C2ORF71

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





Description: The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1acrosome reaction (GO:0007340)8.81159861
2retinal cone cell development (GO:0046549)8.72597692
3retinal rod cell development (GO:0046548)8.67466064
4sperm motility (GO:0030317)8.49690266
5fusion of sperm to egg plasma membrane (GO:0007342)7.55490019
6sperm capacitation (GO:0048240)6.51891800
7multicellular organism reproduction (GO:0032504)6.27138698
8microtubule depolymerization (GO:0007019)5.92307847
9spermatid development (GO:0007286)5.81611161
10chromosome condensation (GO:0030261)5.76317148
11response to pheromone (GO:0019236)5.71201105
12plasma membrane fusion (GO:0045026)5.60379777
13DNA packaging (GO:0006323)5.56063454
14spermatid nucleus differentiation (GO:0007289)5.50710809
15detection of light stimulus involved in sensory perception (GO:0050962)5.45586761
16detection of light stimulus involved in visual perception (GO:0050908)5.45586761
17reproduction (GO:0000003)5.44303768
18sperm-egg recognition (GO:0035036)5.39072435
19microtubule polymerization or depolymerization (GO:0031109)5.35120286
20single strand break repair (GO:0000012)5.31917775
21cilium or flagellum-dependent cell motility (GO:0001539)5.27138190
22calcium ion-dependent exocytosis (GO:0017156)5.21106036
23protein polyglutamylation (GO:0018095)5.01765061
24establishment of protein localization to Golgi (GO:0072600)5.01417633
25protein targeting to Golgi (GO:0000042)5.01148596
26binding of sperm to zona pellucida (GO:0007339)4.88756336
27eye photoreceptor cell development (GO:0042462)4.82942538
28negative regulation of inclusion body assembly (GO:0090084)4.80554563
29retrograde transport, vesicle recycling within Golgi (GO:0000301)4.76603173
30axonemal dynein complex assembly (GO:0070286)4.75756243
31photoreceptor cell development (GO:0042461)4.72440387
32microtubule severing (GO:0051013)4.71448293
33spermatogenesis (GO:0007283)4.65409723
34male gamete generation (GO:0048232)4.63473200
35photoreceptor cell maintenance (GO:0045494)4.61631868
36cell-cell recognition (GO:0009988)4.55360472
37gamete generation (GO:0007276)4.27206308
38phosphatidylethanolamine biosynthetic process (GO:0006646)4.09783516
39positive regulation of Rab GTPase activity (GO:0032851)4.08451856
40regulation of Rab GTPase activity (GO:0032313)4.08451856
41sexual reproduction (GO:0019953)4.02736726
42centriole replication (GO:0007099)4.02217774
43single fertilization (GO:0007338)3.94388123
44cell differentiation involved in metanephros development (GO:0072202)3.94151895
45rRNA methylation (GO:0031167)3.86575689
46phosphatidylethanolamine metabolic process (GO:0046337)3.86115587
47musculoskeletal movement (GO:0050881)3.75934776
48multicellular organismal movement (GO:0050879)3.75934776
49motile cilium assembly (GO:0044458)3.72452861
50cellular ketone body metabolic process (GO:0046950)3.71459316
51protein localization to Golgi apparatus (GO:0034067)3.70437944
52nephron epithelium morphogenesis (GO:0072088)3.66634474
53nephron tubule morphogenesis (GO:0072078)3.66634474
54* visual perception (GO:0007601)3.62828606
55* sensory perception of light stimulus (GO:0050953)3.60681781
56regulation of female gonad development (GO:2000194)3.57648707
57germ cell development (GO:0007281)3.55323239
58histone H3-K9 demethylation (GO:0033169)3.53600497
59regulation of transcription involved in cell fate commitment (GO:0060850)3.50311544
60centriole assembly (GO:0098534)3.49257352
61regulation of cilium movement (GO:0003352)3.47890400
62fertilization (GO:0009566)3.45926415
63cellular process involved in reproduction in multicellular organism (GO:0022412)3.40019929
64multicellular organismal reproductive process (GO:0048609)3.37342011
65epithelial cilium movement (GO:0003351)3.33507031
66positive regulation of gastrulation (GO:2000543)3.32456150
67positive regulation of guanylate cyclase activity (GO:0031284)3.31426006
68cilium movement (GO:0003341)3.31287137
69ketone body metabolic process (GO:1902224)3.24964662
70homeostasis of number of cells within a tissue (GO:0048873)3.22457809
71piRNA metabolic process (GO:0034587)3.15772716
72RNA destabilization (GO:0050779)3.15382401
73nucleus organization (GO:0006997)3.15275713
74regulation of guanylate cyclase activity (GO:0031282)3.06085335
75rRNA modification (GO:0000154)3.04961486
76negative regulation of Rho protein signal transduction (GO:0035024)3.03344204
77microtubule nucleation (GO:0007020)3.03342540
78regulation of inclusion body assembly (GO:0090083)3.03328214
79cerebral cortex neuron differentiation (GO:0021895)2.97121364
80cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.94317006
81DNA methylation involved in gamete generation (GO:0043046)2.93064245
82cranial nerve morphogenesis (GO:0021602)2.90196040
83seminiferous tubule development (GO:0072520)2.89443207
84regulation of centriole replication (GO:0046599)2.81745736
85cell wall macromolecule metabolic process (GO:0044036)2.76428270
86chromatin silencing (GO:0006342)2.76222981
87inner ear receptor cell differentiation (GO:0060113)2.76108835
88organic cation transport (GO:0015695)2.75272825
89regulation of somitogenesis (GO:0014807)2.75146431
90neuroblast proliferation (GO:0007405)2.72596851
91regulation of rhodopsin mediated signaling pathway (GO:0022400)2.70610921
92protein-chromophore linkage (GO:0018298)2.69481367
93response to acidic pH (GO:0010447)2.67125199
94regulation of acrosome reaction (GO:0060046)2.66858488
95cellular response to pH (GO:0071467)2.64606737
96glomerular visceral epithelial cell development (GO:0072015)2.64506445
97Golgi to endosome transport (GO:0006895)2.63234528
98cell-cell junction maintenance (GO:0045217)2.62485591
99cell recognition (GO:0008037)2.60725248
100detection of light stimulus (GO:0009583)2.60274604

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.04855031
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.56132817
3GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.54068065
4MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.46892360
5GBX2_23144817_ChIP-Seq_PC3_Human2.26496345
6POU5F1_26923725_Chip-Seq_MESODERM_Mouse2.13313069
7TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.13313069
8IRF4_20064451_ChIP-Seq_CD4+T_Mouse2.06433912
9CBP_20019798_ChIP-Seq_JUKART_Human2.06433912
10CTBP2_25329375_ChIP-Seq_LNCAP_Human2.06015417
11DROSHA_22980978_ChIP-Seq_HELA_Human2.05724746
12CTBP1_25329375_ChIP-Seq_LNCAP_Human1.99799892
13PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.78496015
14FUS_26573619_Chip-Seq_HEK293_Human1.74572710
15SMAD3_21741376_ChIP-Seq_EPCs_Human1.74438593
16UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.73067311
17ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.70003226
18ER_23166858_ChIP-Seq_MCF-7_Human1.65114022
19SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.62636284
20SUZ12_27294783_Chip-Seq_ESCs_Mouse1.60095856
21SMAD4_21799915_ChIP-Seq_A2780_Human1.59592344
22P300_19829295_ChIP-Seq_ESCs_Human1.58374754
23TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.58211343
24TAF15_26573619_Chip-Seq_HEK293_Human1.53897536
25ARNT_22903824_ChIP-Seq_MCF-7_Human1.53020719
26AR_25329375_ChIP-Seq_VCAP_Human1.51088304
27EZH2_27294783_Chip-Seq_ESCs_Mouse1.49722800
28WDR5_24793694_ChIP-Seq_LNCAP_Human1.49588604
29TBL1_22424771_ChIP-Seq_293T_Human1.46105420
30TCF4_18268006_ChIP-ChIP_LS174T_Human1.43017089
31TOP2B_26459242_ChIP-Seq_MCF-7_Human1.41078535
32SMAD4_21741376_ChIP-Seq_EPCs_Human1.40498674
33STAT3_23295773_ChIP-Seq_U87_Human1.38470265
34REST_21632747_ChIP-Seq_MESCs_Mouse1.38091484
35NFYB_21822215_ChIP-Seq_K562_Human1.37562449
36EZH2_27304074_Chip-Seq_ESCs_Mouse1.36794922
37* CBX2_22325352_ChIP-Seq_293T-Rex_Human1.35059255
38SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.35027870
39JARID2_20075857_ChIP-Seq_MESCs_Mouse1.33539692
40AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.32449994
41SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.32069032
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.31637345
43* ETV1_20927104_ChIP-Seq_GIST48_Human1.31590317
44TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.30824044
45BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.30805304
46* SMAD4_21741376_ChIP-Seq_HESCs_Human1.28976379
47AHR_22903824_ChIP-Seq_MCF-7_Human1.28910335
48VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.28041725
49HNFA_21074721_ChIP-Seq_CACO-2_Human1.27196628
50EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.26588854
51CBX2_27304074_Chip-Seq_ESCs_Mouse1.26325507
52TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25545516
53AR_21572438_ChIP-Seq_LNCaP_Human1.25520106
54MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.24191237
55ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.22939449
56CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.21822147
57SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.21373481
58EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.20782093
59RUNX2_22187159_ChIP-Seq_PCA_Human1.20721031
60SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.20207442
61NFYA_21822215_ChIP-Seq_K562_Human1.19825332
62SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.19519509
63SMAD3_21741376_ChIP-Seq_ESCs_Human1.19004459
64KDM2B_26808549_Chip-Seq_REH_Human1.18771547
65PHF8_20622853_ChIP-Seq_HELA_Human1.17984023
66PCGF4_22325352_ChIP-Seq_293T-Rex_Human1.17168533
67POU3F2_20337985_ChIP-ChIP_501MEL_Human1.17166547
68* RBPJ_21746931_ChIP-Seq_IB4_Human1.16654121
69TCF4_23295773_ChIP-Seq_U87_Human1.13946985
70RXR_22108803_ChIP-Seq_LS180_Human1.13686467
71SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13361703
72CTCF_27219007_Chip-Seq_Bcells_Human1.11952066
73JARID2_20064375_ChIP-Seq_MESCs_Mouse1.11230122
74MTF2_20144788_ChIP-Seq_MESCs_Mouse1.11043627
75ZNF217_24962896_ChIP-Seq_MCF-7_Human1.10021233
76BMI1_23680149_ChIP-Seq_NPCS_Mouse1.09404514
77RNF2_27304074_Chip-Seq_ESCs_Mouse1.09083726
78GATA3_21878914_ChIP-Seq_MCF-7_Human1.08425541
79NANOG_18555785_Chip-Seq_ESCs_Mouse1.08258617
80OCT1_27270436_Chip-Seq_PROSTATE_Human1.08202738
81TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.07606097
82SUZ12_27294783_Chip-Seq_NPCs_Mouse1.06894355
83CBP_21632823_ChIP-Seq_H3396_Human1.06466105
84MYC_19829295_ChIP-Seq_ESCs_Human1.06272027
85GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.05872773
86PRDM14_20953172_ChIP-Seq_ESCs_Human1.05844006
87SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.05771759
88EED_16625203_ChIP-ChIP_MESCs_Mouse1.04793662
89CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.04626687
90CJUN_26792858_Chip-Seq_BT549_Human1.04511891
91TP53_18474530_ChIP-ChIP_U2OS_Human1.04074231
92NR3C1_21868756_ChIP-Seq_MCF10A_Human1.03792171
93TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.03426092
94KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.02962051
95ETV2_25802403_ChIP-Seq_MESCs_Mouse1.02627032
96PIAS1_25552417_ChIP-Seq_VCAP_Human1.02526751
97GATA6_21074721_ChIP-Seq_CACO-2_Human1.02191872
98AUTS2_25519132_ChIP-Seq_293T-REX_Human1.01120336
99SOX2_21211035_ChIP-Seq_LN229_Gbm1.00098837
100TAF2_19829295_ChIP-Seq_ESCs_Human0.99933022

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization7.10718760
2MP0003011_delayed_dark_adaptation5.03193149
3MP0005377_hearing/vestibular/ear_phenot4.72696773
4MP0003878_abnormal_ear_physiology4.72696773
5MP0002822_catalepsy4.29345093
6MP0005248_abnormal_Harderian_gland3.63635441
7MP0005551_abnormal_eye_electrophysiolog3.61158111
8MP0005253_abnormal_eye_physiology3.52241528
9MP0005670_abnormal_white_adipose3.35456656
10MP0003879_abnormal_hair_cell2.90127196
11MP0003698_abnormal_male_reproductive2.84150779
12MP0005423_abnormal_somatic_nervous2.70809496
13MP0001346_abnormal_lacrimal_gland2.53070752
14MP0001929_abnormal_gametogenesis2.44124621
15MP0002234_abnormal_pharynx_morphology2.21114458
16MP0001485_abnormal_pinna_reflex2.12696742
17MP0006292_abnormal_olfactory_placode1.95863744
18MP0001986_abnormal_taste_sensitivity1.95406210
19MP0005195_abnormal_posterior_eye1.90227735
20MP0003646_muscle_fatigue1.88870751
21MP0003718_maternal_effect1.87202466
22MP0001324_abnormal_eye_pigmentation1.81885871
23MP0004742_abnormal_vestibular_system1.76421546
24MP0001486_abnormal_startle_reflex1.74894686
25MP0005391_vision/eye_phenotype1.74213659
26MP0002229_neurodegeneration1.67244885
27MP0002161_abnormal_fertility/fecundity1.61435921
28MP0006072_abnormal_retinal_apoptosis1.58777414
29MP0001963_abnormal_hearing_physiology1.40959654
30MP0005647_abnormal_sex_gland1.33220684
31MP0000026_abnormal_inner_ear1.27523928
32MP0004036_abnormal_muscle_relaxation1.25757398
33MP0001348_abnormal_lacrimal_gland1.25680895
34MP0002752_abnormal_somatic_nervous1.25546240
35MP0002272_abnormal_nervous_system1.25171163
36MP0003136_yellow_coat_color1.22161749
37MP0002638_abnormal_pupillary_reflex1.18353736
38MP0002735_abnormal_chemical_nociception1.16086345
39MP0002127_abnormal_cardiovascular_syste1.15420886
40MP0002067_abnormal_sensory_capabilities1.10624233
41MP0006276_abnormal_autonomic_nervous1.09432299
42MP0005187_abnormal_penis_morphology1.08986926
43MP0008789_abnormal_olfactory_epithelium1.05950233
44MP0002210_abnormal_sex_determination1.04819950
45MP0004510_myositis1.04331392
46MP0004019_abnormal_vitamin_homeostasis0.98453902
47MP0002697_abnormal_eye_size0.97166336
48MP0002882_abnormal_neuron_morphology0.96938699
49MP0005499_abnormal_olfactory_system0.95056606
50MP0005394_taste/olfaction_phenotype0.95056606
51MP0002249_abnormal_larynx_morphology0.94089132
52MP0009046_muscle_twitch0.92555858
53MP0004085_abnormal_heartbeat0.90358896
54MP0005395_other_phenotype0.89822552
55MP0002572_abnormal_emotion/affect_behav0.89049437
56MP0002557_abnormal_social/conspecific_i0.88942897
57MP0000653_abnormal_sex_gland0.88560074
58MP0004084_abnormal_cardiac_muscle0.86805548
59MP0000569_abnormal_digit_pigmentation0.84648496
60MP0001145_abnormal_male_reproductive0.83773282
61MP0009745_abnormal_behavioral_response0.83190507
62MP0003633_abnormal_nervous_system0.83019363
63MP0010030_abnormal_orbit_morphology0.82908805
64MP0000678_abnormal_parathyroid_gland0.82671337
65MP0000955_abnormal_spinal_cord0.82456053
66MP0004859_abnormal_synaptic_plasticity0.80885019
67MP0002734_abnormal_mechanical_nocicepti0.80499261
68MP0002138_abnormal_hepatobiliary_system0.79754001
69MP0001440_abnormal_grooming_behavior0.78711535
70MP0003329_amyloid_beta_deposits0.76910717
71MP0005197_abnormal_uvea_morphology0.76102079
72MP0001968_abnormal_touch/_nociception0.74199282
73MP0003631_nervous_system_phenotype0.73788802
74MP0003183_abnormal_peptide_metabolism0.72575439
75MP0004270_analgesia0.71579805
76MP0003635_abnormal_synaptic_transmissio0.70745444
77MP0000631_abnormal_neuroendocrine_gland0.70346006
78MP0002653_abnormal_ependyma_morphology0.68894756
79MP0001765_abnormal_ion_homeostasis0.68036224
80MP0005666_abnormal_adipose_tissue0.67051519
81MP0000049_abnormal_middle_ear0.64687742
82MP0001286_abnormal_eye_development0.63229159
83MP0002063_abnormal_learning/memory/cond0.62824166
84MP0001984_abnormal_olfaction0.62620473
85MP0002102_abnormal_ear_morphology0.60599537
86MP0002090_abnormal_vision0.59964690
87MP0003632_abnormal_nervous_system0.59276794
88MP0003890_abnormal_embryonic-extraembry0.58714713
89MP0000778_abnormal_nervous_system0.58129503
90MP0004885_abnormal_endolymph0.57062460
91MP0001970_abnormal_pain_threshold0.56864499
92MP0000534_abnormal_ureter_morphology0.55696138
93MP0006138_congestive_heart_failure0.54852915
94MP0002064_seizures0.54591117
95MP0009115_abnormal_fat_cell0.53660269
96MP0001501_abnormal_sleep_pattern0.53150978
97MP0001879_abnormal_lymphatic_vessel0.52378612
98MP0003699_abnormal_female_reproductive0.50493877
99MP0003137_abnormal_impulse_conducting0.47228118
100MP0001299_abnormal_eye_distance/0.46852113

Predicted human phenotypes

RankGene SetZ-score
1Posterior subcapsular cataract (HP:0007787)7.74447334
2* Bony spicule pigmentary retinopathy (HP:0007737)7.17358378
3Subcapsular cataract (HP:0000523)6.80709331
4Central scotoma (HP:0000603)6.62004622
5Scotoma (HP:0000575)6.37813530
6* Attenuation of retinal blood vessels (HP:0007843)5.78025149
7Abnormality of macular pigmentation (HP:0008002)5.42311041
8Congenital stationary night blindness (HP:0007642)5.12570120
9Severe visual impairment (HP:0001141)4.88468099
10Tubulointerstitial nephritis (HP:0001970)4.63139998
11Cone-rod dystrophy (HP:0000548)4.54566372
12Chronic hepatic failure (HP:0100626)4.53351450
13Chorioretinal atrophy (HP:0000533)4.18772534
14Polar cataract (HP:0010696)4.18501794
15Abnormal rod and cone electroretinograms (HP:0008323)4.15592470
16Congenital sensorineural hearing impairment (HP:0008527)3.88677588
17Absent/shortened dynein arms (HP:0200106)3.81434971
18Dynein arm defect of respiratory motile cilia (HP:0012255)3.81434971
19Decreased central vision (HP:0007663)3.76137156
20Asymmetric septal hypertrophy (HP:0001670)3.58315908
21Hyperkalemia (HP:0002153)3.57926262
22Hypoplastic ischia (HP:0003175)3.47690760
23Constricted visual fields (HP:0001133)3.42668848
24Abolished electroretinogram (ERG) (HP:0000550)3.41512227
25* Type II diabetes mellitus (HP:0005978)3.38449459
26Abnormal ciliary motility (HP:0012262)3.21340237
27* Photophobia (HP:0000613)3.19343681
28Abnormality of the ischium (HP:0003174)3.16202527
29Septo-optic dysplasia (HP:0100842)3.14257734
30Male infertility (HP:0003251)3.13447904
31Abnormal respiratory motile cilium physiology (HP:0012261)3.07596370
32Abdominal situs inversus (HP:0003363)2.94855857
33Abnormality of abdominal situs (HP:0011620)2.94855857
34Enlarged epiphyses (HP:0010580)2.90210792
35Infertility (HP:0000789)2.89379388
36Bell-shaped thorax (HP:0001591)2.86241834
37Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.80376372
38Progressive cerebellar ataxia (HP:0002073)2.80212355
39Choroideremia (HP:0001139)2.79047453
40Pendular nystagmus (HP:0012043)2.78942992
41Optic nerve hypoplasia (HP:0000609)2.67384769
42Intestinal atresia (HP:0011100)2.67369771
43Hypoalphalipoproteinemia (HP:0003233)2.66957910
44Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.63817824
45Abnormal respiratory motile cilium morphology (HP:0005938)2.60869955
46Abnormal respiratory epithelium morphology (HP:0012253)2.60869955
47Esophageal atresia (HP:0002032)2.52526495
48Myokymia (HP:0002411)2.51074582
49Tubulointerstitial abnormality (HP:0001969)2.49794849
50Insulin-resistant diabetes mellitus (HP:0000831)2.47961204
51Nephronophthisis (HP:0000090)2.45547171
52Abnormality of dental color (HP:0011073)2.43930414
53Supernumerary spleens (HP:0009799)2.42091674
54Renovascular hypertension (HP:0100817)2.32258977
55Portal hypertension (HP:0001409)2.31963012
56Facial shape deformation (HP:0011334)2.27218743
57Potter facies (HP:0002009)2.27218743
58Horizontal nystagmus (HP:0000666)2.24526353
59Progressive sensorineural hearing impairment (HP:0000408)2.23320799
60Macular degeneration (HP:0000608)2.23246606
61Abnormality of the renal medulla (HP:0100957)2.21579019
62Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.21101889
63Abnormality of the hepatic vasculature (HP:0006707)2.19285273
64Retinitis pigmentosa (HP:0000510)2.16780458
65Aplasia/Hypoplasia of the earlobes (HP:0009906)2.16749735
66Depressed nasal tip (HP:0000437)2.14608346
67Truncal obesity (HP:0001956)2.12346767
68Congenital malformation of the right heart (HP:0011723)2.11566143
69Double outlet right ventricle (HP:0001719)2.11566143
70Rhinitis (HP:0012384)2.09360270
71Absent rod-and cone-mediated responses on ERG (HP:0007688)2.06318223
72Decreased electroretinogram (ERG) amplitude (HP:0000654)2.04343376
73Abnormality of potassium homeostasis (HP:0011042)2.03001361
74Dyschromatopsia (HP:0007641)2.02153477
75Pigmentary retinal degeneration (HP:0001146)2.01749298
76Resting tremor (HP:0002322)1.98710484
77Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.94623967
78Abnormality of the pubic bones (HP:0003172)1.94454249
79Impulsivity (HP:0100710)1.92873560
80Abnormal drinking behavior (HP:0030082)1.91973594
81Polydipsia (HP:0001959)1.91973594
82Azoospermia (HP:0000027)1.90750505
83Abnormal spermatogenesis (HP:0008669)1.90438182
84Growth hormone deficiency (HP:0000824)1.88961184
85Bradycardia (HP:0001662)1.87641940
86Keratoconus (HP:0000563)1.80501781
87Increased corneal curvature (HP:0100692)1.80501781
88Gastrointestinal atresia (HP:0002589)1.79314100
89Anterior segment dysgenesis (HP:0007700)1.78262915
90Oligodactyly (hands) (HP:0001180)1.77913625
91Ventricular tachycardia (HP:0004756)1.73629726
92Postural instability (HP:0002172)1.73462779
93Generalized aminoaciduria (HP:0002909)1.72770372
94Abnormal urine output (HP:0012590)1.69038339
95Upper limb muscle weakness (HP:0003484)1.67468921
96Vitreoretinal degeneration (HP:0000655)1.64871716
97Nasal polyposis (HP:0100582)1.63667671
98Hypophosphatemic rickets (HP:0004912)1.61297330
99Stage 5 chronic kidney disease (HP:0003774)1.61056861
100Febrile seizures (HP:0002373)1.60740706

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PLK45.68473082
2INSRR3.89622484
3DDR23.80371031
4CAMK1G3.63248222
5CAMK1D3.23054563
6TESK12.86639279
7BRD42.81454535
8MAP4K22.62071948
9PNCK2.61369883
10WNK12.21667925
11MAPK152.21057876
12STK382.19927023
13PRKD32.11184393
14STK38L2.06174043
15PLK22.01071780
16CAMKK21.96653960
17GRK11.92537090
18MAP3K91.88575095
19PIK3CG1.83601433
20OBSCN1.79011851
21MARK11.56464092
22NEK61.29080165
23BMPR1B1.27925844
24CAMK41.27402193
25NTRK31.25370313
26PDPK11.21580322
27FRK1.19770102
28AKT31.19319323
29PDK11.17852154
30STK391.17657547
31CDK121.17128498
32DYRK1B1.16005772
33LATS11.15011730
34ACVR1B1.12144665
35SGK21.11470505
36CAMK11.06218668
37SGK4941.01487634
38SGK2231.01487634
39WNK41.01365450
40MAP3K130.99594979
41PRKG10.91457960
42ARAF0.91132610
43MST1R0.90029103
44GRK70.89224046
45PTK2B0.83080069
46CDK70.80426946
47TGFBR10.75668139
48PRKCG0.72169331
49EPHB20.71762161
50TYRO30.71295717
51MET0.70813686
52PKN10.69684517
53OXSR10.68881583
54MUSK0.68707572
55PRKAA20.68392955
56MAP3K40.67251753
57MARK20.66154469
58BRAF0.65242573
59NTRK20.64828731
60MTOR0.64402752
61CAMKK10.63273885
62CAMK2A0.61869071
63KSR20.61095268
64ICK0.60172465
65SGK10.59060872
66PHKG20.55154607
67PHKG10.55154607
68BLK0.54422871
69TIE10.53251728
70EPHA30.52729900
71RPS6KA20.52633763
72RPS6KA60.50080550
73PRKCZ0.50060561
74TTN0.49929927
75GSK3B0.48099390
76RPS6KA10.47472047
77SGK30.46816559
78PRKAA10.46762739
79ROCK10.46194431
80ADRBK20.43622268
81CDK30.41867933
82UHMK10.41747933
83MAPK10.37850729
84PRKACA0.37633902
85SIK20.37349111
86RPS6KL10.35394937
87RPS6KC10.35394937
88MAPK100.35384337
89CDK20.34967590
90DYRK1A0.33859653
91PRKCB0.33603413
92PRKG20.33375680
93PRKCE0.33004525
94MAP3K70.30410701
95MAPK130.30039918
96DYRK30.29902543
97PRKACB0.29813031
98RPS6KA30.28843042
99TLK10.28543235
100CDK10.26624240

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047444.43234143
2Fatty acid biosynthesis_Homo sapiens_hsa000614.13653110
3Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.53791438
4Circadian rhythm_Homo sapiens_hsa047102.88852287
5Olfactory transduction_Homo sapiens_hsa047402.87943580
6Taste transduction_Homo sapiens_hsa047422.71511731
7Nicotine addiction_Homo sapiens_hsa050332.34691674
8Glutamatergic synapse_Homo sapiens_hsa047242.18554545
9Morphine addiction_Homo sapiens_hsa050322.12315740
10ABC transporters_Homo sapiens_hsa020102.10685677
11Butanoate metabolism_Homo sapiens_hsa006502.08878278
12Circadian entrainment_Homo sapiens_hsa047131.85537557
13Dorso-ventral axis formation_Homo sapiens_hsa043201.81993042
14GABAergic synapse_Homo sapiens_hsa047271.81619782
15Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.75493233
16Cholinergic synapse_Homo sapiens_hsa047251.65463108
17Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.58462834
18PPAR signaling pathway_Homo sapiens_hsa033201.49662846
19Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.40859939
20Type II diabetes mellitus_Homo sapiens_hsa049301.40371264
21Ovarian steroidogenesis_Homo sapiens_hsa049131.31360202
22Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.27605872
23Aldosterone synthesis and secretion_Homo sapiens_hsa049251.26836520
24Salivary secretion_Homo sapiens_hsa049701.26666195
25Calcium signaling pathway_Homo sapiens_hsa040201.21546439
26Serotonergic synapse_Homo sapiens_hsa047261.21171503
27cAMP signaling pathway_Homo sapiens_hsa040241.14108060
28Glycerophospholipid metabolism_Homo sapiens_hsa005641.11042081
29Insulin secretion_Homo sapiens_hsa049111.08789823
30Vascular smooth muscle contraction_Homo sapiens_hsa042701.04335855
31Adipocytokine signaling pathway_Homo sapiens_hsa049201.02746328
32Gastric acid secretion_Homo sapiens_hsa049711.01474478
33Hedgehog signaling pathway_Homo sapiens_hsa043400.96759592
34Protein digestion and absorption_Homo sapiens_hsa049740.96544182
35Bile secretion_Homo sapiens_hsa049760.96298954
36Fatty acid degradation_Homo sapiens_hsa000710.95999183
37Cardiac muscle contraction_Homo sapiens_hsa042600.93038073
38Fatty acid metabolism_Homo sapiens_hsa012120.92900364
39Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.89804794
40Renin secretion_Homo sapiens_hsa049240.89081734
41Inositol phosphate metabolism_Homo sapiens_hsa005620.86818798
42Oxytocin signaling pathway_Homo sapiens_hsa049210.85664422
43Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.83977385
44Primary bile acid biosynthesis_Homo sapiens_hsa001200.83858967
45Synaptic vesicle cycle_Homo sapiens_hsa047210.82061392
46Alcoholism_Homo sapiens_hsa050340.82027897
47Thyroid hormone signaling pathway_Homo sapiens_hsa049190.81215598
48Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.80860448
49Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.80060683
50Linoleic acid metabolism_Homo sapiens_hsa005910.79990955
51Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.79113685
52Cocaine addiction_Homo sapiens_hsa050300.78424419
53Estrogen signaling pathway_Homo sapiens_hsa049150.77660205
54Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.77551108
55Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.77244360
56cGMP-PKG signaling pathway_Homo sapiens_hsa040220.76965906
57Dilated cardiomyopathy_Homo sapiens_hsa054140.76265522
58Pancreatic secretion_Homo sapiens_hsa049720.75853471
59Carbohydrate digestion and absorption_Homo sapiens_hsa049730.71670409
60Lysine degradation_Homo sapiens_hsa003100.70281789
61Glycerolipid metabolism_Homo sapiens_hsa005610.65212710
62Notch signaling pathway_Homo sapiens_hsa043300.65105567
63Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.63535290
64Phosphatidylinositol signaling system_Homo sapiens_hsa040700.63178057
65Dopaminergic synapse_Homo sapiens_hsa047280.60772985
66Amphetamine addiction_Homo sapiens_hsa050310.60142083
67Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.59652189
68Gap junction_Homo sapiens_hsa045400.57656843
69alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.57502568
70Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.54472754
71Oocyte meiosis_Homo sapiens_hsa041140.53961341
72Tight junction_Homo sapiens_hsa045300.52617304
73Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.52588551
74ECM-receptor interaction_Homo sapiens_hsa045120.51851191
75Maturity onset diabetes of the young_Homo sapiens_hsa049500.49705840
76Nitrogen metabolism_Homo sapiens_hsa009100.49580814
77Tryptophan metabolism_Homo sapiens_hsa003800.49235477
78Retinol metabolism_Homo sapiens_hsa008300.47964999
79Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.46624596
80Long-term depression_Homo sapiens_hsa047300.46604444
81Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.46060305
82Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.45783667
83Type I diabetes mellitus_Homo sapiens_hsa049400.45096231
84Fat digestion and absorption_Homo sapiens_hsa049750.44389881
85Thyroid hormone synthesis_Homo sapiens_hsa049180.43883634
86Arginine and proline metabolism_Homo sapiens_hsa003300.43804867
87Phospholipase D signaling pathway_Homo sapiens_hsa040720.43765788
88Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.42086902
89Basal transcription factors_Homo sapiens_hsa030220.41955417
90MAPK signaling pathway_Homo sapiens_hsa040100.39829108
91Allograft rejection_Homo sapiens_hsa053300.37275422
92VEGF signaling pathway_Homo sapiens_hsa043700.33894799
93Phenylalanine metabolism_Homo sapiens_hsa003600.33754067
94Axon guidance_Homo sapiens_hsa043600.33215886
95Longevity regulating pathway - mammal_Homo sapiens_hsa042110.32550886
96Chemokine signaling pathway_Homo sapiens_hsa040620.31590978
97Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.31185609
98Selenocompound metabolism_Homo sapiens_hsa004500.31099070
99Systemic lupus erythematosus_Homo sapiens_hsa053220.28544643
100Autoimmune thyroid disease_Homo sapiens_hsa053200.27972762

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