NEDD4

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 the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation of a number of membrane receptors, endocytic machinery components and the tumor suppressor PTEN. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1paraxial mesoderm development (GO:0048339)4.93461122
2regulation of pigment cell differentiation (GO:0050932)4.75168568
3behavioral response to nicotine (GO:0035095)4.66258748
4positive regulation of developmental pigmentation (GO:0048087)4.59906243
5interkinetic nuclear migration (GO:0022027)4.53594690
6regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450914.41189267
7kynurenine metabolic process (GO:0070189)4.25389101
8snRNA transcription (GO:0009301)4.24530346
9tryptophan catabolic process (GO:0006569)4.23134278
10indole-containing compound catabolic process (GO:0042436)4.23134278
11indolalkylamine catabolic process (GO:0046218)4.23134278
12regulation of establishment of cell polarity (GO:2000114)4.17918100
13hippo signaling (GO:0035329)4.13584400
14establishment of protein localization to Golgi (GO:0072600)3.97087339
15negative regulation of protein localization to cell surface (GO:2000009)3.94032219
16protein K48-linked deubiquitination (GO:0071108)3.93171202
17planar cell polarity pathway involved in neural tube closure (GO:0090179)3.91439126
18endosome to melanosome transport (GO:0035646)3.88722321
19endosome to pigment granule transport (GO:0043485)3.88722321
20regulation of translation, ncRNA-mediated (GO:0045974)3.88410271
21negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.88410271
22negative regulation of translation, ncRNA-mediated (GO:0040033)3.88410271
23negative regulation of systemic arterial blood pressure (GO:0003085)3.84593693
24indolalkylamine metabolic process (GO:0006586)3.83963177
25pre-miRNA processing (GO:0031054)3.74926103
26regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.73666132
27oxidative demethylation (GO:0070989)3.71487633
28monoubiquitinated protein deubiquitination (GO:0035520)3.70449859
29regulation of establishment or maintenance of cell polarity (GO:0032878)3.69755906
30polarized epithelial cell differentiation (GO:0030859)3.67673994
31outer ear morphogenesis (GO:0042473)3.63179571
32tryptophan metabolic process (GO:0006568)3.57849187
33mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.55041787
34lipid translocation (GO:0034204)3.54474925
35phospholipid translocation (GO:0045332)3.54474925
36nuclear pore organization (GO:0006999)3.48736656
37nuclear pore complex assembly (GO:0051292)3.47748076
38DNA unwinding involved in DNA replication (GO:0006268)3.42907568
39negative regulation of DNA repair (GO:0045738)3.41994828
40flavonoid metabolic process (GO:0009812)3.41176157
41signal peptide processing (GO:0006465)3.37764156
42insulin-like growth factor receptor signaling pathway (GO:0048009)3.31647988
43mitotic sister chromatid cohesion (GO:0007064)3.31523688
44negative regulation of chondrocyte differentiation (GO:0032331)3.29345270
45chondrocyte proliferation (GO:0035988)3.29018077
46cytoplasmic mRNA processing body assembly (GO:0033962)3.24769284
47sulfation (GO:0051923)3.23491821
48neural tube formation (GO:0001841)3.20734179
49gamma-aminobutyric acid transport (GO:0015812)3.19111747
50gastrulation with mouth forming second (GO:0001702)3.18539657
51protein K63-linked deubiquitination (GO:0070536)3.18016671
52axon extension involved in axon guidance (GO:0048846)3.17074290
53neuron projection extension involved in neuron projection guidance (GO:1902284)3.17074290
54pericardium development (GO:0060039)3.16989224
55cardiovascular system development (GO:0072358)3.15006054
56notochord development (GO:0030903)3.13901701
57embryonic foregut morphogenesis (GO:0048617)3.10861103
58regulation of short-term neuronal synaptic plasticity (GO:0048172)3.08528934
59lateral sprouting from an epithelium (GO:0060601)3.08215094
60regulation of sarcomere organization (GO:0060297)3.06212027
61G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.05138163
62regulation of heart morphogenesis (GO:2000826)3.04858675
63synaptic vesicle docking involved in exocytosis (GO:0016081)3.02897707
64dorsal/ventral axis specification (GO:0009950)3.02303172
65body morphogenesis (GO:0010171)2.99597947
66bone trabecula formation (GO:0060346)2.99545996
67indole-containing compound metabolic process (GO:0042430)2.98723452
68establishment of apical/basal cell polarity (GO:0035089)2.98473885
69proximal/distal pattern formation (GO:0009954)2.97251315
70regulation of sister chromatid cohesion (GO:0007063)2.96028529
71epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.93671880
72L-fucose catabolic process (GO:0042355)2.92543011
73fucose catabolic process (GO:0019317)2.92543011
74L-fucose metabolic process (GO:0042354)2.92543011
75positive regulation of SMAD protein import into nucleus (GO:0060391)2.91761708
76protein K11-linked deubiquitination (GO:0035871)2.89634536
77serotonin metabolic process (GO:0042428)2.89341358
78protein heterotrimerization (GO:0070208)2.88555936
79detection of light stimulus involved in sensory perception (GO:0050962)2.88283116
80detection of light stimulus involved in visual perception (GO:0050908)2.88283116
81cilium or flagellum-dependent cell motility (GO:0001539)2.87879889
82reflex (GO:0060004)2.87480783
83striated muscle atrophy (GO:0014891)2.85505354
84heterochromatin organization (GO:0070828)2.85423166
85metanephric mesenchyme development (GO:0072075)2.85401234
86thyroid hormone metabolic process (GO:0042403)2.84978298
87collagen fibril organization (GO:0030199)2.84221311
88nucleus localization (GO:0051647)2.82450561
89regulation of SMAD protein import into nucleus (GO:0060390)2.81245149
90membrane depolarization during action potential (GO:0086010)2.80991849
91positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.80646387
92negative regulation of catenin import into nucleus (GO:0035414)2.78330790
93cerebellar Purkinje cell differentiation (GO:0021702)2.77740107
94appendage development (GO:0048736)2.76892908
95limb development (GO:0060173)2.76892908
96cellular response to ethanol (GO:0071361)2.76768644
97Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.76737585
98kidney mesenchyme development (GO:0072074)2.76484400
99midgut development (GO:0007494)2.75898437
100craniofacial suture morphogenesis (GO:0097094)2.75658957
101negative regulation of cartilage development (GO:0061037)2.75503763
102anterior/posterior axis specification, embryo (GO:0008595)2.73935489
103primary amino compound metabolic process (GO:1901160)2.73075240
104membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.73042069
105detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.72855215
106NAD biosynthetic process (GO:0009435)2.72274837
107neuronal action potential (GO:0019228)2.72175141
108embryonic skeletal joint morphogenesis (GO:0060272)2.72116970
109cell morphogenesis involved in neuron differentiation (GO:0048667)2.71058936
110regulation of establishment of planar polarity (GO:0090175)2.70906265
111positive regulation of fatty acid oxidation (GO:0046321)2.69992439
112establishment of monopolar cell polarity (GO:0061162)2.69087921
113establishment or maintenance of monopolar cell polarity (GO:0061339)2.69087921
114cellular ketone body metabolic process (GO:0046950)2.68912219
115ectodermal placode formation (GO:0060788)2.68772859
116regulation of RNA export from nucleus (GO:0046831)2.68497871
117positive regulation of CREB transcription factor activity (GO:0032793)2.67752051
118hindlimb morphogenesis (GO:0035137)2.67532696
119peptidyl-lysine dimethylation (GO:0018027)2.67453381
120mesenchymal cell proliferation (GO:0010463)2.66253759
121cochlea morphogenesis (GO:0090103)2.64815620
122lung-associated mesenchyme development (GO:0060484)2.64168250
123positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.63705991
124negative regulation of cytosolic calcium ion concentration (GO:0051481)2.61404061
125regulation of hippo signaling (GO:0035330)2.60148524
126convergent extension (GO:0060026)2.60121136
127non-canonical Wnt signaling pathway (GO:0035567)2.59623820
128organ induction (GO:0001759)2.59608288
129regulation of catenin import into nucleus (GO:0035412)2.59275461
130* mesenchyme development (GO:0060485)2.58414909
131regulation of transforming growth factor beta2 production (GO:0032909)2.57968166
132heart morphogenesis (GO:0003007)2.57308615
133regulation of gene silencing by RNA (GO:0060966)2.56927986
134regulation of posttranscriptional gene silencing (GO:0060147)2.56927986
135regulation of gene silencing by miRNA (GO:0060964)2.56927986
136embryonic cranial skeleton morphogenesis (GO:0048701)2.56157600
137regulation of mesoderm development (GO:2000380)2.56057680
138sister chromatid segregation (GO:0000819)2.55046696
139skeletal muscle adaptation (GO:0043501)2.54429050
140regulation of cell fate specification (GO:0042659)2.54022991
141protein localization to kinetochore (GO:0034501)2.53261393
142histone-serine phosphorylation (GO:0035404)2.52762172
143regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.52573547
144establishment of nucleus localization (GO:0040023)2.51711008
145peristalsis (GO:0030432)2.51621971
146spinal cord motor neuron differentiation (GO:0021522)2.51254960
147establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)2.50984443
148negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.50643140
149positive regulation of hormone biosynthetic process (GO:0046886)2.50112308
150atrial cardiac muscle cell action potential (GO:0086014)2.49623185
151response to pheromone (GO:0019236)2.49224853
152regulation of cardioblast proliferation (GO:0003264)2.49130532
153regulation of secondary heart field cardioblast proliferation (GO:0003266)2.49130532
154regulation of respiratory system process (GO:0044065)2.49066183
155positive regulation of sodium ion transmembrane transport (GO:1902307)2.47950420
156embryonic hindlimb morphogenesis (GO:0035116)2.47626345
157organ formation (GO:0048645)2.47448061
158positive regulation of mesenchymal cell proliferation (GO:0002053)2.46258985
159regulation of mitotic spindle organization (GO:0060236)2.45664988
160behavioral response to ethanol (GO:0048149)2.45360895
161regulation of developmental pigmentation (GO:0048070)2.45188391
162regulation of nephron tubule epithelial cell differentiation (GO:0072182)2.45034555
163anatomical structure regression (GO:0060033)2.44887382
164sequestering of extracellular ligand from receptor (GO:0035581)2.44584621
165head development (GO:0060322)2.44507648
166positive regulation of catenin import into nucleus (GO:0035413)2.44043699
167neuron maturation (GO:0042551)2.43818477
168regulation of cell proliferation involved in heart morphogenesis (GO:2000136)2.43724299
169cellular response to sterol (GO:0036315)2.43409535
170photoreceptor cell maintenance (GO:0045494)2.43332020
171NLS-bearing protein import into nucleus (GO:0006607)2.43008826
172plasma membrane repair (GO:0001778)2.42048799
173regulation of stem cell maintenance (GO:2000036)2.41817855
174drug catabolic process (GO:0042737)2.41798609
175positive regulation of epithelial to mesenchymal transition (GO:0010718)2.41031993
176negative regulation of cell fate specification (GO:0009996)2.40980327
177chondrocyte development (GO:0002063)2.40880476
178positive regulation of fatty acid beta-oxidation (GO:0032000)2.40403026
179protein targeting to Golgi (GO:0000042)2.38888426
180regulation of spindle organization (GO:0090224)2.38691543
181kidney morphogenesis (GO:0060993)2.38535728
182rRNA catabolic process (GO:0016075)2.38136690
183negative regulation of embryonic development (GO:0045992)2.37783422
184regulation of action potential (GO:0098900)2.37457030
185histone H3-K4 trimethylation (GO:0080182)2.37298748
186adherens junction assembly (GO:0034333)2.35981823
187endoderm formation (GO:0001706)2.35649151
188cell proliferation involved in metanephros development (GO:0072203)2.35543613
189central nervous system neuron axonogenesis (GO:0021955)2.35532698
190amine catabolic process (GO:0009310)2.34884777
191cellular biogenic amine catabolic process (GO:0042402)2.34884777
192negative regulation of mast cell activation (GO:0033004)2.34853364
193retrograde transport, vesicle recycling within Golgi (GO:0000301)2.34736848
194peptidyl-arginine omega-N-methylation (GO:0035247)2.34511876
195DNA replication-dependent nucleosome assembly (GO:0006335)2.34176758
196DNA replication-dependent nucleosome organization (GO:0034723)2.34176758

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.02843951
2FOXM1_23109430_ChIP-Seq_U2OS_Human4.29242615
3RBPJ_22232070_ChIP-Seq_NCS_Mouse3.80603827
4SALL1_21062744_ChIP-ChIP_HESCs_Human3.77750988
5EZH2_22144423_ChIP-Seq_EOC_Human3.70881780
6GBX2_23144817_ChIP-Seq_PC3_Human3.35568190
7EGR1_19374776_ChIP-ChIP_THP-1_Human3.22663450
8HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.01005129
9* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.83617267
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.75207061
11VDR_22108803_ChIP-Seq_LS180_Human2.75065664
12ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.68996304
13HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse2.63713271
14NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.49857202
15ZFP57_27257070_Chip-Seq_ESCs_Mouse2.46015920
16* E2F4_17652178_ChIP-ChIP_JURKAT_Human2.32866749
17TP63_19390658_ChIP-ChIP_HaCaT_Human2.30823190
18CLOCK_20551151_ChIP-Seq_293T_Human2.30168332
19TP63_17297297_ChIP-ChIP_HaCaT_Human2.26123246
20AR_21909140_ChIP-Seq_LNCAP_Human2.25076682
21SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.20964091
22CTBP2_25329375_ChIP-Seq_LNCAP_Human2.19945467
23EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.19431850
24RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.17951892
25* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.15961603
26TAF15_26573619_Chip-Seq_HEK293_Human2.15115855
27POU3F2_20337985_ChIP-ChIP_501MEL_Human2.12917309
28SALL4_18804426_ChIP-ChIP_MESCs_Mouse2.12487899
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.09446883
30PIAS1_25552417_ChIP-Seq_VCAP_Human2.07984722
31TP53_16413492_ChIP-PET_HCT116_Human2.05962377
32* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.05419129
33TCF3_18467660_ChIP-ChIP_MESCs_Mouse2.01140041
34NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.00649663
35TRIM28_21343339_ChIP-Seq_HEK293_Human1.97184596
36* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.97134696
37ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.96508570
38WT1_19549856_ChIP-ChIP_CCG9911_Human1.96117775
39STAT3_23295773_ChIP-Seq_U87_Human1.94404267
40* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.90133039
41AR_21572438_ChIP-Seq_LNCaP_Human1.89168005
42FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.87827578
43ESR1_15608294_ChIP-ChIP_MCF-7_Human1.85704672
44ER_23166858_ChIP-Seq_MCF-7_Human1.84228960
45P300_19829295_ChIP-Seq_ESCs_Human1.81967096
46PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.81288399
47SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.81144900
48IGF1R_20145208_ChIP-Seq_DFB_Human1.79650480
49SMAD4_21799915_ChIP-Seq_A2780_Human1.78924434
50CTBP1_25329375_ChIP-Seq_LNCAP_Human1.77821433
51FUS_26573619_Chip-Seq_HEK293_Human1.77646803
52ZFP281_27345836_Chip-Seq_ESCs_Mouse1.76349196
53EWS_26573619_Chip-Seq_HEK293_Human1.73962163
54STAT6_21828071_ChIP-Seq_BEAS2B_Human1.71653202
55ISL1_27105846_Chip-Seq_CPCs_Mouse1.71451239
56FLI1_27457419_Chip-Seq_LIVER_Mouse1.68700312
57NR3C1_21868756_ChIP-Seq_MCF10A_Human1.66748244
58* FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.66094186
59* TCF4_23295773_ChIP-Seq_U87_Human1.64178907
60DROSHA_22980978_ChIP-Seq_HELA_Human1.63749081
61* SOX2_18555785_ChIP-Seq_MESCs_Mouse1.63183227
62MYC_18555785_ChIP-Seq_MESCs_Mouse1.61154324
63AHR_22903824_ChIP-Seq_MCF-7_Human1.59164721
64ZNF217_24962896_ChIP-Seq_MCF-7_Human1.57336256
65POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.56035879
66HIF1A_21447827_ChIP-Seq_MCF-7_Human1.55568657
67PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.55341807
68RARG_19884340_ChIP-ChIP_MEFs_Mouse1.54002836
69UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.52840527
70* TCF3_18692474_ChIP-Seq_MEFs_Mouse1.52206008
71ARNT_22903824_ChIP-Seq_MCF-7_Human1.51762700
72KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.51744987
73KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.51744987
74KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.51744987
75POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.51394305
76TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.51394305
77MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.48863696
78SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.48051198
79E2F1_21310950_ChIP-Seq_MCF-7_Human1.47943545
80AR_25329375_ChIP-Seq_VCAP_Human1.47391911
81BRD4_25478319_ChIP-Seq_HGPS_Human1.46935661
82SMAD3_21741376_ChIP-Seq_EPCs_Human1.46170548
83TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.45975855
84SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.45115320
85GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.42961373
86CDX2_19796622_ChIP-Seq_MESCs_Mouse1.42517093
87BCAT_22108803_ChIP-Seq_LS180_Human1.41201230
88PCGF2_27294783_Chip-Seq_ESCs_Mouse1.41096855
89CBX2_27304074_Chip-Seq_ESCs_Mouse1.40905268
90CBP_20019798_ChIP-Seq_JUKART_Human1.39001506
91IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.39001506
92RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.37548936
93NANOG_21062744_ChIP-ChIP_HESCs_Human1.37261408
94PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.36760895
95TOP2B_26459242_ChIP-Seq_MCF-7_Human1.36595317
96SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.35031034
97SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.33832043
98BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.33391258
99TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.33096915
100NANOG_16153702_ChIP-ChIP_HESCs_Human1.31412349
101REST_21632747_ChIP-Seq_MESCs_Mouse1.31100942
102* MYC_19079543_ChIP-ChIP_MESCs_Mouse1.30970114
103POU5F1_16153702_ChIP-ChIP_HESCs_Human1.28953482
104SOX2_16153702_ChIP-ChIP_HESCs_Human1.28832568
105NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.28203012
106FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.27899854
107PCGF2_27294783_Chip-Seq_NPCs_Mouse1.27742578
108RUNX2_22187159_ChIP-Seq_PCA_Human1.27255127
109NELFA_20434984_ChIP-Seq_ESCs_Mouse1.27231081
110KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.27026349
111ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.26293736
112PRDM14_20953172_ChIP-Seq_ESCs_Human1.25885444
113* TCF3_18692474_ChIP-Seq_MESCs_Mouse1.25817707
114EP300_21415370_ChIP-Seq_HL-1_Mouse1.25797877
115OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25519231
116BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.25230847
117CHD1_26751641_Chip-Seq_LNCaP_Human1.24089943
118JARID2_20064375_ChIP-Seq_MESCs_Mouse1.23716125
119BMI1_23680149_ChIP-Seq_NPCS_Mouse1.23330541
120CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.22397409
121TCF4_22108803_ChIP-Seq_LS180_Human1.21709862
122RXR_22108803_ChIP-Seq_LS180_Human1.21143261
123P300_27058665_Chip-Seq_ZR-75-30cells_Human1.20230059
124* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20092561
125POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.19605950
126TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.19105281
127CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.18768509
128FLI1_21867929_ChIP-Seq_TH2_Mouse1.18521737
129FOXM1_26456572_ChIP-Seq_MCF-7_Human1.18087883
130KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.17930960
131EZH2_27304074_Chip-Seq_ESCs_Mouse1.17753274
132TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17016398
133CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.16782278
134* SOX2_21211035_ChIP-Seq_LN229_Gbm1.16329351
135KDM2B_26808549_Chip-Seq_REH_Human1.15624959
136RNF2_27304074_Chip-Seq_NSC_Mouse1.15401796
137TP53_20018659_ChIP-ChIP_R1E_Mouse1.15386424
138SUZ12_27294783_Chip-Seq_NPCs_Mouse1.14709496
139EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.13111544
140* EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.11695648
141* SMAD4_21741376_ChIP-Seq_EPCs_Human1.11077209
142SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.10951399
143* CJUN_26792858_Chip-Seq_BT549_Human1.10060435
144CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.09445630
145JARID2_20075857_ChIP-Seq_MESCs_Mouse1.09247088
146TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.09240846
147NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.09095928
148NRF2_20460467_ChIP-Seq_MEFs_Mouse1.09095928
149EED_16625203_ChIP-ChIP_MESCs_Mouse1.08678578
150CTNNB1_20460455_ChIP-Seq_HCT116_Human1.08674094
151* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.07426593
152SMAD3_21741376_ChIP-Seq_ESCs_Human1.07194266
153* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.07036016
154* AR_19668381_ChIP-Seq_PC3_Human1.06880361
155SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.06832648
156ZFX_18555785_ChIP-Seq_MESCs_Mouse1.05808766
157TBX3_20139965_ChIP-Seq_ESCs_Mouse1.05443846
158SMAD_19615063_ChIP-ChIP_OVARY_Human1.05374234
159EZH2_27294783_Chip-Seq_NPCs_Mouse1.05354731
160RNF2_27304074_Chip-Seq_ESCs_Mouse1.05192698
161EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.04791687
162TBX3_20139965_ChIP-Seq_MESCs_Mouse1.04524195
163NANOG_18555785_Chip-Seq_ESCs_Mouse1.04301422
164NFIB_24661679_ChIP-Seq_LUNG_Mouse1.04046424
165MYC_22102868_ChIP-Seq_BL_Human1.03969903
166SALL4_18804426_ChIP-ChIP_XEN_Mouse1.03831554
167ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.03815214
168* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.03725793
169IRF1_19129219_ChIP-ChIP_H3396_Human1.03491451
170TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.02938007
171TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02914358
172STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.02651557
173RING1B_27294783_Chip-Seq_NPCs_Mouse1.02649174
174RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.99862831
175SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.99030533
176* PKCTHETA_26484144_Chip-Seq_BREAST_Human0.98782233
177CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.97947956
178POU5F1_16518401_ChIP-PET_MESCs_Mouse0.97571326
179YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.97285814
180ZNF274_21170338_ChIP-Seq_K562_Hela0.95905073
181UBF1/2_26484160_Chip-Seq_HMECs_Human0.94607702
182MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.93392178
183SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.92413557
184* EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.91483765
185NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.91197839
186TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.90743127
187TCF4_18268006_ChIP-ChIP_LS174T_Human0.90495492
188EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.90442294
189STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.89838464
190* MYC_19030024_ChIP-ChIP_MESCs_Mouse0.88969338
191ZNF263_19887448_ChIP-Seq_K562_Human0.88662600
192MYCN_18555785_ChIP-Seq_MESCs_Mouse0.88015554
193ESR1_20079471_ChIP-ChIP_T-47D_Human0.87364345
194* SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.86849162

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue4.14155193
2MP0008057_abnormal_DNA_replication3.28457600
3MP0010030_abnormal_orbit_morphology3.21660365
4MP0003195_calcinosis3.10280519
5MP0008438_abnormal_cutaneous_collagen3.08190868
6MP0000537_abnormal_urethra_morphology3.08106486
7MP0003705_abnormal_hypodermis_morpholog3.04271435
8MP0003123_paternal_imprinting2.84997173
9MP0009053_abnormal_anal_canal2.81022443
10MP0004043_abnormal_pH_regulation2.74856742
11MP0005503_abnormal_tendon_morphology2.54421334
12MP0003122_maternal_imprinting2.45030599
13MP0004130_abnormal_muscle_cell2.40914330
14MP0009046_muscle_twitch2.34785453
15MP0004145_abnormal_muscle_electrophysio2.34494677
16MP0003385_abnormal_body_wall2.30678150
17MP0000427_abnormal_hair_cycle2.28046816
18MP0005623_abnormal_meninges_morphology2.23617665
19MP0003121_genomic_imprinting2.19357282
20MP0004272_abnormal_basement_membrane2.18752370
21MP0004142_abnormal_muscle_tone2.11718143
22MP0005551_abnormal_eye_electrophysiolog2.11214839
23MP0003136_yellow_coat_color2.06099042
24MP0008961_abnormal_basal_metabolism2.04323374
25MP0003942_abnormal_urinary_system2.02676701
26MP0000383_abnormal_hair_follicle1.96142666
27MP0003937_abnormal_limbs/digits/tail_de1.94286587
28MP0005275_abnormal_skin_tensile1.90382034
29MP0001968_abnormal_touch/_nociception1.88491943
30MP0010352_gastrointestinal_tract_polyps1.86132061
31MP0009250_abnormal_appendicular_skeleto1.85067530
32MP0000534_abnormal_ureter_morphology1.84180289
33MP0005076_abnormal_cell_differentiation1.79172679
34MP0003283_abnormal_digestive_organ1.76912841
35MP0000428_abnormal_craniofacial_morphol1.73993006
36MP0000733_abnormal_muscle_development1.72551283
37MP0001501_abnormal_sleep_pattern1.70992378
38MP0003115_abnormal_respiratory_system1.70269331
39MP0003787_abnormal_imprinting1.68972154
40MP0003950_abnormal_plasma_membrane1.67052721
41MP0006054_spinal_hemorrhage1.66830198
42MP0002282_abnormal_trachea_morphology1.63889483
43MP0003941_abnormal_skin_development1.62847818
44MP0002938_white_spotting1.62744577
45MP0003119_abnormal_digestive_system1.62375160
46MP0005174_abnormal_tail_pigmentation1.62047308
47MP0000049_abnormal_middle_ear1.61122166
48MP0005248_abnormal_Harderian_gland1.60906971
49MP0005187_abnormal_penis_morphology1.60185341
50MP0002249_abnormal_larynx_morphology1.59239129
51MP0003935_abnormal_craniofacial_develop1.59075418
52MP0002932_abnormal_joint_morphology1.58903873
53MP0009745_abnormal_behavioral_response1.57997599
54MP0002735_abnormal_chemical_nociception1.56663333
55MP0002837_dystrophic_cardiac_calcinosis1.56033551
56MP0004233_abnormal_muscle_weight1.55981155
57MP0003045_fibrosis1.55378204
58MP0003755_abnormal_palate_morphology1.54436656
59* MP0004197_abnormal_fetal_growth/weight/1.52415428
60MP0002084_abnormal_developmental_patter1.50838312
61MP0000516_abnormal_urinary_system1.50133757
62MP0005367_renal/urinary_system_phenotyp1.50133757
63MP0001293_anophthalmia1.49102613
64MP0003567_abnormal_fetal_cardiomyocyte1.48762238
65MP0010386_abnormal_urinary_bladder1.46186306
66MP0004924_abnormal_behavior1.42371022
67MP0005386_behavior/neurological_phenoty1.42371022
68MP0010234_abnormal_vibrissa_follicle1.41353324
69MP0005508_abnormal_skeleton_morphology1.41220200
70MP0002928_abnormal_bile_duct1.40902706
71MP0005646_abnormal_pituitary_gland1.40092499
72MP0001299_abnormal_eye_distance/1.39573452
73MP0002272_abnormal_nervous_system1.39337957
74MP0002085_abnormal_embryonic_tissue1.39044698
75MP0006276_abnormal_autonomic_nervous1.37901900
76MP0008877_abnormal_DNA_methylation1.37813220
77MP0000778_abnormal_nervous_system1.36288976
78MP0002233_abnormal_nose_morphology1.34673114
79MP0002736_abnormal_nociception_after1.33579086
80MP0009384_cardiac_valve_regurgitation1.31901139
81MP0008872_abnormal_physiological_respon1.31072341
82MP0001849_ear_inflammation1.30916946
83MP0002067_abnormal_sensory_capabilities1.28732948
84MP0001486_abnormal_startle_reflex1.27855911
85MP0003279_aneurysm1.27693142
86MP0002697_abnormal_eye_size1.27295867
87MP0002116_abnormal_craniofacial_bone1.25511906
88MP0005266_abnormal_metabolism1.25213441
89MP0004147_increased_porphyrin_level1.23787010
90MP0002111_abnormal_tail_morphology1.23619373
91MP0000538_abnormal_urinary_bladder1.23558471
92MP0000432_abnormal_head_morphology1.23267040
93MP0002557_abnormal_social/conspecific_i1.22539150
94MP0001485_abnormal_pinna_reflex1.22444477
95MP0002572_abnormal_emotion/affect_behav1.21990885
96MP0002064_seizures1.21953742
97MP0003890_abnormal_embryonic-extraembry1.19456026
98MP0001986_abnormal_taste_sensitivity1.19400388
99MP0001672_abnormal_embryogenesis/_devel1.19335482
100MP0005380_embryogenesis_phenotype1.19335482
101MP0002876_abnormal_thyroid_physiology1.19074458
102MP0005423_abnormal_somatic_nervous1.17815075
103MP0000631_abnormal_neuroendocrine_gland1.16097931
104MP0009703_decreased_birth_body1.15935848
105MP0001730_embryonic_growth_arrest1.14099063
106MP0002088_abnormal_embryonic_growth/wei1.13519862
107MP0002168_other_aberrant_phenotype1.13217741
108MP0003984_embryonic_growth_retardation1.12410658
109MP0001697_abnormal_embryo_size1.12244498
110MP0002184_abnormal_innervation1.12210670
111MP0000569_abnormal_digit_pigmentation1.11820270
112MP0002108_abnormal_muscle_morphology1.11411146
113MP0002896_abnormal_bone_mineralization1.11269328
114MP0002734_abnormal_mechanical_nocicepti1.11079276
115MP0000230_abnormal_systemic_arterial1.10933121
116MP0001970_abnormal_pain_threshold1.10890972
117MP0002092_abnormal_eye_morphology1.10384228
118MP0002109_abnormal_limb_morphology1.09878113
119* MP0003635_abnormal_synaptic_transmissio1.09855575
120MP0008007_abnormal_cellular_replicative1.09092744
121MP0004133_heterotaxia1.08753486
122MP0005171_absent_coat_pigmentation1.08357887
123MP0002102_abnormal_ear_morphology1.08309996
124MP0002063_abnormal_learning/memory/cond1.07815231
125MP0002733_abnormal_thermal_nociception1.07805348
126MP0002653_abnormal_ependyma_morphology1.07318398
127MP0002086_abnormal_extraembryonic_tissu1.07206643
128MP0002114_abnormal_axial_skeleton1.06636746
129MP0003566_abnormal_cell_adhesion1.06582589
130MP0000350_abnormal_cell_proliferation1.04423807
131MP0009672_abnormal_birth_weight1.02874622
132MP0002925_abnormal_cardiovascular_devel1.02648815
133MP0003111_abnormal_nucleus_morphology1.02283484
134MP0002234_abnormal_pharynx_morphology1.02224137
135MP0004957_abnormal_blastocyst_morpholog1.01966393
136MP0000163_abnormal_cartilage_morphology1.01815899
137MP0003252_abnormal_bile_duct1.01695644
138MP0000762_abnormal_tongue_morphology1.01642391
139MP0001286_abnormal_eye_development1.01387323
140MP0005253_abnormal_eye_physiology1.01316685
141MP0004215_abnormal_myocardial_fiber1.00506431
142MP0003077_abnormal_cell_cycle0.99153633
143MP0001958_emphysema0.99043571
144MP0005448_abnormal_energy_balance0.98984439
145MP0003861_abnormal_nervous_system0.98560498
146MP0010368_abnormal_lymphatic_system0.98110395
147MP0010094_abnormal_chromosome_stability0.97603953
148MP0008775_abnormal_heart_ventricle0.97325183
149MP0002638_abnormal_pupillary_reflex0.95715746
150MP0003315_abnormal_perineum_morphology0.95685328
151MP0002115_abnormal_skeleton_extremities0.95543713
152MP0002160_abnormal_reproductive_system0.94988035
153MP0005195_abnormal_posterior_eye0.94626185
154MP0003137_abnormal_impulse_conducting0.94613224
155MP0000566_synostosis0.94613101
156MP0005670_abnormal_white_adipose0.93856177
157MP0006292_abnormal_olfactory_placode0.93295266
158MP0002138_abnormal_hepatobiliary_system0.93096888
159MP0000955_abnormal_spinal_cord0.92732638
160MP0003879_abnormal_hair_cell0.91219041
161MP0008932_abnormal_embryonic_tissue0.90047995
162MP0002332_abnormal_exercise_endurance0.89676107
163MP0005645_abnormal_hypothalamus_physiol0.85412641
164MP0010678_abnormal_skin_adnexa0.85216414
165MP0001324_abnormal_eye_pigmentation0.84949627
166MP0004134_abnormal_chest_morphology0.84936771
167MP0001440_abnormal_grooming_behavior0.84828272
168MP0005023_abnormal_wound_healing0.84695004
169MP0009115_abnormal_fat_cell0.84462828
170MP0002752_abnormal_somatic_nervous0.83583805
171MP0000470_abnormal_stomach_morphology0.83424455
172* MP0002080_prenatal_lethality0.83388237
173MP0005085_abnormal_gallbladder_physiolo0.82149249
174MP0002095_abnormal_skin_pigmentation0.81584836
175MP0002089_abnormal_postnatal_growth/wei0.80301460
176MP0002177_abnormal_outer_ear0.80246101
177* MP0002081_perinatal_lethality0.79891135
178MP0002113_abnormal_skeleton_development0.79363673
179MP0000767_abnormal_smooth_muscle0.78803188
180MP0000266_abnormal_heart_morphology0.78646452
181* MP0002882_abnormal_neuron_morphology0.78596628
182MP0003959_abnormal_lean_body0.78268199
183MP0004084_abnormal_cardiac_muscle0.78151095
184MP0009780_abnormal_chondrocyte_physiolo0.78106434
185MP0005167_abnormal_blood-brain_barrier0.77831827
186MP0005620_abnormal_muscle_contractility0.77666118
187MP0004085_abnormal_heartbeat0.77565161
188MP0001984_abnormal_olfaction0.77368299
189MP0003632_abnormal_nervous_system0.71993264
190MP0004885_abnormal_endolymph0.71241834
191MP0005389_reproductive_system_phenotype0.70455451

Predicted human phenotypes

RankGene SetZ-score
1Genetic anticipation (HP:0003743)5.40512842
2Hyperventilation (HP:0002883)4.74628706
3Protruding tongue (HP:0010808)4.58481746
4Pancreatic cysts (HP:0001737)4.53134050
5Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)4.32547523
6Short 4th metacarpal (HP:0010044)4.32547523
7Pancreatic fibrosis (HP:0100732)4.13368207
8Progressive cerebellar ataxia (HP:0002073)4.10913432
9Protrusio acetabuli (HP:0003179)3.87212605
10True hermaphroditism (HP:0010459)3.81345421
11Abnormality of the 4th metacarpal (HP:0010012)3.71919373
12Shallow orbits (HP:0000586)3.66730143
13Gaze-evoked nystagmus (HP:0000640)3.52699962
14Abnormality of midbrain morphology (HP:0002418)3.42507287
15Molar tooth sign on MRI (HP:0002419)3.42507287
16Aplasia/Hypoplasia of the tibia (HP:0005772)3.38581494
17Clumsiness (HP:0002312)3.35016671
18Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.33529251
19Nephronophthisis (HP:0000090)3.28701101
20Congenital stationary night blindness (HP:0007642)3.16646880
21Renal duplication (HP:0000075)3.15112520
22Cystic liver disease (HP:0006706)3.14019284
23Fair hair (HP:0002286)3.09156443
24Abnormality of the renal medulla (HP:0100957)3.06856309
25Abnormality of the renal cortex (HP:0011035)3.06607422
26Ankle contracture (HP:0006466)3.06420235
27Patellar aplasia (HP:0006443)3.04268042
28Chronic hepatic failure (HP:0100626)3.02177637
29Tubular atrophy (HP:0000092)2.96249354
30Birth length less than 3rd percentile (HP:0003561)2.88651599
31Aplasia/Hypoplasia of the patella (HP:0006498)2.79807415
32Premature rupture of membranes (HP:0001788)2.74563250
33Abnormality of the ischium (HP:0003174)2.73125081
34Medial flaring of the eyebrow (HP:0010747)2.69203872
35Broad-based gait (HP:0002136)2.63393496
36Aplasia/Hypoplasia of the tongue (HP:0010295)2.57971698
37Bladder diverticulum (HP:0000015)2.54196676
38Gait imbalance (HP:0002141)2.50835197
39Preaxial foot polydactyly (HP:0001841)2.49479356
40Broad metatarsal (HP:0001783)2.47099928
41Furrowed tongue (HP:0000221)2.41525820
42Increased neuronal autofluorescent lipopigment (HP:0002074)2.40915148
43Broad thumb (HP:0011304)2.39438993
44Abnormality of alanine metabolism (HP:0010916)2.38389923
45Hyperalaninemia (HP:0003348)2.38389923
46Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.38389923
47Attenuation of retinal blood vessels (HP:0007843)2.37962730
48Mesomelia (HP:0003027)2.37949363
49Poor coordination (HP:0002370)2.36789011
50Inability to walk (HP:0002540)2.36754741
51Type II lissencephaly (HP:0007260)2.35379928
52Febrile seizures (HP:0002373)2.34851253
53Chorioretinal atrophy (HP:0000533)2.34831528
54Congenital primary aphakia (HP:0007707)2.34614017
55Generalized hypopigmentation of hair (HP:0011358)2.34613373
56Cerebral aneurysm (HP:0004944)2.34228552
57Cerebellar dysplasia (HP:0007033)2.33182941
58Lissencephaly (HP:0001339)2.30012259
59Dysmetric saccades (HP:0000641)2.29969427
60Abnormality of the labia majora (HP:0012881)2.28937263
61Decreased circulating renin level (HP:0003351)2.28226711
62Selective tooth agenesis (HP:0001592)2.27323130
63Bowel diverticulosis (HP:0005222)2.26019449
64Hepatoblastoma (HP:0002884)2.24180335
65Aortic aneurysm (HP:0004942)2.23743170
66Genital tract atresia (HP:0001827)2.23187230
67Vaginal atresia (HP:0000148)2.21501484
68Congenital hepatic fibrosis (HP:0002612)2.21025665
69Asymmetry of the thorax (HP:0001555)2.19608559
70Subacute progressive viral hepatitis (HP:0006572)2.17917455
71Deviation of the hallux (HP:0010051)2.17573629
72Large for gestational age (HP:0001520)2.16283036
73Colon cancer (HP:0003003)2.14405445
74Nephrogenic diabetes insipidus (HP:0009806)2.14087967
75Broad long bones (HP:0005622)2.13186616
76Absent speech (HP:0001344)2.13073853
77Renovascular hypertension (HP:0100817)2.13051668
78Increased nuchal translucency (HP:0010880)2.12007791
79Sclerocornea (HP:0000647)2.11152504
80Broad phalanges of the hand (HP:0009768)2.10886665
81Aortic dissection (HP:0002647)2.08783316
82Progressive inability to walk (HP:0002505)2.08619607
83Drooling (HP:0002307)2.08203224
84Broad phalanx (HP:0006009)2.08020738
85Anencephaly (HP:0002323)2.07327981
86Widely spaced teeth (HP:0000687)2.07023283
87Wrist flexion contracture (HP:0001239)2.06833578
88Broad finger (HP:0001500)2.06629043
89Hyperacusis (HP:0010780)2.05737153
90Short foot (HP:0001773)2.04982403
91Buphthalmos (HP:0000557)2.04456154
92Coronal craniosynostosis (HP:0004440)2.03228705
93Hallux valgus (HP:0001822)2.02240307
94Spinal cord lesions (HP:0100561)2.02137729
95Syringomyelia (HP:0003396)2.02137729
96Midline defect of the nose (HP:0004122)2.00217346
97Abnormality of the nasal septum (HP:0000419)2.00067979
98Lymphangioma (HP:0100764)1.99774341
99Mitral valve prolapse (HP:0001634)1.99607443
100Short 5th finger (HP:0009237)1.99538404
101Macroglossia (HP:0000158)1.98739259
102Trigonocephaly (HP:0000243)1.98683074
103Abnormality of the astrocytes (HP:0100707)1.98030250
104Astrocytoma (HP:0009592)1.98030250
105Rectal prolapse (HP:0002035)1.96865042
106Deviation of the thumb (HP:0009603)1.96264682
107Neonatal short-limb short stature (HP:0008921)1.95558048
108Dilatation of the ascending aorta (HP:0005111)1.95172359
109Abnormality of the distal phalanx of the thumb (HP:0009617)1.94601582
110Cutaneous finger syndactyly (HP:0010554)1.93897606
111Soft skin (HP:0000977)1.93438511
112Preaxial hand polydactyly (HP:0001177)1.93346288
113Abnormal drinking behavior (HP:0030082)1.91771336
114Polydipsia (HP:0001959)1.91771336
115Bulbous nose (HP:0000414)1.91133573
116Breast hypoplasia (HP:0003187)1.90209063
117Broad toe (HP:0001837)1.89379582
118Focal seizures (HP:0007359)1.89258048
119Highly arched eyebrow (HP:0002553)1.88204293
120Abnormality of dentin (HP:0010299)1.87638221
121Flat cornea (HP:0007720)1.87402437
122Bony spicule pigmentary retinopathy (HP:0007737)1.85998902
123Urinary bladder sphincter dysfunction (HP:0002839)1.85888442
124Atrophic scars (HP:0001075)1.85382701
125Short chin (HP:0000331)1.85322793
126Truncal obesity (HP:0001956)1.84342916
127Ependymoma (HP:0002888)1.83916392
128Aplasia/Hypoplasia of the 5th finger (HP:0006262)1.83855707
129Proximal placement of thumb (HP:0009623)1.83627988
130Excessive salivation (HP:0003781)1.82810910
131Increased corneal curvature (HP:0100692)1.82242292
132Keratoconus (HP:0000563)1.82242292
133Elfin facies (HP:0004428)1.80726661
134Increased number of teeth (HP:0011069)1.80707074
135Cervical subluxation (HP:0003308)1.79948243
136Abolished electroretinogram (ERG) (HP:0000550)1.79323176
137Dialeptic seizures (HP:0011146)1.77883796
138Postaxial foot polydactyly (HP:0001830)1.77845628
139Absent radius (HP:0003974)1.77783864
140Dandy-Walker malformation (HP:0001305)1.77281720
141Abnormality of the pubic bones (HP:0003172)1.77175513
142Hypoplasia of the pons (HP:0012110)1.77136338
143Cutaneous syndactyly (HP:0012725)1.76573365
144Hyperkalemia (HP:0002153)1.76113079
145Partial agenesis of the corpus callosum (HP:0001338)1.75630230
146Short middle phalanx of the 5th finger (HP:0004220)1.75498028
147Enlarged penis (HP:0000040)1.75398461
148Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.75320383
149Wide anterior fontanel (HP:0000260)1.75272096
150Small hand (HP:0200055)1.74346266
151Bell-shaped thorax (HP:0001591)1.73904381
152Male pseudohermaphroditism (HP:0000037)1.73810791
153Impaired smooth pursuit (HP:0007772)1.72946931
154Broad palm (HP:0001169)1.72886529
155Missing ribs (HP:0000921)1.72868897
156Hypoplastic labia majora (HP:0000059)1.71189022
157Hypoplastic iliac wings (HP:0002866)1.71130843
158Abnormality of the pons (HP:0007361)1.71065912
159Tracheomalacia (HP:0002779)1.70881845
160Overriding aorta (HP:0002623)1.70824180
161Volvulus (HP:0002580)1.70215751
162Absent forearm bone (HP:0003953)1.70186595
163Aplasia involving forearm bones (HP:0009822)1.70186595
164Spinal rigidity (HP:0003306)1.69522796
165Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.69501116
166Short 1st metacarpal (HP:0010034)1.69501116
167Exostoses (HP:0100777)1.69045215
168Congenital sensorineural hearing impairment (HP:0008527)1.68551186
169Concave nail (HP:0001598)1.68151292
170Synostosis of carpal bones (HP:0005048)1.68055182
171Microglossia (HP:0000171)1.67988003
172Abnormality of the diencephalon (HP:0010662)1.67668539
173Scapular winging (HP:0003691)1.67391026
174Abnormality of binocular vision (HP:0011514)1.66813562
175Abnormality of the calcaneus (HP:0008364)1.66048295
176Type 1 muscle fiber predominance (HP:0003803)1.65770030
177Macroorchidism (HP:0000053)1.65052959
178Atresia of the external auditory canal (HP:0000413)1.65003416
179Short phalanx of the thumb (HP:0009660)1.64586322
180Glioma (HP:0009733)1.63091922
181Skull defect (HP:0001362)1.63065216
182Overgrowth (HP:0001548)1.62934949
183Medulloblastoma (HP:0002885)1.62082379
184Joint laxity (HP:0001388)1.61665523
185Turricephaly (HP:0000262)1.61169457
186Genu recurvatum (HP:0002816)1.61115912
187Abnormality of the phalanges of the hallux (HP:0010057)1.60614236
188Hypoplastic ischia (HP:0003175)1.60167080
189Wormian bones (HP:0002645)1.59569525
190Abnormality of the 2nd finger (HP:0004100)1.58941791
191Ankyloglossia (HP:0010296)1.58120081
192Blue sclerae (HP:0000592)1.58025204
193Supernumerary ribs (HP:0005815)1.57415629
194Morphological abnormality of the middle ear (HP:0008609)1.57326706
195Hypoplasia of the maxilla (HP:0000327)1.56523443
196Camptodactyly of toe (HP:0001836)1.55950616
197Narrow palate (HP:0000189)1.55799272

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ACVR1B4.21842780
2LATS13.72951065
3BMPR1B3.54836979
4PDGFRA2.77084273
5DDR22.67863929
6PKN22.62738790
7TRIB32.54014950
8CDC72.50146441
9TTN2.42760415
10LATS22.40539897
11EEF2K2.22722694
12CDK122.22020944
13CASK2.21481840
14EPHB22.13975295
15AKT32.02660176
16PASK1.96575357
17MKNK11.93547851
18ADRBK21.90447359
19RIPK11.81767873
20INSRR1.78090301
21MAP3K101.77811246
22NEK11.76686908
23PTK61.70299371
24ERBB31.69143269
25TGFBR11.65467245
26FGFR11.64608811
27SIK11.59272782
28WNK41.56000648
29PAK41.54573304
30GRK11.47519321
31PAK21.41214944
32TNIK1.39610859
33FER1.39595613
34MAPK131.39160209
35STK31.39142250
36MTOR1.38097421
37BRD41.36791770
38OBSCN1.34214241
39TAOK31.32060054
40PIK3CA1.30951433
41NEK21.30895767
42WNK31.29778877
43FGFR21.29760506
44CDK61.29697408
45ZAK1.29599913
46SCYL21.28916398
47OXSR11.28027135
48PLK31.26898086
49RPS6KB21.26825225
50MET1.25480669
51TRPM71.22152472
52MAP3K41.19534319
53CAMK1D1.18075608
54STK38L1.17531900
55STK391.16603008
56TTK1.15768842
57NTRK31.14447472
58TSSK61.14006076
59KSR11.13693928
60PRKD31.12718212
61ICK1.10707986
62PTK21.06921385
63SIK21.06897228
64MARK11.03889707
65CAMK1G1.03509763
66CAMKK21.01749075
67PIK3CG1.00810565
68MKNK20.97024312
69ERBB20.95854285
70SGK20.95851265
71PDGFRB0.95659951
72MAP3K70.93826121
73PINK10.92037111
74WEE10.90992282
75NUAK10.90794738
76BMX0.88441837
77PRKAA20.86926439
78ALK0.86431406
79DAPK20.85900849
80ATR0.85721732
81TLK10.85423050
82CDK70.83688905
83WNK10.80975924
84NTRK20.80032207
85PAK30.79367384
86SRPK10.79240014
87TYRO30.79114842
88CHEK10.78113108
89STK380.76707104
90CHUK0.76399011
91MAP3K80.75492519
92PLK10.74968692
93DMPK0.73086114
94CSNK1A1L0.72645218
95* ADRBK10.72595277
96AURKB0.72565633
97EPHA20.70986133
98ATM0.67971964
99CDK40.67090555
100ILK0.66403897
101BRSK20.66155049
102STK110.65474261
103LMTK20.65385093
104EPHA30.63988171
105CAMKK10.63760977
106LRRK20.63545615
107PRKCE0.63419436
108PRKCG0.63126830
109SGK4940.62920702
110SGK2230.62920702
111CAMK10.62858161
112LIMK10.62194853
113PLK20.61470227
114PTK2B0.61408217
115NLK0.61088433
116CDK20.60234765
117ROCK10.59645142
118CDK10.59432745
119RET0.58768019
120FRK0.58684352
121DYRK1B0.57053347
122CHEK20.56438757
123MELK0.56129972
124RPS6KA40.56049865
125MAPKAPK30.55378609
126TEC0.54432002
127PRKAA10.53879916
128CAMK40.52845555
129RPS6KA60.52805975
130MAP2K10.51360795
131CSNK1E0.51303753
132PRKDC0.51108158
133FLT30.50885191
134PAK60.50858304
135AKT20.48826654
136SGK10.48583851
137CDC42BPA0.48493239
138STK240.47493105
139TESK10.47368343
140CSNK1D0.46868953
141BCR0.46384754
142MUSK0.45367490
143SGK30.44847690
144CSNK1G10.44676105
145MAPK150.44523351
146CAMK2A0.44391765
147MARK20.44032766
148PNCK0.43638945
149CDK90.42922959
150PKN10.42779992
151PHKG10.42454243
152PHKG20.42454243
153NEK90.42406964
154PRKCH0.40739209
155AKT10.40635410
156MAPK140.38944781
157MAPK10.37970451
158CDK140.36756943
159MAP2K70.36435592
160TIE10.36302749
161ROCK20.36117325
162FGFR30.36053530
163GRK70.35561309
164CSNK1G30.34878365
165MAP2K40.34793518
166GSK3B0.33657438
167PRKACA0.29811034
168* RPS6KA30.28355532
169MAPK110.27691450
170PRKG10.27409200
171PRKCZ0.26354214
172PRKACB0.25384293

Predicted pathways (KEGG)

RankGene SetZ-score
1Basal cell carcinoma_Homo sapiens_hsa052173.07056214
2Nicotine addiction_Homo sapiens_hsa050332.87256277
3Hippo signaling pathway_Homo sapiens_hsa043902.70474110
4Hedgehog signaling pathway_Homo sapiens_hsa043402.50145780
5Adherens junction_Homo sapiens_hsa045202.38117309
6alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.35552926
7Linoleic acid metabolism_Homo sapiens_hsa005912.34414291
8ECM-receptor interaction_Homo sapiens_hsa045122.30520370
9Nitrogen metabolism_Homo sapiens_hsa009102.22111445
10Cell cycle_Homo sapiens_hsa041102.21514893
11ABC transporters_Homo sapiens_hsa020102.20655545
12Phototransduction_Homo sapiens_hsa047442.17268592
13Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045502.03454708
14TGF-beta signaling pathway_Homo sapiens_hsa043502.03283788
15Focal adhesion_Homo sapiens_hsa045102.02288204
16Proteoglycans in cancer_Homo sapiens_hsa052051.98788058
17Butanoate metabolism_Homo sapiens_hsa006501.98499114
18MicroRNAs in cancer_Homo sapiens_hsa052061.98464493
19Tryptophan metabolism_Homo sapiens_hsa003801.84888441
20Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.84779368
21RNA transport_Homo sapiens_hsa030131.83431786
22Taste transduction_Homo sapiens_hsa047421.82114616
23mRNA surveillance pathway_Homo sapiens_hsa030151.82019770
24Small cell lung cancer_Homo sapiens_hsa052221.69664680
25Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.67349580
26Glutamatergic synapse_Homo sapiens_hsa047241.66467159
27Tight junction_Homo sapiens_hsa045301.65077463
28Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.64869854
29Morphine addiction_Homo sapiens_hsa050321.64095640
30Spliceosome_Homo sapiens_hsa030401.63690011
31Wnt signaling pathway_Homo sapiens_hsa043101.63417128
32Steroid hormone biosynthesis_Homo sapiens_hsa001401.58281184
33Chronic myeloid leukemia_Homo sapiens_hsa052201.57387293
34Colorectal cancer_Homo sapiens_hsa052101.56428826
35Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.56237282
36Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.55147263
37Endometrial cancer_Homo sapiens_hsa052131.55070023
38Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.52718890
39Bladder cancer_Homo sapiens_hsa052191.50429259
40Circadian entrainment_Homo sapiens_hsa047131.49542853
41Calcium signaling pathway_Homo sapiens_hsa040201.47744416
42Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.47279995
43Primary bile acid biosynthesis_Homo sapiens_hsa001201.47128901
44Ether lipid metabolism_Homo sapiens_hsa005651.44609280
45Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.43712725
46* Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.43635497
47Central carbon metabolism in cancer_Homo sapiens_hsa052301.39693606
48Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.39380768
49Serotonergic synapse_Homo sapiens_hsa047261.38738894
50Vascular smooth muscle contraction_Homo sapiens_hsa042701.37982020
51Axon guidance_Homo sapiens_hsa043601.35941939
52Thyroid cancer_Homo sapiens_hsa052161.35729800
53Oocyte meiosis_Homo sapiens_hsa041141.35624635
54Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.35056583
55mTOR signaling pathway_Homo sapiens_hsa041501.34832275
56Notch signaling pathway_Homo sapiens_hsa043301.34255651
57Histidine metabolism_Homo sapiens_hsa003401.33986902
58Lysine degradation_Homo sapiens_hsa003101.33833902
59Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.33669706
60Melanogenesis_Homo sapiens_hsa049161.31549813
61Dilated cardiomyopathy_Homo sapiens_hsa054141.30971959
62Ovarian steroidogenesis_Homo sapiens_hsa049131.30081462
63Melanoma_Homo sapiens_hsa052181.28537991
64Mismatch repair_Homo sapiens_hsa034301.27306927
65Insulin secretion_Homo sapiens_hsa049111.27240127
66Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.26370237
67Viral myocarditis_Homo sapiens_hsa054161.25605597
68GABAergic synapse_Homo sapiens_hsa047271.25562595
69DNA replication_Homo sapiens_hsa030301.24920361
70Pathways in cancer_Homo sapiens_hsa052001.24793820
71Olfactory transduction_Homo sapiens_hsa047401.24710143
72Prostate cancer_Homo sapiens_hsa052151.24377566
73Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.21693596
74One carbon pool by folate_Homo sapiens_hsa006701.21668834
75Glioma_Homo sapiens_hsa052141.21450677
76Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.21409369
77Salivary secretion_Homo sapiens_hsa049701.19994818
78Protein digestion and absorption_Homo sapiens_hsa049741.19888018
79Cholinergic synapse_Homo sapiens_hsa047251.17888029
80HTLV-I infection_Homo sapiens_hsa051661.17328642
81Glycerolipid metabolism_Homo sapiens_hsa005611.16578819
82Thyroid hormone signaling pathway_Homo sapiens_hsa049191.14078685
83Long-term depression_Homo sapiens_hsa047301.12659184
84PI3K-Akt signaling pathway_Homo sapiens_hsa041511.10493824
85Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.09770464
86p53 signaling pathway_Homo sapiens_hsa041151.09233019
87Fatty acid biosynthesis_Homo sapiens_hsa000611.06801075
88Caffeine metabolism_Homo sapiens_hsa002321.06343202
89Homologous recombination_Homo sapiens_hsa034401.05996703
90Viral carcinogenesis_Homo sapiens_hsa052031.03952393
91Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.03935932
92Gastric acid secretion_Homo sapiens_hsa049711.03833114
93Fanconi anemia pathway_Homo sapiens_hsa034600.98432994
94AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.97577855
95cAMP signaling pathway_Homo sapiens_hsa040240.95931174
96Amoebiasis_Homo sapiens_hsa051460.95832234
97Retinol metabolism_Homo sapiens_hsa008300.95569518
98Chemical carcinogenesis_Homo sapiens_hsa052040.94930290
99Non-small cell lung cancer_Homo sapiens_hsa052230.92790211
100Pancreatic cancer_Homo sapiens_hsa052120.90187163
101AMPK signaling pathway_Homo sapiens_hsa041520.89775276
102Estrogen signaling pathway_Homo sapiens_hsa049150.89670655
103Gap junction_Homo sapiens_hsa045400.89373069
104Circadian rhythm_Homo sapiens_hsa047100.88945067
105Rap1 signaling pathway_Homo sapiens_hsa040150.88511218
106Renal cell carcinoma_Homo sapiens_hsa052110.88358721
107Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.88296770
108Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.85547190
109Dopaminergic synapse_Homo sapiens_hsa047280.85273368
110Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.84450641
111Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.82578641
112Alcoholism_Homo sapiens_hsa050340.82480633
113Nucleotide excision repair_Homo sapiens_hsa034200.82287203
114Regulation of actin cytoskeleton_Homo sapiens_hsa048100.81538172
115Aldosterone synthesis and secretion_Homo sapiens_hsa049250.80150575
116Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.80049334
117Systemic lupus erythematosus_Homo sapiens_hsa053220.79200069
118Neurotrophin signaling pathway_Homo sapiens_hsa047220.78900081
119Transcriptional misregulation in cancer_Homo sapiens_hsa052020.78674962
120RNA degradation_Homo sapiens_hsa030180.77763226
121Renin secretion_Homo sapiens_hsa049240.75471058
122Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.75195372
123Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.75116452
124Insulin signaling pathway_Homo sapiens_hsa049100.74978874
125Longevity regulating pathway - mammal_Homo sapiens_hsa042110.73454280
126Bile secretion_Homo sapiens_hsa049760.73206495
127Maturity onset diabetes of the young_Homo sapiens_hsa049500.72904162
128Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.71675449
129Base excision repair_Homo sapiens_hsa034100.70790137
130Glucagon signaling pathway_Homo sapiens_hsa049220.70564343
131Arachidonic acid metabolism_Homo sapiens_hsa005900.68995480
132Insulin resistance_Homo sapiens_hsa049310.68825127
133Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.67872033
134Cocaine addiction_Homo sapiens_hsa050300.67761742
135Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.67686986
136FoxO signaling pathway_Homo sapiens_hsa040680.67629698
1372-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.67564190
138Carbohydrate digestion and absorption_Homo sapiens_hsa049730.67337905
139Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.67329791
140Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.67283918
141MAPK signaling pathway_Homo sapiens_hsa040100.64784073
142ErbB signaling pathway_Homo sapiens_hsa040120.64659409
143Pancreatic secretion_Homo sapiens_hsa049720.64554720
144Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.64327675
145beta-Alanine metabolism_Homo sapiens_hsa004100.63716633
146Glycerophospholipid metabolism_Homo sapiens_hsa005640.62213722
147Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.61645244
148Leukocyte transendothelial migration_Homo sapiens_hsa046700.60763889
149HIF-1 signaling pathway_Homo sapiens_hsa040660.60729038
150cGMP-PKG signaling pathway_Homo sapiens_hsa040220.59439519
151Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.58845457
152Ras signaling pathway_Homo sapiens_hsa040140.56387708
153Choline metabolism in cancer_Homo sapiens_hsa052310.56291637
154Mineral absorption_Homo sapiens_hsa049780.52256197
155N-Glycan biosynthesis_Homo sapiens_hsa005100.51213941
156Amphetamine addiction_Homo sapiens_hsa050310.50503808
157Dorso-ventral axis formation_Homo sapiens_hsa043200.48882724
158Propanoate metabolism_Homo sapiens_hsa006400.47824570
159Thyroid hormone synthesis_Homo sapiens_hsa049180.47690775
160Type II diabetes mellitus_Homo sapiens_hsa049300.47511644
161Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.43652630
162Phospholipase D signaling pathway_Homo sapiens_hsa040720.43602710
163Platelet activation_Homo sapiens_hsa046110.42374153
164Phosphatidylinositol signaling system_Homo sapiens_hsa040700.41916609
165Biosynthesis of amino acids_Homo sapiens_hsa012300.41782554
166Sphingolipid metabolism_Homo sapiens_hsa006000.41117175
167Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.41014204
168Basal transcription factors_Homo sapiens_hsa030220.40121140
169Intestinal immune network for IgA production_Homo sapiens_hsa046720.39925792
170VEGF signaling pathway_Homo sapiens_hsa043700.38818865
171GnRH signaling pathway_Homo sapiens_hsa049120.37409156
172Selenocompound metabolism_Homo sapiens_hsa004500.36088474
173Oxytocin signaling pathway_Homo sapiens_hsa049210.35850264
174Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.35416170
175Hepatitis B_Homo sapiens_hsa051610.35100302

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