EPB41L4A

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: The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1dosage compensation (GO:0007549)6.04467445
2growth hormone secretion (GO:0030252)5.40640226
3epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.79929292
4adult feeding behavior (GO:0008343)4.63286019
5behavioral response to nicotine (GO:0035095)4.45287676
6regulation of transcription from RNA polymerase I promoter (GO:0006356)4.24505734
7paraxial mesoderm development (GO:0048339)4.13965629
8regulation of gene silencing by RNA (GO:0060966)4.12419839
9regulation of posttranscriptional gene silencing (GO:0060147)4.12419839
10regulation of gene silencing by miRNA (GO:0060964)4.12419839
11cilium or flagellum-dependent cell motility (GO:0001539)4.12320553
12epithelial cilium movement (GO:0003351)4.09016624
13regulation of response to food (GO:0032095)3.91894562
14interferon-gamma secretion (GO:0072643)3.87953825
15cilium movement (GO:0003341)3.87510031
16negative regulation of androgen receptor signaling pathway (GO:0060766)3.75257596
17anterior/posterior axis specification, embryo (GO:0008595)3.64439575
18positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)3.62573814
19detection of light stimulus involved in visual perception (GO:0050908)3.54335138
20detection of light stimulus involved in sensory perception (GO:0050962)3.54335138
21detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.52710516
22planar cell polarity pathway involved in neural tube closure (GO:0090179)3.52386190
23protein localization to cilium (GO:0061512)3.51840817
24axoneme assembly (GO:0035082)3.50030927
25piRNA metabolic process (GO:0034587)3.45800739
26regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.42349911
27histone H3-K9 demethylation (GO:0033169)3.40983558
28regulation of cilium movement (GO:0003352)3.33942236
29regulation of meiosis I (GO:0060631)3.30989965
30negative regulation of gene expression, epigenetic (GO:0045814)3.27764345
31retinal cone cell development (GO:0046549)3.24638132
32axonemal dynein complex assembly (GO:0070286)3.23934217
33mitotic cell cycle arrest (GO:0071850)3.20391177
34nonmotile primary cilium assembly (GO:0035058)3.17133278
35regulation of appetite (GO:0032098)3.16640769
36cell-cell junction maintenance (GO:0045217)3.16170960
37cilium organization (GO:0044782)3.15365026
38primitive streak formation (GO:0090009)3.14643826
39cilium morphogenesis (GO:0060271)3.14549141
40gamma-aminobutyric acid transport (GO:0015812)3.14191625
41photoreceptor cell maintenance (GO:0045494)3.13962875
42protein polyglutamylation (GO:0018095)3.11507153
43establishment of protein localization to Golgi (GO:0072600)3.11487009
44reflex (GO:0060004)3.10010079
45cilium assembly (GO:0042384)3.09717942
46establishment of apical/basal cell polarity (GO:0035089)3.07997216
47neural tube formation (GO:0001841)3.06827798
48lateral sprouting from an epithelium (GO:0060601)3.06117672
49presynaptic membrane assembly (GO:0097105)3.05778519
50lung-associated mesenchyme development (GO:0060484)3.05660287
51male sex determination (GO:0030238)3.05507828
52indolalkylamine metabolic process (GO:0006586)3.04976143
53intraciliary transport (GO:0042073)3.02080892
54G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.01327002
55regulation of hippo signaling (GO:0035330)3.00100744
56indole-containing compound catabolic process (GO:0042436)2.99544763
57indolalkylamine catabolic process (GO:0046218)2.99544763
58tryptophan catabolic process (GO:0006569)2.99544763
59intra-S DNA damage checkpoint (GO:0031573)2.98172078
60ectodermal placode formation (GO:0060788)2.97593879
61response to pheromone (GO:0019236)2.95316345
62establishment of monopolar cell polarity (GO:0061162)2.94419109
63establishment or maintenance of monopolar cell polarity (GO:0061339)2.94419109
64kynurenine metabolic process (GO:0070189)2.93702322
65DNA replication-dependent nucleosome organization (GO:0034723)2.92872432
66DNA replication-dependent nucleosome assembly (GO:0006335)2.92872432
67outer ear morphogenesis (GO:0042473)2.91807481
68histone H4-K5 acetylation (GO:0043981)2.90996452
69histone H4-K8 acetylation (GO:0043982)2.90996452
70negative regulation of translation, ncRNA-mediated (GO:0040033)2.90150310
71regulation of translation, ncRNA-mediated (GO:0045974)2.90150310
72negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.90150310
73cell junction maintenance (GO:0034331)2.89882141
74presynaptic membrane organization (GO:0097090)2.88609809
75DNA replication initiation (GO:0006270)2.87772827
76cellular ketone body metabolic process (GO:0046950)2.86601271
77urogenital system development (GO:0001655)2.85543773
78pyrimidine nucleobase catabolic process (GO:0006208)2.83844822
79interkinetic nuclear migration (GO:0022027)2.83802932
80dorsal/ventral axis specification (GO:0009950)2.83372066
81cochlea morphogenesis (GO:0090103)2.81891345
82negative regulation of cytosolic calcium ion concentration (GO:0051481)2.79604735
83behavioral response to ethanol (GO:0048149)2.78513449
84forebrain neuron differentiation (GO:0021879)2.78468380
85DNA demethylation (GO:0080111)2.78166351
86negative regulation of histone methylation (GO:0031061)2.76577528
87embryonic axis specification (GO:0000578)2.75906805
88protein K11-linked deubiquitination (GO:0035871)2.74893067
89neuronal action potential (GO:0019228)2.74182011
90DNA double-strand break processing (GO:0000729)2.73764267
91histone H4-K12 acetylation (GO:0043983)2.73524092
92postsynaptic membrane organization (GO:0001941)2.71440702
93Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.71008534
94convergent extension (GO:0060026)2.70473108
95nuclear pore organization (GO:0006999)2.69239717
96regulation of development, heterochronic (GO:0040034)2.68815832
97establishment of planar polarity (GO:0001736)2.68643937
98establishment of tissue polarity (GO:0007164)2.68643937
99limb development (GO:0060173)2.68596221
100appendage development (GO:0048736)2.68596221
101regulation of establishment of planar polarity (GO:0090175)2.68437654
102regulation of helicase activity (GO:0051095)2.68315445
103pre-miRNA processing (GO:0031054)2.66613289
104positive regulation of male gonad development (GO:2000020)2.65858333
105cAMP catabolic process (GO:0006198)2.63547103
106nuclear pore complex assembly (GO:0051292)2.63463540
107peristalsis (GO:0030432)2.63393706
108ketone body metabolic process (GO:1902224)2.62505082
109cranial nerve morphogenesis (GO:0021602)2.61919885
110histone arginine methylation (GO:0034969)2.60496316
111photoreceptor cell development (GO:0042461)2.59783201
112regulation of sarcomere organization (GO:0060297)2.59210598
113motile cilium assembly (GO:0044458)2.58982880
114cellular component assembly involved in morphogenesis (GO:0010927)2.58781085
115mitotic cytokinesis (GO:0000281)2.57916230
116glomerular epithelial cell development (GO:0072310)2.57864392
117fucose catabolic process (GO:0019317)2.56722737
118L-fucose metabolic process (GO:0042354)2.56722737
119L-fucose catabolic process (GO:0042355)2.56722737
120non-canonical Wnt signaling pathway (GO:0035567)2.56382805
121transmission of nerve impulse (GO:0019226)2.55869514
122tryptophan metabolic process (GO:0006568)2.55301130
123kidney morphogenesis (GO:0060993)2.54000340
124regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.53513962
125startle response (GO:0001964)2.53086717
126negative regulation of appetite (GO:0032099)2.51472144
127negative regulation of response to food (GO:0032096)2.51472144
128regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.51412593
129inner ear receptor stereocilium organization (GO:0060122)2.50178823
130spliceosomal tri-snRNP complex assembly (GO:0000244)2.49970429
131negative regulation of systemic arterial blood pressure (GO:0003085)2.49961195
132positive regulation of meiosis (GO:0045836)2.49952451
133somite development (GO:0061053)2.49662222
134positive regulation of SMAD protein import into nucleus (GO:0060391)2.49194253
135notochord development (GO:0030903)2.49017858
136sulfation (GO:0051923)2.49010182
137regulation of cell-cell adhesion mediated by cadherin (GO:2000047)2.48794286
138nucleobase catabolic process (GO:0046113)2.47914043
139DNA methylation involved in gamete generation (GO:0043046)2.47172134
140indole-containing compound metabolic process (GO:0042430)2.46642931
141regulation of SMAD protein import into nucleus (GO:0060390)2.45367208
142cornea development in camera-type eye (GO:0061303)2.44606106
143polarized epithelial cell differentiation (GO:0030859)2.44598027
144monoubiquitinated protein deubiquitination (GO:0035520)2.43955011
145establishment of nucleus localization (GO:0040023)2.43815873
146regulation of telomere maintenance via telomerase (GO:0032210)2.43749071
147neuronal action potential propagation (GO:0019227)2.43147140
148embryonic camera-type eye development (GO:0031076)2.43131886
149gonadal mesoderm development (GO:0007506)2.43026375
150somatic hypermutation of immunoglobulin genes (GO:0016446)2.42833331
151somatic diversification of immune receptors via somatic mutation (GO:0002566)2.42833331
152eye photoreceptor cell development (GO:0042462)2.42120433
153mitotic metaphase plate congression (GO:0007080)2.41843073
154cyclic nucleotide catabolic process (GO:0009214)2.41840029
155serotonin metabolic process (GO:0042428)2.41803671
156membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.41416918
157regulation of androgen receptor signaling pathway (GO:0060765)2.40989767
158auditory behavior (GO:0031223)2.39383263
159central nervous system neuron axonogenesis (GO:0021955)2.39263206
160thyroid hormone metabolic process (GO:0042403)2.38826710
161regulation of action potential (GO:0098900)2.38121738
162rRNA catabolic process (GO:0016075)2.37504004
163negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)2.37431344
164acrosome reaction (GO:0007340)2.37166138
165retina layer formation (GO:0010842)2.36779747
166branching involved in mammary gland duct morphogenesis (GO:0060444)2.36658800
167spinal cord motor neuron differentiation (GO:0021522)2.35895664
168negative regulation of interleukin-1 production (GO:0032692)2.35317162
169cell surface receptor signaling pathway involved in heart development (GO:0061311)2.34925510
170embryonic foregut morphogenesis (GO:0048617)2.34748262
171synaptic transmission, cholinergic (GO:0007271)2.34208819
172cell migration in hindbrain (GO:0021535)2.33951129
173atrial cardiac muscle cell action potential (GO:0086014)2.33647080
174regulation of male gonad development (GO:2000018)2.33061023
175glomerular visceral epithelial cell development (GO:0072015)2.32804015
176dopaminergic neuron differentiation (GO:0071542)2.32304302
177regulation of collateral sprouting (GO:0048670)2.32242419
178neuron cell-cell adhesion (GO:0007158)2.32066944
179membrane depolarization during action potential (GO:0086010)2.31737619
180positive regulation of meiotic cell cycle (GO:0051446)2.31664205
181auditory receptor cell stereocilium organization (GO:0060088)2.30877150
182detection of mechanical stimulus involved in sensory perception (GO:0050974)2.30868955
183DNA unwinding involved in DNA replication (GO:0006268)2.30803497
184segment specification (GO:0007379)2.30479387
185mesenchymal cell proliferation (GO:0010463)2.30325927
186negative regulation of chromosome segregation (GO:0051985)2.29846935
187establishment of integrated proviral latency (GO:0075713)2.29755454
188negative regulation of interleukin-1 beta production (GO:0032691)2.29636129
189snRNA transcription (GO:0009301)2.29622837
190epithelial cell-cell adhesion (GO:0090136)2.29519984
191neurofilament cytoskeleton organization (GO:0060052)2.29375896
192histone H4-K16 acetylation (GO:0043984)2.27580309
193peptidyl-arginine omega-N-methylation (GO:0035247)2.27506891
194lens fiber cell development (GO:0070307)2.26676937
195myotube differentiation (GO:0014902)2.26605181
196mitotic nuclear envelope disassembly (GO:0007077)2.26222825

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.49826782
2EZH2_22144423_ChIP-Seq_EOC_Human3.71615180
3SMAD1_18555785_ChIP-Seq_MESCs_Mouse3.64042088
4GBX2_23144817_ChIP-Seq_PC3_Human3.23097443
5ZFP281_18358816_ChIP-ChIP_MESCs_Mouse3.16888053
6MYC_18555785_ChIP-Seq_MESCs_Mouse3.16656199
7SMAD3_22036565_ChIP-Seq_ESCs_Mouse3.10681762
8NACC1_18358816_ChIP-ChIP_MESCs_Mouse3.01296169
9KLF5_18264089_ChIP-ChIP_MESCs_Mouse3.00018333
10KLF4_18264089_ChIP-ChIP_MESCs_Mouse3.00018333
11KLF2_18264089_ChIP-ChIP_MESCs_Mouse3.00018333
12VDR_22108803_ChIP-Seq_LS180_Human2.98089442
13ZNF274_21170338_ChIP-Seq_K562_Hela2.97770582
14SALL1_21062744_ChIP-ChIP_HESCs_Human2.95378344
15NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.92305373
16POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.88155120
17* ZIC3_20872845_ChIP-ChIP_MESCs_Mouse2.85328058
18MYC_19079543_ChIP-ChIP_MESCs_Mouse2.82492542
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.80616281
20TP63_17297297_ChIP-ChIP_HaCaT_Human2.77944767
21IGF1R_20145208_ChIP-Seq_DFB_Human2.76522592
22FOXM1_23109430_ChIP-Seq_U2OS_Human2.76336735
23SALL4_18804426_ChIP-ChIP_MESCs_Mouse2.72073495
24ZFP57_27257070_Chip-Seq_ESCs_Mouse2.67342767
25GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.64002011
26* SOX2_18555785_ChIP-Seq_MESCs_Mouse2.62965174
27SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.62278833
28TCF3_18692474_ChIP-Seq_MEFs_Mouse2.60987156
29TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.52314552
30POU5F1_18358816_ChIP-ChIP_MESCs_Mouse2.44162453
31* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.42469062
32TAF15_26573619_Chip-Seq_HEK293_Human2.38111201
33CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.36719715
34TCF3_18692474_ChIP-Seq_MESCs_Mouse2.36418709
35NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.31734988
36CTBP2_25329375_ChIP-Seq_LNCAP_Human2.30139138
37P300_19829295_ChIP-Seq_ESCs_Human2.13486736
38EWS_26573619_Chip-Seq_HEK293_Human2.13182090
39BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.12332927
40FUS_26573619_Chip-Seq_HEK293_Human2.11267521
41* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.07016727
42CTBP1_25329375_ChIP-Seq_LNCAP_Human2.04675462
43ZFP281_18757296_ChIP-ChIP_E14_Mouse2.03697567
44HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse2.03416029
45TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.99867344
46SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.95246515
47AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.94913549
48RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.92710139
49KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.92105877
50* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.87076920
51* SMAD4_21799915_ChIP-Seq_A2780_Human1.86354511
52* KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.86300144
53MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.85721274
54PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.85499465
55E2F4_17652178_ChIP-ChIP_JURKAT_Human1.84691651
56* NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.84575490
57PIAS1_25552417_ChIP-Seq_VCAP_Human1.84574369
58* STAT3_23295773_ChIP-Seq_U87_Human1.81820931
59TP63_19390658_ChIP-ChIP_HaCaT_Human1.81814689
60FLI1_27457419_Chip-Seq_LIVER_Mouse1.80644232
61NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.79711943
62NANOG_18555785_ChIP-Seq_MESCs_Mouse1.78609603
63FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.78093978
64ER_23166858_ChIP-Seq_MCF-7_Human1.76585282
65SOX2_18692474_ChIP-Seq_MEFs_Mouse1.72104066
66ZNF263_19887448_ChIP-Seq_K562_Human1.66571389
67BCAT_22108803_ChIP-Seq_LS180_Human1.65748350
68* SOX2_18692474_ChIP-Seq_MESCs_Mouse1.65576365
69POU5F1_16518401_ChIP-PET_MESCs_Mouse1.64658665
70AR_21572438_ChIP-Seq_LNCaP_Human1.64165607
71UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.62461471
72SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.62419941
73TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.62134552
74SMAD3_21741376_ChIP-Seq_EPCs_Human1.61059159
75POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.60737665
76TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.60737665
77* TCF4_23295773_ChIP-Seq_U87_Human1.58500339
78MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.58224137
79CBP_20019798_ChIP-Seq_JUKART_Human1.57049197
80IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.57049197
81NR3C1_21868756_ChIP-Seq_MCF10A_Human1.56665119
82CBX2_27304074_Chip-Seq_ESCs_Mouse1.55751827
83AR_25329375_ChIP-Seq_VCAP_Human1.55420088
84PCGF2_27294783_Chip-Seq_ESCs_Mouse1.51890508
85HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.51418601
86POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.51154882
87TOP2B_26459242_ChIP-Seq_MCF-7_Human1.50899687
88RBPJ_22232070_ChIP-Seq_NCS_Mouse1.49687136
89POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.48540985
90RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.47825940
91AR_21909140_ChIP-Seq_LNCAP_Human1.47258845
92MYC_18358816_ChIP-ChIP_MESCs_Mouse1.47243650
93NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.46867207
94NANOG_21062744_ChIP-ChIP_HESCs_Human1.46761106
95RNF2_27304074_Chip-Seq_NSC_Mouse1.44946579
96* NANOG_18692474_ChIP-Seq_MESCs_Mouse1.44892631
97ZFP281_27345836_Chip-Seq_ESCs_Mouse1.44619552
98REST_21632747_ChIP-Seq_MESCs_Mouse1.43918372
99NANOG_18692474_ChIP-Seq_MEFs_Mouse1.43446581
100* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.42948376
101OCT4_18692474_ChIP-Seq_MEFs_Mouse1.42400481
102CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.39790955
103* POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.39334599
104RUNX2_22187159_ChIP-Seq_PCA_Human1.39058643
105NELFA_20434984_ChIP-Seq_ESCs_Mouse1.38111371
106SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.36405576
107TCF4_22108803_ChIP-Seq_LS180_Human1.35350081
108* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34396048
109PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.32898101
110PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.32052058
111ESR1_15608294_ChIP-ChIP_MCF-7_Human1.30466523
112E2F1_18555785_ChIP-Seq_MESCs_Mouse1.28364577
113PCGF2_27294783_Chip-Seq_NPCs_Mouse1.27932041
114KLF5_20875108_ChIP-Seq_MESCs_Mouse1.26698754
115SOX2_16153702_ChIP-ChIP_HESCs_Human1.26083740
116CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.25387740
117HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.25070131
118NANOG_16153702_ChIP-ChIP_HESCs_Human1.23953417
119MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.23847112
120SMAD4_21741376_ChIP-Seq_EPCs_Human1.23483423
121TP53_16413492_ChIP-PET_HCT116_Human1.23253677
122DROSHA_22980978_ChIP-Seq_HELA_Human1.22448300
123XRN2_22483619_ChIP-Seq_HELA_Human1.22065782
124TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.21217134
125EGR1_19374776_ChIP-ChIP_THP-1_Human1.20290263
126EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.19391347
127TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18813197
128ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.18767096
129TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.18750515
130* TTF2_22483619_ChIP-Seq_HELA_Human1.18417346
131SUZ12_27294783_Chip-Seq_NPCs_Mouse1.18292115
132PRDM14_20953172_ChIP-Seq_ESCs_Human1.18152069
133EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.17155060
134EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.16857145
135AHR_22903824_ChIP-Seq_MCF-7_Human1.16463194
136STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.15931055
137TP53_22573176_ChIP-Seq_HFKS_Human1.15601650
138ARNT_22903824_ChIP-Seq_MCF-7_Human1.15350408
139MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.15198661
140CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14686198
141NANOG_18555785_Chip-Seq_ESCs_Mouse1.14669408
142* NANOG_19829295_ChIP-Seq_ESCs_Human1.14542525
143* SOX2_19829295_ChIP-Seq_ESCs_Human1.14542525
144STAT6_21828071_ChIP-Seq_BEAS2B_Human1.13914618
145GATA1_26923725_Chip-Seq_HPCs_Mouse1.13888137
146STAT3_1855785_ChIP-Seq_MESCs_Mouse1.13812566
147SOX2_21211035_ChIP-Seq_LN229_Gbm1.13634677
148KAP1_27257070_Chip-Seq_ESCs_Mouse1.13363490
149EZH2_27304074_Chip-Seq_ESCs_Mouse1.13094987
150TP53_20018659_ChIP-ChIP_R1E_Mouse1.12968103
151EZH2_27294783_Chip-Seq_NPCs_Mouse1.12711120
152POU5F1_16153702_ChIP-ChIP_HESCs_Human1.10246810
153FLI1_21867929_ChIP-Seq_TH2_Mouse1.10227166
154GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.10093126
155EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.10020414
156FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.09608189
157* E2F1_21310950_ChIP-Seq_MCF-7_Human1.09541225
158TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.09395959
159SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.09068326
160ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08947251
161TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.08686172
162EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.08492180
163OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.08091630
164JARID2_20064375_ChIP-Seq_MESCs_Mouse1.07569693
165* NANOG_16518401_ChIP-PET_MESCs_Mouse1.07043737
166MYCN_18555785_ChIP-Seq_MESCs_Mouse1.06713807
167NFE2_27457419_Chip-Seq_LIVER_Mouse1.06602565
168THAP11_20581084_ChIP-Seq_MESCs_Mouse1.05578167
169TBX3_20139965_ChIP-Seq_MESCs_Mouse1.04497273
170* FOXM1_26456572_ChIP-Seq_MCF-7_Human1.04486520
171CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.04357471
172TBX3_20139965_ChIP-Seq_ESCs_Mouse1.04115053
173ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.03917045
174SMAD3_21741376_ChIP-Seq_HESCs_Human1.03630778
175E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.02227374
176TAL1_26923725_Chip-Seq_HPCs_Mouse1.01334230
177FOXA1_21572438_ChIP-Seq_LNCaP_Human1.01062508
178CDX2_19796622_ChIP-Seq_MESCs_Mouse1.00730635
179CDX2_22108803_ChIP-Seq_LS180_Human1.00611803
180SMAD3_21741376_ChIP-Seq_ESCs_Human0.99828342
181IRF1_19129219_ChIP-ChIP_H3396_Human0.99532501
182P53_22387025_ChIP-Seq_ESCs_Mouse0.97768318
183SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.97678775
184* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.95975919
185SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.95480778
186CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.92475909
187MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.90107626
188* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.89412039
189KLF4_18555785_ChIP-Seq_MESCs_Mouse0.89162636
190* TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.88638094
191RING1B_27294783_Chip-Seq_NPCs_Mouse0.88303177
192EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.87359737
193BMI1_23680149_ChIP-Seq_NPCS_Mouse0.85227945
194* ZFX_18555785_ChIP-Seq_MESCs_Mouse0.83303307

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000537_abnormal_urethra_morphology3.51359753
2MP0004133_heterotaxia3.26639601
3MP0003283_abnormal_digestive_organ3.15963737
4MP0010030_abnormal_orbit_morphology2.91277139
5MP0003880_abnormal_central_pattern2.84409033
6MP0008877_abnormal_DNA_methylation2.61712455
7MP0003195_calcinosis2.60115989
8MP0002653_abnormal_ependyma_morphology2.55059651
9MP0003122_maternal_imprinting2.52508566
10MP0009053_abnormal_anal_canal2.40329568
11MP0008995_early_reproductive_senescence2.38469145
12MP0005551_abnormal_eye_electrophysiolog2.37975815
13MP0003890_abnormal_embryonic-extraembry2.36078174
14MP0000569_abnormal_digit_pigmentation2.33976854
15MP0003119_abnormal_digestive_system2.31277947
16MP0003121_genomic_imprinting2.28922862
17MP0003315_abnormal_perineum_morphology2.23026827
18MP0001968_abnormal_touch/_nociception2.15797774
19MP0002697_abnormal_eye_size2.03710621
20MP0009046_muscle_twitch2.01524356
21MP0003941_abnormal_skin_development2.01028816
22MP0003693_abnormal_embryo_hatching1.98419919
23MP0003111_abnormal_nucleus_morphology1.94770781
24MP0003787_abnormal_imprinting1.87225605
25MP0003646_muscle_fatigue1.84451951
26MP0001486_abnormal_startle_reflex1.83544633
27MP0002736_abnormal_nociception_after1.83485493
28MP0005253_abnormal_eye_physiology1.82839402
29MP0009745_abnormal_behavioral_response1.82067206
30MP0002638_abnormal_pupillary_reflex1.79729442
31MP0005423_abnormal_somatic_nervous1.78292623
32MP0005646_abnormal_pituitary_gland1.74935723
33MP0002084_abnormal_developmental_patter1.74930088
34MP0010094_abnormal_chromosome_stability1.74531193
35MP0008057_abnormal_DNA_replication1.74312982
36MP0003786_premature_aging1.73944753
37MP0004142_abnormal_muscle_tone1.69544563
38MP0002272_abnormal_nervous_system1.68031385
39MP0004957_abnormal_blastocyst_morpholog1.67000896
40MP0003077_abnormal_cell_cycle1.63907644
41MP0003942_abnormal_urinary_system1.62309696
42MP0004043_abnormal_pH_regulation1.61733795
43MP0003123_paternal_imprinting1.61266421
44MP0002085_abnormal_embryonic_tissue1.59210408
45MP0000462_abnormal_digestive_system1.57703323
46MP0003136_yellow_coat_color1.57569944
47MP0002735_abnormal_chemical_nociception1.55587205
48MP0001485_abnormal_pinna_reflex1.54805451
49MP0001286_abnormal_eye_development1.52711258
50MP0002249_abnormal_larynx_morphology1.52211391
51MP0008932_abnormal_embryonic_tissue1.51535886
52MP0008058_abnormal_DNA_repair1.51533236
53MP0000631_abnormal_neuroendocrine_gland1.51029159
54MP0000427_abnormal_hair_cycle1.47352729
55MP0008789_abnormal_olfactory_epithelium1.46875329
56MP0000383_abnormal_hair_follicle1.46421564
57MP0002572_abnormal_emotion/affect_behav1.45185388
58MP0002557_abnormal_social/conspecific_i1.43789284
59MP0001501_abnormal_sleep_pattern1.43000582
60MP0002282_abnormal_trachea_morphology1.42327805
61MP0004215_abnormal_myocardial_fiber1.41420055
62MP0002734_abnormal_mechanical_nocicepti1.40448897
63MP0003937_abnormal_limbs/digits/tail_de1.39948757
64MP0004197_abnormal_fetal_growth/weight/1.39328397
65MP0001986_abnormal_taste_sensitivity1.38898721
66MP0000428_abnormal_craniofacial_morphol1.38898561
67MP0003635_abnormal_synaptic_transmissio1.38878487
68MP0004147_increased_porphyrin_level1.38348995
69MP0001984_abnormal_olfaction1.38081356
70MP0000534_abnormal_ureter_morphology1.36387942
71MP0000778_abnormal_nervous_system1.36270514
72MP0002876_abnormal_thyroid_physiology1.36113624
73MP0001849_ear_inflammation1.35408774
74MP0000350_abnormal_cell_proliferation1.32880793
75MP0010352_gastrointestinal_tract_polyps1.31937367
76MP0005076_abnormal_cell_differentiation1.30956330
77MP0002064_seizures1.30849851
78MP0000049_abnormal_middle_ear1.29787146
79MP0003861_abnormal_nervous_system1.29447442
80MP0005174_abnormal_tail_pigmentation1.29274603
81MP0001293_anophthalmia1.28472191
82MP0001529_abnormal_vocalization1.27488633
83MP0006276_abnormal_autonomic_nervous1.27121227
84MP0002928_abnormal_bile_duct1.27009427
85MP0002938_white_spotting1.26931135
86MP0003755_abnormal_palate_morphology1.25462362
87MP0002233_abnormal_nose_morphology1.25411895
88MP0005386_behavior/neurological_phenoty1.25218576
89MP0004924_abnormal_behavior1.25218576
90MP0002067_abnormal_sensory_capabilities1.25164048
91MP0001697_abnormal_embryo_size1.24519058
92MP0001970_abnormal_pain_threshold1.23971216
93MP0003566_abnormal_cell_adhesion1.22691412
94MP0008872_abnormal_physiological_respon1.20079797
95MP0001730_embryonic_growth_arrest1.19744206
96MP0002063_abnormal_learning/memory/cond1.19509306
97MP0002184_abnormal_innervation1.19085602
98MP0001672_abnormal_embryogenesis/_devel1.18001890
99MP0005380_embryogenesis_phenotype1.18001890
100MP0004145_abnormal_muscle_electrophysio1.17824223
101MP0005394_taste/olfaction_phenotype1.16535165
102MP0005499_abnormal_olfactory_system1.16535165
103MP0005623_abnormal_meninges_morphology1.16413189
104MP0003115_abnormal_respiratory_system1.15322608
105MP0010386_abnormal_urinary_bladder1.12819600
106MP0001188_hyperpigmentation1.12563790
107MP0002751_abnormal_autonomic_nervous1.12545804
108MP0002752_abnormal_somatic_nervous1.12017493
109MP0002160_abnormal_reproductive_system1.11228007
110MP0002092_abnormal_eye_morphology1.10767732
111MP0005377_hearing/vestibular/ear_phenot1.10699813
112MP0003878_abnormal_ear_physiology1.10699813
113MP0006072_abnormal_retinal_apoptosis1.09147868
114MP0002932_abnormal_joint_morphology1.08781939
115MP0000566_synostosis1.07803416
116MP0003935_abnormal_craniofacial_develop1.07118302
117MP0003936_abnormal_reproductive_system1.07034489
118MP0003385_abnormal_body_wall1.06660546
119MP0005195_abnormal_posterior_eye1.06460551
120MP0003705_abnormal_hypodermis_morpholog1.06029647
121MP0002116_abnormal_craniofacial_bone1.05527665
122MP0000762_abnormal_tongue_morphology1.04977217
123MP0009703_decreased_birth_body1.04218532
124MP0005167_abnormal_blood-brain_barrier1.03976985
125MP0000026_abnormal_inner_ear1.03238034
126MP0002909_abnormal_adrenal_gland1.03116468
127MP0000432_abnormal_head_morphology1.03016801
128MP0008007_abnormal_cellular_replicative1.02756339
129MP0002733_abnormal_thermal_nociception1.01872739
130MP0002111_abnormal_tail_morphology1.01806249
131MP0002234_abnormal_pharynx_morphology1.00589843
132MP0000733_abnormal_muscle_development1.00012101
133MP0003698_abnormal_male_reproductive0.98326727
134MP0005248_abnormal_Harderian_gland0.98243073
135MP0003984_embryonic_growth_retardation0.97939113
136MP0001905_abnormal_dopamine_level0.97856779
137MP0002086_abnormal_extraembryonic_tissu0.97181350
138MP0002088_abnormal_embryonic_growth/wei0.96852222
139MP0002102_abnormal_ear_morphology0.96812670
140MP0000955_abnormal_spinal_cord0.96800035
141MP0001502_abnormal_circadian_rhythm0.96632947
142MP0002882_abnormal_neuron_morphology0.95566127
143MP0005187_abnormal_penis_morphology0.94504349
144MP0004085_abnormal_heartbeat0.93827950
145MP0001963_abnormal_hearing_physiology0.93466290
146MP0002098_abnormal_vibrissa_morphology0.91237220
147MP0005171_absent_coat_pigmentation0.90313878
148MP0010678_abnormal_skin_adnexa0.90134653
149MP0006292_abnormal_olfactory_placode0.89873938
150MP0004270_analgesia0.89812828
151MP0000467_abnormal_esophagus_morphology0.89699407
152MP0002138_abnormal_hepatobiliary_system0.88518730
153MP0002837_dystrophic_cardiac_calcinosis0.87974053
154MP0003718_maternal_effect0.86697328
155MP0001929_abnormal_gametogenesis0.86673947
156MP0004742_abnormal_vestibular_system0.86633553
157MP0002080_prenatal_lethality0.85939761
158MP0002081_perinatal_lethality0.85260456
159MP0005645_abnormal_hypothalamus_physiol0.84733090
160MP0000750_abnormal_muscle_regeneration0.84688599
161MP0002796_impaired_skin_barrier0.83864568
162MP0005193_abnormal_anterior_eye0.83162443
163MP0002229_neurodegeneration0.82297515
164MP0002210_abnormal_sex_determination0.82228356
165MP0003137_abnormal_impulse_conducting0.81297077
166MP0000647_abnormal_sebaceous_gland0.79838254
167MP0001324_abnormal_eye_pigmentation0.78646036
168MP0002095_abnormal_skin_pigmentation0.78548936
169MP0001299_abnormal_eye_distance/0.77228783
170MP0004885_abnormal_endolymph0.76168018
171MP0003938_abnormal_ear_development0.76127240
172MP0010234_abnormal_vibrissa_follicle0.75914904
173MP0003567_abnormal_fetal_cardiomyocyte0.75422384
174MP0005391_vision/eye_phenotype0.73562660
175MP0004272_abnormal_basement_membrane0.73304823
176MP0002177_abnormal_outer_ear0.71520508

Predicted human phenotypes

RankGene SetZ-score
1Nuclear cataract (HP:0100018)5.41795835
2Pancreatic cysts (HP:0001737)4.29825815
3Molar tooth sign on MRI (HP:0002419)4.09907736
4Abnormality of midbrain morphology (HP:0002418)4.09907736
5Abnormal sex determination (HP:0012244)4.07103517
6Sex reversal (HP:0012245)4.07103517
7Pancreatic fibrosis (HP:0100732)4.05604218
8Abnormality of the labia minora (HP:0012880)4.04787461
9Ependymoma (HP:0002888)3.80776352
10Nephronophthisis (HP:0000090)3.64390506
11Zonular cataract (HP:0010920)3.64382449
12Genetic anticipation (HP:0003743)3.64100673
13Hyperventilation (HP:0002883)3.58976510
14Absent/shortened dynein arms (HP:0200106)3.42930113
15Dynein arm defect of respiratory motile cilia (HP:0012255)3.42930113
16Chronic hepatic failure (HP:0100626)3.36340628
17Abnormality of the renal medulla (HP:0100957)3.33923000
18Medial flaring of the eyebrow (HP:0010747)3.24929206
19Progressive cerebellar ataxia (HP:0002073)3.21133881
20Abnormality of the astrocytes (HP:0100707)3.04284229
21Astrocytoma (HP:0009592)3.04284229
22Abnormality of the renal cortex (HP:0011035)3.02238983
23Congenital stationary night blindness (HP:0007642)3.01443168
24Cystic liver disease (HP:0006706)3.00285671
25Gaze-evoked nystagmus (HP:0000640)2.99955729
26Supernumerary spleens (HP:0009799)2.97857008
27Renal duplication (HP:0000075)2.93623654
28Birth length less than 3rd percentile (HP:0003561)2.92682789
29Abnormal respiratory epithelium morphology (HP:0012253)2.91586135
30Abnormal respiratory motile cilium morphology (HP:0005938)2.91586135
31Abnormal ciliary motility (HP:0012262)2.89330251
32Tubular atrophy (HP:0000092)2.83613328
33Failure to thrive in infancy (HP:0001531)2.71816104
34Attenuation of retinal blood vessels (HP:0007843)2.71497478
35Aplasia/Hypoplasia of the tibia (HP:0005772)2.65376434
36Genital tract atresia (HP:0001827)2.64241597
37Abnormal respiratory motile cilium physiology (HP:0012261)2.62950714
38Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.62103463
39Colon cancer (HP:0003003)2.60649957
40Shawl scrotum (HP:0000049)2.60592990
41Type II lissencephaly (HP:0007260)2.59200446
42Nephrogenic diabetes insipidus (HP:0009806)2.58122419
43Tubulointerstitial nephritis (HP:0001970)2.55665873
44Urethral obstruction (HP:0000796)2.54479607
45Vaginal atresia (HP:0000148)2.52569796
46Breast hypoplasia (HP:0003187)2.50571716
47Aplasia/Hypoplasia of the tongue (HP:0010295)2.49226971
48Hypoplastic labia majora (HP:0000059)2.48332974
49Febrile seizures (HP:0002373)2.47514818
50Abolished electroretinogram (ERG) (HP:0000550)2.45425082
51Patellar aplasia (HP:0006443)2.43583381
52Abnormal number of incisors (HP:0011064)2.42654669
53Abnormality of the labia majora (HP:0012881)2.40750607
54Polydipsia (HP:0001959)2.39971119
55Abnormal drinking behavior (HP:0030082)2.39971119
56Absent speech (HP:0001344)2.39553786
57Decreased central vision (HP:0007663)2.39234198
58Broad-based gait (HP:0002136)2.38508678
59Degeneration of anterior horn cells (HP:0002398)2.34424879
60Abnormality of the anterior horn cell (HP:0006802)2.34424879
61Aplasia/hypoplasia of the humerus (HP:0006507)2.34191671
62Neoplasm of the oral cavity (HP:0100649)2.33205698
63Short humerus (HP:0005792)2.32239394
64Cerebellar dysplasia (HP:0007033)2.30483480
65Congenital hepatic fibrosis (HP:0002612)2.29338346
66Inability to walk (HP:0002540)2.26115334
67Rib fusion (HP:0000902)2.25590019
68Bony spicule pigmentary retinopathy (HP:0007737)2.24393995
69Glioma (HP:0009733)2.23834730
70Poor coordination (HP:0002370)2.23303764
71Postaxial foot polydactyly (HP:0001830)2.23068426
72Aplasia/Hypoplasia of the patella (HP:0006498)2.20944315
73Anencephaly (HP:0002323)2.20719559
74Medulloblastoma (HP:0002885)2.19665689
75Sclerocornea (HP:0000647)2.19227975
76Hyperacusis (HP:0010780)2.19136463
77Rhinitis (HP:0012384)2.17013726
78Absent forearm bone (HP:0003953)2.16576471
79Aplasia involving forearm bones (HP:0009822)2.16576471
80Decreased circulating renin level (HP:0003351)2.15406692
81Selective tooth agenesis (HP:0001592)2.14313303
82Protruding tongue (HP:0010808)2.14077812
83Abnormality of the labia (HP:0000058)2.13237226
84Absent radius (HP:0003974)2.12934166
85Esophageal atresia (HP:0002032)2.11438591
86Male pseudohermaphroditism (HP:0000037)2.10245221
87Bifid tongue (HP:0010297)2.09778193
88Missing ribs (HP:0000921)2.08864304
89Fair hair (HP:0002286)2.05663777
90Labial hypoplasia (HP:0000066)2.04494191
91Renal cortical cysts (HP:0000803)2.04295040
92Oligodactyly (hands) (HP:0001180)2.03639099
93Stenosis of the external auditory canal (HP:0000402)2.01466703
94Congenital sensorineural hearing impairment (HP:0008527)2.00759747
95Abnormality of abdominal situs (HP:0011620)1.99657723
96Abdominal situs inversus (HP:0003363)1.99657723
97Furrowed tongue (HP:0000221)1.99347654
98Maternal diabetes (HP:0009800)1.99321976
99Small hand (HP:0200055)1.99210896
100Retinal dysplasia (HP:0007973)1.99081335
101Vertebral fusion (HP:0002948)1.97218143
102Postaxial hand polydactyly (HP:0001162)1.97062941
103Preaxial hand polydactyly (HP:0001177)1.96520883
104Focal seizures (HP:0007359)1.95743243
105Widely spaced teeth (HP:0000687)1.95484712
106Focal motor seizures (HP:0011153)1.93949068
107True hermaphroditism (HP:0010459)1.93633226
108Facial hemangioma (HP:0000329)1.93547493
109Abnormality of macular pigmentation (HP:0008002)1.92267422
110Lissencephaly (HP:0001339)1.92107968
111Horseshoe kidney (HP:0000085)1.91467761
112Abnormality of the right ventricle (HP:0001707)1.91139131
113Progressive inability to walk (HP:0002505)1.90214052
114Chorioretinal atrophy (HP:0000533)1.89433094
115Hypoplastic female external genitalia (HP:0012815)1.88331956
116Abnormality of the diencephalon (HP:0010662)1.88004030
117Ectopic kidney (HP:0000086)1.87660678
118Morphological abnormality of the middle ear (HP:0008609)1.87476136
119Polyphagia (HP:0002591)1.87205260
120Clumsiness (HP:0002312)1.87154547
121Aplasia/Hypoplasia of the uvula (HP:0010293)1.86509538
122Tubulointerstitial abnormality (HP:0001969)1.84044917
123Bile duct proliferation (HP:0001408)1.83704554
124Abnormal biliary tract physiology (HP:0012439)1.83704554
125Abnormal rod and cone electroretinograms (HP:0008323)1.83578042
126Polyuria (HP:0000103)1.83277223
127Bilateral microphthalmos (HP:0007633)1.83027059
128Spinal muscular atrophy (HP:0007269)1.81971288
129Drooling (HP:0002307)1.81577364
130Absent thumb (HP:0009777)1.81372727
131Narrow forehead (HP:0000341)1.80936961
132Occipital encephalocele (HP:0002085)1.80665623
133Short foot (HP:0001773)1.80312290
134Specific learning disability (HP:0001328)1.79932470
135Anophthalmia (HP:0000528)1.78988286
136Methylmalonic acidemia (HP:0002912)1.78357016
137Sleep apnea (HP:0010535)1.77152740
138Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.76716264
139Biliary tract neoplasm (HP:0100574)1.76024319
140Abnormality of alanine metabolism (HP:0010916)1.75394725
141Hyperalaninemia (HP:0003348)1.75394725
142Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.75394725
143Hemiparesis (HP:0001269)1.73769141
144Bronchomalacia (HP:0002780)1.73400661
145Astigmatism (HP:0000483)1.73329504
146Vesicoureteral reflux (HP:0000076)1.73300925
147Carpal bone hypoplasia (HP:0001498)1.72142499
148Gastrointestinal atresia (HP:0002589)1.71876203
149Volvulus (HP:0002580)1.71484636
150Atrophy/Degeneration involving motor neurons (HP:0007373)1.70884311
151Large for gestational age (HP:0001520)1.70659908
152Limb dystonia (HP:0002451)1.70605604
153Cupped ear (HP:0000378)1.70479802
154Pendular nystagmus (HP:0012043)1.68991717
155Neoplasm of striated muscle (HP:0009728)1.67018115
156Long palpebral fissure (HP:0000637)1.66883353
157Hemivertebrae (HP:0002937)1.66602548
158Gait imbalance (HP:0002141)1.66540951
159High anterior hairline (HP:0009890)1.66481573
160Highly arched eyebrow (HP:0002553)1.65970030
161Optic nerve hypoplasia (HP:0000609)1.65950535
162Pachygyria (HP:0001302)1.65900772
163Thyroid-stimulating hormone excess (HP:0002925)1.65559064
164Short 4th metacarpal (HP:0010044)1.65099682
165Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.65099682
166Dyskinesia (HP:0100660)1.63574887
167Abnormality of the ischium (HP:0003174)1.63495965
168Septo-optic dysplasia (HP:0100842)1.63407659
169Broad thumb (HP:0011304)1.63302577
170Abnormality of the salivary glands (HP:0010286)1.62667119
171Aplasia/Hypoplasia of the 5th finger (HP:0006262)1.62251977
172Abnormality of chromosome segregation (HP:0002916)1.62142099
173Morphological abnormality of the inner ear (HP:0011390)1.61368362
174Meckel diverticulum (HP:0002245)1.61329865
175Abnormality of the ileum (HP:0001549)1.61148190
176Malignant gastrointestinal tract tumors (HP:0006749)1.59922044
177Gastrointestinal carcinoma (HP:0002672)1.59922044
178Shallow orbits (HP:0000586)1.59524353
179Spina bifida occulta (HP:0003298)1.59215959
180Coronal craniosynostosis (HP:0004440)1.59175225
181Impulsivity (HP:0100710)1.58261870
182Esotropia (HP:0000565)1.57993848
183Intestinal atresia (HP:0011100)1.57677185
184Overriding aorta (HP:0002623)1.57107792
185Mesomelia (HP:0003027)1.56678532
186Aplasia/Hypoplasia of the sternum (HP:0006714)1.55368829
187Congenital primary aphakia (HP:0007707)1.54867976
188Concave nail (HP:0001598)1.54649564
189Preaxial foot polydactyly (HP:0001841)1.54290597
190Adenoma sebaceum (HP:0009720)1.53960060
191Angiofibromas (HP:0010615)1.53960060

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK6.99039913
2EPHB24.40880503
3EPHA23.20199145
4RPS6KB22.72990730
5CASK2.54622007
6KSR12.50266846
7UHMK12.43740798
8DYRK22.41006891
9CDK122.35479596
10MAP3K102.33112645
11PAK62.22436613
12MAP4K22.17720506
13ADRBK22.13603436
14MARK12.12432203
15PASK2.11037468
16GRK12.01722124
17MAP3K41.98645809
18MAP2K61.96839500
19PNCK1.87445858
20LATS21.80854761
21PINK11.80373810
22NUAK11.76226655
23INSRR1.75311121
24WNK41.74264609
25MAP2K21.73357852
26TTK1.72948079
27WEE11.72707234
28BCR1.71815903
29PAK31.71194087
30MAPK131.70800607
31CDC71.70779078
32STK391.69146790
33SCYL21.67635126
34DYRK31.64079442
35NTRK31.59615667
36ERBB21.59131802
37TNIK1.58650338
38OXSR11.57126747
39TRIM281.50000464
40MKNK21.49765987
41BMPR1B1.44564801
42WNK31.41827009
43IRAK21.40656132
44BUB11.40498161
45ZAK1.39744936
46CHEK21.33265490
47PAK41.31675995
48BRD41.30272170
49TIE11.30228281
50MET1.29538868
51NEK21.27258828
52ATR1.25419110
53PAK21.24145582
54ICK1.23845505
55PLK11.21716798
56TLK11.20200136
57MAP2K71.19285817
58EPHA41.18095784
59TESK21.15920953
60AKT31.14992221
61ACVR1B1.12701582
62NEK11.08702664
63AURKA1.08475936
64CDK191.07569884
65MAPKAPK31.07128427
66DDR21.06792657
67PRKCE1.01613314
68ADRBK11.00161822
69TAOK30.97660525
70CDK180.97522374
71PRKCG0.95993864
72CSNK1G20.95248544
73TGFBR10.94208842
74LATS10.93542820
75FGFR20.92676190
76MTOR0.91316898
77DAPK20.89818292
78PDGFRA0.89424684
79CDK150.89268104
80CDK70.87344427
81PIK3CA0.85215003
82PLK30.84048867
83PRKCI0.84040726
84FER0.82285779
85CDK140.81936186
86SGK20.80892595
87CDK11A0.80720918
88PTK20.79940460
89CSNK1G30.76896678
90CAMK1G0.76839905
91CHEK10.76252288
92PTK2B0.76040214
93CSNK1G10.75060978
94STK38L0.73935421
95CDK20.73061617
96SIK30.72910608
97BRAF0.72865336
98TYRO30.72820619
99CAMK1D0.72248425
100MAP3K90.72029029
101PDK20.71871956
102MUSK0.71631391
103OBSCN0.70727712
104CSNK1E0.69573338
105PLK20.69444513
106ATM0.69308943
107AURKB0.68006741
108STK30.66447319
109SRPK10.65163223
110LIMK10.64848465
111RIPK10.64394035
112PKN10.62327197
113STK380.62053948
114FGFR10.61629957
115SGK4940.61089419
116SGK2230.61089419
117WNK10.60912994
118BRSK20.60852950
119NLK0.60064906
120CDK30.59357149
121DYRK1A0.59331898
122TSSK60.59289983
123STK110.59228200
124ERBB40.58545956
125CAMK2A0.56845529
126PHKG20.56226382
127PHKG10.56226382
128CAMK10.55660839
129VRK10.54867558
130PAK10.54280686
131CDK10.54000526
132TESK10.53379980
133EIF2AK20.52077463
134MAP2K10.51601787
135NEK60.51220925
136TAF10.50806928
137MAP3K70.49106412
138STK240.48342858
139MINK10.47220673
140MAP3K80.47146669
141PRKAA20.47088310
142CSNK1A1L0.47081818
143MAPK90.46822579
144PRKAA10.46716863
145PRKACA0.46063216
146NTRK20.45876617
147MKNK10.45854462
148CSNK1D0.45644701
149NTRK10.45234268
150ERBB30.44653457
151AKT20.44388269
152MAPK150.42308546
153PLK40.41473521
154ALK0.41307356
155PRKG10.40119076
156RPS6KA10.40015244
157AKT10.39521868
158PRKDC0.38941602
159MST40.38419462
160CSNK1A10.36351847
161PRKCH0.35103917
162MAP2K40.34837015
163CHUK0.33828544
164CDK50.33477312
165SIK20.33097185
166PRKCQ0.32432065
167CAMK40.31751700
168SGK10.31033837
169PRKCZ0.30827960

Predicted pathways (KEGG)

RankGene SetZ-score
1Basal cell carcinoma_Homo sapiens_hsa052173.18210696
2Mismatch repair_Homo sapiens_hsa034303.04837553
3Phototransduction_Homo sapiens_hsa047442.82323868
4RNA transport_Homo sapiens_hsa030132.64282049
5DNA replication_Homo sapiens_hsa030302.61365014
6Hippo signaling pathway_Homo sapiens_hsa043902.60136710
7Hedgehog signaling pathway_Homo sapiens_hsa043402.59947962
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.49407143
9Spliceosome_Homo sapiens_hsa030402.47225524
10Nitrogen metabolism_Homo sapiens_hsa009102.42732430
11Cell cycle_Homo sapiens_hsa041102.40952645
12Butanoate metabolism_Homo sapiens_hsa006502.33432940
13RNA polymerase_Homo sapiens_hsa030202.31101151
14Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045502.29985112
15Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.24891505
16mRNA surveillance pathway_Homo sapiens_hsa030152.14807601
17Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.09247179
18Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.07128157
19One carbon pool by folate_Homo sapiens_hsa006702.00485094
20Taste transduction_Homo sapiens_hsa047422.00001731
21Notch signaling pathway_Homo sapiens_hsa043301.96013296
22Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.95844861
23Fanconi anemia pathway_Homo sapiens_hsa034601.86649664
24Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.84316535
25Nucleotide excision repair_Homo sapiens_hsa034201.82077818
26Morphine addiction_Homo sapiens_hsa050321.79004191
27Ribosome_Homo sapiens_hsa030101.78770854
28Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.69851503
29Ether lipid metabolism_Homo sapiens_hsa005651.69014817
30Basal transcription factors_Homo sapiens_hsa030221.68767517
31Wnt signaling pathway_Homo sapiens_hsa043101.66465300
32Axon guidance_Homo sapiens_hsa043601.63859826
33Base excision repair_Homo sapiens_hsa034101.63140688
34Sulfur relay system_Homo sapiens_hsa041221.61180211
35Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.60718919
36Adherens junction_Homo sapiens_hsa045201.56884330
37Glutamatergic synapse_Homo sapiens_hsa047241.56320268
38Tight junction_Homo sapiens_hsa045301.56277131
39ABC transporters_Homo sapiens_hsa020101.55018362
40p53 signaling pathway_Homo sapiens_hsa041151.54307995
41Primary bile acid biosynthesis_Homo sapiens_hsa001201.54069179
42Propanoate metabolism_Homo sapiens_hsa006401.53440188
43GABAergic synapse_Homo sapiens_hsa047271.52668742
44Olfactory transduction_Homo sapiens_hsa047401.52595082
45Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.50354428
46Circadian entrainment_Homo sapiens_hsa047131.48953745
47RNA degradation_Homo sapiens_hsa030181.48943271
48Circadian rhythm_Homo sapiens_hsa047101.48917213
49Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.48408056
50Tryptophan metabolism_Homo sapiens_hsa003801.44669222
51MicroRNAs in cancer_Homo sapiens_hsa052061.44532413
52Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.44074199
53Steroid hormone biosynthesis_Homo sapiens_hsa001401.43483702
54Insulin secretion_Homo sapiens_hsa049111.42283905
55Pyrimidine metabolism_Homo sapiens_hsa002401.42115418
56TGF-beta signaling pathway_Homo sapiens_hsa043501.41340109
57Small cell lung cancer_Homo sapiens_hsa052221.40059189
58Colorectal cancer_Homo sapiens_hsa052101.36804651
59Dorso-ventral axis formation_Homo sapiens_hsa043201.36234458
602-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.35770939
61Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.35012840
62Regulation of autophagy_Homo sapiens_hsa041401.29481225
63Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.27745861
64Homologous recombination_Homo sapiens_hsa034401.25954149
65Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.25618828
66Chemical carcinogenesis_Homo sapiens_hsa052041.24947058
67Endometrial cancer_Homo sapiens_hsa052131.24760211
68Serotonergic synapse_Homo sapiens_hsa047261.20190047
69Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.18821681
70Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.18296759
71Retinol metabolism_Homo sapiens_hsa008301.16718741
72beta-Alanine metabolism_Homo sapiens_hsa004101.16048234
73Bladder cancer_Homo sapiens_hsa052191.15731936
74Salivary secretion_Homo sapiens_hsa049701.14385078
75Oocyte meiosis_Homo sapiens_hsa041141.12576834
76Pathways in cancer_Homo sapiens_hsa052001.08296373
77Histidine metabolism_Homo sapiens_hsa003401.06854229
78Ovarian steroidogenesis_Homo sapiens_hsa049131.06179706
79Systemic lupus erythematosus_Homo sapiens_hsa053221.04235553
80Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.02771001
81Calcium signaling pathway_Homo sapiens_hsa040201.01427476
82Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.00381269
83Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.99579365
84Caffeine metabolism_Homo sapiens_hsa002320.99400558
85Alcoholism_Homo sapiens_hsa050340.99242133
86Melanogenesis_Homo sapiens_hsa049160.99003554
87Dopaminergic synapse_Homo sapiens_hsa047280.97812773
88Non-homologous end-joining_Homo sapiens_hsa034500.97228822
89Proteoglycans in cancer_Homo sapiens_hsa052050.97207976
90Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.91728897
91Thyroid cancer_Homo sapiens_hsa052160.90721588
92Lysine degradation_Homo sapiens_hsa003100.90031011
93Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.88916014
94cAMP signaling pathway_Homo sapiens_hsa040240.87171447
95Peroxisome_Homo sapiens_hsa041460.86957922
96Vascular smooth muscle contraction_Homo sapiens_hsa042700.86067133
97Glycerolipid metabolism_Homo sapiens_hsa005610.85779534
98HTLV-I infection_Homo sapiens_hsa051660.83154553
99mTOR signaling pathway_Homo sapiens_hsa041500.82163468
100ECM-receptor interaction_Homo sapiens_hsa045120.81943698
101Cardiac muscle contraction_Homo sapiens_hsa042600.79607768
102Melanoma_Homo sapiens_hsa052180.79358865
103Cholinergic synapse_Homo sapiens_hsa047250.79339158
104Renal cell carcinoma_Homo sapiens_hsa052110.76817553
105Gastric acid secretion_Homo sapiens_hsa049710.74370825
106Arachidonic acid metabolism_Homo sapiens_hsa005900.74039904
107Viral myocarditis_Homo sapiens_hsa054160.73413565
108Protein export_Homo sapiens_hsa030600.73199159
109ErbB signaling pathway_Homo sapiens_hsa040120.72327981
110Thyroid hormone signaling pathway_Homo sapiens_hsa049190.71463970
111Long-term depression_Homo sapiens_hsa047300.71111469
112Oxytocin signaling pathway_Homo sapiens_hsa049210.69628327
113Amphetamine addiction_Homo sapiens_hsa050310.68574680
114Epstein-Barr virus infection_Homo sapiens_hsa051690.68471362
115Prostate cancer_Homo sapiens_hsa052150.67975587
116Viral carcinogenesis_Homo sapiens_hsa052030.67950053
117Aldosterone synthesis and secretion_Homo sapiens_hsa049250.66040036
118Huntingtons disease_Homo sapiens_hsa050160.65541814
119Renin secretion_Homo sapiens_hsa049240.65418702
120Pancreatic secretion_Homo sapiens_hsa049720.61833632
121VEGF signaling pathway_Homo sapiens_hsa043700.61202986
122Rap1 signaling pathway_Homo sapiens_hsa040150.61043063
123Nicotine addiction_Homo sapiens_hsa050330.60955054
124Proteasome_Homo sapiens_hsa030500.60516596
125Focal adhesion_Homo sapiens_hsa045100.59894060
126Purine metabolism_Homo sapiens_hsa002300.58694775
127Biosynthesis of amino acids_Homo sapiens_hsa012300.58031898
128Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.57536624
129Transcriptional misregulation in cancer_Homo sapiens_hsa052020.56733129
130Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.55679089
131Maturity onset diabetes of the young_Homo sapiens_hsa049500.54618539
132Cocaine addiction_Homo sapiens_hsa050300.54486545
133PI3K-Akt signaling pathway_Homo sapiens_hsa041510.53679719
134Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.51452398
135cGMP-PKG signaling pathway_Homo sapiens_hsa040220.50741212
136Cysteine and methionine metabolism_Homo sapiens_hsa002700.50345365
137Oxidative phosphorylation_Homo sapiens_hsa001900.49936506
138Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.49758604
139Central carbon metabolism in cancer_Homo sapiens_hsa052300.49434683
140Glycerophospholipid metabolism_Homo sapiens_hsa005640.49212259
141Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.46851650
142Fat digestion and absorption_Homo sapiens_hsa049750.46561794
143Gap junction_Homo sapiens_hsa045400.46522499
144Fatty acid degradation_Homo sapiens_hsa000710.45945814
145Pentose and glucuronate interconversions_Homo sapiens_hsa000400.44703253
146Sphingolipid metabolism_Homo sapiens_hsa006000.44543946
147Chronic myeloid leukemia_Homo sapiens_hsa052200.42788750
148Type II diabetes mellitus_Homo sapiens_hsa049300.42705573
149Regulation of actin cytoskeleton_Homo sapiens_hsa048100.40919020
150Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.40313001
151Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.39728204
152Bile secretion_Homo sapiens_hsa049760.39422134
153Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.38595098
154Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.36797538
155Dilated cardiomyopathy_Homo sapiens_hsa054140.36754620
156Steroid biosynthesis_Homo sapiens_hsa001000.36265890
157Metabolic pathways_Homo sapiens_hsa011000.34902547
158Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.32896510
159Pancreatic cancer_Homo sapiens_hsa052120.31171373
160Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.30954475
161Estrogen signaling pathway_Homo sapiens_hsa049150.30710695
162Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.29486875
163Linoleic acid metabolism_Homo sapiens_hsa005910.28950532
164Ras signaling pathway_Homo sapiens_hsa040140.28024600
165Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.23333879
166Tyrosine metabolism_Homo sapiens_hsa003500.21880249
167Non-small cell lung cancer_Homo sapiens_hsa052230.21240162
168Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.20813775
169Choline metabolism in cancer_Homo sapiens_hsa052310.20660094
170alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.20549763
171Selenocompound metabolism_Homo sapiens_hsa004500.18063047
172Glioma_Homo sapiens_hsa052140.17923666

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