RPSAP40

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
1negative regulation of execution phase of apoptosis (GO:1900118)9.20864386
2ribonucleoprotein complex disassembly (GO:0032988)7.59741816
3positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)7.14840673
4organelle disassembly (GO:1903008)6.98292549
5glycerophospholipid catabolic process (GO:0046475)6.78946221
6cytolysis (GO:0019835)6.33125766
7GTP biosynthetic process (GO:0006183)6.15053999
8regulation of isotype switching to IgG isotypes (GO:0048302)6.09787382
9regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)5.94429296
10parturition (GO:0007567)5.57292642
11protein prenylation (GO:0018342)5.57098666
12prenylation (GO:0097354)5.57098666
13GDP-mannose metabolic process (GO:0019673)5.45929737
14UTP biosynthetic process (GO:0006228)5.29447218
15behavioral response to nicotine (GO:0035095)5.11435401
16L-fucose catabolic process (GO:0042355)5.07685540
17fucose catabolic process (GO:0019317)5.07685540
18L-fucose metabolic process (GO:0042354)5.07685540
19positive regulation of cAMP-mediated signaling (GO:0043950)5.04010443
20phosphatidylserine acyl-chain remodeling (GO:0036150)4.79209804
21signal peptide processing (GO:0006465)4.73765385
22UTP metabolic process (GO:0046051)4.70056780
23T cell migration (GO:0072678)4.68784427
24platelet dense granule organization (GO:0060155)4.66363474
25DNA deamination (GO:0045006)4.64609674
26negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)4.40246299
27cytidine catabolic process (GO:0006216)4.33098220
28cytidine deamination (GO:0009972)4.33098220
29cytidine metabolic process (GO:0046087)4.33098220
30detection of light stimulus involved in sensory perception (GO:0050962)4.31091018
31detection of light stimulus involved in visual perception (GO:0050908)4.31091018
32positive regulation of isotype switching (GO:0045830)4.27575887
33ribosomal small subunit assembly (GO:0000028)4.16443327
34regulation of regulatory T cell differentiation (GO:0045589)4.10208303
35negative regulation of B cell apoptotic process (GO:0002903)4.09381749
36positive regulation of interleukin-17 production (GO:0032740)4.05865126
37pyrimidine ribonucleoside catabolic process (GO:0046133)4.01620670
38nucleoside diphosphate phosphorylation (GO:0006165)4.01158811
39phosphatidylglycerol acyl-chain remodeling (GO:0036148)3.96117710
40CTP metabolic process (GO:0046036)3.93525145
41CTP biosynthetic process (GO:0006241)3.93525145
42regulation of execution phase of apoptosis (GO:1900117)3.90599708
43guanosine-containing compound biosynthetic process (GO:1901070)3.86857704
44positive regulation of DNA recombination (GO:0045911)3.68019509
45synaptic transmission, cholinergic (GO:0007271)3.66973991
46facial nerve structural organization (GO:0021612)3.62313693
47protein refolding (GO:0042026)3.50402405
48pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)3.44005185
49coenzyme A biosynthetic process (GO:0015937)3.42294933
50tryptophan catabolic process (GO:0006569)3.40641303
51indole-containing compound catabolic process (GO:0042436)3.40641303
52indolalkylamine catabolic process (GO:0046218)3.40641303
53regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.35472264
54pyrimidine ribonucleotide biosynthetic process (GO:0009220)3.34535752
55phosphatidylethanolamine acyl-chain remodeling (GO:0036152)3.34501772
56regulation of metalloenzyme activity (GO:0048552)3.31427503
57regulation of activation of Janus kinase activity (GO:0010533)3.31169673
58pyrimidine ribonucleoside metabolic process (GO:0046131)3.29335597
59phospholipid catabolic process (GO:0009395)3.27786759
60pyrimidine ribonucleoside biosynthetic process (GO:0046132)3.25675748
61phosphatidylcholine acyl-chain remodeling (GO:0036151)3.21690342
62lymphocyte chemotaxis (GO:0048247)3.19870001
63coenzyme A metabolic process (GO:0015936)3.18982320
64fucose metabolic process (GO:0006004)3.14905790
65nucleoside diphosphate catabolic process (GO:0009134)3.12190330
66regulation of immunoglobulin secretion (GO:0051023)3.11993067
67pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)3.10003916
68sleep (GO:0030431)3.06952492
69pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.05640968
70pyrimidine ribonucleotide metabolic process (GO:0009218)3.04079762
71negative regulation of chemokine production (GO:0032682)3.04027183
72nucleotide-sugar biosynthetic process (GO:0009226)3.00244627
73cobalamin metabolic process (GO:0009235)2.99051214
74negative regulation of phagocytosis (GO:0050765)2.98079500
75regulation of T cell receptor signaling pathway (GO:0050856)2.97412207
76protein deneddylation (GO:0000338)2.95956449
77regulation of cAMP-mediated signaling (GO:0043949)2.94565203
78positive regulation of action potential (GO:0045760)2.94151115
79cellular ketone body metabolic process (GO:0046950)2.90611174
80indolalkylamine metabolic process (GO:0006586)2.89558855
81phasic smooth muscle contraction (GO:0014821)2.88833906
82nucleoside diphosphate metabolic process (GO:0009132)2.88220626
83ketone body metabolic process (GO:1902224)2.86980558
84seminiferous tubule development (GO:0072520)2.86669348
85kynurenine metabolic process (GO:0070189)2.83087300
86positive regulation of protein targeting to membrane (GO:0090314)2.81086645
87regulation of tyrosine phosphorylation of STAT protein (GO:0042509)2.81069006
88negative regulation of lymphocyte apoptotic process (GO:0070229)2.80991924
89tryptophan metabolic process (GO:0006568)2.80957880
90mannose metabolic process (GO:0006013)2.79158455
91negative regulation of T cell receptor signaling pathway (GO:0050860)2.78185719
92chemokine-mediated signaling pathway (GO:0070098)2.78166930
93pyrimidine nucleoside catabolic process (GO:0046135)2.76961930
94negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.74659977
95pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.74017725
96regulation of nuclear cell cycle DNA replication (GO:0033262)2.71169594
97positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)2.70497543
98synaptic transmission, dopaminergic (GO:0001963)2.67347671
99positive regulation of immunoglobulin mediated immune response (GO:0002891)2.66207106
100positive regulation of B cell mediated immunity (GO:0002714)2.66207106

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.88016190
2VDR_22108803_ChIP-Seq_LS180_Human3.41979203
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.18364642
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.18051136
5GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.98431993
6NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.97837535
7GABP_17652178_ChIP-ChIP_JURKAT_Human2.97787677
8IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.77651743
9EST1_17652178_ChIP-ChIP_JURKAT_Human2.52408648
10HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.44948921
11TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.26691791
12STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.19882882
13POU5F1_18358816_ChIP-ChIP_MESCs_Mouse2.16074525
14JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.10453939
15IKZF1_21737484_ChIP-ChIP_HCT116_Human2.03610472
16SRY_22984422_ChIP-ChIP_TESTIS_Rat2.02443154
17ETS1_20019798_ChIP-Seq_JURKAT_Human2.02122743
18IGF1R_20145208_ChIP-Seq_DFB_Human1.98793398
19P300_19829295_ChIP-Seq_ESCs_Human1.92390357
20IRF8_21731497_ChIP-ChIP_J774_Mouse1.92314206
21BCAT_22108803_ChIP-Seq_LS180_Human1.81729016
22MYC_18940864_ChIP-ChIP_HL60_Human1.80035867
23VDR_23849224_ChIP-Seq_CD4+_Human1.71922024
24CTBP2_25329375_ChIP-Seq_LNCAP_Human1.69469316
25YY1_21170310_ChIP-Seq_MESCs_Mouse1.69036169
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.67263083
27ZFP57_27257070_Chip-Seq_ESCs_Mouse1.59820417
28NCOR_22424771_ChIP-Seq_293T_Human1.59388867
29ELK1_19687146_ChIP-ChIP_HELA_Human1.58896983
30NOTCH1_21737748_ChIP-Seq_TLL_Human1.56992250
31VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.56293088
32MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.52675426
33PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.52402893
34CTBP1_25329375_ChIP-Seq_LNCAP_Human1.51301749
35PCGF2_27294783_Chip-Seq_NPCs_Mouse1.50771769
36MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.48912532
37FOXP3_21729870_ChIP-Seq_TREG_Human1.48898477
38IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.43717305
39SRF_21415370_ChIP-Seq_HL-1_Mouse1.39551594
40FOXA1_21572438_ChIP-Seq_LNCaP_Human1.38401187
41SOX2_19829295_ChIP-Seq_ESCs_Human1.33617784
42NANOG_19829295_ChIP-Seq_ESCs_Human1.33617784
43MYC_19829295_ChIP-Seq_ESCs_Human1.33094336
44YY1_22570637_ChIP-Seq_MALME-3M_Human1.33005373
45ZNF274_21170338_ChIP-Seq_K562_Hela1.30441755
46FLI1_27457419_Chip-Seq_LIVER_Mouse1.30378031
47FOXA1_25329375_ChIP-Seq_VCAP_Human1.29737120
48FOXA1_27270436_Chip-Seq_PROSTATE_Human1.29737120
49UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.29268046
50GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.26140088
51GATA3_26560356_Chip-Seq_TH2_Human1.23305596
52TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22372000
53POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.22372000
54TCF4_22108803_ChIP-Seq_LS180_Human1.22116109
55BMI1_23680149_ChIP-Seq_NPCS_Mouse1.21713769
56BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.21590136
57PCGF2_27294783_Chip-Seq_ESCs_Mouse1.21317963
58PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.21244788
59TP53_22573176_ChIP-Seq_HFKS_Human1.19547783
60MYB_26560356_Chip-Seq_TH1_Human1.18971090
61TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human1.16902075
62TAF2_19829295_ChIP-Seq_ESCs_Human1.14446097
63GATA3_21878914_ChIP-Seq_MCF-7_Human1.13744942
64RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.13190823
65EZH2_22144423_ChIP-Seq_EOC_Human1.12766527
66PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.12524484
67CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.12408913
68FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.10776759
69LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.09331539
70TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.07679661
71BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.07189374
72ERG_20517297_ChIP-Seq_VCAP_Human1.07126841
73SUZ12_27294783_Chip-Seq_NPCs_Mouse1.06681342
74PRDM14_20953172_ChIP-Seq_ESCs_Human1.06104272
75JARID2_20064375_ChIP-Seq_MESCs_Mouse1.05932358
76EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.04879874
77ERA_21632823_ChIP-Seq_H3396_Human1.04641961
78EGR1_23403033_ChIP-Seq_LIVER_Mouse1.04492171
79GBX2_23144817_ChIP-Seq_PC3_Human1.03393349
80EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.97245379
81CREB1_15753290_ChIP-ChIP_HEK293T_Human0.96827985
82HOXB7_26014856_ChIP-Seq_BT474_Human0.96254665
83THAP11_20581084_ChIP-Seq_MESCs_Mouse0.95932115
84BCL6_27268052_Chip-Seq_Bcells_Human0.95626633
85SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.95413166
86TAL1_26923725_Chip-Seq_HPCs_Mouse0.95327237
87IRF8_22096565_ChIP-ChIP_GC-B_Human0.93576390
88EZH2_27294783_Chip-Seq_ESCs_Mouse0.93282771
89PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.93005541
90SOX2_21211035_ChIP-Seq_LN229_Human0.92910524
91CBP_20019798_ChIP-Seq_JUKART_Human0.91600192
92IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.91600192
93CEBPB_22108803_ChIP-Seq_LS180_Human0.87213064
94NR3C1_23031785_ChIP-Seq_PC12_Mouse0.86363394
95FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.85769958
96NANOG_20526341_ChIP-Seq_ESCs_Human0.84965140
97NFE2_27457419_Chip-Seq_LIVER_Mouse0.84491166
98RBPJ_21746931_ChIP-Seq_IB4_Human0.84482655
99TAF15_26573619_Chip-Seq_HEK293_Human0.83899098
100AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83471427

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005451_abnormal_body_composition4.40905864
2MP0004885_abnormal_endolymph4.02673881
3MP0005671_abnormal_response_to3.98336572
4MP0001986_abnormal_taste_sensitivity3.49710405
5MP0003045_fibrosis3.44161200
6MP0001853_heart_inflammation3.16783403
7MP0003300_gastrointestinal_ulcer3.06620450
8MP0005377_hearing/vestibular/ear_phenot3.04096623
9MP0003878_abnormal_ear_physiology3.04096623
10MP0003195_calcinosis2.73948655
11MP0003879_abnormal_hair_cell2.70277538
12MP0003136_yellow_coat_color2.69645151
13MP0010368_abnormal_lymphatic_system2.56813969
14MP0004510_myositis2.51529792
15MP0009785_altered_susceptibility_to2.43942338
16MP0001529_abnormal_vocalization2.38512974
17MP0000372_irregular_coat_pigmentation2.33231325
18MP0001485_abnormal_pinna_reflex2.20732588
19MP0002102_abnormal_ear_morphology1.99855934
20MP0001835_abnormal_antigen_presentation1.97925704
21MP0005171_absent_coat_pigmentation1.92022273
22MP0005379_endocrine/exocrine_gland_phen1.85879196
23MP0003718_maternal_effect1.85779892
24MP0000604_amyloidosis1.80951601
25MP0002089_abnormal_postnatal_growth/wei1.79870169
26MP0000371_diluted_coat_color1.75289821
27MP0005165_increased_susceptibility_to1.63122744
28MP0004145_abnormal_muscle_electrophysio1.57663594
29MP0010386_abnormal_urinary_bladder1.56856034
30MP0002234_abnormal_pharynx_morphology1.54098455
31MP0005551_abnormal_eye_electrophysiolog1.54052973
32MP0005360_urolithiasis1.50781719
33MP0005395_other_phenotype1.48979220
34MP0002168_other_aberrant_phenotype1.42546772
35MP0003786_premature_aging1.39628790
36MP0002735_abnormal_chemical_nociception1.36728865
37MP0005025_abnormal_response_to1.36316361
38MP0002095_abnormal_skin_pigmentation1.33312450
39MP0005310_abnormal_salivary_gland1.32468411
40MP0000465_gastrointestinal_hemorrhage1.29133159
41MP0002163_abnormal_gland_morphology1.27124031
42MP0002733_abnormal_thermal_nociception1.27123935
43MP0008872_abnormal_physiological_respon1.20798527
44MP0006072_abnormal_retinal_apoptosis1.12012298
45MP0001486_abnormal_startle_reflex1.11586963
46MP0002751_abnormal_autonomic_nervous1.09920881
47MP0000538_abnormal_urinary_bladder1.07925433
48MP0005332_abnormal_amino_acid1.06921144
49MP0002075_abnormal_coat/hair_pigmentati1.03872477
50MP0005166_decreased_susceptibility_to1.02536684
51MP0002138_abnormal_hepatobiliary_system0.99664860
52MP0005075_abnormal_melanosome_morpholog0.99241741
53MP0005408_hypopigmentation0.97464685
54MP0001970_abnormal_pain_threshold0.96785915
55MP0000049_abnormal_middle_ear0.96547464
56MP0008875_abnormal_xenobiotic_pharmacok0.96345519
57MP0005645_abnormal_hypothalamus_physiol0.95725587
58MP0005174_abnormal_tail_pigmentation0.93390389
59MP0001186_pigmentation_phenotype0.93104222
60MP0006292_abnormal_olfactory_placode0.89527541
61MP0000026_abnormal_inner_ear0.89125375
62MP0004484_altered_response_of0.88467764
63MP0005595_abnormal_vascular_smooth0.88379006
64MP0001968_abnormal_touch/_nociception0.85311288
65MP0002693_abnormal_pancreas_physiology0.83563479
66MP0002837_dystrophic_cardiac_calcinosis0.83043630
67MP0002148_abnormal_hypersensitivity_rea0.80410560
68MP0003866_abnormal_defecation0.78659318
69MP0003646_muscle_fatigue0.77520409
70MP0009745_abnormal_behavioral_response0.75745599
71MP0002272_abnormal_nervous_system0.75715643
72MP0002876_abnormal_thyroid_physiology0.75153714
73MP0001664_abnormal_digestion0.75114680
74MP0000613_abnormal_salivary_gland0.74976571
75MP0001440_abnormal_grooming_behavior0.72487767
76MP0002938_white_spotting0.71934031
77MP0008469_abnormal_protein_level0.71130796
78MP0001765_abnormal_ion_homeostasis0.70926507
79MP0001963_abnormal_hearing_physiology0.70034695
80MP0004742_abnormal_vestibular_system0.69491916
81MP0004142_abnormal_muscle_tone0.68302141
82MP0003448_altered_tumor_morphology0.67255707
83MP0008961_abnormal_basal_metabolism0.67159251
84MP0001879_abnormal_lymphatic_vessel0.66624218
85MP0001958_emphysema0.64446732
86MP0002090_abnormal_vision0.64006097
87MP0002166_altered_tumor_susceptibility0.63270708
88MP0003186_abnormal_redox_activity0.62713965
89MP0000427_abnormal_hair_cycle0.62027777
90MP0005167_abnormal_blood-brain_barrier0.60963024
91MP0000428_abnormal_craniofacial_morphol0.60945609
92MP0005636_abnormal_mineral_homeostasis0.60734543
93MP0005253_abnormal_eye_physiology0.60577048
94MP0001501_abnormal_sleep_pattern0.60203866
95MP0003890_abnormal_embryonic-extraembry0.59749832
96MP0001293_anophthalmia0.59309643
97MP0004019_abnormal_vitamin_homeostasis0.59229689
98MP0001764_abnormal_homeostasis0.58843720
99MP0000015_abnormal_ear_pigmentation0.58507606
100MP0003137_abnormal_impulse_conducting0.58484266

Predicted human phenotypes

RankGene SetZ-score
1Aplastic anemia (HP:0001915)8.15448180
2Homocystinuria (HP:0002156)5.65003013
3Abnormality of homocysteine metabolism (HP:0010919)5.65003013
4Elevated erythrocyte sedimentation rate (HP:0003565)5.30567490
5Aplasia/Hypoplasia of the macula (HP:0008059)5.12497727
6Aplasia/Hypoplasia affecting the retina (HP:0008061)4.82611976
7Methylmalonic acidemia (HP:0002912)4.80692031
8Absent rod-and cone-mediated responses on ERG (HP:0007688)4.69894866
9Abnormal rod and cone electroretinograms (HP:0008323)4.65680919
10Abnormal auditory evoked potentials (HP:0006958)4.08882767
11Methylmalonic aciduria (HP:0012120)3.69861556
12Nonprogressive disorder (HP:0003680)3.45675034
13Congenital stationary night blindness (HP:0007642)3.36990816
14Premature ovarian failure (HP:0008209)3.33774340
15Abnormality of methionine metabolism (HP:0010901)3.33123941
16Sclerocornea (HP:0000647)3.22184154
17Abnormal number of erythroid precursors (HP:0012131)3.11927290
18Abnormality of aspartate family amino acid metabolism (HP:0010899)3.11388488
19Oral leukoplakia (HP:0002745)3.04124004
20Abnormality of the vitamin B12 metabolism (HP:0004341)3.02586663
21Abnormality of vitamin B metabolism (HP:0004340)3.02584253
22Abnormality of sulfur amino acid metabolism (HP:0004339)2.92987475
23Generalized aminoaciduria (HP:0002909)2.80582067
24Hypothermia (HP:0002045)2.78637902
25Prostate neoplasm (HP:0100787)2.74195272
26Pancytopenia (HP:0001876)2.71667160
27Degeneration of anterior horn cells (HP:0002398)2.67237881
28Abnormality of the anterior horn cell (HP:0006802)2.67237881
29Increased hepatocellular lipid droplets (HP:0006565)2.66404325
30Hypoplasia of the fovea (HP:0007750)2.63487108
31Aplasia/Hypoplasia of the fovea (HP:0008060)2.63487108
32Palpitations (HP:0001962)2.62558837
33Abnormality of cells of the erythroid lineage (HP:0012130)2.61279093
34T lymphocytopenia (HP:0005403)2.58018367
35Acute necrotizing encephalopathy (HP:0006965)2.50995532
36Vascular calcification (HP:0004934)2.49945348
37Decreased central vision (HP:0007663)2.43619713
38Acute encephalopathy (HP:0006846)2.42149757
39Lipid accumulation in hepatocytes (HP:0006561)2.40070888
40Hepatic necrosis (HP:0002605)2.39457651
41Albinism (HP:0001022)2.36620657
42Abnormality of T cell number (HP:0011839)2.34351635
43Increased intramyocellular lipid droplets (HP:0012240)2.30262676
44Hepatocellular necrosis (HP:0001404)2.30206352
45Abnormality of T cells (HP:0002843)2.29464180
46Abnormality of the fovea (HP:0000493)2.25885204
47Abnormality of dicarboxylic acid metabolism (HP:0010995)2.25727739
48Dicarboxylic aciduria (HP:0003215)2.25727739
49Premature graying of hair (HP:0002216)2.22899234
50Mitochondrial inheritance (HP:0001427)2.20404657
51Pustule (HP:0200039)2.20206947
52Decreased lacrimation (HP:0000633)2.17149788
53Abnormal mitochondria in muscle tissue (HP:0008316)2.16632340
54Mitral stenosis (HP:0001718)2.16094354
55Generalized hypopigmentation (HP:0007513)2.14790845
56Abnormality of T cell physiology (HP:0011840)2.13478579
57Progressive macrocephaly (HP:0004481)2.12620043
58Large for gestational age (HP:0001520)2.12406732
59Cardiovascular calcification (HP:0011915)2.11936483
603-Methylglutaconic aciduria (HP:0003535)2.10939976
61Cerebral hypomyelination (HP:0006808)2.10895816
62Congenital sensorineural hearing impairment (HP:0008527)2.10081169
63Protuberant abdomen (HP:0001538)2.08652218
64Abnormality of the parathyroid morphology (HP:0011766)2.08222082
65Constricted visual fields (HP:0001133)2.06789447
66Alacrima (HP:0000522)2.06424201
67Orthostatic hypotension (HP:0001278)2.05260274
68Abnormal delayed hypersensitivity skin test (HP:0002963)2.04806422
69Abnormality of vitamin metabolism (HP:0100508)2.03094576
70Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.98354771
71Decreased activity of mitochondrial respiratory chain (HP:0008972)1.97851606
72Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.97851606
73Abnormal respiratory epithelium morphology (HP:0012253)1.97466097
74Abnormal respiratory motile cilium morphology (HP:0005938)1.97466097
75Microvesicular hepatic steatosis (HP:0001414)1.94728766
76Esotropia (HP:0000565)1.93754662
77Ventricular fibrillation (HP:0001663)1.93636155
78Abnormality of midbrain morphology (HP:0002418)1.92643343
79Molar tooth sign on MRI (HP:0002419)1.92643343
80Tachypnea (HP:0002789)1.90230856
81Increased CSF lactate (HP:0002490)1.89720983
82Abnormality of the prostate (HP:0008775)1.89227226
83Myokymia (HP:0002411)1.87786089
84Bony spicule pigmentary retinopathy (HP:0007737)1.85757801
85Increased muscle lipid content (HP:0009058)1.85573238
86Prolonged QT interval (HP:0001657)1.85008977
87Dysautonomia (HP:0002459)1.83251763
88True hermaphroditism (HP:0010459)1.78886964
89Metaphyseal dysplasia (HP:0100255)1.78699775
90Macrocytic anemia (HP:0001972)1.76557490
91Menstrual irregularities (HP:0000858)1.75292493
92Wide intermamillary distance (HP:0006610)1.74720780
93Furrowed tongue (HP:0000221)1.69725827
94Microcytic anemia (HP:0001935)1.69620412
95Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.68978019
96Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.68804700
97Lethargy (HP:0001254)1.68498078
98Hypoproteinemia (HP:0003075)1.66684781
99Severe combined immunodeficiency (HP:0004430)1.66091326
100Thyroiditis (HP:0100646)1.66085771

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TAOK34.09728848
2ADRBK23.29139222
3BCKDK2.77401731
4CLK12.75957325
5NEK92.75315132
6ITK2.37055511
7TLK12.19927387
8STK242.02935563
9STK1611.6400905
10FRK1.95252664
11GRK11.87664590
12AKT31.73639282
13NME11.73502929
14DDR21.63107759
15TXK1.48133326
16KDR1.40197532
17MAP4K21.32153112
18STK31.28866266
19MAPK71.14985958
20EIF2AK11.14794791
21CSK1.08098786
22TBK11.06790736
23PAK31.03645244
24TEC1.01247259
25PINK10.98960042
26WNK30.98699651
27CSNK1A1L0.97039512
28NEK10.95236758
29CSNK1G30.92850309
30GRK70.89473804
31ZAK0.83713568
32STK38L0.82494441
33ACVR1B0.75932928
34NUAK10.72962630
35PHKG20.72740311
36PHKG10.72740311
37BTK0.70091254
38CSNK1G20.69785472
39TSSK60.69294738
40MST40.67690995
41CASK0.67131051
42ADRBK10.63432815
43CSNK1G10.59776863
44LIMK10.58954543
45RPS6KB10.55677852
46CAMK2D0.54389301
47VRK10.52789067
48PIK3CA0.50625407
49BMPR1B0.49773475
50CAMK2A0.49590025
51IRAK10.49022962
52PTK2B0.46631784
53PLK40.44453711
54INSRR0.44450888
55OXSR10.43873642
56DAPK30.42890185
57BUB10.42107320
58PLK10.42095899
59STK390.41954325
60MAP2K60.41921741
61PRKCG0.40937521
62PRKCE0.40382815
63PLK30.39950726
64OBSCN0.39249410
65EGFR0.37489532
66LCK0.35637827
67CSNK2A20.35450904
68INSR0.35093162
69PRKG10.34871734
70DYRK20.34688755
71PLK20.33996688
72SYK0.33329824
73CSNK1A10.33300281
74PRKACA0.30801792
75EIF2AK30.29338479
76PRKCB0.29234032
77PRKCA0.28505312
78ATR0.27783347
79ROCK10.27298910
80MAPKAPK50.26441808
81CDK70.26244564
82STK40.25298296
83ERBB30.25248292
84CSNK2A10.23314616
85LYN0.22547033
86RPS6KB20.21694739
87PAK40.21465981
88CDK11A0.19760185
89PRKCQ0.19364607
90TIE10.19330264
91KIT0.19238785
92LATS10.19201287
93MAPK150.19149925
94TRIM280.17885332
95ERBB20.17876360
96CDK180.16985857
97AURKA0.16781948
98PASK0.15027356
99CDK150.14946865
100IGF1R0.14918976

Predicted pathways (KEGG)

RankGene SetZ-score
1alpha-Linolenic acid metabolism_Homo sapiens_hsa005924.47607967
2Linoleic acid metabolism_Homo sapiens_hsa005913.99749010
3Protein export_Homo sapiens_hsa030602.97378395
4Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.58532571
5Ribosome_Homo sapiens_hsa030102.53048862
6Type I diabetes mellitus_Homo sapiens_hsa049402.45716543
7Primary immunodeficiency_Homo sapiens_hsa053402.22015558
8Ether lipid metabolism_Homo sapiens_hsa005652.17228839
9Graft-versus-host disease_Homo sapiens_hsa053321.86782588
10Allograft rejection_Homo sapiens_hsa053301.82953776
11Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.79427228
12Parkinsons disease_Homo sapiens_hsa050121.75175009
13Autoimmune thyroid disease_Homo sapiens_hsa053201.74702858
14Histidine metabolism_Homo sapiens_hsa003401.71184578
15Oxidative phosphorylation_Homo sapiens_hsa001901.68060212
16Proteasome_Homo sapiens_hsa030501.64746929
17Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.62725163
18Ovarian steroidogenesis_Homo sapiens_hsa049131.60995900
19Peroxisome_Homo sapiens_hsa041461.56377204
20Intestinal immune network for IgA production_Homo sapiens_hsa046721.54524260
21beta-Alanine metabolism_Homo sapiens_hsa004101.53954183
22Pyrimidine metabolism_Homo sapiens_hsa002401.53042607
23Basal transcription factors_Homo sapiens_hsa030221.49327634
24Fatty acid biosynthesis_Homo sapiens_hsa000611.46309227
25Cardiac muscle contraction_Homo sapiens_hsa042601.44115461
26Serotonergic synapse_Homo sapiens_hsa047261.41654429
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.39656359
28Arachidonic acid metabolism_Homo sapiens_hsa005901.32068829
29Fructose and mannose metabolism_Homo sapiens_hsa000511.31793013
30Tryptophan metabolism_Homo sapiens_hsa003801.30054784
31Caffeine metabolism_Homo sapiens_hsa002321.27679444
32RNA polymerase_Homo sapiens_hsa030201.26485511
33Propanoate metabolism_Homo sapiens_hsa006401.26329403
34Purine metabolism_Homo sapiens_hsa002301.17870290
35Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.11805273
36Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.10415893
37Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.10167914
38Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.08251043
39Antigen processing and presentation_Homo sapiens_hsa046121.06886671
40Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.06786054
41Hematopoietic cell lineage_Homo sapiens_hsa046401.04496704
42Nicotine addiction_Homo sapiens_hsa050331.03591692
43Alzheimers disease_Homo sapiens_hsa050101.01874198
44Huntingtons disease_Homo sapiens_hsa050161.00737616
45Maturity onset diabetes of the young_Homo sapiens_hsa049501.00339248
46Asthma_Homo sapiens_hsa053100.96503507
47Legionellosis_Homo sapiens_hsa051340.94903420
48Olfactory transduction_Homo sapiens_hsa047400.94728873
49Long-term depression_Homo sapiens_hsa047300.90226253
50Phototransduction_Homo sapiens_hsa047440.88157695
51Cysteine and methionine metabolism_Homo sapiens_hsa002700.86815671
52Fat digestion and absorption_Homo sapiens_hsa049750.84473932
53Mineral absorption_Homo sapiens_hsa049780.82532356
54ABC transporters_Homo sapiens_hsa020100.80139351
55Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.77117896
56Pentose and glucuronate interconversions_Homo sapiens_hsa000400.77021551
57Butanoate metabolism_Homo sapiens_hsa006500.72599850
58Retinol metabolism_Homo sapiens_hsa008300.72453631
59Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.72419077
60Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.72227595
612-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.71966343
62Folate biosynthesis_Homo sapiens_hsa007900.71478065
63Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.70540028
64Fanconi anemia pathway_Homo sapiens_hsa034600.68061700
65Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.66514859
66Arginine and proline metabolism_Homo sapiens_hsa003300.65026499
67Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.62034610
68Chemical carcinogenesis_Homo sapiens_hsa052040.61775929
69Spliceosome_Homo sapiens_hsa030400.60768429
70MAPK signaling pathway_Homo sapiens_hsa040100.59279018
71T cell receptor signaling pathway_Homo sapiens_hsa046600.59237771
72Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.58978615
73Base excision repair_Homo sapiens_hsa034100.58645089
74Hedgehog signaling pathway_Homo sapiens_hsa043400.58102602
75Nitrogen metabolism_Homo sapiens_hsa009100.56333724
76Steroid hormone biosynthesis_Homo sapiens_hsa001400.55976213
77Measles_Homo sapiens_hsa051620.54485629
78Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.54167712
79Calcium signaling pathway_Homo sapiens_hsa040200.51640349
80Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.49443619
81Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.48779627
82Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.47732370
83Vascular smooth muscle contraction_Homo sapiens_hsa042700.47726025
84Metabolic pathways_Homo sapiens_hsa011000.46861202
85Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.46000583
86Glutathione metabolism_Homo sapiens_hsa004800.45476024
87Glycerophospholipid metabolism_Homo sapiens_hsa005640.43072872
88Oxytocin signaling pathway_Homo sapiens_hsa049210.42339723
89Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.41002153
90RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.37976739
91Fatty acid degradation_Homo sapiens_hsa000710.37850378
92Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.37738011
93One carbon pool by folate_Homo sapiens_hsa006700.36889483
94Fatty acid elongation_Homo sapiens_hsa000620.35739563
95Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.35335944
96Tyrosine metabolism_Homo sapiens_hsa003500.33750629
97Jak-STAT signaling pathway_Homo sapiens_hsa046300.33401010
98PPAR signaling pathway_Homo sapiens_hsa033200.33340363
99Basal cell carcinoma_Homo sapiens_hsa052170.31627212
100RNA transport_Homo sapiens_hsa030130.29693000

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