EYS

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 product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)4.24559830
2L-fucose catabolic process (GO:0042355)4.18318701
3fucose catabolic process (GO:0019317)4.18318701
4L-fucose metabolic process (GO:0042354)4.18318701
5indolalkylamine metabolic process (GO:0006586)4.18265656
6indole-containing compound catabolic process (GO:0042436)4.10928652
7indolalkylamine catabolic process (GO:0046218)4.10928652
8tryptophan catabolic process (GO:0006569)4.10928652
9retinal cone cell development (GO:0046549)3.92022768
10cellular ketone body metabolic process (GO:0046950)3.86882397
11photoreceptor cell maintenance (GO:0045494)3.86615968
12kynurenine metabolic process (GO:0070189)3.77416110
13signal peptide processing (GO:0006465)3.76489843
14detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.76348790
15response to pheromone (GO:0019236)3.71985753
16protein K11-linked deubiquitination (GO:0035871)3.53623392
17tryptophan metabolic process (GO:0006568)3.47191072
18* detection of light stimulus involved in sensory perception (GO:0050962)3.45939814
19* detection of light stimulus involved in visual perception (GO:0050908)3.45939814
20negative regulation of cytosolic calcium ion concentration (GO:0051481)3.45399223
21ketone body metabolic process (GO:1902224)3.44224166
22reflex (GO:0060004)3.40043411
23regulation of sarcomere organization (GO:0060297)3.29877506
24protein localization to cilium (GO:0061512)3.29624138
25negative regulation of mast cell activation (GO:0033004)3.26170008
26neuronal action potential (GO:0019228)3.25908162
27neural tube formation (GO:0001841)3.23689153
28regulation of action potential (GO:0098900)3.22320136
29indole-containing compound metabolic process (GO:0042430)3.19387487
30protein prenylation (GO:0018342)3.14566726
31prenylation (GO:0097354)3.14566726
32establishment of protein localization to Golgi (GO:0072600)3.09682982
33primary amino compound metabolic process (GO:1901160)3.06336530
34sulfation (GO:0051923)3.01363784
35DNA deamination (GO:0045006)3.00042307
36cilium or flagellum-dependent cell motility (GO:0001539)2.99854838
37axoneme assembly (GO:0035082)2.99110855
38water-soluble vitamin biosynthetic process (GO:0042364)2.96716628
39serotonin metabolic process (GO:0042428)2.96432507
40epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.93843407
41tachykinin receptor signaling pathway (GO:0007217)2.90748399
42dopamine transport (GO:0015872)2.90493788
43photoreceptor cell development (GO:0042461)2.88292738
44gamma-aminobutyric acid transport (GO:0015812)2.85867632
45nonmotile primary cilium assembly (GO:0035058)2.85373621
46regulation of hexokinase activity (GO:1903299)2.84332075
47regulation of glucokinase activity (GO:0033131)2.84332075
48protein polyglutamylation (GO:0018095)2.79837187
49behavioral response to ethanol (GO:0048149)2.78966950
50amine catabolic process (GO:0009310)2.78729823
51cellular biogenic amine catabolic process (GO:0042402)2.78729823
52glycosphingolipid biosynthetic process (GO:0006688)2.75313186
53proline transport (GO:0015824)2.74368419
54preassembly of GPI anchor in ER membrane (GO:0016254)2.74279205
55regulation of hippo signaling (GO:0035330)2.73830330
56oxidative demethylation (GO:0070989)2.69658774
57cilium morphogenesis (GO:0060271)2.68924063
58thyroid hormone metabolic process (GO:0042403)2.68383912
59positive regulation of oligodendrocyte differentiation (GO:0048714)2.66946738
60eye photoreceptor cell development (GO:0042462)2.66472027
61platelet dense granule organization (GO:0060155)2.66186092
62spinal cord motor neuron differentiation (GO:0021522)2.65387429
63kidney morphogenesis (GO:0060993)2.64627811
64cilium organization (GO:0044782)2.63607971
65visual perception (GO:0007601)2.62029915
66sensory perception of light stimulus (GO:0050953)2.61117151
67DNA double-strand break processing (GO:0000729)2.60851968
68epithelial cilium movement (GO:0003351)2.60612386
69benzene-containing compound metabolic process (GO:0042537)2.59741845
70transmission of nerve impulse (GO:0019226)2.57828994
71cilium assembly (GO:0042384)2.56699147
72retinal rod cell development (GO:0046548)2.56342663
73positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.56227160
74L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.54619281
75multicellular organism reproduction (GO:0032504)2.53118579
76auditory receptor cell stereocilium organization (GO:0060088)2.52908839
77G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.50734868
78membrane depolarization during action potential (GO:0086010)2.50237665
79aromatic amino acid family catabolic process (GO:0009074)2.50166552
80startle response (GO:0001964)2.48041456
81respiratory chain complex IV assembly (GO:0008535)2.47122653
82double-strand break repair via homologous recombination (GO:0000724)2.46220828
83recombinational repair (GO:0000725)2.46113684
84rhodopsin mediated signaling pathway (GO:0016056)2.45564763
85reciprocal DNA recombination (GO:0035825)2.44671700
86reciprocal meiotic recombination (GO:0007131)2.44671700
87RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.40511496
88regulation of rhodopsin mediated signaling pathway (GO:0022400)2.40345206
89detection of mechanical stimulus involved in sensory perception (GO:0050974)2.39598306
90cAMP catabolic process (GO:0006198)2.36581569
91protein targeting to Golgi (GO:0000042)2.34527789
92adaptation of signaling pathway (GO:0023058)2.34416365
93NAD biosynthetic process (GO:0009435)2.33472421
94DNA demethylation (GO:0080111)2.32905449
95rRNA catabolic process (GO:0016075)2.32715168
96cellular response to ATP (GO:0071318)2.31624981
97nephron tubule morphogenesis (GO:0072078)2.30488676
98nephron epithelium morphogenesis (GO:0072088)2.30488676
99L-methionine biosynthetic process (GO:0071265)2.30488164
100amino acid salvage (GO:0043102)2.30488164

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human3.45633363
2ZNF274_21170338_ChIP-Seq_K562_Hela3.14870850
3VDR_22108803_ChIP-Seq_LS180_Human2.98667711
4IGF1R_20145208_ChIP-Seq_DFB_Human2.84716465
5POU3F2_20337985_ChIP-ChIP_501MEL_Human2.78510462
6ZFP57_27257070_Chip-Seq_ESCs_Mouse2.77420690
7GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.59399969
8FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.56587988
9FLI1_27457419_Chip-Seq_LIVER_Mouse2.41552760
10TAF15_26573619_Chip-Seq_HEK293_Human2.33672707
11CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.28634447
12* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.28194555
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.27101330
14P300_19829295_ChIP-Seq_ESCs_Human2.18040300
15EZH2_22144423_ChIP-Seq_EOC_Human2.11414267
16* EWS_26573619_Chip-Seq_HEK293_Human2.06352363
17* FUS_26573619_Chip-Seq_HEK293_Human2.03531178
18CTBP1_25329375_ChIP-Seq_LNCAP_Human2.02766341
19AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.02052735
20ER_23166858_ChIP-Seq_MCF-7_Human2.01029098
21PCGF2_27294783_Chip-Seq_ESCs_Mouse1.94410039
22SALL1_21062744_ChIP-ChIP_HESCs_Human1.90371135
23SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.84384387
24SMAD4_21799915_ChIP-Seq_A2780_Human1.81646626
25PIAS1_25552417_ChIP-Seq_VCAP_Human1.80600101
26* STAT3_23295773_ChIP-Seq_U87_Human1.80541830
27UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.73045252
28IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.65673134
29CBP_20019798_ChIP-Seq_JUKART_Human1.65673134
30PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.62945344
31SUZ12_27294783_Chip-Seq_NPCs_Mouse1.59909308
32TCF4_23295773_ChIP-Seq_U87_Human1.58897278
33SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.58394520
34MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.58036991
35AR_25329375_ChIP-Seq_VCAP_Human1.57874704
36* BCAT_22108803_ChIP-Seq_LS180_Human1.57264208
37BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.55774956
38EZH2_27294783_Chip-Seq_NPCs_Mouse1.54116971
39NR3C1_21868756_ChIP-Seq_MCF10A_Human1.52317366
40* SMAD3_21741376_ChIP-Seq_EPCs_Human1.49898739
41NFE2_27457419_Chip-Seq_LIVER_Mouse1.48612156
42EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.47835923
43PCGF2_27294783_Chip-Seq_NPCs_Mouse1.44394608
44HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.42170351
45SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.39127505
46* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.37601853
47OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.36058027
48NANOG_18555785_Chip-Seq_ESCs_Mouse1.34426347
49TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.33309115
50CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.33048794
51POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.32618155
52TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.32618155
53TCF4_22108803_ChIP-Seq_LS180_Human1.32213049
54RUNX2_22187159_ChIP-Seq_PCA_Human1.30176167
55NANOG_19829295_ChIP-Seq_ESCs_Human1.29921815
56SOX2_19829295_ChIP-Seq_ESCs_Human1.29921815
57KLF5_20875108_ChIP-Seq_MESCs_Mouse1.29743458
58EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.28248415
59FLI1_21867929_ChIP-Seq_TH2_Mouse1.28196380
60* TP53_22573176_ChIP-Seq_HFKS_Human1.27973236
61EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.27195524
62MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.26320692
63MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.25220881
64CRX_20693478_ChIP-Seq_RETINA_Mouse1.24321713
65P53_22387025_ChIP-Seq_ESCs_Mouse1.22952784
66REST_21632747_ChIP-Seq_MESCs_Mouse1.22170792
67FOXA1_21572438_ChIP-Seq_LNCaP_Human1.21195712
68PRDM14_20953172_ChIP-Seq_ESCs_Human1.21080388
69SMAD4_21741376_ChIP-Seq_EPCs_Human1.19863770
70BMI1_23680149_ChIP-Seq_NPCS_Mouse1.17327149
71PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.16371079
72E2F1_18555785_Chip-Seq_ESCs_Mouse1.16097444
73CBX2_27304074_Chip-Seq_ESCs_Mouse1.15632578
74HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.15115509
75AR_21572438_ChIP-Seq_LNCaP_Human1.15050826
76TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.14756942
77IRF1_19129219_ChIP-ChIP_H3396_Human1.14692051
78CDX2_22108803_ChIP-Seq_LS180_Human1.13954037
79FOXA1_25329375_ChIP-Seq_VCAP_Human1.12865019
80FOXA1_27270436_Chip-Seq_PROSTATE_Human1.12865019
81TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.10837893
82ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.10835810
83OCT4_21477851_ChIP-Seq_ESCs_Mouse1.09981376
84STAT3_18555785_Chip-Seq_ESCs_Mouse1.09489656
85TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.07569857
86RNF2_27304074_Chip-Seq_NSC_Mouse1.07538960
87SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.06833321
88CDX2_19796622_ChIP-Seq_MESCs_Mouse1.06668274
89CMYC_18555785_Chip-Seq_ESCs_Mouse1.06647067
90GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.06611448
91SOX2_21211035_ChIP-Seq_LN229_Gbm1.06454906
92SUZ12_18555785_Chip-Seq_ESCs_Mouse1.06337054
93KDM2B_26808549_Chip-Seq_REH_Human1.03786566
94TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03744734
95P300_18555785_Chip-Seq_ESCs_Mouse1.03722279
96EGR1_23403033_ChIP-Seq_LIVER_Mouse1.03225702
97TAL1_26923725_Chip-Seq_HPCs_Mouse1.03071011
98RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.98855019
99TP53_16413492_ChIP-PET_HCT116_Human0.98829928
100* NCOR_22424771_ChIP-Seq_293T_Human0.98809075

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003195_calcinosis3.44338028
2MP0000569_abnormal_digit_pigmentation3.10355231
3MP0005551_abnormal_eye_electrophysiolog2.96832323
4MP0002102_abnormal_ear_morphology2.60753835
5MP0001968_abnormal_touch/_nociception2.56712813
6MP0006072_abnormal_retinal_apoptosis2.46982265
7MP0002736_abnormal_nociception_after2.42703871
8MP0008877_abnormal_DNA_methylation2.41678600
9MP0005253_abnormal_eye_physiology2.34858622
10MP0009046_muscle_twitch2.22036316
11MP0002837_dystrophic_cardiac_calcinosis2.16017982
12MP0008057_abnormal_DNA_replication1.99167359
13MP0006276_abnormal_autonomic_nervous1.96799172
14MP0003787_abnormal_imprinting1.95224772
15MP0005645_abnormal_hypothalamus_physiol1.90711368
16MP0005646_abnormal_pituitary_gland1.88751690
17MP0004043_abnormal_pH_regulation1.83885802
18MP0003646_muscle_fatigue1.83648502
19MP0002638_abnormal_pupillary_reflex1.83351171
20MP0001986_abnormal_taste_sensitivity1.75738845
21MP0000427_abnormal_hair_cycle1.74649692
22MP0008872_abnormal_physiological_respon1.73811660
23MP0009745_abnormal_behavioral_response1.72680283
24MP0004142_abnormal_muscle_tone1.70420027
25MP0010386_abnormal_urinary_bladder1.70266974
26MP0001501_abnormal_sleep_pattern1.69659034
27MP0003880_abnormal_central_pattern1.65218982
28MP0004147_increased_porphyrin_level1.60678545
29MP0000372_irregular_coat_pigmentation1.60225093
30MP0002272_abnormal_nervous_system1.58646083
31MP0002876_abnormal_thyroid_physiology1.54262741
32MP0002928_abnormal_bile_duct1.49485092
33MP0000631_abnormal_neuroendocrine_gland1.49289905
34MP0005174_abnormal_tail_pigmentation1.46182851
35MP0002909_abnormal_adrenal_gland1.45916368
36MP0001486_abnormal_startle_reflex1.43543173
37MP0003136_yellow_coat_color1.42933282
38MP0001984_abnormal_olfaction1.40245182
39MP0002735_abnormal_chemical_nociception1.39948728
40MP0001485_abnormal_pinna_reflex1.39363834
41MP0005379_endocrine/exocrine_gland_phen1.36648145
42MP0003950_abnormal_plasma_membrane1.35520325
43MP0004924_abnormal_behavior1.32401636
44MP0005386_behavior/neurological_phenoty1.32401636
45MP0002138_abnormal_hepatobiliary_system1.31575998
46MP0000383_abnormal_hair_follicle1.28680969
47MP0006292_abnormal_olfactory_placode1.27379045
48MP0008875_abnormal_xenobiotic_pharmacok1.26400271
49MP0004145_abnormal_muscle_electrophysio1.26348181
50MP0002822_catalepsy1.26001079
51MP0002163_abnormal_gland_morphology1.24423369
52MP0002572_abnormal_emotion/affect_behav1.23737166
53MP0001970_abnormal_pain_threshold1.22117511
54MP0005084_abnormal_gallbladder_morpholo1.19418863
55MP0005187_abnormal_penis_morphology1.17105158
56MP0002557_abnormal_social/conspecific_i1.16789466
57MP0002064_seizures1.16274492
58MP0003252_abnormal_bile_duct1.16040275
59MP0002734_abnormal_mechanical_nocicepti1.16004998
60MP0002234_abnormal_pharynx_morphology1.15734703
61MP0005195_abnormal_posterior_eye1.14716891
62MP0005389_reproductive_system_phenotype1.12296674
63MP0004215_abnormal_myocardial_fiber1.08981407
64MP0002653_abnormal_ependyma_morphology1.07901452
65MP0002938_white_spotting1.06652050
66MP0004885_abnormal_endolymph1.05430321
67MP0002067_abnormal_sensory_capabilities1.05196350
68MP0000538_abnormal_urinary_bladder1.03847198
69MP0000230_abnormal_systemic_arterial1.01136248
70MP0002733_abnormal_thermal_nociception1.00814396
71MP0001529_abnormal_vocalization0.95544965
72MP0002229_neurodegeneration0.95427072
73MP0002095_abnormal_skin_pigmentation0.95281899
74MP0002160_abnormal_reproductive_system0.95160794
75MP0001919_abnormal_reproductive_system0.95072102
76MP0002693_abnormal_pancreas_physiology0.94083626
77MP0003635_abnormal_synaptic_transmissio0.91864995
78MP0005410_abnormal_fertilization0.91751799
79MP0005085_abnormal_gallbladder_physiolo0.91465283
80MP0003011_delayed_dark_adaptation0.89970549
81MP0004085_abnormal_heartbeat0.87956985
82MP0005220_abnormal_exocrine_pancreas0.86576730
83MP0002751_abnormal_autonomic_nervous0.85824841
84MP0001764_abnormal_homeostasis0.84953827
85MP0003045_fibrosis0.84663834
86MP0008775_abnormal_heart_ventricle0.83407466
87MP0002752_abnormal_somatic_nervous0.82954372
88MP0003718_maternal_effect0.82953538
89MP0005360_urolithiasis0.82557879
90MP0005391_vision/eye_phenotype0.82400785
91MP0010678_abnormal_skin_adnexa0.81071726
92MP0005423_abnormal_somatic_nervous0.80501489
93MP0009697_abnormal_copulation0.80055244
94MP0002063_abnormal_learning/memory/cond0.79228647
95MP0005647_abnormal_sex_gland0.78406545
96MP0004133_heterotaxia0.78100673
97MP0005167_abnormal_blood-brain_barrier0.77804359
98MP0003283_abnormal_digestive_organ0.77323826
99MP0004742_abnormal_vestibular_system0.76693412
100MP0001324_abnormal_eye_pigmentation0.76257817

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.34946763
2Congenital stationary night blindness (HP:0007642)4.34573825
3Pancreatic fibrosis (HP:0100732)3.86408998
4True hermaphroditism (HP:0010459)3.78389057
5Hyperventilation (HP:0002883)3.68700666
6* Attenuation of retinal blood vessels (HP:0007843)3.62803669
7Abnormality of the renal cortex (HP:0011035)3.51993464
8Nephronophthisis (HP:0000090)3.41112651
9Molar tooth sign on MRI (HP:0002419)3.35318822
10Abnormality of midbrain morphology (HP:0002418)3.35318822
11Medial flaring of the eyebrow (HP:0010747)3.30634485
12Abnormal rod and cone electroretinograms (HP:0008323)3.17396358
13Decreased central vision (HP:0007663)3.12655400
14Abnormality of the renal medulla (HP:0100957)3.08577945
15Congenital sensorineural hearing impairment (HP:0008527)3.07600457
16Chronic hepatic failure (HP:0100626)3.06292859
17Gaze-evoked nystagmus (HP:0000640)3.01172251
18Renal cortical cysts (HP:0000803)3.00638033
19Central scotoma (HP:0000603)2.88081050
20* Bony spicule pigmentary retinopathy (HP:0007737)2.85437086
21Intestinal atresia (HP:0011100)2.78921150
22Keratoconus (HP:0000563)2.78646885
23Increased corneal curvature (HP:0100692)2.78646885
24Absent rod-and cone-mediated responses on ERG (HP:0007688)2.69377230
25Cystic liver disease (HP:0006706)2.68642380
26Genetic anticipation (HP:0003743)2.65200516
27Gait imbalance (HP:0002141)2.62715437
28Congenital primary aphakia (HP:0007707)2.61785726
29Hypothermia (HP:0002045)2.57554083
30Polydipsia (HP:0001959)2.55702557
31Abnormal drinking behavior (HP:0030082)2.55702557
32* Abolished electroretinogram (ERG) (HP:0000550)2.55240382
33Decreased circulating renin level (HP:0003351)2.53581196
34Pendular nystagmus (HP:0012043)2.53336563
35Abnormality of macular pigmentation (HP:0008002)2.52321032
36Dynein arm defect of respiratory motile cilia (HP:0012255)2.51615894
37Absent/shortened dynein arms (HP:0200106)2.51615894
38Decreased electroretinogram (ERG) amplitude (HP:0000654)2.48918555
39Absent speech (HP:0001344)2.48143556
40Tubular atrophy (HP:0000092)2.47951373
41Type II lissencephaly (HP:0007260)2.47251554
42Progressive cerebellar ataxia (HP:0002073)2.46944285
43Chorioretinal atrophy (HP:0000533)2.46580826
44Febrile seizures (HP:0002373)2.45288118
45Aplasia/Hypoplasia of the tibia (HP:0005772)2.44786731
46Fair hair (HP:0002286)2.43202591
47Inability to walk (HP:0002540)2.35669178
48Nephrogenic diabetes insipidus (HP:0009806)2.33943068
49Posterior subcapsular cataract (HP:0007787)2.28924501
50Furrowed tongue (HP:0000221)2.27243239
51Scotoma (HP:0000575)2.25912824
52Hyperalaninemia (HP:0003348)2.23401909
53Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.23401909
54Abnormality of alanine metabolism (HP:0010916)2.23401909
55Aplasia/Hypoplasia of the tongue (HP:0010295)2.21151108
56Genital tract atresia (HP:0001827)2.18512593
57Protruding tongue (HP:0010808)2.15872453
58Broad-based gait (HP:0002136)2.15485673
59Thyroiditis (HP:0100646)2.13713207
60Large for gestational age (HP:0001520)2.12839614
61Sclerocornea (HP:0000647)2.12335973
62Congenital hepatic fibrosis (HP:0002612)2.09165296
63Vaginal atresia (HP:0000148)2.07999634
64Ketoacidosis (HP:0001993)2.07418732
65Clumsiness (HP:0002312)2.04391130
66Hemiparesis (HP:0001269)2.02726637
67Cerebellar dysplasia (HP:0007033)2.01688010
68Progressive inability to walk (HP:0002505)2.00514912
69Congenital, generalized hypertrichosis (HP:0004540)2.00474388
70Polyuria (HP:0000103)1.96940152
71* Constricted visual fields (HP:0001133)1.95670337
72Optic nerve hypoplasia (HP:0000609)1.94220319
73Abnormal respiratory motile cilium morphology (HP:0005938)1.94197517
74Abnormal respiratory epithelium morphology (HP:0012253)1.94197517
75Poor coordination (HP:0002370)1.93315257
76Male pseudohermaphroditism (HP:0000037)1.91156318
77Anencephaly (HP:0002323)1.90099211
78Tubulointerstitial nephritis (HP:0001970)1.89018350
79Hypoplasia of the fovea (HP:0007750)1.87201135
80Aplasia/Hypoplasia of the fovea (HP:0008060)1.87201135
81Lissencephaly (HP:0001339)1.86038934
82Generalized hypopigmentation of hair (HP:0011358)1.83492396
83Widely spaced teeth (HP:0000687)1.80788753
84Abnormal ciliary motility (HP:0012262)1.79595163
85Postaxial foot polydactyly (HP:0001830)1.79272697
86* Type II diabetes mellitus (HP:0005978)1.78410597
87Dialeptic seizures (HP:0011146)1.78087445
88Methylmalonic acidemia (HP:0002912)1.77388447
89Focal seizures (HP:0007359)1.77068407
90Ketosis (HP:0001946)1.76995255
91Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.76978249
92Stomach cancer (HP:0012126)1.75708477
93* Photophobia (HP:0000613)1.75441211
94Aplasia/Hypoplasia of the spleen (HP:0010451)1.70453937
95Astigmatism (HP:0000483)1.70274997
96Focal motor seizures (HP:0011153)1.69671455
97Small hand (HP:0200055)1.68763974
98* Retinitis pigmentosa (HP:0000510)1.68664615
99Supernumerary spleens (HP:0009799)1.67128349
100Tubulointerstitial abnormality (HP:0001969)1.66335534

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK8.15786169
2BMPR1B3.00495696
3ADRBK22.81501616
4MAP4K22.65115149
5WNK32.59821826
6ACVR1B2.55832277
7GRK12.39757054
8NUAK12.36013338
9INSRR2.35504092
10ZAK2.25574885
11CASK2.13402700
12MAP3K41.96124139
13TAOK31.88333813
14PINK11.75763632
15MAPK131.58796941
16TLK11.55064765
17OXSR11.54222822
18DAPK21.40023360
19WNK41.36221325
20MKNK21.32882042
21STK38L1.30637836
22STK391.30360637
23TNIK1.24671419
24TXK1.24360477
25PLK21.12893708
26TRIM281.09839331
27PAK31.06264083
28PRKCE1.04947074
29ADRBK11.04565176
30PIK3CG1.04379231
31MARK11.01599027
32AKT31.01434991
33NTRK31.01431299
34MUSK0.92727558
35MAP2K70.90687902
36ERBB30.89549972
37PTK2B0.87316990
38TGFBR10.84433255
39PRKCG0.83530710
40CSNK1G10.82787008
41CSNK1G20.82251708
42CSNK1A1L0.79787213
43MAPKAPK50.79522678
44STK30.77353741
45FGFR20.77155333
46CSNK1G30.76521839
47TEC0.76219641
48TIE10.76071538
49PIK3CA0.75954604
50EIF2AK30.75030817
51FER0.73901905
52MKNK10.68351710
53CAMKK20.68250458
54PLK40.66565279
55OBSCN0.65820298
56MST40.65247972
57VRK10.63302760
58PHKG20.60414939
59PHKG10.60414939
60MAP2K60.60008042
61IRAK10.59505223
62CAMK2A0.59460629
63TAF10.56108876
64BRSK20.55055211
65IKBKB0.50666847
66EPHA40.49994441
67TRPM70.49236489
68SGK20.48384998
69BCR0.48319239
70TNK20.46139159
71FLT30.45862821
72PRKAA20.45775361
73CSNK1D0.45473087
74PRKACA0.44222805
75PKN10.42833036
76LATS10.41694859
77PRKG10.41492539
78DYRK20.40255367
79MAP3K70.40233392
80PRKCQ0.40143242
81NLK0.38862608
82PRKAA10.38195663
83PLK30.37924834
84GRK50.37219770
85CSNK1A10.33804237
86CHUK0.33682980
87PRKACB0.33335439
88RPS6KA50.32699979
89MAP2K10.32039263
90MAPKAPK30.31584735
91KIT0.31486194
92PRKCZ0.30566196
93STK110.30516475
94PRKCA0.30011034
95CAMK10.29209466
96ERBB20.28260670
97PNCK0.27699223
98ATM0.27638872
99CHEK20.27267223
100PRKCB0.27193270

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047443.02833755
2Maturity onset diabetes of the young_Homo sapiens_hsa049502.76836368
3Butanoate metabolism_Homo sapiens_hsa006502.71435443
4Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.49212765
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.41822895
6Nicotine addiction_Homo sapiens_hsa050332.27238525
7Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.13570302
8Linoleic acid metabolism_Homo sapiens_hsa005912.12338118
9Nitrogen metabolism_Homo sapiens_hsa009102.10145093
10Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.07157291
11alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.05759340
12Tryptophan metabolism_Homo sapiens_hsa003802.04577282
13Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.95787915
14Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.94753017
15ABC transporters_Homo sapiens_hsa020101.92551428
16Selenocompound metabolism_Homo sapiens_hsa004501.89184464
17Ether lipid metabolism_Homo sapiens_hsa005651.83305132
18Taste transduction_Homo sapiens_hsa047421.82344332
19Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.79883367
20Primary bile acid biosynthesis_Homo sapiens_hsa001201.72740039
21Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.64876798
22Olfactory transduction_Homo sapiens_hsa047401.63434280
23Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.63020798
24Homologous recombination_Homo sapiens_hsa034401.61647659
25Propanoate metabolism_Homo sapiens_hsa006401.59785267
26Steroid hormone biosynthesis_Homo sapiens_hsa001401.55182429
27Morphine addiction_Homo sapiens_hsa050321.48566542
28Fanconi anemia pathway_Homo sapiens_hsa034601.39912618
29Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.38885901
30Protein export_Homo sapiens_hsa030601.37080218
31Insulin secretion_Homo sapiens_hsa049111.32159579
32Serotonergic synapse_Homo sapiens_hsa047261.27236735
33Retinol metabolism_Homo sapiens_hsa008301.27231736
34Circadian entrainment_Homo sapiens_hsa047131.24698122
35Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.22486904
36Chemical carcinogenesis_Homo sapiens_hsa052041.21824479
37GABAergic synapse_Homo sapiens_hsa047271.21586859
38Caffeine metabolism_Homo sapiens_hsa002321.20788159
39Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.18468243
40Peroxisome_Homo sapiens_hsa041461.14823420
41Glutamatergic synapse_Homo sapiens_hsa047241.13346646
42beta-Alanine metabolism_Homo sapiens_hsa004101.08702018
43Histidine metabolism_Homo sapiens_hsa003401.08395022
44Intestinal immune network for IgA production_Homo sapiens_hsa046721.07959063
45Basal transcription factors_Homo sapiens_hsa030221.07838247
46Arachidonic acid metabolism_Homo sapiens_hsa005901.07157794
47RNA polymerase_Homo sapiens_hsa030201.01913697
48Calcium signaling pathway_Homo sapiens_hsa040200.97875425
49Salivary secretion_Homo sapiens_hsa049700.97438945
50Oxidative phosphorylation_Homo sapiens_hsa001900.96216406
51Glycerolipid metabolism_Homo sapiens_hsa005610.95201073
52Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.94102564
53Pentose and glucuronate interconversions_Homo sapiens_hsa000400.92864376
54Sulfur metabolism_Homo sapiens_hsa009200.92841779
55One carbon pool by folate_Homo sapiens_hsa006700.87674015
56Ovarian steroidogenesis_Homo sapiens_hsa049130.84268406
57Non-homologous end-joining_Homo sapiens_hsa034500.83123255
58Regulation of autophagy_Homo sapiens_hsa041400.82983496
59RNA degradation_Homo sapiens_hsa030180.81292167
60Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.79225567
61Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.79058629
62Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.78251795
63Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.77280289
64Circadian rhythm_Homo sapiens_hsa047100.76219872
65Asthma_Homo sapiens_hsa053100.73711030
66Type I diabetes mellitus_Homo sapiens_hsa049400.72765060
67Fatty acid degradation_Homo sapiens_hsa000710.72207051
68Dopaminergic synapse_Homo sapiens_hsa047280.69638789
69Dorso-ventral axis formation_Homo sapiens_hsa043200.68197182
70Lysine degradation_Homo sapiens_hsa003100.66206188
71Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.63714992
72Renin secretion_Homo sapiens_hsa049240.61978604
73Collecting duct acid secretion_Homo sapiens_hsa049660.61203126
74Sphingolipid metabolism_Homo sapiens_hsa006000.58715489
75Vascular smooth muscle contraction_Homo sapiens_hsa042700.57157104
76cAMP signaling pathway_Homo sapiens_hsa040240.56260097
77Fatty acid metabolism_Homo sapiens_hsa012120.54434876
78Parkinsons disease_Homo sapiens_hsa050120.53656862
79Purine metabolism_Homo sapiens_hsa002300.53024687
80Glycerophospholipid metabolism_Homo sapiens_hsa005640.51710379
81Metabolic pathways_Homo sapiens_hsa011000.50719125
82Fat digestion and absorption_Homo sapiens_hsa049750.50401140
83SNARE interactions in vesicular transport_Homo sapiens_hsa041300.50232156
84Cholinergic synapse_Homo sapiens_hsa047250.48917029
85Amphetamine addiction_Homo sapiens_hsa050310.47725229
86Mineral absorption_Homo sapiens_hsa049780.46075006
87Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.44128645
88Fatty acid biosynthesis_Homo sapiens_hsa000610.42216846
89Cardiac muscle contraction_Homo sapiens_hsa042600.41981863
90Gastric acid secretion_Homo sapiens_hsa049710.41702329
91Cocaine addiction_Homo sapiens_hsa050300.40097505
92Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.34571206
93Long-term depression_Homo sapiens_hsa047300.34415467
94Huntingtons disease_Homo sapiens_hsa050160.34270696
95Pancreatic secretion_Homo sapiens_hsa049720.33414276
96Oxytocin signaling pathway_Homo sapiens_hsa049210.32669800
97Alzheimers disease_Homo sapiens_hsa050100.32161729
98Type II diabetes mellitus_Homo sapiens_hsa049300.32040302
99Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.31621408
100Graft-versus-host disease_Homo sapiens_hsa053320.31434210

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