DDX50P2

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
1DNA deamination (GO:0045006)5.49839868
2water-soluble vitamin biosynthetic process (GO:0042364)4.65268309
3establishment of protein localization to mitochondrial membrane (GO:0090151)4.45270660
4DNA ligation (GO:0006266)4.39538860
5respiratory chain complex IV assembly (GO:0008535)4.19590567
6maturation of 5.8S rRNA (GO:0000460)3.94500161
7negative regulation of acute inflammatory response (GO:0002674)3.93770388
8piRNA metabolic process (GO:0034587)3.92822584
9exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.71861080
10cytochrome complex assembly (GO:0017004)3.69393039
11protein complex biogenesis (GO:0070271)3.57537119
12isotype switching (GO:0045190)3.54870734
13somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.54870734
14somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.54870734
15regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)3.52397709
16platelet dense granule organization (GO:0060155)3.49698284
17nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.47777626
18synapsis (GO:0007129)3.39215930
19mitochondrial respiratory chain complex assembly (GO:0033108)3.36426002
20positive regulation of mitochondrial fission (GO:0090141)3.33450879
21fucose catabolic process (GO:0019317)3.31542213
22L-fucose metabolic process (GO:0042354)3.31542213
23L-fucose catabolic process (GO:0042355)3.31542213
24regulation of glucokinase activity (GO:0033131)3.26875868
25regulation of hexokinase activity (GO:1903299)3.26875868
26phosphatidylinositol acyl-chain remodeling (GO:0036149)3.20240721
27chaperone-mediated protein transport (GO:0072321)3.19776556
28RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.18907583
29RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.17256663
30tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.17256663
31positive regulation of sodium ion transmembrane transporter activity (GO:2000651)3.15924374
32adaptation of signaling pathway (GO:0023058)3.15678702
33single strand break repair (GO:0000012)3.14317440
34cytokine production involved in immune response (GO:0002367)3.13626132
35adult feeding behavior (GO:0008343)3.11391527
36regulation of immunoglobulin secretion (GO:0051023)3.10178904
37regulation of cellular amino acid metabolic process (GO:0006521)3.08451087
38regulation of isotype switching to IgG isotypes (GO:0048302)3.08423593
39protein polyglutamylation (GO:0018095)3.05881839
40organelle disassembly (GO:1903008)3.03548065
41rRNA modification (GO:0000154)3.01179559
42mitochondrial respiratory chain complex I assembly (GO:0032981)3.00974989
43NADH dehydrogenase complex assembly (GO:0010257)3.00974989
44mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.00974989
45positive regulation of granulocyte differentiation (GO:0030854)2.99180834
46DNA methylation involved in gamete generation (GO:0043046)2.99060434
47regulation of interleukin-6 biosynthetic process (GO:0045408)2.96540803
48regulation of mitochondrial translation (GO:0070129)2.93372703
49magnesium ion transport (GO:0015693)2.93331390
50T cell differentiation involved in immune response (GO:0002292)2.93120292
51alpha-beta T cell differentiation involved in immune response (GO:0002293)2.93120292
52alpha-beta T cell activation involved in immune response (GO:0002287)2.93120292
53protein K6-linked ubiquitination (GO:0085020)2.88336213
54rRNA methylation (GO:0031167)2.87938959
55regulation of chronic inflammatory response (GO:0002676)2.84623097
56negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.83133145
57phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.82931177
58production of molecular mediator of immune response (GO:0002440)2.80556664
59tryptophan metabolic process (GO:0006568)2.80341351
60indolalkylamine metabolic process (GO:0006586)2.77917007
61DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.76932516
62indole-containing compound catabolic process (GO:0042436)2.75022803
63indolalkylamine catabolic process (GO:0046218)2.75022803
64tryptophan catabolic process (GO:0006569)2.75022803
65regulation of MHC class II biosynthetic process (GO:0045346)2.74566736
66negative regulation of heart rate (GO:0010459)2.74537088
67intracellular protein transmembrane import (GO:0044743)2.72667905
68behavioral response to nicotine (GO:0035095)2.72144429
69kinetochore assembly (GO:0051382)2.71363191
70proteasome assembly (GO:0043248)2.70138287
71ribonucleoprotein complex disassembly (GO:0032988)2.69782589
72signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.69512911
73signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.69512911
74signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.69512911
75positive regulation of organelle assembly (GO:1902117)2.67702553
76positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.66597372
77intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.65954972
78signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.65954972
79phosphatidylserine acyl-chain remodeling (GO:0036150)2.63383281
80regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)2.62192409
81GTP biosynthetic process (GO:0006183)2.58376150
82rRNA catabolic process (GO:0016075)2.57408906
83regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.56159634
84CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.55918533
85hindbrain development (GO:0030902)2.55372956
86positive regulation of gastrulation (GO:2000543)2.55061760
87polyketide metabolic process (GO:0030638)2.54895544
88doxorubicin metabolic process (GO:0044598)2.54895544
89daunorubicin metabolic process (GO:0044597)2.54895544
90negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.52837939
91negative regulation of ligase activity (GO:0051352)2.52837939
92signal peptide processing (GO:0006465)2.52571486
93regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.51730736
94negative regulation of meiotic cell cycle (GO:0051447)2.50982730
95signal transduction involved in DNA damage checkpoint (GO:0072422)2.50512373
96signal transduction involved in DNA integrity checkpoint (GO:0072401)2.50512373
97signal transduction involved in cell cycle checkpoint (GO:0072395)2.49955233
98auditory receptor cell stereocilium organization (GO:0060088)2.47970733
99phosphatidylcholine acyl-chain remodeling (GO:0036151)2.47239088
100T-helper cell differentiation (GO:0042093)2.44709008

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.05833085
2HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.81201051
3NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.47056891
4ZNF274_21170338_ChIP-Seq_K562_Hela3.43628255
5GABP_17652178_ChIP-ChIP_JURKAT_Human3.10835068
6VDR_22108803_ChIP-Seq_LS180_Human3.03804402
7ELF1_17652178_ChIP-ChIP_JURKAT_Human2.93206814
8IGF1R_20145208_ChIP-Seq_DFB_Human2.87464539
9EST1_17652178_ChIP-ChIP_JURKAT_Human2.84687603
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.79728044
11HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.68829794
12IRF1_19129219_ChIP-ChIP_H3396_Human2.54689067
13EWS_26573619_Chip-Seq_HEK293_Human2.41821555
14TAF15_26573619_Chip-Seq_HEK293_Human2.32244077
15POU3F2_20337985_ChIP-ChIP_501MEL_Human2.24243064
16ZFP57_27257070_Chip-Seq_ESCs_Mouse2.22438239
17JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.17560141
18VDR_23849224_ChIP-Seq_CD4+_Human2.17425759
19FLI1_27457419_Chip-Seq_LIVER_Mouse2.03049050
20GBX2_23144817_ChIP-Seq_PC3_Human1.95061391
21FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.92980211
22ELK1_19687146_ChIP-ChIP_HELA_Human1.86796088
23TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.84769414
24CREB1_15753290_ChIP-ChIP_HEK293T_Human1.84655665
25PCGF2_27294783_Chip-Seq_ESCs_Mouse1.79542029
26MYC_18940864_ChIP-ChIP_HL60_Human1.77189269
27FOXP3_21729870_ChIP-Seq_TREG_Human1.74719212
28MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.74595080
29CTBP2_25329375_ChIP-Seq_LNCAP_Human1.73132124
30P300_19829295_ChIP-Seq_ESCs_Human1.70893097
31SRF_21415370_ChIP-Seq_HL-1_Mouse1.70014334
32ER_23166858_ChIP-Seq_MCF-7_Human1.67663435
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.65393881
34GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.63376370
35ETS1_20019798_ChIP-Seq_JURKAT_Human1.62810246
36PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.61053967
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.59090490
38HTT_18923047_ChIP-ChIP_STHdh_Human1.58946975
39FUS_26573619_Chip-Seq_HEK293_Human1.56891965
40TP53_22573176_ChIP-Seq_HFKS_Human1.55945662
41EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.52636381
42EZH2_22144423_ChIP-Seq_EOC_Human1.50611702
43PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.48960901
44CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.43017378
45SALL1_21062744_ChIP-ChIP_HESCs_Human1.42610807
46EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.36907625
47NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.35890779
48NANOG_19829295_ChIP-Seq_ESCs_Human1.33903465
49SOX2_19829295_ChIP-Seq_ESCs_Human1.33903465
50FOXA1_27270436_Chip-Seq_PROSTATE_Human1.31786319
51FOXA1_25329375_ChIP-Seq_VCAP_Human1.31786319
52CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.25247961
53MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.23287146
54BP1_19119308_ChIP-ChIP_Hs578T_Human1.20726165
55NCOR_22424771_ChIP-Seq_293T_Human1.20574894
56SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.18699318
57PCGF2_27294783_Chip-Seq_NPCs_Mouse1.18411522
58AR_20517297_ChIP-Seq_VCAP_Human1.17668286
59CBP_20019798_ChIP-Seq_JUKART_Human1.15980927
60IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.15980927
61ETV2_25802403_ChIP-Seq_MESCs_Mouse1.15391920
62FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.15373591
63UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.15073313
64GATA3_26560356_Chip-Seq_TH2_Human1.13825451
65PRDM14_20953172_ChIP-Seq_ESCs_Human1.13070633
66HOXB4_20404135_ChIP-ChIP_EML_Mouse1.11465413
67PADI4_21655091_ChIP-ChIP_MCF-7_Human1.09794375
68IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.09715133
69IRF8_22096565_ChIP-ChIP_GC-B_Human1.08282225
70AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.07433940
71EZH2_27294783_Chip-Seq_NPCs_Mouse1.04281357
72CRX_20693478_ChIP-Seq_RETINA_Mouse1.02552377
73NOTCH1_21737748_ChIP-Seq_TLL_Human1.02220210
74NFE2_27457419_Chip-Seq_LIVER_Mouse1.01949776
75FLI1_21867929_ChIP-Seq_TH2_Mouse1.01153447
76AR_25329375_ChIP-Seq_VCAP_Human1.00484955
77RNF2_27304074_Chip-Seq_NSC_Mouse0.98060537
78MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.97665255
79SUZ12_27294783_Chip-Seq_NPCs_Mouse0.97500613
80TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.96868288
81TCF4_22108803_ChIP-Seq_LS180_Human0.96614778
82IRF8_21731497_ChIP-ChIP_J774_Mouse0.93783130
83RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.93648792
84FOXH1_21741376_ChIP-Seq_EPCs_Human0.93185127
85IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.91483290
86SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.91444853
87SMAD4_21741376_ChIP-Seq_EPCs_Human0.91122496
88KLF5_20875108_ChIP-Seq_MESCs_Mouse0.90903735
89REST_18959480_ChIP-ChIP_MESCs_Mouse0.90416537
90FOXA1_21572438_ChIP-Seq_LNCaP_Human0.89324630
91BMI1_23680149_ChIP-Seq_NPCS_Mouse0.88442546
92GATA3_21878914_ChIP-Seq_MCF-7_Human0.87903529
93PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.87281375
94GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.87063101
95CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.86240795
96E2F4_17652178_ChIP-ChIP_JURKAT_Human0.85969211
97TAL1_26923725_Chip-Seq_HPCs_Mouse0.85862212
98CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.85832224
99HOXB7_26014856_ChIP-Seq_BT474_Human0.84918370
100RUNX2_22187159_ChIP-Seq_PCA_Human0.84691078

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003011_delayed_dark_adaptation3.24736586
2MP0008872_abnormal_physiological_respon3.05303792
3MP0006276_abnormal_autonomic_nervous2.80288320
4MP0008875_abnormal_xenobiotic_pharmacok2.65738115
5MP0001348_abnormal_lacrimal_gland2.63910067
6MP0002102_abnormal_ear_morphology2.57711875
7MP0001873_stomach_inflammation2.52809552
8MP0002876_abnormal_thyroid_physiology2.48785343
9MP0001986_abnormal_taste_sensitivity2.42200815
10MP0006072_abnormal_retinal_apoptosis2.31012804
11MP0002160_abnormal_reproductive_system2.24557255
12MP0002837_dystrophic_cardiac_calcinosis2.16912031
13MP0008877_abnormal_DNA_methylation2.13711961
14MP0001529_abnormal_vocalization2.07478325
15MP0005646_abnormal_pituitary_gland1.98789455
16MP0001835_abnormal_antigen_presentation1.96496994
17MP0005084_abnormal_gallbladder_morpholo1.94025909
18MP0005389_reproductive_system_phenotype1.93638782
19MP0002254_reproductive_system_inflammat1.93284480
20MP0002693_abnormal_pancreas_physiology1.90036568
21MP0000427_abnormal_hair_cycle1.79431269
22MP0005551_abnormal_eye_electrophysiolog1.78613418
23MP0003787_abnormal_imprinting1.77806313
24MP0003880_abnormal_central_pattern1.77114893
25MP0005671_abnormal_response_to1.74508139
26MP0005253_abnormal_eye_physiology1.69976636
27MP0009780_abnormal_chondrocyte_physiolo1.68974553
28MP0003724_increased_susceptibility_to1.66650679
29MP0001919_abnormal_reproductive_system1.62648794
30MP0001984_abnormal_olfaction1.59634375
31MP0003195_calcinosis1.56812750
32MP0009379_abnormal_foot_pigmentation1.54125467
33MP0003283_abnormal_digestive_organ1.53646985
34MP0005410_abnormal_fertilization1.44598000
35MP0003786_premature_aging1.42494418
36MP0009046_muscle_twitch1.34443983
37MP0006082_CNS_inflammation1.30882001
38MP0006036_abnormal_mitochondrial_physio1.30176766
39MP0009697_abnormal_copulation1.30066425
40MP0002234_abnormal_pharynx_morphology1.28372877
41MP0003806_abnormal_nucleotide_metabolis1.28333719
42MP0001663_abnormal_digestive_system1.27722084
43MP0002272_abnormal_nervous_system1.26778796
44MP0008995_early_reproductive_senescence1.24611465
45MP0005645_abnormal_hypothalamus_physiol1.20245164
46MP0008058_abnormal_DNA_repair1.19606315
47MP0003303_peritoneal_inflammation1.19431349
48MP0000569_abnormal_digit_pigmentation1.19038753
49MP0004142_abnormal_muscle_tone1.15386382
50MP0004145_abnormal_muscle_electrophysio1.12597557
51MP0002822_catalepsy1.11010751
52MP0001968_abnormal_touch/_nociception1.07937355
53MP0009785_altered_susceptibility_to1.07496073
54MP0004133_heterotaxia1.06739748
55MP0000372_irregular_coat_pigmentation1.02390659
56MP0001944_abnormal_pancreas_morphology1.01295851
57MP0004147_increased_porphyrin_level1.01191118
58MP0005220_abnormal_exocrine_pancreas1.00152261
59MP0008775_abnormal_heart_ventricle1.00108666
60MP0003718_maternal_effect0.99351088
61MP0001764_abnormal_homeostasis0.97885320
62MP0003866_abnormal_defecation0.95521162
63MP0003186_abnormal_redox_activity0.94712703
64MP0005075_abnormal_melanosome_morpholog0.94390172
65MP0002751_abnormal_autonomic_nervous0.94243727
66MP0002277_abnormal_respiratory_mucosa0.93496251
67MP0003646_muscle_fatigue0.92621282
68MP0002638_abnormal_pupillary_reflex0.91754112
69MP0002148_abnormal_hypersensitivity_rea0.91503728
70MP0008961_abnormal_basal_metabolism0.91452421
71MP0002557_abnormal_social/conspecific_i0.91202177
72MP0001905_abnormal_dopamine_level0.90963309
73MP0005381_digestive/alimentary_phenotyp0.90573116
74MP0002736_abnormal_nociception_after0.90051877
75MP0001502_abnormal_circadian_rhythm0.89672121
76MP0005379_endocrine/exocrine_gland_phen0.85891064
77MP0001188_hyperpigmentation0.85853972
78MP0010386_abnormal_urinary_bladder0.85335149
79MP0009745_abnormal_behavioral_response0.82567464
80MP0001800_abnormal_humoral_immune0.82522748
81MP0004084_abnormal_cardiac_muscle0.81307233
82MP0008004_abnormal_stomach_pH0.80526755
83MP0003137_abnormal_impulse_conducting0.80226922
84MP0003890_abnormal_embryonic-extraembry0.79645650
85MP0000685_abnormal_immune_system0.79386216
86MP0002653_abnormal_ependyma_morphology0.79144627
87MP0005387_immune_system_phenotype0.77700356
88MP0001790_abnormal_immune_system0.77700356
89MP0003119_abnormal_digestive_system0.77118904
90MP0000013_abnormal_adipose_tissue0.76328368
91MP0005000_abnormal_immune_tolerance0.74765888
92MP0006292_abnormal_olfactory_placode0.74306191
93MP0004742_abnormal_vestibular_system0.74081589
94MP0002733_abnormal_thermal_nociception0.73836820
95MP0010094_abnormal_chromosome_stability0.73249212
96MP0004043_abnormal_pH_regulation0.73204357
97MP0004885_abnormal_endolymph0.73158978
98MP0005423_abnormal_somatic_nervous0.71987164
99MP0006035_abnormal_mitochondrial_morpho0.71803968
100MP0005167_abnormal_blood-brain_barrier0.70328637

Predicted human phenotypes

RankGene SetZ-score
1Absent rod-and cone-mediated responses on ERG (HP:0007688)4.40859157
2Hypothermia (HP:0002045)4.06567958
3Increased hepatocellular lipid droplets (HP:0006565)3.76197645
4Short tibia (HP:0005736)3.72221310
5Hypoglycemic coma (HP:0001325)3.69905010
6Pendular nystagmus (HP:0012043)3.46442741
7Renal cortical cysts (HP:0000803)3.45857148
8Aplasia/Hypoplasia of the tibia (HP:0005772)3.42682199
9Lipid accumulation in hepatocytes (HP:0006561)3.33542975
10Abnormal rod and cone electroretinograms (HP:0008323)3.33321067
11Progressive inability to walk (HP:0002505)3.11532960
12Type II lissencephaly (HP:0007260)3.09536112
13Ketoacidosis (HP:0001993)3.07305484
14Hyperinsulinemic hypoglycemia (HP:0000825)3.05441198
15Methylmalonic acidemia (HP:0002912)3.00560239
16Type 2 muscle fiber atrophy (HP:0003554)2.99791099
17Increased CSF lactate (HP:0002490)2.95509759
18Hypomagnesemia (HP:0002917)2.87322306
19Inability to walk (HP:0002540)2.87010849
20Gonadal dysgenesis (HP:0000133)2.85143334
21Facial diplegia (HP:0001349)2.82180081
22Mitochondrial inheritance (HP:0001427)2.72823528
23Hypoglycemic seizures (HP:0002173)2.70076957
24Hepatic necrosis (HP:0002605)2.68950058
25Abnormality of the renal cortex (HP:0011035)2.67035192
26Attenuation of retinal blood vessels (HP:0007843)2.65635814
27Disproportionate short-trunk short stature (HP:0003521)2.65298654
28Colon cancer (HP:0003003)2.64774908
29Acute necrotizing encephalopathy (HP:0006965)2.59838996
30Large for gestational age (HP:0001520)2.59251274
31Abnormality of the prostate (HP:0008775)2.59174836
32Abnormality of alanine metabolism (HP:0010916)2.57740227
33Hyperalaninemia (HP:0003348)2.57740227
34Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.57740227
35Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.52362691
36Decreased activity of mitochondrial respiratory chain (HP:0008972)2.52362691
37Glycosuria (HP:0003076)2.52304903
38Abnormality of urine glucose concentration (HP:0011016)2.52304903
39Congenital stationary night blindness (HP:0007642)2.51056219
40Retinal dysplasia (HP:0007973)2.50790616
41Exertional dyspnea (HP:0002875)2.47274202
42Acute encephalopathy (HP:0006846)2.46293942
43Muscle fiber atrophy (HP:0100295)2.45812720
44Abolished electroretinogram (ERG) (HP:0000550)2.43970485
45Cerebellar dysplasia (HP:0007033)2.43230951
46Molar tooth sign on MRI (HP:0002419)2.41555526
47Abnormality of midbrain morphology (HP:0002418)2.41555526
48Abnormal albumin level (HP:0012116)2.40597167
49Hypoalbuminemia (HP:0003073)2.40597167
50Constricted visual fields (HP:0001133)2.40231630
51Pancreatic fibrosis (HP:0100732)2.39184223
52Medial flaring of the eyebrow (HP:0010747)2.36558514
53Ketosis (HP:0001946)2.36123878
54Generalized aminoaciduria (HP:0002909)2.35912971
55Hyperglycemia (HP:0003074)2.34297429
56Methylmalonic aciduria (HP:0012120)2.34120432
57Bony spicule pigmentary retinopathy (HP:0007737)2.33428832
58Renal Fanconi syndrome (HP:0001994)2.33243082
59Absent/shortened dynein arms (HP:0200106)2.31159746
60Dynein arm defect of respiratory motile cilia (HP:0012255)2.31159746
61Optic disc pallor (HP:0000543)2.27688730
62Nephronophthisis (HP:0000090)2.26722174
63Lissencephaly (HP:0001339)2.26632975
64Atonic seizures (HP:0010819)2.23449696
65Hepatocellular necrosis (HP:0001404)2.23294978
66Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.23118198
67Gaze-evoked nystagmus (HP:0000640)2.19892016
68Progressive macrocephaly (HP:0004481)2.18646169
69Increased serum lactate (HP:0002151)2.17449313
70Metaphyseal dysplasia (HP:0100255)2.16377092
71Pancreatic cysts (HP:0001737)2.14329645
72Abnormal respiratory motile cilium morphology (HP:0005938)2.12198386
73Abnormal respiratory epithelium morphology (HP:0012253)2.12198386
74Hypoproteinemia (HP:0003075)2.12067366
75Abnormality of magnesium homeostasis (HP:0004921)2.09274970
76Stomatitis (HP:0010280)2.09113289
77Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.09066653
78Lactic acidosis (HP:0003128)2.07440175
79Abnormal mitochondria in muscle tissue (HP:0008316)2.05532355
80Bile duct proliferation (HP:0001408)1.97750764
81Abnormal biliary tract physiology (HP:0012439)1.97750764
82Progressive microcephaly (HP:0000253)1.96280127
83Increased intramyocellular lipid droplets (HP:0012240)1.94769834
84Polyuria (HP:0000103)1.91352804
85IgG deficiency (HP:0004315)1.88062698
86True hermaphroditism (HP:0010459)1.88052707
87Abnormality of dicarboxylic acid metabolism (HP:0010995)1.87729994
88Dicarboxylic aciduria (HP:0003215)1.87729994
89Pachygyria (HP:0001302)1.85042536
90Hyperglycinemia (HP:0002154)1.84339487
913-Methylglutaconic aciduria (HP:0003535)1.84160635
92Prostate neoplasm (HP:0100787)1.80449947
93Symptomatic seizures (HP:0011145)1.79592934
94Abnormality of the labia minora (HP:0012880)1.77876593
95Abnormality of vitamin B metabolism (HP:0004340)1.77826766
96Severe combined immunodeficiency (HP:0004430)1.77327019
97Prominent metopic ridge (HP:0005487)1.76928369
98Chronic hepatic failure (HP:0100626)1.76665099
99Delayed CNS myelination (HP:0002188)1.76302285
100Chorioretinal atrophy (HP:0000533)1.76267216

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K24.18991900
2TIE12.90129810
3MKNK12.81595221
4NUAK12.71014347
5TNK22.54548536
6STK162.47013646
7EIF2AK32.45129558
8INSRR2.41930183
9TLK12.28051183
10PBK2.20125208
11ZAK2.18671547
12TNIK2.02555257
13WNK41.95655359
14WNK31.82266136
15BMPR21.78176504
16ADRBK21.73416089
17MAPKAPK51.68511440
18BMPR1B1.68379798
19GRK11.64934681
20FRK1.62995959
21TRIM281.62310875
22TXK1.61313111
23BUB11.59504475
24BRD41.55551869
25PLK41.49126335
26DAPK21.48064776
27VRK21.46972159
28PINK11.44235428
29PLK31.35529453
30STK38L1.34922382
31VRK11.28458642
32NEK11.25627786
33TEC1.25325389
34MAP3K121.19663244
35CSNK1G31.16607750
36TSSK61.15215175
37CDK81.14546061
38MAP2K71.05714554
39MAP3K41.02308005
40PASK1.02290641
41ERBB30.99782271
42CSNK1G20.98333844
43SRPK10.96403438
44RPS6KA50.92444018
45ITK0.92035981
46FLT30.91989085
47RIPK40.90172115
48EIF2AK10.89314271
49ACVR1B0.87677614
50CSNK1A1L0.85971538
51CSNK1G10.85672876
52PAK30.83558037
53PHKG10.83514535
54PHKG20.83514535
55OXSR10.83112868
56STK240.82592289
57CAMKK20.81927786
58MAPK130.81664417
59PRKCQ0.76571203
60FER0.75059782
61DYRK20.74204059
62TAOK30.73247959
63STK40.70663748
64ADRBK10.69022508
65MINK10.66659620
66MYLK0.65923494
67EPHA30.64589918
68BRSK20.64393100
69BTK0.60609985
70SCYL20.59970429
71KDR0.59247464
72DAPK10.58656227
73LIMK10.58295848
74DYRK30.57249479
75PLK10.53434518
76BCR0.53197938
77MARK10.52244612
78CSNK1A10.48065218
79PRKCE0.46598124
80CSF1R0.46272907
81STK30.45761005
82MKNK20.44503995
83SIK30.44466275
84SYK0.43701783
85KIT0.43624817
86BCKDK0.43444843
87STK390.41224359
88AKT30.40691426
89MAP2K60.40452137
90TESK20.38777476
91PLK20.38555222
92IKBKB0.38080302
93ALK0.37638196
94MST40.35310973
95NME10.35265171
96PRKCI0.34055473
97NTRK30.33376120
98NLK0.32838910
99PRKCG0.32690824
100FES0.31316881

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.68955714
2Asthma_Homo sapiens_hsa053103.41482928
3Maturity onset diabetes of the young_Homo sapiens_hsa049503.30545998
4Intestinal immune network for IgA production_Homo sapiens_hsa046723.18429979
5Protein export_Homo sapiens_hsa030603.10494422
6Allograft rejection_Homo sapiens_hsa053302.85455892
7Autoimmune thyroid disease_Homo sapiens_hsa053202.77838310
8Phototransduction_Homo sapiens_hsa047442.67939030
9Oxidative phosphorylation_Homo sapiens_hsa001902.49284202
10Linoleic acid metabolism_Homo sapiens_hsa005912.19653612
11RNA degradation_Homo sapiens_hsa030182.16616833
12alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.03386874
13Basal transcription factors_Homo sapiens_hsa030222.00029491
14Type I diabetes mellitus_Homo sapiens_hsa049401.97016745
15Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.87954702
16Parkinsons disease_Homo sapiens_hsa050121.85122503
17Butanoate metabolism_Homo sapiens_hsa006501.82438793
18Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.78696545
19Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.68612520
20Homologous recombination_Homo sapiens_hsa034401.67174386
21Fanconi anemia pathway_Homo sapiens_hsa034601.51152399
22Mismatch repair_Homo sapiens_hsa034301.48674585
23RNA polymerase_Homo sapiens_hsa030201.47851469
24Ether lipid metabolism_Homo sapiens_hsa005651.46340810
25Graft-versus-host disease_Homo sapiens_hsa053321.43147429
26Collecting duct acid secretion_Homo sapiens_hsa049661.42551133
27Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.37190386
28Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.32520263
29Arachidonic acid metabolism_Homo sapiens_hsa005901.27417497
30Selenocompound metabolism_Homo sapiens_hsa004501.26620208
31Tryptophan metabolism_Homo sapiens_hsa003801.20811406
32Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.18431320
33Non-homologous end-joining_Homo sapiens_hsa034501.16989682
34Rheumatoid arthritis_Homo sapiens_hsa053231.16983178
35Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.14322770
36Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.11126632
37Sulfur metabolism_Homo sapiens_hsa009201.10825187
38Nucleotide excision repair_Homo sapiens_hsa034201.08489984
39Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.07300753
40Fatty acid elongation_Homo sapiens_hsa000621.05442727
41Regulation of autophagy_Homo sapiens_hsa041401.05351111
42One carbon pool by folate_Homo sapiens_hsa006701.02762499
43RNA transport_Homo sapiens_hsa030131.02069326
44Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.01939177
45Propanoate metabolism_Homo sapiens_hsa006400.99694181
46Huntingtons disease_Homo sapiens_hsa050160.97813360
47Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.97335027
48Base excision repair_Homo sapiens_hsa034100.90754977
49Hematopoietic cell lineage_Homo sapiens_hsa046400.88085963
50Peroxisome_Homo sapiens_hsa041460.86039062
51DNA replication_Homo sapiens_hsa030300.84536568
52Caffeine metabolism_Homo sapiens_hsa002320.84535626
53Alzheimers disease_Homo sapiens_hsa050100.84116828
54Primary immunodeficiency_Homo sapiens_hsa053400.83793976
55SNARE interactions in vesicular transport_Homo sapiens_hsa041300.83051916
56Insulin secretion_Homo sapiens_hsa049110.82551363
57Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.77049719
58Antigen processing and presentation_Homo sapiens_hsa046120.74462194
59Ribosome_Homo sapiens_hsa030100.72731396
60Ovarian steroidogenesis_Homo sapiens_hsa049130.70553539
61Taste transduction_Homo sapiens_hsa047420.69800396
62Nicotine addiction_Homo sapiens_hsa050330.69518152
63Pyrimidine metabolism_Homo sapiens_hsa002400.67813867
64Purine metabolism_Homo sapiens_hsa002300.67330473
65Serotonergic synapse_Homo sapiens_hsa047260.65103715
66Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.63731158
67Retinol metabolism_Homo sapiens_hsa008300.63569319
68Cardiac muscle contraction_Homo sapiens_hsa042600.62356348
69Metabolic pathways_Homo sapiens_hsa011000.58547663
70GABAergic synapse_Homo sapiens_hsa047270.53202049
71Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.50620027
72Morphine addiction_Homo sapiens_hsa050320.49966174
73Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.45906579
74Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.44287200
75Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.44226977
76Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.44109512
77Spliceosome_Homo sapiens_hsa030400.42678255
78Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.40854890
79Fat digestion and absorption_Homo sapiens_hsa049750.39566677
80Steroid hormone biosynthesis_Homo sapiens_hsa001400.39376547
81Steroid biosynthesis_Homo sapiens_hsa001000.38936669
82Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.38438592
83Nitrogen metabolism_Homo sapiens_hsa009100.37351076
84Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.36754407
85Viral myocarditis_Homo sapiens_hsa054160.36157724
86Olfactory transduction_Homo sapiens_hsa047400.35617773
87Circadian entrainment_Homo sapiens_hsa047130.30730066
88Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.30477745
89Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.29582366
90Renin-angiotensin system_Homo sapiens_hsa046140.27237621
91Long-term depression_Homo sapiens_hsa047300.26975105
92Salivary secretion_Homo sapiens_hsa049700.25829036
93Glutathione metabolism_Homo sapiens_hsa004800.25461348
94Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.25182276
95Glutamatergic synapse_Homo sapiens_hsa047240.24765463
96Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.24661097
97Oocyte meiosis_Homo sapiens_hsa041140.23610183
98NOD-like receptor signaling pathway_Homo sapiens_hsa046210.22245255
99Legionellosis_Homo sapiens_hsa051340.22212161
100p53 signaling pathway_Homo sapiens_hsa041150.21834338

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