POU1F1

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





Description: This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axon ensheathment in central nervous system (GO:0032291)6.23857823
2central nervous system myelination (GO:0022010)6.23857823
3limb bud formation (GO:0060174)4.66780842
4import into cell (GO:0098657)4.42049082
5lateral sprouting from an epithelium (GO:0060601)4.23760299
6keratinocyte development (GO:0003334)4.19582385
7L-amino acid import (GO:0043092)4.14147349
8retina layer formation (GO:0010842)4.08201490
9long-chain fatty acid biosynthetic process (GO:0042759)4.07984821
10presynaptic membrane assembly (GO:0097105)4.00485769
11presynaptic membrane organization (GO:0097090)3.85873462
12regulation of timing of cell differentiation (GO:0048505)3.81314962
13negative regulation of neurotransmitter secretion (GO:0046929)3.79767593
14cerebral cortex radially oriented cell migration (GO:0021799)3.75281689
15positive regulation of protein kinase C signaling (GO:0090037)3.71102483
16negative regulation of neurotransmitter transport (GO:0051589)3.53576390
17myelination (GO:0042552)3.51282059
18righting reflex (GO:0060013)3.50521919
19ensheathment of neurons (GO:0007272)3.44963036
20axon ensheathment (GO:0008366)3.44963036
21cranial nerve morphogenesis (GO:0021602)3.41616292
22neuron remodeling (GO:0016322)3.33804313
23short-term memory (GO:0007614)3.32926893
24organ growth (GO:0035265)3.31922178
25amino acid import (GO:0043090)3.29420952
26fatty acid elongation (GO:0030497)3.27946779
27mesenchymal cell differentiation involved in kidney development (GO:0072161)3.26565889
28mesenchymal cell differentiation involved in renal system development (GO:2001012)3.26565889
29neuron cell-cell adhesion (GO:0007158)3.26345800
30regulation of development, heterochronic (GO:0040034)3.19953999
31cranial nerve development (GO:0021545)3.18871277
32negative regulation of execution phase of apoptosis (GO:1900118)3.18174304
33negative regulation of protein localization to cell surface (GO:2000009)3.14643590
34polyol transport (GO:0015791)3.14441583
35cornea development in camera-type eye (GO:0061303)3.11575904
36neuronal action potential propagation (GO:0019227)3.09148756
37cellular response to epinephrine stimulus (GO:0071872)3.01984567
38postsynaptic membrane organization (GO:0001941)2.98022462
39negative regulation of peptidyl-threonine phosphorylation (GO:0010801)2.89881152
40response to epinephrine (GO:0071871)2.85874836
41eye photoreceptor cell differentiation (GO:0001754)2.85692770
42photoreceptor cell differentiation (GO:0046530)2.85692770
43head development (GO:0060322)2.85222918
44transmission of nerve impulse (GO:0019226)2.83684484
45negative regulation of homotypic cell-cell adhesion (GO:0034111)2.82405509
46negative regulation of synaptic transmission, GABAergic (GO:0032229)2.82065770
47regulation of platelet aggregation (GO:0090330)2.80360265
48reflex (GO:0060004)2.78449920
49response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.75640903
50regulation of pigment cell differentiation (GO:0050932)2.75059499
51oligodendrocyte differentiation (GO:0048709)2.74979703
52otic vesicle formation (GO:0030916)2.74148697
53positive regulation of cellular amine metabolic process (GO:0033240)2.70405773
54positive regulation of action potential (GO:0045760)2.67200756
55positive regulation of meiosis (GO:0045836)2.66210600
56histone H2B ubiquitination (GO:0033523)2.65569452
57ionotropic glutamate receptor signaling pathway (GO:0035235)2.65023163
58dendritic spine morphogenesis (GO:0060997)2.64396713
59neuron recognition (GO:0008038)2.63813580
60positive regulation of meiotic cell cycle (GO:0051446)2.61867554
61sympathetic nervous system development (GO:0048485)2.60373496
62calcium ion import (GO:0070509)2.53051311
63substrate-independent telencephalic tangential interneuron migration (GO:0021843)2.51239661
64substrate-independent telencephalic tangential migration (GO:0021826)2.51239661
65regulation of collateral sprouting (GO:0048670)2.50849265
66cell proliferation in forebrain (GO:0021846)2.48908719
67branch elongation of an epithelium (GO:0060602)2.48354957
68gamma-aminobutyric acid signaling pathway (GO:0007214)2.47295459
69anatomical structure arrangement (GO:0048532)2.46357973
70cerebral cortex cell migration (GO:0021795)2.46137402
71neuronal ion channel clustering (GO:0045161)2.44248676
72mesonephros development (GO:0001823)2.43537479
73negative regulation of transcription by competitive promoter binding (GO:0010944)2.42573365
74glutamate receptor signaling pathway (GO:0007215)2.42384164
75adult feeding behavior (GO:0008343)2.41904772
76cell-cell signaling involved in cell fate commitment (GO:0045168)2.41385228
77peripheral nervous system axon ensheathment (GO:0032292)2.41382547
78myelination in peripheral nervous system (GO:0022011)2.41382547
79developmental induction (GO:0031128)2.39767074
80regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.38791102
81mesenchymal cell differentiation (GO:0048762)2.38721026
82nonmotile primary cilium assembly (GO:0035058)2.37694600
83cranial nerve structural organization (GO:0021604)2.37216607
84astrocyte development (GO:0014002)2.35605721
85male sex determination (GO:0030238)2.34744854
86forebrain neuron differentiation (GO:0021879)2.34065010
87protein localization to synapse (GO:0035418)2.30196707
88forebrain neuron development (GO:0021884)2.28932515
89positive regulation of synapse assembly (GO:0051965)2.28001880
90negative regulation of astrocyte differentiation (GO:0048712)2.27686395
91cell morphogenesis involved in neuron differentiation (GO:0048667)2.27536001
92opioid receptor signaling pathway (GO:0038003)2.27411152
93glycine transport (GO:0015816)2.26702195
94positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.26355686
95glycerophospholipid catabolic process (GO:0046475)2.26167270
96positive regulation of odontogenesis (GO:0042482)2.26049465
97response to redox state (GO:0051775)2.24166538
98thyroid gland development (GO:0030878)2.23927577
99inner ear morphogenesis (GO:0042472)2.23124518
100protein palmitoylation (GO:0018345)2.22030154

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human3.42060990
2GBX2_23144817_ChIP-Seq_PC3_Human3.40369713
3JARID2_20064375_ChIP-Seq_MESCs_Mouse2.85010985
4EZH2_27304074_Chip-Seq_ESCs_Mouse2.58241221
5EED_16625203_ChIP-ChIP_MESCs_Mouse2.57613184
6SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.55628124
7SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.45142723
8TAF15_26573619_Chip-Seq_HEK293_Human2.35906407
9SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.33665481
10SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.33040543
11ZFP57_27257070_Chip-Seq_ESCs_Mouse2.32162511
12EZH2_18974828_ChIP-Seq_MESCs_Mouse2.29504558
13RNF2_18974828_ChIP-Seq_MESCs_Mouse2.29504558
14CBX2_27304074_Chip-Seq_ESCs_Mouse2.24370353
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.21552029
16BMI1_23680149_ChIP-Seq_NPCS_Mouse2.19746569
17AR_21572438_ChIP-Seq_LNCaP_Human2.14671931
18JARID2_20075857_ChIP-Seq_MESCs_Mouse2.12632752
19VDR_22108803_ChIP-Seq_LS180_Human2.10428870
20CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.09222311
21GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.92223828
22EZH2_27294783_Chip-Seq_ESCs_Mouse1.89003042
23SUZ12_27294783_Chip-Seq_ESCs_Mouse1.87108375
24RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.84407718
25RNF2_27304074_Chip-Seq_ESCs_Mouse1.83958835
26CDX2_19796622_ChIP-Seq_MESCs_Mouse1.81859147
27MTF2_20144788_ChIP-Seq_MESCs_Mouse1.80004100
28TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.79775575
29PCGF2_27294783_Chip-Seq_ESCs_Mouse1.77574793
30PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.77148235
31IGF1R_20145208_ChIP-Seq_DFB_Human1.76748419
32SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.72103109
33RNF2_27304074_Chip-Seq_NSC_Mouse1.70904837
34FLI1_27457419_Chip-Seq_LIVER_Mouse1.67635483
35PCGF2_27294783_Chip-Seq_NPCs_Mouse1.66886591
36SUZ12_27294783_Chip-Seq_NPCs_Mouse1.66225665
37P300_19829295_ChIP-Seq_ESCs_Human1.65533575
38* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.65017970
39GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.63790861
40* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.60492851
41SMAD3_21741376_ChIP-Seq_EPCs_Human1.54176694
42PIAS1_25552417_ChIP-Seq_VCAP_Human1.53016820
43NANOG_18555785_Chip-Seq_ESCs_Mouse1.51075917
44TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.50313889
45NFE2_27457419_Chip-Seq_LIVER_Mouse1.49011322
46CTBP2_25329375_ChIP-Seq_LNCAP_Human1.46455248
47CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.46440054
48* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.45903241
49EZH2_27294783_Chip-Seq_NPCs_Mouse1.45751939
50EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.43981402
51WT1_19549856_ChIP-ChIP_CCG9911_Human1.42823858
52ER_23166858_ChIP-Seq_MCF-7_Human1.41305083
53E2F1_18555785_Chip-Seq_ESCs_Mouse1.38665404
54SUZ12_18555785_Chip-Seq_ESCs_Mouse1.38359495
55SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.36951296
56* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.35909667
57CMYC_18555785_Chip-Seq_ESCs_Mouse1.35346701
58P53_22387025_ChIP-Seq_ESCs_Mouse1.34994844
59SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33013617
60SMAD4_21799915_ChIP-Seq_A2780_Human1.32131968
61* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.31842852
62EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.31759186
63POU5F1_16153702_ChIP-ChIP_HESCs_Human1.31296367
64TP53_18474530_ChIP-ChIP_U2OS_Human1.31134851
65SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.30775032
66P300_18555785_Chip-Seq_ESCs_Mouse1.30024295
67FUS_26573619_Chip-Seq_HEK293_Human1.29156593
68STAT3_18555785_Chip-Seq_ESCs_Mouse1.28652805
69RUNX1_27457419_Chip-Seq_LIVER_Mouse1.22960655
70DROSHA_22980978_ChIP-Seq_HELA_Human1.22246460
71TP53_16413492_ChIP-PET_HCT116_Human1.20785539
72IKZF1_21737484_ChIP-ChIP_HCT116_Human1.19961450
73OCT4_18555785_Chip-Seq_ESCs_Mouse1.18979161
74NMYC_18555785_Chip-Seq_ESCs_Mouse1.18786039
75* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18533591
76* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.17270231
77ZNF217_24962896_ChIP-Seq_MCF-7_Human1.15682526
78* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.15425184
79SOX2_18555785_Chip-Seq_ESCs_Mouse1.15349921
80BP1_19119308_ChIP-ChIP_Hs578T_Human1.14248983
81KLF4_18555785_Chip-Seq_ESCs_Mouse1.12863825
82TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12257016
83POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.12257016
84RUNX2_22187159_ChIP-Seq_PCA_Human1.09939025
85NR3C1_21868756_ChIP-Seq_MCF10A_Human1.08810084
86REST_21632747_ChIP-Seq_MESCs_Mouse1.08620627
87STAT3_23295773_ChIP-Seq_U87_Human1.08520071
88VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.08493306
89PU1_27457419_Chip-Seq_LIVER_Mouse1.08476424
90* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.08464761
91CRX_20693478_ChIP-Seq_RETINA_Mouse1.07991749
92CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.07380093
93ARNT_22903824_ChIP-Seq_MCF-7_Human1.06828536
94ZFX_18555785_Chip-Seq_ESCs_Mouse1.06643690
95TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.05016395
96ESRRB_18555785_Chip-Seq_ESCs_Mouse1.05002084
97CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03725567
98RING1B_27294783_Chip-Seq_ESCs_Mouse1.02939185
99SMAD1_18555785_Chip-Seq_ESCs_Mouse1.02894874
100OCT4_21477851_ChIP-Seq_ESCs_Mouse1.02851477

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color5.13710146
2MP0002102_abnormal_ear_morphology4.60965174
3MP0000566_synostosis3.45054439
4MP0005409_darkened_coat_color3.34210472
5MP0004381_abnormal_hair_follicle3.14581360
6MP0001188_hyperpigmentation3.14407079
7MP0003880_abnormal_central_pattern2.87149146
8MP0006292_abnormal_olfactory_placode2.67451169
9MP0004742_abnormal_vestibular_system2.61452261
10MP0001486_abnormal_startle_reflex2.42888165
11MP0000920_abnormal_myelination2.42448922
12MP0003938_abnormal_ear_development2.38206302
13MP0008260_abnormal_autophagy2.24965135
14MP0005171_absent_coat_pigmentation2.11808483
15MP0003950_abnormal_plasma_membrane2.08791071
16MP0002249_abnormal_larynx_morphology1.85979429
17MP0009046_muscle_twitch1.82546898
18MP0000026_abnormal_inner_ear1.78631905
19MP0009250_abnormal_appendicular_skeleto1.72800115
20MP0004134_abnormal_chest_morphology1.70792622
21MP0004142_abnormal_muscle_tone1.68742038
22MP0002277_abnormal_respiratory_mucosa1.67314642
23MP0009745_abnormal_behavioral_response1.65617228
24MP0001968_abnormal_touch/_nociception1.60819604
25MP0003690_abnormal_glial_cell1.60060423
26MP0005423_abnormal_somatic_nervous1.59406827
27MP0002272_abnormal_nervous_system1.59302751
28MP0001963_abnormal_hearing_physiology1.59143152
29MP0000049_abnormal_middle_ear1.58039644
30MP0001485_abnormal_pinna_reflex1.57701570
31MP0004859_abnormal_synaptic_plasticity1.48850734
32MP0001905_abnormal_dopamine_level1.47074178
33MP0000462_abnormal_digestive_system1.46275438
34MP0003635_abnormal_synaptic_transmissio1.46066792
35MP0002064_seizures1.41112363
36MP0003937_abnormal_limbs/digits/tail_de1.40578060
37MP0000778_abnormal_nervous_system1.40359991
38MP0002067_abnormal_sensory_capabilities1.37572626
39MP0005551_abnormal_eye_electrophysiolog1.33888441
40MP0005646_abnormal_pituitary_gland1.32578643
41MP0002735_abnormal_chemical_nociception1.31437402
42MP0001986_abnormal_taste_sensitivity1.31417325
43MP0001440_abnormal_grooming_behavior1.31372332
44MP0005451_abnormal_body_composition1.31336968
45MP0005645_abnormal_hypothalamus_physiol1.25829152
46MP0000383_abnormal_hair_follicle1.23737142
47MP0002572_abnormal_emotion/affect_behav1.20882379
48MP0004270_analgesia1.20610815
49MP0000015_abnormal_ear_pigmentation1.19584289
50MP0003385_abnormal_body_wall1.18575437
51MP0002752_abnormal_somatic_nervous1.18509127
52MP0005379_endocrine/exocrine_gland_phen1.18388973
53MP0000762_abnormal_tongue_morphology1.18197892
54MP0001346_abnormal_lacrimal_gland1.14537239
55MP0004885_abnormal_endolymph1.13176516
56MP0003941_abnormal_skin_development1.10145501
57MP0002557_abnormal_social/conspecific_i1.07974456
58MP0008995_early_reproductive_senescence1.07781375
59MP0002184_abnormal_innervation1.03222593
60MP0004145_abnormal_muscle_electrophysio1.02634300
61MP0001970_abnormal_pain_threshold1.02498681
62MP0003724_increased_susceptibility_to1.00811670
63MP0006072_abnormal_retinal_apoptosis1.00308990
64* MP0000631_abnormal_neuroendocrine_gland0.98139214
65MP0003315_abnormal_perineum_morphology0.97487473
66MP0002177_abnormal_outer_ear0.97160415
67MP0002734_abnormal_mechanical_nocicepti0.96859157
68MP0002063_abnormal_learning/memory/cond0.96060898
69MP0005253_abnormal_eye_physiology0.92951780
70MP0000647_abnormal_sebaceous_gland0.92515601
71MP0002098_abnormal_vibrissa_morphology0.91565551
72MP0003634_abnormal_glial_cell0.89462480
73* MP0002882_abnormal_neuron_morphology0.89433692
74MP0002733_abnormal_thermal_nociception0.89024461
75MP0002736_abnormal_nociception_after0.88424855
76MP0001664_abnormal_digestion0.88110088
77MP0009379_abnormal_foot_pigmentation0.88075639
78MP0002229_neurodegeneration0.87753555
79MP0001727_abnormal_embryo_implantation0.87416751
80MP0002233_abnormal_nose_morphology0.87371075
81MP0005195_abnormal_posterior_eye0.85966438
82MP0000467_abnormal_esophagus_morphology0.83787251
83MP0005174_abnormal_tail_pigmentation0.83407415
84MP0006276_abnormal_autonomic_nervous0.81836116
85MP0001501_abnormal_sleep_pattern0.79234177
86MP0010678_abnormal_skin_adnexa0.78432591
87MP0005310_abnormal_salivary_gland0.77865506
88MP0005248_abnormal_Harderian_gland0.76618257
89MP0000579_abnormal_nail_morphology0.76059123
90MP0002066_abnormal_motor_capabilities/c0.75289539
91MP0000955_abnormal_spinal_cord0.73911298
92MP0002751_abnormal_autonomic_nervous0.70356508
93MP0002116_abnormal_craniofacial_bone0.69939147
94MP0003755_abnormal_palate_morphology0.69155900
95MP0008569_lethality_at_weaning0.68737367
96MP0005257_abnormal_intraocular_pressure0.68096203
97MP0002876_abnormal_thyroid_physiology0.67589511
98MP0001340_abnormal_eyelid_morphology0.63836094
99MP0003879_abnormal_hair_cell0.63662616
100MP0003787_abnormal_imprinting0.63523630

Predicted human phenotypes

RankGene SetZ-score
1Aplasia cutis congenita (HP:0001057)4.23220881
2Dynein arm defect of respiratory motile cilia (HP:0012255)3.90994093
3Absent/shortened dynein arms (HP:0200106)3.90994093
4Parakeratosis (HP:0001036)3.66489150
5Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.64937313
6White forelock (HP:0002211)3.59975361
7Patchy hypopigmentation of hair (HP:0011365)3.52653153
8Nasolacrimal duct obstruction (HP:0000579)3.52152099
9Morphological abnormality of the middle ear (HP:0008609)3.25983947
10Humeroradial synostosis (HP:0003041)3.14524868
11Synostosis involving the elbow (HP:0003938)3.14524868
12Abnormality of the nasal septum (HP:0000419)3.14067694
13Aplasia involving bones of the extremities (HP:0009825)3.12413942
14Aplasia involving bones of the upper limbs (HP:0009823)3.12413942
15Aplasia of the phalanges of the hand (HP:0009802)3.12413942
16Degeneration of the lateral corticospinal tracts (HP:0002314)3.07916493
17Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.07916493
18Abnormal ciliary motility (HP:0012262)3.04519561
19Abnormality of the lacrimal duct (HP:0011481)2.98532390
20Hypophosphatemic rickets (HP:0004912)2.94106668
21Alacrima (HP:0000522)2.91023891
22Partial duplication of thumb phalanx (HP:0009944)2.89362928
23Duplication of thumb phalanx (HP:0009942)2.81730605
24Lip pit (HP:0100267)2.78563803
25Osteomalacia (HP:0002749)2.77280149
26Conical tooth (HP:0000698)2.76274108
27Abnormal respiratory motile cilium physiology (HP:0012261)2.74108400
28Abnormality of the nasolacrimal system (HP:0000614)2.73960232
29Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.71617563
30Duplicated collecting system (HP:0000081)2.68549265
31Abnormality of the phalanges of the 2nd finger (HP:0009541)2.67502946
32Focal motor seizures (HP:0011153)2.66354678
33Neurofibrillary tangles (HP:0002185)2.64264380
34Abnormal respiratory epithelium morphology (HP:0012253)2.61915058
35Abnormal respiratory motile cilium morphology (HP:0005938)2.61915058
36Overfolded helix (HP:0000396)2.58844826
37Decreased lacrimation (HP:0000633)2.56698751
38Chin dimple (HP:0010751)2.56502308
39Tubulointerstitial nephritis (HP:0001970)2.53174876
40Short tibia (HP:0005736)2.49588754
41Chromosomal breakage induced by crosslinking agents (HP:0003221)2.47734376
42Decreased central vision (HP:0007663)2.42823344
43Partial duplication of the phalanx of hand (HP:0009999)2.41576254
44Aplasia/Hypoplasia of the tibia (HP:0005772)2.39877001
45Concave nail (HP:0001598)2.38612429
46Retinal dysplasia (HP:0007973)2.37387818
47Metabolic alkalosis (HP:0200114)2.35246371
48Upper limb muscle weakness (HP:0003484)2.32794399
49Abnormality of incisor morphology (HP:0011063)2.32513217
50Popliteal pterygium (HP:0009756)2.32426218
51Anomalous pulmonary venous return (HP:0010772)2.32359212
52Cupped ear (HP:0000378)2.31440762
53Fibular aplasia (HP:0002990)2.31135967
54Abnormality of secondary sexual hair (HP:0009888)2.30216197
55Abnormality of the axillary hair (HP:0100134)2.30216197
56Absent rod-and cone-mediated responses on ERG (HP:0007688)2.28963792
57Abnormality of the pulmonary veins (HP:0011718)2.26492774
58Fibular hypoplasia (HP:0003038)2.24440430
59Abnormally folded helix (HP:0008544)2.23356019
60Symphalangism affecting the phalanges of the hand (HP:0009773)2.22917717
61Abnormality of the renal collecting system (HP:0004742)2.21778618
62Onion bulb formation (HP:0003383)2.19838182
63Attenuation of retinal blood vessels (HP:0007843)2.19089952
64Mixed hearing impairment (HP:0000410)2.16531873
65Abnormality of the middle phalanges of the toes (HP:0010183)2.16117602
66Peripheral hypomyelination (HP:0007182)2.15830060
67Chromsome breakage (HP:0040012)2.15409136
68Hypomagnesemia (HP:0002917)2.12926417
69Hypoplasia of the iris (HP:0007676)2.08037588
70Pulmonary artery stenosis (HP:0004415)2.03441380
71Sex reversal (HP:0012245)2.01789201
72Abnormal sex determination (HP:0012244)2.01789201
73Abnormality of the fibula (HP:0002991)2.01724044
74Hyperventilation (HP:0002883)2.01286313
75Renal agenesis (HP:0000104)1.98030871
76Prolonged partial thromboplastin time (HP:0003645)1.97376929
77Long nose (HP:0003189)1.96345820
78Abnormality of the columella (HP:0009929)1.95388703
79Abnormality of calcium-phosphate metabolism (HP:0100530)1.94982929
80Abnormality of the corticospinal tract (HP:0002492)1.94387032
81Partial agenesis of the corpus callosum (HP:0001338)1.94294822
82Xerostomia (HP:0000217)1.93862669
83Aplasia/Hypoplasia of the fibula (HP:0006492)1.92187446
84Aplasia/hypoplasia of the uterus (HP:0008684)1.86248989
85Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.85364792
86Cutaneous finger syndactyly (HP:0010554)1.84130024
87Febrile seizures (HP:0002373)1.83712691
88Craniofacial hyperostosis (HP:0004493)1.83664030
89Abnormality of the parietal bone (HP:0002696)1.80574526
90* Absent septum pellucidum (HP:0001331)1.80094375
91Sensory axonal neuropathy (HP:0003390)1.78272539
92Split foot (HP:0001839)1.74918816
93Absent speech (HP:0001344)1.74230041
94Anophthalmia (HP:0000528)1.73913034
95Congenital sensorineural hearing impairment (HP:0008527)1.71044202
96Congenital ichthyosiform erythroderma (HP:0007431)1.70551564
97Abnormality of primary teeth (HP:0006481)1.69720825
98Recurrent corneal erosions (HP:0000495)1.68697632
99Abnormality of the antihelix (HP:0009738)1.68402755
100* Abnormality of the septum pellucidum (HP:0007375)1.67839574

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BLK6.02110664
2CASK5.10469927
3MKNK23.39630927
4TNIK3.09514044
5STK392.77798001
6PKN12.50182672
7PBK2.39936013
8INSRR2.36418944
9OXSR12.14128069
10MAP3K132.03125697
11MKNK12.02722433
12GRK11.85318942
13ADRBK21.82411735
14CLK11.48470322
15IRAK11.48234440
16PNCK1.43156828
17NTRK31.40398007
18EPHB11.34322055
19FES1.33993305
20MAP3K141.31077585
21MUSK1.28536380
22NEK61.27890009
23BMPR1B1.19332210
24CDK191.15428050
25EPHA41.15101372
26WNK41.11779560
27NUAK11.10537443
28STK161.08854946
29CAMK1G1.06677354
30FGR1.05077612
31IRAK21.03480616
32EIF2AK21.02588546
33IRAK41.01082690
34CDK30.96168212
35MAPK150.93562161
36PRPF4B0.92237133
37GRK70.91847565
38YES10.91280279
39TAOK30.91147466
40WNK10.90973035
41MAPK130.90571466
42CAMK2B0.88730351
43PRKCE0.84876137
44ROCK20.83012483
45MARK20.82613693
46UHMK10.81269578
47PIK3CA0.80744393
48BCR0.77242185
49CAMK2A0.76256131
50MARK10.75014446
51RIPK40.72925450
52PRKCQ0.72718882
53PHKG20.72569567
54PHKG10.72569567
55MAPKAPK50.71745062
56SIK20.71364729
57DMPK0.68188603
58PRKAA20.66605404
59PAK60.65393497
60FER0.64916021
61CAMK2D0.64012500
62EPHB20.63531312
63CSNK1A1L0.63182524
64DYRK20.63060331
65PRKG10.62374515
66TNK20.62030602
67DYRK1A0.60394807
68BMPR20.58594147
69CAMK10.56647802
70CAMK1D0.55606225
71NLK0.52993624
72MAP2K70.52921666
73ERBB40.52523736
74MST40.51976061
75FYN0.51924014
76TLK10.51150997
77NTRK20.50507265
78TIE10.50381642
79TXK0.50275365
80CSNK1G10.46034677
81CAMK2G0.44998701
82PIK3CG0.44882967
83IRAK30.43394576
84CSNK1G30.41710780
85CSK0.41233006
86SGK10.40834644
87PRKD10.39769438
88MST1R0.39704763
89EPHA30.38693624
90PRKD20.38365970
91DDR20.38322154
92CDC42BPA0.37103740
93FGFR20.37045968
94LYN0.36558001
95ADRBK10.35795873
96PRKACA0.35446703
97STK110.34374504
98CDK50.34163397
99CSNK1G20.34147657
100PAK30.32717634

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047442.71499576
2Nicotine addiction_Homo sapiens_hsa050332.53241591
3Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.33853741
4Ether lipid metabolism_Homo sapiens_hsa005652.31856255
5Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.31348431
6Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.29202566
7Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.21604277
8Fatty acid elongation_Homo sapiens_hsa000622.09792616
9Steroid biosynthesis_Homo sapiens_hsa001002.09520354
10Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.07568336
11Sphingolipid metabolism_Homo sapiens_hsa006002.05128788
12Axon guidance_Homo sapiens_hsa043601.99917112
13Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.91917631
14Glutamatergic synapse_Homo sapiens_hsa047241.86933582
15Serotonergic synapse_Homo sapiens_hsa047261.84130827
16Morphine addiction_Homo sapiens_hsa050321.77453129
17Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.77316731
18Linoleic acid metabolism_Homo sapiens_hsa005911.75727407
19Taste transduction_Homo sapiens_hsa047421.63175306
20Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.58256991
21alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.54805289
22Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.53982101
23Autoimmune thyroid disease_Homo sapiens_hsa053201.49813916
24Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.47592997
25Arachidonic acid metabolism_Homo sapiens_hsa005901.46588256
26GABAergic synapse_Homo sapiens_hsa047271.44938937
27Salivary secretion_Homo sapiens_hsa049701.36265329
28Long-term depression_Homo sapiens_hsa047301.26107580
29Histidine metabolism_Homo sapiens_hsa003401.21076444
30Calcium signaling pathway_Homo sapiens_hsa040201.16971569
31Graft-versus-host disease_Homo sapiens_hsa053321.14416728
32Ras signaling pathway_Homo sapiens_hsa040141.13603069
33Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.02787458
34Staphylococcus aureus infection_Homo sapiens_hsa051501.01026715
35Circadian entrainment_Homo sapiens_hsa047131.00640876
36Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.98730544
37Vascular smooth muscle contraction_Homo sapiens_hsa042700.98357152
38Rheumatoid arthritis_Homo sapiens_hsa053230.96917787
39Pancreatic secretion_Homo sapiens_hsa049720.95740124
40Melanoma_Homo sapiens_hsa052180.92215022
41Dorso-ventral axis formation_Homo sapiens_hsa043200.91077644
42Ovarian steroidogenesis_Homo sapiens_hsa049130.90127085
43Mineral absorption_Homo sapiens_hsa049780.89855443
44Steroid hormone biosynthesis_Homo sapiens_hsa001400.89377945
45Gastric acid secretion_Homo sapiens_hsa049710.87678419
46cAMP signaling pathway_Homo sapiens_hsa040240.84579349
47Arginine and proline metabolism_Homo sapiens_hsa003300.83291936
48Renin secretion_Homo sapiens_hsa049240.81326277
49Retinol metabolism_Homo sapiens_hsa008300.80677729
50Fanconi anemia pathway_Homo sapiens_hsa034600.80511144
51Cocaine addiction_Homo sapiens_hsa050300.79029599
52Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.76640513
53Regulation of actin cytoskeleton_Homo sapiens_hsa048100.76183550
54Asthma_Homo sapiens_hsa053100.76089260
55Hematopoietic cell lineage_Homo sapiens_hsa046400.75170039
56Oxytocin signaling pathway_Homo sapiens_hsa049210.73832547
57Malaria_Homo sapiens_hsa051440.71564585
58Cholinergic synapse_Homo sapiens_hsa047250.70950308
59African trypanosomiasis_Homo sapiens_hsa051430.69964014
60Phagosome_Homo sapiens_hsa041450.69820277
61Rap1 signaling pathway_Homo sapiens_hsa040150.68333113
62Phospholipase D signaling pathway_Homo sapiens_hsa040720.66422468
63Fatty acid biosynthesis_Homo sapiens_hsa000610.65945166
64ECM-receptor interaction_Homo sapiens_hsa045120.65084972
65Wnt signaling pathway_Homo sapiens_hsa043100.64566446
66Olfactory transduction_Homo sapiens_hsa047400.63690943
67Collecting duct acid secretion_Homo sapiens_hsa049660.62821085
68Insulin secretion_Homo sapiens_hsa049110.60755526
69MAPK signaling pathway_Homo sapiens_hsa040100.60219081
70Oxidative phosphorylation_Homo sapiens_hsa001900.59961930
71Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.59863663
72Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.57897773
73Vitamin digestion and absorption_Homo sapiens_hsa049770.57756201
74Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.57583642
75Chemokine signaling pathway_Homo sapiens_hsa040620.56656520
76Dopaminergic synapse_Homo sapiens_hsa047280.55449024
77Sphingolipid signaling pathway_Homo sapiens_hsa040710.54848712
78Choline metabolism in cancer_Homo sapiens_hsa052310.53638316
79Cardiac muscle contraction_Homo sapiens_hsa042600.53515070
80Dilated cardiomyopathy_Homo sapiens_hsa054140.53289748
81Allograft rejection_Homo sapiens_hsa053300.52717987
82Non-homologous end-joining_Homo sapiens_hsa034500.52580040
83cGMP-PKG signaling pathway_Homo sapiens_hsa040220.52540756
84Melanogenesis_Homo sapiens_hsa049160.49152565
85Amphetamine addiction_Homo sapiens_hsa050310.47164935
86Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.47099071
87Basal cell carcinoma_Homo sapiens_hsa052170.45774462
88Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.45567004
89PI3K-Akt signaling pathway_Homo sapiens_hsa041510.45459662
90Other glycan degradation_Homo sapiens_hsa005110.45324007
91Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.45305506
92SNARE interactions in vesicular transport_Homo sapiens_hsa041300.44771470
93Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.44376662
94Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.44340432
95Vitamin B6 metabolism_Homo sapiens_hsa007500.43381504
96Hedgehog signaling pathway_Homo sapiens_hsa043400.43017818
97Tight junction_Homo sapiens_hsa045300.41530055
98Alzheimers disease_Homo sapiens_hsa050100.41299931
99NF-kappa B signaling pathway_Homo sapiens_hsa040640.40569091
100Renal cell carcinoma_Homo sapiens_hsa052110.39090381

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