SLC25A52

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





Description: This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is currently classified as a protein-coding locus. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1fusion of sperm to egg plasma membrane (GO:0007342)6.26551199
2multicellular organism reproduction (GO:0032504)6.26221178
3regulation of cellular respiration (GO:0043457)6.03267402
4regulation of phosphoprotein phosphatase activity (GO:0043666)5.53185533
5regulation of cilium movement (GO:0003352)5.40549761
6male meiosis (GO:0007140)5.38556003
7sperm motility (GO:0030317)4.97543330
8relaxation of smooth muscle (GO:0044557)4.97483109
9acrosome reaction (GO:0007340)4.96863908
10positive regulation of synaptic transmission, dopaminergic (GO:0032226)4.87809999
11positive regulation of catecholamine secretion (GO:0033605)4.85587583
12plasma membrane fusion (GO:0045026)4.72114344
13negative regulation of cardiac muscle cell apoptotic process (GO:0010667)4.71733329
14ribosomal small subunit biogenesis (GO:0042274)4.68333631
15positive regulation of mast cell degranulation (GO:0043306)4.60822256
16positive regulation of mast cell activation involved in immune response (GO:0033008)4.60822256
17tongue development (GO:0043586)4.38120773
18negative regulation of heart rate (GO:0010459)4.24736518
19spermatid development (GO:0007286)4.24384664
20regulation of oxidative phosphorylation (GO:0002082)4.17857724
21regulation of autophagic vacuole assembly (GO:2000785)4.15510193
22regulation of hypersensitivity (GO:0002883)4.12145054
23synapsis (GO:0007129)4.12060113
24reproduction (GO:0000003)4.09368326
25positive regulation of inflammatory response to antigenic stimulus (GO:0002863)4.04973509
26positive regulation of fibroblast migration (GO:0010763)3.93467977
27T cell costimulation (GO:0031295)3.91815963
28regulation of vacuole organization (GO:0044088)3.86744978
29lymphocyte costimulation (GO:0031294)3.86143179
30tryptophan catabolic process (GO:0006569)3.85142914
31indole-containing compound catabolic process (GO:0042436)3.85142914
32indolalkylamine catabolic process (GO:0046218)3.85142914
33sperm-egg recognition (GO:0035036)3.80166222
34cellular response to interleukin-15 (GO:0071350)3.74117705
35response to acidic pH (GO:0010447)3.73759422
36polyamine biosynthetic process (GO:0006596)3.73462826
37binding of sperm to zona pellucida (GO:0007339)3.71104201
38regulation of glomerular filtration (GO:0003093)3.52446321
39single fertilization (GO:0007338)3.51121958
40coenzyme catabolic process (GO:0009109)3.49830615
41positive regulation of myeloid leukocyte mediated immunity (GO:0002888)3.47347494
42immunoglobulin mediated immune response (GO:0016064)3.46511091
43positive regulation of mast cell activation (GO:0033005)3.46230081
44positive regulation of leukocyte degranulation (GO:0043302)3.45770519
45Arp2/3 complex-mediated actin nucleation (GO:0034314)3.44804404
46cGMP-mediated signaling (GO:0019934)3.42876499
47potassium ion import (GO:0010107)3.42374014
48autophagic vacuole fusion (GO:0000046)3.37934541
49negative regulation of striated muscle cell apoptotic process (GO:0010664)3.32869842
50rRNA methylation (GO:0031167)3.29090905
51lens fiber cell development (GO:0070307)3.28063317
52histamine secretion (GO:0001821)3.23410538
53regulation of acute inflammatory response to antigenic stimulus (GO:0002864)3.22233084
54cell-cell recognition (GO:0009988)3.19817768
55regulation of cardiac muscle cell apoptotic process (GO:0010665)3.18132002
56activation of protein kinase B activity (GO:0032148)3.14499887
57regulation of circadian sleep/wake cycle, sleep (GO:0045187)3.14008734
58regulation of circadian sleep/wake cycle (GO:0042749)3.14008734
59chaperone-mediated protein transport (GO:0072321)3.10875216
60negative regulation of epidermal cell differentiation (GO:0045605)3.09150127
61mast cell activation (GO:0045576)3.09076995
62COPII vesicle coating (GO:0048208)3.04466290
63positive regulation of protein kinase C signaling (GO:0090037)3.04015423
64negative regulation of hydrogen peroxide-induced cell death (GO:1903206)3.03116681
65GTP biosynthetic process (GO:0006183)3.02985759
66mitochondrial calcium ion transport (GO:0006851)3.02687858
67mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.00379762
68potassium ion export (GO:0071435)2.92780557
69negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)2.90418267
70lymph vessel development (GO:0001945)2.90193587
71acrosome assembly (GO:0001675)2.88701166
72actin nucleation (GO:0045010)2.87234400
73positive regulation of T cell differentiation in thymus (GO:0033089)2.85605357
74negative regulation of macroautophagy (GO:0016242)2.84176883
75cilium or flagellum-dependent cell motility (GO:0001539)2.82332666
76cellular ketone body metabolic process (GO:0046950)2.79770364
77negative regulation of response to reactive oxygen species (GO:1901032)2.79041071
78regulation of mast cell degranulation (GO:0043304)2.77931570
79centriole assembly (GO:0098534)2.75808961
80regulation of hydrogen peroxide-induced cell death (GO:1903205)2.75197331
81circadian sleep/wake cycle process (GO:0022410)2.73784502
82negative regulation of transcription regulatory region DNA binding (GO:2000678)2.73337867
83Leydig cell differentiation (GO:0033327)2.70982045
84T cell receptor signaling pathway (GO:0050852)2.70227932
85positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610812.69717096
86polyamine metabolic process (GO:0006595)2.69699200
87motile cilium assembly (GO:0044458)2.66746120
88regulation of T cell tolerance induction (GO:0002664)2.64923077
89translational termination (GO:0006415)2.64467572
90positive regulation of amine transport (GO:0051954)2.64283375
91regulation of striated muscle cell apoptotic process (GO:0010662)2.63286956
92UTP biosynthetic process (GO:0006228)2.63090440
93regulation of mast cell activation involved in immune response (GO:0033006)2.62528817
94B cell mediated immunity (GO:0019724)2.61433429
95regulation of oxidative stress-induced neuron death (GO:1903203)2.59387648
96TOR signaling (GO:0031929)2.57715241
97viral transcription (GO:0019083)2.56568038
98membrane budding (GO:0006900)2.53311407
99negative regulation of reactive oxygen species metabolic process (GO:2000378)2.52447746
100negative regulation of cAMP-mediated signaling (GO:0043951)2.51433743

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human8.11001844
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse5.86964969
3TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat5.19094334
4IGF1R_20145208_ChIP-Seq_DFB_Human4.13150137
5IRF8_21731497_ChIP-ChIP_J774_Mouse3.92958720
6GATA1_22025678_ChIP-Seq_K562_Human3.72392864
7ESR1_20079471_ChIP-ChIP_T-47D_Human3.45314690
8HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.21430553
9FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.00542402
10IRF8_22096565_ChIP-ChIP_GC-B_Human2.65890593
11IRF4_20064451_ChIP-Seq_CD4+T_Mouse2.30468773
12CBP_20019798_ChIP-Seq_JUKART_Human2.30468773
13RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.20099440
14ELK1_19687146_ChIP-ChIP_HELA_Human2.03890019
15SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.02100001
16GABP_17652178_ChIP-ChIP_JURKAT_Human1.93201633
17HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.70585976
18NANOG_19829295_ChIP-Seq_ESCs_Human1.61051598
19SOX2_19829295_ChIP-Seq_ESCs_Human1.61051598
20VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.59543107
21KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.57341171
22TAF15_26573619_Chip-Seq_HEK293_Human1.55430829
23BCAT_22108803_ChIP-Seq_LS180_Human1.55288620
24AR_21909140_ChIP-Seq_LNCAP_Human1.48848143
25ER_23166858_ChIP-Seq_MCF-7_Human1.46511614
26PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.46316857
27TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.45991348
28UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.40749216
29VDR_23849224_ChIP-Seq_CD4+_Human1.37013882
30IRF1_19129219_ChIP-ChIP_H3396_Human1.34920749
31KLF5_20875108_ChIP-Seq_MESCs_Mouse1.34072487
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.32184762
33NANOG_20526341_ChIP-Seq_ESCs_Human1.29492258
34FUS_26573619_Chip-Seq_HEK293_Human1.27630001
35EST1_17652178_ChIP-ChIP_JURKAT_Human1.25781186
36RUNX_20019798_ChIP-Seq_JUKART_Human1.24678552
37P300_19829295_ChIP-Seq_ESCs_Human1.20826154
38ERG_20517297_ChIP-Seq_VCAP_Human1.20615487
39FOXH1_21741376_ChIP-Seq_EPCs_Human1.19700511
40EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.17167503
41ELF5_23300383_ChIP-Seq_T47D_Human1.17140839
42MYB_26560356_Chip-Seq_TH1_Human1.16035732
43GATA3_26560356_Chip-Seq_TH2_Human1.15662319
44AR_20517297_ChIP-Seq_VCAP_Human1.14851551
45GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.13272189
46JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.12583076
47PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.12057454
48SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.11624479
49DCP1A_22483619_ChIP-Seq_HELA_Human1.10295007
50GATA6_21074721_ChIP-Seq_CACO-2_Human1.08553286
51EWS_26573619_Chip-Seq_HEK293_Human1.08420848
52PRDM14_20953172_ChIP-Seq_ESCs_Human1.07754802
53HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.07711318
54STAT1_20625510_ChIP-Seq_HELA_Human1.06992251
55PHF8_20622853_ChIP-Seq_HELA_Human1.06728295
56PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.04650551
57PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.04376674
58AR_25329375_ChIP-Seq_VCAP_Human1.03339894
59IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.02391977
60MYB_26560356_Chip-Seq_TH2_Human1.02050331
61SPI1_20517297_ChIP-Seq_HL60_Human1.00632073
62CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.99035495
63P300_27268052_Chip-Seq_Bcells_Human0.97924640
64SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.95772748
65MYC_19829295_ChIP-Seq_ESCs_Human0.94550008
66FOXP3_21729870_ChIP-Seq_TREG_Human0.94205818
67SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.94069552
68SPI1_23547873_ChIP-Seq_NB4_Human0.93934778
69GBX2_23144817_ChIP-Seq_PC3_Human0.93339350
70EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.93102154
71STAT4_19710469_ChIP-ChIP_TH1__Mouse0.92842006
72CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.92344567
73TCF4_18268006_ChIP-ChIP_LS174T_Human0.91914856
74SMAD4_21741376_ChIP-Seq_EPCs_Human0.91157679
75GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.90935158
76CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.90529733
77RBPJ_21746931_ChIP-Seq_IB4_Human0.90278220
78MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.89168168
79SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.89086241
80OCT4_20526341_ChIP-Seq_ESCs_Human0.88758096
81CDX2_22108803_ChIP-Seq_LS180_Human0.88463842
82HNFA_21074721_ChIP-Seq_CACO-2_Human0.88420909
83VDR_22108803_ChIP-Seq_LS180_Human0.87594945
84FLI1_27457419_Chip-Seq_LIVER_Mouse0.87133841
85ETV1_20927104_ChIP-Seq_GIST48_Human0.87096408
86CBX2_22325352_ChIP-Seq_293T-Rex_Human0.87005245
87MYC_18555785_ChIP-Seq_MESCs_Mouse0.85761829
88TBL1_22424771_ChIP-Seq_293T_Human0.85407566
89CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.85240977
90TP53_22573176_ChIP-Seq_HFKS_Human0.84157884
91TFEB_21752829_ChIP-Seq_HELA_Human0.83526280
92RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.83066359
93BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.82719905
94ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.82718369
95ETS1_20019798_ChIP-Seq_JURKAT_Human0.82511609
96FOXH1_21741376_ChIP-Seq_ESCs_Human0.82158433
97TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.81959614
98OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.80744325
99POU3F2_20337985_ChIP-ChIP_501MEL_Human0.80686716
100PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.80685627

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization5.92185051
2MP0001835_abnormal_antigen_presentation4.19645969
3MP0003315_abnormal_perineum_morphology3.81913886
4MP0008004_abnormal_stomach_pH3.46718134
5MP0005671_abnormal_response_to3.28587857
6MP0003045_fibrosis3.13222382
7MP0003878_abnormal_ear_physiology3.01025678
8MP0005377_hearing/vestibular/ear_phenot3.01025678
9MP0005083_abnormal_biliary_tract2.84972581
10MP0006072_abnormal_retinal_apoptosis2.49103047
11MP0005360_urolithiasis2.47421235
12MP0001529_abnormal_vocalization2.44296533
13MP0001984_abnormal_olfaction2.43053916
14MP0001764_abnormal_homeostasis2.39940731
15MP0002009_preneoplasia2.26426129
16MP0002160_abnormal_reproductive_system2.19746389
17MP0000920_abnormal_myelination2.11913894
18MP0008877_abnormal_DNA_methylation2.05769406
19MP0006036_abnormal_mitochondrial_physio1.95306232
20MP0003806_abnormal_nucleotide_metabolis1.93316808
21MP0002090_abnormal_vision1.86215781
22MP0002166_altered_tumor_susceptibility1.83794113
23MP0002254_reproductive_system_inflammat1.75744686
24MP0004272_abnormal_basement_membrane1.72360237
25MP0001879_abnormal_lymphatic_vessel1.71525991
26MP0001929_abnormal_gametogenesis1.68636715
27MP0005253_abnormal_eye_physiology1.67242940
28MP0010368_abnormal_lymphatic_system1.63078748
29MP0002148_abnormal_hypersensitivity_rea1.50276233
30MP0003252_abnormal_bile_duct1.45640254
31MP0001986_abnormal_taste_sensitivity1.45295279
32MP0003698_abnormal_male_reproductive1.44818585
33MP0002006_tumorigenesis1.43993614
34MP0003646_muscle_fatigue1.40070654
35MP0002138_abnormal_hepatobiliary_system1.36970535
36MP0003718_maternal_effect1.36446720
37MP0000343_altered_response_to1.36325497
38MP0004381_abnormal_hair_follicle1.35350085
39MP0001905_abnormal_dopamine_level1.30191419
40MP0000465_gastrointestinal_hemorrhage1.29624367
41MP0001664_abnormal_digestion1.27392324
42MP0009764_decreased_sensitivity_to1.27137697
43MP0009697_abnormal_copulation1.26373875
44MP0002452_abnormal_antigen_presenting1.24451953
45MP0005645_abnormal_hypothalamus_physiol1.23747023
46MP0003075_altered_response_to1.22560129
47MP0005647_abnormal_sex_gland1.22441365
48MP0005058_abnormal_lysosome_morphology1.21366061
49MP0002723_abnormal_immune_serum1.15887509
50MP0000685_abnormal_immune_system1.14065180
51MP0005389_reproductive_system_phenotype1.13970071
52MP0002272_abnormal_nervous_system1.09129754
53MP0001819_abnormal_immune_cell1.07083452
54MP0005000_abnormal_immune_tolerance1.05433079
55MP0001800_abnormal_humoral_immune1.04758292
56MP0001485_abnormal_pinna_reflex1.04009123
57MP0002132_abnormal_respiratory_system0.99129274
58MP0002210_abnormal_sex_determination0.98477209
59MP0005166_decreased_susceptibility_to0.96583455
60MP0002420_abnormal_adaptive_immunity0.95706756
61MP0005165_increased_susceptibility_to0.94798487
62MP0005451_abnormal_body_composition0.94355123
63MP0005085_abnormal_gallbladder_physiolo0.94180315
64MP0000749_muscle_degeneration0.92457352
65MP0001756_abnormal_urination0.92437289
66MP0005025_abnormal_response_to0.92406356
67MP0009785_altered_susceptibility_to0.90622365
68MP0005395_other_phenotype0.86255933
69MP0002102_abnormal_ear_morphology0.85325069
70MP0000747_muscle_weakness0.84545102
71MP0000762_abnormal_tongue_morphology0.84230155
72MP0002419_abnormal_innate_immunity0.83762863
73MP0001873_stomach_inflammation0.83009024
74MP0010386_abnormal_urinary_bladder0.82798766
75MP0003763_abnormal_thymus_physiology0.82131498
76MP0002161_abnormal_fertility/fecundity0.82080107
77MP0005075_abnormal_melanosome_morpholog0.81029707
78MP0003868_abnormal_feces_composition0.79285901
79MP0001145_abnormal_male_reproductive0.77491427
80MP0005620_abnormal_muscle_contractility0.76919585
81MP0004085_abnormal_heartbeat0.75422789
82MP0000470_abnormal_stomach_morphology0.71431640
83MP0004142_abnormal_muscle_tone0.69699195
84MP0001486_abnormal_startle_reflex0.68199380
85MP0000716_abnormal_immune_system0.67013498
86MP0004510_myositis0.66213201
87MP0005376_homeostasis/metabolism_phenot0.65792899
88MP0001542_abnormal_bone_strength0.65721711
89MP0002398_abnormal_bone_marrow0.64865443
90MP0003186_abnormal_redox_activity0.62512817
91MP0000733_abnormal_muscle_development0.62391981
92MP0000653_abnormal_sex_gland0.61575776
93MP0004036_abnormal_muscle_relaxation0.61032931
94MP0005551_abnormal_eye_electrophysiolog0.60996029
95MP0002269_muscular_atrophy0.59848333
96MP0005499_abnormal_olfactory_system0.59455471
97MP0005394_taste/olfaction_phenotype0.59455471
98MP0001188_hyperpigmentation0.57088907
99MP0010155_abnormal_intestine_physiology0.55850181
100MP0005365_abnormal_bile_salt0.55065938

Predicted human phenotypes

RankGene SetZ-score
1Male infertility (HP:0003251)4.74450813
2Dynein arm defect of respiratory motile cilia (HP:0012255)4.32892029
3Absent/shortened dynein arms (HP:0200106)4.32892029
4Obstructive lung disease (HP:0006536)4.12045363
5Chronic obstructive pulmonary disease (HP:0006510)4.12045363
6Respiratory insufficiency due to defective ciliary clearance (HP:0200073)4.00601163
7Aplastic anemia (HP:0001915)3.98943965
8Reduced antithrombin III activity (HP:0001976)3.80685148
9Cerebellar dysplasia (HP:0007033)3.60266483
10Resting tremor (HP:0002322)3.59662031
11Abnormal respiratory motile cilium physiology (HP:0012261)3.53822622
12Absent rod-and cone-mediated responses on ERG (HP:0007688)3.50868334
13Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.34944689
14Decreased activity of mitochondrial respiratory chain (HP:0008972)3.34944689
15Abnormal hair whorl (HP:0010721)3.32898096
16Type II lissencephaly (HP:0007260)3.32104010
17Hypoproteinemia (HP:0003075)3.19726098
18Short hallux (HP:0010109)3.16858249
19Vitreoretinal degeneration (HP:0000655)3.13902273
20Pigmentary retinal degeneration (HP:0001146)3.05872797
21Infertility (HP:0000789)3.05763413
22Radial bowing (HP:0002986)3.03108219
23Abnormality of the lumbar spine (HP:0100712)2.86330973
24Aplasia/Hypoplasia of the hallux (HP:0008362)2.86160805
25Hemoptysis (HP:0002105)2.84915839
26Abnormal spermatogenesis (HP:0008669)2.83885246
27Abnormal ciliary motility (HP:0012262)2.82848674
28Abnormal rod and cone electroretinograms (HP:0008323)2.77049528
29Short tibia (HP:0005736)2.74604763
30Sex reversal (HP:0012245)2.74090222
31Abnormal sex determination (HP:0012244)2.74090222
32Fibular aplasia (HP:0002990)2.64643345
33Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.61692604
34Short 1st metacarpal (HP:0010034)2.61692604
35Dyschromatopsia (HP:0007641)2.59902992
36Abnormality of the phalanges of the 2nd finger (HP:0009541)2.53012270
37Abnormal auditory evoked potentials (HP:0006958)2.52254359
38Abnormality of the prostate (HP:0008775)2.50207980
39Sensory axonal neuropathy (HP:0003390)2.46598307
40Ureteral stenosis (HP:0000071)2.45444057
41Glomerulopathy (HP:0100820)2.44646197
42Lipid accumulation in hepatocytes (HP:0006561)2.44090908
43Aplasia/Hypoplasia of the tibia (HP:0005772)2.39464444
44Constricted visual fields (HP:0001133)2.39245784
45Congenital, generalized hypertrichosis (HP:0004540)2.39143694
46Mesomelia (HP:0003027)2.37718009
47Facial hemangioma (HP:0000329)2.36063523
48Abnormality of the 1st metacarpal (HP:0010009)2.35258934
49Postural instability (HP:0002172)2.32869426
50Abnormal respiratory epithelium morphology (HP:0012253)2.31810275
51Abnormal respiratory motile cilium morphology (HP:0005938)2.31810275
52Abnormality of male internal genitalia (HP:0000022)2.30524763
53Ankyloglossia (HP:0010296)2.28936118
54Abolished electroretinogram (ERG) (HP:0000550)2.22601053
55Abnormality of the pericardium (HP:0001697)2.21949498
56Retinal atrophy (HP:0001105)2.20534785
57Ureteral obstruction (HP:0006000)2.15096534
58Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.14452133
59Adactyly (HP:0009776)2.10399026
60Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.08815919
61Abnormal protein N-linked glycosylation (HP:0012347)2.08815919
62Abnormal protein glycosylation (HP:0012346)2.08815919
63Abnormal glycosylation (HP:0012345)2.08815919
64Synostosis involving the elbow (HP:0003938)2.08403397
65Humeroradial synostosis (HP:0003041)2.08403397
66Ventricular fibrillation (HP:0001663)2.08361302
67Abnormality of the pleura (HP:0002103)2.07719427
68Basal ganglia calcification (HP:0002135)2.07000877
69Chromsome breakage (HP:0040012)2.05671669
70Abnormality of homocysteine metabolism (HP:0010919)2.05226005
71Homocystinuria (HP:0002156)2.05226005
72Abnormality of aspartate family amino acid metabolism (HP:0010899)2.03906152
73Vasculitis (HP:0002633)2.03754409
74Polyneuropathy (HP:0001271)2.00465819
75Abnormality of oral frenula (HP:0000190)2.00170602
76Fibular hypoplasia (HP:0003038)1.97189144
77Hypoplasia of the ulna (HP:0003022)1.95105659
78Nephritis (HP:0000123)1.94773841
79Autoimmune thrombocytopenia (HP:0001973)1.93648872
80Deformed tarsal bones (HP:0008119)1.93316448
81Acrocyanosis (HP:0001063)1.90944034
82Rhabdomyolysis (HP:0003201)1.90381140
83Gonadal dysgenesis (HP:0000133)1.89308126
84Difficulty climbing stairs (HP:0003551)1.88454325
85Bowed forearm bones (HP:0003956)1.86183876
86Bowing of the arm (HP:0006488)1.86183876
87Capillary hemangiomas (HP:0005306)1.84595456
88Abnormality of the 2nd finger (HP:0004100)1.84144616
89Hematuria (HP:0000790)1.83703520
90Aplasia cutis congenita (HP:0001057)1.79527665
91Chronic bronchitis (HP:0004469)1.79099073
92Pancreatitis (HP:0001733)1.78368288
93Retinal dysplasia (HP:0007973)1.78100732
94Aplasia/Hypoplasia of the ulna (HP:0006495)1.77022028
95Hypoplasia of the uterus (HP:0000013)1.75181425
96Pruritus (HP:0000989)1.74852051
97Pili torti (HP:0003777)1.74828690
98Restrictive lung disease (HP:0002091)1.74774916
99Abnormality of the frontal sinuses (HP:0002687)1.74035614
100Abnormality of the proximal phalanges of the hand (HP:0009834)1.73799074

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PINK16.49285735
2SCYL25.71405197
3BMPR24.24181083
4MYLK3.52116439
5TLK13.50287687
6MARK33.00841596
7MAP3K132.93786474
8MAP3K122.79186890
9TXK2.68607028
10ZAK2.55776888
11CLK12.17743233
12ARAF2.16528198
13RPS6KA52.10655247
14NEK22.06819543
15MAP3K92.06544754
16BCKDK1.92242747
17PASK1.88552028
18NLK1.81727262
19OXSR11.72469236
20CDK191.22384184
21CDK31.15982589
22STK391.15355972
23EIF2AK31.13086987
24PRKCQ1.12271845
25MAP3K31.03327654
26TAF11.02052394
27EIF2AK10.99868407
28MOS0.98664021
29PNCK0.96537197
30CDK80.96526820
31VRK10.96041853
32MAP3K140.92898165
33IKBKB0.91248450
34ILK0.88978425
35SRPK10.87552941
36MAP3K50.87227568
37GRK60.86903957
38BRD40.84939736
39ROCK10.82369840
40BMPR1B0.80449692
41TESK10.80275831
42RIPK10.74840279
43MAPK150.72282469
44DAPK10.72219462
45JAK10.71801521
46DAPK30.71496731
47OBSCN0.71463254
48KDR0.67296786
49TAOK30.59381419
50LATS10.53135911
51MAPKAPK30.52698064
52PAK20.52334798
53STK160.52100521
54EGFR0.50618692
55MST1R0.48507725
56LYN0.48294585
57MUSK0.47724238
58BLK0.47581773
59CDK140.45896528
60STK38L0.44584467
61MELK0.44561620
62CSNK1A1L0.44357821
63NME20.43926084
64ADRBK20.43505549
65MAP2K70.43199608
66PAK10.41010933
67MAP3K100.40921209
68ROCK20.40585580
69IGF1R0.37521604
70RPS6KA40.35719370
71IRAK20.35687186
72TNIK0.35145651
73TAOK20.32748109
74AURKA0.31335859
75DYRK20.31286545
76FGR0.28698220
77CSNK2A10.27779661
78PRKG10.26166303
79PLK10.25005801
80KIT0.24131232
81CSNK2A20.23182858
82CSNK1G10.22167722
83IKBKE0.20810334
84CAMK2B0.20370918
85CSNK1G30.20036510
86BRAF0.19290344
87MET0.18890194
88TAOK10.18197405
89PRKCE0.17947189
90AURKB0.17392171
91ADRBK10.16612113
92JAK30.16571564
93BTK0.16246737
94RPS6KL10.15954249
95RPS6KC10.15954249
96AKT20.13257026
97CDC42BPA0.13076874
98CSF1R0.12810479
99TGFBR10.12264212
100LCK0.11879611

Predicted pathways (KEGG)

RankGene SetZ-score
1Asthma_Homo sapiens_hsa053105.36716034
2Allograft rejection_Homo sapiens_hsa053304.30551338
3Graft-versus-host disease_Homo sapiens_hsa053324.19895775
4Autoimmune thyroid disease_Homo sapiens_hsa053204.04850096
5Intestinal immune network for IgA production_Homo sapiens_hsa046723.85766375
6Type I diabetes mellitus_Homo sapiens_hsa049403.46583254
7Pathogenic Escherichia coli infection_Homo sapiens_hsa051303.21335491
8Viral myocarditis_Homo sapiens_hsa054162.72909550
9Systemic lupus erythematosus_Homo sapiens_hsa053222.53302517
10Rheumatoid arthritis_Homo sapiens_hsa053232.44721052
11Phagosome_Homo sapiens_hsa041452.36263981
12Antigen processing and presentation_Homo sapiens_hsa046122.24174692
13Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.15803512
14Ribosome_Homo sapiens_hsa030102.13848292
15Staphylococcus aureus infection_Homo sapiens_hsa051502.11164729
16Nitrogen metabolism_Homo sapiens_hsa009101.62007958
17Leishmaniasis_Homo sapiens_hsa051401.60885561
18Oxidative phosphorylation_Homo sapiens_hsa001901.46436425
19Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.39883571
20Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.34292928
21Proteasome_Homo sapiens_hsa030501.33898623
22Gap junction_Homo sapiens_hsa045401.32559899
23Olfactory transduction_Homo sapiens_hsa047401.30587818
24SNARE interactions in vesicular transport_Homo sapiens_hsa041301.23294576
25Protein export_Homo sapiens_hsa030601.21407739
26Malaria_Homo sapiens_hsa051441.14382562
27Basal transcription factors_Homo sapiens_hsa030221.12555138
28Cysteine and methionine metabolism_Homo sapiens_hsa002701.10246931
29RNA polymerase_Homo sapiens_hsa030201.08393647
30Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.07636752
31Parkinsons disease_Homo sapiens_hsa050121.05560155
32Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.03976244
33Herpes simplex infection_Homo sapiens_hsa051681.01087887
34Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.00786569
35Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.96983013
36Collecting duct acid secretion_Homo sapiens_hsa049660.96153871
37Regulation of autophagy_Homo sapiens_hsa041400.95558255
38Tuberculosis_Homo sapiens_hsa051520.92755144
39RNA degradation_Homo sapiens_hsa030180.81689963
40alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.81424816
41Apoptosis_Homo sapiens_hsa042100.79682044
42Huntingtons disease_Homo sapiens_hsa050160.77129212
43Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.76757212
44Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.76457765
45Toxoplasmosis_Homo sapiens_hsa051450.73055217
46Alcoholism_Homo sapiens_hsa050340.71455600
47Influenza A_Homo sapiens_hsa051640.66113449
48Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.64442013
49Propanoate metabolism_Homo sapiens_hsa006400.61971949
50Cardiac muscle contraction_Homo sapiens_hsa042600.61585079
51Hematopoietic cell lineage_Homo sapiens_hsa046400.60261345
52Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.57797551
53Alzheimers disease_Homo sapiens_hsa050100.57590374
54Purine metabolism_Homo sapiens_hsa002300.55544019
55Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.55170158
56Steroid hormone biosynthesis_Homo sapiens_hsa001400.53988230
57Hedgehog signaling pathway_Homo sapiens_hsa043400.53692001
58Oocyte meiosis_Homo sapiens_hsa041140.48656523
59Phototransduction_Homo sapiens_hsa047440.44786679
60Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.44209472
61RNA transport_Homo sapiens_hsa030130.43668191
62Vibrio cholerae infection_Homo sapiens_hsa051100.42504476
63Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.41593752
64Thyroid cancer_Homo sapiens_hsa052160.40682415
65NF-kappa B signaling pathway_Homo sapiens_hsa040640.40294278
66African trypanosomiasis_Homo sapiens_hsa051430.40056393
67Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.39346515
68Transcriptional misregulation in cancer_Homo sapiens_hsa052020.36241632
69Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.35053797
70Primary immunodeficiency_Homo sapiens_hsa053400.34042669
71Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.33917971
72cGMP-PKG signaling pathway_Homo sapiens_hsa040220.33761664
73Pyrimidine metabolism_Homo sapiens_hsa002400.32478801
74Spliceosome_Homo sapiens_hsa030400.31019127
75Vascular smooth muscle contraction_Homo sapiens_hsa042700.30447030
76Butanoate metabolism_Homo sapiens_hsa006500.29869258
77Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.27534527
78Salmonella infection_Homo sapiens_hsa051320.25884242
79Legionellosis_Homo sapiens_hsa051340.25663761
80PPAR signaling pathway_Homo sapiens_hsa033200.25640203
81HTLV-I infection_Homo sapiens_hsa051660.22602732
82Shigellosis_Homo sapiens_hsa051310.21981525
83Retinol metabolism_Homo sapiens_hsa008300.21819243
84Fatty acid biosynthesis_Homo sapiens_hsa000610.21513537
85Pyruvate metabolism_Homo sapiens_hsa006200.21477062
86TGF-beta signaling pathway_Homo sapiens_hsa043500.21372779
87Nucleotide excision repair_Homo sapiens_hsa034200.20532579
88Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.19971477
89Epstein-Barr virus infection_Homo sapiens_hsa051690.19625581
90Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.16763184
91Metabolic pathways_Homo sapiens_hsa011000.15818955
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.15780987
93NOD-like receptor signaling pathway_Homo sapiens_hsa046210.15482906
94Glutathione metabolism_Homo sapiens_hsa004800.14896456
95Salivary secretion_Homo sapiens_hsa049700.14597806
96Ether lipid metabolism_Homo sapiens_hsa005650.14422386
97ECM-receptor interaction_Homo sapiens_hsa045120.13764261
98Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.13284518
99Pertussis_Homo sapiens_hsa051330.11982383
100Selenocompound metabolism_Homo sapiens_hsa004500.11967342

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