_morphology1.41113414
57MP0003091_abnormal_cell_migration1.40129522
58MP0003942_abnormal_urinary_system1.39168742
59MP0000534_abnormal_ureter_morphology1.38628591
60MP0003941_abnormal_skin_development1.38040613
61MP0000049_abnormal_middle_ear1.37474472
62MP0004233_abnormal_muscle_weight1.33524221
63MP0000383_abnormal_hair_follicle1.33290287
64MP0000428_abnormal_craniofacial_morphol1.33284148
65MP0001542_abnormal_bone_strength1.30230103
66MP0001661_extended_life_span1.29934406
67MP0001529_abnormal_vocalization1.28793794
68MP0005551_abnormal_eye_electrophysiolog1.27888851
69MP0002064_seizures1.26958145
70MP0001299_abnormal_eye_distance/1.26283433
71MP0005508_abnormal_skeleton_morphology1.25240716
72MP0009780_abnormal_chondrocyte_physiolo1.21313103
73MP0000013_abnormal_adipose_tissue1.20797025
74MP0000759_abnormal_skeletal_muscle1.18362374
75MP0010678_abnormal_skin_adnexa1.16082803
76MP0001243_abnormal_dermal_layer1.14673354
77MP0002295_abnormal_pulmonary_circulatio1.14194775
78MP0009046_muscle_twitch1.12501882
79MP0009053_abnormal_anal_canal1.12164988
80MP0009745_abnormal_behavioral_response1.10366575
81MP0003195_calcinosis1.08843870
82MP0003935_abnormal_craniofacial_develop1.07660023
83MP0008260_abnormal_autophagy1.06533958
84* MP0002752_abnormal_somatic_nervous1.04406133
85MP0004036_abnormal_muscle_relaxation1.04203697
86MP0000749_muscle_degeneration1.03799232
87MP0002009_preneoplasia1.01841551
88MP0004145_abnormal_muscle_electrophysio1.00834441
89MP0002896_abnormal_bone_mineralization1.00795671
90MP0005330_cardiomyopathy0.98170456
91MP0005253_abnormal_eye_physiology0.97294479
92MP0002067_abnormal_sensory_capabilities0.97197225
93MP0003755_abnormal_palate_morphology0.97077105
94MP0000647_abnormal_sebaceous_gland0.97074814
95MP0003635_abnormal_synaptic_transmissio0.96777303
96MP0002734_abnormal_mechanical_nocicepti0.96756144
97* MP0000163_abnormal_cartilage_morphology0.96739068
98MP0006072_abnormal_retinal_apoptosis0.96413746
99MP0000003_abnormal_adipose_tissue0.95919308
100MP0002233_abnormal_nose_morphology0.95411964
101MP0005195_abnormal_posterior_eye0.95098124
102MP0001968_abnormal_touch/_nociception0.94112455
103MP0005410_abnormal_fertilization0.93418174
104MP0004087_abnormal_muscle_fiber0.91946815
105MP0002882_abnormal_neuron_morphology0.91760529
106MP0005197_abnormal_uvea_morphology0.91566466
107MP0001440_abnormal_grooming_behavior0.91393498
108MP0002128_abnormal_blood_circulation0.90878644
109MP0002229_neurodegeneration0.90285330
110MP0005451_abnormal_body_composition0.89160917
111MP0002572_abnormal_emotion/affect_behav0.88385571
112MP0003283_abnormal_digestive_organ0.88084304
113* MP0002925_abnormal_cardiovascular_devel0.87569732
114MP0000750_abnormal_muscle_regeneration0.86313320
115MP0001958_emphysema0.85935527
116MP0001348_abnormal_lacrimal_gland0.85419719
117MP0003632_abnormal_nervous_system0.85388177
118* MP0002114_abnormal_axial_skeleton0.84848853
119MP0001915_intracranial_hemorrhage0.83697868
120MP0005076_abnormal_cell_differentiation0.83357979
121MP0002177_abnormal_outer_ear0.82736348
122MP0000372_irregular_coat_pigmentation0.82463690
123MP0009697_abnormal_copulation0.82153296
124MP0000467_abnormal_esophagus_morphology0.81594139
125MP0008569_lethality_at_weaning0.81513457
126* MP0001614_abnormal_blood_vessel0.81417405
127MP0000955_abnormal_spinal_cord0.80496538
128MP0002269_muscular_atrophy0.79260231
129MP0010630_abnormal_cardiac_muscle0.79098409
130MP0002115_abnormal_skeleton_extremities0.79043008
131MP0000537_abnormal_urethra_morphology0.78422030
132MP0002133_abnormal_respiratory_system0.76500730
133MP0005388_respiratory_system_phenotype0.76500730
134MP0004858_abnormal_nervous_system0.76335060
135MP0001340_abnormal_eyelid_morphology0.75976337
136MP0005620_abnormal_muscle_contractility0.75964683
137MP0009379_abnormal_foot_pigmentation0.75899356
138MP0005595_abnormal_vascular_smooth0.75008045
139MP0000631_abnormal_neuroendocrine_gland0.74980541
140MP0000432_abnormal_head_morphology0.74722464
141MP0008932_abnormal_embryonic_tissue0.74454848
142MP0006138_congestive_heart_failure0.74040678
143MP0003111_abnormal_nucleus_morphology0.73635031
144MP0005369_muscle_phenotype0.73243445
145MP0002066_abnormal_motor_capabilities/c0.72910083
146MP0003631_nervous_system_phenotype0.72685547
147MP0002735_abnormal_chemical_nociception0.72580400
148MP0001970_abnormal_pain_threshold0.72288900
149* MP0002116_abnormal_craniofacial_bone0.71640493
150MP0005187_abnormal_penis_morphology0.71453651
151MP0001879_abnormal_lymphatic_vessel0.71004533
152MP0002282_abnormal_trachea_morphology0.69538194
153MP0006292_abnormal_olfactory_placode0.69435815
154MP0003137_abnormal_impulse_conducting0.69243842
155MP0001177_atelectasis0.69105717
156* MP0002113_abnormal_skeleton_development0.68942579
157MP0008775_abnormal_heart_ventricle0.68435326
158MP0002932_abnormal_joint_morphology0.68355446
159MP0000579_abnormal_nail_morphology0.68197735
160MP0001270_distended_abdomen0.68130576
161* MP0002085_abnormal_embryonic_tissue0.67487025
162* MP0000266_abnormal_heart_morphology0.66647315
163MP0000747_muscle_weakness0.66362457
164MP0002109_abnormal_limb_morphology0.64590029
165MP0002092_abnormal_eye_morphology0.63897039
166MP0002084_abnormal_developmental_patter0.63762888
167MP0002972_abnormal_cardiac_muscle0.60513021
168MP0005390_skeleton_phenotype0.60390911
169MP0002127_abnormal_cardiovascular_syste0.59355093
170MP0003115_abnormal_respiratory_system0.58796717

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)6.68495208
2Aortic dissection (HP:0002647)4.96199688
3Aortic aneurysm (HP:0004942)4.67196727
4Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)4.64688291
5Degeneration of the lateral corticospinal tracts (HP:0002314)4.64688291
6Vascular tortuosity (HP:0004948)4.46381731
7Parakeratosis (HP:0001036)4.20550991
8Arterial tortuosity (HP:0005116)4.04384165
9Ankle contracture (HP:0006466)3.91433258
10Neurofibrillary tangles (HP:0002185)3.87221570
11Bladder diverticulum (HP:0000015)3.79003647
12Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.60953664
13Hypoplasia of the iris (HP:0007676)3.52370687
14Shallow orbits (HP:0000586)3.52045971
15Mitral valve prolapse (HP:0001634)3.40170976
16Broad metatarsal (HP:0001783)3.39314933
17Wormian bones (HP:0002645)3.35772462
18Fragile skin (HP:0001030)3.35439342
19Atrophic scars (HP:0001075)3.34245919
20Alacrima (HP:0000522)3.33159826
21Spondylolisthesis (HP:0003302)3.31741341
22Dilatation of the ascending aorta (HP:0005111)3.31243279
23Spinal rigidity (HP:0003306)3.27942522
24Type 1 muscle fiber predominance (HP:0003803)3.22860033
25Septo-optic dysplasia (HP:0100842)3.20979890
26Peripheral hypomyelination (HP:0007182)3.16964076
27White forelock (HP:0002211)3.06158265
28Sensory axonal neuropathy (HP:0003390)3.05147163
29Absent septum pellucidum (HP:0001331)3.04509434
30Cervical subluxation (HP:0003308)3.01429007
31Aplasia involving bones of the upper limbs (HP:0009823)3.01256387
32Aplasia of the phalanges of the hand (HP:0009802)3.01256387
33Aplasia involving bones of the extremities (HP:0009825)3.01256387
34Hypophosphatemic rickets (HP:0004912)3.00401083
35Abnormality of the corticospinal tract (HP:0002492)2.96851583
36Patchy hypopigmentation of hair (HP:0011365)2.94596370
37Premature rupture of membranes (HP:0001788)2.93645707
38Retinal dysplasia (HP:0007973)2.90411116
39Genu recurvatum (HP:0002816)2.86945099
40Overgrowth (HP:0001548)2.81739694
41Aplasia cutis congenita (HP:0001057)2.78769377
42Neonatal short-limb short stature (HP:0008921)2.75857003
43Humeroradial synostosis (HP:0003041)2.73086159
44Synostosis involving the elbow (HP:0003938)2.73086159
45Decreased lacrimation (HP:0000633)2.71570706
46Abnormality of the septum pellucidum (HP:0007375)2.71316872
47Onion bulb formation (HP:0003383)2.67571404
48Osteolytic defects of the hand bones (HP:0009699)2.64066204
49Osteolytic defects of the phalanges of the hand (HP:0009771)2.64066204
50Cerebral aneurysm (HP:0004944)2.63413422
51Blue sclerae (HP:0000592)2.61172836
52Abnormality of the phalanges of the 2nd finger (HP:0009541)2.58959981
53Coronal craniosynostosis (HP:0004440)2.53900839
54Congenital sensorineural hearing impairment (HP:0008527)2.53528786
55Increased connective tissue (HP:0009025)2.52264776
56Dynein arm defect of respiratory motile cilia (HP:0012255)2.51852362
57Absent/shortened dynein arms (HP:0200106)2.51852362
58Joint laxity (HP:0001388)2.50569625
59Abnormality of the middle phalanges of the toes (HP:0010183)2.50461512
60Thickened helices (HP:0000391)2.49471622
61Bowel diverticulosis (HP:0005222)2.49117524
62Aortic regurgitation (HP:0001659)2.46193641
63Chin dimple (HP:0010751)2.45873925
64Infantile muscular hypotonia (HP:0008947)2.45763271
65Cerebral inclusion bodies (HP:0100314)2.44523004
66Elbow flexion contracture (HP:0002987)2.43362051
67Partial duplication of thumb phalanx (HP:0009944)2.38632745
68Hypoplastic pelvis (HP:0008839)2.36382603
69Vertebral compression fractures (HP:0002953)2.36058091
70Peritonitis (HP:0002586)2.33872924
71Round ear (HP:0100830)2.32780902
72Aortic valve stenosis (HP:0001650)2.31319173
73Partial duplication of the phalanx of hand (HP:0009999)2.30978055
74Increased variability in muscle fiber diameter (HP:0003557)2.30970134
75Disproportionate tall stature (HP:0001519)2.30866231
76Mitral regurgitation (HP:0001653)2.29401323
77Hypoplastic left heart (HP:0004383)2.29269391
78Abnormality of the acetabulum (HP:0003170)2.28575170
79Abnormal delivery (HP:0001787)2.27716509
80Hyperextensible skin (HP:0000974)2.26899317
81Mild short stature (HP:0003502)2.26105054
82Biconcave vertebral bodies (HP:0004586)2.25241082
83Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.23248444
84Bell-shaped thorax (HP:0001591)2.22010225
85Ectopia lentis (HP:0001083)2.21724107
86Slender build (HP:0001533)2.21522847
87Calcaneovalgus deformity (HP:0001848)2.20173100
88Abnormality of the phalanges of the hallux (HP:0010057)2.18859157
89Nasolacrimal duct obstruction (HP:0000579)2.18553714
90Spinal cord lesions (HP:0100561)2.18213625
91Syringomyelia (HP:0003396)2.18213625
92Deformed tarsal bones (HP:0008119)2.17956775
93Mixed hearing impairment (HP:0000410)2.16712385
94Aneurysm (HP:0002617)2.14216556
95Cupped ear (HP:0000378)2.13725362
96Congenital ichthyosiform erythroderma (HP:0007431)2.13295748
97Adrenal hypoplasia (HP:0000835)2.12980133
98Pulmonary artery stenosis (HP:0004415)2.11252311
99Myelomeningocele (HP:0002475)2.10364393
100Wide anterior fontanel (HP:0000260)2.08178387
101Abnormality of the parietal bone (HP:0002696)2.06169464
102Persistence of primary teeth (HP:0006335)2.06091025
103Ulnar bowing (HP:0003031)2.05994873
104Follicular hyperkeratosis (HP:0007502)2.05315937
105Split foot (HP:0001839)2.05154911
106Short nail (HP:0001799)2.04519222
107Wrist flexion contracture (HP:0001239)2.04235422
108Breech presentation (HP:0001623)2.04147295
109Nonimmune hydrops fetalis (HP:0001790)2.03914273
110Hemiparesis (HP:0001269)2.03353691
111Mildly elevated creatine phosphokinase (HP:0008180)2.02154830
112Abnormality of incisor morphology (HP:0011063)2.01979967
113Duplicated collecting system (HP:0000081)2.01377284
114Abnormality of the calcaneus (HP:0008364)2.01356444
115Symphalangism affecting the phalanges of the hand (HP:0009773)2.01078770
116Keratoconus (HP:0000563)2.00384426
117Increased corneal curvature (HP:0100692)2.00384426
118Metabolic alkalosis (HP:0200114)1.97981233
119Duplication of thumb phalanx (HP:0009942)1.97956613
120Hypoplastic heart (HP:0001961)1.97902707
121Conical tooth (HP:0000698)1.97514179
122Abnormal auditory evoked potentials (HP:0006958)1.94359465
123Reduced subcutaneous adipose tissue (HP:0003758)1.94163736
124Corneal dystrophy (HP:0001131)1.92866639
125Overfolded helix (HP:0000396)1.92684531
126Short hallux (HP:0010109)1.91867668
127Flat cornea (HP:0007720)1.91781516
128Recurrent corneal erosions (HP:0000495)1.91381531
129Abnormality of the nasolacrimal system (HP:0000614)1.91052141
130Hyperventilation (HP:0002883)1.89392498
131Venous insufficiency (HP:0005293)1.88336262
132Hip contracture (HP:0003273)1.88134116
133Abnormal ciliary motility (HP:0012262)1.87910256
134Venous abnormality (HP:0002624)1.87541970
135Abnormality of skeletal muscle fiber size (HP:0012084)1.87266265
136Termporal pattern (HP:0011008)1.86637716
137Insidious onset (HP:0003587)1.86637716
138Anomalous pulmonary venous return (HP:0010772)1.86382896
139Delayed cranial suture closure (HP:0000270)1.86226734
140Muscle hypertrophy of the lower extremities (HP:0008968)1.86000790
141Deviation of the hallux (HP:0010051)1.85995214
142Mesomelia (HP:0003027)1.85825713
143Methylmalonic acidemia (HP:0002912)1.85182111
144Prolonged neonatal jaundice (HP:0006579)1.85026755
145Buphthalmos (HP:0000557)1.84071010
146Inguinal hernia (HP:0000023)1.83828411
147Abnormality of dentin (HP:0010299)1.83755261
148Clumsiness (HP:0002312)1.82481747
149Knee flexion contracture (HP:0006380)1.82459932
150Autoamputation (HP:0001218)1.81224869
151Limited hip movement (HP:0008800)1.79733187
152Hallux valgus (HP:0001822)1.79498076
153Striae distensae (HP:0001065)1.78225200
154Protruding ear (HP:0000411)1.78087240
155Scanning speech (HP:0002168)1.77793721
156Morphological abnormality of the middle ear (HP:0008609)1.77458907
157Lipoatrophy (HP:0100578)1.77458734
158Abnormality of the 2nd finger (HP:0004100)1.76921769
159Optic nerve hypoplasia (HP:0000609)1.76041366
160Anteriorly placed anus (HP:0001545)1.75046286
161Spastic gait (HP:0002064)1.74720878
162Abnormality of the lacrimal duct (HP:0011481)1.72983480
163Abnormality of the pulmonary veins (HP:0011718)1.72823981
164Narrow palate (HP:0000189)1.72358321
165Natal tooth (HP:0000695)1.71980104
166Arachnodactyly (HP:0001166)1.71908933
167Hypomagnesemia (HP:0002917)1.71477657
168Osteoarthritis (HP:0002758)1.71177963
169Entropion (HP:0000621)1.69997565
170Camptodactyly of toe (HP:0001836)1.69837927
171Delayed closure of the anterior fontanelle (HP:0001476)1.69287090
172Vertebral arch anomaly (HP:0008438)1.68716798
173Preaxial foot polydactyly (HP:0001841)1.68400312
174Broad ribs (HP:0000885)1.67899963
175Esophageal atresia (HP:0002032)1.67563743
176Aplasia/Hypoplasia of the lens (HP:0008063)1.66747061
177Dysmetria (HP:0001310)1.66621640
178Abnormally folded helix (HP:0008544)1.66588917
179Soft skin (HP:0000977)1.66324882
180Segmental peripheral demyelination/remyelination (HP:0003481)1.65854562
181Widely spaced teeth (HP:0000687)1.65687785
182Abnormality of glycolysis (HP:0004366)1.64770018
183Increased serum pyruvate (HP:0003542)1.64770018
184Mitral stenosis (HP:0001718)1.64271119
185Fibular aplasia (HP:0002990)1.64003078
186Joint stiffness (HP:0001387)1.60978025
187Abnormality of the anterior chamber (HP:0000593)1.60289726
188Thin bony cortex (HP:0002753)1.60162451
189Abnormality of the fetal cardiovascular system (HP:0010948)1.56433486
190Abnormal umbilical cord blood vessels (HP:0011403)1.56433486
191Single umbilical artery (HP:0001195)1.56433486
192Long eyelashes (HP:0000527)1.56359877

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK395.39306383
2PDGFRA3.99191638
3OXSR13.42145622
4CASK3.39378045
5TRIB32.99775757
6TTN2.83530012
7PKN12.79905499
8EEF2K2.74997498
9NEK92.70706289
10PNCK2.51045181
11EPHB12.49300638
12LATS12.41584503
13PBK2.31297371
14WNK42.20272708
15PTK22.10510083
16TNIK2.09393553
17CDK122.07872759
18MAPKAPK52.04112882
19LATS22.00043366
20BCR1.84340653
21BLK1.81949720
22WNK11.75947752
23NEK61.75147588
24MKNK21.72705189
25CLK11.70017031
26TGFBR21.65369473
27PDGFRB1.62584751
28MET1.56587673
29MKNK11.52510555
30CAMK1G1.47849589
31DDR21.36324421
32FGR1.36086996
33CDK81.35700927
34MELK1.33041453
35FGFR21.32687750
36TTK1.30147622
37KSR21.28673489
38MST1R1.26526218
39ROCK21.25920166
40DMPK1.24899126
41PAK31.24441495
42CSNK1A1L1.23208439
43MTOR1.23105244
44CAMK2B1.22930248
45BMPR1B1.21020529
46PIK3CA1.21003617
47NUAK11.16594953
48ILK1.16343272
49UHMK11.15924033
50CAMK2D1.15060143
51RIPK11.14023022
52WEE11.13553449
53NEK21.13453147
54CDK191.13056880
55MAP3K21.12142145
56STK31.11340918
57MARK21.09502982
58MST41.08841201
59INSRR1.08080402
60MUSK1.07997946
61PRKCE1.07760690
62FLT31.07538811
63CSNK1G31.06489710
64PAK41.05086900
65CDC42BPA1.04836984
66EPHA41.04474620
67MAP3K61.03638721
68GRK71.03580150
69ADRBK21.02013842
70PRPF4B0.99536236
71STK380.99353900
72IRAK30.96430284
73CSNK1G10.95124105
74SCYL20.94533897
75PAK20.94189197
76PKN20.93921121
77DYRK20.93760715
78GRK10.92756519
79CAMK2A0.91708770
80MAPK150.91158596
81PAK60.90964952
82LIMK10.90589209
83ZAK0.89060144
84MAPK130.86902493
85EPHB20.85438783
86ABL20.85221747
87NEK10.84277628
88TRPM70.84118623
89PRKCQ0.83171549
90BRSK20.81859478
91ICK0.80201065
92CHEK20.79602342
93ERN10.77774198
94TIE10.76716211
95PIK3CG0.76249203
96NTRK10.76156035
97PRKD10.74762123
98SGK2230.74599799
99SGK4940.74599799
100BRSK10.74187193
101STK160.73949572
102BUB10.73948607
103CAMK2G0.73172861
104CDK30.71419539
105PTK2B0.71245889
106TGFBR10.71109314
107RAF10.69809171
108CSNK1G20.69387750
109PRKG10.69379083
110IRAK20.67463837
111TAF10.67150809
112BMPR20.66205479
113MAP2K10.64400616
114OBSCN0.63880878
115MYLK0.63636390
116MARK10.63577407
117YES10.63318656
118MAP3K80.61940123
119AKT20.61543157
120MAPK110.61338621
121MAPK70.60598340
122PHKG20.60182467
123PHKG10.60182467
124MAP3K100.60094573
125LMTK20.59646872
126STK40.59054358
127ROCK10.58508023
128MAP3K70.57705141
129CHEK10.56901414
130AURKB0.56477663
131PLK20.56352868
132ERBB40.55254152
133NME20.54301063
134MAP2K30.53895936
135IRAK10.53466759
136RPS6KA50.52848591
137MAP3K130.51977583
138PRKD20.50950938
139CDK140.49619680
140FES0.49315885
141RPS6KA20.49240591
142CDK50.49239462
143FYN0.48939346
144KSR10.47078337
145PRKAA20.46644316
146CAMK1D0.45763409
147SIK10.45654644
148GSK3A0.45630860
149ADRBK10.45377104
150PRKACB0.45289612
151DYRK1A0.44930558
152BMX0.44687847
153CDK150.44353130
154INSR0.44305176
155FGFR10.43435051
156CSNK1D0.42828755
157NTRK30.42379030
158DAPK30.42242731
159MOS0.40722578
160CDK11A0.40500009
161AKT30.40193982
162RET0.39772143
163CDK180.39718494
164MAPKAPK30.38897904
165PLK10.37332764
166CDK70.36412282
167EIF2AK10.35447314
168TESK10.35072801
169PRKG20.34748128
170MAPK120.32876195
171RPS6KC10.32235553
172RPS6KL10.32235553
173CDC70.30081831

Predicted pathways (KEGG)

RankGene SetZ-score
1Terpenoid backbone biosynthesis_Homo sapiens_hsa009004.14979958
2Fatty acid elongation_Homo sapiens_hsa000623.38520256
3Steroid biosynthesis_Homo sapiens_hsa001003.38104277
4Ether lipid metabolism_Homo sapiens_hsa005652.82783151
5Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.61098797
6Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.54257714
7Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.25608352
8Small cell lung cancer_Homo sapiens_hsa052222.20361771
9Axon guidance_Homo sapiens_hsa043602.03645683
10Proteoglycans in cancer_Homo sapiens_hsa052051.92979185
11AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.92214415
12Adherens junction_Homo sapiens_hsa045201.91098457
13Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.86740479
14Sphingolipid metabolism_Homo sapiens_hsa006001.83870555
15MicroRNAs in cancer_Homo sapiens_hsa052061.83517047
16Protein export_Homo sapiens_hsa030601.77153132
17Chronic myeloid leukemia_Homo sapiens_hsa052201.76622568
18ECM-receptor interaction_Homo sapiens_hsa045121.72269016
19Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.72182347
20Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.71521175
21Oxidative phosphorylation_Homo sapiens_hsa001901.55143796
22Serotonergic synapse_Homo sapiens_hsa047261.54975759
23Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.51751539
24Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.50727677
25Bladder cancer_Homo sapiens_hsa052191.44121743
26Glutamatergic synapse_Homo sapiens_hsa047241.42152758
27One carbon pool by folate_Homo sapiens_hsa006701.40218451
28Linoleic acid metabolism_Homo sapiens_hsa005911.40073391
29Cell cycle_Homo sapiens_hsa041101.36898981
30Hedgehog signaling pathway_Homo sapiens_hsa043401.33867474
31Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.33195300
32Central carbon metabolism in cancer_Homo sapiens_hsa052301.31103872
33Glioma_Homo sapiens_hsa052141.30904963
34GABAergic synapse_Homo sapiens_hsa047271.29916347
35Arachidonic acid metabolism_Homo sapiens_hsa005901.29600093
36Morphine addiction_Homo sapiens_hsa050321.29436680
37Autoimmune thyroid disease_Homo sapiens_hsa053201.27615189
38Phototransduction_Homo sapiens_hsa047441.25820526
39Nicotine addiction_Homo sapiens_hsa050331.24815551
40Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.23891830
41Histidine metabolism_Homo sapiens_hsa003401.22010426
42Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.19487097
43Pancreatic cancer_Homo sapiens_hsa052121.17973977
44alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.15407108
45Vascular smooth muscle contraction_Homo sapiens_hsa042701.14564697
46Malaria_Homo sapiens_hsa051441.14550704
47Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.14225551
48Dilated cardiomyopathy_Homo sapiens_hsa054141.14161464
49Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.12934190
50Alzheimers disease_Homo sapiens_hsa050101.12375390
51Basal cell carcinoma_Homo sapiens_hsa052171.11590048
52Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.10690523
53Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.10212809
54Ovarian steroidogenesis_Homo sapiens_hsa049131.07844880
55Long-term depression_Homo sapiens_hsa047301.07678569
56Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.07464013
57Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.06753470
58Cardiac muscle contraction_Homo sapiens_hsa042601.06121353
59Rheumatoid arthritis_Homo sapiens_hsa053231.04651493
60Sulfur metabolism_Homo sapiens_hsa009201.04324352
61Thyroid hormone signaling pathway_Homo sapiens_hsa049191.03314748
62Ras signaling pathway_Homo sapiens_hsa040141.03199403
63p53 signaling pathway_Homo sapiens_hsa041151.03158516
64Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.02736102
65Tight junction_Homo sapiens_hsa045301.02038236
66Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.01983185
67Salivary secretion_Homo sapiens_hsa049700.98978352
68Parkinsons disease_Homo sapiens_hsa050120.95778789
69Protein digestion and absorption_Homo sapiens_hsa049740.90538771
70Renal cell carcinoma_Homo sapiens_hsa052110.89140011
71Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.88884562
72Renin secretion_Homo sapiens_hsa049240.87355806
73Lysine degradation_Homo sapiens_hsa003100.87220775
74Vitamin B6 metabolism_Homo sapiens_hsa007500.87035917
75Prion diseases_Homo sapiens_hsa050200.86889517
76mTOR signaling pathway_Homo sapiens_hsa041500.86323457
77SNARE interactions in vesicular transport_Homo sapiens_hsa041300.86185367
78Taste transduction_Homo sapiens_hsa047420.85595956
79Wnt signaling pathway_Homo sapiens_hsa043100.85542028
80Mineral absorption_Homo sapiens_hsa049780.82723559
81Nucleotide excision repair_Homo sapiens_hsa034200.81432153
82Steroid hormone biosynthesis_Homo sapiens_hsa001400.80762051
83Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.79578695
84Estrogen signaling pathway_Homo sapiens_hsa049150.78440825
85Circadian entrainment_Homo sapiens_hsa047130.77893568
86Longevity regulating pathway - mammal_Homo sapiens_hsa042110.77762277
87Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.77161799
88Arginine and proline metabolism_Homo sapiens_hsa003300.77023748
89Focal adhesion_Homo sapiens_hsa045100.76533784
90PI3K-Akt signaling pathway_Homo sapiens_hsa041510.76189932
91Regulation of actin cytoskeleton_Homo sapiens_hsa048100.74544693
92Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.74501993
93Sphingolipid signaling pathway_Homo sapiens_hsa040710.73478551
94Pentose phosphate pathway_Homo sapiens_hsa000300.73421885
95Calcium signaling pathway_Homo sapiens_hsa040200.71338278
96cAMP signaling pathway_Homo sapiens_hsa040240.71331294
97Glycosaminoglycan degradation_Homo sapiens_hsa005310.70708595
98Thyroid cancer_Homo sapiens_hsa052160.69027044
99Phospholipase D signaling pathway_Homo sapiens_hsa040720.68583301
100Melanogenesis_Homo sapiens_hsa049160.68395465
101DNA replication_Homo sapiens_hsa030300.68373793
102Colorectal cancer_Homo sapiens_hsa052100.67887115
103Melanoma_Homo sapiens_hsa052180.67417689
104Non-small cell lung cancer_Homo sapiens_hsa052230.67100453
105Vitamin digestion and absorption_Homo sapiens_hsa049770.66928836
106Non-homologous end-joining_Homo sapiens_hsa034500.66831380
107Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.65385577
108AMPK signaling pathway_Homo sapiens_hsa041520.64967844
109Sulfur relay system_Homo sapiens_hsa041220.63902557
110HTLV-I infection_Homo sapiens_hsa051660.63687877
111TGF-beta signaling pathway_Homo sapiens_hsa043500.63347774
112Gastric acid secretion_Homo sapiens_hsa049710.63016803
113Dorso-ventral axis formation_Homo sapiens_hsa043200.63013547
114RNA transport_Homo sapiens_hsa030130.62577425
115Cocaine addiction_Homo sapiens_hsa050300.62513170
116Cholinergic synapse_Homo sapiens_hsa047250.62344527
117Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.62187714
118cGMP-PKG signaling pathway_Homo sapiens_hsa040220.62157928
119Neurotrophin signaling pathway_Homo sapiens_hsa047220.61142718
120Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.60498462
121Oxytocin signaling pathway_Homo sapiens_hsa049210.59639054
122Hippo signaling pathway_Homo sapiens_hsa043900.58276610
123African trypanosomiasis_Homo sapiens_hsa051430.57011461
124Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.56788818
125Insulin signaling pathway_Homo sapiens_hsa049100.56723699
126Pancreatic secretion_Homo sapiens_hsa049720.56571780
127Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.56475343
128Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.56469722
129FoxO signaling pathway_Homo sapiens_hsa040680.54398368
130Butanoate metabolism_Homo sapiens_hsa006500.54289164
131Phagosome_Homo sapiens_hsa041450.53902809
132Gap junction_Homo sapiens_hsa045400.53602477
133Retinol metabolism_Homo sapiens_hsa008300.52897089
134Huntingtons disease_Homo sapiens_hsa050160.52833515
135Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.52272524
136Rap1 signaling pathway_Homo sapiens_hsa040150.52104389
137Selenocompound metabolism_Homo sapiens_hsa004500.51634969
138Graft-versus-host disease_Homo sapiens_hsa053320.50759661
139N-Glycan biosynthesis_Homo sapiens_hsa005100.50395753
140GnRH signaling pathway_Homo sapiens_hsa049120.50346182
141Galactose metabolism_Homo sapiens_hsa000520.50016473
142Inositol phosphate metabolism_Homo sapiens_hsa005620.49953434
143Platelet activation_Homo sapiens_hsa046110.47823910
144Choline metabolism in cancer_Homo sapiens_hsa052310.47666954
145Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.47061209
146Notch signaling pathway_Homo sapiens_hsa043300.46709912
147Amoebiasis_Homo sapiens_hsa051460.46616667
148Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.46558642
149Hepatitis B_Homo sapiens_hsa051610.45537215
150Vibrio cholerae infection_Homo sapiens_hsa051100.45465132
151Endometrial cancer_Homo sapiens_hsa052130.45162402
152Prostate cancer_Homo sapiens_hsa052150.44996434
153Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.44039881
154Thyroid hormone synthesis_Homo sapiens_hsa049180.42555447
155Adipocytokine signaling pathway_Homo sapiens_hsa049200.41857514
156MAPK signaling pathway_Homo sapiens_hsa040100.41724278
157ErbB signaling pathway_Homo sapiens_hsa040120.41589254
158VEGF signaling pathway_Homo sapiens_hsa043700.40839379
159Homologous recombination_Homo sapiens_hsa034400.40513308
160Oocyte meiosis_Homo sapiens_hsa041140.40157827
161Pathways in cancer_Homo sapiens_hsa052000.39947978
162Dopaminergic synapse_Homo sapiens_hsa047280.39727436

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