NOX5

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





Description: This gene is predominantly expressed in the testis and lymphocyte-rich areas of spleen and lymph nodes. It encodes a calcium-dependen NADPH oxidase that generates superoxide, and functions as a calcium-dependent proton channel that may regulate redox-dependent processes in lymphocytes and spermatozoa. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein K11-linked deubiquitination (GO:0035871)4.95050876
2indolalkylamine metabolic process (GO:0006586)4.22328789
3tryptophan catabolic process (GO:0006569)4.13386254
4indole-containing compound catabolic process (GO:0042436)4.13386254
5indolalkylamine catabolic process (GO:0046218)4.13386254
6photoreceptor cell maintenance (GO:0045494)4.12220221
7piRNA metabolic process (GO:0034587)4.06443545
8detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.00509271
9behavioral response to nicotine (GO:0035095)3.94783376
10response to pheromone (GO:0019236)3.87965766
11platelet dense granule organization (GO:0060155)3.84697434
12kynurenine metabolic process (GO:0070189)3.80758843
13detection of light stimulus involved in sensory perception (GO:0050962)3.76986497
14detection of light stimulus involved in visual perception (GO:0050908)3.76986497
15multicellular organism reproduction (GO:0032504)3.75069098
16tryptophan metabolic process (GO:0006568)3.62832364
17cilium or flagellum-dependent cell motility (GO:0001539)3.50012057
18L-fucose catabolic process (GO:0042355)3.48976147
19fucose catabolic process (GO:0019317)3.48976147
20L-fucose metabolic process (GO:0042354)3.48976147
21retinal cone cell development (GO:0046549)3.47171577
22cellular ketone body metabolic process (GO:0046950)3.45246435
23regulation of meiosis I (GO:0060631)3.43396418
24DNA methylation involved in gamete generation (GO:0043046)3.37971055
25sperm motility (GO:0030317)3.37671290
26protein polyglutamylation (GO:0018095)3.30211450
27regulation of cilium movement (GO:0003352)3.29994634
28reciprocal DNA recombination (GO:0035825)3.20330372
29reciprocal meiotic recombination (GO:0007131)3.20330372
30axoneme assembly (GO:0035082)3.20091086
31regulation of acrosome reaction (GO:0060046)3.19983107
32nonmotile primary cilium assembly (GO:0035058)3.19032589
33indole-containing compound metabolic process (GO:0042430)3.18617379
34ketone body metabolic process (GO:1902224)3.18345544
35auditory receptor cell stereocilium organization (GO:0060088)3.14555240
36response to misfolded protein (GO:0051788)3.12588091
37protein complex biogenesis (GO:0070271)3.10307621
38neural tube formation (GO:0001841)3.09926080
39regulation of hippo signaling (GO:0035330)3.04195940
40respiratory chain complex IV assembly (GO:0008535)2.97000551
41reflex (GO:0060004)2.95674719
42mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.94782415
43mitochondrial respiratory chain complex I assembly (GO:0032981)2.94782415
44NADH dehydrogenase complex assembly (GO:0010257)2.94782415
45epithelial cilium movement (GO:0003351)2.94535466
46acrosome reaction (GO:0007340)2.90994626
47male meiosis (GO:0007140)2.87024249
48signal peptide processing (GO:0006465)2.86826335
49establishment of protein localization to Golgi (GO:0072600)2.86492857
50aromatic amino acid family catabolic process (GO:0009074)2.85878483
51regulation of collateral sprouting (GO:0048670)2.85139032
52mannosylation (GO:0097502)2.84527090
53cilium morphogenesis (GO:0060271)2.83620501
54negative regulation of mast cell activation (GO:0033004)2.82949149
55mitochondrial respiratory chain complex assembly (GO:0033108)2.82140425
56cornea development in camera-type eye (GO:0061303)2.82065497
57inner ear receptor stereocilium organization (GO:0060122)2.78198678
58DNA double-strand break processing (GO:0000729)2.77683984
59cellular biogenic amine catabolic process (GO:0042402)2.76362435
60amine catabolic process (GO:0009310)2.76362435
61primary amino compound metabolic process (GO:1901160)2.76219208
62photoreceptor cell development (GO:0042461)2.75327587
63thyroid hormone metabolic process (GO:0042403)2.72327351
64synapsis (GO:0007129)2.70729456
65protein localization to cilium (GO:0061512)2.68295058
66rhodopsin mediated signaling pathway (GO:0016056)2.68197271
67sulfation (GO:0051923)2.68194025
68negative regulation of cytosolic calcium ion concentration (GO:0051481)2.67866411
69aromatic amino acid family metabolic process (GO:0009072)2.67195680
70cytochrome complex assembly (GO:0017004)2.66662548
71cilium organization (GO:0044782)2.66549007
72epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.65741222
73replication fork processing (GO:0031297)2.65240047
74cilium movement (GO:0003341)2.65224269
75behavioral response to ethanol (GO:0048149)2.62389611
76DNA deamination (GO:0045006)2.61965355
77water-soluble vitamin biosynthetic process (GO:0042364)2.61962689
78positive regulation of oligodendrocyte differentiation (GO:0048714)2.61803271
79serotonin metabolic process (GO:0042428)2.60989137
80male meiosis I (GO:0007141)2.60148126
81endoderm formation (GO:0001706)2.59836540
82cilium assembly (GO:0042384)2.59308810
83regulation of rhodopsin mediated signaling pathway (GO:0022400)2.59047278
84positive regulation of meiosis (GO:0045836)2.57638935
85negative regulation of calcium ion transport into cytosol (GO:0010523)2.57546956
86NAD biosynthetic process (GO:0009435)2.57307707
87organic cation transport (GO:0015695)2.57187700
88detection of mechanical stimulus involved in sensory perception (GO:0050974)2.55169253
89protein K63-linked deubiquitination (GO:0070536)2.54241303
90peptidyl-histidine modification (GO:0018202)2.52948252
91glycerophospholipid catabolic process (GO:0046475)2.51168492
92visual perception (GO:0007601)2.50628658
93G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.50246213
94sensory perception of light stimulus (GO:0050953)2.50178004
95regulation of glucokinase activity (GO:0033131)2.48684679
96regulation of hexokinase activity (GO:1903299)2.48684679
97preassembly of GPI anchor in ER membrane (GO:0016254)2.48434863
98double-strand break repair via homologous recombination (GO:0000724)2.48395444
99serotonin receptor signaling pathway (GO:0007210)2.48200049
100proline transport (GO:0015824)2.48068030

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human3.58525568
2VDR_22108803_ChIP-Seq_LS180_Human3.50397915
3ZNF274_21170338_ChIP-Seq_K562_Hela3.41708905
4FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.93873338
5IGF1R_20145208_ChIP-Seq_DFB_Human2.61765184
6ZFP57_27257070_Chip-Seq_ESCs_Mouse2.52846885
7GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.52326156
8POU3F2_20337985_ChIP-ChIP_501MEL_Human2.32057281
9GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.32001324
10CTBP2_25329375_ChIP-Seq_LNCAP_Human2.31765379
11P300_19829295_ChIP-Seq_ESCs_Human2.18077221
12EZH2_22144423_ChIP-Seq_EOC_Human2.16497612
13CTBP1_25329375_ChIP-Seq_LNCAP_Human2.15500654
14TAF15_26573619_Chip-Seq_HEK293_Human2.12581868
15BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.11642260
16FUS_26573619_Chip-Seq_HEK293_Human2.09276275
17FLI1_27457419_Chip-Seq_LIVER_Mouse2.05650612
18ER_23166858_ChIP-Seq_MCF-7_Human2.03562696
19CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.97521888
20EWS_26573619_Chip-Seq_HEK293_Human1.96842657
21AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.92056484
22SALL1_21062744_ChIP-ChIP_HESCs_Human1.86900025
23CBP_20019798_ChIP-Seq_JUKART_Human1.80124299
24IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.80124299
25TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.77523219
26EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.77482213
27PCGF2_27294783_Chip-Seq_ESCs_Mouse1.72384545
28STAT3_23295773_ChIP-Seq_U87_Human1.71775692
29UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.71766209
30PIAS1_25552417_ChIP-Seq_VCAP_Human1.71303059
31SMAD4_21799915_ChIP-Seq_A2780_Human1.71197809
32* AR_25329375_ChIP-Seq_VCAP_Human1.69668742
33BCAT_22108803_ChIP-Seq_LS180_Human1.65743427
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.65467939
35SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.57869488
36TP53_22573176_ChIP-Seq_HFKS_Human1.55207344
37* TCF4_23295773_ChIP-Seq_U87_Human1.52503055
38HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.47813991
39MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.46903840
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.45234874
41POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.44231994
42TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.44231994
43SMAD3_21741376_ChIP-Seq_EPCs_Human1.43870179
44HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.43058887
45MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.39916590
46SMAD4_21741376_ChIP-Seq_EPCs_Human1.38387711
47KLF5_20875108_ChIP-Seq_MESCs_Mouse1.38358480
48AR_21572438_ChIP-Seq_LNCaP_Human1.38335654
49TCF4_22108803_ChIP-Seq_LS180_Human1.36504519
50NR3C1_21868756_ChIP-Seq_MCF10A_Human1.35944200
51PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.35206958
52NANOG_19829295_ChIP-Seq_ESCs_Human1.33689657
53SOX2_19829295_ChIP-Seq_ESCs_Human1.33689657
54* FOXA1_25329375_ChIP-Seq_VCAP_Human1.31827814
55* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.31827814
56* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.31634448
57EZH2_27294783_Chip-Seq_NPCs_Mouse1.31107786
58CDX2_22108803_ChIP-Seq_LS180_Human1.30905986
59RUNX2_22187159_ChIP-Seq_PCA_Human1.29628735
60FOXA1_21572438_ChIP-Seq_LNCaP_Human1.28610511
61EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.28168565
62TOP2B_26459242_ChIP-Seq_MCF-7_Human1.27662278
63SUZ12_27294783_Chip-Seq_NPCs_Mouse1.27396216
64PCGF2_27294783_Chip-Seq_NPCs_Mouse1.24248734
65NFE2_27457419_Chip-Seq_LIVER_Mouse1.22420171
66NANOG_18555785_Chip-Seq_ESCs_Mouse1.21016533
67IRF1_19129219_ChIP-ChIP_H3396_Human1.19518861
68ETV2_25802403_ChIP-Seq_MESCs_Mouse1.18195842
69AR_20517297_ChIP-Seq_VCAP_Human1.15747276
70NCOR_22424771_ChIP-Seq_293T_Human1.14767834
71TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.14651262
72PRDM14_20953172_ChIP-Seq_ESCs_Human1.13647868
73HOXB7_26014856_ChIP-Seq_BT474_Human1.13392393
74CBX2_27304074_Chip-Seq_ESCs_Mouse1.13095754
75SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13055041
76FLI1_21867929_ChIP-Seq_TH2_Mouse1.12685757
77OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.11799336
78CRX_20693478_ChIP-Seq_RETINA_Mouse1.11741843
79BMI1_23680149_ChIP-Seq_NPCS_Mouse1.11338558
80CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.10653213
81GATA3_21878914_ChIP-Seq_MCF-7_Human1.10026463
82ARNT_22903824_ChIP-Seq_MCF-7_Human1.09553679
83EGR1_23403033_ChIP-Seq_LIVER_Mouse1.09196981
84GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.07657326
85NOTCH1_21737748_ChIP-Seq_TLL_Human1.05921949
86CJUN_26792858_Chip-Seq_BT549_Human1.05659813
87REST_21632747_ChIP-Seq_MESCs_Mouse1.05578135
88AHR_22903824_ChIP-Seq_MCF-7_Human1.05239335
89STAT3_18555785_Chip-Seq_ESCs_Mouse1.05119135
90MYC_18940864_ChIP-ChIP_HL60_Human1.03425959
91P53_22387025_ChIP-Seq_ESCs_Mouse1.02975073
92AUTS2_25519132_ChIP-Seq_293T-REX_Human1.02009674
93EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.01740948
94E2F1_18555785_Chip-Seq_ESCs_Mouse0.99547724
95TP53_18474530_ChIP-ChIP_U2OS_Human0.99245513
96DROSHA_22980978_ChIP-Seq_HELA_Human0.98377481
97TBL1_22424771_ChIP-Seq_293T_Human0.97049887
98TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.96324836
99GABP_17652178_ChIP-ChIP_JURKAT_Human0.96302048
100TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.94953527

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003195_calcinosis4.43462344
2MP0008877_abnormal_DNA_methylation3.05301756
3MP0003136_yellow_coat_color2.95696062
4MP0005551_abnormal_eye_electrophysiolog2.94139721
5MP0002837_dystrophic_cardiac_calcinosis2.33777626
6MP0000372_irregular_coat_pigmentation2.24734795
7MP0005410_abnormal_fertilization2.21580955
8MP0003646_muscle_fatigue2.14113874
9MP0005253_abnormal_eye_physiology2.13312183
10MP0006072_abnormal_retinal_apoptosis2.09481214
11MP0001501_abnormal_sleep_pattern2.03754057
12MP0003950_abnormal_plasma_membrane2.02736093
13MP0006276_abnormal_autonomic_nervous2.02672262
14MP0009046_muscle_twitch2.00021058
15MP0001968_abnormal_touch/_nociception1.92039137
16MP0003718_maternal_effect1.91055329
17MP0004043_abnormal_pH_regulation1.78387658
18MP0000569_abnormal_digit_pigmentation1.76714331
19MP0010386_abnormal_urinary_bladder1.76027563
20MP0002653_abnormal_ependyma_morphology1.74852382
21MP0002102_abnormal_ear_morphology1.70624123
22MP0008872_abnormal_physiological_respon1.69714896
23MP0000427_abnormal_hair_cycle1.68365976
24MP0002138_abnormal_hepatobiliary_system1.65403146
25MP0009745_abnormal_behavioral_response1.62347485
26MP0003011_delayed_dark_adaptation1.61302994
27MP0002638_abnormal_pupillary_reflex1.60217557
28MP0006054_spinal_hemorrhage1.59643505
29MP0005646_abnormal_pituitary_gland1.49973416
30MP0001984_abnormal_olfaction1.49697901
31MP0005084_abnormal_gallbladder_morpholo1.49297452
32MP0002736_abnormal_nociception_after1.48655224
33MP0001485_abnormal_pinna_reflex1.40929300
34MP0002938_white_spotting1.39739748
35MP0005310_abnormal_salivary_gland1.39468789
36MP0002254_reproductive_system_inflammat1.35530477
37MP0002272_abnormal_nervous_system1.34828816
38MP0002876_abnormal_thyroid_physiology1.33367101
39MP0003698_abnormal_male_reproductive1.32752480
40MP0005360_urolithiasis1.31453245
41MP0003880_abnormal_central_pattern1.29147182
42MP0001486_abnormal_startle_reflex1.28815529
43MP0005171_absent_coat_pigmentation1.28267173
44MP0008875_abnormal_xenobiotic_pharmacok1.26420642
45MP0005645_abnormal_hypothalamus_physiol1.26302521
46MP0001764_abnormal_homeostasis1.24490553
47MP0001929_abnormal_gametogenesis1.23341993
48MP0003878_abnormal_ear_physiology1.22998347
49MP0005377_hearing/vestibular/ear_phenot1.22998347
50MP0005085_abnormal_gallbladder_physiolo1.22319561
51MP0000631_abnormal_neuroendocrine_gland1.20264399
52MP0004215_abnormal_myocardial_fiber1.19387823
53MP0004142_abnormal_muscle_tone1.18885532
54MP0003252_abnormal_bile_duct1.18733135
55MP0003787_abnormal_imprinting1.17528054
56MP0001970_abnormal_pain_threshold1.17284344
57MP0002928_abnormal_bile_duct1.16352081
58MP0000230_abnormal_systemic_arterial1.15913630
59MP0002234_abnormal_pharynx_morphology1.15512610
60MP0002735_abnormal_chemical_nociception1.13988961
61MP0006292_abnormal_olfactory_placode1.12391833
62MP0005167_abnormal_blood-brain_barrier1.09867822
63MP0005389_reproductive_system_phenotype1.09415109
64MP0002572_abnormal_emotion/affect_behav1.08326172
65MP0008775_abnormal_heart_ventricle1.08122955
66MP0005195_abnormal_posterior_eye1.07822624
67MP0002163_abnormal_gland_morphology1.05889754
68MP0005670_abnormal_white_adipose1.05717018
69MP0002210_abnormal_sex_determination1.05376508
70MP0001348_abnormal_lacrimal_gland1.04423654
71MP0008057_abnormal_DNA_replication1.02582951
72MP0002095_abnormal_skin_pigmentation1.02034257
73MP0000653_abnormal_sex_gland1.01847308
74MP0004133_heterotaxia1.00406821
75MP0002557_abnormal_social/conspecific_i1.00194845
76MP0002751_abnormal_autonomic_nervous0.99901248
77MP0005379_endocrine/exocrine_gland_phen0.99056891
78MP0005395_other_phenotype0.98925275
79MP0009780_abnormal_chondrocyte_physiolo0.96761064
80MP0000383_abnormal_hair_follicle0.95219703
81MP0001919_abnormal_reproductive_system0.94659134
82MP0004742_abnormal_vestibular_system0.93595202
83MP0002733_abnormal_thermal_nociception0.93448290
84MP0000647_abnormal_sebaceous_gland0.93319258
85MP0001145_abnormal_male_reproductive0.92005846
86MP0001324_abnormal_eye_pigmentation0.91944796
87MP0002160_abnormal_reproductive_system0.91436222
88MP0003119_abnormal_digestive_system0.91241497
89MP0002229_neurodegeneration0.91135796
90MP0005174_abnormal_tail_pigmentation0.90840825
91MP0004147_increased_porphyrin_level0.90543038
92MP0008058_abnormal_DNA_repair0.90207836
93MP0002067_abnormal_sensory_capabilities0.89841862
94MP0002064_seizures0.89403550
95MP0005386_behavior/neurological_phenoty0.88562173
96MP0004924_abnormal_behavior0.88562173
97MP0002734_abnormal_mechanical_nocicepti0.86732591
98MP0005075_abnormal_melanosome_morpholog0.86521181
99MP0003890_abnormal_embryonic-extraembry0.86057532
100MP0002752_abnormal_somatic_nervous0.84359504

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.47983717
2Pancreatic fibrosis (HP:0100732)4.35694454
3True hermaphroditism (HP:0010459)4.18577797
4Congenital stationary night blindness (HP:0007642)3.97520863
5Attenuation of retinal blood vessels (HP:0007843)3.81005064
6Chronic hepatic failure (HP:0100626)3.68058288
7Molar tooth sign on MRI (HP:0002419)3.61198297
8Abnormality of midbrain morphology (HP:0002418)3.61198297
9Nephronophthisis (HP:0000090)3.53842708
10Abnormality of the renal cortex (HP:0011035)3.33957834
11Medial flaring of the eyebrow (HP:0010747)3.27569118
12Abnormality of the renal medulla (HP:0100957)3.18450201
13Gaze-evoked nystagmus (HP:0000640)3.10579485
14Bony spicule pigmentary retinopathy (HP:0007737)3.08039265
15Congenital sensorineural hearing impairment (HP:0008527)3.03948136
16Hyperventilation (HP:0002883)3.02927824
17Tubular atrophy (HP:0000092)2.94524406
18Polydipsia (HP:0001959)2.92221800
19Abnormal drinking behavior (HP:0030082)2.92221800
20Abolished electroretinogram (ERG) (HP:0000550)2.85745478
21Type II lissencephaly (HP:0007260)2.80001286
22Cystic liver disease (HP:0006706)2.69361857
23Abnormal rod and cone electroretinograms (HP:0008323)2.67722629
24Gait imbalance (HP:0002141)2.63311189
25Increased corneal curvature (HP:0100692)2.63268377
26Keratoconus (HP:0000563)2.63268377
27Congenital primary aphakia (HP:0007707)2.60199764
28Aplasia/Hypoplasia of the tongue (HP:0010295)2.59570722
29Sclerocornea (HP:0000647)2.56013810
30Decreased central vision (HP:0007663)2.55118379
31Severe visual impairment (HP:0001141)2.53930637
32Pendular nystagmus (HP:0012043)2.51841266
33Absent/shortened dynein arms (HP:0200106)2.45033545
34Dynein arm defect of respiratory motile cilia (HP:0012255)2.45033545
35Cerebellar dysplasia (HP:0007033)2.43715758
36Abnormality of alanine metabolism (HP:0010916)2.37870762
37Hyperalaninemia (HP:0003348)2.37870762
38Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.37870762
39Congenital hepatic fibrosis (HP:0002612)2.35827791
40Nephrogenic diabetes insipidus (HP:0009806)2.33896398
41Aplasia/Hypoplasia of the tibia (HP:0005772)2.33046586
42Polyuria (HP:0000103)2.31898954
43Decreased circulating renin level (HP:0003351)2.26780294
44Progressive cerebellar ataxia (HP:0002073)2.23198895
45Increased CSF lactate (HP:0002490)2.22699811
46Furrowed tongue (HP:0000221)2.21907204
47Genital tract atresia (HP:0001827)2.16855192
48Abnormality of macular pigmentation (HP:0008002)2.16254955
49Febrile seizures (HP:0002373)2.15280827
50Retinitis pigmentosa (HP:0000510)2.15078589
51Mitochondrial inheritance (HP:0001427)2.14084882
52Male pseudohermaphroditism (HP:0000037)2.12327298
53Renal cortical cysts (HP:0000803)2.12020542
54Large for gestational age (HP:0001520)2.11616194
55Anencephaly (HP:0002323)2.11210519
56Inability to walk (HP:0002540)2.10836270
57Hypothermia (HP:0002045)2.09223143
58Concave nail (HP:0001598)2.08696912
59Absent speech (HP:0001344)2.07974506
60Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.06132753
61Hepatocellular necrosis (HP:0001404)2.05623787
62Progressive inability to walk (HP:0002505)2.04731771
63Hypoplasia of the fovea (HP:0007750)2.04116030
64Aplasia/Hypoplasia of the fovea (HP:0008060)2.04116030
65Intestinal atresia (HP:0011100)2.03630748
663-Methylglutaconic aciduria (HP:0003535)2.02970573
67Vaginal atresia (HP:0000148)2.02631816
68Absent rod-and cone-mediated responses on ERG (HP:0007688)2.02376861
69Abnormal respiratory motile cilium physiology (HP:0012261)2.02053474
70Chorioretinal atrophy (HP:0000533)1.99319835
71Postaxial foot polydactyly (HP:0001830)1.98989134
72Dialeptic seizures (HP:0011146)1.98400506
73Ketoacidosis (HP:0001993)1.97706031
74Abnormal ciliary motility (HP:0012262)1.96589413
75Decreased electroretinogram (ERG) amplitude (HP:0000654)1.95888025
76Hepatic necrosis (HP:0002605)1.94534911
77Acute necrotizing encephalopathy (HP:0006965)1.94338198
78Optic nerve hypoplasia (HP:0000609)1.92291178
79Clumsiness (HP:0002312)1.91633758
80Tubulointerstitial nephritis (HP:0001970)1.91615766
81Acute encephalopathy (HP:0006846)1.89879654
82Constricted visual fields (HP:0001133)1.87658423
83Abnormal urine output (HP:0012590)1.86346487
84Poor coordination (HP:0002370)1.86253990
85Progressive macrocephaly (HP:0004481)1.85211488
86Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.84907328
87Preaxial hand polydactyly (HP:0001177)1.83617047
88Focal seizures (HP:0007359)1.79601226
89Lissencephaly (HP:0001339)1.79375789
90Abnormal respiratory motile cilium morphology (HP:0005938)1.78242208
91Abnormal respiratory epithelium morphology (HP:0012253)1.78242208
92Abnormal biliary tract physiology (HP:0012439)1.77679545
93Bile duct proliferation (HP:0001408)1.77679545
94Occipital encephalocele (HP:0002085)1.77578995
95Genetic anticipation (HP:0003743)1.77542648
96Abnormality of the fovea (HP:0000493)1.77521530
97Astigmatism (HP:0000483)1.77448026
98Photophobia (HP:0000613)1.76110662
99Optic disc pallor (HP:0000543)1.74206659
100Ketosis (HP:0001946)1.72256595

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK7.74138729
2ADRBK23.22800940
3MAP4K22.75936739
4WNK32.65070229
5BMPR1B2.64679654
6ZAK2.56284539
7PINK12.56176541
8ACVR1B2.39873725
9INSRR2.30493308
10GRK12.14005592
11NUAK12.09018955
12TRIM281.90927535
13CASK1.89057533
14STK38L1.79082603
15WNK41.75254072
16TAOK31.65118300
17STK391.60937054
18MAP3K41.57920297
19OXSR11.55377838
20TLK11.52615638
21MAPK131.41100770
22MST41.29314504
23NTRK31.25908200
24TNIK1.25183600
25PLK41.23726417
26ADRBK11.23077080
27BRSK21.20120668
28BCR1.15377926
29PLK21.15219012
30PTK2B1.13903998
31MAP2K71.11447000
32PIK3CG1.10722775
33MKNK21.10168507
34EIF2AK31.06000077
35FER1.02776648
36PAK31.01978854
37CAMKK21.01748374
38TXK0.99771815
39STK160.98982586
40MAPKAPK30.92986906
41PRKCE0.92615211
42ERBB30.88565397
43CSNK1G20.86012168
44MUSK0.84294132
45DAPK20.83753400
46STK30.81440143
47EPHA40.75183845
48PRKCG0.73899963
49CSNK1G30.73174367
50FGFR20.72847407
51CSNK1G10.72334758
52CSNK1A1L0.72109153
53TGFBR10.70062860
54TIE10.69924220
55VRK10.67544413
56LATS10.66127044
57PHKG10.65184423
58PHKG20.65184423
59LIMK10.61148625
60NLK0.59859975
61PASK0.57485645
62SIK30.57350274
63PKN10.54862165
64PRKCI0.54662186
65BCKDK0.53841782
66PIK3CA0.53321222
67MARK10.52934294
68CAMK2A0.52143555
69MARK30.50437178
70PRKCQ0.49037947
71PDK20.45438398
72MAPKAPK50.44749119
73DYRK20.43713688
74MET0.42548847
75MAP2K10.42276313
76MST1R0.40730963
77PLK30.39492863
78EPHA30.39413017
79PRKAA20.39035217
80RPS6KA50.37038288
81PRKCZ0.36721498
82IKBKB0.36225004
83KSR10.35770852
84CDK80.35065051
85CSNK1A10.33959162
86PRKG10.33689106
87TRPM70.33545328
88AKT30.33328718
89PRKACA0.33298105
90BLK0.33213003
91NEK20.32670538
92PLK10.32269566
93CSNK1D0.31295283
94CHEK20.30607347
95NME10.29736527
96TEC0.29503666
97MKNK10.28615104
98MAP2K60.28551370
99STK380.26807793
100TNK20.25611598

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047442.79488261
2Nitrogen metabolism_Homo sapiens_hsa009102.65330879
3Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.46440212
4Butanoate metabolism_Homo sapiens_hsa006502.36551344
5Linoleic acid metabolism_Homo sapiens_hsa005912.31987672
6Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.28791443
7Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.28487079
8Homologous recombination_Homo sapiens_hsa034402.24754977
9Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.23909993
10alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.16829372
11Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.13652523
12Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.10896478
13Selenocompound metabolism_Homo sapiens_hsa004502.10648643
14Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.99491250
15Tryptophan metabolism_Homo sapiens_hsa003801.96335044
16Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.89211311
17Oxidative phosphorylation_Homo sapiens_hsa001901.83811088
18Ether lipid metabolism_Homo sapiens_hsa005651.72251301
19Propanoate metabolism_Homo sapiens_hsa006401.69516163
20Basal transcription factors_Homo sapiens_hsa030221.65822800
21RNA polymerase_Homo sapiens_hsa030201.65309758
22Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.63937994
23Maturity onset diabetes of the young_Homo sapiens_hsa049501.61251520
24Primary bile acid biosynthesis_Homo sapiens_hsa001201.59884817
25Nicotine addiction_Homo sapiens_hsa050331.59512476
26Fanconi anemia pathway_Homo sapiens_hsa034601.52809883
27Protein export_Homo sapiens_hsa030601.48557065
28Steroid hormone biosynthesis_Homo sapiens_hsa001401.43206361
29ABC transporters_Homo sapiens_hsa020101.40999911
30Olfactory transduction_Homo sapiens_hsa047401.38656513
31Non-homologous end-joining_Homo sapiens_hsa034501.33649773
32Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.30502601
33Parkinsons disease_Homo sapiens_hsa050121.28862039
34Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.27800391
35Sulfur metabolism_Homo sapiens_hsa009201.22869103
36Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.21780631
37Morphine addiction_Homo sapiens_hsa050321.19926957
38Huntingtons disease_Homo sapiens_hsa050161.18929626
39Taste transduction_Homo sapiens_hsa047421.18545937
40Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.17897961
41Chemical carcinogenesis_Homo sapiens_hsa052041.11492274
42Regulation of autophagy_Homo sapiens_hsa041401.10093107
43Caffeine metabolism_Homo sapiens_hsa002321.09429649
44Retinol metabolism_Homo sapiens_hsa008301.09409763
45Ovarian steroidogenesis_Homo sapiens_hsa049131.07267766
46Arachidonic acid metabolism_Homo sapiens_hsa005901.06346890
47Salivary secretion_Homo sapiens_hsa049701.04975814
48Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.00188868
49Histidine metabolism_Homo sapiens_hsa003400.99810294
50Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.99603735
51Peroxisome_Homo sapiens_hsa041460.95239772
52Serotonergic synapse_Homo sapiens_hsa047260.94461359
53Glycerolipid metabolism_Homo sapiens_hsa005610.91383456
54One carbon pool by folate_Homo sapiens_hsa006700.91123843
55Purine metabolism_Homo sapiens_hsa002300.88762007
56Cysteine and methionine metabolism_Homo sapiens_hsa002700.87711967
57Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.87025627
58Insulin secretion_Homo sapiens_hsa049110.85721126
59Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.84212547
60RNA degradation_Homo sapiens_hsa030180.82817265
61Pentose and glucuronate interconversions_Homo sapiens_hsa000400.82444193
62Alzheimers disease_Homo sapiens_hsa050100.82291454
63Metabolic pathways_Homo sapiens_hsa011000.81533232
64Circadian entrainment_Homo sapiens_hsa047130.80089818
65Fatty acid biosynthesis_Homo sapiens_hsa000610.78214971
66Calcium signaling pathway_Homo sapiens_hsa040200.76286796
67Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.74934619
68Glutamatergic synapse_Homo sapiens_hsa047240.73367589
69GABAergic synapse_Homo sapiens_hsa047270.73281890
70Proteasome_Homo sapiens_hsa030500.71014593
71N-Glycan biosynthesis_Homo sapiens_hsa005100.70650582
72Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.70647341
73Circadian rhythm_Homo sapiens_hsa047100.69946762
74Fatty acid degradation_Homo sapiens_hsa000710.68267560
75Sphingolipid metabolism_Homo sapiens_hsa006000.67159081
76beta-Alanine metabolism_Homo sapiens_hsa004100.66851619
77Fat digestion and absorption_Homo sapiens_hsa049750.66049317
78Fatty acid metabolism_Homo sapiens_hsa012120.65433464
79Cyanoamino acid metabolism_Homo sapiens_hsa004600.65133611
80Steroid biosynthesis_Homo sapiens_hsa001000.64677534
81Dorso-ventral axis formation_Homo sapiens_hsa043200.63454318
82Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.61587655
83Cardiac muscle contraction_Homo sapiens_hsa042600.59627752
84SNARE interactions in vesicular transport_Homo sapiens_hsa041300.55808542
85Fatty acid elongation_Homo sapiens_hsa000620.55659857
86Lysine degradation_Homo sapiens_hsa003100.52509582
87Glutathione metabolism_Homo sapiens_hsa004800.52259351
88Pyrimidine metabolism_Homo sapiens_hsa002400.52153244
89Collecting duct acid secretion_Homo sapiens_hsa049660.47531800
90Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.47384404
91Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.44582534
92Starch and sucrose metabolism_Homo sapiens_hsa005000.44362558
93Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.44175724
94Mineral absorption_Homo sapiens_hsa049780.41996820
95Arginine and proline metabolism_Homo sapiens_hsa003300.41672350
96Vascular smooth muscle contraction_Homo sapiens_hsa042700.41579178
97Glycerophospholipid metabolism_Homo sapiens_hsa005640.40127195
98Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.38521408
99Long-term depression_Homo sapiens_hsa047300.35385917
100Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.35342323

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