PFN1P10

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
1protein maturation by protein folding (GO:0022417)6.73109409
2establishment of viral latency (GO:0019043)5.73829411
3extracellular fibril organization (GO:0043206)5.65473084
4response to gravity (GO:0009629)5.34665815
5galactose catabolic process (GO:0019388)5.19905690
6establishment of integrated proviral latency (GO:0075713)5.00005831
7mitotic nuclear envelope reassembly (GO:0007084)4.82704399
8nuclear envelope reassembly (GO:0031468)4.82704399
9endothelial tube morphogenesis (GO:0061154)4.80759747
10morphogenesis of an endothelium (GO:0003159)4.80759747
11detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)4.66124926
12positive regulation of actin filament depolymerization (GO:0030836)4.65619582
13fibril organization (GO:0097435)4.51538316
14proteasome assembly (GO:0043248)4.44927201
15sequestering of actin monomers (GO:0042989)4.31521831
16mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)4.21516967
17glomerular visceral epithelial cell development (GO:0072015)4.18549835
18negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.17389373
19positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.15931817
20type B pancreatic cell proliferation (GO:0044342)4.13638050
21protein retention in ER lumen (GO:0006621)4.12880955
22negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.11146198
23negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)4.11063212
24detection of chemical stimulus involved in sensory perception of taste (GO:0050912)4.00184863
25positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.93356380
26positive regulation of mitochondrial fission (GO:0090141)3.91561613
27regulation of cellular amino acid metabolic process (GO:0006521)3.89261836
28galactose metabolic process (GO:0006012)3.87293014
29regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.79207365
30maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.66816725
31glomerular epithelial cell development (GO:0072310)3.65550317
32negative regulation of ligase activity (GO:0051352)3.64636891
33negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.64636891
34anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.58521238
35mesonephros development (GO:0001823)3.55498334
36DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.53936469
37Golgi transport vesicle coating (GO:0048200)3.53329344
38COPI coating of Golgi vesicle (GO:0048205)3.53329344
39mesenchymal cell differentiation involved in renal system development (GO:2001012)3.51450448
40mesenchymal cell differentiation involved in kidney development (GO:0072161)3.51450448
41lipopolysaccharide biosynthetic process (GO:0009103)3.50544415
42regulation of metalloenzyme activity (GO:0048552)3.50049103
43signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.42024482
44intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.42024482
45pattern specification involved in kidney development (GO:0061004)3.39169023
46signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.38730972
47signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.38730972
48signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.38730972
49actin filament depolymerization (GO:0030042)3.38239287
50muscle cell migration (GO:0014812)3.29231305
51positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.28042349
52regulation of mitochondrial translation (GO:0070129)3.27581215
53signal transduction involved in DNA integrity checkpoint (GO:0072401)3.23854741
54signal transduction involved in DNA damage checkpoint (GO:0072422)3.23854741
55signal transduction involved in cell cycle checkpoint (GO:0072395)3.18532043
56protein heterotetramerization (GO:0051290)3.13908780
57cullin deneddylation (GO:0010388)3.07270932
58regulation of cilium movement (GO:0003352)3.03663455
59positive regulation of ligase activity (GO:0051351)3.02091944
60GTP biosynthetic process (GO:0006183)3.00964797
61ventricular cardiac muscle cell development (GO:0055015)2.99895303
62organ induction (GO:0001759)2.99372936
63RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.99273379
64tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.99273379
65positive regulation of endothelial cell differentiation (GO:0045603)2.95377169
66mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.93395483
67regulation of mitochondrial fission (GO:0090140)2.92433722
68retina homeostasis (GO:0001895)2.92061957
69positive regulation of protein complex disassembly (GO:0043243)2.91460648
70antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.90890876
71embryonic skeletal joint morphogenesis (GO:0060272)2.90724097
72negative regulation of metanephros development (GO:0072217)2.89869891
73guanosine-containing compound biosynthetic process (GO:1901070)2.89083272
74protein complex biogenesis (GO:0070271)2.87682831
75ribosome assembly (GO:0042255)2.85230103
76facial nerve structural organization (GO:0021612)2.84789700
77mitochondrial calcium ion homeostasis (GO:0051560)2.84684658
78barbed-end actin filament capping (GO:0051016)2.84418930
79myelin assembly (GO:0032288)2.81670744
80protein deneddylation (GO:0000338)2.80990528
81membrane raft organization (GO:0031579)2.80613221
82mesenchymal cell proliferation (GO:0010463)2.80119947
83DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.77681176
84regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.75496056
85regulation of ubiquitin-protein transferase activity (GO:0051438)2.75458438
86heart field specification (GO:0003128)2.74999465
87secondary heart field specification (GO:0003139)2.74999465
88lipopolysaccharide metabolic process (GO:0008653)2.74709524
89cell wall macromolecule catabolic process (GO:0016998)2.74426299
90mannosylation (GO:0097502)2.73352105
91regulation of cellular amine metabolic process (GO:0033238)2.72888132
92nucleoside transmembrane transport (GO:1901642)2.72713283
93negative regulation of mitochondrion organization (GO:0010823)2.72708324
94response to interferon-beta (GO:0035456)2.72600929
95energy coupled proton transport, down electrochemical gradient (GO:0015985)2.72363180
96ATP synthesis coupled proton transport (GO:0015986)2.72363180
97nucleotide transmembrane transport (GO:1901679)2.72110449
98endocardial cushion development (GO:0003197)2.71081667
99positive regulation of pseudopodium assembly (GO:0031274)2.70178571
100peptidyl-arginine omega-N-methylation (GO:0035247)2.67845705

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.09353361
2TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.66074597
3JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.62470339
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.59434235
5TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.51047752
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.39421470
7EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.39062786
8HIF1A_21447827_ChIP-Seq_MCF-7_Human3.12486275
9SRF_21415370_ChIP-Seq_HL-1_Mouse2.80641013
10HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.79542868
11CREB1_15753290_ChIP-ChIP_HEK293T_Human2.78795224
12EST1_17652178_ChIP-ChIP_JURKAT_Human2.74113228
13ETS1_20019798_ChIP-Seq_JURKAT_Human2.65565726
14E2F1_18555785_ChIP-Seq_MESCs_Mouse2.54051335
15RARG_19884340_ChIP-ChIP_MEFs_Mouse2.51911173
16ATF3_23680149_ChIP-Seq_GBM1-GSC_Human2.49705656
17MYC_18358816_ChIP-ChIP_MESCs_Mouse2.45006062
18DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.36004028
19THAP11_20581084_ChIP-Seq_MESCs_Mouse2.29873594
20DMRT1_21621532_ChIP-ChIP_FETAL_Ovary2.28595933
21CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.27659847
22SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.23249023
23HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.21862661
24GABP_19822575_ChIP-Seq_HepG2_Human2.19760447
25MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.19618606
26FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.17959559
27PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.14287245
28CCND1_20090754_ChIP-ChIP_RETINA_Mouse2.09160339
29NELFA_20434984_ChIP-Seq_ESCs_Mouse2.08533775
30CEBPB_24764292_ChIP-Seq_MC3T3_Mouse2.05030170
31VDR_23849224_ChIP-Seq_CD4+_Human2.01968499
32CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.98099007
33POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.96587876
34DCP1A_22483619_ChIP-Seq_HELA_Human1.85529416
35ELF1_17652178_ChIP-ChIP_JURKAT_Human1.80863905
36E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.80564696
37ELK1_19687146_ChIP-ChIP_HELA_Human1.79510706
38MYC_19030024_ChIP-ChIP_MESCs_Mouse1.69622167
39MYC_18555785_ChIP-Seq_MESCs_Mouse1.61640748
40ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.59707239
41CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.59233020
42FOXP3_21729870_ChIP-Seq_TREG_Human1.55439702
43PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.53287414
44BP1_19119308_ChIP-ChIP_Hs578T_Human1.53055198
45HOXB4_20404135_ChIP-ChIP_EML_Mouse1.46915919
46JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.46601881
47HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.46451717
48PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.44017862
49SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.43370182
50POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.42040547
51CTCF_18555785_ChIP-Seq_MESCs_Mouse1.40985374
52BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.40613537
53YY1_21170310_ChIP-Seq_MESCs_Mouse1.39884346
54FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.39472002
55XRN2_22483619_ChIP-Seq_HELA_Human1.38756987
56CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.38717274
57SOX17_20123909_ChIP-Seq_XEN_Mouse1.36876377
58CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.35973354
59TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.35531380
60PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.35104666
61ELK1_22589737_ChIP-Seq_MCF10A_Human1.32103201
62JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.31129070
63EOMES_21245162_ChIP-Seq_HESCs_Human1.30979883
64CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.30771641
65TRIM28_21343339_ChIP-Seq_HEK293_Human1.27491671
66CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.25107412
67SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.24159976
68KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.24044697
69PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.23373819
70ZFX_18555785_ChIP-Seq_MESCs_Mouse1.23208438
71FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.22208912
72CSB_26484114_Chip-Seq_FIBROBLAST_Human1.21500964
73CBP_21632823_ChIP-Seq_H3396_Human1.21352079
74NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.20739436
75PADI4_21655091_ChIP-ChIP_MCF-7_Human1.19433340
76NANOG_18555785_ChIP-Seq_MESCs_Mouse1.18325173
77FOXP1_21924763_ChIP-Seq_HESCs_Human1.18097649
78CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.16142727
79TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.14661370
80SRY_22984422_ChIP-ChIP_TESTIS_Rat1.13591150
81ELK3_25401928_ChIP-Seq_HUVEC_Human1.13426894
82ZNF263_19887448_ChIP-Seq_K562_Human1.09692235
83TTF2_22483619_ChIP-Seq_HELA_Human1.09587528
84E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.08128410
85TFEB_21752829_ChIP-Seq_HELA_Human1.07820171
86MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.07145999
87RBPJ_22232070_ChIP-Seq_NCS_Mouse1.05578260
88NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.03909907
89TBX5_21415370_ChIP-Seq_HL-1_Mouse1.03862905
90MYC_19079543_ChIP-ChIP_MESCs_Mouse1.03044905
91ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.02123037
92EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.01464139
93BCL6_27268052_Chip-Seq_Bcells_Human0.99091971
94SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.99086994
95ATF3_27146783_Chip-Seq_COLON_Human0.97991997
96TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.97960037
97SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.97603998
98SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.97603998
99NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.95317264
100RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.95212590

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010030_abnormal_orbit_morphology5.45105284
2MP0005257_abnormal_intraocular_pressure4.16730721
3MP0003191_abnormal_cellular_cholesterol3.75242306
4MP0000749_muscle_degeneration3.73336969
5MP0003123_paternal_imprinting3.18515776
6MP0000751_myopathy2.91830839
7MP0008789_abnormal_olfactory_epithelium2.89928928
8MP0004272_abnormal_basement_membrane2.75253078
9MP0005367_renal/urinary_system_phenotyp2.50603281
10MP0000516_abnormal_urinary_system2.50603281
11MP0008775_abnormal_heart_ventricle2.46584621
12MP0001542_abnormal_bone_strength2.44319539
13MP0006054_spinal_hemorrhage2.35191104
14MP0008260_abnormal_autophagy2.33929098
15MP0000750_abnormal_muscle_regeneration2.26235517
16MP0001299_abnormal_eye_distance/2.25066886
17MP0004147_increased_porphyrin_level2.24243324
18MP0009780_abnormal_chondrocyte_physiolo2.16148080
19MP0009840_abnormal_foam_cell2.13906335
20MP0002332_abnormal_exercise_endurance2.07701006
21MP0005670_abnormal_white_adipose2.03865677
22MP0005083_abnormal_biliary_tract1.99000738
23MP0003806_abnormal_nucleotide_metabolis1.96779114
24MP0003315_abnormal_perineum_morphology1.93920785
25MP0010368_abnormal_lymphatic_system1.86510459
26MP0005058_abnormal_lysosome_morphology1.85066097
27MP0004510_myositis1.82710677
28MP0003950_abnormal_plasma_membrane1.81230674
29MP0005499_abnormal_olfactory_system1.74702709
30MP0005394_taste/olfaction_phenotype1.74702709
31MP0002177_abnormal_outer_ear1.57310360
32MP0003880_abnormal_central_pattern1.55703757
33MP0000747_muscle_weakness1.53155640
34MP0005165_increased_susceptibility_to1.47228148
35MP0003786_premature_aging1.39443394
36MP0000762_abnormal_tongue_morphology1.36363820
37MP0009697_abnormal_copulation1.35533945
38MP0002102_abnormal_ear_morphology1.30702162
39MP0001727_abnormal_embryo_implantation1.28825487
40MP0000647_abnormal_sebaceous_gland1.26685111
41MP0005330_cardiomyopathy1.25552284
42MP0003186_abnormal_redox_activity1.25472356
43MP0000358_abnormal_cell_content/1.25270521
44MP0005360_urolithiasis1.22877200
45MP0003566_abnormal_cell_adhesion1.21194164
46MP0002282_abnormal_trachea_morphology1.19194034
47MP0002653_abnormal_ependyma_morphology1.14082557
48MP0002938_white_spotting1.13852553
49MP0000343_altered_response_to1.12246832
50MP0001346_abnormal_lacrimal_gland1.11705731
51MP0008438_abnormal_cutaneous_collagen1.10292244
52MP0008932_abnormal_embryonic_tissue1.08209155
53MP0002269_muscular_atrophy1.03681213
54MP0003718_maternal_effect1.00117845
55MP0006035_abnormal_mitochondrial_morpho0.95196904
56MP0002972_abnormal_cardiac_muscle0.94947348
57MP0005197_abnormal_uvea_morphology0.90408220
58MP0006036_abnormal_mitochondrial_physio0.90222707
59MP0000372_irregular_coat_pigmentation0.89363141
60MP0005584_abnormal_enzyme/coenzyme_acti0.88499811
61MP0002295_abnormal_pulmonary_circulatio0.87859941
62MP0006276_abnormal_autonomic_nervous0.86872324
63MP0003077_abnormal_cell_cycle0.86143300
64MP0002106_abnormal_muscle_physiology0.85336563
65MP0001243_abnormal_dermal_layer0.85070301
66MP0008875_abnormal_xenobiotic_pharmacok0.84798897
67MP0000759_abnormal_skeletal_muscle0.82163979
68MP0003075_altered_response_to0.81217275
69MP0003938_abnormal_ear_development0.81181141
70MP0005620_abnormal_muscle_contractility0.80012480
71MP0001293_anophthalmia0.78629717
72MP0009046_muscle_twitch0.76797715
73MP0003121_genomic_imprinting0.76437753
74MP0002060_abnormal_skin_morphology0.76221557
75MP0005451_abnormal_body_composition0.75595553
76MP0002233_abnormal_nose_morphology0.74771419
77MP0000534_abnormal_ureter_morphology0.73296193
78MP0003942_abnormal_urinary_system0.70921324
79MP0000858_altered_metastatic_potential0.69458671
80MP0004087_abnormal_muscle_fiber0.69419264
81MP0005171_absent_coat_pigmentation0.68899862
82MP0003693_abnormal_embryo_hatching0.67779491
83MP0003638_abnormal_response/metabolism_0.67342777
84MP0001905_abnormal_dopamine_level0.64641272
85MP0003656_abnormal_erythrocyte_physiolo0.64427081
86MP0005084_abnormal_gallbladder_morpholo0.63333306
87MP0004133_heterotaxia0.63269285
88MP0005369_muscle_phenotype0.63193534
89MP0000163_abnormal_cartilage_morphology0.61062504
90MP0001986_abnormal_taste_sensitivity0.60560141
91MP0003279_aneurysm0.59780964
92MP0002277_abnormal_respiratory_mucosa0.59712377
93MP0002127_abnormal_cardiovascular_syste0.59600616
94MP0000613_abnormal_salivary_gland0.59120944
95MP0005410_abnormal_fertilization0.57497263
96MP0004742_abnormal_vestibular_system0.55184367
97MP0005085_abnormal_gallbladder_physiolo0.54556784
98MP0001340_abnormal_eyelid_morphology0.54345643
99MP0002932_abnormal_joint_morphology0.54217174
100MP0003329_amyloid_beta_deposits0.53254703

Predicted human phenotypes

RankGene SetZ-score
1Delayed CNS myelination (HP:0002188)4.97123636
2Adrenal hypoplasia (HP:0000835)4.80195979
3Amyloidosis (HP:0011034)4.55990405
4Glucose intolerance (HP:0000833)3.97831726
5Microglossia (HP:0000171)3.85771766
6Hepatocellular necrosis (HP:0001404)3.79816135
7Upper limb muscle weakness (HP:0003484)3.56802212
8Reduced subcutaneous adipose tissue (HP:0003758)3.43892684
9Retinal dysplasia (HP:0007973)3.43242553
10Abnormal gallbladder physiology (HP:0012438)3.43188019
11Cholecystitis (HP:0001082)3.43188019
12Mitochondrial inheritance (HP:0001427)3.36455833
13Exercise-induced muscle cramps (HP:0003710)3.35495699
14Hepatic necrosis (HP:0002605)3.28887419
15Acute necrotizing encephalopathy (HP:0006965)3.10796461
16Abnormal mitochondria in muscle tissue (HP:0008316)3.07002591
17Increased serum pyruvate (HP:0003542)3.05356515
18Down-sloping shoulders (HP:0200021)3.02464610
19Abnormal protein N-linked glycosylation (HP:0012347)2.95788362
20Abnormal protein glycosylation (HP:0012346)2.95788362
21Abnormal glycosylation (HP:0012345)2.95788362
22Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.95788362
23Type I transferrin isoform profile (HP:0003642)2.95777799
24Reduced antithrombin III activity (HP:0001976)2.92355329
25Abnormality of glycolysis (HP:0004366)2.91316825
26Increased CSF lactate (HP:0002490)2.85573400
27Severe muscular hypotonia (HP:0006829)2.83237203
28Microretrognathia (HP:0000308)2.77957311
29Abnormality of the musculature of the pelvis (HP:0001469)2.76733002
30Abnormality of the hip-girdle musculature (HP:0001445)2.76733002
31Shoulder girdle muscle weakness (HP:0003547)2.70607022
32Proximal placement of thumb (HP:0009623)2.64916904
33Limb-girdle muscle atrophy (HP:0003797)2.62740832
34Hypokinesia (HP:0002375)2.61850792
35Flat capital femoral epiphysis (HP:0003370)2.61253855
36Acute encephalopathy (HP:0006846)2.60079691
37Premature rupture of membranes (HP:0001788)2.59552909
38Pelvic girdle muscle weakness (HP:0003749)2.58301704
39Sclerocornea (HP:0000647)2.50954693
40Bifid uvula (HP:0000193)2.48232034
41Abnormal glucose tolerance (HP:0001952)2.47260854
42Short tibia (HP:0005736)2.45208752
43Exercise intolerance (HP:0003546)2.42900778
44Aplasia/Hypoplasia of the tongue (HP:0010295)2.42227108
45Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.39740416
46Abnormality of alanine metabolism (HP:0010916)2.39740416
47Hyperalaninemia (HP:0003348)2.39740416
48Entropion (HP:0000621)2.39564430
49Median cleft lip (HP:0000161)2.36963396
50Supernumerary spleens (HP:0009799)2.35755675
51Progressive macrocephaly (HP:0004481)2.33535862
52Prolonged neonatal jaundice (HP:0006579)2.31778036
53Congenital primary aphakia (HP:0007707)2.28424146
54Deviation of the thumb (HP:0009603)2.25757433
55Increased serum lactate (HP:0002151)2.23151014
56Lactic acidosis (HP:0003128)2.20088210
57Difficulty climbing stairs (HP:0003551)2.19673323
58Renal Fanconi syndrome (HP:0001994)2.17099441
59Gait imbalance (HP:0002141)2.16192025
60Aplasia/Hypoplasia of the tibia (HP:0005772)2.15631474
61Methylmalonic aciduria (HP:0012120)2.15504388
62Rough bone trabeculation (HP:0100670)2.15440767
63Hand muscle atrophy (HP:0009130)2.14163934
64CNS demyelination (HP:0007305)2.10071280
65Emotional lability (HP:0000712)2.09720536
66Preaxial hand polydactyly (HP:0001177)2.05678109
67Absent speech (HP:0001344)2.04921535
68Abnormality of liposaccharide metabolism (HP:0010968)2.04398088
69Abnormality of glycosphingolipid metabolism (HP:0004343)2.04398088
70Abnormality of glycolipid metabolism (HP:0010969)2.04398088
71Delayed gross motor development (HP:0002194)2.02574923
72Medial flaring of the eyebrow (HP:0010747)2.01180736
73Nephrogenic diabetes insipidus (HP:0009806)1.99915199
74Sparse eyelashes (HP:0000653)1.99358147
75Postaxial foot polydactyly (HP:0001830)1.97316785
76Abnormality of the umbilical cord (HP:0010881)1.95730959
77Dental crowding (HP:0000678)1.95587362
78Insulin resistance (HP:0000855)1.95119720
79Cerebral edema (HP:0002181)1.94032529
80Abnormality of the sella turcica (HP:0002679)1.92546407
81Respiratory failure (HP:0002878)1.92242994
82Vacuolated lymphocytes (HP:0001922)1.87766318
83Vertebral compression fractures (HP:0002953)1.87578254
84Opisthotonus (HP:0002179)1.87137079
85Secondary amenorrhea (HP:0000869)1.86735634
86Short nail (HP:0001799)1.85586202
87X-linked dominant inheritance (HP:0001423)1.85346039
88Decreased subcutaneous fat (HP:0001002)1.84528495
89Joint hemorrhage (HP:0005261)1.81969252
90Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.81601325
91Decreased activity of mitochondrial respiratory chain (HP:0008972)1.81601325
92Aplasia/Hypoplasia of the sacrum (HP:0008517)1.81596130
93Renal hypoplasia (HP:0000089)1.81008238
94Myoglobinuria (HP:0002913)1.80666036
95Increased hepatocellular lipid droplets (HP:0006565)1.80651987
96Increased intramyocellular lipid droplets (HP:0012240)1.80351008
97Abnormalities of placenta or umbilical cord (HP:0001194)1.79954978
98Osteolytic defects of the phalanges of the hand (HP:0009771)1.78979523
99Osteolytic defects of the hand bones (HP:0009699)1.78979523
100Hypoplastic pelvis (HP:0008839)1.77958702

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TESK25.33768614
2TESK15.07077310
3VRK24.85560172
4LIMK14.64367810
5NME24.48741789
6ARAF3.19007003
7EPHA22.67114528
8BCKDK2.61690967
9MAP2K72.43769262
10LMTK22.23010317
11BUB12.01080342
12DAPK11.96280850
13PIM21.92027993
14EPHB11.91326082
15CSNK1G31.80855014
16EPHA41.78643434
17MAP3K121.76167406
18KDR1.71461997
19CSNK1A1L1.69277749
20MOS1.63572821
21PHKG21.46960242
22PHKG11.46960242
23SRPK11.45921209
24MAPKAPK31.40296844
25PAK41.39719608
26CSNK1G21.38929762
27STK161.36398788
28MYLK1.36340217
29VRK11.35460296
30NUAK11.33341168
31CSNK1G11.29087673
32ABL21.20824053
33PDK21.19158703
34STK101.09008432
35PTK2B1.07135129
36ERBB31.03931024
37ILK1.00946581
38MST1R0.90633030
39PBK0.82701076
40AURKA0.81458183
41NEK10.80560021
42EPHB20.79796703
43PAK10.77751095
44INSRR0.73684593
45MUSK0.71935142
46CDK80.71785504
47DAPK30.71556831
48DAPK20.71237536
49GRK70.69261932
50MST40.68309850
51BRAF0.64136088
52TAOK20.63320773
53BRSK10.62708354
54FER0.59409626
55CDK140.58399198
56ERBB40.56393819
57MAP3K110.55353083
58TAF10.55127612
59BCR0.54077479
60ERN10.50904522
61CCNB10.50221649
62GRK50.50094050
63PLK10.50053761
64CDK180.46964737
65CDK150.46050319
66PLK30.45928958
67MAP4K20.45881264
68CDK70.44577592
69PLK20.43969142
70PINK10.42769882
71CDK11A0.42627830
72ADRBK10.38084001
73PTK20.37707781
74SCYL20.36516269
75DYRK20.35922307
76NME10.35830655
77RAF10.34799563
78EIF2AK30.33249766
79TGFBR20.32822328
80PRKCI0.32749475
81MAPKAPK20.30937199
82OBSCN0.29256641
83CAMK2G0.29232021
84BMX0.29119845
85STK38L0.29114968
86CSNK1A10.28999063
87WEE10.27960132
88BMPR1B0.27297708
89TIE10.26423653
90AURKB0.25251125
91PAK60.24882941
92CDK190.24200567
93MAP3K40.24110162
94TBK10.23783916
95CSNK2A20.21727944
96TLK10.21295758
97RPS6KA50.20813712
98TRIM280.17764621
99ZAK0.17501864
100PRKCE0.16888748

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030505.24692981
2Sulfur relay system_Homo sapiens_hsa041222.94298374
3Oxidative phosphorylation_Homo sapiens_hsa001902.91528761
4Fatty acid elongation_Homo sapiens_hsa000622.76769355
5Primary bile acid biosynthesis_Homo sapiens_hsa001202.71381456
6Parkinsons disease_Homo sapiens_hsa050122.61861405
7Steroid biosynthesis_Homo sapiens_hsa001002.43237022
8DNA replication_Homo sapiens_hsa030302.14508787
9Huntingtons disease_Homo sapiens_hsa050162.13175047
10Glutathione metabolism_Homo sapiens_hsa004802.09739602
11Galactose metabolism_Homo sapiens_hsa000522.02608295
12Alzheimers disease_Homo sapiens_hsa050101.99266200
13RNA polymerase_Homo sapiens_hsa030201.98735587
14Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.96171661
15Pyrimidine metabolism_Homo sapiens_hsa002401.93763965
16Base excision repair_Homo sapiens_hsa034101.93386441
17Folate biosynthesis_Homo sapiens_hsa007901.84822372
18Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.82282618
19Pentose phosphate pathway_Homo sapiens_hsa000301.80896436
20Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.78600912
21Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.76010285
22Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.73976384
23Fructose and mannose metabolism_Homo sapiens_hsa000511.67381856
24Biosynthesis of amino acids_Homo sapiens_hsa012301.60786015
25Pyruvate metabolism_Homo sapiens_hsa006201.59129662
26Sulfur metabolism_Homo sapiens_hsa009201.55279346
27Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.54900951
28Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.54151215
29Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.53945116
302-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.46488257
31Homologous recombination_Homo sapiens_hsa034401.43747126
32Mismatch repair_Homo sapiens_hsa034301.41702746
33Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.34510148
34Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.32079614
35Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.29609588
36Salivary secretion_Homo sapiens_hsa049701.29340689
37Carbon metabolism_Homo sapiens_hsa012001.25546484
38Nucleotide excision repair_Homo sapiens_hsa034201.22081396
39Ribosome_Homo sapiens_hsa030101.18893369
40Purine metabolism_Homo sapiens_hsa002301.12975740
41Glycosaminoglycan degradation_Homo sapiens_hsa005311.08434492
42N-Glycan biosynthesis_Homo sapiens_hsa005101.07082111
43Propanoate metabolism_Homo sapiens_hsa006401.04350822
44Protein export_Homo sapiens_hsa030601.02009972
45Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.98881420
46Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.94623161
47Cysteine and methionine metabolism_Homo sapiens_hsa002700.91343325
48Cardiac muscle contraction_Homo sapiens_hsa042600.87913333
49Metabolic pathways_Homo sapiens_hsa011000.85730692
50Vibrio cholerae infection_Homo sapiens_hsa051100.85110886
51Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.85025008
52Peroxisome_Homo sapiens_hsa041460.84729121
53Chemical carcinogenesis_Homo sapiens_hsa052040.83620318
54Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.82771232
55Drug metabolism - other enzymes_Homo sapiens_hsa009830.80464060
56Caffeine metabolism_Homo sapiens_hsa002320.78473838
57Other glycan degradation_Homo sapiens_hsa005110.77933601
58Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.76675063
59SNARE interactions in vesicular transport_Homo sapiens_hsa041300.72446760
60Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.70347273
61Cyanoamino acid metabolism_Homo sapiens_hsa004600.68612716
62Regulation of autophagy_Homo sapiens_hsa041400.68226790
63Hedgehog signaling pathway_Homo sapiens_hsa043400.66790590
64Lysosome_Homo sapiens_hsa041420.60520597
65Basal transcription factors_Homo sapiens_hsa030220.59220310
66Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.57671075
67Basal cell carcinoma_Homo sapiens_hsa052170.56153517
68Fanconi anemia pathway_Homo sapiens_hsa034600.55603023
69Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.53747991
70Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.52997758
71Shigellosis_Homo sapiens_hsa051310.52198252
72Arginine and proline metabolism_Homo sapiens_hsa003300.51993479
73Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.51416193
74Arachidonic acid metabolism_Homo sapiens_hsa005900.50338196
75RNA degradation_Homo sapiens_hsa030180.48203885
76Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.47770324
77Fatty acid metabolism_Homo sapiens_hsa012120.47131806
78Butanoate metabolism_Homo sapiens_hsa006500.47112435
79Phenylalanine metabolism_Homo sapiens_hsa003600.46418582
80Steroid hormone biosynthesis_Homo sapiens_hsa001400.46203246
81Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.45049118
82Tyrosine metabolism_Homo sapiens_hsa003500.44498564
83Starch and sucrose metabolism_Homo sapiens_hsa005000.44450450
84Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.42946403
85Pentose and glucuronate interconversions_Homo sapiens_hsa000400.38591815
86Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.37966264
87p53 signaling pathway_Homo sapiens_hsa041150.37064726
88Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.36453157
89beta-Alanine metabolism_Homo sapiens_hsa004100.32973872
90Oocyte meiosis_Homo sapiens_hsa041140.30347378
91Tight junction_Homo sapiens_hsa045300.29543725
92Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.28860286
93Tryptophan metabolism_Homo sapiens_hsa003800.25597198
94Spliceosome_Homo sapiens_hsa030400.25275054
95Cell cycle_Homo sapiens_hsa041100.23970525
96Epstein-Barr virus infection_Homo sapiens_hsa051690.23617923
97Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.23263639
98RNA transport_Homo sapiens_hsa030130.22200494
99Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.22162271
100Endocytosis_Homo sapiens_hsa041440.21026163

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