CNTNAP3P5

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1heparin metabolic process (GO:0030202)8.40354510
2heparin biosynthetic process (GO:0030210)8.40354510
3detection of light stimulus involved in sensory perception (GO:0050962)5.84202468
4detection of light stimulus involved in visual perception (GO:0050908)5.84202468
5leukotriene biosynthetic process (GO:0019370)5.46176788
6neuronal action potential propagation (GO:0019227)5.02958581
7cell wall macromolecule catabolic process (GO:0016998)4.80627274
8neurotransmitter-gated ion channel clustering (GO:0072578)4.67260452
9response to pheromone (GO:0019236)4.46984679
10translesion synthesis (GO:0019985)4.37762866
11protein prenylation (GO:0018342)4.37176691
12prenylation (GO:0097354)4.37176691
13exocrine pancreas development (GO:0031017)4.33173833
14gamma-aminobutyric acid transport (GO:0015812)4.05539455
15cellular response to interleukin-15 (GO:0071350)4.01699126
16cell wall macromolecule metabolic process (GO:0044036)3.99906595
17viral mRNA export from host cell nucleus (GO:0046784)3.94484664
18positive regulation of cAMP-mediated signaling (GO:0043950)3.93363323
19cellular ketone body metabolic process (GO:0046950)3.87543756
20Sertoli cell development (GO:0060009)3.72584333
21G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.71321759
22regulation of cardiac muscle cell contraction (GO:0086004)3.63519786
23interkinetic nuclear migration (GO:0022027)3.54577338
24regulation of sarcomere organization (GO:0060297)3.50545848
25ketone body metabolic process (GO:1902224)3.41857561
26photoreceptor cell maintenance (GO:0045494)3.33646343
27leukotriene metabolic process (GO:0006691)3.30553426
28regulation of actin filament-based movement (GO:1903115)3.28123155
29negative regulation of translation, ncRNA-mediated (GO:0040033)3.23500628
30regulation of translation, ncRNA-mediated (GO:0045974)3.23500628
31negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.23500628
32kidney morphogenesis (GO:0060993)3.19945547
33interferon-gamma secretion (GO:0072643)3.15693577
34replication fork processing (GO:0031297)3.11184537
35icosanoid biosynthetic process (GO:0046456)3.08891744
36fatty acid derivative biosynthetic process (GO:1901570)3.08891744
37positive regulation of cardiac muscle cell differentiation (GO:2000727)3.08809384
38negative regulation of cAMP-mediated signaling (GO:0043951)3.01863187
39response to folic acid (GO:0051593)3.01692492
40positive T cell selection (GO:0043368)3.01571647
41regulation of voltage-gated calcium channel activity (GO:1901385)3.01489567
42presynaptic membrane organization (GO:0097090)3.00166002
43negative regulation of protein oligomerization (GO:0032460)3.00138677
44positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.98959113
45presynaptic membrane assembly (GO:0097105)2.97017507
46protein heterotetramerization (GO:0051290)2.93267748
47cerebral cortex radially oriented cell migration (GO:0021799)2.90769163
48keratinocyte development (GO:0003334)2.90125231
49cAMP catabolic process (GO:0006198)2.87327183
50positive regulation of interleukin-17 production (GO:0032740)2.85076207
51dentate gyrus development (GO:0021542)2.84781392
52positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.82673388
53protein sumoylation (GO:0016925)2.82010853
54cyclic nucleotide catabolic process (GO:0009214)2.81597526
55coenzyme catabolic process (GO:0009109)2.79904390
56heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.79782360
57positive regulation of muscle hypertrophy (GO:0014742)2.78380532
58positive regulation of cardiac muscle hypertrophy (GO:0010613)2.78380532
59heme transport (GO:0015886)2.75646275
60reciprocal meiotic recombination (GO:0007131)2.75623779
61reciprocal DNA recombination (GO:0035825)2.75623779
62response to interleukin-15 (GO:0070672)2.73207395
63glutamate receptor signaling pathway (GO:0007215)2.70527429
64platelet dense granule organization (GO:0060155)2.68845168
65neural tube formation (GO:0001841)2.66850842
66mitotic cell cycle arrest (GO:0071850)2.65323700
67one-carbon compound transport (GO:0019755)2.64865013
68regulation of acyl-CoA biosynthetic process (GO:0050812)2.60410278
69cytolysis (GO:0019835)2.60348423
70negative regulation of neurotransmitter transport (GO:0051589)2.59618095
71dopamine transport (GO:0015872)2.59004308
72regulation of timing of cell differentiation (GO:0048505)2.57943040
73retinal cone cell development (GO:0046549)2.56484589
74adenosine metabolic process (GO:0046085)2.56179839
75regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.54437076
76neuronal action potential (GO:0019228)2.46857272
77tryptophan catabolic process (GO:0006569)2.44397075
78indole-containing compound catabolic process (GO:0042436)2.44397075
79indolalkylamine catabolic process (GO:0046218)2.44397075
80sialylation (GO:0097503)2.43471034
81serotonin metabolic process (GO:0042428)2.41958595
82negative regulation of astrocyte differentiation (GO:0048712)2.41391171
83membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.41380843
84lens development in camera-type eye (GO:0002088)2.39331094
85cornea development in camera-type eye (GO:0061303)2.39223261
86activated T cell proliferation (GO:0050798)2.39072832
87neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.37689738
88regulation of protein glycosylation (GO:0060049)2.37541793
89phosphatidylinositol acyl-chain remodeling (GO:0036149)2.37211309
90inner ear receptor stereocilium organization (GO:0060122)2.36838943
91ionotropic glutamate receptor signaling pathway (GO:0035235)2.35383024
92regulation of B cell receptor signaling pathway (GO:0050855)2.33689507
93regulation of cAMP-mediated signaling (GO:0043949)2.33190466
94positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.32939552
95negative regulation of adaptive immune response (GO:0002820)2.32114028
96unsaturated fatty acid biosynthetic process (GO:0006636)2.31986109
97male sex determination (GO:0030238)2.29483955
98positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.28803359
99specification of organ identity (GO:0010092)2.28461690
100visual perception (GO:0007601)2.28458018

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.59781930
2BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse4.01623715
3GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.82364336
4VDR_22108803_ChIP-Seq_LS180_Human3.12892963
5HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.92695502
6IGF1R_20145208_ChIP-Seq_DFB_Human2.91752666
7GBX2_23144817_ChIP-Seq_PC3_Human2.86427288
8POU3F2_20337985_ChIP-ChIP_501MEL_Human2.71470717
9FLI1_27457419_Chip-Seq_LIVER_Mouse2.70573864
10FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.53614721
11RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.53315368
12ZFP57_27257070_Chip-Seq_ESCs_Mouse2.52737666
13CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.32666007
14EWS_26573619_Chip-Seq_HEK293_Human2.26804373
15CTBP2_25329375_ChIP-Seq_LNCAP_Human2.25441314
16P300_19829295_ChIP-Seq_ESCs_Human2.13234460
17PCGF2_27294783_Chip-Seq_ESCs_Mouse2.12215225
18ZNF274_21170338_ChIP-Seq_K562_Hela2.05674702
19TAF15_26573619_Chip-Seq_HEK293_Human2.03094975
20GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.93589317
21ER_23166858_ChIP-Seq_MCF-7_Human1.92375177
22CTBP1_25329375_ChIP-Seq_LNCAP_Human1.91688449
23FUS_26573619_Chip-Seq_HEK293_Human1.85556157
24SMAD_19615063_ChIP-ChIP_OVARY_Human1.77914263
25OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.75780214
26PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.75644690
27PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.71684369
28SMAD4_21799915_ChIP-Seq_A2780_Human1.69569349
29BCAT_22108803_ChIP-Seq_LS180_Human1.67299507
30UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.63439007
31CDX2_19796622_ChIP-Seq_MESCs_Mouse1.62430075
32STAT3_23295773_ChIP-Seq_U87_Human1.59556910
33PIAS1_25552417_ChIP-Seq_VCAP_Human1.57348868
34SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.57094563
35TCF4_23295773_ChIP-Seq_U87_Human1.56686016
36SMAD3_21741376_ChIP-Seq_EPCs_Human1.55231098
37SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.54169731
38TOP2B_26459242_ChIP-Seq_MCF-7_Human1.53434202
39EZH2_27294783_Chip-Seq_NPCs_Mouse1.52428508
40SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.51719547
41AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.49456295
42SUZ12_27294783_Chip-Seq_NPCs_Mouse1.44184222
43TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43552157
44POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.43552157
45AR_25329375_ChIP-Seq_VCAP_Human1.42838106
46KDM2B_26808549_Chip-Seq_REH_Human1.40875118
47FLI1_21867929_ChIP-Seq_TH2_Mouse1.39592641
48MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.36185777
49DROSHA_22980978_ChIP-Seq_HELA_Human1.33052355
50NANOG_18555785_Chip-Seq_ESCs_Mouse1.31390847
51FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.31214836
52ETV2_25802403_ChIP-Seq_MESCs_Mouse1.30936673
53EGR1_19032775_ChIP-ChIP_M12_Human1.30711015
54CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.30467654
55FOXA1_21572438_ChIP-Seq_LNCaP_Human1.29381937
56CRX_20693478_ChIP-Seq_RETINA_Mouse1.29351296
57TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.28412391
58EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.26797179
59P53_22387025_ChIP-Seq_ESCs_Mouse1.25736981
60NFE2_27457419_Chip-Seq_LIVER_Mouse1.25373816
61IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.23867115
62CBP_20019798_ChIP-Seq_JUKART_Human1.23867115
63STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.23167318
64PCGF2_27294783_Chip-Seq_NPCs_Mouse1.22544299
65RUNX2_22187159_ChIP-Seq_PCA_Human1.22511591
66E2F1_18555785_Chip-Seq_ESCs_Mouse1.19710575
67SMAD4_21741376_ChIP-Seq_EPCs_Human1.18046612
68SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.17133031
69PRDM14_20953172_ChIP-Seq_ESCs_Human1.16655053
70CBX2_27304074_Chip-Seq_ESCs_Mouse1.14864276
71REST_21632747_ChIP-Seq_MESCs_Mouse1.12200883
72SOX2_21211035_ChIP-Seq_LN229_Gbm1.10828612
73SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.10694631
74TCF4_22108803_ChIP-Seq_LS180_Human1.10232385
75TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.09904143
76TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.09427200
77SMAD3_21741376_ChIP-Seq_ESCs_Human1.09027932
78EZH2_27304074_Chip-Seq_ESCs_Mouse1.08949373
79OCT4_21477851_ChIP-Seq_ESCs_Mouse1.08398061
80SUZ12_18555785_Chip-Seq_ESCs_Mouse1.08160051
81EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.07868613
82GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.05558527
83ARNT_22903824_ChIP-Seq_MCF-7_Human1.04823656
84NR3C1_21868756_ChIP-Seq_MCF10A_Human1.04821397
85SOX2_19829295_ChIP-Seq_ESCs_Human1.04775432
86NANOG_19829295_ChIP-Seq_ESCs_Human1.04775432
87FOXA1_25329375_ChIP-Seq_VCAP_Human1.04133097
88FOXA1_27270436_Chip-Seq_PROSTATE_Human1.04133097
89TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.03013128
90STAT3_18555785_Chip-Seq_ESCs_Mouse1.02871883
91MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.02571843
92SALL1_21062744_ChIP-ChIP_HESCs_Human1.00977667
93CMYC_18555785_Chip-Seq_ESCs_Mouse1.00129927
94P300_18555785_Chip-Seq_ESCs_Mouse0.99572872
95AR_21572438_ChIP-Seq_LNCaP_Human0.98998626
96CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.98002878
97AUTS2_25519132_ChIP-Seq_293T-REX_Human0.97543087
98FOXM1_26456572_ChIP-Seq_MCF-7_Human0.97471611
99RBPJ_22232070_ChIP-Seq_NCS_Mouse0.97444614
100TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97315821

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002009_preneoplasia4.75780973
2MP0003880_abnormal_central_pattern3.56731840
3MP0003878_abnormal_ear_physiology3.20770087
4MP0005377_hearing/vestibular/ear_phenot3.20770087
5MP0005645_abnormal_hypothalamus_physiol3.04711342
6MP0002736_abnormal_nociception_after2.71780182
7MP0003183_abnormal_peptide_metabolism2.65211452
8MP0009697_abnormal_copulation2.61502354
9MP0002102_abnormal_ear_morphology2.60264893
10MP0008877_abnormal_DNA_methylation2.36913783
11MP0005551_abnormal_eye_electrophysiolog2.36466691
12MP0002822_catalepsy2.27196743
13MP0001968_abnormal_touch/_nociception2.22621925
14MP0002166_altered_tumor_susceptibility2.12302871
15MP0002909_abnormal_adrenal_gland2.04943545
16MP0009046_muscle_twitch1.90797867
17MP0002163_abnormal_gland_morphology1.84251480
18MP0002638_abnormal_pupillary_reflex1.79898720
19MP0008872_abnormal_physiological_respon1.76555062
20MP0004043_abnormal_pH_regulation1.67976452
21MP0004147_increased_porphyrin_level1.66765352
22MP0002735_abnormal_chemical_nociception1.62499876
23MP0009745_abnormal_behavioral_response1.60306633
24MP0008789_abnormal_olfactory_epithelium1.57944366
25MP0000631_abnormal_neuroendocrine_gland1.55160905
26MP0005671_abnormal_response_to1.54380281
27MP0004142_abnormal_muscle_tone1.53525457
28MP0005647_abnormal_sex_gland1.48074722
29MP0005423_abnormal_somatic_nervous1.47088116
30MP0005646_abnormal_pituitary_gland1.46907384
31MP0001486_abnormal_startle_reflex1.46878995
32MP0004215_abnormal_myocardial_fiber1.46405060
33MP0002006_tumorigenesis1.45170214
34MP0006072_abnormal_retinal_apoptosis1.43799066
35MP0001984_abnormal_olfaction1.40505583
36MP0001756_abnormal_urination1.38309874
37MP0002272_abnormal_nervous_system1.38100411
38MP0002837_dystrophic_cardiac_calcinosis1.37916873
39MP0006036_abnormal_mitochondrial_physio1.37704545
40MP0008260_abnormal_autophagy1.35609993
41MP0006035_abnormal_mitochondrial_morpho1.34879494
42MP0005379_endocrine/exocrine_gland_phen1.31287810
43MP0005253_abnormal_eye_physiology1.30431291
44MP0003787_abnormal_imprinting1.26487401
45MP0000427_abnormal_hair_cycle1.24239907
46MP0005386_behavior/neurological_phenoty1.22104078
47MP0004924_abnormal_behavior1.22104078
48MP0001529_abnormal_vocalization1.21116288
49MP0002332_abnormal_exercise_endurance1.18402842
50MP0002067_abnormal_sensory_capabilities1.18301046
51MP0008569_lethality_at_weaning1.10252607
52MP0003045_fibrosis1.09427094
53MP0002064_seizures1.07271766
54MP0002693_abnormal_pancreas_physiology1.06861252
55MP0001440_abnormal_grooming_behavior1.06769938
56MP0000465_gastrointestinal_hemorrhage1.04384002
57MP0005499_abnormal_olfactory_system1.01300537
58MP0005394_taste/olfaction_phenotype1.01300537
59MP0002572_abnormal_emotion/affect_behav1.00117115
60MP0001835_abnormal_antigen_presentation0.99154030
61MP0004859_abnormal_synaptic_plasticity0.98968152
62MP0001485_abnormal_pinna_reflex0.98085147
63MP0006276_abnormal_autonomic_nervous0.97757754
64MP0003195_calcinosis0.95917008
65MP0003635_abnormal_synaptic_transmissio0.95368304
66MP0010368_abnormal_lymphatic_system0.94597365
67MP0001873_stomach_inflammation0.93382031
68MP0003137_abnormal_impulse_conducting0.89096795
69MP0009764_decreased_sensitivity_to0.87471595
70MP0003121_genomic_imprinting0.86628102
71MP0001661_extended_life_span0.85972581
72MP0002078_abnormal_glucose_homeostasis0.85540057
73MP0006082_CNS_inflammation0.84728337
74MP0000230_abnormal_systemic_arterial0.84722706
75MP0000026_abnormal_inner_ear0.83902727
76MP0004885_abnormal_endolymph0.83100722
77MP0001502_abnormal_circadian_rhythm0.82740575
78MP0005367_renal/urinary_system_phenotyp0.81851741
79MP0000516_abnormal_urinary_system0.81851741
80MP0005448_abnormal_energy_balance0.80856248
81MP0010386_abnormal_urinary_bladder0.80536471
82MP0009115_abnormal_fat_cell0.80322631
83MP0005334_abnormal_fat_pad0.79620690
84MP0002229_neurodegeneration0.78940636
85MP0006138_congestive_heart_failure0.78909644
86MP0001544_abnormal_cardiovascular_syste0.74220307
87MP0005385_cardiovascular_system_phenoty0.74220307
88MP0001970_abnormal_pain_threshold0.72387997
89MP0002557_abnormal_social/conspecific_i0.71660246
90MP0005410_abnormal_fertilization0.71320751
91MP0004130_abnormal_muscle_cell0.71254866
92MP0001986_abnormal_taste_sensitivity0.71178461
93MP0004145_abnormal_muscle_electrophysio0.70724569
94MP0003879_abnormal_hair_cell0.69618324
95MP0003698_abnormal_male_reproductive0.69288947
96MP0002063_abnormal_learning/memory/cond0.68858280
97MP0002752_abnormal_somatic_nervous0.68449989
98MP0004019_abnormal_vitamin_homeostasis0.67866017
99MP0004134_abnormal_chest_morphology0.67550744
100MP0002168_other_aberrant_phenotype0.67432049

Predicted human phenotypes

RankGene SetZ-score
1Hyperinsulinemic hypoglycemia (HP:0000825)5.17182178
2Abolished electroretinogram (ERG) (HP:0000550)4.48278475
3Hypoplastic nipples (HP:0002557)3.91259668
4Bilateral sensorineural hearing impairment (HP:0008619)3.69625703
5Hyperventilation (HP:0002883)3.57409270
6Ketoacidosis (HP:0001993)3.52591153
7Enlarged penis (HP:0000040)3.47266694
8Gaze-evoked nystagmus (HP:0000640)3.42691305
9Congenital stationary night blindness (HP:0007642)3.24914461
10Dyskinesia (HP:0100660)3.16069309
11Febrile seizures (HP:0002373)3.13124625
12Abnormal rod and cone electroretinograms (HP:0008323)3.12886375
13Palpebral edema (HP:0100540)3.12113669
14Wide intermamillary distance (HP:0006610)3.12092031
15Attenuation of retinal blood vessels (HP:0007843)2.97082779
16Pancreatic islet-cell hyperplasia (HP:0004510)2.94509044
17Inability to walk (HP:0002540)2.78175151
18Optic neuritis (HP:0100653)2.73124748
19Retrobulbar optic neuritis (HP:0100654)2.73124748
20Medial flaring of the eyebrow (HP:0010747)2.72564701
21Bony spicule pigmentary retinopathy (HP:0007737)2.71756219
22Hypoglycemic coma (HP:0001325)2.69043610
23J-shaped sella turcica (HP:0002680)2.63763449
24Amyotrophic lateral sclerosis (HP:0007354)2.62226865
25Broad-based gait (HP:0002136)2.59487304
26Fair hair (HP:0002286)2.59011228
27Congenital sensorineural hearing impairment (HP:0008527)2.55503895
28Abnormality of alanine metabolism (HP:0010916)2.49551448
29Hyperalaninemia (HP:0003348)2.49551448
30Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.49551448
31Ketosis (HP:0001946)2.45862287
32Gonadotropin excess (HP:0000837)2.39144024
33Short chin (HP:0000331)2.33978164
34Progressive inability to walk (HP:0002505)2.32846534
35Renal hypoplasia (HP:0000089)2.28324722
36Hypoglycemic seizures (HP:0002173)2.25063693
37Hypoproteinemia (HP:0003075)2.23486383
38Absent rod-and cone-mediated responses on ERG (HP:0007688)2.23481324
39Aplasia/Hypoplasia of the fovea (HP:0008060)2.20863955
40Hypoplasia of the fovea (HP:0007750)2.20863955
41Rib fusion (HP:0000902)2.20590833
42Orchitis (HP:0100796)2.18522646
43Hyperglycemia (HP:0003074)2.18366843
44Panhypogammaglobulinemia (HP:0003139)2.18065186
45Myositis (HP:0100614)2.14160975
46Gait imbalance (HP:0002141)2.10388999
47Choroideremia (HP:0001139)2.10208040
48Retinal dysplasia (HP:0007973)2.09641288
49Reduced subcutaneous adipose tissue (HP:0003758)2.08986017
50Hemiplegia (HP:0002301)2.07883935
51Abnormal respiratory epithelium morphology (HP:0012253)2.07874451
52Abnormal respiratory motile cilium morphology (HP:0005938)2.07874451
53Scotoma (HP:0000575)2.07546734
54Abnormality of DNA repair (HP:0003254)2.04744802
55Tented upper lip vermilion (HP:0010804)2.03574198
56Abnormal ciliary motility (HP:0012262)2.02977967
57Absent speech (HP:0001344)2.02622074
58Tinnitus (HP:0000360)2.02545315
59Congenital primary aphakia (HP:0007707)2.02356626
60Abnormality of the renal cortex (HP:0011035)2.01931899
61Elevated erythrocyte sedimentation rate (HP:0003565)2.00422017
62Zonular cataract (HP:0010920)1.99514689
63Abnormality of macular pigmentation (HP:0008002)1.97947445
64Abnormality of endocrine pancreas physiology (HP:0012093)1.93065527
65Abnormality of the pancreatic islet cells (HP:0006476)1.93065527
66Encephalitis (HP:0002383)1.92484467
67Syncope (HP:0001279)1.91377461
68Abnormality of the metopic suture (HP:0005556)1.90464346
69Decreased central vision (HP:0007663)1.89295831
70Microretrognathia (HP:0000308)1.89268362
71Abnormal drinking behavior (HP:0030082)1.86761219
72Polydipsia (HP:0001959)1.86761219
73Generalized hypopigmentation of hair (HP:0011358)1.85588065
74Hemiparesis (HP:0001269)1.84846463
75Progressive microcephaly (HP:0000253)1.83754514
76Pancytopenia (HP:0001876)1.83670227
77Keratoconjunctivitis (HP:0001096)1.83544120
78Calf muscle hypertrophy (HP:0008981)1.79223699
79Nephrogenic diabetes insipidus (HP:0009806)1.78877239
80Absent/shortened dynein arms (HP:0200106)1.78856671
81Dynein arm defect of respiratory motile cilia (HP:0012255)1.78856671
82Genital tract atresia (HP:0001827)1.78388020
83Acanthocytosis (HP:0001927)1.78349882
84Bulbous nose (HP:0000414)1.77942728
85Pheochromocytoma (HP:0002666)1.75914443
86Keratoconjunctivitis sicca (HP:0001097)1.74700355
87Bifid scrotum (HP:0000048)1.72845965
88Joint hemorrhage (HP:0005261)1.72301495
89Chronic mucocutaneous candidiasis (HP:0002728)1.72224653
90Recurrent cutaneous fungal infections (HP:0011370)1.72224653
91Central scotoma (HP:0000603)1.71316450
92Abnormality of the fovea (HP:0000493)1.70552179
93Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.69843225
94Abnormality of midbrain morphology (HP:0002418)1.69629020
95Molar tooth sign on MRI (HP:0002419)1.69629020
96Widely spaced teeth (HP:0000687)1.69527754
97Vaginal atresia (HP:0000148)1.69297829
98Astigmatism (HP:0000483)1.67190792
99Poor eye contact (HP:0000817)1.66751392
100Genetic anticipation (HP:0003743)1.66667071

Predicted kinase interactions (KEA)

RankGene SetZ-score
1INSRR6.44103383
2WNK35.42535020
3FRK4.46011759
4NUAK12.92577360
5PIK3CG2.84980380
6PTK2B2.04767898
7KIT1.71506993
8FLT31.71430822
9ACVR1B1.69403810
10CCNB11.69371629
11WNK41.65970984
12MAP3K41.65663140
13MAP4K21.60740765
14STK391.57377662
15MARK11.56924493
16MKNK21.44456694
17OXSR11.43463118
18MAP2K71.39512727
19LATS11.39201146
20KDR1.38170595
21UHMK11.30166000
22ADRBK21.27247112
23TNIK1.26238235
24CSF1R1.23402029
25GRK11.18166107
26BMPR1B1.17448800
27DAPK11.12112103
28BCKDK1.10495789
29MAP3K101.07674916
30JAK31.06452743
31CSNK1G20.99359671
32MAPK130.97763402
33BLK0.96090672
34MAP4K10.95509438
35GRK50.94003613
36AKT30.93931434
37DAPK20.93026653
38GRK70.90610102
39PHKG20.90289236
40PHKG10.90289236
41VRK10.89919480
42MKNK10.88979322
43MYLK0.88889701
44MAPKAPK30.88507820
45OBSCN0.86735860
46TAOK30.85343429
47PINK10.85173424
48HIPK20.85033124
49STK30.84796597
50PRKCE0.84793121
51IRAK10.84772950
52LYN0.78673884
53CAMKK20.76195974
54ADRBK10.75209945
55PNCK0.74835030
56MAP3K60.74179612
57PKN10.72041586
58CAMK1G0.70768248
59NTRK20.70199394
60CAMK2A0.64110461
61SGK20.62964246
62SYK0.62863448
63CSNK1D0.60433164
64NTRK30.60026439
65SIK20.59668523
66PRKCH0.58491489
67TAF10.57438077
68YES10.57090167
69LCK0.55725758
70TXK0.53520029
71TGFBR10.53295222
72CSNK1G10.53221094
73PLK20.52293020
74TIE10.51706068
75EPHA40.51191144
76EPHA30.51180675
77TEC0.49767465
78PRKCQ0.49313566
79CSNK1G30.48422000
80CAMK10.46912117
81PRKG10.46196074
82DYRK20.44272089
83DYRK1A0.44121835
84MAP3K120.43457683
85ROCK10.41828039
86FGFR20.41435024
87CAMK40.41141005
88PRKCG0.38919605
89ZAK0.38292309
90CDK190.37285787
91PRKACA0.37237728
92RPS6KA60.36801550
93SGK4940.36441329
94SGK2230.36441329
95STK110.36153811
96PRKD10.34565515
97DYRK1B0.34002012
98PRKAA10.33438582
99CDK50.32250615
100BTK0.30951744

Predicted pathways (KEGG)

RankGene SetZ-score
1Regulation of autophagy_Homo sapiens_hsa041403.27431278
2Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.89746055
3Nitrogen metabolism_Homo sapiens_hsa009102.60470088
4Phototransduction_Homo sapiens_hsa047442.54584265
5Olfactory transduction_Homo sapiens_hsa047402.39803630
6Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.20881380
7Fanconi anemia pathway_Homo sapiens_hsa034602.12874209
8Glutamatergic synapse_Homo sapiens_hsa047241.97935730
9Amphetamine addiction_Homo sapiens_hsa050311.93913680
10Renin secretion_Homo sapiens_hsa049241.91062398
11Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.89931821
12Asthma_Homo sapiens_hsa053101.84420628
13Taste transduction_Homo sapiens_hsa047421.83280708
14Nicotine addiction_Homo sapiens_hsa050331.72907262
15Linoleic acid metabolism_Homo sapiens_hsa005911.70175017
16Protein export_Homo sapiens_hsa030601.69907729
17Morphine addiction_Homo sapiens_hsa050321.68802945
18Butanoate metabolism_Homo sapiens_hsa006501.68247489
19alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.62156423
20Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.62148786
21N-Glycan biosynthesis_Homo sapiens_hsa005101.46363788
22Tryptophan metabolism_Homo sapiens_hsa003801.46055252
23GABAergic synapse_Homo sapiens_hsa047271.45377139
24Ovarian steroidogenesis_Homo sapiens_hsa049131.37947776
25Circadian entrainment_Homo sapiens_hsa047131.37878233
26Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.37608434
27Type I diabetes mellitus_Homo sapiens_hsa049401.32652076
28Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.30473157
29Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.26749944
30Cyanoamino acid metabolism_Homo sapiens_hsa004601.25615890
31Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.25452945
32Cardiac muscle contraction_Homo sapiens_hsa042601.24389406
33Circadian rhythm_Homo sapiens_hsa047101.24288968
34Vascular smooth muscle contraction_Homo sapiens_hsa042701.20895350
35Calcium signaling pathway_Homo sapiens_hsa040201.19689866
36Selenocompound metabolism_Homo sapiens_hsa004501.18512448
37Arachidonic acid metabolism_Homo sapiens_hsa005901.17135912
38Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.16565677
39Insulin secretion_Homo sapiens_hsa049111.13263687
40Dilated cardiomyopathy_Homo sapiens_hsa054141.12308130
41Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.12159543
42Intestinal immune network for IgA production_Homo sapiens_hsa046721.06085714
43Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.06080977
44Homologous recombination_Homo sapiens_hsa034401.05224116
45Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.05112532
46Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.03890304
47One carbon pool by folate_Homo sapiens_hsa006701.02985810
48Salivary secretion_Homo sapiens_hsa049701.02700145
49SNARE interactions in vesicular transport_Homo sapiens_hsa041301.00335951
50Oxytocin signaling pathway_Homo sapiens_hsa049210.98798591
51Propanoate metabolism_Homo sapiens_hsa006400.98162741
52Serotonergic synapse_Homo sapiens_hsa047260.97042734
53Autoimmune thyroid disease_Homo sapiens_hsa053200.96853352
54Collecting duct acid secretion_Homo sapiens_hsa049660.95203957
55Sulfur relay system_Homo sapiens_hsa041220.94903212
56Allograft rejection_Homo sapiens_hsa053300.90473446
57cGMP-PKG signaling pathway_Homo sapiens_hsa040220.90219452
58Graft-versus-host disease_Homo sapiens_hsa053320.88926927
59Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.87357509
60Retinol metabolism_Homo sapiens_hsa008300.85287716
61Cocaine addiction_Homo sapiens_hsa050300.85101317
62Peroxisome_Homo sapiens_hsa041460.82326423
63cAMP signaling pathway_Homo sapiens_hsa040240.81455248
64Dopaminergic synapse_Homo sapiens_hsa047280.79256004
65Primary immunodeficiency_Homo sapiens_hsa053400.78886944
66Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.76922725
67ABC transporters_Homo sapiens_hsa020100.74952903
68Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.74299594
69Fatty acid degradation_Homo sapiens_hsa000710.73881271
70T cell receptor signaling pathway_Homo sapiens_hsa046600.72737609
71Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.70946610
72Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.70852914
73Chemical carcinogenesis_Homo sapiens_hsa052040.69770199
74Long-term potentiation_Homo sapiens_hsa047200.66237369
75Maturity onset diabetes of the young_Homo sapiens_hsa049500.64827328
76Gastric acid secretion_Homo sapiens_hsa049710.63876908
77Steroid hormone biosynthesis_Homo sapiens_hsa001400.63281219
78Ether lipid metabolism_Homo sapiens_hsa005650.62679058
79Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.62166649
80Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.61541120
81Hematopoietic cell lineage_Homo sapiens_hsa046400.61016243
82Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.61003889
83Pentose and glucuronate interconversions_Homo sapiens_hsa000400.59984087
84Pyruvate metabolism_Homo sapiens_hsa006200.59179974
85Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.57267653
86Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.56948526
87Drug metabolism - other enzymes_Homo sapiens_hsa009830.56696914
88Glycerophospholipid metabolism_Homo sapiens_hsa005640.53661639
89Legionellosis_Homo sapiens_hsa051340.52395007
90Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.51728292
91Histidine metabolism_Homo sapiens_hsa003400.48465730
92Glycerolipid metabolism_Homo sapiens_hsa005610.45966051
93Staphylococcus aureus infection_Homo sapiens_hsa051500.44865889
94Pancreatic secretion_Homo sapiens_hsa049720.44632013
95Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.40977706
96Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.36549557
97Oxidative phosphorylation_Homo sapiens_hsa001900.34913086
98Basal transcription factors_Homo sapiens_hsa030220.32919598
99Aldosterone synthesis and secretion_Homo sapiens_hsa049250.32636814
100Long-term depression_Homo sapiens_hsa047300.30668661

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