RPEL1

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





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

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.27836630
2behavioral response to ethanol (GO:0048149)5.91575797
3cilium or flagellum-dependent cell motility (GO:0001539)5.86748237
4centriole replication (GO:0007099)5.73503015
5retinal rod cell development (GO:0046548)5.23875122
6urate metabolic process (GO:0046415)5.09540289
7peptidyl-tyrosine autophosphorylation (GO:0038083)5.05153974
8positive regulation of mitochondrial fission (GO:0090141)4.81686866
9axoneme assembly (GO:0035082)4.69516989
10locomotory exploration behavior (GO:0035641)4.53103578
11retinal cone cell development (GO:0046549)4.52157865
12ubiquinone biosynthetic process (GO:0006744)4.48737825
13epithelial cilium movement (GO:0003351)4.47230397
14parturition (GO:0007567)4.44825635
15cilium movement (GO:0003341)4.29365316
16chaperone-mediated protein transport (GO:0072321)4.20660081
17ubiquinone metabolic process (GO:0006743)4.18699373
18negative regulation of catenin import into nucleus (GO:0035414)4.14000430
19centriole assembly (GO:0098534)4.07465641
20negative regulation of membrane potential (GO:0045837)4.03886230
21regulation of dendritic cell antigen processing and presentation (GO:0002604)3.94916330
22positive regulation of protein homodimerization activity (GO:0090073)3.91526161
23rRNA methylation (GO:0031167)3.91204135
24negative regulation of catecholamine secretion (GO:0033604)3.84932596
25alanine transport (GO:0032328)3.81944920
26mitochondrial respiratory chain complex I assembly (GO:0032981)3.79527282
27NADH dehydrogenase complex assembly (GO:0010257)3.79527282
28mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.79527282
29axonemal dynein complex assembly (GO:0070286)3.75658805
30regulation of DNA endoreduplication (GO:0032875)3.72056954
31quinone biosynthetic process (GO:1901663)3.71667952
32glycerol metabolic process (GO:0006071)3.71444030
33hypothalamus development (GO:0021854)3.67571020
34ncRNA catabolic process (GO:0034661)3.66124374
35DNA double-strand break processing (GO:0000729)3.64671136
36positive regulation of mast cell activation involved in immune response (GO:0033008)3.54250733
37positive regulation of mast cell degranulation (GO:0043306)3.54250733
38positive regulation of sodium ion transmembrane transporter activity (GO:2000651)3.51270458
39regulation of sarcomere organization (GO:0060297)3.51134841
40cytokine production involved in immune response (GO:0002367)3.48704017
41motile cilium assembly (GO:0044458)3.47241408
42regulation of glucocorticoid secretion (GO:2000849)3.39912827
43positive regulation of T-helper 1 type immune response (GO:0002827)3.39039597
44alditol metabolic process (GO:0019400)3.31706004
45lateral sprouting from an epithelium (GO:0060601)3.30757447
46rRNA modification (GO:0000154)3.26503353
47protein complex biogenesis (GO:0070271)3.23539236
48intracellular protein transmembrane import (GO:0044743)3.21469142
49fatty acid transmembrane transport (GO:1902001)3.19596034
50behavioral response to cocaine (GO:0048148)3.19486172
51microtubule bundle formation (GO:0001578)3.17272718
52L-amino acid import (GO:0043092)3.12760080
53GTP biosynthetic process (GO:0006183)3.09944304
54cellular ketone body metabolic process (GO:0046950)3.08616795
55regulation of mitochondrial fission (GO:0090140)3.07288963
56GPI anchor metabolic process (GO:0006505)3.04326603
57carnitine shuttle (GO:0006853)3.03799160
58spindle assembly involved in mitosis (GO:0090307)3.03332631
59sequestering of extracellular ligand from receptor (GO:0035581)3.02651189
60basic amino acid transport (GO:0015802)3.02475553
61C-terminal protein lipidation (GO:0006501)3.02379656
62mitochondrial respiratory chain complex assembly (GO:0033108)3.01935995
63cytidine deamination (GO:0009972)3.00951259
64cytidine metabolic process (GO:0046087)3.00951259
65cytidine catabolic process (GO:0006216)3.00951259
66regulation of voltage-gated calcium channel activity (GO:1901385)2.99949764
67DNA deamination (GO:0045006)2.98612808
68protein import into peroxisome matrix (GO:0016558)2.98525226
69regulation of type B pancreatic cell apoptotic process (GO:2000674)2.98140703
70preassembly of GPI anchor in ER membrane (GO:0016254)2.97713239
71mitochondrial fission (GO:0000266)2.96254248
72microtubule depolymerization (GO:0007019)2.91033372
73positive regulation of antigen processing and presentation (GO:0002579)2.87602776
74segment specification (GO:0007379)2.85590442
75positive regulation of mast cell activation (GO:0033005)2.83569653
76mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.76779523
77UTP metabolic process (GO:0046051)2.75501778
78photoreceptor cell development (GO:0042461)2.73016191
79nucleoside diphosphate phosphorylation (GO:0006165)2.72224518
80ketone body metabolic process (GO:1902224)2.70693464
81negative regulation of calcium ion transmembrane transport (GO:1903170)2.70417065
82negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.70417065
83microtubule cytoskeleton organization involved in mitosis (GO:1902850)2.68905584
84behavioral response to nicotine (GO:0035095)2.67441673
85tachykinin receptor signaling pathway (GO:0007217)2.66791698
86eye photoreceptor cell development (GO:0042462)2.66767488
87regulation of corticosteroid hormone secretion (GO:2000846)2.64496794
88fear response (GO:0042596)2.64055150
89DNA integration (GO:0015074)2.63134728
90protein K6-linked ubiquitination (GO:0085020)2.62804517
91regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.62437176
92RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.61881376
93short-term memory (GO:0007614)2.61697141
94protein-cofactor linkage (GO:0018065)2.60602152
95respiratory chain complex IV assembly (GO:0008535)2.59834050
96UTP biosynthetic process (GO:0006228)2.57935928
97exploration behavior (GO:0035640)2.56531027
98retina layer formation (GO:0010842)2.55493328
99cell fate commitment involved in formation of primary germ layer (GO:0060795)2.55485207
100inositol phosphate catabolic process (GO:0071545)2.54870591

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.41585429
2ZNF274_21170338_ChIP-Seq_K562_Hela3.48395205
3GBX2_23144817_ChIP-Seq_PC3_Human3.26610234
4SALL1_21062744_ChIP-ChIP_HESCs_Human3.16055222
5GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.03965442
6EWS_26573619_Chip-Seq_HEK293_Human2.60210588
7POU3F2_20337985_ChIP-ChIP_501MEL_Human2.57782415
8MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.44823629
9FLI1_27457419_Chip-Seq_LIVER_Mouse2.38788097
10GABP_17652178_ChIP-ChIP_JURKAT_Human2.25966675
11BP1_19119308_ChIP-ChIP_Hs578T_Human2.20626383
12EST1_17652178_ChIP-ChIP_JURKAT_Human2.13001316
13EZH2_22144423_ChIP-Seq_EOC_Human2.12835197
14ZFP57_27257070_Chip-Seq_ESCs_Mouse2.10535992
15FUS_26573619_Chip-Seq_HEK293_Human2.10497299
16HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.93196286
17BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.89994419
18BMI1_23680149_ChIP-Seq_NPCS_Mouse1.81741122
19PCGF2_27294783_Chip-Seq_ESCs_Mouse1.79948721
20CTBP1_25329375_ChIP-Seq_LNCAP_Human1.78174706
21P300_19829295_ChIP-Seq_ESCs_Human1.77771529
22ELK1_19687146_ChIP-ChIP_HELA_Human1.76231206
23KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.73952824
24AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.66392370
25EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.65863362
26SMAD4_21799915_ChIP-Seq_A2780_Human1.64588830
27ER_23166858_ChIP-Seq_MCF-7_Human1.62746010
28AR_21572438_ChIP-Seq_LNCaP_Human1.61987353
29TCF4_22108803_ChIP-Seq_LS180_Human1.60332272
30FOXA1_27270436_Chip-Seq_PROSTATE_Human1.59742716
31FOXA1_25329375_ChIP-Seq_VCAP_Human1.59742716
32MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.58355872
33NOTCH1_21737748_ChIP-Seq_TLL_Human1.58095176
34NANOG_19829295_ChIP-Seq_ESCs_Human1.51848702
35SOX2_19829295_ChIP-Seq_ESCs_Human1.51848702
36CBX2_27304074_Chip-Seq_ESCs_Mouse1.50041818
37NFE2_27457419_Chip-Seq_LIVER_Mouse1.46537913
38RNF2_27304074_Chip-Seq_NSC_Mouse1.45949383
39VDR_22108803_ChIP-Seq_LS180_Human1.45815622
40FOXA1_21572438_ChIP-Seq_LNCaP_Human1.44467547
41CBP_20019798_ChIP-Seq_JUKART_Human1.42670017
42IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.42670017
43MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.42524771
44GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.42071125
45SUZ12_27294783_Chip-Seq_NPCs_Mouse1.41871884
46KLF5_20875108_ChIP-Seq_MESCs_Mouse1.40546303
47CTBP2_25329375_ChIP-Seq_LNCAP_Human1.40498815
48BCAT_22108803_ChIP-Seq_LS180_Human1.38797499
49EZH2_27294783_Chip-Seq_NPCs_Mouse1.36785950
50UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.35144749
51NR3C1_21868756_ChIP-Seq_MCF10A_Human1.34616610
52EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.32170525
53STAT3_23295773_ChIP-Seq_U87_Human1.31262140
54TOP2B_26459242_ChIP-Seq_MCF-7_Human1.30535899
55AR_25329375_ChIP-Seq_VCAP_Human1.28706895
56FLI1_21867929_ChIP-Seq_TH2_Mouse1.27670547
57RUNX2_22187159_ChIP-Seq_PCA_Human1.27255493
58HTT_18923047_ChIP-ChIP_STHdh_Human1.27188656
59SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.26618722
60CDX2_22108803_ChIP-Seq_LS180_Human1.26531628
61TDRD3_21172665_ChIP-Seq_MCF-7_Human1.24447779
62REST_21632747_ChIP-Seq_MESCs_Mouse1.21865524
63GATA3_21878914_ChIP-Seq_MCF-7_Human1.20365406
64PCGF2_27294783_Chip-Seq_NPCs_Mouse1.20003427
65TP53_22573176_ChIP-Seq_HFKS_Human1.19125802
66SMAD3_21741376_ChIP-Seq_EPCs_Human1.18921088
67PIAS1_25552417_ChIP-Seq_VCAP_Human1.16576388
68AR_20517297_ChIP-Seq_VCAP_Human1.16186157
69HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.14287629
70NCOR_22424771_ChIP-Seq_293T_Human1.14200373
71PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.13529396
72PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.13274442
73SRF_21415370_ChIP-Seq_HL-1_Mouse1.12893963
74PADI4_21655091_ChIP-ChIP_MCF-7_Human1.12326936
75SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.11179843
76SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.10844981
77PRDM14_20953172_ChIP-Seq_ESCs_Human1.10596324
78CRX_20693478_ChIP-Seq_RETINA_Mouse1.09644330
79FOXP3_21729870_ChIP-Seq_TREG_Human1.09577844
80TAF15_26573619_Chip-Seq_HEK293_Human1.09035565
81FOXM1_26456572_ChIP-Seq_MCF-7_Human1.08463607
82CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.07959615
83EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.06714404
84TAL1_26923725_Chip-Seq_HPCs_Mouse1.06613270
85TCF4_23295773_ChIP-Seq_U87_Human1.06218092
86STAT6_21828071_ChIP-Seq_BEAS2B_Human1.04702732
87KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.04499553
88TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.03788781
89JUN_21703547_ChIP-Seq_K562_Human1.03597977
90EED_16625203_ChIP-ChIP_MESCs_Mouse1.03554306
91POU5F1_16153702_ChIP-ChIP_HESCs_Human1.02379947
92E2F4_17652178_ChIP-ChIP_JURKAT_Human1.01751636
93REST_18959480_ChIP-ChIP_MESCs_Mouse1.01020158
94RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.00455267
95TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.99660589
96VDR_23849224_ChIP-Seq_CD4+_Human0.99519209
97ETV1_20927104_ChIP-Seq_GIST48_Human0.99366638
98P53_22387025_ChIP-Seq_ESCs_Mouse0.99348518
99RBPJ_21746931_ChIP-Seq_IB4_Human0.98058069
100SMAD_19615063_ChIP-ChIP_OVARY_Human0.97974396

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002138_abnormal_hepatobiliary_system3.77293111
2MP0002653_abnormal_ependyma_morphology3.63692576
3MP0003806_abnormal_nucleotide_metabolis3.38944759
4MP0000537_abnormal_urethra_morphology3.38095272
5MP0003011_delayed_dark_adaptation3.25797244
6MP0002837_dystrophic_cardiac_calcinosis2.97910460
7MP0010386_abnormal_urinary_bladder2.96213076
8MP0005646_abnormal_pituitary_gland2.79356764
9MP0009046_muscle_twitch2.29619642
10MP0002735_abnormal_chemical_nociception2.29483304
11MP0003787_abnormal_imprinting2.16223813
12MP0008007_abnormal_cellular_replicative2.13165625
13MP0008057_abnormal_DNA_replication2.10058913
14MP0006036_abnormal_mitochondrial_physio1.93435537
15MP0003172_abnormal_lysosome_physiology1.89058320
16MP0002006_tumorigenesis1.83510905
17MP0002009_preneoplasia1.83323463
18MP0005645_abnormal_hypothalamus_physiol1.79611561
19MP0003718_maternal_effect1.73065365
20MP0001188_hyperpigmentation1.72577856
21MP0005253_abnormal_eye_physiology1.70386152
22MP0009745_abnormal_behavioral_response1.70191770
23MP0008877_abnormal_DNA_methylation1.69644084
24MP0002160_abnormal_reproductive_system1.68655932
25MP0002166_altered_tumor_susceptibility1.66344224
26MP0005174_abnormal_tail_pigmentation1.65564981
27MP0001968_abnormal_touch/_nociception1.58451069
28MP0001905_abnormal_dopamine_level1.58161908
29MP0006292_abnormal_olfactory_placode1.53352491
30MP0005551_abnormal_eye_electrophysiolog1.50667707
31MP0003880_abnormal_central_pattern1.49596671
32MP0005084_abnormal_gallbladder_morpholo1.48453045
33MP0002229_neurodegeneration1.48004915
34MP0003937_abnormal_limbs/digits/tail_de1.43553796
35MP0010094_abnormal_chromosome_stability1.34908496
36MP0000013_abnormal_adipose_tissue1.31501593
37MP0002234_abnormal_pharynx_morphology1.31490342
38MP0002272_abnormal_nervous_system1.31474032
39MP0006276_abnormal_autonomic_nervous1.31401792
40MP0001970_abnormal_pain_threshold1.28361242
41MP0005220_abnormal_exocrine_pancreas1.25541344
42MP0002277_abnormal_respiratory_mucosa1.25054701
43MP0000639_abnormal_adrenal_gland1.21368500
44MP0005379_endocrine/exocrine_gland_phen1.20567974
45MP0002163_abnormal_gland_morphology1.20407155
46MP0002736_abnormal_nociception_after1.19150487
47MP0008872_abnormal_physiological_respon1.17077329
48MP0000631_abnormal_neuroendocrine_gland1.16877805
49MP0004133_heterotaxia1.15689028
50MP0002064_seizures1.10917036
51MP0009333_abnormal_splenocyte_physiolog1.09277760
52MP0005332_abnormal_amino_acid1.08786397
53MP0001986_abnormal_taste_sensitivity1.08347206
54MP0000015_abnormal_ear_pigmentation1.08230283
55MP0005389_reproductive_system_phenotype1.07656860
56MP0004885_abnormal_endolymph1.07633697
57MP0002572_abnormal_emotion/affect_behav1.05764405
58MP0002733_abnormal_thermal_nociception1.05485439
59MP0000566_synostosis1.04910540
60MP0004145_abnormal_muscle_electrophysio1.04456027
61MP0001485_abnormal_pinna_reflex1.04043547
62MP0003195_calcinosis1.01996267
63MP0006072_abnormal_retinal_apoptosis1.01241231
64MP0002734_abnormal_mechanical_nocicepti1.00255822
65MP0005266_abnormal_metabolism0.98506006
66MP0002184_abnormal_innervation0.98309230
67MP0002638_abnormal_pupillary_reflex0.96314364
68MP0002108_abnormal_muscle_morphology0.95167124
69MP0002067_abnormal_sensory_capabilities0.94331642
70MP0002557_abnormal_social/conspecific_i0.92240197
71MP0008569_lethality_at_weaning0.91882143
72MP0002095_abnormal_skin_pigmentation0.90169816
73MP0001764_abnormal_homeostasis0.89889546
74MP0000613_abnormal_salivary_gland0.88253429
75MP0004084_abnormal_cardiac_muscle0.87144282
76MP0001486_abnormal_startle_reflex0.85633154
77MP0005670_abnormal_white_adipose0.85542655
78MP0000538_abnormal_urinary_bladder0.83870819
79MP0002282_abnormal_trachea_morphology0.83570181
80MP0002210_abnormal_sex_determination0.83110061
81MP0005075_abnormal_melanosome_morpholog0.82701397
82MP0008789_abnormal_olfactory_epithelium0.80537293
83MP0000778_abnormal_nervous_system0.80419254
84MP0002752_abnormal_somatic_nervous0.80260208
85MP0001963_abnormal_hearing_physiology0.80211509
86MP0005195_abnormal_posterior_eye0.79963356
87MP0005636_abnormal_mineral_homeostasis0.79327778
88MP0000230_abnormal_systemic_arterial0.79300736
89MP0004215_abnormal_myocardial_fiber0.79083769
90MP0001919_abnormal_reproductive_system0.76507044
91MP0004742_abnormal_vestibular_system0.75662142
92MP0005365_abnormal_bile_salt0.74669021
93MP0005535_abnormal_body_temperature0.74643403
94MP0003786_premature_aging0.73038428
95MP0008875_abnormal_xenobiotic_pharmacok0.71770224
96MP0004147_increased_porphyrin_level0.71742355
97MP0001145_abnormal_male_reproductive0.69861256
98MP0000681_abnormal_thyroid_gland0.69560375
99MP0001984_abnormal_olfaction0.69366432
100MP0002177_abnormal_outer_ear0.68889289

Predicted human phenotypes

RankGene SetZ-score
1Absent/shortened dynein arms (HP:0200106)7.60249968
2Dynein arm defect of respiratory motile cilia (HP:0012255)7.60249968
3Bile duct proliferation (HP:0001408)5.27841010
4Abnormal biliary tract physiology (HP:0012439)5.27841010
5Abnormal ciliary motility (HP:0012262)4.75919759
6Abnormal respiratory motile cilium morphology (HP:0005938)4.44875195
7Abnormal respiratory epithelium morphology (HP:0012253)4.44875195
8Abnormal hair whorl (HP:0010721)4.44063933
9Absent rod-and cone-mediated responses on ERG (HP:0007688)4.16377418
10Abolished electroretinogram (ERG) (HP:0000550)4.05477589
11Abnormal respiratory motile cilium physiology (HP:0012261)3.83094091
123-Methylglutaconic aciduria (HP:0003535)3.67963826
13Patent foramen ovale (HP:0001655)3.59088068
14Molar tooth sign on MRI (HP:0002419)3.46968940
15Abnormality of midbrain morphology (HP:0002418)3.46968940
16Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.40970124
17Abnormality of the right ventricle (HP:0001707)3.35287678
18Constricted visual fields (HP:0001133)3.33725141
19Abnormal rod and cone electroretinograms (HP:0008323)3.29413301
20Pancreatic cysts (HP:0001737)3.17415914
21Bifid tongue (HP:0010297)2.90327808
22Supernumerary spleens (HP:0009799)2.72158151
23Abnormality of placental membranes (HP:0011409)2.60875621
24Amniotic constriction ring (HP:0009775)2.60875621
25Hyperglycinuria (HP:0003108)2.59055512
26Ulnar claw (HP:0001178)2.46590690
27Spastic tetraparesis (HP:0001285)2.42684079
28Chronic bronchitis (HP:0004469)2.33193423
29Ketosis (HP:0001946)2.31754995
30Rhinitis (HP:0012384)2.27758168
31Bronchiectasis (HP:0002110)2.24521469
32Neuroendocrine neoplasm (HP:0100634)2.23411733
33Acute necrotizing encephalopathy (HP:0006965)2.21183261
34Ketoacidosis (HP:0001993)2.20893823
35Pancreatic fibrosis (HP:0100732)2.17118942
36Menstrual irregularities (HP:0000858)2.16560506
37Abnormality of the middle phalanges of the toes (HP:0010183)2.16552646
38Morphological abnormality of the middle ear (HP:0008609)2.14974992
39Insulin-resistant diabetes mellitus (HP:0000831)2.14667710
40Chronic sinusitis (HP:0011109)2.13674088
41Bony spicule pigmentary retinopathy (HP:0007737)2.13259279
42Chronic hepatic failure (HP:0100626)2.12938271
43Central scotoma (HP:0000603)2.11586236
44Hypoplasia of the fovea (HP:0007750)2.10850910
45Aplasia/Hypoplasia of the fovea (HP:0008060)2.10850910
46Abnormality of macular pigmentation (HP:0008002)2.08381387
47Cystic liver disease (HP:0006706)2.08116880
48Hypoplastic pelvis (HP:0008839)2.07836306
49Thyroiditis (HP:0100646)2.05289970
50Synostosis involving the elbow (HP:0003938)2.03675983
51Humeroradial synostosis (HP:0003041)2.03675983
52Nephronophthisis (HP:0000090)2.02299167
53Abnormality of the vocal cords (HP:0008777)2.01164580
54Abnormality of the fovea (HP:0000493)2.00333661
55Abnormality of proline metabolism (HP:0010907)2.00082382
56Hydroxyprolinuria (HP:0003080)2.00082382
57Adrenal hypoplasia (HP:0000835)1.98258054
58Abnormality of the nasal septum (HP:0000419)1.96427185
59Posterior subcapsular cataract (HP:0007787)1.95804310
60True hermaphroditism (HP:0010459)1.95782436
61Short 1st metacarpal (HP:0010034)1.94645609
62Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.94645609
63Long nose (HP:0003189)1.93504084
64Progressive macrocephaly (HP:0004481)1.89738348
65Median cleft lip (HP:0000161)1.88588746
66Large for gestational age (HP:0001520)1.88496449
67Wide nose (HP:0000445)1.87739147
68Abnormality of glycine metabolism (HP:0010895)1.86880593
69Abnormality of serine family amino acid metabolism (HP:0010894)1.86880593
70Acute encephalopathy (HP:0006846)1.86103219
71Facial hemangioma (HP:0000329)1.85945308
72Renal Fanconi syndrome (HP:0001994)1.85284133
73Sloping forehead (HP:0000340)1.85008439
74Absent thumb (HP:0009777)1.83247288
75Increased CSF lactate (HP:0002490)1.82423998
76Congenital, generalized hypertrichosis (HP:0004540)1.81911759
77Abnormality of the preputium (HP:0100587)1.81514325
78Poikiloderma (HP:0001029)1.80948657
79Abnormality of the proximal phalanges of the hand (HP:0009834)1.79025947
80Congenital stationary night blindness (HP:0007642)1.76992980
81Type I transferrin isoform profile (HP:0003642)1.75335018
82Medial flaring of the eyebrow (HP:0010747)1.74579999
83Amelogenesis imperfecta (HP:0000705)1.74056961
84Aplasia/Hypoplasia of the hallux (HP:0008362)1.72406941
85Agitation (HP:0000713)1.71872899
86Abnormality of the 1st metacarpal (HP:0010009)1.70775538
87Abnormality of the distal phalanges of the toes (HP:0010182)1.69898309
88Abnormal mitochondria in muscle tissue (HP:0008316)1.68907015
89Pancreatic islet-cell hyperplasia (HP:0004510)1.68251926
90Mitochondrial inheritance (HP:0001427)1.67160867
91Gonadotropin excess (HP:0000837)1.64689719
92Abnormality of the intrinsic pathway (HP:0010989)1.63878988
93Short hallux (HP:0010109)1.63643571
94Reduced antithrombin III activity (HP:0001976)1.63211336
95Progressive microcephaly (HP:0000253)1.62361654
96Microretrognathia (HP:0000308)1.61703801
97Dyschromatopsia (HP:0007641)1.61542387
98Fused cervical vertebrae (HP:0002949)1.61290074
99Small for gestational age (HP:0001518)1.61038737
100Severe combined immunodeficiency (HP:0004430)1.60723236

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MUSK5.46912542
2FRK3.12349629
3WNK32.02825514
4BMPR1B10.5116802
5TNIK1.84743095
6ACVR1B1.76755167
7STK161.76247601
8TGFBR11.71577364
9TAOK31.66470150
10VRK11.64621549
11ADRBK21.52206131
12GRK11.48721733
13MAP3K41.47502850
14AKT31.46538805
15CDK81.44017319
16CAMK1D1.43808512
17CAMK1G1.42963410
18MAP2K71.38149720
19EIF2AK31.37326208
20CDK31.37304263
21VRK21.35095410
22MST41.34854457
23PLK31.27263309
24PINK11.21827070
25PNCK1.17172398
26PLK21.10170701
27NEK91.08759039
28FGFR21.01388959
29PRKCE1.00519904
30SYK0.94558110
31IRAK10.94492578
32OXSR10.91462062
33NUAK10.90209460
34BCKDK0.89085511
35MAP3K120.88309596
36MKNK20.84470553
37DYRK20.83924636
38BRSK20.82525835
39TNK20.78929944
40PRKCG0.76780352
41ZAK0.75926204
42BUB10.75697260
43TLK10.73218824
44INSRR0.72117495
45WNK40.71145835
46MAPK130.62949925
47TEC0.62663900
48LMTK20.61313081
49STK390.60582739
50SGK2230.59090060
51SGK4940.59090060
52MYLK0.55095970
53CDK50.54825148
54ADRBK10.53956940
55MAP4K20.53345674
56MINK10.53003576
57MAPK120.52790135
58CAMKK20.52684317
59BRSK10.50833138
60PASK0.50228641
61DAPK10.49662500
62MKNK10.47398378
63IRAK20.45304318
64PRKCQ0.44778048
65FES0.44730957
66ITK0.43031363
67PLK10.42155557
68CHEK20.41137087
69PRKCD0.40893932
70CDK90.40528100
71NTRK30.38747713
72FYN0.37158279
73STK110.35365781
74IGF1R0.34740663
75PIK3CG0.34552229
76RPS6KB10.33062676
77DAPK20.32971453
78MAPK70.32075098
79CASK0.31498466
80TXK0.30531933
81EIF2AK10.30155861
82PRKCA0.27439863
83PRKACA0.27259907
84CSNK1G20.26650780
85TTK0.25243956
86PHKG20.25024055
87PHKG10.25024055
88CSNK1A10.24525650
89GRK60.24493119
90PRKG10.24245238
91TAOK10.23598205
92PRKACB0.22918293
93CSNK2A10.22596161
94EIF2AK20.22510332
95ILK0.22473324
96CAMK2D0.22424291
97BLK0.22057483
98CAMKK10.21972428
99ATM0.21554562
100SGK20.21482596

Predicted pathways (KEGG)

RankGene SetZ-score
1Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001305.20319927
2Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005633.81400478
3Protein export_Homo sapiens_hsa030603.12294143
4Selenocompound metabolism_Homo sapiens_hsa004502.97351130
5Oxidative phosphorylation_Homo sapiens_hsa001902.60677455
6RNA polymerase_Homo sapiens_hsa030202.37483250
7Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.22981036
8Homologous recombination_Homo sapiens_hsa034402.20190604
9Phototransduction_Homo sapiens_hsa047442.15249154
10Parkinsons disease_Homo sapiens_hsa050121.94972590
11Fatty acid elongation_Homo sapiens_hsa000621.92325885
12Maturity onset diabetes of the young_Homo sapiens_hsa049501.85875725
13Huntingtons disease_Homo sapiens_hsa050161.84567521
14Proteasome_Homo sapiens_hsa030501.80004026
15Sulfur metabolism_Homo sapiens_hsa009201.79245247
16Fanconi anemia pathway_Homo sapiens_hsa034601.72739674
17Butanoate metabolism_Homo sapiens_hsa006501.72166090
18Primary bile acid biosynthesis_Homo sapiens_hsa001201.70329926
19Dorso-ventral axis formation_Homo sapiens_hsa043201.57472212
20RNA degradation_Homo sapiens_hsa030181.57162532
21Retinol metabolism_Homo sapiens_hsa008301.56720882
22Alzheimers disease_Homo sapiens_hsa050101.55504147
23Regulation of autophagy_Homo sapiens_hsa041401.49305310
24Nicotine addiction_Homo sapiens_hsa050331.47684623
25Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.47479287
26Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.42856334
27Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.42771075
28Peroxisome_Homo sapiens_hsa041461.42544231
29Vitamin B6 metabolism_Homo sapiens_hsa007501.40791409
30* Pentose and glucuronate interconversions_Homo sapiens_hsa000401.29574120
31Chemical carcinogenesis_Homo sapiens_hsa052041.27571794
32Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.25927042
33Tryptophan metabolism_Homo sapiens_hsa003801.23806261
34Type I diabetes mellitus_Homo sapiens_hsa049401.22481251
35Non-homologous end-joining_Homo sapiens_hsa034501.17421672
36Basal transcription factors_Homo sapiens_hsa030221.12978459
37Mineral absorption_Homo sapiens_hsa049781.11388336
38Caffeine metabolism_Homo sapiens_hsa002321.09884210
39Linoleic acid metabolism_Homo sapiens_hsa005911.02353099
40Nitrogen metabolism_Homo sapiens_hsa009101.02151718
41Collecting duct acid secretion_Homo sapiens_hsa049660.96940863
42Purine metabolism_Homo sapiens_hsa002300.96784591
43One carbon pool by folate_Homo sapiens_hsa006700.95962030
44Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.93864871
45Arachidonic acid metabolism_Homo sapiens_hsa005900.91594344
46Insulin secretion_Homo sapiens_hsa049110.90940287
47Fatty acid degradation_Homo sapiens_hsa000710.89014000
48Pyrimidine metabolism_Homo sapiens_hsa002400.88039970
49Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.86601897
50Cardiac muscle contraction_Homo sapiens_hsa042600.81084398
51Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.79946874
52Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.78252323
53Taste transduction_Homo sapiens_hsa047420.77445142
54Glutathione metabolism_Homo sapiens_hsa004800.71283761
55* Metabolic pathways_Homo sapiens_hsa011000.67633386
56Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.65248267
57Circadian entrainment_Homo sapiens_hsa047130.65207338
58Fatty acid metabolism_Homo sapiens_hsa012120.64751032
59RNA transport_Homo sapiens_hsa030130.64493153
60Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.63379030
61Mismatch repair_Homo sapiens_hsa034300.63254289
62Primary immunodeficiency_Homo sapiens_hsa053400.62821331
63Long-term depression_Homo sapiens_hsa047300.61434752
64Ribosome_Homo sapiens_hsa030100.60922800
65Olfactory transduction_Homo sapiens_hsa047400.60374733
66Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.57958750
67Asthma_Homo sapiens_hsa053100.57892289
68alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.57222151
69Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.56947215
70Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.56192574
71Cyanoamino acid metabolism_Homo sapiens_hsa004600.55585788
72Serotonergic synapse_Homo sapiens_hsa047260.55567652
73Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.55212157
74SNARE interactions in vesicular transport_Homo sapiens_hsa041300.54569652
75Cysteine and methionine metabolism_Homo sapiens_hsa002700.53308339
76Ether lipid metabolism_Homo sapiens_hsa005650.48550986
77Basal cell carcinoma_Homo sapiens_hsa052170.48405040
78Glutamatergic synapse_Homo sapiens_hsa047240.47360120
79Calcium signaling pathway_Homo sapiens_hsa040200.46437146
80N-Glycan biosynthesis_Homo sapiens_hsa005100.46380684
81Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.41859749
82Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.41733131
83Dopaminergic synapse_Homo sapiens_hsa047280.41246214
84Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.40765568
85Steroid hormone biosynthesis_Homo sapiens_hsa001400.40116150
86Glucagon signaling pathway_Homo sapiens_hsa049220.39073571
87Sulfur relay system_Homo sapiens_hsa041220.38860877
88Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.38539263
89GABAergic synapse_Homo sapiens_hsa047270.38324872
90Oocyte meiosis_Homo sapiens_hsa041140.37787008
91Synaptic vesicle cycle_Homo sapiens_hsa047210.37373947
92Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.36620823
93Rheumatoid arthritis_Homo sapiens_hsa053230.35782707
94Steroid biosynthesis_Homo sapiens_hsa001000.34394631
95Intestinal immune network for IgA production_Homo sapiens_hsa046720.33427530
96Morphine addiction_Homo sapiens_hsa050320.32676465
97Vascular smooth muscle contraction_Homo sapiens_hsa042700.30487811
98Type II diabetes mellitus_Homo sapiens_hsa049300.30226136
99Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.29142902
100Arginine biosynthesis_Homo sapiens_hsa002200.28541650

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