C8ORF34

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 protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients undergoing chemotherapeutic treatment. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)6.07190324
2cilium or flagellum-dependent cell motility (GO:0001539)5.01276721
3epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.54342801
4kynurenine metabolic process (GO:0070189)4.15822138
5indole-containing compound catabolic process (GO:0042436)4.13503376
6indolalkylamine catabolic process (GO:0046218)4.13503376
7tryptophan catabolic process (GO:0006569)4.13503376
8cilium movement (GO:0003341)4.05757004
9indolalkylamine metabolic process (GO:0006586)4.05392102
10detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.05255159
11rRNA catabolic process (GO:0016075)3.98082727
12L-fucose catabolic process (GO:0042355)3.94796328
13fucose catabolic process (GO:0019317)3.94796328
14L-fucose metabolic process (GO:0042354)3.94796328
15protein localization to cilium (GO:0061512)3.94074851
16epithelial cilium movement (GO:0003351)3.88424349
17motile cilium assembly (GO:0044458)3.83204898
18detection of light stimulus involved in visual perception (GO:0050908)3.56621148
19detection of light stimulus involved in sensory perception (GO:0050962)3.56621148
20axoneme assembly (GO:0035082)3.55046523
21tryptophan metabolic process (GO:0006568)3.52449999
22axonemal dynein complex assembly (GO:0070286)3.51617214
23photoreceptor cell maintenance (GO:0045494)3.51207599
24retinal cone cell development (GO:0046549)3.50285088
25sphingoid metabolic process (GO:0046519)3.48200638
26regulation of hippo signaling (GO:0035330)3.37503930
27cilium morphogenesis (GO:0060271)3.25448307
28neural tube formation (GO:0001841)3.24293631
29intraciliary transport (GO:0042073)3.20459363
30response to pheromone (GO:0019236)3.19257083
31indole-containing compound metabolic process (GO:0042430)3.14554200
32cilium organization (GO:0044782)3.14361480
33water-soluble vitamin biosynthetic process (GO:0042364)3.14215898
34auditory receptor cell stereocilium organization (GO:0060088)3.13693173
35adaptation of signaling pathway (GO:0023058)3.10995259
36mesenchymal cell differentiation involved in kidney development (GO:0072161)3.07688824
37mesenchymal cell differentiation involved in renal system development (GO:2001012)3.07688824
38gamma-aminobutyric acid transport (GO:0015812)3.04884963
39piRNA metabolic process (GO:0034587)3.03996184
40cilium assembly (GO:0042384)3.03913043
41cellular ketone body metabolic process (GO:0046950)3.02353338
42sphingosine metabolic process (GO:0006670)3.00948521
43negative regulation of telomere maintenance (GO:0032205)2.98308526
44regulation of cilium movement (GO:0003352)2.97626865
45membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.95377946
46synaptic transmission, cholinergic (GO:0007271)2.92687075
47neuronal action potential (GO:0019228)2.89807590
48signal peptide processing (GO:0006465)2.87904034
49inner ear receptor stereocilium organization (GO:0060122)2.87428171
50relaxation of smooth muscle (GO:0044557)2.86436993
51G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.84093066
52tachykinin receptor signaling pathway (GO:0007217)2.81844348
53primary amino compound metabolic process (GO:1901160)2.81700078
54protein K11-linked deubiquitination (GO:0035871)2.79753301
55cellular biogenic amine catabolic process (GO:0042402)2.78682510
56amine catabolic process (GO:0009310)2.78682510
57detection of mechanical stimulus involved in sensory perception (GO:0050974)2.77279706
58negative regulation of cytosolic calcium ion concentration (GO:0051481)2.76548178
59regulation of mesoderm development (GO:2000380)2.76072934
60positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.75885897
61diol metabolic process (GO:0034311)2.74957115
62reflex (GO:0060004)2.74044129
63negative regulation of mast cell activation (GO:0033004)2.72455634
64multicellular organism reproduction (GO:0032504)2.70861391
65membrane depolarization during action potential (GO:0086010)2.70365239
66behavioral response to ethanol (GO:0048149)2.68690204
67DNA methylation involved in gamete generation (GO:0043046)2.65983505
68benzene-containing compound metabolic process (GO:0042537)2.65660309
69DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.63518808
70ketone body metabolic process (GO:1902224)2.63494536
71serotonin metabolic process (GO:0042428)2.62625314
72RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.61729086
73negative regulation by host of viral transcription (GO:0043922)2.59748037
74transmission of nerve impulse (GO:0019226)2.57975459
75neuronal action potential propagation (GO:0019227)2.57972034
76proline transport (GO:0015824)2.57098971
77oxidative demethylation (GO:0070989)2.56042114
78startle response (GO:0001964)2.53861208
79DNA double-strand break processing (GO:0000729)2.52072443
80NAD biosynthetic process (GO:0009435)2.51411073
81positive regulation of sodium ion transmembrane transport (GO:1902307)2.51258277
82platelet dense granule organization (GO:0060155)2.51009281
83sulfation (GO:0051923)2.49561322
84negative regulation of synaptic transmission, GABAergic (GO:0032229)2.49547484
85white fat cell differentiation (GO:0050872)2.48268500
86thyroid hormone metabolic process (GO:0042403)2.48088930
87photoreceptor cell development (GO:0042461)2.46391649
88cellular component assembly involved in morphogenesis (GO:0010927)2.43974543
89glycosphingolipid biosynthetic process (GO:0006688)2.43201948
90negative regulation of T cell differentiation in thymus (GO:0033085)2.42588489
91DNA deamination (GO:0045006)2.41736318
92negative regulation of systemic arterial blood pressure (GO:0003085)2.41724397
93negative regulation of transcription regulatory region DNA binding (GO:2000678)2.40883670
94action potential (GO:0001508)2.39480410
95ncRNA catabolic process (GO:0034661)2.38975460
96limb development (GO:0060173)2.38318572
97appendage development (GO:0048736)2.38318572
98drug catabolic process (GO:0042737)2.37905675
99regulation of acrosome reaction (GO:0060046)2.37855988
100negative regulation of leukocyte chemotaxis (GO:0002689)2.36109353

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human3.47573556
2ZNF274_21170338_ChIP-Seq_K562_Hela3.31462923
3VDR_22108803_ChIP-Seq_LS180_Human3.28140201
4GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.16091731
5EZH2_22144423_ChIP-Seq_EOC_Human2.91018487
6IGF1R_20145208_ChIP-Seq_DFB_Human2.84393170
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.80845152
8ZFP57_27257070_Chip-Seq_ESCs_Mouse2.66711187
9POU3F2_20337985_ChIP-ChIP_501MEL_Human2.40989130
10CTBP2_25329375_ChIP-Seq_LNCAP_Human2.36251140
11FLI1_27457419_Chip-Seq_LIVER_Mouse2.23919314
12CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.18257811
13TAF15_26573619_Chip-Seq_HEK293_Human2.16012165
14* P300_19829295_ChIP-Seq_ESCs_Human2.08786481
15CTBP1_25329375_ChIP-Seq_LNCAP_Human2.06308378
16AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.95652583
17FUS_26573619_Chip-Seq_HEK293_Human1.92694528
18* EWS_26573619_Chip-Seq_HEK293_Human1.92088117
19ER_23166858_ChIP-Seq_MCF-7_Human1.90506869
20SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.84103884
21PCGF2_27294783_Chip-Seq_ESCs_Mouse1.83778136
22PIAS1_25552417_ChIP-Seq_VCAP_Human1.81127544
23* SMAD4_21799915_ChIP-Seq_A2780_Human1.79627719
24TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.77725992
25BCAT_22108803_ChIP-Seq_LS180_Human1.75716775
26* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.74629014
27* STAT3_23295773_ChIP-Seq_U87_Human1.74437684
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.72937149
29* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.63675559
30* TCF4_23295773_ChIP-Seq_U87_Human1.63372965
31* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.60056241
32* AR_25329375_ChIP-Seq_VCAP_Human1.59661429
33* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.57394200
34* CBP_20019798_ChIP-Seq_JUKART_Human1.52988099
35* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.52988099
36SALL1_21062744_ChIP-ChIP_HESCs_Human1.51398120
37* EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.50683394
38* SMAD3_21741376_ChIP-Seq_EPCs_Human1.48756714
39AR_21572438_ChIP-Seq_LNCaP_Human1.46454783
40MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.44808871
41TOP2B_26459242_ChIP-Seq_MCF-7_Human1.44738446
42TCF4_22108803_ChIP-Seq_LS180_Human1.42146312
43SUZ12_27294783_Chip-Seq_NPCs_Mouse1.41241257
44HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.38181692
45MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.37979002
46REST_21632747_ChIP-Seq_MESCs_Mouse1.37634673
47TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.37554301
48POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.37554301
49PCGF2_27294783_Chip-Seq_NPCs_Mouse1.36616227
50SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.36052642
51* TP53_22573176_ChIP-Seq_HFKS_Human1.33998773
52* RUNX2_22187159_ChIP-Seq_PCA_Human1.33408539
53KLF5_20875108_ChIP-Seq_MESCs_Mouse1.30042428
54IRF1_19129219_ChIP-ChIP_H3396_Human1.29937556
55EZH2_27294783_Chip-Seq_NPCs_Mouse1.29237004
56SMAD4_21741376_ChIP-Seq_EPCs_Human1.29009210
57OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.28903905
58EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.28344157
59NFE2_27457419_Chip-Seq_LIVER_Mouse1.27427984
60NANOG_19829295_ChIP-Seq_ESCs_Human1.26048414
61SOX2_19829295_ChIP-Seq_ESCs_Human1.26048414
62DROSHA_22980978_ChIP-Seq_HELA_Human1.23651332
63BMI1_23680149_ChIP-Seq_NPCS_Mouse1.22179995
64* PRDM14_20953172_ChIP-Seq_ESCs_Human1.19670651
65TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.18212242
66NANOG_18555785_Chip-Seq_ESCs_Mouse1.17358915
67EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.13838070
68FLI1_21867929_ChIP-Seq_TH2_Mouse1.12745482
69CDX2_22108803_ChIP-Seq_LS180_Human1.12093211
70TP53_16413492_ChIP-PET_HCT116_Human1.11949191
71RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11786467
72FOXA1_21572438_ChIP-Seq_LNCaP_Human1.11704414
73RNF2_27304074_Chip-Seq_NSC_Mouse1.10957212
74NCOR_22424771_ChIP-Seq_293T_Human1.10649287
75FOXA1_27270436_Chip-Seq_PROSTATE_Human1.09720818
76FOXA1_25329375_ChIP-Seq_VCAP_Human1.09720818
77SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.09293380
78CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.08396473
79CRX_20693478_ChIP-Seq_RETINA_Mouse1.06915669
80GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.06676800
81P53_22387025_ChIP-Seq_ESCs_Mouse1.06607012
82E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.06368865
83* ARNT_22903824_ChIP-Seq_MCF-7_Human1.06359156
84HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.05845060
85TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.05693841
86CBX2_27304074_Chip-Seq_ESCs_Mouse1.05046244
87* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04328290
88SOX2_21211035_ChIP-Seq_LN229_Gbm1.03156096
89AR_20517297_ChIP-Seq_VCAP_Human1.02361632
90SMAD3_21741376_ChIP-Seq_HESCs_Human1.01366538
91PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.01137567
92STAT3_18555785_Chip-Seq_ESCs_Mouse1.00630006
93GATA3_21878914_ChIP-Seq_MCF-7_Human1.00553083
94E2F1_18555785_Chip-Seq_ESCs_Mouse1.00307260
95CDX2_19796622_ChIP-Seq_MESCs_Mouse1.00167139
96* AHR_22903824_ChIP-Seq_MCF-7_Human0.99847754
97MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.98677777
98HOXB7_26014856_ChIP-Seq_BT474_Human0.98498432
99KDM2B_26808549_Chip-Seq_REH_Human0.96850155
100FOXM1_26456572_ChIP-Seq_MCF-7_Human0.96455907

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003195_calcinosis3.26785561
2MP0000569_abnormal_digit_pigmentation3.15571224
3MP0005551_abnormal_eye_electrophysiolog2.72619138
4MP0001968_abnormal_touch/_nociception2.69030419
5MP0002102_abnormal_ear_morphology2.61408145
6MP0002736_abnormal_nociception_after2.58435436
7MP0009697_abnormal_copulation2.27091412
8MP0008877_abnormal_DNA_methylation2.25109093
9MP0001485_abnormal_pinna_reflex2.18684912
10MP0010386_abnormal_urinary_bladder2.13717227
11MP0009046_muscle_twitch2.10065055
12MP0004145_abnormal_muscle_electrophysio2.06364808
13MP0003950_abnormal_plasma_membrane2.03712951
14MP0005646_abnormal_pituitary_gland1.99628018
15MP0000427_abnormal_hair_cycle1.94096726
16MP0009745_abnormal_behavioral_response1.91891981
17MP0008872_abnormal_physiological_respon1.90335289
18MP0004043_abnormal_pH_regulation1.90074405
19MP0005253_abnormal_eye_physiology1.81001801
20MP0002653_abnormal_ependyma_morphology1.78993418
21MP0001501_abnormal_sleep_pattern1.78409927
22MP0001486_abnormal_startle_reflex1.77717743
23MP0003880_abnormal_central_pattern1.73713396
24MP0006276_abnormal_autonomic_nervous1.71767041
25MP0003183_abnormal_peptide_metabolism1.70883956
26MP0001984_abnormal_olfaction1.62250514
27MP0002272_abnormal_nervous_system1.59835529
28MP0002876_abnormal_thyroid_physiology1.57849544
29MP0003646_muscle_fatigue1.57810168
30MP0002138_abnormal_hepatobiliary_system1.54453182
31MP0002735_abnormal_chemical_nociception1.53836173
32MP0004142_abnormal_muscle_tone1.51710047
33MP0003136_yellow_coat_color1.51691995
34MP0000631_abnormal_neuroendocrine_gland1.48977644
35MP0002837_dystrophic_cardiac_calcinosis1.42552738
36MP0000383_abnormal_hair_follicle1.39917848
37MP0008875_abnormal_xenobiotic_pharmacok1.38512072
38MP0005645_abnormal_hypothalamus_physiol1.38390607
39MP0003787_abnormal_imprinting1.38022205
40MP0001970_abnormal_pain_threshold1.35165176
41MP0002938_white_spotting1.33651676
42MP0002572_abnormal_emotion/affect_behav1.33429953
43MP0006072_abnormal_retinal_apoptosis1.32287554
44MP0003635_abnormal_synaptic_transmissio1.30776382
45MP0002638_abnormal_pupillary_reflex1.27842912
46MP0001986_abnormal_taste_sensitivity1.27611150
47MP0000372_irregular_coat_pigmentation1.26537552
48MP0004885_abnormal_endolymph1.26475690
49MP0002064_seizures1.23773490
50MP0005670_abnormal_white_adipose1.23015714
51MP0002733_abnormal_thermal_nociception1.21567592
52MP0000538_abnormal_urinary_bladder1.20747583
53MP0003878_abnormal_ear_physiology1.18525584
54MP0005377_hearing/vestibular/ear_phenot1.18525584
55MP0004742_abnormal_vestibular_system1.18405696
56MP0005174_abnormal_tail_pigmentation1.17969455
57MP0004084_abnormal_cardiac_muscle1.17490786
58MP0004133_heterotaxia1.16237056
59MP0002557_abnormal_social/conspecific_i1.15282040
60MP0001963_abnormal_hearing_physiology1.14880266
61MP0000230_abnormal_systemic_arterial1.14309458
62MP0002234_abnormal_pharynx_morphology1.11358504
63MP0003137_abnormal_impulse_conducting1.11137605
64MP0002067_abnormal_sensory_capabilities1.10479735
65MP0005410_abnormal_fertilization1.09484834
66MP0002734_abnormal_mechanical_nocicepti1.09155801
67MP0004215_abnormal_myocardial_fiber1.08525494
68MP0003879_abnormal_hair_cell1.07859668
69MP0006292_abnormal_olfactory_placode1.07402469
70MP0001664_abnormal_digestion1.06046722
71MP0002928_abnormal_bile_duct1.04942504
72MP0005085_abnormal_gallbladder_physiolo1.04363823
73MP0002063_abnormal_learning/memory/cond1.04332609
74MP0008995_early_reproductive_senescence1.03669050
75MP0004924_abnormal_behavior1.02669398
76MP0005386_behavior/neurological_phenoty1.02669398
77MP0003890_abnormal_embryonic-extraembry1.02138907
78MP0004147_increased_porphyrin_level1.02022032
79MP0001529_abnormal_vocalization1.00220494
80MP0003011_delayed_dark_adaptation0.99519986
81MP0003119_abnormal_digestive_system0.98179877
82MP0005195_abnormal_posterior_eye0.96960778
83MP0002752_abnormal_somatic_nervous0.95321138
84MP0005423_abnormal_somatic_nervous0.95124056
85MP0001873_stomach_inflammation0.92864961
86MP0005084_abnormal_gallbladder_morpholo0.92067999
87MP0003045_fibrosis0.89472762
88MP0003698_abnormal_male_reproductive0.89418523
89MP0002160_abnormal_reproductive_system0.88402411
90MP0002184_abnormal_innervation0.87950767
91MP0002229_neurodegeneration0.86070786
92MP0005220_abnormal_exocrine_pancreas0.85088709
93MP0005171_absent_coat_pigmentation0.84762826
94MP0003252_abnormal_bile_duct0.84550633
95MP0005167_abnormal_blood-brain_barrier0.83844667
96MP0004085_abnormal_heartbeat0.83257221
97MP0000026_abnormal_inner_ear0.83243568
98MP0000049_abnormal_middle_ear0.80988934
99MP0000778_abnormal_nervous_system0.80095350
100MP0002168_other_aberrant_phenotype0.79668733

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.63839678
2Pancreatic fibrosis (HP:0100732)4.34644525
3True hermaphroditism (HP:0010459)4.24260218
4Molar tooth sign on MRI (HP:0002419)3.92436238
5Abnormality of midbrain morphology (HP:0002418)3.92436238
6Absent/shortened dynein arms (HP:0200106)3.77855254
7Dynein arm defect of respiratory motile cilia (HP:0012255)3.77855254
8Nephronophthisis (HP:0000090)3.73850597
9Chronic hepatic failure (HP:0100626)3.62357279
10Hyperventilation (HP:0002883)3.48277620
11Cystic liver disease (HP:0006706)3.45164220
12Abnormality of the renal cortex (HP:0011035)3.43937238
13Abnormal ciliary motility (HP:0012262)3.34123315
14Decreased circulating renin level (HP:0003351)3.33640110
15Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.32018365
16Abnormality of the renal medulla (HP:0100957)3.29412680
17Congenital stationary night blindness (HP:0007642)3.27237306
18Attenuation of retinal blood vessels (HP:0007843)3.24989285
19Medial flaring of the eyebrow (HP:0010747)3.21462403
20Fibular aplasia (HP:0002990)3.15687611
21Fibular hypoplasia (HP:0003038)3.13271965
22Aplasia/Hypoplasia of the fovea (HP:0008060)3.08591544
23Hypoplasia of the fovea (HP:0007750)3.08591544
24Tubular atrophy (HP:0000092)3.08481569
25Abnormal respiratory motile cilium morphology (HP:0005938)3.08177491
26Abnormal respiratory epithelium morphology (HP:0012253)3.08177491
27Abnormal respiratory motile cilium physiology (HP:0012261)3.07634271
28Gaze-evoked nystagmus (HP:0000640)3.02615205
29Type II lissencephaly (HP:0007260)2.95265837
30Abolished electroretinogram (ERG) (HP:0000550)2.93828084
31Partial agenesis of the corpus callosum (HP:0001338)2.84975006
32Tubulointerstitial nephritis (HP:0001970)2.82948577
33Abnormal drinking behavior (HP:0030082)2.82565286
34Polydipsia (HP:0001959)2.82565286
35Gait imbalance (HP:0002141)2.68764763
36Bilateral microphthalmos (HP:0007633)2.67046697
37Bony spicule pigmentary retinopathy (HP:0007737)2.66400180
38Congenital primary aphakia (HP:0007707)2.61117161
39Rhinitis (HP:0012384)2.57004747
40Progressive cerebellar ataxia (HP:0002073)2.56900665
41Absent rod-and cone-mediated responses on ERG (HP:0007688)2.51069156
42Aplasia/Hypoplasia of the tongue (HP:0010295)2.47480554
43Abnormality of the fovea (HP:0000493)2.45969477
44Congenital hepatic fibrosis (HP:0002612)2.44387975
45Renal cortical cysts (HP:0000803)2.43546893
46Nephrogenic diabetes insipidus (HP:0009806)2.41633151
47Abnormal rod and cone electroretinograms (HP:0008323)2.40402306
48Focal seizures (HP:0007359)2.39075076
49Decreased central vision (HP:0007663)2.35133660
50Sclerocornea (HP:0000647)2.33372994
51Keratoconus (HP:0000563)2.32693487
52Increased corneal curvature (HP:0100692)2.32693487
53Genital tract atresia (HP:0001827)2.29835764
54Inability to walk (HP:0002540)2.27998568
55Genetic anticipation (HP:0003743)2.27097375
56Febrile seizures (HP:0002373)2.27050280
57Occipital encephalocele (HP:0002085)2.26706342
58Absent speech (HP:0001344)2.26118075
59Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.26003277
60Asymmetry of the thorax (HP:0001555)2.25387553
61Vaginal atresia (HP:0000148)2.22927208
62Anencephaly (HP:0002323)2.22135058
63Abnormality of alanine metabolism (HP:0010916)2.22066134
64Hyperalaninemia (HP:0003348)2.22066134
65Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.22066134
66Postaxial foot polydactyly (HP:0001830)2.21840726
67Congenital sensorineural hearing impairment (HP:0008527)2.20124465
68Aplasia/Hypoplasia of the fibula (HP:0006492)2.19939667
69Aplasia/Hypoplasia of the tibia (HP:0005772)2.16263149
70Bile duct proliferation (HP:0001408)2.15382777
71Abnormal biliary tract physiology (HP:0012439)2.15382777
72Tubulointerstitial abnormality (HP:0001969)2.15304601
73Stomach cancer (HP:0012126)2.14212073
74Progressive inability to walk (HP:0002505)2.13718402
75Hemiparesis (HP:0001269)2.13270244
76Polyuria (HP:0000103)2.12718628
77Decreased electroretinogram (ERG) amplitude (HP:0000654)2.08701121
78Focal motor seizures (HP:0011153)2.07535201
79Protruding tongue (HP:0010808)2.07421519
80Broad-based gait (HP:0002136)2.05866813
81Cerebellar dysplasia (HP:0007033)2.04844516
82Colon cancer (HP:0003003)2.04691617
83Broad ribs (HP:0000885)2.04567751
84Furrowed tongue (HP:0000221)2.04167191
85Constricted visual fields (HP:0001133)2.01371973
86Lissencephaly (HP:0001339)2.00883459
87Abnormality of renin-angiotensin system (HP:0000847)1.97356798
88Male pseudohermaphroditism (HP:0000037)1.96188410
89Dialeptic seizures (HP:0011146)1.92953594
90Concave nail (HP:0001598)1.92835256
91Chronic bronchitis (HP:0004469)1.92293208
92Narrow forehead (HP:0000341)1.92200138
93Enlarged kidneys (HP:0000105)1.91459078
94Aplasia/Hypoplasia of the spleen (HP:0010451)1.91358365
95Poor coordination (HP:0002370)1.90355398
96Pendular nystagmus (HP:0012043)1.88184539
97Asplenia (HP:0001746)1.82945088
98Chorioretinal atrophy (HP:0000533)1.81730374
99Fair hair (HP:0002286)1.81620641
100Oligohydramnios (HP:0001562)1.81082878

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK7.02331601
2BMPR1B3.08977363
3NUAK12.77709772
4MAP4K22.69786034
5ADRBK22.64845917
6WNK32.51623493
7CASK2.49797773
8ACVR1B2.49123560
9ZAK2.33091410
10GRK12.11362966
11INSRR1.99936448
12PINK11.92946554
13WNK41.88985755
14MAPK131.81756963
15OXSR11.70181829
16STK391.67226183
17MAP3K41.56735671
18TNIK1.55980603
19STK38L1.41613738
20EPHA41.40808323
21TAOK31.40294536
22TAF11.37669408
23DAPK21.37545543
24PAK31.32826034
25MKNK21.32560851
26NTRK31.27071962
27PRKG21.18507184
28MARK11.18208350
29MST41.17934920
30ADRBK11.15658353
31EPHA31.11282715
32TLK11.04881193
33VRK21.03274230
34FER1.02465026
35TXK1.02374683
36MUSK0.98934847
37PRKCG0.98858291
38BCR0.97739558
39PLK20.96882044
40PRKCE0.95688378
41TRIM280.93903372
42TGFBR10.92196443
43DYRK20.91139884
44CSNK1G20.88903364
45VRK10.86513488
46STK110.85906067
47PKN10.85108351
48TIE10.83828233
49PTK2B0.83577234
50TNK20.81836385
51MAP2K70.81135536
52TEC0.81124313
53MAPKAPK50.80376524
54GRK50.80249975
55PIK3CA0.79895587
56BRSK20.78234949
57HIPK20.76511677
58CSNK1A1L0.75714323
59CSNK1G10.75410065
60AKT30.74226993
61CSNK1G30.73281574
62NLK0.72085620
63MELK0.71445715
64FGFR20.66377435
65MAPK150.65596790
66PRKAA20.59655374
67STK30.57298143
68IKBKB0.56633479
69CAMKK20.55591854
70CAMK2A0.54463898
71ERBB30.54296957
72IRAK10.53608334
73SGK20.52572836
74PRKAA10.49716727
75MKNK10.48201281
76NTRK20.46539177
77CSNK1A10.44707132
78PRKCQ0.44628085
79ITK0.44377821
80DYRK1A0.43866995
81PLK30.43712995
82PRKG10.43654918
83PRKACA0.43334312
84CSNK1D0.42047955
85MAPKAPK30.41627263
86MAP2K10.41295512
87PIK3CG0.40803705
88PRKCA0.39946376
89KIT0.38254343
90PRKCI0.37890913
91MAP2K60.37472467
92CAMK10.37461594
93PHKG20.36870094
94PHKG10.36870094
95LIMK10.35034969
96MAP3K70.32954683
97IGF1R0.32089496
98ERBB20.31158712
99CDK80.30254004
100SGK2230.29575901

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047442.93218615
2Nicotine addiction_Homo sapiens_hsa050332.73204796
3alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.44267176
4Linoleic acid metabolism_Homo sapiens_hsa005912.38529644
5Nitrogen metabolism_Homo sapiens_hsa009102.37418848
6Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.24271440
7Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.22521495
8Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.18614087
9Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.16889778
10Butanoate metabolism_Homo sapiens_hsa006502.09895144
11Tryptophan metabolism_Homo sapiens_hsa003801.92573442
12Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.88755988
13Morphine addiction_Homo sapiens_hsa050321.87155733
14Circadian entrainment_Homo sapiens_hsa047131.84747664
15Olfactory transduction_Homo sapiens_hsa047401.81976963
16Ether lipid metabolism_Homo sapiens_hsa005651.73942845
17Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.72808225
18Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.69603849
19GABAergic synapse_Homo sapiens_hsa047271.68701071
20ABC transporters_Homo sapiens_hsa020101.66212892
21Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.65054816
22Taste transduction_Homo sapiens_hsa047421.61813823
23Glutamatergic synapse_Homo sapiens_hsa047241.55633547
24Primary bile acid biosynthesis_Homo sapiens_hsa001201.53258035
25Salivary secretion_Homo sapiens_hsa049701.51251664
26Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.51067632
27Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.50808199
28Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.50292834
29Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.48609699
30Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.47673260
31Retinol metabolism_Homo sapiens_hsa008301.41021807
32Chemical carcinogenesis_Homo sapiens_hsa052041.38730189
33Caffeine metabolism_Homo sapiens_hsa002321.37035509
34Basal transcription factors_Homo sapiens_hsa030221.35673275
35Selenocompound metabolism_Homo sapiens_hsa004501.34675344
36Serotonergic synapse_Homo sapiens_hsa047261.33962689
37Propanoate metabolism_Homo sapiens_hsa006401.33935389
38Steroid hormone biosynthesis_Homo sapiens_hsa001401.32595313
39Insulin secretion_Homo sapiens_hsa049111.23082030
40Homologous recombination_Homo sapiens_hsa034401.22648730
41Glycerolipid metabolism_Homo sapiens_hsa005611.14539691
42Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.12382910
43Ovarian steroidogenesis_Homo sapiens_hsa049131.09479808
44Sphingolipid metabolism_Homo sapiens_hsa006001.09094510
45beta-Alanine metabolism_Homo sapiens_hsa004101.08621165
46Maturity onset diabetes of the young_Homo sapiens_hsa049501.08377721
47Calcium signaling pathway_Homo sapiens_hsa040201.06911166
48Histidine metabolism_Homo sapiens_hsa003401.00172382
49Protein export_Homo sapiens_hsa030601.00026030
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.96277824
51Fanconi anemia pathway_Homo sapiens_hsa034600.95747466
52Peroxisome_Homo sapiens_hsa041460.94821974
53Intestinal immune network for IgA production_Homo sapiens_hsa046720.94302556
54Oxidative phosphorylation_Homo sapiens_hsa001900.94057951
55Arachidonic acid metabolism_Homo sapiens_hsa005900.91282154
56Long-term depression_Homo sapiens_hsa047300.87594247
57Dopaminergic synapse_Homo sapiens_hsa047280.84559189
58One carbon pool by folate_Homo sapiens_hsa006700.83040397
59Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.82843018
60Fatty acid degradation_Homo sapiens_hsa000710.82532360
61Cholinergic synapse_Homo sapiens_hsa047250.82479344
62RNA polymerase_Homo sapiens_hsa030200.80517126
63RNA degradation_Homo sapiens_hsa030180.79097427
64Fat digestion and absorption_Homo sapiens_hsa049750.77526618
65Huntingtons disease_Homo sapiens_hsa050160.74243495
66Gastric acid secretion_Homo sapiens_hsa049710.71694627
67Renin secretion_Homo sapiens_hsa049240.63582762
68Dorso-ventral axis formation_Homo sapiens_hsa043200.63016088
69cAMP signaling pathway_Homo sapiens_hsa040240.60898729
70Cardiac muscle contraction_Homo sapiens_hsa042600.59420325
71Aldosterone synthesis and secretion_Homo sapiens_hsa049250.58909468
72Parkinsons disease_Homo sapiens_hsa050120.58333315
73Amphetamine addiction_Homo sapiens_hsa050310.57911034
74Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.55869558
75Primary immunodeficiency_Homo sapiens_hsa053400.54191482
76Collecting duct acid secretion_Homo sapiens_hsa049660.53585991
77Cyanoamino acid metabolism_Homo sapiens_hsa004600.51558562
78Regulation of autophagy_Homo sapiens_hsa041400.51523115
79Oxytocin signaling pathway_Homo sapiens_hsa049210.51490214
80Pentose and glucuronate interconversions_Homo sapiens_hsa000400.50735960
81Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.50306522
82Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.48983850
83Mineral absorption_Homo sapiens_hsa049780.48832329
84Metabolic pathways_Homo sapiens_hsa011000.46009507
85Cocaine addiction_Homo sapiens_hsa050300.45508178
86Glycerophospholipid metabolism_Homo sapiens_hsa005640.45423312
87Circadian rhythm_Homo sapiens_hsa047100.44372717
88Asthma_Homo sapiens_hsa053100.42174667
89cGMP-PKG signaling pathway_Homo sapiens_hsa040220.39260868
90SNARE interactions in vesicular transport_Homo sapiens_hsa041300.38676183
91Alzheimers disease_Homo sapiens_hsa050100.38008421
92Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.35548713
93Carbohydrate digestion and absorption_Homo sapiens_hsa049730.35079573
94Fatty acid metabolism_Homo sapiens_hsa012120.34261479
95Purine metabolism_Homo sapiens_hsa002300.32153171
96Fatty acid biosynthesis_Homo sapiens_hsa000610.30166151
97Sulfur relay system_Homo sapiens_hsa041220.29976470
98Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.29760632
99Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.29438047
100Pancreatic secretion_Homo sapiens_hsa049720.29176618

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