EVX2

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





Description: This gene is located at the 5' end of the HOXD gene cluster on chromosome 2. The encoded protein is a homeobox transcription factor that is related to the protein encoded by the Drosophila even-skipped (eve) gene, a member of the pair-rule class of segmentation genes. A 117 kb microdeletion at the 5' end of the HOXD gene cluster, which includes this gene and the HOXD9-HOXD13 genes, causes synpolydactyly, a dominantly inherited disease resulting in limb malformation. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1fusion of sperm to egg plasma membrane (GO:0007342)9.52072478
2response to pheromone (GO:0019236)9.31774017
3chromosome condensation (GO:0030261)8.82060354
4regulation of branching involved in prostate gland morphogenesis (GO:0060687)8.60122042
5DNA packaging (GO:0006323)8.59991000
6sperm capacitation (GO:0048240)8.47102815
7prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060528.25283813
8single strand break repair (GO:0000012)8.06472809
9branching involved in prostate gland morphogenesis (GO:0060442)7.95080986
10spermatid nucleus differentiation (GO:0007289)7.62646345
11spermatid development (GO:0007286)7.47560462
12microtubule depolymerization (GO:0007019)7.41105140
13plasma membrane fusion (GO:0045026)7.23050280
14protein polyglutamylation (GO:0018095)6.80700080
15cell wall macromolecule catabolic process (GO:0016998)6.75273445
16sperm-egg recognition (GO:0035036)6.66950607
17calcium ion-dependent exocytosis (GO:0017156)6.31352202
18sexual reproduction (GO:0019953)6.29605542
19phosphatidylethanolamine biosynthetic process (GO:0006646)6.26367748
20axonemal dynein complex assembly (GO:0070286)6.19481921
21negative regulation of inclusion body assembly (GO:0090084)6.17942429
22binding of sperm to zona pellucida (GO:0007339)6.17402077
23cell wall macromolecule metabolic process (GO:0044036)6.11574358
24microtubule polymerization or depolymerization (GO:0031109)5.98155014
25microtubule severing (GO:0051013)5.95376309
26multicellular organism reproduction (GO:0032504)5.91665720
27phosphatidylethanolamine metabolic process (GO:0046337)5.82773577
28reproduction (GO:0000003)5.81280590
29rRNA methylation (GO:0031167)5.69190154
30spermatogenesis (GO:0007283)5.64713874
31regulation of mesenchymal cell apoptotic process (GO:2001053)5.64203287
32male gamete generation (GO:0048232)5.62859101
33protein targeting to Golgi (GO:0000042)5.58003610
34forelimb morphogenesis (GO:0035136)5.46001800
35embryonic forelimb morphogenesis (GO:0035115)5.41039479
36cell-cell recognition (GO:0009988)5.40470013
37cellular ketone body metabolic process (GO:0046950)5.36530258
38establishment of protein localization to Golgi (GO:0072600)5.35903137
39retrograde transport, vesicle recycling within Golgi (GO:0000301)5.18946083
40mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)5.14736317
41axon extension involved in axon guidance (GO:0048846)5.14142154
42neuron projection extension involved in neuron projection guidance (GO:1902284)5.14142154
43gamete generation (GO:0007276)5.13086151
44prostate gland epithelium morphogenesis (GO:0060740)5.12553652
45regulation of transcription involved in cell fate commitment (GO:0060850)5.07614173
46proximal/distal pattern formation (GO:0009954)5.02938418
47centriole replication (GO:0007099)5.02589332
48male genitalia development (GO:0030539)5.01497063
49lateral sprouting from an epithelium (GO:0060601)4.94484023
50embryonic skeletal joint morphogenesis (GO:0060272)4.89799049
51negative regulation of axon extension involved in axon guidance (GO:0048843)4.87061741
52branch elongation of an epithelium (GO:0060602)4.80837211
53regulation of somitogenesis (GO:0014807)4.77052413
54ketone body metabolic process (GO:1902224)4.73990393
55rRNA modification (GO:0000154)4.72398052
56embryonic digit morphogenesis (GO:0042733)4.69860954
57positive regulation of Rab GTPase activity (GO:0032851)4.68021508
58regulation of Rab GTPase activity (GO:0032313)4.68021508
59regulation of cilium movement (GO:0003352)4.67820136
60negative regulation of chondrocyte differentiation (GO:0032331)4.67300796
61motile cilium assembly (GO:0044458)4.61529405
62axis elongation (GO:0003401)4.49295854
63regulation of inclusion body assembly (GO:0090083)4.48973534
64chromatin silencing (GO:0006342)4.46888098
65centriole assembly (GO:0098534)4.42831216
66planar cell polarity pathway involved in neural tube closure (GO:0090179)4.42382308
67cilium or flagellum-dependent cell motility (GO:0001539)4.41368128
68negative regulation of axon guidance (GO:1902668)4.38706262
69RNA destabilization (GO:0050779)4.36118322
70paraxial mesoderm development (GO:0048339)4.28263613
71midgut development (GO:0007494)4.24668836
72intestinal epithelial cell development (GO:0060576)4.23324664
73germ cell development (GO:0007281)4.21175231
74multicellular organismal reproductive process (GO:0048609)4.11215593
75uterus development (GO:0060065)4.11126277
76regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)4.08296081
77antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.07935731
78protein localization to Golgi apparatus (GO:0034067)4.07692534
79negative regulation of Rho protein signal transduction (GO:0035024)4.05293816
80reproductive system development (GO:0061458)4.04134150
81regulation of non-canonical Wnt signaling pathway (GO:2000050)4.02510473
82cellular process involved in reproduction in multicellular organism (GO:0022412)3.98331956
83mesenchymal cell differentiation involved in renal system development (GO:2001012)3.96935014
84mesenchymal cell differentiation involved in kidney development (GO:0072161)3.96935014
85embryonic appendage morphogenesis (GO:0035113)3.96654346
86embryonic limb morphogenesis (GO:0030326)3.96654346
87single fertilization (GO:0007338)3.95483446
88morphogenesis of an epithelial fold (GO:0060571)3.92786030
89organ induction (GO:0001759)3.91373309
90regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.89024054
91hindlimb morphogenesis (GO:0035137)3.88288525
92epithelial cilium movement (GO:0003351)3.86048919
93regulation of chondrocyte differentiation (GO:0032330)3.81293276
94middle ear morphogenesis (GO:0042474)3.80705016
95* appendage morphogenesis (GO:0035107)3.80642299
96* limb morphogenesis (GO:0035108)3.80642299
97nucleus organization (GO:0006997)3.80345559
98regulation of microtubule-based movement (GO:0060632)3.80048777
99coenzyme catabolic process (GO:0009109)3.77927811
100bone trabecula formation (GO:0060346)3.76737760
101regulation of nephron tubule epithelial cell differentiation (GO:0072182)3.74497730
102mesenchymal cell proliferation (GO:0010463)3.69505226
103epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)3.58995502
104cranial nerve morphogenesis (GO:0021602)3.58851355
105endothelial cell morphogenesis (GO:0001886)3.58246360
106regulation of axon extension involved in axon guidance (GO:0048841)3.58125158
107regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.57205421
108negative chemotaxis (GO:0050919)3.56274617
109cell migration involved in heart development (GO:0060973)3.54538134
110regulation of centriole replication (GO:0046599)3.54295515
111musculoskeletal movement (GO:0050881)3.53515078
112multicellular organismal movement (GO:0050879)3.53515078
113negative regulation of cartilage development (GO:0061037)3.46367202
114organ formation (GO:0048645)3.45986978
115positive regulation of cartilage development (GO:0061036)3.44472516
116cilium movement (GO:0003341)3.44255326
117regulation of axon guidance (GO:1902667)3.42005329
118cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.41219078
119fertilization (GO:0009566)3.40667124
120regulation of cartilage development (GO:0061035)3.39733383
121postsynaptic membrane organization (GO:0001941)3.37518027
122cranial suture morphogenesis (GO:0060363)3.36774704
123metanephric mesenchyme development (GO:0072075)3.34121404
124regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)3.32870043
125positive regulation of smoothened signaling pathway (GO:0045880)3.32818674
126regulation of organ formation (GO:0003156)3.30073778
127positive regulation of chondrocyte differentiation (GO:0032332)3.28897734
128dopaminergic neuron differentiation (GO:0071542)3.28515489
129seminiferous tubule development (GO:0072520)3.28188186
130cerebral cortex neuron differentiation (GO:0021895)3.25362396
131nucleosome disassembly (GO:0006337)3.24917932
132protein-DNA complex disassembly (GO:0032986)3.24917932
133response to acidic pH (GO:0010447)3.24677729
134head development (GO:0060322)3.23281811
135regulation of epithelial cell differentiation involved in kidney development (GO:2000696)3.23111474
136organic cation transport (GO:0015695)3.22437738
137cochlea morphogenesis (GO:0090103)3.22061017
138Wnt signaling pathway, planar cell polarity pathway (GO:0060071)3.21646851
139genitalia development (GO:0048806)3.20341741
140outer ear morphogenesis (GO:0042473)3.18877160
141embryonic skeletal system development (GO:0048706)3.14697627
142positive regulation of interleukin-8 secretion (GO:2000484)3.14466769
143negative regulation of gene expression, epigenetic (GO:0045814)3.14154067
144artery development (GO:0060840)3.13068042
145embryonic hindlimb morphogenesis (GO:0035116)3.09952560
146convergent extension (GO:0060026)3.09220370
147urogenital system development (GO:0001655)3.08425334
148histone H3-K9 demethylation (GO:0033169)3.07585466
149polyamine biosynthetic process (GO:0006596)3.06584805
150regulation of establishment of planar polarity (GO:0090175)3.06148081
151non-canonical Wnt signaling pathway (GO:0035567)3.05365926
152chondrocyte proliferation (GO:0035988)3.05282922
153cellular response to pH (GO:0071467)3.05163405
154DNA strand renaturation (GO:0000733)3.04975206
155craniofacial suture morphogenesis (GO:0097094)3.04379132
156embryonic cranial skeleton morphogenesis (GO:0048701)3.03644693
157metanephric tubule development (GO:0072170)3.01986955
158metanephric nephron tubule development (GO:0072234)3.01986955
159regulation of interleukin-13 production (GO:0032656)3.00467741
160homeostasis of number of cells within a tissue (GO:0048873)2.98770591
161negative regulation of catenin import into nucleus (GO:0035414)2.98252772
162negative regulation of mesenchymal cell apoptotic process (GO:2001054)2.95938804
163mesenchyme morphogenesis (GO:0072132)2.95701094
164gastrulation with mouth forming second (GO:0001702)2.94688395
165glycerol ether metabolic process (GO:0006662)2.92388664
166establishment of tissue polarity (GO:0007164)2.92261222
167establishment of planar polarity (GO:0001736)2.92261222
168genitalia morphogenesis (GO:0035112)2.92225814
169cell recognition (GO:0008037)2.91294216
170kidney mesenchyme development (GO:0072074)2.90779501
171negative regulation of histone methylation (GO:0031061)2.89903919
172regulation of T-helper 2 cell differentiation (GO:0045628)2.89520818
173regulation of morphogenesis of a branching structure (GO:0060688)2.88837039
174cell proliferation involved in metanephros development (GO:0072203)2.87969962
175protein localization to cilium (GO:0061512)2.87933007
176cell surface receptor signaling pathway involved in heart development (GO:0061311)2.87189155
177G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.86697361
178neurofilament cytoskeleton organization (GO:0060052)2.85038095
179somite rostral/caudal axis specification (GO:0032525)2.84410094
180mesenchymal cell differentiation (GO:0048762)2.83000074
181multicellular organismal development (GO:0007275)2.82840394
182tooth mineralization (GO:0034505)2.81290512
183positive regulation of mesenchymal cell proliferation (GO:0002053)2.78825172
184mesenchymal to epithelial transition (GO:0060231)2.78453148
185microtubule nucleation (GO:0007020)2.77161579
186collecting duct development (GO:0072044)2.75909075
187regulation of heart morphogenesis (GO:2000826)2.74721784
188endocardial cushion morphogenesis (GO:0003203)2.74560530
189regulation of phosphoprotein phosphatase activity (GO:0043666)2.74063051
190polarized epithelial cell differentiation (GO:0030859)2.73648256
191chondrocyte development (GO:0002063)2.73144463
192embryonic skeletal system morphogenesis (GO:0048704)2.72507379
193DNA conformation change (GO:0071103)2.70855438
194peptidyl-threonine dephosphorylation (GO:0035970)2.70074684
195acrosome reaction (GO:0007340)11.5715191
196sperm motility (GO:0030317)11.0570077

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.77478478
2MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human3.39938549
3* EED_16625203_ChIP-ChIP_MESCs_Mouse3.34950529
4GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.33427422
5* EZH2_27304074_Chip-Seq_ESCs_Mouse2.99483964
6TP63_19390658_ChIP-ChIP_HaCaT_Human2.97903825
7* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.85921597
8* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.85921597
9* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.83573190
10SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.82141892
11* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.76073088
12* BMI1_23680149_ChIP-Seq_NPCS_Mouse2.75802510
13EZH2_22144423_ChIP-Seq_EOC_Human2.73879884
14* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.67843899
15* CBX2_27304074_Chip-Seq_ESCs_Mouse2.66880075
16ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.66865045
17* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.62358141
18* PHC1_16625203_ChIP-ChIP_MESCs_Mouse2.60362695
19* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.52234196
20CTBP2_25329375_ChIP-Seq_LNCAP_Human2.47586695
21* RNF2_16625203_ChIP-ChIP_MESCs_Mouse2.44768174
22* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.42317157
23STAT6_21828071_ChIP-Seq_BEAS2B_Human2.41566459
24* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.40547837
25HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.27831604
26RBPJ_22232070_ChIP-Seq_NCS_Mouse2.24691754
27RNF2_27304074_Chip-Seq_ESCs_Mouse2.21793120
28WT1_19549856_ChIP-ChIP_CCG9911_Human2.21414753
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.16175574
30EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.15475013
31CTBP1_25329375_ChIP-Seq_LNCAP_Human2.08494014
32FUS_26573619_Chip-Seq_HEK293_Human2.05913478
33CDX2_19796622_ChIP-Seq_MESCs_Mouse2.05219446
34IRF4_20064451_ChIP-Seq_CD4+T_Mouse2.02063533
35CBP_20019798_ChIP-Seq_JUKART_Human2.02063533
36* TP53_20018659_ChIP-ChIP_R1E_Mouse2.01050527
37* EZH2_27294783_Chip-Seq_ESCs_Mouse1.96991841
38GBX2_23144817_ChIP-Seq_PC3_Human1.94961926
39* RING1B_27294783_Chip-Seq_NPCs_Mouse1.93212718
40CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.88867436
41CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.84244052
42TRIM28_21343339_ChIP-Seq_HEK293_Human1.83267515
43TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.80370774
44* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.77592567
45TAF15_26573619_Chip-Seq_HEK293_Human1.75400545
46VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.75344723
47WDR5_24793694_ChIP-Seq_LNCAP_Human1.71703566
48* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.70039650
49ELF1_20517297_ChIP-Seq_JURKAT_Human1.68226329
50MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.67018024
51ERA_21632823_ChIP-Seq_H3396_Human1.63152493
52RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.62857146
53EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.62599688
54CTCF_27219007_Chip-Seq_Bcells_Human1.62439341
55UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.61791445
56POU5F1_16153702_ChIP-ChIP_HESCs_Human1.59503324
57NANOG_20526341_ChIP-Seq_ESCs_Human1.58956344
58ARNT_22903824_ChIP-Seq_MCF-7_Human1.56735628
59* RING1B_27294783_Chip-Seq_ESCs_Mouse1.56069497
60WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.52626907
61* EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.52392043
62ER_23166858_ChIP-Seq_MCF-7_Human1.52257307
63GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.50907249
64TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.48209248
65ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.47962792
66* TP53_18474530_ChIP-ChIP_U2OS_Human1.47741978
67RAC3_21632823_ChIP-Seq_H3396_Human1.47544369
68ETV2_25802403_ChIP-Seq_MESCs_Mouse1.47485268
69AR_25329375_ChIP-Seq_VCAP_Human1.46364628
70TP53_16413492_ChIP-PET_HCT116_Human1.44055668
71EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.43929964
72ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.43890187
73* RARG_19884340_ChIP-ChIP_MEFs_Mouse1.43588923
74TOP2B_26459242_ChIP-Seq_MCF-7_Human1.41777717
75* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.39835691
76SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.39762668
77YY1_22570637_ChIP-Seq_MALME-3M_Human1.38432143
78SMAD3_21741376_ChIP-Seq_ESCs_Human1.37844612
79SMAD_19615063_ChIP-ChIP_OVARY_Human1.37713179
80* TAF2_19829295_ChIP-Seq_ESCs_Human1.36546914
81* RNF2_27304074_Chip-Seq_NSC_Mouse1.36268618
82SMC4_20622854_ChIP-Seq_HELA_Human1.35754255
83REST_21632747_ChIP-Seq_MESCs_Mouse1.35739437
84E2F1_20622854_ChIP-Seq_HELA_Human1.35275790
85ZFP281_27345836_Chip-Seq_ESCs_Mouse1.33254775
86TDRD3_21172665_ChIP-Seq_MCF-7_Human1.33072437
87PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.32636062
88SMAD4_21741376_ChIP-Seq_EPCs_Human1.31790263
89TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.31442689
90ISL1_27105846_Chip-Seq_CPCs_Mouse1.30844861
91CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.29989922
92ZNF217_24962896_ChIP-Seq_MCF-7_Human1.29678770
93MYC_19829295_ChIP-Seq_ESCs_Human1.29626736
94PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.29512539
95VDR_22108803_ChIP-Seq_LS180_Human1.27273359
96BCL6_27268052_Chip-Seq_Bcells_Human1.26432281
97AUTS2_25519132_ChIP-Seq_293T-REX_Human1.26237294
98TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.25252509
99PHF8_20622854_ChIP-Seq_HELA_Human1.24538955
100TCF4_18268006_ChIP-ChIP_LS174T_Human1.23110281
101ZFP57_27257070_Chip-Seq_ESCs_Mouse1.21633111
102CTCF_20526341_ChIP-Seq_ESCs_Human1.20882831
103EP300_21415370_ChIP-Seq_HL-1_Mouse1.18775716
104P68_20966046_ChIP-Seq_HELA_Human1.16926266
105CBX2_22325352_ChIP-Seq_293T-Rex_Human1.16546326
106OCT4_20526341_ChIP-Seq_ESCs_Human1.16200589
107PCGF2_27294783_Chip-Seq_NPCs_Mouse1.15678747
108KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.15022543
109SOX2_22085726_ChIP-Seq_NPCs_Mouse1.13570448
110HNFA_21074721_ChIP-Seq_CACO-2_Human1.13403263
111ETV1_20927104_ChIP-Seq_GIST48_Human1.13172210
112BCOR_27268052_Chip-Seq_Bcells_Human1.12855850
113SOX2_16153702_ChIP-ChIP_HESCs_Human1.12796264
114SMAD4_21799915_ChIP-Seq_A2780_Human1.12193549
115ZNF274_21170338_ChIP-Seq_K562_Hela1.11783567
116RBPJ_21746931_ChIP-Seq_IB4_Human1.10832367
117CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.10333491
118TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.10282489
119FOXM1_23109430_ChIP-Seq_U2OS_Human1.10009118
120* SMAD4_21741376_ChIP-Seq_HESCs_Human1.09867597
121REST_18959480_ChIP-ChIP_MESCs_Mouse1.09407706
122TBL1_22424771_ChIP-Seq_293T_Human1.09004860
123SMAD3_21741376_ChIP-Seq_EPCs_Human1.08982846
124GATA3_21878914_ChIP-Seq_MCF-7_Human1.08911100
125RUNX2_22187159_ChIP-Seq_PCA_Human1.08908221
126EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.08621414
127TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08485406
128* TP63_22573176_ChIP-Seq_HFKS_Human1.08374953
129LXR_22292898_ChIP-Seq_THP-1_Human1.08285003
130TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.07617687
131AR_21572438_ChIP-Seq_LNCaP_Human1.07025556
132NFYB_21822215_ChIP-Seq_K562_Human1.06427919
133CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.05463249
134PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.05157863
135KLF5_20875108_ChIP-Seq_MESCs_Mouse1.04425440
136DROSHA_22980978_ChIP-Seq_HELA_Human1.03489141
137CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.03170316
138TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.02529758
139OCT1_27270436_Chip-Seq_PROSTATE_Human1.02403596
140AR_19668381_ChIP-Seq_PC3_Human1.01209807
141SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.00778060
142NR3C1_21868756_ChIP-Seq_MCF10A_Human0.99875400
143* KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.99251561
144RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.99016664
145* FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.97501867
146NANOG_18555785_Chip-Seq_ESCs_Mouse0.95224278
147VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.94137261
148EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.93366470
149POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.92697406
150TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92697406
151WT1_25993318_ChIP-Seq_PODOCYTE_Human0.90285397
152P300_19829295_ChIP-Seq_ESCs_Human0.88905267
153ZFP281_18757296_ChIP-ChIP_E14_Mouse0.88826103
154TCF3_18347094_ChIP-ChIP_MESCs_Mouse0.88214562
155EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.87684533
156CDX2_20551321_ChIP-Seq_CACO-2_Human0.87396655
157SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.86041643
158HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.85623766
159NFIB_24661679_ChIP-Seq_LUNG_Mouse0.85564925
160STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.85445079
161SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.85308664
162CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.85219169
163* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.84087858
164YAP1_20516196_ChIP-Seq_MESCs_Mouse0.83420816
165CTNNB1_20460455_ChIP-Seq_HCT116_Human0.83420343
166POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.81753030
167ESR1_20079471_ChIP-ChIP_T-47D_Human0.81342295
168SUZ12_27294783_Chip-Seq_NPCs_Mouse0.81306785
169RXR_22108803_ChIP-Seq_LS180_Human0.80276432
170PIAS1_25552417_ChIP-Seq_VCAP_Human0.80084313
171CJUN_26792858_Chip-Seq_BT549_Human0.79821110
172* KDM2B_26808549_Chip-Seq_K562_Human0.79302404
173SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.78689467

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009053_abnormal_anal_canal8.22316318
2MP0000537_abnormal_urethra_morphology5.66429011
3MP0003283_abnormal_digestive_organ5.45919535
4MP0005187_abnormal_penis_morphology4.85594582
5MP0005670_abnormal_white_adipose4.27260807
6MP0005377_hearing/vestibular/ear_phenot4.19051492
7MP0003878_abnormal_ear_physiology4.19051492
8* MP0003698_abnormal_male_reproductive3.97086228
9MP0002822_catalepsy3.82133934
10MP0003315_abnormal_perineum_morphology3.30348169
11MP0001929_abnormal_gametogenesis3.30203826
12MP0003937_abnormal_limbs/digits/tail_de3.05279735
13MP0009250_abnormal_appendicular_skeleto2.65352349
14MP0005367_renal/urinary_system_phenotyp2.59900679
15MP0000516_abnormal_urinary_system2.59900679
16MP0003385_abnormal_body_wall2.59332781
17MP0010030_abnormal_orbit_morphology2.57882357
18MP0005503_abnormal_tendon_morphology2.48876714
19MP0003941_abnormal_skin_development2.42759178
20* MP0002161_abnormal_fertility/fecundity2.27600777
21MP0002735_abnormal_chemical_nociception2.27032511
22MP0000678_abnormal_parathyroid_gland2.20605694
23MP0003718_maternal_effect2.08536942
24MP0002932_abnormal_joint_morphology2.07288065
25MP0003123_paternal_imprinting2.06755137
26MP0002234_abnormal_pharynx_morphology2.04900673
27MP0005410_abnormal_fertilization10.7505591
28MP0003942_abnormal_urinary_system1.99895359
29MP0000049_abnormal_middle_ear1.98665711
30MP0000566_synostosis1.87603746
31MP0002132_abnormal_respiratory_system1.84063685
32MP0004859_abnormal_synaptic_plasticity1.83817685
33MP0004134_abnormal_chest_morphology1.82661608
34MP0001968_abnormal_touch/_nociception1.80278338
35MP0000534_abnormal_ureter_morphology1.70095199
36MP0001486_abnormal_startle_reflex1.69981238
37MP0000462_abnormal_digestive_system1.69973326
38MP0003119_abnormal_digestive_system1.65475104
39MP0008438_abnormal_cutaneous_collagen1.63603071
40MP0005508_abnormal_skeleton_morphology1.61351796
41* MP0002115_abnormal_skeleton_extremities1.56620718
42MP0004742_abnormal_vestibular_system1.56286494
43MP0000538_abnormal_urinary_bladder1.56166138
44* MP0002109_abnormal_limb_morphology1.54956332
45MP0001346_abnormal_lacrimal_gland1.51083338
46MP0002210_abnormal_sex_determination1.49507158
47MP0000383_abnormal_hair_follicle1.47461855
48MP0002249_abnormal_larynx_morphology1.46413538
49MP0002928_abnormal_bile_duct1.45000813
50MP0002734_abnormal_mechanical_nocicepti1.42446895
51MP0003011_delayed_dark_adaptation1.40397438
52MP0010678_abnormal_skin_adnexa1.39868275
53MP0000955_abnormal_spinal_cord1.38621672
54MP0004270_analgesia1.38042175
55* MP0002114_abnormal_axial_skeleton1.33092940
56MP0003890_abnormal_embryonic-extraembry1.31076186
57MP0003122_maternal_imprinting1.30892088
58MP0001485_abnormal_pinna_reflex1.30537303
59MP0001849_ear_inflammation1.30434358
60MP0000579_abnormal_nail_morphology1.29636801
61MP0002282_abnormal_trachea_morphology1.29424649
62MP0002233_abnormal_nose_morphology1.29081060
63MP0003646_muscle_fatigue1.28472681
64MP0003705_abnormal_hypodermis_morpholog1.28047292
65MP0003755_abnormal_palate_morphology1.27631829
66MP0005379_endocrine/exocrine_gland_phen1.26441986
67MP0002751_abnormal_autonomic_nervous1.26069980
68MP0002116_abnormal_craniofacial_bone1.25011130
69MP0000767_abnormal_smooth_muscle1.24682771
70MP0000762_abnormal_tongue_morphology1.22910881
71MP0001145_abnormal_male_reproductive1.21853731
72MP0000653_abnormal_sex_gland1.21256563
73MP0005248_abnormal_Harderian_gland1.19232801
74MP0001984_abnormal_olfaction1.19173758
75MP0002113_abnormal_skeleton_development1.19146190
76MP0001963_abnormal_hearing_physiology1.18593587
77MP0003879_abnormal_hair_cell1.17126703
78MP0000026_abnormal_inner_ear1.16282191
79MP0000647_abnormal_sebaceous_gland1.16234604
80MP0000733_abnormal_muscle_development1.16066602
81MP0002733_abnormal_thermal_nociception1.15678386
82MP0003115_abnormal_respiratory_system1.13434683
83MP0010234_abnormal_vibrissa_follicle1.11763907
84MP0003938_abnormal_ear_development1.10519375
85MP0001188_hyperpigmentation1.09529350
86MP0000163_abnormal_cartilage_morphology1.07214803
87MP0003121_genomic_imprinting1.05468278
88MP0003935_abnormal_craniofacial_develop1.05098728
89MP0006054_spinal_hemorrhage1.05091493
90MP0002272_abnormal_nervous_system1.04145087
91MP0001970_abnormal_pain_threshold1.03456739
92MP0000778_abnormal_nervous_system1.02827037
93MP0000428_abnormal_craniofacial_morphol1.01712315
94MP0002938_white_spotting1.01348427
95MP0003880_abnormal_central_pattern1.00424466
96MP0005551_abnormal_eye_electrophysiolog1.00240108
97MP0006276_abnormal_autonomic_nervous0.99905377
98MP0002177_abnormal_outer_ear0.99491176
99MP0003635_abnormal_synaptic_transmissio0.98767331
100MP0005310_abnormal_salivary_gland0.98282467
101MP0002127_abnormal_cardiovascular_syste0.97764189
102MP0002572_abnormal_emotion/affect_behav0.97281110
103MP0000432_abnormal_head_morphology0.96422256
104MP0001879_abnormal_lymphatic_vessel0.96090705
105MP0002557_abnormal_social/conspecific_i0.94908137
106MP0002067_abnormal_sensory_capabilities0.94385369
107MP0005623_abnormal_meninges_morphology0.93801074
108MP0003136_yellow_coat_color0.92869036
109MP0003279_aneurysm0.91720319
110MP0002111_abnormal_tail_morphology0.90355437
111MP0009745_abnormal_behavioral_response0.89838271
112MP0005257_abnormal_intraocular_pressure0.89177302
113MP0002277_abnormal_respiratory_mucosa0.87477107
114MP0001299_abnormal_eye_distance/0.87129373
115* MP0003861_abnormal_nervous_system0.86909811
116MP0004272_abnormal_basement_membrane0.85263660
117MP0002229_neurodegeneration0.83603985
118MP0008995_early_reproductive_senescence0.83268957
119MP0002138_abnormal_hepatobiliary_system0.81088779
120MP0004510_myositis0.80992349
121MP0001293_anophthalmia0.79316470
122MP0003137_abnormal_impulse_conducting0.79172741
123MP0001348_abnormal_lacrimal_gland0.78841810
124* MP0002085_abnormal_embryonic_tissue0.78692330
125MP0009384_cardiac_valve_regurgitation0.78252653
126MP0002098_abnormal_vibrissa_morphology0.77334009
127MP0004085_abnormal_heartbeat0.77142554
128MP0008569_lethality_at_weaning0.77008326
129MP0002736_abnormal_nociception_after0.76211724
130MP0002092_abnormal_eye_morphology0.74384499
131MP0000467_abnormal_esophagus_morphology0.73293835
132MP0001905_abnormal_dopamine_level0.73118427
133MP0002882_abnormal_neuron_morphology0.73003292
134MP0005275_abnormal_skin_tensile0.72149281
135MP0002697_abnormal_eye_size0.70719344
136MP0001440_abnormal_grooming_behavior0.70047994
137MP0002063_abnormal_learning/memory/cond0.69380757
138MP0001765_abnormal_ion_homeostasis0.69175848
139MP0002160_abnormal_reproductive_system0.68792007
140MP0002084_abnormal_developmental_patter0.68509120
141MP0005395_other_phenotype0.68477737
142MP0002081_perinatal_lethality0.68151221
143MP0005394_taste/olfaction_phenotype0.67601374
144MP0005499_abnormal_olfactory_system0.67601374
145MP0002896_abnormal_bone_mineralization0.67413024
146MP0009115_abnormal_fat_cell0.64778998
147MP0009697_abnormal_copulation0.64289044
148MP0005423_abnormal_somatic_nervous0.63801769
149MP0009046_muscle_twitch0.63669396
150MP0001340_abnormal_eyelid_morphology0.63365503
151MP0005666_abnormal_adipose_tissue0.63175053
152MP0006292_abnormal_olfactory_placode0.62375015
153MP0001664_abnormal_digestion0.62329117
154MP0005197_abnormal_uvea_morphology0.62032454
155MP0000631_abnormal_neuroendocrine_gland0.61780600
156MP0002064_seizures0.61738150
157MP0005646_abnormal_pituitary_gland0.60594697
158MP0001177_atelectasis0.59191311
159MP0004811_abnormal_neuron_physiology0.58220077
160MP0003567_abnormal_fetal_cardiomyocyte0.56736480
161MP0009703_decreased_birth_body0.56116578
162MP0000477_abnormal_intestine_morphology0.55664920
163MP0002752_abnormal_somatic_nervous0.55501911
164MP0005084_abnormal_gallbladder_morpholo0.55297300
165MP0002653_abnormal_ependyma_morphology0.55042848
166MP0002184_abnormal_innervation0.54642787
167MP0000681_abnormal_thyroid_gland0.53984543
168MP0005083_abnormal_biliary_tract0.53727183
169MP0001529_abnormal_vocalization0.52921111
170MP0008877_abnormal_DNA_methylation0.52863952
171MP0008789_abnormal_olfactory_epithelium0.51022933
172MP0003936_abnormal_reproductive_system0.50511044
173MP0003699_abnormal_female_reproductive0.50192140
174MP0001501_abnormal_sleep_pattern0.49888060
175MP0001286_abnormal_eye_development0.49811310
176MP0001666_abnormal_nutrient_absorption0.49591170
177MP0005389_reproductive_system_phenotype0.48826231
178MP0005375_adipose_tissue_phenotype0.47705992

Predicted human phenotypes

RankGene SetZ-score
1Severe visual impairment (HP:0001141)7.84911874
2Short middle phalanx of the 5th finger (HP:0004220)6.51371643
3Dynein arm defect of respiratory motile cilia (HP:0012255)6.16410421
4Absent/shortened dynein arms (HP:0200106)6.16410421
5Abnormality of the phalanges of the hallux (HP:0010057)5.67958123
6Abnormal ciliary motility (HP:0012262)5.03230312
7Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)4.99598445
8Abnormality of the 4th metacarpal (HP:0010012)4.96513906
9Short 5th finger (HP:0009237)4.89030619
10Attenuation of retinal blood vessels (HP:0007843)4.68669720
11Abnormal respiratory motile cilium physiology (HP:0012261)4.62740180
12Abnormality of the middle phalanx of the 5th finger (HP:0004219)4.60050333
13Parkinsonism with favorable response to dopaminergic medication (HP:0002548)4.59446030
14Aplasia/Hypoplasia of the 5th finger (HP:0006262)4.55270841
15Mesomelia (HP:0003027)4.54111196
16Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)4.53065429
17Abnormality of the middle phalanges of the toes (HP:0010183)4.51182912
18Fibular aplasia (HP:0002990)4.45686728
19Abnormal respiratory epithelium morphology (HP:0012253)4.45625097
20Abnormal respiratory motile cilium morphology (HP:0005938)4.45625097
21Bony spicule pigmentary retinopathy (HP:0007737)4.45004374
22Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)4.42756928
23Short 1st metacarpal (HP:0010034)4.42756928
24Chronic hepatic failure (HP:0100626)4.41028340
25Broad distal phalanx of finger (HP:0009836)4.32322772
26Asymmetric septal hypertrophy (HP:0001670)4.27255472
27Abnormality of the phalanges of the 5th finger (HP:0004213)4.22989756
28Ureteral stenosis (HP:0000071)4.22845651
29Tubulointerstitial nephritis (HP:0001970)4.11044908
30Infertility (HP:0000789)3.99515041
31Ureteral obstruction (HP:0006000)3.97510584
32Cutaneous finger syndactyly (HP:0010554)3.93550730
33Abnormality of the 1st metacarpal (HP:0010009)3.86864797
34Resting tremor (HP:0002322)3.81074006
35Single umbilical artery (HP:0001195)3.74203830
36Abnormality of the fetal cardiovascular system (HP:0010948)3.74203830
37Abnormal umbilical cord blood vessels (HP:0011403)3.74203830
38Nasal polyposis (HP:0100582)3.71496691
39Bell-shaped thorax (HP:0001591)3.70221822
40Abnormality of the distal phalanges of the toes (HP:0010182)3.70196912
41Abnormality of the 2nd finger (HP:0004100)3.70166971
42Facial shape deformation (HP:0011334)3.69174203
43Potter facies (HP:0002009)3.69174203
44Male infertility (HP:0003251)3.65405340
45Abnormality of the distal phalanx of the thumb (HP:0009617)3.65085496
46Hyperkalemia (HP:0002153)3.64880130
47Short middle phalanx of finger (HP:0005819)3.64746209
48Abnormal rod and cone electroretinograms (HP:0008323)3.63158897
49Impulsivity (HP:0100710)3.62998821
50Absent phalangeal crease (HP:0006109)3.62416864
51Asymmetry of the thorax (HP:0001555)3.51230417
52Symphalangism affecting the phalanges of the hand (HP:0009773)3.45143845
53Hypoplastic ischia (HP:0003175)3.44440190
54Deviation of the hallux (HP:0010051)3.44228325
55Ulnar deviation of finger (HP:0009465)3.37139234
56Postural instability (HP:0002172)3.36523644
57Cutaneous syndactyly (HP:0012725)3.36428333
58Aplasia/Hypoplasia of the earlobes (HP:0009906)3.27532810
59Congenital malformation of the right heart (HP:0011723)3.27460702
60Double outlet right ventricle (HP:0001719)3.27460702
61Abnormality of the aortic arch (HP:0012303)3.26819461
62Azoospermia (HP:0000027)3.26469558
63Esophageal atresia (HP:0002032)3.25927856
64Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.24089707
65Abnormality of the ischium (HP:0003174)3.20132558
66Nephronophthisis (HP:0000090)3.17115864
67Abnormality of macular pigmentation (HP:0008002)3.15872390
68Carpal synostosis (HP:0009702)3.06087171
69Unilateral renal agenesis (HP:0000122)3.05308524
70Short phalanx of the thumb (HP:0009660)3.05138412
71Abnormal finger flexion creases (HP:0006143)3.04565669
72Abnormality of the nasal mucosa (HP:0000433)3.02949214
73Hypoplasia of the thymus (HP:0000778)3.02808467
74Enlarged epiphyses (HP:0010580)2.99663445
75Short hallux (HP:0010109)2.99180263
76Bifid scrotum (HP:0000048)2.99109596
77Abnormal spermatogenesis (HP:0008669)2.91376776
78Septate vagina (HP:0001153)2.91113837
79Hallux valgus (HP:0001822)2.85235715
80Progressive cerebellar ataxia (HP:0002073)2.83952464
81Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.83172591
82Short 4th metacarpal (HP:0010044)2.83172591
83Cone-rod dystrophy (HP:0000548)2.82569405
84Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)2.78978085
85Myokymia (HP:0002411)2.77706969
86Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)2.73413683
87Ectopic kidney (HP:0000086)2.73184105
88Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.72401217
89Renal duplication (HP:0000075)2.72235032
90Concave nail (HP:0001598)2.71624785
91Aplasia/Hypoplasia of the hallux (HP:0008362)2.70237473
92Preaxial foot polydactyly (HP:0001841)2.65170291
93Synostosis involving bones of the hand (HP:0004278)2.64998097
94Aplasia/Hypoplasia of metatarsal bones (HP:0001964)2.63923810
95Generalized aminoaciduria (HP:0002909)2.63822671
96Synostosis of carpal bones (HP:0005048)2.62917789
97Broad thumb (HP:0011304)2.62170112
98Renal dysplasia (HP:0000110)2.61930278
99Rhinitis (HP:0012384)2.60602522
100Abnormality of the parathyroid morphology (HP:0011766)2.58524130
101Abnormality of the middle phalanges of the hand (HP:0009833)2.57784068
102Abnormality of the phalanges of the 2nd finger (HP:0009541)2.55154314
103Shallow orbits (HP:0000586)2.54161478
104Progressive sensorineural hearing impairment (HP:0000408)2.53955815
105Abnormality of the intervertebral disk (HP:0005108)2.53771958
106Abnormal urine output (HP:0012590)2.52851837
107Ulnar deviation of the hand or of fingers of the hand (HP:0001193)2.52692061
108Abnormality of the renal medulla (HP:0100957)2.51191784
109Abnormality of carpal bone ossification (HP:0006257)2.47204937
110Hypoalphalipoproteinemia (HP:0003233)2.46021802
111Short clavicles (HP:0000894)2.45549413
112Amelogenesis imperfecta (HP:0000705)2.42634115
113Amblyopia (HP:0000646)2.41972569
114Osteomalacia (HP:0002749)2.40273232
115Short metatarsal (HP:0010743)2.39944201
116Abnormal tarsal ossification (HP:0008369)2.38849994
117Aplasia/Hypoplasia of the clavicles (HP:0006710)2.31641864
118Pigmentary retinal degeneration (HP:0001146)2.31133840
119Wrist flexion contracture (HP:0001239)2.30031856
120Abnormality of potassium homeostasis (HP:0011042)2.29878994
121Tracheal stenosis (HP:0002777)2.29516558
122Stage 5 chronic kidney disease (HP:0003774)2.28257720
123Renal Fanconi syndrome (HP:0001994)2.26171503
124Truncal obesity (HP:0001956)2.23309987
125Abnormal ossification of hand bones (HP:0005921)2.22851032
126Insulin-resistant diabetes mellitus (HP:0000831)2.21644196
127Neoplasm of the heart (HP:0100544)2.16014258
128Abnormality of the umbilical cord (HP:0010881)2.16000821
129Hypoplastic left heart (HP:0004383)2.15450038
130Abnormal drinking behavior (HP:0030082)2.14818759
131Polydipsia (HP:0001959)2.14818759
132Tetany (HP:0001281)2.13428500
133Abnormality of renal excretion (HP:0011036)2.12012223
134Absent radius (HP:0003974)2.11803435
135Broad toe (HP:0001837)2.10941655
136Ventricular tachycardia (HP:0004756)2.10472386
137Broad phalanges of the hand (HP:0009768)2.08192658
138Abnormality of the parietal bone (HP:0002696)2.07102484
139Atelectasis (HP:0100750)2.06147946
140Portal hypertension (HP:0001409)2.05386402
141Tubulointerstitial abnormality (HP:0001969)2.04889436
142Coronal craniosynostosis (HP:0004440)2.04835076
143Short tibia (HP:0005736)2.04776423
144Omphalocele (HP:0001539)2.04541510
145Abnormal ventriculo-arterial connection (HP:0011563)2.04201516
146Transposition of the great arteries (HP:0001669)2.04201516
147Abnormal connection of the cardiac segments (HP:0011545)2.04201516
148Polyuria (HP:0000103)2.02881709
149Tarsal synostosis (HP:0008368)2.02878089
150Premature rupture of membranes (HP:0001788)2.02569034
151Aplasia/Hypoplasia of the fibula (HP:0006492)2.01840245
152Aplasia involving forearm bones (HP:0009822)2.01386640
153Absent forearm bone (HP:0003953)2.01386640
154Bronchiectasis (HP:0002110)2.00990030
155Hyponatremia (HP:0002902)2.00485719
156Gastrointestinal atresia (HP:0002589)1.99662596
157Short thumb (HP:0009778)1.99202273
158Abnormal hand bone ossification (HP:0010660)1.98431084
159Broad finger (HP:0001500)1.98416694
160Disproportionate short-trunk short stature (HP:0003521)1.97770290
161Peripheral hypomyelination (HP:0007182)1.96841778
162Failure to thrive in infancy (HP:0001531)1.96732116
163Broad phalanx (HP:0006009)1.95040998
164Abnormality of the pubic bones (HP:0003172)1.94553310
165Abnormal foot bone ossification (HP:0010675)1.93948382
166Mixed hearing impairment (HP:0000410)1.93165979
167Hypoplastic heart (HP:0001961)1.92520813
168Broad long bones (HP:0005622)1.91826072
169Synostosis involving bones of the feet (HP:0009140)1.90678620
170Synostosis involving bones of the lower limbs (HP:0009138)1.90678620
171Ankyloglossia (HP:0010296)1.89790788
172Hyperthyroidism (HP:0000836)1.89225867
173Intellectual disability, moderate (HP:0002342)1.88859883
174Aplasia involving bones of the upper limbs (HP:0009823)1.88740789
175Aplasia of the phalanges of the hand (HP:0009802)1.88740789
176Aplasia involving bones of the extremities (HP:0009825)1.88740789
177Midline defect of the nose (HP:0004122)1.88651280
178Aplasia/Hypoplasia of the tibia (HP:0005772)1.87713534
179Abnormality of the hepatic vasculature (HP:0006707)1.85399341
180Occipital encephalocele (HP:0002085)1.83210893
181Aplasia/Hypoplasia of the sacrum (HP:0008517)1.81421245
182Epiphyseal dysplasia (HP:0002656)1.78977091
183Abnormality of dental color (HP:0011073)1.78271967
184Abnormality of the costochondral junction (HP:0000919)1.77354528
185Flattened epiphyses (HP:0003071)1.77012126
186Abnormality of the right ventricle (HP:0001707)1.76987497
187Atonic seizures (HP:0010819)1.76378424
1882-3 toe syndactyly (HP:0004691)1.73696385
189Radial bowing (HP:0002986)1.72878403
190Hemiparesis (HP:0001269)1.72816507
191Genetic anticipation (HP:0003743)1.72427618
192Fragile skin (HP:0001030)1.72277453
193Glycosuria (HP:0003076)1.71621531
194Abnormality of urine glucose concentration (HP:0011016)1.71621531
195Hypophosphatemic rickets (HP:0004912)1.70442393
196Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.69711826
197Absent epiphyses (HP:0010577)1.69711826
198Abnormality of the epiphysis of the femoral head (HP:0010574)1.68782393

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PLK46.98263116
2TESK15.94742167
3LATS15.31780978
4LATS23.58679229
5DDR23.39654380
6PNCK3.33513108
7PDGFRA3.24629718
8TNIK3.04507380
9INSRR3.04233461
10MAPK153.03346286
11EPHB22.87578476
12STK38L2.86792249
13FGFR22.85293899
14TESK22.72784263
15MKNK12.71560606
16MAP4K22.71207861
17PRKD32.26974164
18TTN2.04656682
19ERBB32.03252768
20MKNK21.95345686
21PTK61.89277421
22PBK1.74163561
23CSNK1A1L1.71127759
24ALK1.66593901
25SGK21.58642720
26MAP3K91.49764208
27SIK11.46114204
28CASK1.31713350
29PIK3CG1.30792983
30PRPF4B1.29656628
31SGK2231.27691505
32SGK4941.27691505
33SGK31.27161119
34PDK11.27144345
35PDPK11.25251945
36CDK71.24317679
37FGR1.21874375
38DYRK1B1.21616192
39SIK21.16210107
40FGFR11.12962460
41NEK61.10108572
42PAK41.09775673
43DYRK21.07559249
44BCR1.06794329
45MST1R1.06116255
46TAOK21.05866651
47ERBB21.04931195
48CDC42BPA1.01123871
49STK31.00616518
50DYRK31.00497716
51MAP3K40.99408156
52WNK10.99003180
53CSNK1G30.95967449
54MELK0.94059321
55TYRO30.93352137
56EPHA30.91239044
57PINK10.90044548
58PASK0.88725485
59PAK30.88585772
60CDC70.88319371
61CSNK1G10.87628053
62STK380.87309813
63ADRBK10.85249657
64BMX0.84767083
65CDK80.83948449
66KSR20.83063188
67CDK60.82677496
68MAP3K110.81198709
69PDGFRB0.80742960
70FER0.80427128
71CAMK1D0.78023579
72PAK20.77683443
73SRPK10.77381758
74PLK20.77075827
75PRKG10.77027200
76EIF2AK20.75912756
77PTK20.75695245
78RPS6KA40.74280756
79CLK10.73895910
80MARK10.72054456
81RPS6KA10.71037551
82STK390.71037276
83SGK10.69491653
84FRK0.68059540
85MAP3K80.68013985
86AKT30.67193582
87EPHA20.66848977
88PTK2B0.66673548
89RPS6KA20.66513983
90CDK190.66188434
91MAP3K100.66030857
92WNK40.63900169
93MAPK130.62832000
94CDK30.62522800
95EEF2K0.61452215
96HIPK20.60779211
97EPHA40.60406398
98BRAF0.59901204
99UHMK10.59092756
100CAMK1G0.58430578
101PRKCG0.57206214
102CSNK1G20.56784605
103ROCK10.54999568
104CDK120.54818796
105NTRK20.54781597
106BRD40.54622873
107ADRBK20.54018579
108PKN20.52987305
109AKT10.51836113
110GSK3B0.51647197
111CAMK10.51180862
112SIK30.49962456
113PRKCZ0.49780696
114PLK30.49661463
115LIMK10.49466416
116CDK40.49001098
117MAP3K120.47640557
118KSR10.46464908
119ATR0.46351402
120TGFBR10.44309434
121CDK20.44152380
122TRIB30.44143944
123FLT30.43482258
124BMPR1B0.42942109
125MINK10.42790934
126CDK10.42748062
127MAP2K70.42309746
128MTOR0.41481166
129CAMK40.39746840
130PRKG20.39363275
131MAPK10.38900446
132AKT20.38544538
133TTK0.37265370
134INSR0.36628458
135FGFR30.35789337
136PRKCH0.35512361
137FGFR40.35356090
138YES10.35132424
139OXSR10.34694851
140PRKAA20.34592095
141PKN10.33996688
142RPS6KC10.33977561
143RPS6KL10.33977561
144MAP3K20.33903968
145ROCK20.33679423
146RPS6KA60.33567087
147BCKDK0.33540031
148LMTK20.33096107
149MAPK80.33022532
150MAP3K10.32767107
151NTRK30.32302519
152MUSK0.32059988
153CDK50.31140017
154NLK0.30527451
155PRKCB0.30062156
156MAPK140.29376997
157ARAF0.26522610
158TLK10.23612027
159MAPK100.21183737
160DYRK1A0.20905688
161MAP2K20.20718382
162CAMK2A0.20684265
163MAPK90.18278876
164PRKACA0.17409212
165CDK11A0.16743449

Predicted pathways (KEGG)

RankGene SetZ-score
1Synthesis and degradation of ketone bodies_Homo sapiens_hsa000727.63546650
2Fatty acid biosynthesis_Homo sapiens_hsa000615.67718816
3Basal cell carcinoma_Homo sapiens_hsa052174.12582437
4Olfactory transduction_Homo sapiens_hsa047403.26014812
5Hippo signaling pathway_Homo sapiens_hsa043903.12952152
6Axon guidance_Homo sapiens_hsa043602.88373232
7Hedgehog signaling pathway_Homo sapiens_hsa043402.76355933
8Butanoate metabolism_Homo sapiens_hsa006502.44944052
9Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045502.37650224
10Wnt signaling pathway_Homo sapiens_hsa043102.30527185
11TGF-beta signaling pathway_Homo sapiens_hsa043502.16797685
12Cardiac muscle contraction_Homo sapiens_hsa042602.05170873
13Proteoglycans in cancer_Homo sapiens_hsa052052.02539322
14MicroRNAs in cancer_Homo sapiens_hsa052061.87775786
15Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.85599239
16Melanogenesis_Homo sapiens_hsa049161.80255186
17Type II diabetes mellitus_Homo sapiens_hsa049301.79014525
18Notch signaling pathway_Homo sapiens_hsa043301.76249243
19Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.72264516
20Glycerophospholipid metabolism_Homo sapiens_hsa005641.70094451
21Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.56405614
22ECM-receptor interaction_Homo sapiens_hsa045121.56154234
23Tight junction_Homo sapiens_hsa045301.53703278
24Adherens junction_Homo sapiens_hsa045201.51946586
25Focal adhesion_Homo sapiens_hsa045101.45257501
26Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.43542428
27Chronic myeloid leukemia_Homo sapiens_hsa052201.43238589
28Melanoma_Homo sapiens_hsa052181.41027715
29Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.33615986
30Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.32004756
31Colorectal cancer_Homo sapiens_hsa052101.31602605
32Pathways in cancer_Homo sapiens_hsa052001.28497185
33Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.27758209
34Prostate cancer_Homo sapiens_hsa052151.27124846
35Endometrial cancer_Homo sapiens_hsa052131.27025458
36Circadian entrainment_Homo sapiens_hsa047131.26339879
37Fatty acid metabolism_Homo sapiens_hsa012121.24461468
38Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.24352323
39Sulfur metabolism_Homo sapiens_hsa009201.22519329
40Rap1 signaling pathway_Homo sapiens_hsa040151.21666182
41Gap junction_Homo sapiens_hsa045401.17689990
42Type I diabetes mellitus_Homo sapiens_hsa049401.17512926
43Lysine degradation_Homo sapiens_hsa003101.17061474
44Autoimmune thyroid disease_Homo sapiens_hsa053201.13586158
45Allograft rejection_Homo sapiens_hsa053301.12932907
46GABAergic synapse_Homo sapiens_hsa047271.12797876
47Phenylalanine metabolism_Homo sapiens_hsa003601.10329244
48Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.09350920
49Transcriptional misregulation in cancer_Homo sapiens_hsa052021.09115274
50Salivary secretion_Homo sapiens_hsa049701.08661942
51Antigen processing and presentation_Homo sapiens_hsa046121.08537236
52Regulation of actin cytoskeleton_Homo sapiens_hsa048101.08483002
53Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.06697174
54Small cell lung cancer_Homo sapiens_hsa052221.06466110
55Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.05095035
56Synaptic vesicle cycle_Homo sapiens_hsa047211.04602411
57Non-small cell lung cancer_Homo sapiens_hsa052231.04228853
58Cocaine addiction_Homo sapiens_hsa050301.03161893
59Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.02775896
60Graft-versus-host disease_Homo sapiens_hsa053321.02287799
61Endocytosis_Homo sapiens_hsa041440.99957788
62Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.98617265
63Maturity onset diabetes of the young_Homo sapiens_hsa049500.98533418
64Fatty acid degradation_Homo sapiens_hsa000710.98172002
65Arginine and proline metabolism_Homo sapiens_hsa003300.97622694
66Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.96967720
67RNA transport_Homo sapiens_hsa030130.96425749
68HTLV-I infection_Homo sapiens_hsa051660.96344977
69AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.93197624
70Glioma_Homo sapiens_hsa052140.92859085
71ErbB signaling pathway_Homo sapiens_hsa040120.92376769
72Bladder cancer_Homo sapiens_hsa052190.90328436
73Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.90180427
74Huntingtons disease_Homo sapiens_hsa050160.88013269
75Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.87585407
76Insulin secretion_Homo sapiens_hsa049110.86987981
77Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.86886798
78Dorso-ventral axis formation_Homo sapiens_hsa043200.86256067
79Aldosterone synthesis and secretion_Homo sapiens_hsa049250.84759979
80Leukocyte transendothelial migration_Homo sapiens_hsa046700.83771820
81Protein digestion and absorption_Homo sapiens_hsa049740.83144831
82PI3K-Akt signaling pathway_Homo sapiens_hsa041510.82702886
83Cell cycle_Homo sapiens_hsa041100.82181043
84Phospholipase D signaling pathway_Homo sapiens_hsa040720.78566576
85Systemic lupus erythematosus_Homo sapiens_hsa053220.78270606
86Gastric acid secretion_Homo sapiens_hsa049710.76631510
87Amoebiasis_Homo sapiens_hsa051460.76605767
88Calcium signaling pathway_Homo sapiens_hsa040200.75668522
89Oocyte meiosis_Homo sapiens_hsa041140.75324739
90Basal transcription factors_Homo sapiens_hsa030220.74738128
91Glycosaminoglycan degradation_Homo sapiens_hsa005310.73845272
92Circadian rhythm_Homo sapiens_hsa047100.72083234
93Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.71633806
94Pancreatic cancer_Homo sapiens_hsa052120.71074037
95Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.70698272
96Ras signaling pathway_Homo sapiens_hsa040140.70308512
97Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.70187119
98Thyroid cancer_Homo sapiens_hsa052160.69978886
99Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.69834754
100Viral myocarditis_Homo sapiens_hsa054160.69111653
101Fat digestion and absorption_Homo sapiens_hsa049750.68448453
102Hepatitis B_Homo sapiens_hsa051610.68134698
103Other glycan degradation_Homo sapiens_hsa005110.67313669
104Alcoholism_Homo sapiens_hsa050340.66722747
105PPAR signaling pathway_Homo sapiens_hsa033200.66559803
106Ovarian steroidogenesis_Homo sapiens_hsa049130.66461906
107Dilated cardiomyopathy_Homo sapiens_hsa054140.65179075
108Carbohydrate digestion and absorption_Homo sapiens_hsa049730.64681605
109Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.64658041
110Renin secretion_Homo sapiens_hsa049240.64388610
111Malaria_Homo sapiens_hsa051440.64243058
112Renal cell carcinoma_Homo sapiens_hsa052110.63761109
113Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.63547971
114Adipocytokine signaling pathway_Homo sapiens_hsa049200.62542259
115Nicotine addiction_Homo sapiens_hsa050330.62377157
116Arginine biosynthesis_Homo sapiens_hsa002200.62236095
117Thyroid hormone signaling pathway_Homo sapiens_hsa049190.61988710
118Oxytocin signaling pathway_Homo sapiens_hsa049210.61597226
119Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.58615912
120Long-term depression_Homo sapiens_hsa047300.57667352
121MAPK signaling pathway_Homo sapiens_hsa040100.56769139
122Choline metabolism in cancer_Homo sapiens_hsa052310.56211235
123TNF signaling pathway_Homo sapiens_hsa046680.54046295
124Morphine addiction_Homo sapiens_hsa050320.53895847
125Taste transduction_Homo sapiens_hsa047420.53838477
126Glycerolipid metabolism_Homo sapiens_hsa005610.53769551
127Serotonergic synapse_Homo sapiens_hsa047260.53681612
128Prion diseases_Homo sapiens_hsa050200.53436658
129GnRH signaling pathway_Homo sapiens_hsa049120.52563713
130Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.51915584
131Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.51007030
132Phosphatidylinositol signaling system_Homo sapiens_hsa040700.50637000
133Bile secretion_Homo sapiens_hsa049760.50589274
134Renin-angiotensin system_Homo sapiens_hsa046140.50153013
135Tyrosine metabolism_Homo sapiens_hsa003500.50027585
136p53 signaling pathway_Homo sapiens_hsa041150.49395138
137Estrogen signaling pathway_Homo sapiens_hsa049150.48952829
138mRNA surveillance pathway_Homo sapiens_hsa030150.47901688
139Pancreatic secretion_Homo sapiens_hsa049720.46839860
140Glutamatergic synapse_Homo sapiens_hsa047240.46468887
141Viral carcinogenesis_Homo sapiens_hsa052030.46330061
142Spliceosome_Homo sapiens_hsa030400.46115496
143FoxO signaling pathway_Homo sapiens_hsa040680.44940204
144Inositol phosphate metabolism_Homo sapiens_hsa005620.44404343
145Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.44394648
146cAMP signaling pathway_Homo sapiens_hsa040240.44008815
147Vascular smooth muscle contraction_Homo sapiens_hsa042700.43986010
148Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.43791343
149Cholinergic synapse_Homo sapiens_hsa047250.43429009
150ABC transporters_Homo sapiens_hsa020100.43309674
151Retinol metabolism_Homo sapiens_hsa008300.40809963
152cGMP-PKG signaling pathway_Homo sapiens_hsa040220.40782860
153Amphetamine addiction_Homo sapiens_hsa050310.39797492
154Phototransduction_Homo sapiens_hsa047440.39176037
155Dopaminergic synapse_Homo sapiens_hsa047280.37046899
156Nitrogen metabolism_Homo sapiens_hsa009100.36829998
157Prolactin signaling pathway_Homo sapiens_hsa049170.36052582
158Acute myeloid leukemia_Homo sapiens_hsa052210.35613017
159Primary bile acid biosynthesis_Homo sapiens_hsa001200.32789187
160Influenza A_Homo sapiens_hsa051640.31656113
161Long-term potentiation_Homo sapiens_hsa047200.30854201
162Mineral absorption_Homo sapiens_hsa049780.27776491
163Steroid hormone biosynthesis_Homo sapiens_hsa001400.24578755
164Purine metabolism_Homo sapiens_hsa002300.23621475

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