PFN1P11

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
1cell wall macromolecule catabolic process (GO:0016998)8.54629670
2cell wall macromolecule metabolic process (GO:0044036)7.17604542
3DNA deamination (GO:0045006)6.71337011
4regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450916.14995843
5pyrimidine ribonucleoside catabolic process (GO:0046133)5.76635712
6protein maturation by protein folding (GO:0022417)5.58493382
7cytidine metabolic process (GO:0046087)5.56021547
8cytidine catabolic process (GO:0006216)5.56021547
9cytidine deamination (GO:0009972)5.56021547
10establishment of viral latency (GO:0019043)5.24574221
11positive regulation of actin filament depolymerization (GO:0030836)4.98219042
12proteasome assembly (GO:0043248)4.73566227
13extracellular fibril organization (GO:0043206)4.35769427
14GDP-mannose metabolic process (GO:0019673)4.34007707
15negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.26454881
16regulation of cilium movement (GO:0003352)4.19562328
17negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)4.15523107
18mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.13630419
19protein deneddylation (GO:0000338)4.11963855
20regulation of cellular amino acid metabolic process (GO:0006521)4.03166245
21detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)4.02247155
22glomerular visceral epithelial cell development (GO:0072015)3.96953207
23pyrimidine nucleoside catabolic process (GO:0046135)3.89855817
24negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.84602185
25detection of chemical stimulus involved in sensory perception of taste (GO:0050912)3.81554372
26myelin assembly (GO:0032288)3.80076603
27response to interferon-beta (GO:0035456)3.80028044
28nuclear envelope reassembly (GO:0031468)3.79671270
29mitotic nuclear envelope reassembly (GO:0007084)3.79671270
30fibril organization (GO:0097435)3.78909562
31DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.75246001
32mannosylation (GO:0097502)3.73896828
33fibroblast migration (GO:0010761)3.69192963
34establishment of integrated proviral latency (GO:0075713)3.68743139
35energy coupled proton transport, down electrochemical gradient (GO:0015985)3.64035572
36ATP synthesis coupled proton transport (GO:0015986)3.64035572
37intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.62524528
38signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.62524528
39signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.61369496
40signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.61369496
41signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.61369496
42establishment of protein localization to mitochondrial membrane (GO:0090151)3.61361923
43ribosome assembly (GO:0042255)3.58926098
44actin filament depolymerization (GO:0030042)3.53666477
45signal transduction involved in DNA integrity checkpoint (GO:0072401)3.53103386
46signal transduction involved in DNA damage checkpoint (GO:0072422)3.53103386
47signal transduction involved in cell cycle checkpoint (GO:0072395)3.45178908
48glomerular epithelial cell development (GO:0072310)3.45172685
49positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.45157427
50antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.44737469
51response to gravity (GO:0009629)3.44461331
52negative regulation of calcium ion transport into cytosol (GO:0010523)3.43976373
53positive regulation of macrophage activation (GO:0043032)3.40755739
54branched-chain amino acid catabolic process (GO:0009083)3.36776743
55negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.33116849
56negative regulation of ligase activity (GO:0051352)3.33116849
57positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.30375042
58chaperone mediated protein folding requiring cofactor (GO:0051085)3.30181171
59regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.27037159
60sequestering of actin monomers (GO:0042989)3.25437397
61organelle membrane fusion (GO:0090174)3.25376681
62cullin deneddylation (GO:0010388)3.23224695
63retina homeostasis (GO:0001895)3.20099085
64chaperone-mediated protein transport (GO:0072321)3.18640470
65antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.16753399
66protein peptidyl-prolyl isomerization (GO:0000413)3.16525517
67positive regulation of monocyte chemotaxis (GO:0090026)3.08062810
68xenobiotic catabolic process (GO:0042178)3.05200250
69protein complex biogenesis (GO:0070271)3.03457047
70anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.00289272
71negative regulation of viral genome replication (GO:0045071)3.00030950
72negative regulation of T cell apoptotic process (GO:0070233)2.97972517
73negative regulation of JAK-STAT cascade (GO:0046426)2.96245230
74regulation of metalloenzyme activity (GO:0048552)2.96156944
75dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.94532230
76antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)2.93604919
77DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.90481789
78GMP metabolic process (GO:0046037)2.90355738
79type B pancreatic cell proliferation (GO:0044342)2.87421835
80positive regulation of interleukin-8 secretion (GO:2000484)2.85406025
81Arp2/3 complex-mediated actin nucleation (GO:0034314)2.81625086
82rRNA modification (GO:0000154)2.81073803
83cytolysis (GO:0019835)2.80394023
84auditory receptor cell differentiation (GO:0042491)2.80278037
85mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.80122838
86mitochondrial respiratory chain complex I assembly (GO:0032981)2.80122838
87NADH dehydrogenase complex assembly (GO:0010257)2.80122838
88positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.80051566
89regulation of cellular amine metabolic process (GO:0033238)2.78889425
90C-terminal protein lipidation (GO:0006501)2.75845558
91respiratory electron transport chain (GO:0022904)2.75845157
92positive regulation of cell cycle arrest (GO:0071158)2.75128669
93mitochondrial respiratory chain complex assembly (GO:0033108)2.74845409
94metallo-sulfur cluster assembly (GO:0031163)2.74030566
95iron-sulfur cluster assembly (GO:0016226)2.74030566
96electron transport chain (GO:0022900)2.72767430
97negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)2.70594255
98protein heterotetramerization (GO:0051290)2.67984957
99negative regulation of lymphocyte apoptotic process (GO:0070229)2.66284263
100deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.63039907

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1NOTCH1_17114293_ChIP-ChIP_T-ALL_Human5.21012785
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.74739657
3GABP_17652178_ChIP-ChIP_JURKAT_Human3.68640150
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.63737572
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.54431490
6ELF1_17652178_ChIP-ChIP_JURKAT_Human3.20316510
7CREB1_15753290_ChIP-ChIP_HEK293T_Human3.02594645
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.00436059
9ETS1_20019798_ChIP-Seq_JURKAT_Human2.99321785
10SRF_21415370_ChIP-Seq_HL-1_Mouse2.91873621
11CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.82940157
12SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.59576575
13HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.53346865
14MYC_18358816_ChIP-ChIP_MESCs_Mouse2.49587680
15VDR_23849224_ChIP-Seq_CD4+_Human2.46555533
16PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.36791370
17ATF3_23680149_ChIP-Seq_GBM1-GSC_Human2.36081141
18TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.26721248
19EGR1_23403033_ChIP-Seq_LIVER_Mouse2.24568377
20DMRT1_21621532_ChIP-ChIP_FETAL_Ovary2.14824890
21TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.07737368
22E2F1_18555785_ChIP-Seq_MESCs_Mouse2.04152132
23ELK1_19687146_ChIP-ChIP_HELA_Human2.02897277
24HOXB4_20404135_ChIP-ChIP_EML_Mouse2.01941294
25FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.00474651
26MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.98390098
27CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.90139214
28HIF1A_21447827_ChIP-Seq_MCF-7_Human1.84732082
29NELFA_20434984_ChIP-Seq_ESCs_Mouse1.81514402
30GABP_19822575_ChIP-Seq_HepG2_Human1.79395440
31IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.78439311
32IRF8_22096565_ChIP-ChIP_GC-B_Human1.78306441
33CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.74311817
34MYC_19030024_ChIP-ChIP_MESCs_Mouse1.69906334
35RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.69576885
36FOXP3_21729870_ChIP-Seq_TREG_Human1.69056452
37FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.68491538
38CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.65659336
39THAP11_20581084_ChIP-Seq_MESCs_Mouse1.62549715
40POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.61891191
41SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.61636923
42POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.57092102
43HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.55704319
44VDR_22108803_ChIP-Seq_LS180_Human1.55126053
45CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.54764020
46BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.54442137
47HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.51983840
48SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.50420468
49PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.48195544
50DCP1A_22483619_ChIP-Seq_HELA_Human1.45480260
51CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.43815526
52YY1_21170310_ChIP-Seq_MESCs_Mouse1.43701654
53MYC_18555785_ChIP-Seq_MESCs_Mouse1.42697505
54ELK1_22589737_ChIP-Seq_MCF10A_Human1.42460755
55CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.41370283
56STAT4_19710469_ChIP-ChIP_TH1__Mouse1.40527644
57TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.39199170
58DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.36507094
59BP1_19119308_ChIP-ChIP_Hs578T_Human1.30920937
60ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.27400940
61BCL6_27268052_Chip-Seq_Bcells_Human1.24318253
62XRN2_22483619_ChIP-Seq_HELA_Human1.24109356
63CSB_26484114_Chip-Seq_FIBROBLAST_Human1.18474207
64ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.17957309
65RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.16470240
66JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.16111420
67HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.15587703
68EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.15093609
69FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.14520435
70MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.13455535
71E2F7_22180533_ChIP-Seq_HELA_Human1.13311039
72JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.08744986
73FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.07797846
74KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.06878654
75SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.06757118
76ZNF274_21170338_ChIP-Seq_K562_Hela1.06056462
77CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.02024573
78ERG_20887958_ChIP-Seq_HPC-7_Mouse1.01705348
79NANOG_18555785_ChIP-Seq_MESCs_Mouse0.99146702
80BCOR_27268052_Chip-Seq_Bcells_Human0.98985947
81MYC_19079543_ChIP-ChIP_MESCs_Mouse0.98856264
82ERG_20517297_ChIP-Seq_VCAP_Human0.98667025
83TRIM28_21343339_ChIP-Seq_HEK293_Human0.98059228
84IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.96459447
85CTCF_18555785_ChIP-Seq_MESCs_Mouse0.95404285
86LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.94439505
87MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.93104513
88E2F4_17652178_ChIP-ChIP_JURKAT_Human0.91410924
89PADI4_21655091_ChIP-ChIP_MCF-7_Human0.90332910
90SPI1_20517297_ChIP-Seq_HL60_Human0.89987153
91P300_27268052_Chip-Seq_Bcells_Human0.89363801
92CTCF_20526341_ChIP-Seq_ESCs_Human0.88044541
93TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.88001252
94SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.87877014
95AR_20517297_ChIP-Seq_VCAP_Human0.87088283
96STAT1_20625510_ChIP-Seq_HELA_Human0.86545709
97TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.86219382
98RARG_19884340_ChIP-ChIP_MEFs_Mouse0.85527343
99SOX17_20123909_ChIP-Seq_XEN_Mouse0.85234687
100E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.85086050

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010030_abnormal_orbit_morphology4.07894907
2MP0005360_urolithiasis3.30781740
3MP0008260_abnormal_autophagy3.27213531
4MP0005257_abnormal_intraocular_pressure3.06649009
5MP0008789_abnormal_olfactory_epithelium2.75958173
6MP0001542_abnormal_bone_strength2.61892679
7MP0010368_abnormal_lymphatic_system2.52761903
8MP0008875_abnormal_xenobiotic_pharmacok2.51041471
9MP0003191_abnormal_cellular_cholesterol2.45591498
10MP0003806_abnormal_nucleotide_metabolis2.39329066
11MP0002166_altered_tumor_susceptibility2.36304218
12MP0009333_abnormal_splenocyte_physiolog2.33674510
13MP0005671_abnormal_response_to2.21315127
14MP0002138_abnormal_hepatobiliary_system2.19022613
15MP0002006_tumorigenesis2.15222008
16MP0003123_paternal_imprinting2.00380837
17MP0004147_increased_porphyrin_level1.98490157
18MP0004272_abnormal_basement_membrane1.89808686
19MP0008775_abnormal_heart_ventricle1.89753407
20MP0009785_altered_susceptibility_to1.77740667
21MP0002876_abnormal_thyroid_physiology1.76664159
22MP0005058_abnormal_lysosome_morphology1.72995271
23MP0003950_abnormal_plasma_membrane1.71093955
24MP0009697_abnormal_copulation1.54989365
25MP0000750_abnormal_muscle_regeneration1.52922039
26MP0005165_increased_susceptibility_to1.51195006
27MP0009764_decreased_sensitivity_to1.50284797
28MP0001984_abnormal_olfaction1.46994541
29MP0006035_abnormal_mitochondrial_morpho1.44307016
30MP0003075_altered_response_to1.42099417
31MP0005332_abnormal_amino_acid1.35534109
32MP0004510_myositis1.34837615
33MP0005464_abnormal_platelet_physiology1.34062033
34MP0000858_altered_metastatic_potential1.31792857
35MP0006036_abnormal_mitochondrial_physio1.30519507
36MP0005365_abnormal_bile_salt1.30496664
37MP0003436_decreased_susceptibility_to1.30158442
38MP0006082_CNS_inflammation1.28091710
39MP0005551_abnormal_eye_electrophysiolog1.27631088
40MP0003638_abnormal_response/metabolism_1.27414518
41MP0001905_abnormal_dopamine_level1.26804359
42MP0005394_taste/olfaction_phenotype1.24884475
43MP0005499_abnormal_olfactory_system1.24884475
44MP0003011_delayed_dark_adaptation1.21835097
45MP0003195_calcinosis1.21517358
46MP0003786_premature_aging1.20034640
47MP0005085_abnormal_gallbladder_physiolo1.18730487
48MP0002148_abnormal_hypersensitivity_rea1.18681958
49MP0002332_abnormal_exercise_endurance1.18455925
50MP0001485_abnormal_pinna_reflex1.17805200
51MP0003718_maternal_effect1.13707935
52MP0000749_muscle_degeneration1.13459906
53MP0002277_abnormal_respiratory_mucosa1.13071214
54MP0000751_myopathy1.10800547
55MP0002282_abnormal_trachea_morphology1.08983760
56MP0009780_abnormal_chondrocyte_physiolo1.05991153
57MP0000358_abnormal_cell_content/1.05572595
58MP0005330_cardiomyopathy1.05200448
59MP0005319_abnormal_enzyme/_coenzyme1.04429327
60MP0003448_altered_tumor_morphology1.03256093
61MP0001879_abnormal_lymphatic_vessel1.02526368
62MP0005166_decreased_susceptibility_to1.02111961
63MP0001835_abnormal_antigen_presentation1.00261660
64MP0008872_abnormal_physiological_respon0.99147281
65MP0005395_other_phenotype0.99117832
66MP0005410_abnormal_fertilization0.97537768
67MP0002972_abnormal_cardiac_muscle0.97334820
68MP0008469_abnormal_protein_level0.96848609
69MP0000343_altered_response_to0.92498538
70MP0005584_abnormal_enzyme/coenzyme_acti0.92287971
71MP0005000_abnormal_immune_tolerance0.91697083
72MP0003186_abnormal_redox_activity0.91047994
73MP0003763_abnormal_thymus_physiology0.90549250
74MP0001533_abnormal_skeleton_physiology0.90084620
75MP0006072_abnormal_retinal_apoptosis0.89849477
76MP0003567_abnormal_fetal_cardiomyocyte0.85426735
77MP0001727_abnormal_embryo_implantation0.85268012
78MP0009763_increased_sensitivity_to0.85200353
79MP0004742_abnormal_vestibular_system0.85025136
80MP0002723_abnormal_immune_serum0.84440596
81MP0008873_increased_physiological_sensi0.82110357
82MP0002420_abnormal_adaptive_immunity0.81724058
83MP0002019_abnormal_tumor_incidence0.81384494
84MP0003693_abnormal_embryo_hatching0.81137733
85MP0005451_abnormal_body_composition0.78587787
86MP0001819_abnormal_immune_cell0.77904716
87MP0001529_abnormal_vocalization0.77070417
88MP0002168_other_aberrant_phenotype0.75911164
89MP0010234_abnormal_vibrissa_follicle0.75875312
90MP0005025_abnormal_response_to0.75837195
91MP0001845_abnormal_inflammatory_respons0.74918969
92MP0005636_abnormal_mineral_homeostasis0.74275479
93MP0000703_abnormal_thymus_morphology0.73438666
94MP0000639_abnormal_adrenal_gland0.73247794
95MP0004145_abnormal_muscle_electrophysio0.73097669
96MP0001756_abnormal_urination0.72792964
97MP0002106_abnormal_muscle_physiology0.72624570
98MP0002722_abnormal_immune_system0.71782961
99MP0002736_abnormal_nociception_after0.70665037
100MP0000689_abnormal_spleen_morphology0.68100891

Predicted human phenotypes

RankGene SetZ-score
1Reduced subcutaneous adipose tissue (HP:0003758)4.44394115
2Hepatocellular necrosis (HP:0001404)4.38721301
3Cholecystitis (HP:0001082)4.38573660
4Abnormal gallbladder physiology (HP:0012438)4.38573660
5Reduced antithrombin III activity (HP:0001976)4.12505447
6Exercise-induced muscle cramps (HP:0003710)4.10156547
7Hypokinesia (HP:0002375)4.03026172
8Mitochondrial inheritance (HP:0001427)3.97459480
9Glucose intolerance (HP:0000833)3.97201592
10Type I transferrin isoform profile (HP:0003642)3.85643904
11Aplastic anemia (HP:0001915)3.75808817
12Elevated erythrocyte sedimentation rate (HP:0003565)3.66429377
13Hepatic necrosis (HP:0002605)3.65940849
14Adrenal hypoplasia (HP:0000835)3.41989945
15Short tibia (HP:0005736)3.38670048
16Acute necrotizing encephalopathy (HP:0006965)3.34964893
17Increased CSF lactate (HP:0002490)3.32319115
18Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.16260622
19Renal Fanconi syndrome (HP:0001994)3.13048021
20Abnormal mitochondria in muscle tissue (HP:0008316)3.11570056
21Cerebral edema (HP:0002181)3.09850121
22Aplasia/Hypoplasia of the tibia (HP:0005772)3.09141573
23Abnormal protein glycosylation (HP:0012346)3.03709956
24Abnormal glycosylation (HP:0012345)3.03709956
25Abnormal isoelectric focusing of serum transferrin (HP:0003160)3.03709956
26Abnormal protein N-linked glycosylation (HP:0012347)3.03709956
27Increased serum lactate (HP:0002151)2.95343019
28Nemaline bodies (HP:0003798)2.90027997
29Decreased subcutaneous fat (HP:0001002)2.85133731
30Increased serum pyruvate (HP:0003542)2.84608541
31Acute encephalopathy (HP:0006846)2.79615887
32Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.77532121
33Exercise intolerance (HP:0003546)2.77231513
34Increased hepatocellular lipid droplets (HP:0006565)2.76321618
35Delayed CNS myelination (HP:0002188)2.72944828
36Lactic acidosis (HP:0003128)2.71600109
37Tetraplegia (HP:0002445)2.71510751
38Progressive macrocephaly (HP:0004481)2.64428862
39Retinal dysplasia (HP:0007973)2.64014101
40Decreased activity of mitochondrial respiratory chain (HP:0008972)2.56651753
41Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.56651753
42Amyloidosis (HP:0011034)2.39111503
43Abnormal glucose tolerance (HP:0001952)2.38595272
44Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.36471114
45EMG: myopathic abnormalities (HP:0003458)2.32080452
46Synostosis involving the elbow (HP:0003938)2.31249996
47Humeroradial synostosis (HP:0003041)2.31249996
48Progressive muscle weakness (HP:0003323)2.31085731
49Lipid accumulation in hepatocytes (HP:0006561)2.30815099
50Respiratory failure (HP:0002878)2.26428028
51Abnormality of glycolysis (HP:0004366)2.25380101
52Increased intramyocellular lipid droplets (HP:0012240)2.24219533
53Exertional dyspnea (HP:0002875)2.23105888
54Microglossia (HP:0000171)2.22361241
55CNS demyelination (HP:0007305)2.21882365
56Delayed gross motor development (HP:0002194)2.21674421
57Opisthotonus (HP:0002179)2.19780341
58Rough bone trabeculation (HP:0100670)2.19587921
59Generalized amyotrophy (HP:0003700)2.19004527
60Muscle fiber inclusion bodies (HP:0100299)2.14309648
61Ketosis (HP:0001946)2.10260834
62Microretrognathia (HP:0000308)2.09759077
63Emotional lability (HP:0000712)2.07694025
64Median cleft lip (HP:0000161)2.06230254
65Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.05581796
66Abnormality of alanine metabolism (HP:0010916)2.05581796
67Hyperalaninemia (HP:0003348)2.05581796
68Pancytopenia (HP:0001876)2.04430055
69Abnormality of renal resorption (HP:0011038)2.01099006
70X-linked dominant inheritance (HP:0001423)1.99427039
71Large eyes (HP:0001090)1.97208032
72Large for gestational age (HP:0001520)1.95801146
73Hypoproteinemia (HP:0003075)1.93270056
74Increased IgM level (HP:0003496)1.91925752
75Molar tooth sign on MRI (HP:0002419)1.91860406
76Abnormality of midbrain morphology (HP:0002418)1.91860406
77Prolonged neonatal jaundice (HP:0006579)1.91600399
78Diminished movement (HP:0002374)1.89865382
79Hypoplastic pelvis (HP:0008839)1.88974177
80Optic disc pallor (HP:0000543)1.88739089
81Lethargy (HP:0001254)1.88383508
82Clubbing of toes (HP:0100760)1.87904290
83Muscle fiber atrophy (HP:0100295)1.85074269
84Type II lissencephaly (HP:0007260)1.82501512
85Increased muscle lipid content (HP:0009058)1.82148636
86Joint hemorrhage (HP:0005261)1.80858866
87Abnormality of the preputium (HP:0100587)1.80785166
88Pancreatitis (HP:0001733)1.80343220
89Abnormality of the ileum (HP:0001549)1.78517817
90Pustule (HP:0200039)1.77667952
91Entropion (HP:0000621)1.75820151
92Abnormal trabecular bone morphology (HP:0100671)1.75788872
93Erythema (HP:0010783)1.74389500
94IgG deficiency (HP:0004315)1.73619535
95Type 2 muscle fiber atrophy (HP:0003554)1.73037675
96Metabolic acidosis (HP:0001942)1.72509556
97Pancreatic cysts (HP:0001737)1.72486348
98Vascular calcification (HP:0004934)1.71974034
99Congenital, generalized hypertrichosis (HP:0004540)1.70964463
100Decreased electroretinogram (ERG) amplitude (HP:0000654)1.70917791

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK24.88236396
2BCKDK4.87145766
3TESK24.75374490
4LIMK14.65367756
5ARAF4.59475575
6TESK14.02577574
7NME23.43597315
8KDR3.21134896
9MAP3K132.91533854
10EIF2AK32.19974375
11MOS1.90730917
12MAP3K91.86820060
13EPHA21.80677755
14MST41.74437994
15TIE11.71104224
16LMTK21.68806943
17DAPK11.64391097
18EPHA41.60752184
19MAPKAPK31.57611784
20BUB11.44406490
21VRK11.43847162
22PIM21.39458640
23NUAK11.37441753
24ZAK1.33487777
25SCYL21.32848488
26CSNK1G31.26658738
27PHKG21.19081924
28PHKG11.19081924
29GRK61.13229810
30CSNK1A1L1.06534449
31BRSK21.02773145
32BRAF1.00835396
33ILK0.97348367
34TAOK20.95080508
35BRSK10.95056829
36RIPK10.93873931
37CSNK1G20.87166933
38RAF10.85129130
39CSNK1G10.85036985
40MUSK0.84041971
41MYLK0.82541232
42MAP3K120.82482921
43TAF10.79021018
44TLK10.77701505
45STK160.76998561
46MAP4K20.76604781
47ABL20.73573548
48EIF2AK20.68623056
49NEK10.67906069
50PTK2B0.67676029
51GRK50.65345912
52PAK10.64385060
53MAP2K70.64373046
54SRPK10.61002652
55PAK40.59844411
56STK100.59578766
57MST1R0.57475528
58GRK10.57351835
59DAPK30.56803892
60CDK80.55653915
61TBK10.53159648
62WEE10.49735052
63PLK20.49554934
64MAP3K10.49112572
65AURKA0.47336746
66GRK70.46376157
67PRKCQ0.46101353
68PBK0.43488389
69ADRBK20.41879450
70MAP3K30.39600464
71INSRR0.38947557
72CCNB10.38351899
73IKBKB0.35324691
74HIPK20.34722510
75TEC0.32094632
76PRKCE0.30198835
77CAMK2G0.29948175
78MAPKAPK20.29866523
79CSNK2A20.28561099
80CDK140.27756896
81SMG10.26985589
82PRKCI0.26596713
83CDK70.26309375
84EPHB20.26112785
85RPS6KA50.25777708
86CSNK1A10.25057250
87AURKB0.24870393
88PDK20.22425759
89PLK30.21153944
90KSR20.20856896
91TGFBR20.20672057
92CDK150.20648345
93LRRK20.20401771
94PLK10.20286232
95CDK11A0.20030966
96ADRBK10.19959223
97TAOK30.19355277
98CDK180.17999142
99ERBB40.17621905
100WNK30.16334445

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030505.55380002
2Oxidative phosphorylation_Homo sapiens_hsa001903.34316557
3Parkinsons disease_Homo sapiens_hsa050122.97506653
4Primary bile acid biosynthesis_Homo sapiens_hsa001202.79964284
5Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.57540681
6RNA polymerase_Homo sapiens_hsa030202.57330441
7Huntingtons disease_Homo sapiens_hsa050162.37726865
8Alzheimers disease_Homo sapiens_hsa050102.13110336
9Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.12185670
10Sulfur metabolism_Homo sapiens_hsa009202.09099319
11Pyrimidine metabolism_Homo sapiens_hsa002401.91390408
12Glutathione metabolism_Homo sapiens_hsa004801.90084277
13Drug metabolism - other enzymes_Homo sapiens_hsa009831.82900319
14Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.78310423
15DNA replication_Homo sapiens_hsa030301.78024459
16Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.77243666
17Ribosome_Homo sapiens_hsa030101.72370358
18Chemical carcinogenesis_Homo sapiens_hsa052041.69873355
19Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.69637499
20Homologous recombination_Homo sapiens_hsa034401.65197776
21Nucleotide excision repair_Homo sapiens_hsa034201.64787361
22Folate biosynthesis_Homo sapiens_hsa007901.63179377
23Fatty acid elongation_Homo sapiens_hsa000621.59671710
24Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.59481593
25Sulfur relay system_Homo sapiens_hsa041221.56856552
26Propanoate metabolism_Homo sapiens_hsa006401.56553255
27Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.43691308
28Primary immunodeficiency_Homo sapiens_hsa053401.38759272
29Steroid hormone biosynthesis_Homo sapiens_hsa001401.35100071
30Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.34112200
31Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.33399704
32Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.33164657
33Fructose and mannose metabolism_Homo sapiens_hsa000511.32412287
34SNARE interactions in vesicular transport_Homo sapiens_hsa041301.28449250
35Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.27572815
36Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.20915855
37Cardiac muscle contraction_Homo sapiens_hsa042601.20316383
38Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.19940079
39Pyruvate metabolism_Homo sapiens_hsa006201.16447957
40Protein export_Homo sapiens_hsa030601.16076907
41Base excision repair_Homo sapiens_hsa034101.15999854
422-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.15325486
43N-Glycan biosynthesis_Homo sapiens_hsa005101.14020629
44Mismatch repair_Homo sapiens_hsa034301.12428682
45Purine metabolism_Homo sapiens_hsa002301.10976291
46Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.04996842
47Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.03813915
48Peroxisome_Homo sapiens_hsa041461.01810245
49Regulation of autophagy_Homo sapiens_hsa041401.01518840
50Retinol metabolism_Homo sapiens_hsa008300.99129508
51Antigen processing and presentation_Homo sapiens_hsa046120.98214908
52Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.98143813
53Shigellosis_Homo sapiens_hsa051310.97413396
54Pentose and glucuronate interconversions_Homo sapiens_hsa000400.96581949
55Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.95968112
56Pentose phosphate pathway_Homo sapiens_hsa000300.92017195
57Biosynthesis of amino acids_Homo sapiens_hsa012300.89857769
58Carbon metabolism_Homo sapiens_hsa012000.89356427
59Basal transcription factors_Homo sapiens_hsa030220.89321574
60Fanconi anemia pathway_Homo sapiens_hsa034600.85800356
61Salivary secretion_Homo sapiens_hsa049700.84573288
62Other glycan degradation_Homo sapiens_hsa005110.84058658
63Tryptophan metabolism_Homo sapiens_hsa003800.83259792
64Selenocompound metabolism_Homo sapiens_hsa004500.78785501
65Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.77323092
66Metabolic pathways_Homo sapiens_hsa011000.75271639
67Lysosome_Homo sapiens_hsa041420.73831281
68Arachidonic acid metabolism_Homo sapiens_hsa005900.71462717
69Cysteine and methionine metabolism_Homo sapiens_hsa002700.68381346
70Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.65873146
71Vibrio cholerae infection_Homo sapiens_hsa051100.61599976
72Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.53200634
73Allograft rejection_Homo sapiens_hsa053300.53133128
74Caffeine metabolism_Homo sapiens_hsa002320.52899522
75Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.52072726
76Galactose metabolism_Homo sapiens_hsa000520.50163461
77Graft-versus-host disease_Homo sapiens_hsa053320.49990444
78Autoimmune thyroid disease_Homo sapiens_hsa053200.49886461
79Steroid biosynthesis_Homo sapiens_hsa001000.48026975
80Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.47609609
81Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.42013361
82Glycosaminoglycan degradation_Homo sapiens_hsa005310.41475351
83RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.40732804
84Spliceosome_Homo sapiens_hsa030400.40568225
85Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.39934413
86Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.36875041
87Complement and coagulation cascades_Homo sapiens_hsa046100.36531940
88Viral myocarditis_Homo sapiens_hsa054160.33993839
89Regulation of actin cytoskeleton_Homo sapiens_hsa048100.30988727
90Tyrosine metabolism_Homo sapiens_hsa003500.29373324
91RNA degradation_Homo sapiens_hsa030180.29033155
92RNA transport_Homo sapiens_hsa030130.28279224
93Type I diabetes mellitus_Homo sapiens_hsa049400.28272220
94Phagosome_Homo sapiens_hsa041450.28258978
95Starch and sucrose metabolism_Homo sapiens_hsa005000.28053366
96Nitrogen metabolism_Homo sapiens_hsa009100.26123121
97p53 signaling pathway_Homo sapiens_hsa041150.24201855
98Epstein-Barr virus infection_Homo sapiens_hsa051690.23874966
99Hematopoietic cell lineage_Homo sapiens_hsa046400.23398748
100Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.19160546

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