MATN4

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





Description: This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1surfactant homeostasis (GO:0043129)6.37676258
2mitotic nuclear envelope reassembly (GO:0007084)5.51982580
3nuclear envelope reassembly (GO:0031468)5.51982580
4chemical homeostasis within a tissue (GO:0048875)5.11718312
5negative regulation of organelle assembly (GO:1902116)5.05902049
6L-serine metabolic process (GO:0006563)4.52582297
7chondrocyte development (GO:0002063)4.48324751
8regulation of branching involved in prostate gland morphogenesis (GO:0060687)4.47160404
9growth hormone secretion (GO:0030252)4.46584623
10pattern specification involved in kidney development (GO:0061004)4.45176537
11locomotory exploration behavior (GO:0035641)4.42397683
12activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO4.32300588
13dermatan sulfate biosynthetic process (GO:0030208)4.26005065
14natural killer cell differentiation (GO:0001779)4.13898193
15dermatan sulfate metabolic process (GO:0030205)4.13646395
16collagen fibril organization (GO:0030199)4.10951205
17protein heterotrimerization (GO:0070208)4.09326294
18gap junction assembly (GO:0016264)4.06337216
19regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.05959766
20antigen processing and presentation via MHC class Ib (GO:0002475)3.99357280
21tRNA methylation (GO:0030488)3.97340077
22negative regulation of chondrocyte differentiation (GO:0032331)3.83150453
23trophoblast giant cell differentiation (GO:0060707)3.82512408
24chondroitin sulfate catabolic process (GO:0030207)3.80737765
25peptidyl-arginine omega-N-methylation (GO:0035247)3.76219483
26establishment of integrated proviral latency (GO:0075713)3.74877373
27ribosome biogenesis (GO:0042254)3.69599749
28keratan sulfate catabolic process (GO:0042340)3.69551991
29protein localization to chromosome, centromeric region (GO:0071459)3.67367564
30collagen catabolic process (GO:0030574)3.62391973
31histone arginine methylation (GO:0034969)3.61921033
32formation of translation preinitiation complex (GO:0001731)3.58155956
33bone trabecula formation (GO:0060346)3.54875860
34collagen metabolic process (GO:0032963)3.52246340
35positive regulation of DNA-dependent DNA replication (GO:2000105)3.50533617
36cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.50226691
37protein complex localization (GO:0031503)3.49075641
38multicellular organismal catabolic process (GO:0044243)3.48928032
39chondrocyte proliferation (GO:0035988)3.48735298
40regulation of translational termination (GO:0006449)3.48223448
41multicellular organismal macromolecule metabolic process (GO:0044259)3.37890772
42peptidyl-histidine modification (GO:0018202)3.36921497
43chondroitin sulfate biosynthetic process (GO:0030206)3.34633244
44mesenchymal cell proliferation (GO:0010463)3.29338544
45positive regulation of endothelial cell differentiation (GO:0045603)3.27425068
46positive regulation of natural killer cell differentiation (GO:0032825)3.27090817
47axon extension involved in axon guidance (GO:0048846)3.26368361
48neuron projection extension involved in neuron projection guidance (GO:1902284)3.26368361
49exocrine pancreas development (GO:0031017)3.25624724
50multicellular organismal metabolic process (GO:0044236)3.25579142
51cartilage condensation (GO:0001502)3.24619285
52cell aggregation (GO:0098743)3.24619285
53establishment of viral latency (GO:0019043)3.24246771
54regulation of gene silencing by miRNA (GO:0060964)3.22185122
55regulation of gene silencing by RNA (GO:0060966)3.22185122
56regulation of posttranscriptional gene silencing (GO:0060147)3.22185122
57cell migration in hindbrain (GO:0021535)3.20326839
58extracellular matrix disassembly (GO:0022617)3.20253143
59regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.17951217
60positive regulation of cartilage development (GO:0061036)3.16734502
61embryonic skeletal joint morphogenesis (GO:0060272)3.16565544
62pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.16353410
63endodermal cell differentiation (GO:0035987)3.12961641
64glial cell proliferation (GO:0014009)3.11764423
65positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003603.10568315
66mitochondrial fragmentation involved in apoptotic process (GO:0043653)3.10011508
67negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.07349796
68regulation of integrin-mediated signaling pathway (GO:2001044)3.05801320
69negative regulation of telomerase activity (GO:0051974)3.04255321
70microtubule depolymerization (GO:0007019)3.03509904
71peptidyl-arginine methylation (GO:0018216)3.03433080
72peptidyl-arginine N-methylation (GO:0035246)3.03433080
73prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060523.03245731
74pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.03186128
75response to redox state (GO:0051775)3.03147716
76mitochondrial calcium ion transport (GO:0006851)3.02824268
77pyrimidine nucleoside triphosphate metabolic process (GO:0009147)3.02257858
78mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.01615333
79embryonic cranial skeleton morphogenesis (GO:0048701)3.00524794
80ribosome assembly (GO:0042255)2.98635697
81lysine catabolic process (GO:0006554)2.98204970
82lysine metabolic process (GO:0006553)2.98204970
83ribonucleoprotein complex biogenesis (GO:0022613)2.97329952
84eyelid development in camera-type eye (GO:0061029)2.96747365
85cell proliferation involved in kidney development (GO:0072111)2.96591998
86positive regulation of mesenchymal cell proliferation (GO:0002053)2.95991904
87mesodermal cell differentiation (GO:0048333)2.95785134
88negative regulation of cartilage development (GO:0061037)2.95401106
89positive regulation of chondrocyte differentiation (GO:0032332)2.93376664
90pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.92194239
91outer ear morphogenesis (GO:0042473)2.91866222
92craniofacial suture morphogenesis (GO:0097094)2.89137970
93DNA unwinding involved in DNA replication (GO:0006268)2.89055383
94axonemal dynein complex assembly (GO:0070286)2.87900293
95proteasome assembly (GO:0043248)2.86980244
96regulation of mesenchymal cell proliferation (GO:0010464)2.85674868
97protein retention in ER lumen (GO:0006621)2.85555875
98regulation of chondrocyte differentiation (GO:0032330)2.85526462
99positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.85017584
100base-excision repair, AP site formation (GO:0006285)2.82882241
101epithelial cell differentiation involved in prostate gland development (GO:0060742)2.82667234
102skin morphogenesis (GO:0043589)2.79659827
103G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.79556288
104mitochondrial fusion (GO:0008053)2.79334095
105negative regulation of JAK-STAT cascade (GO:0046426)2.79208577
106atrial cardiac muscle cell action potential (GO:0086014)2.78954979
107DNA deamination (GO:0045006)2.77781293
108kidney morphogenesis (GO:0060993)2.77501129
109lateral sprouting from an epithelium (GO:0060601)2.77454857
110organ induction (GO:0001759)2.77319386
111ribosomal small subunit biogenesis (GO:0042274)2.76661742
112planar cell polarity pathway involved in neural tube closure (GO:0090179)2.75911433
113cell proliferation involved in metanephros development (GO:0072203)2.75857347
114insulin-like growth factor receptor signaling pathway (GO:0048009)2.75245772
115DNA replication-dependent nucleosome organization (GO:0034723)2.74990563
116DNA replication-dependent nucleosome assembly (GO:0006335)2.74990563
117L-methionine salvage (GO:0071267)2.74921013
118L-methionine biosynthetic process (GO:0071265)2.74921013
119amino acid salvage (GO:0043102)2.74921013
120Golgi transport vesicle coating (GO:0048200)2.74753725
121COPI coating of Golgi vesicle (GO:0048205)2.74753725
122camera-type eye morphogenesis (GO:0048593)2.74644460
123branching involved in salivary gland morphogenesis (GO:0060445)2.72065626
124replacement ossification (GO:0036075)2.70965707
125endochondral ossification (GO:0001958)2.70965707
126lung-associated mesenchyme development (GO:0060484)2.70941377
127desmosome organization (GO:0002934)2.70868886
128blood vessel maturation (GO:0001955)2.70626615
129negative regulation of catenin import into nucleus (GO:0035414)2.68996731
130oxidative phosphorylation (GO:0006119)2.67939043
131positive regulation of extracellular matrix organization (GO:1903055)2.67928857
132exploration behavior (GO:0035640)2.66520908
133pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)2.66475114
134endocardial cushion development (GO:0003197)2.65837215
135myotube differentiation (GO:0014902)2.65762024
136regulation of axon extension involved in axon guidance (GO:0048841)2.64990549
137regulation of mitotic spindle organization (GO:0060236)2.64527350
138chondroitin sulfate metabolic process (GO:0030204)2.63412783
139cranial suture morphogenesis (GO:0060363)2.61186437
140mitotic metaphase plate congression (GO:0007080)2.61077268
141polarized epithelial cell differentiation (GO:0030859)2.60864915
142regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.60600781
143mesenchyme morphogenesis (GO:0072132)2.60278116
144embryonic viscerocranium morphogenesis (GO:0048703)2.59714351
145release of cytochrome c from mitochondria (GO:0001836)2.59177995
146negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)2.58744309
147nucleoside salvage (GO:0043174)2.58674726
148maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.57925755
149positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.57805338
150regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.57796493
151postsynaptic membrane organization (GO:0001941)2.57779789
152regulation of cartilage development (GO:0061035)2.57517931
153UTP metabolic process (GO:0046051)2.57113579
154* extracellular matrix organization (GO:0030198)2.56230789
155regulation of heart morphogenesis (GO:2000826)2.55708087
156developmental induction (GO:0031128)2.55655641
157cartilage development (GO:0051216)2.55598583
158peptidyl-proline hydroxylation (GO:0019511)2.55372602
159negative regulation of DNA-templated transcription, elongation (GO:0032785)2.55340932
160* extracellular structure organization (GO:0043062)2.55239777
161sequestering of actin monomers (GO:0042989)2.55171593
162epithelial tube branching involved in lung morphogenesis (GO:0060441)2.54869533
163regulation of endothelial cell differentiation (GO:0045601)2.54557674
164positive regulation of mitochondrial fission (GO:0090141)2.54177339
165regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.53338558
166endothelial cell morphogenesis (GO:0001886)2.51194217
167regulation of natural killer cell differentiation (GO:0032823)2.49988055
168epithelial cilium movement (GO:0003351)2.49660547
169regulation of steroid hormone biosynthetic process (GO:0090030)2.49158902
170lens fiber cell development (GO:0070307)2.49135120
171axis elongation (GO:0003401)2.48712760
172positive regulation of guanylate cyclase activity (GO:0031284)2.48257850
173branching involved in prostate gland morphogenesis (GO:0060442)2.48092577
174dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.48035723
175arginine catabolic process (GO:0006527)2.47970219
176cell-cell signaling involved in cell fate commitment (GO:0045168)2.47892090
177regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.47739656
178deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.47574816
179adhesion of symbiont to host cell (GO:0044650)2.47385395
180virion attachment to host cell (GO:0019062)2.47385395
181hemidesmosome assembly (GO:0031581)2.46817405
182glycosaminoglycan biosynthetic process (GO:0006024)2.45489498
183pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)2.43747877
184cilium or flagellum-dependent cell motility (GO:0001539)2.43495264
185smooth muscle tissue development (GO:0048745)2.42911722
186aminoglycan biosynthetic process (GO:0006023)2.42036690
187keratan sulfate biosynthetic process (GO:0018146)2.41919929
188centriole replication (GO:0007099)2.41603144
189sulfur amino acid biosynthetic process (GO:0000097)2.38896423
190acetyl-CoA metabolic process (GO:0006084)2.38683546
191positive regulation of chromosome segregation (GO:0051984)2.37927975
192deoxyribonucleoside diphosphate metabolic process (GO:0009186)2.35866850
193negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.35725338
194epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.35167963
195branching involved in labyrinthine layer morphogenesis (GO:0060670)2.33131746
196tRNA aminoacylation for protein translation (GO:0006418)2.32096616
197nucleobase-containing small molecule interconversion (GO:0015949)2.31880728
198pyrimidine nucleoside salvage (GO:0043097)2.31702519

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human4.03885203
2MYC_18555785_ChIP-Seq_MESCs_Mouse3.44961870
3FOXM1_23109430_ChIP-Seq_U2OS_Human3.35379619
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.18388149
5MYC_18358816_ChIP-ChIP_MESCs_Mouse2.89773744
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.88925891
7TP63_17297297_ChIP-ChIP_HaCaT_Human2.85223363
8FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.83607227
9JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.82886741
10GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.71263995
11E2F7_22180533_ChIP-Seq_HELA_Human2.70180539
12HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.67362573
13EZH2_18974828_ChIP-Seq_MESCs_Mouse2.59173618
14RNF2_18974828_ChIP-Seq_MESCs_Mouse2.59173618
15KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.57034750
16MYC_19079543_ChIP-ChIP_MESCs_Mouse2.45808880
17* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.42305973
18SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.40256649
19AR_21572438_ChIP-Seq_LNCaP_Human2.37278716
20ZNF263_19887448_ChIP-Seq_K562_Human2.35561042
21THAP11_20581084_ChIP-Seq_MESCs_Mouse2.35233069
22* EED_16625203_ChIP-ChIP_MESCs_Mouse2.34152363
23JARID2_20064375_ChIP-Seq_MESCs_Mouse2.32653416
24MYC_19030024_ChIP-ChIP_MESCs_Mouse2.30536658
25* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.29696626
26CREB1_15753290_ChIP-ChIP_HEK293T_Human2.28830228
27ESR2_21235772_ChIP-Seq_MCF-7_Human2.25766717
28XRN2_22483619_ChIP-Seq_HELA_Human2.25565127
29* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.24213404
30* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.23870013
31E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.21927099
32RARG_19884340_ChIP-ChIP_MEFs_Mouse2.18936828
33* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.18175035
34EZH2_27304074_Chip-Seq_ESCs_Mouse2.08719906
35CCND1_20090754_ChIP-ChIP_RETINA_Mouse2.08276850
36ESR1_21235772_ChIP-Seq_MCF-7_Human2.06400925
37PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.06008507
38ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.01949700
39GABP_17652178_ChIP-ChIP_JURKAT_Human2.01768760
40SRY_22984422_ChIP-ChIP_TESTIS_Rat2.01744085
41* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.01085550
42EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.92394313
43* RNF2_27304074_Chip-Seq_ESCs_Mouse1.92027920
44TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.89724004
45E2F1_18555785_ChIP-Seq_MESCs_Mouse1.89397670
46NELFA_20434984_ChIP-Seq_ESCs_Mouse1.82683345
47ETS1_20019798_ChIP-Seq_JURKAT_Human1.81694766
48WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.81043443
49* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.77695993
50POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.77467188
51ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.77058871
52GABP_19822575_ChIP-Seq_HepG2_Human1.74147154
53DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.73536414
54* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.71105108
55EZH2_27294783_Chip-Seq_ESCs_Mouse1.64650049
56ZNF217_24962896_ChIP-Seq_MCF-7_Human1.63790021
57ESR1_20079471_ChIP-ChIP_T-47D_Human1.63266774
58DCP1A_22483619_ChIP-Seq_HELA_Human1.62372181
59* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.62031612
60MYC_22102868_ChIP-Seq_BL_Human1.61378030
61VDR_21846776_ChIP-Seq_THP-1_Human1.60349580
62ERG_21242973_ChIP-ChIP_JURKAT_Human1.59218944
63KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.57174403
64KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.57174403
65KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.57174403
66RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.57138938
67TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.55878616
68P68_20966046_ChIP-Seq_HELA_Human1.55355257
69YY1_21170310_ChIP-Seq_MESCs_Mouse1.54685914
70TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.54184113
71TP53_20018659_ChIP-ChIP_R1E_Mouse1.54181449
72IKZF1_21737484_ChIP-ChIP_HCT116_Human1.53427875
73NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.53222633
74EP300_21415370_ChIP-Seq_HL-1_Mouse1.52373743
75KLF4_18555785_ChIP-Seq_MESCs_Mouse1.50990632
76DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.50794293
77E2F4_17652178_ChIP-ChIP_JURKAT_Human1.49757380
78THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.49584955
79PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.46936990
80CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.46438390
81KDM2B_26808549_Chip-Seq_K562_Human1.46197149
82MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.45779885
83DROSHA_22980978_ChIP-Seq_HELA_Human1.42792596
84MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.42163373
85CDX2_19796622_ChIP-Seq_MESCs_Mouse1.42005707
86MYCN_18555785_ChIP-Seq_MESCs_Mouse1.41032945
87AHR_22903824_ChIP-Seq_MCF-7_Human1.39098637
88FOXP1_21924763_ChIP-Seq_HESCs_Human1.38726342
89WT1_25993318_ChIP-Seq_PODOCYTE_Human1.38416343
90CJUN_26792858_Chip-Seq_BT549_Human1.38022523
91WT1_19549856_ChIP-ChIP_CCG9911_Human1.37186306
92TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.37174157
93TTF2_22483619_ChIP-Seq_HELA_Human1.36452653
94GATA2_21666600_ChIP-Seq_HMVEC_Human1.36368455
95RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.36215826
96GBX2_23144817_ChIP-Seq_PC3_Human1.35347638
97CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.34909867
98SOX2_18555785_ChIP-Seq_MESCs_Mouse1.33721924
99RING1B_27294783_Chip-Seq_ESCs_Mouse1.32000788
100ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.31355111
101ZFX_18555785_ChIP-Seq_MESCs_Mouse1.30015040
102CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.29055077
103EST1_17652178_ChIP-ChIP_JURKAT_Human1.26945185
104TET1_21451524_ChIP-Seq_MESCs_Mouse1.26832640
105CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.26454338
106TP53_18474530_ChIP-ChIP_U2OS_Human1.25979395
107ARNT_22903824_ChIP-Seq_MCF-7_Human1.25048421
108ZFP281_18757296_ChIP-ChIP_E14_Mouse1.24790315
109BCL6_27268052_Chip-Seq_Bcells_Human1.24377042
110MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.23857979
111KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.22784757
112GATA1_22025678_ChIP-Seq_K562_Human1.22118013
113TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.21756628
114ISL1_27105846_Chip-Seq_CPCs_Mouse1.20819482
115PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.20628009
116CTCF_18555785_ChIP-Seq_MESCs_Mouse1.20115652
117DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.19644661
118PIAS1_25552417_ChIP-Seq_VCAP_Human1.18553493
119BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.18407953
120SOX9_24532713_ChIP-Seq_HFSC_Mouse1.18072404
121TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.17579395
122RING1B_27294783_Chip-Seq_NPCs_Mouse1.17313080
123SOX2_20726797_ChIP-Seq_SW620_Human1.17222492
124NFIB_24661679_ChIP-Seq_LUNG_Mouse1.17145768
125CDX2_20551321_ChIP-Seq_CACO-2_Human1.16896195
126SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.16607853
127FOXP3_21729870_ChIP-Seq_TREG_Human1.16562017
128STAT6_21828071_ChIP-Seq_BEAS2B_Human1.16461438
129CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.16180119
130CLOCK_20551151_ChIP-Seq_293T_Human1.15949830
131PPAR_26484153_Chip-Seq_NCI-H1993_Human1.15509055
132KDM2B_26808549_Chip-Seq_SUP-B15_Human1.14669502
133YY1_22570637_ChIP-Seq_MALME-3M_Human1.13861036
134CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.13590562
135RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.11674774
136CBX2_27304074_Chip-Seq_ESCs_Mouse1.11506681
137TCF4_18268006_ChIP-ChIP_LS174T_Human1.09827434
138PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.09740859
139EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.09409286
140KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.08210532
141BCOR_27268052_Chip-Seq_Bcells_Human1.08054750
142POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.07498296
143SMC4_20622854_ChIP-Seq_HELA_Human1.05769613
144FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.05760101
145RXR_22108803_ChIP-Seq_LS180_Human1.05630890
146NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.05589939
147PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.05392214
148TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.04457344
149SMAD3_21741376_ChIP-Seq_HESCs_Human1.02561445
150TBX20_22328084_ChIP-Seq_HEART_Mouse1.01836180
151TBX20_22080862_ChIP-Seq_HEART_Mouse1.01836180
152GATA1_26923725_Chip-Seq_HPCs_Mouse1.01455775
153TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.01379620
154ATF3_27146783_Chip-Seq_COLON_Human1.00696882
155UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.00655355
156ZFP281_27345836_Chip-Seq_ESCs_Mouse0.99623516
157CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.99343360
158STAT3_1855785_ChIP-Seq_MESCs_Mouse0.98557258
159CTCF_27219007_Chip-Seq_Bcells_Human0.98392536
160SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.97887881
161NANOG_21062744_ChIP-ChIP_HESCs_Human0.97219208
162* ELF1_20517297_ChIP-Seq_JURKAT_Human0.97198226
163LXR_22292898_ChIP-Seq_THP-1_Human0.95416154
164SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.94764759
165SRF_21415370_ChIP-Seq_HL-1_Mouse0.94489018
166NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.94376538
167E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.94226315
168CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.94174155
169SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.93973245
170EZH2_22144423_ChIP-Seq_EOC_Human0.93932006
171SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.93900800
172NRF2_20460467_ChIP-Seq_MEFs_Mouse0.93499965
173NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.93499965
174P63_26484246_Chip-Seq_KERATINOCYTES_Human0.93231738
175POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.93220226
176* SMC1_22415368_ChIP-Seq_MEFs_Mouse0.92796625
177YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.92683606
178AR_21909140_ChIP-Seq_LNCAP_Human0.92664124
179KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.92372377
180HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.92092429
181* RARB_24833708_ChIP-Seq_LIVER_Mouse0.91734559
182P300_27058665_Chip-Seq_ZR-75-30cells_Human0.90914135
183CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.90363948
184RUNX1_27514584_Chip-Seq_MCF-7_Human0.90269839
185ELK3_25401928_ChIP-Seq_HUVEC_Human0.90117184
186DNAJC2_21179169_ChIP-ChIP_NT2_Human0.88871594
187* CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.88591016
188* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.87908995
189SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.87434898
190SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.87344116
191HIF1A_21447827_ChIP-Seq_MCF-7_Human0.87139112
192RACK7_27058665_Chip-Seq_MCF-7_Human0.87066936

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001348_abnormal_lacrimal_gland6.49405410
2MP0001958_emphysema4.75659870
3MP0005503_abnormal_tendon_morphology4.46687270
4MP0002254_reproductive_system_inflammat4.19884314
5MP0008438_abnormal_cutaneous_collagen3.85182395
6MP0003646_muscle_fatigue3.32058049
7MP0001661_extended_life_span3.10318235
8MP0004782_abnormal_surfactant_physiolog3.09395278
9MP0009250_abnormal_appendicular_skeleto2.98505958
10MP0004185_abnormal_adipocyte_glucose2.89565388
11MP0005275_abnormal_skin_tensile2.84965071
12MP0004147_increased_porphyrin_level2.79353212
13MP0006054_spinal_hemorrhage2.75651857
14MP0004134_abnormal_chest_morphology2.49683030
15MP0004272_abnormal_basement_membrane2.44064243
16MP0000566_synostosis2.40744686
17MP0009384_cardiac_valve_regurgitation2.27758399
18MP0003111_abnormal_nucleus_morphology2.24424766
19MP0002282_abnormal_trachea_morphology2.23211496
20MP0005508_abnormal_skeleton_morphology2.20251712
21MP0002796_impaired_skin_barrier2.18191289
22MP0010030_abnormal_orbit_morphology2.17471591
23MP0009780_abnormal_chondrocyte_physiolo2.17172310
24MP0003279_aneurysm2.15034073
25MP0005167_abnormal_blood-brain_barrier2.13959486
26MP0004858_abnormal_nervous_system2.10557645
27MP0009840_abnormal_foam_cell2.08351740
28MP0002249_abnormal_larynx_morphology2.06565103
29MP0010368_abnormal_lymphatic_system2.05437795
30MP0005501_abnormal_skin_physiology2.03657228
31MP0008932_abnormal_embryonic_tissue2.01392076
32MP0003122_maternal_imprinting2.00705779
33MP0003941_abnormal_skin_development1.98258245
34MP0005083_abnormal_biliary_tract1.97995658
35MP0000534_abnormal_ureter_morphology1.97658561
36MP0003283_abnormal_digestive_organ1.96707143
37MP0001177_atelectasis1.92409292
38MP0002653_abnormal_ependyma_morphology1.91876149
39MP0008004_abnormal_stomach_pH1.87396100
40MP0000163_abnormal_cartilage_morphology1.85986579
41MP0003385_abnormal_body_wall1.78870641
42MP0003115_abnormal_respiratory_system1.78446316
43MP0002638_abnormal_pupillary_reflex1.78424935
44MP0002295_abnormal_pulmonary_circulatio1.77020998
45MP0003705_abnormal_hypodermis_morpholog1.76719000
46MP0001542_abnormal_bone_strength1.74554024
47MP0001730_embryonic_growth_arrest1.72823194
48MP0005379_endocrine/exocrine_gland_phen1.71679137
49MP0002115_abnormal_skeleton_extremities1.70102426
50MP0005623_abnormal_meninges_morphology1.69520626
51MP0001270_distended_abdomen1.68925699
52MP0005388_respiratory_system_phenotype1.65756732
53MP0002133_abnormal_respiratory_system1.65756732
54MP0003942_abnormal_urinary_system1.64910398
55MP0004957_abnormal_blastocyst_morpholog1.61999392
56MP0001299_abnormal_eye_distance/1.60100131
57MP0002896_abnormal_bone_mineralization1.59778851
58MP0000579_abnormal_nail_morphology1.57551138
59MP0003136_yellow_coat_color1.57423426
60MP0000462_abnormal_digestive_system1.55055646
61MP0002932_abnormal_joint_morphology1.55030021
62MP0000762_abnormal_tongue_morphology1.54744112
63MP0005666_abnormal_adipose_tissue1.54135079
64MP0010094_abnormal_chromosome_stability1.53844060
65MP0002089_abnormal_postnatal_growth/wei1.53722835
66MP0002877_abnormal_melanocyte_morpholog1.49408154
67MP0000428_abnormal_craniofacial_morphol1.48841794
68MP0002233_abnormal_nose_morphology1.48013320
69MP0000537_abnormal_urethra_morphology1.47729382
70MP0004233_abnormal_muscle_weight1.44974087
71MP0004043_abnormal_pH_regulation1.39766378
72MP0003077_abnormal_cell_cycle1.38550413
73MP0002113_abnormal_skeleton_development1.37102547
74MP0009697_abnormal_copulation1.35539902
75MP0005076_abnormal_cell_differentiation1.33429966
76MP0002109_abnormal_limb_morphology1.33119502
77MP0002116_abnormal_craniofacial_bone1.32864188
78MP0000049_abnormal_middle_ear1.32145884
79MP0002108_abnormal_muscle_morphology1.31816366
80MP0005171_absent_coat_pigmentation1.30501276
81MP0003221_abnormal_cardiomyocyte_apopto1.29307421
82MP0008995_early_reproductive_senescence1.27770212
83MP0010678_abnormal_skin_adnexa1.27670204
84MP0004197_abnormal_fetal_growth/weight/1.25550111
85MP0003880_abnormal_central_pattern1.24163536
86MP0006072_abnormal_retinal_apoptosis1.22567287
87MP0003937_abnormal_limbs/digits/tail_de1.19888431
88MP0003693_abnormal_embryo_hatching1.19838444
89MP0003011_delayed_dark_adaptation1.18671599
90MP0000767_abnormal_smooth_muscle1.16998625
91MP0001849_ear_inflammation1.15285841
92MP0005390_skeleton_phenotype1.14927536
93MP0001188_hyperpigmentation1.14196648
94MP0003119_abnormal_digestive_system1.13458918
95MP0003091_abnormal_cell_migration1.13012445
96MP0000432_abnormal_head_morphology1.12804024
97MP0003718_maternal_effect1.11652544
98MP0000383_abnormal_hair_follicle1.11191560
99MP0002933_joint_inflammation1.09850926
100MP0003123_paternal_imprinting1.09513851
101MP0002998_abnormal_bone_remodeling1.07690634
102MP0005253_abnormal_eye_physiology1.05601669
103MP0000733_abnormal_muscle_development1.04432859
104MP0002234_abnormal_pharynx_morphology1.03282770
105MP0000467_abnormal_esophagus_morphology1.01728191
106MP0004883_abnormal_blood_vessel1.01581024
107MP0003453_abnormal_keratinocyte_physiol1.01105784
108MP0003935_abnormal_craniofacial_develop1.01102467
109MP0009333_abnormal_splenocyte_physiolog1.00503858
110MP0001697_abnormal_embryo_size1.00096495
111MP0001175_abnormal_lung_morphology0.99736250
112MP0002060_abnormal_skin_morphology0.98670158
113MP0005220_abnormal_exocrine_pancreas0.98338310
114MP0001970_abnormal_pain_threshold0.95628533
115MP0003755_abnormal_palate_morphology0.94875826
116MP0006035_abnormal_mitochondrial_morpho0.94013305
117MP0001727_abnormal_embryo_implantation0.93995238
118MP0004885_abnormal_endolymph0.93921499
119MP0009278_abnormal_bone_marrow0.91441747
120MP0005257_abnormal_intraocular_pressure0.91372406
121MP0005380_embryogenesis_phenotype0.90759380
122MP0001672_abnormal_embryogenesis/_devel0.90759380
123MP0002085_abnormal_embryonic_tissue0.90475651
124MP0008058_abnormal_DNA_repair0.90151793
125MP0003186_abnormal_redox_activity0.89647743
126MP0005670_abnormal_white_adipose0.89045783
127MP0002938_white_spotting0.88478283
128MP0001943_abnormal_respiration0.88447128
129MP0010771_integument_phenotype0.88383834
130MP0001666_abnormal_nutrient_absorption0.87229183
131MP0000358_abnormal_cell_content/0.85158280
132MP0005164_abnormal_response_to0.84656207
133MP0001879_abnormal_lymphatic_vessel0.84014599
134MP0003724_increased_susceptibility_to0.83316666
135MP0002080_prenatal_lethality0.82926030
136MP0004084_abnormal_cardiac_muscle0.82840817
137MP0003861_abnormal_nervous_system0.82043943
138MP0005023_abnormal_wound_healing0.82017298
139MP0005375_adipose_tissue_phenotype0.81209672
140MP0002084_abnormal_developmental_patter0.81075507
141MP0009053_abnormal_anal_canal0.80988097
142MP0000313_abnormal_cell_death0.80463688
143MP0002733_abnormal_thermal_nociception0.79960961
144MP0001216_abnormal_epidermal_layer0.79820632
145MP0000678_abnormal_parathyroid_gland0.79696061
146MP0009379_abnormal_foot_pigmentation0.79385643
147MP0000350_abnormal_cell_proliferation0.79277970
148MP0000681_abnormal_thyroid_gland0.78982775
149MP0003795_abnormal_bone_structure0.78371769
150MP0002114_abnormal_axial_skeleton0.77887558
151MP0003566_abnormal_cell_adhesion0.76214368
152MP0005391_vision/eye_phenotype0.75823047
153MP0001340_abnormal_eyelid_morphology0.75078524
154MP0001664_abnormal_digestion0.74631316
155MP0000858_altered_metastatic_potential0.73714136
156MP0005595_abnormal_vascular_smooth0.73703573
157MP0009672_abnormal_birth_weight0.73396652
158MP0008872_abnormal_physiological_respon0.72773058
159MP0005187_abnormal_penis_morphology0.71788810
160MP0005377_hearing/vestibular/ear_phenot0.71274699
161MP0003878_abnormal_ear_physiology0.71274699
162MP0000465_gastrointestinal_hemorrhage0.71191548
163MP0004859_abnormal_synaptic_plasticity0.70799426
164MP0001533_abnormal_skeleton_physiology0.68992730
165MP0003984_embryonic_growth_retardation0.68352317
166MP0010234_abnormal_vibrissa_follicle0.68228608
167MP0003329_amyloid_beta_deposits0.67114617
168MP0005248_abnormal_Harderian_gland0.66123301
169MP0003868_abnormal_feces_composition0.66081177
170MP0002086_abnormal_extraembryonic_tissu0.65134330
171MP0002128_abnormal_blood_circulation0.65092474
172MP0000750_abnormal_muscle_regeneration0.64349250
173MP0003045_fibrosis0.64147631
174MP0002111_abnormal_tail_morphology0.62356751

Predicted human phenotypes

RankGene SetZ-score
1Breast hypoplasia (HP:0003187)8.28290777
2Epiphyseal dysplasia (HP:0002656)5.70282056
3Aplasia/Hypoplasia of the sternum (HP:0006714)4.67798644
4Microretrognathia (HP:0000308)4.50761076
5Protrusio acetabuli (HP:0003179)4.47245501
6Broad metatarsal (HP:0001783)4.41095394
7Neonatal short-limb short stature (HP:0008921)4.27377679
8Slender long bone (HP:0003100)4.22993222
9Aplasia/Hypoplasia of the pubic bone (HP:0009104)3.91322883
10Hypoplastic ischia (HP:0003175)3.89398492
11Diastasis recti (HP:0001540)3.87053710
12Large eyes (HP:0001090)3.85657237
13Interstitial pulmonary disease (HP:0006530)3.81729360
14Atrophic scars (HP:0001075)3.74639378
15Long foot (HP:0001833)3.50073572
16Shallow orbits (HP:0000586)3.46921900
17Small epiphyses (HP:0010585)3.42812577
18Premature rupture of membranes (HP:0001788)3.36646422
19Abnormality of the ischium (HP:0003174)3.34822626
20Retinal dysplasia (HP:0007973)3.29129092
21Aplasia/Hypoplasia of the breasts (HP:0010311)3.27024591
22Bell-shaped thorax (HP:0001591)3.21475805
23Abnormality of the phalanges of the 2nd finger (HP:0009541)3.09099536
24Abnormal respiratory epithelium morphology (HP:0012253)3.07529269
25Abnormal respiratory motile cilium morphology (HP:0005938)3.07529269
26Irregular epiphyses (HP:0010582)3.07135096
27Breast aplasia (HP:0100783)3.03687130
28Abnormal respiratory motile cilium physiology (HP:0012261)3.02583621
29Osteoarthritis (HP:0002758)3.02505786
30Abnormality of the middle phalanges of the toes (HP:0010183)3.00030633
31Mild short stature (HP:0003502)2.99798198
32Patellar aplasia (HP:0006443)2.99220857
33Cervical subluxation (HP:0003308)2.99158773
34Nasal speech (HP:0001611)2.92308351
35Protruding tongue (HP:0010808)2.79154606
36Myokymia (HP:0002411)2.78709211
37Aplasia/Hypoplasia of the patella (HP:0006498)2.78196336
38Abnormality of the 2nd finger (HP:0004100)2.74085708
39Mesomelia (HP:0003027)2.71081191
40Ankle contracture (HP:0006466)2.67465901
41Ulnar bowing (HP:0003031)2.67369525
42Flat capital femoral epiphysis (HP:0003370)2.66705842
43Hepatocellular necrosis (HP:0001404)2.66219465
44Abnormality of the clitoris (HP:0000056)2.64827181
45Bladder diverticulum (HP:0000015)2.64205097
46Abnormality of dentin (HP:0010299)2.63405028
47Abnormality of the columella (HP:0009929)2.58617269
48Onycholysis (HP:0001806)2.57487874
49Cupped ribs (HP:0000887)2.54804454
50Increased serum pyruvate (HP:0003542)2.48461033
51Humeroradial synostosis (HP:0003041)2.47391116
52Synostosis involving the elbow (HP:0003938)2.47391116
53Vitreoretinal degeneration (HP:0000655)2.46250438
54Abnormal ciliary motility (HP:0012262)2.45393408
55Dyschromatopsia (HP:0007641)2.45354437
56Atresia of the external auditory canal (HP:0000413)2.44853239
57Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.44681568
58Asymmetry of the thorax (HP:0001555)2.42143856
59Bowing of the arm (HP:0006488)2.39051219
60Bowed forearm bones (HP:0003956)2.39051219
61Vascular tortuosity (HP:0004948)2.37270416
62Chronic bronchitis (HP:0004469)2.33840119
63Follicular hyperkeratosis (HP:0007502)2.33822504
64Short middle phalanx of finger (HP:0005819)2.33614696
65Abnormality of the pubic bones (HP:0003172)2.32988372
66Tubulointerstitial fibrosis (HP:0005576)2.32449714
67Aortic dissection (HP:0002647)2.31025229
68Platyspondyly (HP:0000926)2.30694935
69Poor speech (HP:0002465)2.30207753
70Dysautonomia (HP:0002459)2.29041218
71Aplasia involving bones of the upper limbs (HP:0009823)2.27591366
72Aplasia of the phalanges of the hand (HP:0009802)2.27591366
73Aplasia involving bones of the extremities (HP:0009825)2.27591366
74Central scotoma (HP:0000603)2.27258715
75Genu varum (HP:0002970)2.27131234
76Broad ribs (HP:0000885)2.27047556
77Abnormality of the fingertips (HP:0001211)2.26959485
78Wormian bones (HP:0002645)2.26642861
79Rhinitis (HP:0012384)2.25658453
80Mixed hearing impairment (HP:0000410)2.24973397
81Flattened epiphyses (HP:0003071)2.23540954
82Mitral valve prolapse (HP:0001634)2.21614908
83Biconcave vertebral bodies (HP:0004586)2.20457026
84Spastic paraparesis (HP:0002313)2.19895185
85Abnormal autonomic nervous system physiology (HP:0012332)2.19704238
86Broad long bones (HP:0005622)2.19467204
87Abnormality of glycolysis (HP:0004366)2.19334479
88Elevated erythrocyte sedimentation rate (HP:0003565)2.18882349
89Delayed epiphyseal ossification (HP:0002663)2.18360961
90Hypoplasia of the maxilla (HP:0000327)2.16374567
91Scotoma (HP:0000575)2.16274737
92Turricephaly (HP:0000262)2.14791777
93Coronal craniosynostosis (HP:0004440)2.14692465
94Exostoses (HP:0100777)2.14422293
95Femoral bowing (HP:0002980)2.14345555
96Hypoplastic pelvis (HP:0008839)2.14230169
97Flat acetabular roof (HP:0003180)2.13893732
98Deviation of the hallux (HP:0010051)2.13570409
99Blue sclerae (HP:0000592)2.11654761
100Patchy hypopigmentation of hair (HP:0011365)2.11586876
101Scrotal hypoplasia (HP:0000046)2.10707526
102Abnormal auditory evoked potentials (HP:0006958)2.09510487
103Lumbar hyperlordosis (HP:0002938)2.07707970
104Arterial tortuosity (HP:0005116)2.06544613
105Aortic aneurysm (HP:0004942)2.04268129
106Partial duplication of the phalanx of hand (HP:0009999)2.03180138
107Hallux valgus (HP:0001822)2.02902541
108Respiratory distress (HP:0002098)2.02565285
109Long palpebral fissure (HP:0000637)2.01364130
110Aplasia/Hypoplasia of the brainstem (HP:0007362)2.01259449
111Hypoplasia of the brainstem (HP:0002365)2.01259449
112Aplasia/Hypoplasia involving the musculature (HP:0001460)2.00968993
113Hypoplasia of the odontoid process (HP:0003311)2.00632383
114Birth length less than 3rd percentile (HP:0003561)11.1319568
115Abnormality of carpal bone ossification (HP:0006257)1.99769366
116Bronchomalacia (HP:0002780)1.98601720
117Upper limb muscle weakness (HP:0003484)1.98209817
118Type II lissencephaly (HP:0007260)1.97757670
119Radial bowing (HP:0002986)1.97389148
120Broad phalanx (HP:0006009)1.96241978
121Microtia (HP:0008551)1.95367487
122Rhizomelia (HP:0008905)1.94794619
123Coxa vara (HP:0002812)1.94439480
124Metaphyseal cupping (HP:0003021)1.93222192
125Bowel diverticulosis (HP:0005222)1.92987529
126Genu recurvatum (HP:0002816)1.92748820
127Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.88915224
128Flat cornea (HP:0007720)1.88166183
129Aplasia/Hypoplasia of the sacrum (HP:0008517)1.87791067
130Limited hip movement (HP:0008800)1.87562234
131Dilatation of the ascending aorta (HP:0005111)1.87430687
132Synostosis of carpal bones (HP:0005048)1.87429255
133Achilles tendon contracture (HP:0001771)1.87135245
134Hepatic necrosis (HP:0002605)1.86511160
135Cerebral aneurysm (HP:0004944)1.86212568
136Increased density of long bones (HP:0006392)1.85942024
137Aplasia/Hypoplasia of the 5th finger (HP:0006262)1.85421206
138Barrel-shaped chest (HP:0001552)1.85280531
139Impulsivity (HP:0100710)1.85125745
140Abnormal tarsal ossification (HP:0008369)1.84016801
141Clumsiness (HP:0002312)1.83858956
142Female pseudohermaphroditism (HP:0010458)1.83248860
143Tubular atrophy (HP:0000092)1.81611404
144Buphthalmos (HP:0000557)1.81190138
145Nephronophthisis (HP:0000090)1.81148168
146Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)1.80708156
147Abnormal ossification of hand bones (HP:0005921)1.80101547
148Partial duplication of thumb phalanx (HP:0009944)1.79900030
149Abnormality of the middle phalanges of the hand (HP:0009833)1.79876457
150Short hallux (HP:0010109)1.78728008
151Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.77976455
152Abnormality of the parietal bone (HP:0002696)1.77976065
153Overriding aorta (HP:0002623)1.77894901
154White forelock (HP:0002211)1.76603525
155Limited elbow extension (HP:0001377)1.76407283
156Abnormal hand bone ossification (HP:0010660)1.76058298
157Mitochondrial inheritance (HP:0001427)1.75554116
158Short ribs (HP:0000773)1.75404085
159Abnormality of the humeroradial joint (HP:0100744)1.74969406
160Narrow nasal bridge (HP:0000446)1.74659558
161Hypotelorism (HP:0000601)1.74577293
162Wide anterior fontanel (HP:0000260)1.74172127
163Abnormal vertebral ossification (HP:0100569)1.73457604
164Male infertility (HP:0003251)1.72119418
165Spinal cord compression (HP:0002176)1.69875487
166Parakeratosis (HP:0001036)1.68216368
167Lissencephaly (HP:0001339)1.67994558
168Ragged-red muscle fibers (HP:0003200)1.67935423
169Molar tooth sign on MRI (HP:0002419)1.65937682
170Abnormality of midbrain morphology (HP:0002418)1.65937682
171Increased serum lactate (HP:0002151)1.65687959
172Infertility (HP:0000789)1.65603034
173Calcaneovalgus deformity (HP:0001848)1.63905767
174Abnormality of the aortic arch (HP:0012303)1.63327222
175Hyperglycinemia (HP:0002154)1.63062700
176Bronchiectasis (HP:0002110)1.62671077
177Occipital encephalocele (HP:0002085)1.62389618
178Paraparesis (HP:0002385)1.60578066
179Hypoplastic female external genitalia (HP:0012815)1.58915459
180Alacrima (HP:0000522)1.58880418
181Atelectasis (HP:0100750)1.56293933
182Cerebellar hypoplasia (HP:0001321)1.55611242
183Chronic hepatic failure (HP:0100626)1.53560792
184Hand muscle atrophy (HP:0009130)1.53371853
185Fragile nails (HP:0001808)1.53103045
186Poor head control (HP:0002421)1.52815071
187Disproportionate tall stature (HP:0001519)1.52087519
188Non-midline cleft lip (HP:0100335)1.51659874
189Long clavicles (HP:0000890)1.51368004
190Breech presentation (HP:0001623)1.50297254
191External ophthalmoplegia (HP:0000544)1.49036049
192Adducted thumb (HP:0001181)1.46426017
193Recurrent corneal erosions (HP:0000495)1.45063966
194Abnormality of the Achilles tendon (HP:0005109)1.44277516

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR27.29515705
2BCKDK4.03244014
3ACVR1B3.84753974
4NME13.62978738
5TRIB33.43429515
6PDGFRA3.30589017
7SIK13.29780130
8ZAK2.88472217
9TLK12.87658146
10FGFR22.85183500
11BMPR1B2.60190538
12NEK22.42104029
13RIPK12.38724585
14LATS12.32654620
15BUB12.31035813
16VRK22.29485204
17PBK2.25256264
18PIM22.23231265
19CASK2.21294291
20PDGFRB2.04331262
21NEK12.03114134
22TESK12.02194648
23STK241.96791777
24TIE11.96155773
25EPHB11.89042826
26LMTK21.86344176
27TRIM281.85274235
28LRRK21.79522169
29MELK1.76241985
30TGFBR21.70208558
31PLK41.68743830
32PKN21.67457298
33NME21.67330483
34TYRO31.65850832
35TESK21.61703089
36VRK11.60934897
37PTK61.56228694
38EPHA31.53795134
39MAP3K111.51335756
40CDC71.51031943
41BRAF1.45020449
42SMG11.37655423
43BRSK11.37551418
44EPHB21.35966946
45BMX1.34299362
46NTRK11.30266020
47PRPF4B1.29732057
48DYRK31.29680506
49MAP3K21.29468828
50CAMK1D1.27431226
51DAPK31.27001145
52DMPK1.23448970
53AURKA1.21744536
54LATS21.20285400
55KDR1.19311112
56MAP4K21.17879815
57ADRBK21.15629504
58RPS6KA41.13674071
59MET1.13302459
60ILK1.12148391
61TTK1.11847227
62PAK41.11468488
63SRPK11.10240130
64EIF2AK11.08908391
65TAOK21.08489693
66DAPK21.07436366
67EEF2K1.07428726
68TSSK61.06424805
69FER1.04386940
70MAPKAPK51.01881117
71TGFBR11.00390036
72RET1.00069555
73FGFR10.99993259
74CDK80.99753342
75CAMK1G0.98460190
76PIK3CA0.97352124
77MAP3K60.97331886
78FGFR30.91590797
79PHKG10.91306050
80PHKG20.91306050
81TAOK10.86534090
82STK160.86155700
83ROCK10.85112426
84PRKCH0.84778545
85PTK20.83128690
86ERBB20.79584841
87PLK10.78879616
88GRK10.78207450
89PINK10.76058047
90PRKG20.74455476
91ROCK20.73497928
92ERN10.73105474
93PAK20.72734075
94CAMKK10.71628371
95CDK140.66878599
96GSK3A0.65868489
97MAP2K20.65436544
98NTRK30.64870224
99PRKD20.64732917
100FGR0.63080706
101FGFR40.62704050
102CDK11A0.62420240
103DYRK20.62038398
104MAPK70.59607726
105PRKD30.59415757
106CDK180.59090943
107AURKB0.56974720
108CDK150.56127824
109RPS6KA50.54876426
110CSNK1A1L0.54756328
111ADRBK10.54040270
112CAMK40.53551958
113CDK70.53447043
114PLK30.53106227
115EPHA40.52801200
116CHUK0.51497060
117CDK60.51315176
118MATK0.51111350
119KSR20.50916602
120MAP3K50.50085898
121MAP3K70.49149518
122ABL20.48438576
123PRKCE0.48085271
124RPS6KA20.47933224
125MAPK150.47442233
126PRKD10.47098940
127MAP2K10.46527647
128DYRK1B0.46405688
129ARAF0.45636301
130MARK20.45484253
131MUSK0.45389064
132FES0.45152085
133ZAP700.44822771
134CHEK20.44805365
135TTN0.44629206
136CDC42BPA0.43848989
137ERBB30.43491206
138AKT20.43033273
139IGF1R0.43019327
140MKNK10.42607316
141SIK20.42484922
142PTK2B0.41075845
143NTRK20.39781181
144STK380.39749192
145EPHA20.39224054
146MTOR0.38310847
147RPS6KA60.38157498
148ALK0.37666580
149SRC0.37368183
150MST1R0.36313306
151CDK10.36081541
152STK38L0.34793064
153MAP3K30.33910169
154SGK30.32924692
155PDPK10.32835791
156WNK40.32148002
157PAK30.30521767
158MAP3K80.30238312
159LIMK10.29507435
160PIM10.29295432
161WEE10.29209787
162EGFR0.29024001
163RPS6KC10.28927861
164RPS6KL10.28927861
165STK30.28793068
166FYN0.28327049
167CSNK1G20.28224810
168EIF2AK30.28140438
169NEK60.27856680
170MAPK120.27095877
171CSNK2A10.27011683

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.07705727
2Protein digestion and absorption_Homo sapiens_hsa049743.52294419
3Terpenoid backbone biosynthesis_Homo sapiens_hsa009003.46816287
4DNA replication_Homo sapiens_hsa030303.20151883
5Proteasome_Homo sapiens_hsa030502.82079922
6Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.77610877
7Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.61067528
8Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.59276777
9Ribosome_Homo sapiens_hsa030102.55239767
10Spliceosome_Homo sapiens_hsa030402.54456593
11Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.50794089
12Cell cycle_Homo sapiens_hsa041102.48527314
13Base excision repair_Homo sapiens_hsa034102.45906365
14Steroid biosynthesis_Homo sapiens_hsa001002.43372620
15Sulfur relay system_Homo sapiens_hsa041222.35894440
16Focal adhesion_Homo sapiens_hsa045102.29876959
17Basal cell carcinoma_Homo sapiens_hsa052172.12224122
18Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.07997558
19Fat digestion and absorption_Homo sapiens_hsa049752.06822039
20RNA transport_Homo sapiens_hsa030131.99014676
21Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.83401608
22Hippo signaling pathway_Homo sapiens_hsa043901.77934151
23RNA polymerase_Homo sapiens_hsa030201.66439994
24AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.65078333
25Axon guidance_Homo sapiens_hsa043601.62481373
26mRNA surveillance pathway_Homo sapiens_hsa030151.61552351
27Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.61372149
28Hedgehog signaling pathway_Homo sapiens_hsa043401.61204480
29Cysteine and methionine metabolism_Homo sapiens_hsa002701.60825192
30Pancreatic secretion_Homo sapiens_hsa049721.58544576
31Nucleotide excision repair_Homo sapiens_hsa034201.58279443
32Proteoglycans in cancer_Homo sapiens_hsa052051.53517720
33Biosynthesis of amino acids_Homo sapiens_hsa012301.50441213
34Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.49853784
35Adherens junction_Homo sapiens_hsa045201.48604583
36alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.47804935
37Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.43155875
38Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.41345452
39Melanogenesis_Homo sapiens_hsa049161.41170930
40Pyrimidine metabolism_Homo sapiens_hsa002401.38723660
41Amoebiasis_Homo sapiens_hsa051461.33758562
42TGF-beta signaling pathway_Homo sapiens_hsa043501.30893566
43PI3K-Akt signaling pathway_Homo sapiens_hsa041511.30741933
44Huntingtons disease_Homo sapiens_hsa050161.30660261
45Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.29398636
46Folate biosynthesis_Homo sapiens_hsa007901.25290625
47Arginine and proline metabolism_Homo sapiens_hsa003301.24887574
48Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.24546246
49Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.22179973
50Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.20149239
512-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.20130448
52Platelet activation_Homo sapiens_hsa046111.18650500
53Parkinsons disease_Homo sapiens_hsa050121.18476147
54MicroRNAs in cancer_Homo sapiens_hsa052061.18115154
55Malaria_Homo sapiens_hsa051441.17832376
56Tight junction_Homo sapiens_hsa045301.14496165
57Dilated cardiomyopathy_Homo sapiens_hsa054141.14184433
58Gastric acid secretion_Homo sapiens_hsa049711.13415581
59Bladder cancer_Homo sapiens_hsa052191.13206157
60Wnt signaling pathway_Homo sapiens_hsa043101.13104093
61Salivary secretion_Homo sapiens_hsa049701.12302773
62Mismatch repair_Homo sapiens_hsa034301.11389597
63Non-homologous end-joining_Homo sapiens_hsa034501.09877159
64Gap junction_Homo sapiens_hsa045401.09390532
65Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.07776389
66Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.07391587
67Aldosterone synthesis and secretion_Homo sapiens_hsa049251.07268194
68Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.06212929
69Glioma_Homo sapiens_hsa052141.04356883
70Protein export_Homo sapiens_hsa030601.03947561
71Arginine biosynthesis_Homo sapiens_hsa002201.01113961
72Carbon metabolism_Homo sapiens_hsa012001.00826136
73Cocaine addiction_Homo sapiens_hsa050301.00566212
74Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.00042299
75Thyroid hormone synthesis_Homo sapiens_hsa049180.99749368
76Chronic myeloid leukemia_Homo sapiens_hsa052200.98918303
77Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.98571730
78Rap1 signaling pathway_Homo sapiens_hsa040150.97769181
79Notch signaling pathway_Homo sapiens_hsa043300.96525578
80Pathways in cancer_Homo sapiens_hsa052000.92661422
81Small cell lung cancer_Homo sapiens_hsa052220.92476206
82Glycerolipid metabolism_Homo sapiens_hsa005610.91411215
83Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.90623032
84Glycerophospholipid metabolism_Homo sapiens_hsa005640.88500681
85GnRH signaling pathway_Homo sapiens_hsa049120.88076919
86Renin secretion_Homo sapiens_hsa049240.87107109
87Leukocyte transendothelial migration_Homo sapiens_hsa046700.87027839
88Regulation of actin cytoskeleton_Homo sapiens_hsa048100.86759701
89Melanoma_Homo sapiens_hsa052180.85985192
90Propanoate metabolism_Homo sapiens_hsa006400.85873551
91Lysine degradation_Homo sapiens_hsa003100.85652688
92Ovarian steroidogenesis_Homo sapiens_hsa049130.84185350
93Prostate cancer_Homo sapiens_hsa052150.83772854
94Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.83284578
95Estrogen signaling pathway_Homo sapiens_hsa049150.83191099
96Circadian entrainment_Homo sapiens_hsa047130.83007423
97Oxidative phosphorylation_Homo sapiens_hsa001900.82288312
98Vascular smooth muscle contraction_Homo sapiens_hsa042700.81655435
99RNA degradation_Homo sapiens_hsa030180.81169428
100Long-term depression_Homo sapiens_hsa047300.80963681
101Sphingolipid metabolism_Homo sapiens_hsa006000.79814470
102Tyrosine metabolism_Homo sapiens_hsa003500.79498100
103Mineral absorption_Homo sapiens_hsa049780.77540077
104Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.76917015
105Olfactory transduction_Homo sapiens_hsa047400.76414434
106cGMP-PKG signaling pathway_Homo sapiens_hsa040220.75943145
107Phospholipase D signaling pathway_Homo sapiens_hsa040720.75924490
108Alzheimers disease_Homo sapiens_hsa050100.75013324
109Viral carcinogenesis_Homo sapiens_hsa052030.74186908
110Glutamatergic synapse_Homo sapiens_hsa047240.73911869
111Insulin secretion_Homo sapiens_hsa049110.72654181
112Phenylalanine metabolism_Homo sapiens_hsa003600.72202034
113ErbB signaling pathway_Homo sapiens_hsa040120.72052209
114Basal transcription factors_Homo sapiens_hsa030220.70805334
115Endometrial cancer_Homo sapiens_hsa052130.70654290
116Dorso-ventral axis formation_Homo sapiens_hsa043200.69861206
117Cholinergic synapse_Homo sapiens_hsa047250.69842289
118Neurotrophin signaling pathway_Homo sapiens_hsa047220.69789625
119Homologous recombination_Homo sapiens_hsa034400.69115076
120Vibrio cholerae infection_Homo sapiens_hsa051100.66953242
121Oxytocin signaling pathway_Homo sapiens_hsa049210.65482408
122Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.65224857
123Cyanoamino acid metabolism_Homo sapiens_hsa004600.65201195
124Colorectal cancer_Homo sapiens_hsa052100.64294418
125Lysosome_Homo sapiens_hsa041420.63857805
126Amphetamine addiction_Homo sapiens_hsa050310.63834400
127Renal cell carcinoma_Homo sapiens_hsa052110.63512576
128Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.63033522
129Taste transduction_Homo sapiens_hsa047420.61692910
130Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.61469376
131Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.60600468
132Calcium signaling pathway_Homo sapiens_hsa040200.59773697
133VEGF signaling pathway_Homo sapiens_hsa043700.58356416
134Pancreatic cancer_Homo sapiens_hsa052120.57550831
135Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.55545549
136cAMP signaling pathway_Homo sapiens_hsa040240.55465027
137p53 signaling pathway_Homo sapiens_hsa041150.54245435
138MAPK signaling pathway_Homo sapiens_hsa040100.54238428
139Alcoholism_Homo sapiens_hsa050340.54213902
140Metabolic pathways_Homo sapiens_hsa011000.54023690
141Glycosaminoglycan degradation_Homo sapiens_hsa005310.52886384
142Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.52336473
143Prion diseases_Homo sapiens_hsa050200.51339544
144Endocytosis_Homo sapiens_hsa041440.50868125
145Thyroid hormone signaling pathway_Homo sapiens_hsa049190.50689357
146Non-small cell lung cancer_Homo sapiens_hsa052230.50147333
147Sphingolipid signaling pathway_Homo sapiens_hsa040710.49978403
148TNF signaling pathway_Homo sapiens_hsa046680.49085449
149Ras signaling pathway_Homo sapiens_hsa040140.48236151
150Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.47966431
151Purine metabolism_Homo sapiens_hsa002300.47261642
152Sulfur metabolism_Homo sapiens_hsa009200.46221948
153HTLV-I infection_Homo sapiens_hsa051660.46147113
154Tryptophan metabolism_Homo sapiens_hsa003800.45090764
155Longevity regulating pathway - mammal_Homo sapiens_hsa042110.45084155
156One carbon pool by folate_Homo sapiens_hsa006700.44715015
157Insulin resistance_Homo sapiens_hsa049310.44695514
158Epstein-Barr virus infection_Homo sapiens_hsa051690.44040460
159Dopaminergic synapse_Homo sapiens_hsa047280.43846110
160Choline metabolism in cancer_Homo sapiens_hsa052310.43274850
161Transcriptional misregulation in cancer_Homo sapiens_hsa052020.42689705
162Fatty acid metabolism_Homo sapiens_hsa012120.41329205
163Galactose metabolism_Homo sapiens_hsa000520.41227812
164Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.39488100
165AMPK signaling pathway_Homo sapiens_hsa041520.37657699
166Pyruvate metabolism_Homo sapiens_hsa006200.37631445
167Fatty acid elongation_Homo sapiens_hsa000620.35759140
168Pentose phosphate pathway_Homo sapiens_hsa000300.35157123
169Renin-angiotensin system_Homo sapiens_hsa046140.35052595
170Arachidonic acid metabolism_Homo sapiens_hsa005900.33134229
171Central carbon metabolism in cancer_Homo sapiens_hsa052300.30226811
172Apoptosis_Homo sapiens_hsa042100.29445592
173Fanconi anemia pathway_Homo sapiens_hsa034600.26913590
174Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.24494320
175Cardiac muscle contraction_Homo sapiens_hsa042600.17091128

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