PLEKHA8P1

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 neddylation (GO:0045116)6.36562199
2thrombin receptor signaling pathway (GO:0070493)5.84459467
3neutrophil activation involved in immune response (GO:0002283)5.30418506
4negative regulation of thymocyte apoptotic process (GO:0070244)5.01974336
5regulation of memory T cell differentiation (GO:0043380)4.53973870
6regulation of platelet aggregation (GO:0090330)4.48324382
7polyamine biosynthetic process (GO:0006596)4.35702228
8regulation of platelet activation (GO:0010543)3.90273505
9purinergic nucleotide receptor signaling pathway (GO:0035590)3.88650744
10regulation of meiosis I (GO:0060631)3.86985819
11triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.76440738
12positive regulation of endothelial cell differentiation (GO:0045603)3.72844028
13negative regulation of heart rate (GO:0010459)3.70159101
14cellular biogenic amine biosynthetic process (GO:0042401)3.59705954
15positive regulation of cAMP-mediated signaling (GO:0043950)3.58684224
16negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)3.56712082
17adenosine metabolic process (GO:0046085)3.51689635
18negative regulation of T-helper cell differentiation (GO:0045623)3.43069396
19negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.43069396
20amine biosynthetic process (GO:0009309)3.41003222
21negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.40579638
22regulation of Golgi to plasma membrane protein transport (GO:0042996)3.38004618
23negative regulation of T cell apoptotic process (GO:0070233)3.35689507
24proteasome assembly (GO:0043248)3.31770159
25piRNA metabolic process (GO:0034587)3.30946073
26G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.27167746
27dopamine transport (GO:0015872)3.26871518
28pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.25836949
29positive regulation of mast cell activation (GO:0033005)3.21269632
30negative regulation of response to food (GO:0032096)3.20757833
31negative regulation of appetite (GO:0032099)3.20757833
32blood coagulation, intrinsic pathway (GO:0007597)3.19781540
33regulation of MHC class II biosynthetic process (GO:0045346)3.18030129
34negative regulation of homotypic cell-cell adhesion (GO:0034111)3.17238195
35regulation of thymocyte apoptotic process (GO:0070243)3.15633502
36fusion of sperm to egg plasma membrane (GO:0007342)3.14131939
37pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.12348991
38cellular biogenic amine catabolic process (GO:0042402)3.11065272
39amine catabolic process (GO:0009310)3.11065272
40RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.09333957
41tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.09333957
42DNA double-strand break processing (GO:0000729)3.06605800
43fatty acid elongation (GO:0030497)3.06030280
44negative regulation of norepinephrine secretion (GO:0010700)3.05139343
45platelet aggregation (GO:0070527)3.04181395
46lipoxygenase pathway (GO:0019372)3.00647906
47leukocyte migration involved in inflammatory response (GO:0002523)2.99392611
48purine-containing compound salvage (GO:0043101)2.97119261
49positive regulation of B cell differentiation (GO:0045579)2.97031119
50neutrophil activation (GO:0042119)2.96944107
51ether lipid metabolic process (GO:0046485)2.94689885
52regulation of megakaryocyte differentiation (GO:0045652)2.94286970
53positive regulation of alpha-beta T cell proliferation (GO:0046641)2.93798092
54negative regulation of platelet activation (GO:0010544)2.92401935
55polyamine metabolic process (GO:0006595)2.86742119
56positive regulation of T cell cytokine production (GO:0002726)2.85763803
57sequestering of actin monomers (GO:0042989)2.84812583
58regulation of T-helper 1 cell differentiation (GO:0045625)2.83729940
59deoxyribose phosphate catabolic process (GO:0046386)2.83008065
60purinergic receptor signaling pathway (GO:0035587)2.82898133
61mismatch repair (GO:0006298)2.78612496
62angiogenesis involved in wound healing (GO:0060055)2.70504134
63platelet dense granule organization (GO:0060155)2.70018291
64positive regulation of DNA recombination (GO:0045911)2.69892131
65meiosis I (GO:0007127)2.69116167
66negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.66176574
67pyrimidine nucleotide catabolic process (GO:0006244)2.65320211
68negative regulation of calcium ion transport into cytosol (GO:0010523)2.65258380
69deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.64827287
70deoxyribonucleotide catabolic process (GO:0009264)2.64270248
71regulation of homotypic cell-cell adhesion (GO:0034110)2.62587727
72rRNA methylation (GO:0031167)2.61623851
73regulation of histone H3-K9 methylation (GO:0051570)2.59995106
74detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.59929630
75adenosine receptor signaling pathway (GO:0001973)2.59462979
76meiotic chromosome segregation (GO:0045132)2.55513996
77ubiquinone biosynthetic process (GO:0006744)2.54564206
78hepatocyte apoptotic process (GO:0097284)2.53723345
79DNA deamination (GO:0045006)2.53685726
80positive regulation of macrophage differentiation (GO:0045651)2.52882111
81regulation of mitochondrial depolarization (GO:0051900)2.52491593
82positive regulation of granulocyte differentiation (GO:0030854)2.52414856
83pyrimidine nucleoside catabolic process (GO:0046135)2.51572378
84superoxide anion generation (GO:0042554)2.51004475
85regulation of integrin-mediated signaling pathway (GO:2001044)2.50880706
86granulocyte activation (GO:0036230)2.50612160
87low-density lipoprotein particle remodeling (GO:0034374)2.50542007
88deoxyribose phosphate metabolic process (GO:0019692)2.47873355
89cardiolipin metabolic process (GO:0032048)2.47702778
90male meiosis (GO:0007140)2.46911387
91positive regulation of isotype switching (GO:0045830)2.46846328
92megakaryocyte development (GO:0035855)2.44098297
93negative regulation of alpha-beta T cell differentiation (GO:0046639)2.44026776
94centriole replication (GO:0007099)2.40972657
95regulation of norepinephrine secretion (GO:0014061)2.40291050
96regulation of regulatory T cell differentiation (GO:0045589)2.40247649
97positive regulation of B cell mediated immunity (GO:0002714)2.38102782
98positive regulation of immunoglobulin mediated immune response (GO:0002891)2.38102782
99rRNA modification (GO:0000154)2.37805211
100regulation of endothelial cell differentiation (GO:0045601)2.37524095

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse4.07326608
2VDR_22108803_ChIP-Seq_LS180_Human3.07343334
3E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.91177854
4LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.73985765
5GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.63390599
6SCL_19346495_ChIP-Seq_HPC-7_Human2.52473434
7PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.40331915
8SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.34643284
9IRF8_21731497_ChIP-ChIP_J774_Mouse2.30554271
10GABP_17652178_ChIP-ChIP_JURKAT_Human2.21307488
11KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.18847201
12FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.14125720
13FLI1_27457419_Chip-Seq_LIVER_Mouse2.10672081
14ELK1_19687146_ChIP-ChIP_HELA_Human2.05328330
15RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.04796394
16ELF1_17652178_ChIP-ChIP_JURKAT_Human2.04547369
17E2F4_17652178_ChIP-ChIP_JURKAT_Human2.02260269
18POU3F2_20337985_ChIP-ChIP_501MEL_Human2.00593595
19EST1_17652178_ChIP-ChIP_JURKAT_Human1.99724249
20HOXB4_20404135_ChIP-ChIP_EML_Mouse1.97091040
21IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.93156936
22EWS_26573619_Chip-Seq_HEK293_Human1.88932446
23MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.85610526
24E2F7_22180533_ChIP-Seq_HELA_Human1.83258277
25GBX2_23144817_ChIP-Seq_PC3_Human1.74225651
26EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.73389781
27RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.71880583
28TAF15_26573619_Chip-Seq_HEK293_Human1.68524329
29EGR1_23403033_ChIP-Seq_LIVER_Mouse1.63487546
30IRF1_19129219_ChIP-ChIP_H3396_Human1.61390976
31IGF1R_20145208_ChIP-Seq_DFB_Human1.58803892
32VDR_23849224_ChIP-Seq_CD4+_Human1.55563469
33FOXP3_21729870_ChIP-Seq_TREG_Human1.55502441
34HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.52436773
35HTT_18923047_ChIP-ChIP_STHdh_Human1.52391298
36GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.51913935
37LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.50615978
38MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.47171921
39PCGF2_27294783_Chip-Seq_ESCs_Mouse1.46709468
40ZNF274_21170338_ChIP-Seq_K562_Hela1.42534207
41EZH2_27294783_Chip-Seq_NPCs_Mouse1.42234964
42GATA2_21666600_ChIP-Seq_HMVEC_Human1.39993819
43SALL4_22934838_ChIP-ChIP_CD34+_Human1.39622826
44Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.32948122
45STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.28730690
46TP53_22573176_ChIP-Seq_HFKS_Human1.28227836
47AR_20517297_ChIP-Seq_VCAP_Human1.27181421
48SOX2_19829295_ChIP-Seq_ESCs_Human1.26640797
49NANOG_19829295_ChIP-Seq_ESCs_Human1.26640797
50P300_19829295_ChIP-Seq_ESCs_Human1.26284990
51IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.24582632
52GATA1_22025678_ChIP-Seq_K562_Human1.22098904
53UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.21330046
54SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.18511065
55GATA3_21878914_ChIP-Seq_MCF-7_Human1.18495057
56SUZ12_27294783_Chip-Seq_NPCs_Mouse1.18165291
57GATA3_26560356_Chip-Seq_TH2_Human1.17738355
58ER_23166858_ChIP-Seq_MCF-7_Human1.17283539
59NFE2_27457419_Chip-Seq_LIVER_Mouse1.16639883
60FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.15285970
61CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.14930089
62FUS_26573619_Chip-Seq_HEK293_Human1.13724167
63FOXA1_25329375_ChIP-Seq_VCAP_Human1.13531136
64FOXA1_27270436_Chip-Seq_PROSTATE_Human1.13531136
65CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.12766068
66FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.11751759
67PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.10670397
68CRX_20693478_ChIP-Seq_RETINA_Mouse1.10414395
69NOTCH1_21737748_ChIP-Seq_TLL_Human1.10220487
70SRF_21415370_ChIP-Seq_HL-1_Mouse1.09632704
71GATA2_19941826_ChIP-Seq_K562_Human1.09108721
72BCAT_22108803_ChIP-Seq_LS180_Human1.08984417
73SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.05966176
74SPI1_23547873_ChIP-Seq_NB4_Human1.05833189
75EZH2_22144423_ChIP-Seq_EOC_Human1.05486816
76CDX2_22108803_ChIP-Seq_LS180_Human1.04423826
77MYC_18940864_ChIP-ChIP_HL60_Human1.03687439
78MYB_21317192_ChIP-Seq_ERMYB_Mouse1.02261737
79AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.01656283
80GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.01574232
81FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.00655051
82PADI4_21655091_ChIP-ChIP_MCF-7_Human1.00205983
83PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.99087035
84MYB_26560356_Chip-Seq_TH2_Human0.98917192
85MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.96453207
86PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.95280809
87PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.94233784
88JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.93937978
89NANOG_20526341_ChIP-Seq_ESCs_Human0.93464621
90FOXA1_21572438_ChIP-Seq_LNCaP_Human0.93157751
91OCT4_21477851_ChIP-Seq_ESCs_Mouse0.93066102
92CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.92758872
93ERG_20517297_ChIP-Seq_VCAP_Human0.91228282
94ETS1_20019798_ChIP-Seq_JURKAT_Human0.91091992
95PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.90959699
96TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90795383
97POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.90795383
98TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.90746338
99MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.87824800
100CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.87739911

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005464_abnormal_platelet_physiology6.78846532
2MP0008004_abnormal_stomach_pH3.38243380
3MP0003724_increased_susceptibility_to3.04289519
4MP0009697_abnormal_copulation2.96770501
5MP0008877_abnormal_DNA_methylation2.77695996
6MP0003718_maternal_effect2.77396489
7MP0008057_abnormal_DNA_replication2.49344137
8MP0002736_abnormal_nociception_after2.13943274
9MP0005075_abnormal_melanosome_morpholog2.13728432
10MP0001835_abnormal_antigen_presentation2.10267282
11MP0000372_irregular_coat_pigmentation2.10170683
12MP0000015_abnormal_ear_pigmentation2.06982222
13MP0002102_abnormal_ear_morphology2.02108825
14MP0000465_gastrointestinal_hemorrhage1.99856863
15MP0008058_abnormal_DNA_repair1.93854274
16MP0005167_abnormal_blood-brain_barrier1.93755595
17MP0002148_abnormal_hypersensitivity_rea1.90464938
18MP0005410_abnormal_fertilization1.90463351
19MP0001968_abnormal_touch/_nociception1.84469461
20MP0008872_abnormal_physiological_respon1.84019531
21MP0006036_abnormal_mitochondrial_physio1.77610896
22MP0005083_abnormal_biliary_tract1.77168977
23MP0005084_abnormal_gallbladder_morpholo1.71875871
24MP0006035_abnormal_mitochondrial_morpho1.62346319
25MP0003136_yellow_coat_color1.60077209
26MP0000230_abnormal_systemic_arterial1.59735363
27MP0004381_abnormal_hair_follicle1.56829810
28MP0003806_abnormal_nucleotide_metabolis1.52964103
29MP0005670_abnormal_white_adipose1.51598217
30MP0005174_abnormal_tail_pigmentation1.50579210
31MP0006054_spinal_hemorrhage1.47462739
32MP0009333_abnormal_splenocyte_physiolog1.45656122
33MP0005646_abnormal_pituitary_gland1.44380860
34MP0004147_increased_porphyrin_level1.44256643
35MP0004084_abnormal_cardiac_muscle1.43493406
36MP0010094_abnormal_chromosome_stability1.42228269
37MP0002132_abnormal_respiratory_system1.37350492
38MP0005085_abnormal_gallbladder_physiolo1.34986944
39MP0002398_abnormal_bone_marrow1.34617019
40MP0008775_abnormal_heart_ventricle1.33996023
41MP0003252_abnormal_bile_duct1.28520360
42MP0002138_abnormal_hepatobiliary_system1.26726198
43MP0005551_abnormal_eye_electrophysiolog1.26630349
44MP0004142_abnormal_muscle_tone1.26127109
45MP0000689_abnormal_spleen_morphology1.25344710
46MP0000343_altered_response_to1.24557260
47MP0005671_abnormal_response_to1.23755790
48MP0003656_abnormal_erythrocyte_physiolo1.21016047
49MP0005397_hematopoietic_system_phenotyp1.17867523
50MP0001545_abnormal_hematopoietic_system1.17867523
51MP0008932_abnormal_embryonic_tissue1.13586859
52MP0003186_abnormal_redox_activity1.12155769
53MP0005645_abnormal_hypothalamus_physiol1.10809835
54MP0009764_decreased_sensitivity_to1.08822657
55MP0003638_abnormal_response/metabolism_1.08262563
56MP0002723_abnormal_immune_serum1.06747631
57MP0004957_abnormal_blastocyst_morpholog1.06155115
58MP0005000_abnormal_immune_tolerance1.05928419
59MP0002095_abnormal_skin_pigmentation1.05377764
60MP0000358_abnormal_cell_content/1.04647366
61MP0004215_abnormal_myocardial_fiber1.03906139
62MP0006276_abnormal_autonomic_nervous1.03301345
63MP0002452_abnormal_antigen_presenting1.01193448
64MP0001800_abnormal_humoral_immune1.01130847
65MP0002722_abnormal_immune_system0.99295989
66MP0003787_abnormal_imprinting0.99077493
67MP0002429_abnormal_blood_cell0.98057647
68MP0002420_abnormal_adaptive_immunity0.89664513
69MP0001929_abnormal_gametogenesis0.89039890
70MP0008875_abnormal_xenobiotic_pharmacok0.88189778
71MP0001819_abnormal_immune_cell0.88140423
72MP0005501_abnormal_skin_physiology0.85777184
73MP0002019_abnormal_tumor_incidence0.85729657
74MP0009765_abnormal_xenobiotic_induced0.85128391
75MP0000703_abnormal_thymus_morphology0.85026774
76MP0003950_abnormal_plasma_membrane0.84777901
77MP0000716_abnormal_immune_system0.83488699
78MP0001664_abnormal_digestion0.82930128
79MP0003111_abnormal_nucleus_morphology0.80760992
80MP0010155_abnormal_intestine_physiology0.79406269
81MP0009763_increased_sensitivity_to0.78606444
82MP0003077_abnormal_cell_cycle0.78076865
83MP0004130_abnormal_muscle_cell0.77466022
84MP0003183_abnormal_peptide_metabolism0.76511012
85MP0000383_abnormal_hair_follicle0.76283914
86MP0000653_abnormal_sex_gland0.76090276
87MP0002210_abnormal_sex_determination0.74455311
88MP0005171_absent_coat_pigmentation0.73922590
89MP0003698_abnormal_male_reproductive0.73136565
90MP0003195_calcinosis0.72764689
91MP0003786_premature_aging0.71592268
92MP0009785_altered_susceptibility_to0.71125597
93MP0009642_abnormal_blood_homeostasis0.67695915
94MP0002733_abnormal_thermal_nociception0.67657761
95MP0005395_other_phenotype0.67305855
96MP0001485_abnormal_pinna_reflex0.66346774
97MP0001764_abnormal_homeostasis0.65042841
98MP0000569_abnormal_digit_pigmentation0.64789252
99MP0001845_abnormal_inflammatory_respons0.62761463
100MP0003866_abnormal_defecation0.61834396

Predicted human phenotypes

RankGene SetZ-score
1Prolonged bleeding time (HP:0003010)7.80435768
2Increased mean platelet volume (HP:0011877)7.03910713
3Petechiae (HP:0000967)6.65155762
4Abnormal platelet volume (HP:0011876)6.55462351
5Menorrhagia (HP:0000132)6.49938263
6Purpura (HP:0000979)5.41008418
7Epistaxis (HP:0000421)4.95658754
8Gingival bleeding (HP:0000225)4.21816583
9Hyperlipoproteinemia (HP:0010980)3.67896038
10Abnormal platelet function (HP:0011869)3.55499860
11Impaired platelet aggregation (HP:0003540)3.55499860
12Dyschromatopsia (HP:0007641)3.20240745
13Abnormality of alanine metabolism (HP:0010916)3.12705786
14Hyperalaninemia (HP:0003348)3.12705786
15Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.12705786
163-Methylglutaconic aciduria (HP:0003535)3.12634862
17Poikilocytosis (HP:0004447)2.88485112
18Abnormality of lateral ventricle (HP:0030047)2.88261391
19Generalized aminoaciduria (HP:0002909)2.85255037
20Spontaneous hematomas (HP:0007420)2.79403272
21Abnormal auditory evoked potentials (HP:0006958)2.75318256
22Conjunctival telangiectasia (HP:0000524)2.72152807
23Decreased central vision (HP:0007663)2.68860022
24Thyroid-stimulating hormone excess (HP:0002925)2.64791900
25Abnormality of the vasculature of the conjunctiva (HP:0008054)2.63433429
26Paralysis (HP:0003470)2.55375024
27Abnormal pupillary function (HP:0007686)2.46104237
28Abnormality of the heme biosynthetic pathway (HP:0010472)2.43781498
29Hypophosphatemic rickets (HP:0004912)2.33284563
30Acanthocytosis (HP:0001927)2.31402918
31Biliary tract neoplasm (HP:0100574)2.23079212
32Increased density of long bones (HP:0006392)2.18657649
33Nausea (HP:0002018)2.15701256
34Abolished electroretinogram (ERG) (HP:0000550)2.11462466
35Chromosomal breakage induced by crosslinking agents (HP:0003221)2.09897299
36Attenuation of retinal blood vessels (HP:0007843)2.09130291
37Bruising susceptibility (HP:0000978)2.08924709
38Hepatosplenomegaly (HP:0001433)2.03545290
39Central scotoma (HP:0000603)2.02670356
40Acute necrotizing encephalopathy (HP:0006965)2.01270947
41Chromsome breakage (HP:0040012)1.98446467
42Tinnitus (HP:0000360)1.97203582
43Autoimmune hemolytic anemia (HP:0001890)1.96798836
44Abnormality of the prostate (HP:0008775)1.95632004
45Acute encephalopathy (HP:0006846)1.95468844
46Aplastic anemia (HP:0001915)1.94146457
47Congenital stationary night blindness (HP:0007642)1.94111003
48Hypoproteinemia (HP:0003075)1.90618244
49Encephalitis (HP:0002383)1.90394085
50Metaphyseal dysplasia (HP:0100255)1.90144077
51Pendular nystagmus (HP:0012043)1.85671801
52Stomatitis (HP:0010280)1.85451889
53Congenital sensorineural hearing impairment (HP:0008527)1.84250685
54Increased CSF lactate (HP:0002490)1.83858532
55Renal cortical cysts (HP:0000803)1.82984529
56Elevated erythrocyte sedimentation rate (HP:0003565)1.80753104
57Male infertility (HP:0003251)1.80307315
58Hepatic necrosis (HP:0002605)1.79466468
59Abnormal spermatogenesis (HP:0008669)1.79028897
60Gaze-evoked nystagmus (HP:0000640)1.78208192
61Abnormality of the common coagulation pathway (HP:0010990)1.78125869
62Pancreatic cysts (HP:0001737)1.75545671
63Chronic otitis media (HP:0000389)1.75463900
64Mitochondrial inheritance (HP:0001427)1.74220725
65Pancytopenia (HP:0001876)1.73791620
66Aplasia/Hypoplasia of the fovea (HP:0008060)1.73493075
67Hypoplasia of the fovea (HP:0007750)1.73493075
68Upper limb muscle weakness (HP:0003484)1.73025090
69Abnormal mitochondria in muscle tissue (HP:0008316)1.72714948
70Exertional dyspnea (HP:0002875)1.71843321
71Myelodysplasia (HP:0002863)1.70689345
72Progressive macrocephaly (HP:0004481)1.69843804
73Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.69809710
74Abnormality of DNA repair (HP:0003254)1.69007568
75Abnormality of the renal cortex (HP:0011035)1.68987962
76Arterial thrombosis (HP:0004420)1.68374505
77Absent rod-and cone-mediated responses on ERG (HP:0007688)1.67913024
78Pancreatic islet-cell hyperplasia (HP:0004510)1.67300009
79Optic nerve hypoplasia (HP:0000609)1.66668275
80Median cleft lip (HP:0000161)1.66657901
81Renal Fanconi syndrome (HP:0001994)1.65841523
82Abnormality of chromosome stability (HP:0003220)1.65834476
83Papillary thyroid carcinoma (HP:0002895)1.65571216
84Pancreatic fibrosis (HP:0100732)1.64048220
85Increased IgM level (HP:0003496)1.61717526
86Spontaneous abortion (HP:0005268)1.61524792
87Panhypogammaglobulinemia (HP:0003139)1.59908627
88Methylmalonic aciduria (HP:0012120)1.59869373
89Decreased activity of mitochondrial respiratory chain (HP:0008972)1.59230706
90Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.59230706
91Type II lissencephaly (HP:0007260)1.58791960
92Aplasia/Hypoplasia of the uvula (HP:0010293)1.56108323
93Abnormality of macular pigmentation (HP:0008002)1.55396189
94Abnormality of the renal collecting system (HP:0004742)1.55046086
95Abnormality of the fovea (HP:0000493)1.54620938
96Abnormality of midbrain morphology (HP:0002418)1.54141626
97Molar tooth sign on MRI (HP:0002419)1.54141626
98IgG deficiency (HP:0004315)1.54070186
99Medial flaring of the eyebrow (HP:0010747)1.53373461
100Increased serum lactate (HP:0002151)1.53212684

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST45.20878120
2EIF2AK13.78766152
3NUAK13.46662168
4TEC2.84595158
5ADRBK22.78854435
6FRK2.60024019
7ACVR1B2.22651972
8STK162.13754079
9BRSK22.04357794
10TAOK31.95177474
11TXK1.93201174
12ZAK1.88061693
13RIPK41.84177116
14MYLK1.84166542
15VRK21.71477877
16PLK21.70975538
17STK31.70886732
18BMX1.70237902
19CSF1R1.69695395
20GRK51.64968134
21BTK1.60336130
22MAP3K121.59645241
23PTK2B1.56999249
24ARAF1.53353183
25PIK3CG1.46704646
26MAP4K21.44355055
27MAPKAPK31.41828190
28EIF2AK31.40692745
29SYK1.34588492
30TRIM281.26230512
31MARK31.19015675
32FGR1.13732794
33GRK11.13176092
34PLK31.13088867
35ILK1.11659529
36BMPR1B1.11560212
37PIM21.11338340
38ADRBK11.10471035
39SIK31.09472156
40OXSR11.07180833
41IRAK11.00104193
42STK390.98611884
43INSRR0.98421916
44VRK10.91591240
45MKNK10.91077468
46TAF10.90643014
47IKBKB0.89061968
48BMPR20.88787883
49WNK30.85760029
50STK40.80603790
51LYN0.80492807
52ITK0.77987852
53PBK0.75141332
54DYRK30.73174310
55PLK40.72160901
56TNIK0.71931330
57MATK0.70950999
58PAK10.70847039
59MKNK20.70371234
60GRK60.68293387
61BUB10.68095996
62NLK0.64197355
63DYRK20.63640100
64MAP3K50.63184079
65DAPK10.62786938
66CDC70.62018851
67FER0.61056069
68TTK0.60105099
69STK240.60029605
70CSNK1G30.60006674
71FLT30.59843641
72CCNB10.59208083
73TIE10.57857177
74MAP4K10.55419004
75DAPK30.54088505
76CAMKK20.53891050
77FES0.53779204
78LATS10.52107329
79CDK190.50328880
80CSNK1G10.50249596
81RAF10.50011602
82BRAF0.48222796
83PRKCQ0.47660102
84TNK20.47635322
85HCK0.44414835
86PRKCE0.44129461
87ZAP700.44059957
88PRKCI0.42627418
89CSNK1G20.38537234
90KDR0.38410788
91PIM10.38214449
92BRSK10.37530555
93PLK10.37091703
94WEE10.37079692
95WNK40.35784776
96TLK10.35412849
97LCK0.34211230
98CHEK20.34195343
99MAPK130.32191726
100ATR0.32023692

Predicted pathways (KEGG)

RankGene SetZ-score
1Mismatch repair_Homo sapiens_hsa034303.78563650
2Platelet activation_Homo sapiens_hsa046113.47094089
3Proteasome_Homo sapiens_hsa030503.08044070
4Homologous recombination_Homo sapiens_hsa034402.89258429
5SNARE interactions in vesicular transport_Homo sapiens_hsa041302.75111897
6Fatty acid elongation_Homo sapiens_hsa000622.72328941
7Nitrogen metabolism_Homo sapiens_hsa009102.47310736
8Pathogenic Escherichia coli infection_Homo sapiens_hsa051302.27908522
9Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.24613817
10Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007602.18529567
11Basal transcription factors_Homo sapiens_hsa030222.18433436
12Nucleotide excision repair_Homo sapiens_hsa034202.15108142
13Arachidonic acid metabolism_Homo sapiens_hsa005902.10561995
14DNA replication_Homo sapiens_hsa030302.04559964
15Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.98750138
16Fanconi anemia pathway_Homo sapiens_hsa034601.80757835
17Phototransduction_Homo sapiens_hsa047441.79595559
18alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.78952079
19Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.76813965
20Linoleic acid metabolism_Homo sapiens_hsa005911.73062540
21One carbon pool by folate_Homo sapiens_hsa006701.67381883
22RNA polymerase_Homo sapiens_hsa030201.60939173
23Hematopoietic cell lineage_Homo sapiens_hsa046401.60391530
24Parkinsons disease_Homo sapiens_hsa050121.51015308
25Pyrimidine metabolism_Homo sapiens_hsa002401.48626942
26Glutathione metabolism_Homo sapiens_hsa004801.41904897
27Base excision repair_Homo sapiens_hsa034101.41838187
28Primary immunodeficiency_Homo sapiens_hsa053401.40875909
29Purine metabolism_Homo sapiens_hsa002301.40757069
30Olfactory transduction_Homo sapiens_hsa047401.32236941
31Oxidative phosphorylation_Homo sapiens_hsa001901.25924287
32Glycerolipid metabolism_Homo sapiens_hsa005611.22573627
33Serotonergic synapse_Homo sapiens_hsa047261.20497866
34Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.16329360
35Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.15132507
36Cell cycle_Homo sapiens_hsa041101.14706624
37Systemic lupus erythematosus_Homo sapiens_hsa053221.12872583
38Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.07719068
39Ether lipid metabolism_Homo sapiens_hsa005651.04370339
40Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.02527563
41Cysteine and methionine metabolism_Homo sapiens_hsa002701.02361127
42Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.95542381
43Steroid hormone biosynthesis_Homo sapiens_hsa001400.92434465
44RNA degradation_Homo sapiens_hsa030180.91532080
45Regulation of autophagy_Homo sapiens_hsa041400.90685211
46Chemokine signaling pathway_Homo sapiens_hsa040620.88286740
47Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.86244547
48Primary bile acid biosynthesis_Homo sapiens_hsa001200.83710605
49p53 signaling pathway_Homo sapiens_hsa041150.83619190
50Starch and sucrose metabolism_Homo sapiens_hsa005000.82996124
51Sulfur metabolism_Homo sapiens_hsa009200.78767120
52Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.76519072
53RNA transport_Homo sapiens_hsa030130.75935976
54Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.75272519
55Collecting duct acid secretion_Homo sapiens_hsa049660.75041313
56Morphine addiction_Homo sapiens_hsa050320.74844428
57Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.74400750
58Chemical carcinogenesis_Homo sapiens_hsa052040.73160372
59Glycerophospholipid metabolism_Homo sapiens_hsa005640.72890051
60Alcoholism_Homo sapiens_hsa050340.72456400
61Long-term depression_Homo sapiens_hsa047300.70985705
62Vascular smooth muscle contraction_Homo sapiens_hsa042700.70110443
63Huntingtons disease_Homo sapiens_hsa050160.69268557
64Propanoate metabolism_Homo sapiens_hsa006400.68401231
65Pentose and glucuronate interconversions_Homo sapiens_hsa000400.67699984
66Non-homologous end-joining_Homo sapiens_hsa034500.63820346
67Protein export_Homo sapiens_hsa030600.63281314
68Drug metabolism - other enzymes_Homo sapiens_hsa009830.62817509
69Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.57355091
70Asthma_Homo sapiens_hsa053100.55293453
71Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.55164527
72beta-Alanine metabolism_Homo sapiens_hsa004100.54006001
73Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.53957051
74Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.51497495
75Metabolic pathways_Homo sapiens_hsa011000.51419853
76Shigellosis_Homo sapiens_hsa051310.50917787
77Alzheimers disease_Homo sapiens_hsa050100.49849379
78ECM-receptor interaction_Homo sapiens_hsa045120.48880548
79Legionellosis_Homo sapiens_hsa051340.47763674
80Retinol metabolism_Homo sapiens_hsa008300.46531265
81Caffeine metabolism_Homo sapiens_hsa002320.45369334
82Pancreatic secretion_Homo sapiens_hsa049720.44948879
83Ovarian steroidogenesis_Homo sapiens_hsa049130.43154396
84Fat digestion and absorption_Homo sapiens_hsa049750.43138832
85Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.42761271
86Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.40218233
87Pentose phosphate pathway_Homo sapiens_hsa000300.39997328
88Malaria_Homo sapiens_hsa051440.39163580
89Intestinal immune network for IgA production_Homo sapiens_hsa046720.37317097
90Steroid biosynthesis_Homo sapiens_hsa001000.35756156
91Galactose metabolism_Homo sapiens_hsa000520.35355375
92Viral carcinogenesis_Homo sapiens_hsa052030.33782257
93RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.33755141
94Arginine and proline metabolism_Homo sapiens_hsa003300.30578332
95Peroxisome_Homo sapiens_hsa041460.30330052
96ABC transporters_Homo sapiens_hsa020100.29863033
97Gap junction_Homo sapiens_hsa045400.29635569
98Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.29025554
99NOD-like receptor signaling pathway_Homo sapiens_hsa046210.27869353
100Oocyte meiosis_Homo sapiens_hsa041140.27801573

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