NDUFV2P1

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
1DNA deamination (GO:0045006)5.97309632
2proteasome assembly (GO:0043248)5.22687130
3cytidine deamination (GO:0009972)4.64596711
4cytidine metabolic process (GO:0046087)4.64596711
5cytidine catabolic process (GO:0006216)4.64596711
6mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.26895831
7respiratory chain complex IV assembly (GO:0008535)4.17801184
8regulation of cellular amino acid metabolic process (GO:0006521)4.09566056
9establishment of protein localization to mitochondrial membrane (GO:0090151)3.94355962
10L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.91924040
11pyrimidine ribonucleoside catabolic process (GO:0046133)3.91333049
12DNA double-strand break processing (GO:0000729)3.88245936
13mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.85537221
14protein complex biogenesis (GO:0070271)3.85267678
15regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.77931068
16cullin deneddylation (GO:0010388)3.76296743
17negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.72000345
18DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.70659261
19cytochrome complex assembly (GO:0017004)3.68380823
20mitochondrial respiratory chain complex assembly (GO:0033108)3.62537679
21signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.61143260
22signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.61143260
23signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.61143260
24signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.59128688
25intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.59128688
26positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.59095991
27protein deneddylation (GO:0000338)3.58017707
28water-soluble vitamin biosynthetic process (GO:0042364)3.56445102
29energy coupled proton transport, down electrochemical gradient (GO:0015985)3.53166800
30ATP synthesis coupled proton transport (GO:0015986)3.53166800
31respiratory electron transport chain (GO:0022904)3.51005105
32tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.50595215
33RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.50595215
34electron transport chain (GO:0022900)3.48968428
35regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.46013807
36protein neddylation (GO:0045116)3.45884292
37mannosylation (GO:0097502)3.43216081
38signal transduction involved in DNA integrity checkpoint (GO:0072401)3.39624831
39signal transduction involved in DNA damage checkpoint (GO:0072422)3.39624831
40signal transduction involved in cell cycle checkpoint (GO:0072395)3.39173601
41amino acid salvage (GO:0043102)3.39140813
42L-methionine salvage (GO:0071267)3.39140813
43L-methionine biosynthetic process (GO:0071265)3.39140813
44NADH dehydrogenase complex assembly (GO:0010257)3.35168684
45mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.35168684
46mitochondrial respiratory chain complex I assembly (GO:0032981)3.35168684
47negative regulation of ligase activity (GO:0051352)3.32554236
48negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.32554236
49rRNA modification (GO:0000154)3.30811191
50branched-chain amino acid catabolic process (GO:0009083)3.25626383
51nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.24323577
52termination of RNA polymerase III transcription (GO:0006386)3.22449846
53transcription elongation from RNA polymerase III promoter (GO:0006385)3.22449846
54exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.20191832
55platelet dense granule organization (GO:0060155)3.16159616
56positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.15389723
57response to pheromone (GO:0019236)3.10784229
58maturation of 5.8S rRNA (GO:0000460)3.06971000
59anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.04465264
60signal peptide processing (GO:0006465)3.04236980
61positive regulation of ligase activity (GO:0051351)3.04222751
62preassembly of GPI anchor in ER membrane (GO:0016254)3.03386766
63protein-cofactor linkage (GO:0018065)2.90577993
64regulation of cellular amine metabolic process (GO:0033238)2.90083977
65antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.87050272
66lactate metabolic process (GO:0006089)2.84665252
67negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.84225202
68pseudouridine synthesis (GO:0001522)2.84103940
69iron-sulfur cluster assembly (GO:0016226)2.83628122
70metallo-sulfur cluster assembly (GO:0031163)2.83628122
71peptidyl-histidine modification (GO:0018202)2.83434264
72rRNA methylation (GO:0031167)2.83325850
73DNA catabolic process, exonucleolytic (GO:0000738)2.83257107
74protein targeting to mitochondrion (GO:0006626)2.81734302
75ubiquinone biosynthetic process (GO:0006744)2.80889192
76DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.78089531
77regulation of mitochondrial translation (GO:0070129)2.76020054
78GPI anchor metabolic process (GO:0006505)2.72846548
79positive regulation of cell cycle arrest (GO:0071158)2.72237779
80oxidative phosphorylation (GO:0006119)2.71798072
81protein localization to mitochondrion (GO:0070585)2.71498108
82chaperone-mediated protein transport (GO:0072321)2.70547831
83ubiquinone metabolic process (GO:0006743)2.67425633
84GPI anchor biosynthetic process (GO:0006506)2.65958992
85regulation of ubiquitin-protein transferase activity (GO:0051438)2.64660369
86establishment of protein localization to mitochondrion (GO:0072655)2.63748451
87somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.63568649
88isotype switching (GO:0045190)2.63568649
89somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.63568649
90cellular ketone body metabolic process (GO:0046950)2.63554590
91antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.63496723
92negative regulation of telomere maintenance (GO:0032205)2.63129505
93branched-chain amino acid metabolic process (GO:0009081)2.60773872
94C-terminal protein lipidation (GO:0006501)2.60663539
95ribosome assembly (GO:0042255)2.60608905
96dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.60551164
97DNA damage response, detection of DNA damage (GO:0042769)2.60154448
98tRNA processing (GO:0008033)2.57621499
99regulation of ligase activity (GO:0051340)2.57533755
100hydrogen ion transmembrane transport (GO:1902600)2.56071302

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.81352997
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.09324228
3E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.85698652
4NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.74485306
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.49423173
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.07024329
7HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.01518831
8ZNF274_21170338_ChIP-Seq_K562_Hela2.81979094
9VDR_23849224_ChIP-Seq_CD4+_Human2.66922166
10VDR_22108803_ChIP-Seq_LS180_Human2.59380745
11BP1_19119308_ChIP-ChIP_Hs578T_Human2.55724743
12ETS1_20019798_ChIP-Seq_JURKAT_Human2.54704643
13IGF1R_20145208_ChIP-Seq_DFB_Human2.44869711
14ELK1_19687146_ChIP-ChIP_HELA_Human2.44296037
15FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.30320483
16SRF_21415370_ChIP-Seq_HL-1_Mouse2.28255902
17FLI1_27457419_Chip-Seq_LIVER_Mouse2.27575082
18CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.17443321
19CREB1_15753290_ChIP-ChIP_HEK293T_Human2.17165159
20FOXP3_21729870_ChIP-Seq_TREG_Human2.16561677
21ELF1_17652178_ChIP-ChIP_JURKAT_Human2.12926931
22PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.07895910
23MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.93524077
24POU3F2_20337985_ChIP-ChIP_501MEL_Human1.91534481
25PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.86178476
26PCGF2_27294783_Chip-Seq_ESCs_Mouse1.76227710
27FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.73347492
28PADI4_21655091_ChIP-ChIP_MCF-7_Human1.69494275
29EWS_26573619_Chip-Seq_HEK293_Human1.67540535
30MYC_18940864_ChIP-ChIP_HL60_Human1.63074596
31CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.62989324
32NOTCH1_21737748_ChIP-Seq_TLL_Human1.62133181
33DCP1A_22483619_ChIP-Seq_HELA_Human1.55115791
34HOXB4_20404135_ChIP-ChIP_EML_Mouse1.53680079
35GABP_19822575_ChIP-Seq_HepG2_Human1.53361840
36ZFP57_27257070_Chip-Seq_ESCs_Mouse1.52906328
37TP53_22573176_ChIP-Seq_HFKS_Human1.49651383
38E2F4_17652178_ChIP-ChIP_JURKAT_Human1.43391263
39TAF15_26573619_Chip-Seq_HEK293_Human1.42953052
40HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.41819350
41P300_19829295_ChIP-Seq_ESCs_Human1.40251273
42GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.37660652
43HTT_18923047_ChIP-ChIP_STHdh_Human1.34193682
44GBX2_23144817_ChIP-Seq_PC3_Human1.30945641
45MYC_18555785_ChIP-Seq_MESCs_Mouse1.30103629
46TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.29613274
47EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.29446840
48FUS_26573619_Chip-Seq_HEK293_Human1.28537908
49IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.25743526
50CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.25710118
51E2F1_18555785_ChIP-Seq_MESCs_Mouse1.23816613
52NANOG_19829295_ChIP-Seq_ESCs_Human1.22358394
53SOX2_19829295_ChIP-Seq_ESCs_Human1.22358394
54FOXA1_27270436_Chip-Seq_PROSTATE_Human1.20250603
55FOXA1_25329375_ChIP-Seq_VCAP_Human1.20250603
56CTBP1_25329375_ChIP-Seq_LNCAP_Human1.19072602
57MYC_18358816_ChIP-ChIP_MESCs_Mouse1.18845598
58SUZ12_27294783_Chip-Seq_NPCs_Mouse1.17960785
59ER_23166858_ChIP-Seq_MCF-7_Human1.17370683
60SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.17317628
61NFE2_27457419_Chip-Seq_LIVER_Mouse1.16747467
62THAP11_20581084_ChIP-Seq_MESCs_Mouse1.16690809
63IRF1_19129219_ChIP-ChIP_H3396_Human1.15342394
64GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.14842792
65EZH2_27294783_Chip-Seq_NPCs_Mouse1.14224724
66CTBP2_25329375_ChIP-Seq_LNCAP_Human1.13473832
67MYC_19030024_ChIP-ChIP_MESCs_Mouse1.11991086
68AR_20517297_ChIP-Seq_VCAP_Human1.11218427
69PCGF2_27294783_Chip-Seq_NPCs_Mouse1.10243184
70MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.08309170
71GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07011359
72IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.06289376
73CBP_20019798_ChIP-Seq_JUKART_Human1.06289376
74RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.05774684
75EGR1_23403033_ChIP-Seq_LIVER_Mouse1.05417881
76ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.04538699
77YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.03845691
78PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.03293604
79FOXA1_21572438_ChIP-Seq_LNCaP_Human1.02413720
80FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.02072815
81EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.01631945
82KLF5_20875108_ChIP-Seq_MESCs_Mouse1.01366261
83YY1_21170310_ChIP-Seq_MESCs_Mouse1.01071112
84CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.00134918
85HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.99725504
86CRX_20693478_ChIP-Seq_RETINA_Mouse0.97382282
87GATA3_26560356_Chip-Seq_TH2_Human0.97235045
88NCOR_22424771_ChIP-Seq_293T_Human0.95552999
89TTF2_22483619_ChIP-Seq_HELA_Human0.94942813
90ELK1_22589737_ChIP-Seq_MCF10A_Human0.93395130
91UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.92774319
92POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.89304459
93NELFA_20434984_ChIP-Seq_ESCs_Mouse0.88237651
94FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.87003818
95IRF8_22096565_ChIP-ChIP_GC-B_Human0.86932770
96EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.86905253
97PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.86279312
98AUTS2_25519132_ChIP-Seq_293T-REX_Human0.86035839
99RBPJ_21746931_ChIP-Seq_IB4_Human0.85796118
100BCAT_22108803_ChIP-Seq_LS180_Human0.85155663

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002102_abnormal_ear_morphology3.26294050
2MP0002837_dystrophic_cardiac_calcinosis3.14842384
3MP0003806_abnormal_nucleotide_metabolis2.79894580
4MP0008058_abnormal_DNA_repair2.75518542
5MP0000372_irregular_coat_pigmentation2.72271671
6MP0006036_abnormal_mitochondrial_physio2.72223486
7MP0003195_calcinosis2.54978744
8MP0005645_abnormal_hypothalamus_physiol2.47977636
9MP0008877_abnormal_DNA_methylation2.34032233
10MP0005671_abnormal_response_to2.31766545
11MP0006072_abnormal_retinal_apoptosis2.24961362
12MP0003786_premature_aging2.13570337
13MP0003646_muscle_fatigue2.12519184
14MP0006035_abnormal_mitochondrial_morpho1.93590422
15MP0001529_abnormal_vocalization1.91004631
16MP0009697_abnormal_copulation1.90521690
17MP0001984_abnormal_olfaction1.87439621
18MP0008875_abnormal_xenobiotic_pharmacok1.87260586
19MP0003186_abnormal_redox_activity1.79724654
20MP0001835_abnormal_antigen_presentation1.79332635
21MP0004145_abnormal_muscle_electrophysio1.77096401
22MP0008872_abnormal_physiological_respon1.75989593
23MP0004147_increased_porphyrin_level1.74508730
24MP0003718_maternal_effect1.73695601
25MP0005253_abnormal_eye_physiology1.62807714
26MP0005075_abnormal_melanosome_morpholog1.62180585
27MP0003011_delayed_dark_adaptation1.61427272
28MP0005084_abnormal_gallbladder_morpholo1.59772715
29MP0009046_muscle_twitch1.56273130
30MP0002876_abnormal_thyroid_physiology1.50177012
31MP0005646_abnormal_pituitary_gland1.49458544
32MP0001764_abnormal_homeostasis1.46318687
33MP0002163_abnormal_gland_morphology1.41976817
34MP0005551_abnormal_eye_electrophysiolog1.40766933
35MP0002736_abnormal_nociception_after1.40455707
36MP0009785_altered_susceptibility_to1.39568637
37MP0000516_abnormal_urinary_system1.37285079
38MP0005367_renal/urinary_system_phenotyp1.37285079
39MP0010094_abnormal_chromosome_stability1.37107121
40MP0005332_abnormal_amino_acid1.30678239
41MP0001873_stomach_inflammation1.28556302
42MP0005379_endocrine/exocrine_gland_phen1.28094566
43MP0004142_abnormal_muscle_tone1.27273901
44MP0004215_abnormal_myocardial_fiber1.26319127
45MP0001968_abnormal_touch/_nociception1.25583454
46MP0001905_abnormal_dopamine_level1.24458362
47MP0005410_abnormal_fertilization1.23649167
48MP0003693_abnormal_embryo_hatching1.19589946
49MP0008995_early_reproductive_senescence1.17741866
50MP0005636_abnormal_mineral_homeostasis1.15667726
51MP0002138_abnormal_hepatobiliary_system1.14423803
52MP0006276_abnormal_autonomic_nervous1.13429927
53MP0002693_abnormal_pancreas_physiology1.10613525
54MP0003137_abnormal_impulse_conducting1.10180158
55MP0003880_abnormal_central_pattern1.09427504
56MP0008007_abnormal_cellular_replicative1.06616006
57MP0002090_abnormal_vision1.04155151
58MP0001501_abnormal_sleep_pattern1.00340914
59MP0009745_abnormal_behavioral_response0.99423005
60MP0002277_abnormal_respiratory_mucosa0.99289056
61MP0010386_abnormal_urinary_bladder0.96874189
62MP0001661_extended_life_span0.96665031
63MP0003787_abnormal_imprinting0.94653941
64MP0002166_altered_tumor_susceptibility0.94590660
65MP0008789_abnormal_olfactory_epithelium0.94454000
66MP0002272_abnormal_nervous_system0.93320185
67MP0002148_abnormal_hypersensitivity_rea0.92187320
68MP0005389_reproductive_system_phenotype0.92138367
69MP0001919_abnormal_reproductive_system0.88643587
70MP0003567_abnormal_fetal_cardiomyocyte0.88516997
71MP0002638_abnormal_pupillary_reflex0.88443908
72MP0002751_abnormal_autonomic_nervous0.88012280
73MP0006082_CNS_inflammation0.87736371
74MP0009333_abnormal_splenocyte_physiolog0.87724313
75MP0001929_abnormal_gametogenesis0.86774831
76MP0000358_abnormal_cell_content/0.86599143
77MP0005408_hypopigmentation0.86428535
78MP0002234_abnormal_pharynx_morphology0.85093517
79MP0005266_abnormal_metabolism0.84141252
80MP0002909_abnormal_adrenal_gland0.80270540
81MP0005330_cardiomyopathy0.79789545
82MP0002006_tumorigenesis0.78294542
83MP0002938_white_spotting0.76497968
84MP0005085_abnormal_gallbladder_physiolo0.76273647
85MP0006054_spinal_hemorrhage0.76080133
86MP0000749_muscle_degeneration0.74332633
87MP0004957_abnormal_blastocyst_morpholog0.73157981
88MP0008775_abnormal_heart_ventricle0.69456374
89MP0002210_abnormal_sex_determination0.68694733
90MP0000653_abnormal_sex_gland0.68449356
91MP0002160_abnormal_reproductive_system0.67678490
92MP0000639_abnormal_adrenal_gland0.67474088
93MP0001119_abnormal_female_reproductive0.66790123
94MP0004043_abnormal_pH_regulation0.64892724
95MP0004484_altered_response_of0.61702330
96MP0002095_abnormal_skin_pigmentation0.61533463
97MP0001756_abnormal_urination0.60694324
98MP0005386_behavior/neurological_phenoty0.59936414
99MP0004924_abnormal_behavior0.59936414
100MP0001800_abnormal_humoral_immune0.59712100

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.05169157
2Abnormal mitochondria in muscle tissue (HP:0008316)4.58138674
3Acute encephalopathy (HP:0006846)4.47794230
4Progressive macrocephaly (HP:0004481)4.45388759
5Mitochondrial inheritance (HP:0001427)4.40469939
6Increased CSF lactate (HP:0002490)4.20840784
7Hepatocellular necrosis (HP:0001404)3.82406908
8Hepatic necrosis (HP:0002605)3.66112700
9Cerebral edema (HP:0002181)3.51047511
10Lipid accumulation in hepatocytes (HP:0006561)3.49438459
11Increased hepatocellular lipid droplets (HP:0006565)3.41899960
123-Methylglutaconic aciduria (HP:0003535)3.35917626
13Decreased activity of mitochondrial respiratory chain (HP:0008972)3.35283110
14Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.35283110
15Methylmalonic acidemia (HP:0002912)3.00679894
16Lactic acidosis (HP:0003128)2.99883640
17Increased serum lactate (HP:0002151)2.93679466
18Hypothermia (HP:0002045)2.85898696
19Type I transferrin isoform profile (HP:0003642)2.84566268
20Aplastic anemia (HP:0001915)2.80678197
21Increased intramyocellular lipid droplets (HP:0012240)2.76973646
22Methylmalonic aciduria (HP:0012120)2.75665569
23Respiratory failure (HP:0002878)2.72539707
24Renal Fanconi syndrome (HP:0001994)2.66794726
25Exercise intolerance (HP:0003546)2.59994543
26Optic disc pallor (HP:0000543)2.59313574
27Lethargy (HP:0001254)2.59290382
28Abnormal protein glycosylation (HP:0012346)2.57568865
29Abnormal glycosylation (HP:0012345)2.57568865
30Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.57568865
31Abnormal protein N-linked glycosylation (HP:0012347)2.57568865
32Hypoproteinemia (HP:0003075)2.54249905
33Degeneration of anterior horn cells (HP:0002398)2.50358892
34Abnormality of the anterior horn cell (HP:0006802)2.50358892
35Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.46577737
36Increased muscle lipid content (HP:0009058)2.43574007
37Pancreatic cysts (HP:0001737)2.42763412
38Ketoacidosis (HP:0001993)2.35035443
39Stomatitis (HP:0010280)2.28574077
40Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.27921391
41Abolished electroretinogram (ERG) (HP:0000550)2.27628388
42Abnormality of alanine metabolism (HP:0010916)2.25365381
43Hyperalaninemia (HP:0003348)2.25365381
44Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.25365381
45IgG deficiency (HP:0004315)2.25118988
46Renal cortical cysts (HP:0000803)2.23202522
47Medial flaring of the eyebrow (HP:0010747)2.22091361
48Exertional dyspnea (HP:0002875)2.18393163
49Dicarboxylic aciduria (HP:0003215)2.17080520
50Abnormality of dicarboxylic acid metabolism (HP:0010995)2.17080520
51Leukodystrophy (HP:0002415)2.15569899
52CNS demyelination (HP:0007305)2.14012342
53Congenital stationary night blindness (HP:0007642)2.13430386
54Aplasia/hypoplasia of the uterus (HP:0008684)2.12661753
55Abnormality of the labia minora (HP:0012880)2.07259980
56Decreased electroretinogram (ERG) amplitude (HP:0000654)2.06468996
57Abnormality of midbrain morphology (HP:0002418)2.05358807
58Molar tooth sign on MRI (HP:0002419)2.05358807
59Reduced antithrombin III activity (HP:0001976)2.01811569
60Ketosis (HP:0001946)2.00822127
61Thyroiditis (HP:0100646)2.00332829
62Pancreatic fibrosis (HP:0100732)2.00313435
63Generalized aminoaciduria (HP:0002909)2.00153483
64Abnormality of aspartate family amino acid metabolism (HP:0010899)2.00111675
65Abnormality of vitamin B metabolism (HP:0004340)1.99224858
66Hyperglycinemia (HP:0002154)1.98848018
67Hypoglycemic coma (HP:0001325)1.98746326
68True hermaphroditism (HP:0010459)1.93016664
69Abnormality of methionine metabolism (HP:0010901)1.92526245
70Glycosuria (HP:0003076)1.90830104
71Abnormality of urine glucose concentration (HP:0011016)1.90830104
72Pancreatic islet-cell hyperplasia (HP:0004510)1.89723486
73Cerebral hypomyelination (HP:0006808)1.88824669
74Atrophy/Degeneration involving motor neurons (HP:0007373)1.88296624
75Abnormality of serum amino acid levels (HP:0003112)1.84310294
76Large for gestational age (HP:0001520)1.81786360
77Increased serum pyruvate (HP:0003542)1.81462548
78Colon cancer (HP:0003003)1.81455475
79Tongue fasciculations (HP:0001308)1.81175659
80Microvesicular hepatic steatosis (HP:0001414)1.80550265
81Abnormality of the renal cortex (HP:0011035)1.79990293
82Progressive microcephaly (HP:0000253)1.79377675
83Hyperglycinuria (HP:0003108)1.79162584
84Nephrogenic diabetes insipidus (HP:0009806)1.78927154
85Short tibia (HP:0005736)1.77272734
86Hypoglycemic seizures (HP:0002173)1.76233984
87Palpitations (HP:0001962)1.75477909
88Congenital primary aphakia (HP:0007707)1.74767003
89Neoplasm of the adrenal gland (HP:0100631)1.73192029
90X-linked dominant inheritance (HP:0001423)1.73126649
91Abnormality of glycine metabolism (HP:0010895)1.72858458
92Abnormality of serine family amino acid metabolism (HP:0010894)1.72858458
93Pancytopenia (HP:0001876)1.72675598
94Hypomagnesemia (HP:0002917)1.72111499
95Severe combined immunodeficiency (HP:0004430)1.71754712
96Abnormality of endocrine pancreas physiology (HP:0012093)1.71634058
97Abnormality of the pancreatic islet cells (HP:0006476)1.71634058
98Abnormality of the vitamin B12 metabolism (HP:0004341)1.71235114
99Hypoplasia of the fovea (HP:0007750)1.69161553
100Aplasia/Hypoplasia of the fovea (HP:0008060)1.69161553

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K23.10225360
2MST43.03373304
3FRK2.99987065
4TRIM282.90896798
5EIF2AK32.83873137
6BCKDK2.54023104
7TXK2.52566063
8WNK32.31331394
9ZAK2.20249248
10NUAK12.16803516
11VRK22.06113778
12EIF2AK12.04020979
13MAP3K121.96670095
14BCR1.95358246
15ADRBK21.83285385
16TSSK61.77843929
17GRK11.76763810
18SRPK11.74780785
19PINK11.71911626
20ERBB31.70800651
21KDR1.67152699
22BUB11.63602911
23TAOK31.60383264
24CSNK1G31.55120112
25VRK11.53201045
26NEK11.51344189
27CSNK1G11.49261835
28OBSCN1.46500786
29STK161.45683396
30BMPR1B1.42457574
31MAP2K71.38085225
32PLK31.38045617
33CSNK1A1L1.34088009
34CSNK1G21.30879709
35PHKG11.23138674
36PHKG21.23138674
37INSRR1.14532312
38TLK11.06463233
39OXSR11.04654903
40PLK21.02617594
41MAP3K41.00908812
42PAK30.98389707
43LIMK10.96939866
44TIE10.96818723
45TESK10.96347309
46DAPK10.95109898
47PBK0.94508912
48MAPK130.93687674
49TESK20.90011954
50MKNK20.86516867
51MYLK0.85906810
52NME10.84364488
53MAP2K60.81582904
54MKNK10.79742439
55PDK20.77422253
56STK390.75945048
57PRKCE0.75229744
58BMPR20.73755067
59WNK40.69285998
60PLK10.66316627
61DYRK20.64870456
62PLK40.63999321
63STK38L0.63445905
64RPS6KA40.61315773
65EIF2AK20.60237859
66ACVR1B0.58544075
67RPS6KA50.58075161
68FER0.57427976
69ATR0.57334404
70TEC0.54858350
71MAPKAPK30.53551819
72ITK0.53451442
73TNK20.51185739
74CCNB10.50610564
75CSNK1A10.50220245
76PRKCQ0.47949761
77CAMK2A0.47586248
78PRKCG0.46740857
79FLT30.45800216
80PRKCI0.45121979
81IKBKB0.44035489
82CSNK2A10.44024853
83SCYL20.43670905
84CAMKK20.43407935
85BRSK20.43165137
86TNIK0.42826504
87GRK70.42232113
88PIM20.41889651
89CAMK2D0.36756630
90ATM0.36028651
91MINK10.35947498
92PRKACA0.34661970
93DAPK20.34205211
94CSNK2A20.33477575
95ADRBK10.32945643
96PRKCA0.31082371
97SIK30.30480221
98TTK0.29547516
99MAP3K50.28451804
100AURKB0.27909801

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.59040083
2Protein export_Homo sapiens_hsa030603.59018958
3Oxidative phosphorylation_Homo sapiens_hsa001903.29592016
4Parkinsons disease_Homo sapiens_hsa050122.73675925
5RNA polymerase_Homo sapiens_hsa030202.27253198
6Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.16839570
7Propanoate metabolism_Homo sapiens_hsa006402.05371135
8Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.93610739
9Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.88889189
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.84078144
11Fatty acid elongation_Homo sapiens_hsa000621.82275927
12Homologous recombination_Homo sapiens_hsa034401.69716071
13Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.69254715
14Butanoate metabolism_Homo sapiens_hsa006501.67395170
15Asthma_Homo sapiens_hsa053101.64931234
16Alzheimers disease_Homo sapiens_hsa050101.64715173
17Type I diabetes mellitus_Homo sapiens_hsa049401.60874544
18Huntingtons disease_Homo sapiens_hsa050161.58874712
19Mismatch repair_Homo sapiens_hsa034301.58280045
20Non-homologous end-joining_Homo sapiens_hsa034501.54537505
21Basal transcription factors_Homo sapiens_hsa030221.50491390
22Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.48708341
23Autoimmune thyroid disease_Homo sapiens_hsa053201.47948560
24Sulfur metabolism_Homo sapiens_hsa009201.45430596
25Allograft rejection_Homo sapiens_hsa053301.45291677
26Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.41878391
27Primary immunodeficiency_Homo sapiens_hsa053401.37629833
28Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.37186217
29RNA degradation_Homo sapiens_hsa030181.36795069
30Peroxisome_Homo sapiens_hsa041461.36775692
31Maturity onset diabetes of the young_Homo sapiens_hsa049501.36552401
32Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.35698527
33Fanconi anemia pathway_Homo sapiens_hsa034601.30644550
34One carbon pool by folate_Homo sapiens_hsa006701.29223941
35Collecting duct acid secretion_Homo sapiens_hsa049661.27485942
36Phototransduction_Homo sapiens_hsa047441.18167049
37DNA replication_Homo sapiens_hsa030301.17748502
38Regulation of autophagy_Homo sapiens_hsa041401.17626349
39Pyrimidine metabolism_Homo sapiens_hsa002401.17115851
40Nucleotide excision repair_Homo sapiens_hsa034201.15799193
41Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.13451515
42Intestinal immune network for IgA production_Homo sapiens_hsa046721.12422845
43Rheumatoid arthritis_Homo sapiens_hsa053231.11978923
44Cysteine and methionine metabolism_Homo sapiens_hsa002701.09225145
45Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.08479468
46Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.06738753
47Graft-versus-host disease_Homo sapiens_hsa053321.06714221
482-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.05867007
49RNA transport_Homo sapiens_hsa030131.03117701
50Steroid biosynthesis_Homo sapiens_hsa001000.99814974
51Base excision repair_Homo sapiens_hsa034100.99196617
52Purine metabolism_Homo sapiens_hsa002300.98267239
53Vitamin B6 metabolism_Homo sapiens_hsa007500.94392303
54Cardiac muscle contraction_Homo sapiens_hsa042600.92670114
55Primary bile acid biosynthesis_Homo sapiens_hsa001200.91134488
56Selenocompound metabolism_Homo sapiens_hsa004500.89761364
57Tryptophan metabolism_Homo sapiens_hsa003800.87831325
58Fatty acid metabolism_Homo sapiens_hsa012120.87072889
59Spliceosome_Homo sapiens_hsa030400.86862783
60Pyruvate metabolism_Homo sapiens_hsa006200.85900191
61Nitrogen metabolism_Homo sapiens_hsa009100.83996359
62Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.81146087
63Antigen processing and presentation_Homo sapiens_hsa046120.80886755
64Glutathione metabolism_Homo sapiens_hsa004800.80652923
65Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.80544674
66Metabolic pathways_Homo sapiens_hsa011000.79105515
67SNARE interactions in vesicular transport_Homo sapiens_hsa041300.75806472
68Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.73099392
69Fatty acid degradation_Homo sapiens_hsa000710.70875337
70Carbon metabolism_Homo sapiens_hsa012000.69849648
71Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.68727736
72Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.68569723
73Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.67992022
74Folate biosynthesis_Homo sapiens_hsa007900.66124220
75beta-Alanine metabolism_Homo sapiens_hsa004100.64742342
76Caffeine metabolism_Homo sapiens_hsa002320.64503487
77Chemical carcinogenesis_Homo sapiens_hsa052040.63030609
78Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.61569756
79Pentose and glucuronate interconversions_Homo sapiens_hsa000400.61291354
80Linoleic acid metabolism_Homo sapiens_hsa005910.61182025
81Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.58883092
82Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.58146505
83Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.55368045
84Retinol metabolism_Homo sapiens_hsa008300.52358116
85Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.52121893
86Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.52112550
87Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.51971173
88Steroid hormone biosynthesis_Homo sapiens_hsa001400.48092684
89alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.47160880
90Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.46910810
91Hematopoietic cell lineage_Homo sapiens_hsa046400.46853808
92Circadian rhythm_Homo sapiens_hsa047100.43464802
93Ether lipid metabolism_Homo sapiens_hsa005650.42586847
94N-Glycan biosynthesis_Homo sapiens_hsa005100.42470043
95Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.40939226
96Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.39224077
97Drug metabolism - other enzymes_Homo sapiens_hsa009830.37738602
98Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.36466572
99Vibrio cholerae infection_Homo sapiens_hsa051100.34741375
100Biosynthesis of amino acids_Homo sapiens_hsa012300.32708760

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