BOLA2B

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: This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2 (bolA family member 2). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)7.75182002
2ribosomal small subunit biogenesis (GO:0042274)7.58232024
3viral transcription (GO:0019083)7.17689707
4ATP synthesis coupled proton transport (GO:0015986)7.04866610
5energy coupled proton transport, down electrochemical gradient (GO:0015985)7.04866610
6chaperone-mediated protein transport (GO:0072321)6.95661709
7translational termination (GO:0006415)6.87110915
8ribosomal small subunit assembly (GO:0000028)6.77668484
9maturation of SSU-rRNA (GO:0030490)6.43601806
10SRP-dependent cotranslational protein targeting to membrane (GO:0006614)6.17371820
11mitochondrial electron transport, NADH to ubiquinone (GO:0006120)6.14166362
12cotranslational protein targeting to membrane (GO:0006613)6.07941898
13protein targeting to ER (GO:0045047)6.05041089
14translational elongation (GO:0006414)5.88326844
15respiratory electron transport chain (GO:0022904)5.86445434
16establishment of protein localization to mitochondrial membrane (GO:0090151)5.85046480
17establishment of protein localization to endoplasmic reticulum (GO:0072599)5.77680384
18electron transport chain (GO:0022900)5.73245482
19protein localization to endoplasmic reticulum (GO:0070972)5.69989594
20protein complex biogenesis (GO:0070271)5.36981794
21viral life cycle (GO:0019058)5.28924684
22cellular protein complex disassembly (GO:0043624)5.26146835
23nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)5.14103887
24DNA deamination (GO:0045006)5.14068327
25mitochondrial respiratory chain complex assembly (GO:0033108)5.10821430
26mitochondrial respiratory chain complex I biogenesis (GO:0097031)5.01690010
27mitochondrial respiratory chain complex I assembly (GO:0032981)5.01690010
28NADH dehydrogenase complex assembly (GO:0010257)5.01690010
29translational initiation (GO:0006413)4.99255600
30ribosomal large subunit biogenesis (GO:0042273)4.94469601
31regulation of mitochondrial translation (GO:0070129)4.83320408
32translation (GO:0006412)4.74173153
33termination of RNA polymerase III transcription (GO:0006386)4.74071176
34transcription elongation from RNA polymerase III promoter (GO:0006385)4.74071176
35pseudouridine synthesis (GO:0001522)4.46770361
36protein complex disassembly (GO:0043241)4.45637557
37proteasome assembly (GO:0043248)4.44078376
38protein neddylation (GO:0045116)4.30521520
39cellular component biogenesis (GO:0044085)4.28991925
40ribonucleoprotein complex biogenesis (GO:0022613)4.23037755
41protein targeting to mitochondrion (GO:0006626)4.21897858
42macromolecular complex disassembly (GO:0032984)4.20781894
43cytochrome complex assembly (GO:0017004)4.13992440
44pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.12445028
45ATP biosynthetic process (GO:0006754)4.10701545
46establishment of protein localization to mitochondrion (GO:0072655)4.02709402
47protein targeting to membrane (GO:0006612)4.01206653
48purine ribonucleoside triphosphate biosynthetic process (GO:0009206)4.01121586
49purine nucleoside triphosphate biosynthetic process (GO:0009145)3.98277691
50respiratory chain complex IV assembly (GO:0008535)3.96700710
51rRNA processing (GO:0006364)3.86498091
52protein localization to mitochondrion (GO:0070585)3.79580509
53nuclear-transcribed mRNA catabolic process (GO:0000956)3.77693192
54rRNA modification (GO:0000154)3.76625234
55deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.76391459
56hydrogen ion transmembrane transport (GO:1902600)3.71609299
57rRNA metabolic process (GO:0016072)3.71135276
58GTP biosynthetic process (GO:0006183)3.70785052
59ribonucleoside triphosphate biosynthetic process (GO:0009201)3.68066957
60inner mitochondrial membrane organization (GO:0007007)3.64972138
61mRNA catabolic process (GO:0006402)3.57142626
62nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.56320579
63spliceosomal snRNP assembly (GO:0000387)3.53397318
64exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.50636028
65regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.48127720
66negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.45010004
67UTP biosynthetic process (GO:0006228)3.37760310
68pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.37465757
69pyrimidine nucleotide catabolic process (GO:0006244)3.34162688
70water-soluble vitamin biosynthetic process (GO:0042364)3.33317836
71oxidative phosphorylation (GO:0006119)3.32783102
72mitochondrial transport (GO:0006839)3.31892630
73intracellular protein transmembrane import (GO:0044743)3.31422898
74RNA catabolic process (GO:0006401)3.30650355
75RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.30328148
76tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.30328148
77nucleoside triphosphate biosynthetic process (GO:0009142)3.28376711
78proton transport (GO:0015992)3.23431458
79protein-cofactor linkage (GO:0018065)3.22419419
80DNA replication checkpoint (GO:0000076)3.21498361
81DNA damage response, detection of DNA damage (GO:0042769)3.21021860
82negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.18407531
83negative regulation of ligase activity (GO:0051352)3.18407531
84hydrogen transport (GO:0006818)3.15598342
85pyrimidine nucleoside triphosphate metabolic process (GO:0009147)3.14995981
86pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.13663069
87base-excision repair, AP site formation (GO:0006285)3.11752427
88chromatin remodeling at centromere (GO:0031055)3.08597606
89UTP metabolic process (GO:0046051)3.08324864
90guanosine-containing compound biosynthetic process (GO:1901070)3.03993669
91positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.03980560
92peptidyl-histidine modification (GO:0018202)3.03721441
93regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.01314932
94regulation of cellular amino acid metabolic process (GO:0006521)3.00580401
95purine ribonucleoside monophosphate biosynthetic process (GO:0009168)2.98146406
96purine nucleoside monophosphate biosynthetic process (GO:0009127)2.98146406
97CTP biosynthetic process (GO:0006241)2.97860440
98CTP metabolic process (GO:0046036)2.97860440
99tRNA processing (GO:0008033)2.97638706
100ncRNA processing (GO:0034470)2.97194702

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.84457656
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.52009167
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.26997013
4JARID1A_20064375_ChIP-Seq_MESCs_Mouse4.24939308
5EST1_17652178_ChIP-ChIP_JURKAT_Human4.11555854
6ETS1_20019798_ChIP-Seq_JURKAT_Human3.80510344
7E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.55385060
8SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.50028290
9HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.42651964
10CREB1_15753290_ChIP-ChIP_HEK293T_Human3.35582570
11EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.13050397
12MYC_18358816_ChIP-ChIP_MESCs_Mouse3.11061314
13CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.10784397
14HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.08438992
15NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.04481377
16ELF1_17652178_ChIP-ChIP_JURKAT_Human2.87504795
17XRN2_22483619_ChIP-Seq_HELA_Human2.67244758
18MYC_19030024_ChIP-ChIP_MESCs_Mouse2.60591665
19THAP11_20581084_ChIP-Seq_MESCs_Mouse2.55951430
20MYC_19079543_ChIP-ChIP_MESCs_Mouse2.51076244
21VDR_23849224_ChIP-Seq_CD4+_Human2.49101717
22TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.47669974
23MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.43218847
24E2F7_22180533_ChIP-Seq_HELA_Human2.35364354
25SRF_21415370_ChIP-Seq_HL-1_Mouse2.35135739
26FOXP3_21729870_ChIP-Seq_TREG_Human2.33965318
27FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.29973425
28TTF2_22483619_ChIP-Seq_HELA_Human2.29959555
29PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.25155932
30YY1_21170310_ChIP-Seq_MESCs_Mouse2.22233526
31E2F4_17652178_ChIP-ChIP_JURKAT_Human2.18872688
32GABP_19822575_ChIP-Seq_HepG2_Human2.11284039
33DCP1A_22483619_ChIP-Seq_HELA_Human2.08920102
34E2F1_18555785_ChIP-Seq_MESCs_Mouse2.05746534
35ELK1_19687146_ChIP-ChIP_HELA_Human1.98842641
36CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.97073687
37FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.90769174
38MYC_18940864_ChIP-ChIP_HL60_Human1.79447707
39ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.75531179
40NELFA_20434984_ChIP-Seq_ESCs_Mouse1.69583330
41CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.52553001
42FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.50198122
43TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.48812438
44FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.48019964
45POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.47750393
46HOXB4_20404135_ChIP-ChIP_EML_Mouse1.47031556
47MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.40948013
48KDM5A_27292631_Chip-Seq_BREAST_Human1.40655147
49POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.38757338
50YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.37690125
51SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.37104936
52CTCF_18555785_ChIP-Seq_MESCs_Mouse1.29886625
53HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.27966189
54PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.27229731
55ZNF263_19887448_ChIP-Seq_K562_Human1.26172935
56CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.25673755
57NOTCH1_21737748_ChIP-Seq_TLL_Human1.23600722
58CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.22980913
59ELK1_22589737_ChIP-Seq_MCF10A_Human1.19138653
60E2F1_21310950_ChIP-Seq_MCF-7_Human1.17844918
61NANOG_18555785_ChIP-Seq_MESCs_Mouse1.14686629
62BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.10856460
63* FOXP1_21924763_ChIP-Seq_HESCs_Human1.08706086
64HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.07863250
65SRY_22984422_ChIP-ChIP_TESTIS_Rat1.06437719
66KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.06351999
67MYCN_18555785_ChIP-Seq_MESCs_Mouse1.04498107
68ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.03916947
69SOX2_18555785_ChIP-Seq_MESCs_Mouse1.03385859
70PADI4_21655091_ChIP-ChIP_MCF-7_Human1.01681428
71ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.01173829
72SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.99895082
73ERG_20887958_ChIP-Seq_HPC-7_Mouse0.99623177
74SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.98157936
75E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.97622217
76EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.97593463
77BP1_19119308_ChIP-ChIP_Hs578T_Human0.95290215
78CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.92691786
79TP63_19390658_ChIP-ChIP_HaCaT_Human0.92407227
80TET1_21451524_ChIP-Seq_MESCs_Mouse0.89739773
81ZNF274_21170338_ChIP-Seq_K562_Hela0.87498522
82CIITA_25753668_ChIP-Seq_RAJI_Human0.87203602
83CTCF_26484167_Chip-Seq_Bcells_Mouse0.86832717
84ZFX_18555785_ChIP-Seq_MESCs_Mouse0.86786589
85SOX2_16153702_ChIP-ChIP_HESCs_Human0.85827028
86CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.85821489
87CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.83152718
88DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.82801686
89DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.82480349
90FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82355647
91PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.80957465
92YY1_22570637_ChIP-Seq_MALME-3M_Human0.79655028
93RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.78343948
94SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.78233435
95PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.76573494
96CTCF_20526341_ChIP-Seq_ESCs_Human0.76373740
97SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.76265194
98GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.73996485
99TP53_22573176_ChIP-Seq_HFKS_Human0.71062024
100TAF2_19829295_ChIP-Seq_ESCs_Human0.70146910

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation6.06293081
2MP0006292_abnormal_olfactory_placode3.81564825
3MP0003693_abnormal_embryo_hatching3.34560667
4MP0008058_abnormal_DNA_repair3.19729704
5MP0002234_abnormal_pharynx_morphology2.75288652
6MP0002163_abnormal_gland_morphology2.70899548
7MP0003186_abnormal_redox_activity2.42544741
8MP0004957_abnormal_blastocyst_morpholog2.25564528
9MP0003786_premature_aging2.23825582
10MP0006036_abnormal_mitochondrial_physio2.18728257
11MP0010094_abnormal_chromosome_stability2.06595374
12MP0008932_abnormal_embryonic_tissue2.04868070
13MP0003806_abnormal_nucleotide_metabolis2.03339961
14MP0001529_abnormal_vocalization2.02372642
15MP0003111_abnormal_nucleus_morphology2.00147522
16MP0002837_dystrophic_cardiac_calcinosis1.95923219
17MP0000372_irregular_coat_pigmentation1.94675591
18MP0002938_white_spotting1.92788324
19MP0002277_abnormal_respiratory_mucosa1.85994340
20MP0003011_delayed_dark_adaptation1.84818737
21MP0003646_muscle_fatigue1.78970211
22MP0001873_stomach_inflammation1.78569645
23MP0003136_yellow_coat_color1.78327791
24MP0002736_abnormal_nociception_after1.72292838
25MP0003718_maternal_effect1.69529726
26MP0008007_abnormal_cellular_replicative1.68605067
27MP0003077_abnormal_cell_cycle1.63542475
28MP0002160_abnormal_reproductive_system1.59350789
29MP0005379_endocrine/exocrine_gland_phen1.57503311
30MP0008789_abnormal_olfactory_epithelium1.57493455
31MP0006072_abnormal_retinal_apoptosis1.56960922
32MP0000049_abnormal_middle_ear1.56458775
33MP0006035_abnormal_mitochondrial_morpho1.55625328
34MP0010030_abnormal_orbit_morphology1.54624418
35MP0001905_abnormal_dopamine_level1.52935361
36MP0008875_abnormal_xenobiotic_pharmacok1.51491905
37MP0003123_paternal_imprinting1.46284607
38MP0004142_abnormal_muscle_tone1.44645235
39MP0005389_reproductive_system_phenotype1.41992973
40MP0001919_abnormal_reproductive_system1.38227797
41MP0003941_abnormal_skin_development1.35862981
42MP0001293_anophthalmia1.33956112
43MP0008872_abnormal_physiological_respon1.33717019
44MP0005646_abnormal_pituitary_gland1.33259821
45MP0009333_abnormal_splenocyte_physiolog1.31877250
46MP0008995_early_reproductive_senescence1.30369335
47MP0002653_abnormal_ependyma_morphology1.26613571
48MP0001188_hyperpigmentation1.22805067
49MP0005084_abnormal_gallbladder_morpholo1.21368614
50MP0001968_abnormal_touch/_nociception1.18987096
51MP0003315_abnormal_perineum_morphology1.18502761
52MP0001485_abnormal_pinna_reflex1.17195908
53MP0004145_abnormal_muscle_electrophysio1.13570739
54MP0002210_abnormal_sex_determination1.13236224
55MP0001764_abnormal_homeostasis1.05330697
56MP0000631_abnormal_neuroendocrine_gland1.05070218
57MP0005408_hypopigmentation1.05065219
58MP0005671_abnormal_response_to1.03080142
59MP0002102_abnormal_ear_morphology0.98732746
60MP0004742_abnormal_vestibular_system0.97818341
61MP0005410_abnormal_fertilization0.97672017
62MP0003567_abnormal_fetal_cardiomyocyte0.96655195
63MP0003938_abnormal_ear_development0.89808943
64MP0005394_taste/olfaction_phenotype0.89753741
65MP0005499_abnormal_olfactory_system0.89753741
66MP0005075_abnormal_melanosome_morpholog0.86470029
67MP0001145_abnormal_male_reproductive0.86465164
68MP0003195_calcinosis0.85406870
69MP0004147_increased_porphyrin_level0.85128330
70MP0002095_abnormal_skin_pigmentation0.85046687
71MP0001881_abnormal_mammary_gland0.84672965
72MP0002822_catalepsy0.84141484
73MP0000653_abnormal_sex_gland0.83573267
74MP0004133_heterotaxia0.81642235
75MP0005645_abnormal_hypothalamus_physiol0.81365002
76MP0005332_abnormal_amino_acid0.81148773
77MP0008877_abnormal_DNA_methylation0.78946812
78MP0005551_abnormal_eye_electrophysiolog0.78916976
79MP0001929_abnormal_gametogenesis0.78272958
80MP0005253_abnormal_eye_physiology0.77003421
81MP0009046_muscle_twitch0.76516158
82MP0005360_urolithiasis0.73698191
83MP0003937_abnormal_limbs/digits/tail_de0.72835940
84MP0002638_abnormal_pupillary_reflex0.72504437
85MP0005636_abnormal_mineral_homeostasis0.71952417
86MP0001346_abnormal_lacrimal_gland0.70593292
87MP0003936_abnormal_reproductive_system0.69414353
88MP0009697_abnormal_copulation0.69277731
89MP0005195_abnormal_posterior_eye0.68408937
90MP0000313_abnormal_cell_death0.67894616
91MP0001853_heart_inflammation0.66801575
92MP0008873_increased_physiological_sensi0.66724302
93MP0003698_abnormal_male_reproductive0.66223332
94MP0009250_abnormal_appendicular_skeleto0.65940839
95MP0001984_abnormal_olfaction0.63521828
96MP0000026_abnormal_inner_ear0.63317659
97MP0002177_abnormal_outer_ear0.62947771
98MP0001119_abnormal_female_reproductive0.61552696
99MP0006276_abnormal_autonomic_nervous0.61281894
100MP0001286_abnormal_eye_development0.60710781

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)6.43880789
2Abnormal mitochondria in muscle tissue (HP:0008316)6.05256466
3Mitochondrial inheritance (HP:0001427)5.80574446
4Acute encephalopathy (HP:0006846)5.56369975
5Decreased activity of mitochondrial respiratory chain (HP:0008972)5.49183160
6Abnormal activity of mitochondrial respiratory chain (HP:0011922)5.49183160
7Progressive macrocephaly (HP:0004481)5.27166735
8Increased CSF lactate (HP:0002490)5.13218606
9Increased hepatocellular lipid droplets (HP:0006565)5.00290841
10Hepatocellular necrosis (HP:0001404)4.94604716
11Abnormality of cells of the erythroid lineage (HP:0012130)4.71176832
12Abnormal number of erythroid precursors (HP:0012131)4.71083276
13Reticulocytopenia (HP:0001896)4.51380691
14Lipid accumulation in hepatocytes (HP:0006561)4.47875605
15Renal Fanconi syndrome (HP:0001994)4.37539039
16Hepatic necrosis (HP:0002605)4.34430450
17Increased intramyocellular lipid droplets (HP:0012240)4.23131680
18Cerebral edema (HP:0002181)4.10345121
19Macrocytic anemia (HP:0001972)3.95445389
203-Methylglutaconic aciduria (HP:0003535)3.73378024
21Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.68479951
22Increased muscle lipid content (HP:0009058)3.50890530
23Respiratory failure (HP:0002878)3.46984409
24Lactic acidosis (HP:0003128)3.40186877
25Increased serum lactate (HP:0002151)3.32583907
26Aplastic anemia (HP:0001915)3.32081133
27Exertional dyspnea (HP:0002875)3.20673634
28Aplasia/Hypoplasia of the sacrum (HP:0008517)3.16884001
29Exercise intolerance (HP:0003546)3.09367952
30Respiratory difficulties (HP:0002880)3.04674503
31Birth length less than 3rd percentile (HP:0003561)2.98231960
32Pallor (HP:0000980)2.97710726
33Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.94116091
34Optic disc pallor (HP:0000543)2.89057795
35Leukodystrophy (HP:0002415)2.80302258
36Lethargy (HP:0001254)2.65417278
37Abnormality of renal resorption (HP:0011038)2.65074123
38Congenital, generalized hypertrichosis (HP:0004540)2.45300901
39Methylmalonic aciduria (HP:0012120)2.45289216
40Oral leukoplakia (HP:0002745)2.39966455
41Autoimmune thrombocytopenia (HP:0001973)2.36535121
42Methylmalonic acidemia (HP:0002912)2.34587509
43Increased IgM level (HP:0003496)2.33362281
44Pancytopenia (HP:0001876)2.31982000
45Hyperphosphaturia (HP:0003109)2.31778901
46Hyperglycinemia (HP:0002154)2.27005345
47Type I transferrin isoform profile (HP:0003642)2.26712844
48Abnormality of urine glucose concentration (HP:0011016)2.25548798
49Glycosuria (HP:0003076)2.25548798
50Cleft eyelid (HP:0000625)2.20519692
51Microvesicular hepatic steatosis (HP:0001414)2.16779059
52Absent thumb (HP:0009777)2.09592239
53X-linked dominant inheritance (HP:0001423)2.07808274
54CNS demyelination (HP:0007305)2.05786223
55Testicular atrophy (HP:0000029)2.03825051
56Sparse eyelashes (HP:0000653)2.00538115
57Aplasia/hypoplasia of the uterus (HP:0008684)1.99399712
58Autoimmune hemolytic anemia (HP:0001890)1.91164768
59Emotional lability (HP:0000712)1.86982227
60Multiple enchondromatosis (HP:0005701)1.84957980
61Pendular nystagmus (HP:0012043)1.84434927
62Absent rod-and cone-mediated responses on ERG (HP:0007688)1.81380647
63Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.80325590
64Abnormal protein N-linked glycosylation (HP:0012347)1.80325590
65Abnormal protein glycosylation (HP:0012346)1.80325590
66Abnormal glycosylation (HP:0012345)1.80325590
67Neutropenia (HP:0001875)1.79756376
68Abnormality of midbrain morphology (HP:0002418)1.77416603
69Molar tooth sign on MRI (HP:0002419)1.77416603
70Abnormal delayed hypersensitivity skin test (HP:0002963)1.77158996
71Pancreatic cysts (HP:0001737)1.76881160
72Generalized aminoaciduria (HP:0002909)1.75687807
73Dicarboxylic aciduria (HP:0003215)1.74694372
74Abnormality of dicarboxylic acid metabolism (HP:0010995)1.74694372
75Abnormal urine phosphate concentration (HP:0012599)1.74055876
76Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.73802292
77Abnormality of alanine metabolism (HP:0010916)1.73802292
78Hyperalaninemia (HP:0003348)1.73802292
79Microretrognathia (HP:0000308)1.71945291
80Degeneration of anterior horn cells (HP:0002398)1.70237340
81Abnormality of the anterior horn cell (HP:0006802)1.70237340
82Concave nail (HP:0001598)1.69332001
83Colon cancer (HP:0003003)1.68403543
84Progressive microcephaly (HP:0000253)1.67802541
85Pancreatic fibrosis (HP:0100732)1.66535018
86Congenital stationary night blindness (HP:0007642)1.65999209
87Septo-optic dysplasia (HP:0100842)1.64754345
88Rough bone trabeculation (HP:0100670)1.62535024
89Sclerocornea (HP:0000647)1.62300781
90Vomiting (HP:0002013)1.61962704
91Blindness (HP:0000618)1.61266394
92Hypoplasia of the pons (HP:0012110)1.60353806
93Constricted visual fields (HP:0001133)1.59304790
94Bilateral microphthalmos (HP:0007633)1.59097073
95Abnormality of serum amino acid levels (HP:0003112)1.58768466
96True hermaphroditism (HP:0010459)1.57678011
97Abnormal rod and cone electroretinograms (HP:0008323)1.57161049
98Reduced antithrombin III activity (HP:0001976)1.56805245
99Renal tubular dysfunction (HP:0000124)1.56655756
100Triphalangeal thumb (HP:0001199)1.56622223

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TLK15.26612482
2VRK25.16115086
3NME24.62769483
4BUB13.63386771
5ZAK2.98826453
6STK162.88799184
7CDC72.50264256
8VRK12.42261318
9NME12.29366902
10BCKDK2.23273632
11PIK3CA2.12939779
12TESK22.10458655
13PBK2.02767440
14KDR1.96524779
15SRPK11.96176273
16NUAK11.87673712
17TXK1.84075260
18DYRK21.50055444
19PIM21.43987435
20PDK21.43327356
21MST41.36132290
22PLK41.32848728
23CDK191.31850715
24GRK11.21273525
25AURKA1.19052849
26ADRBK21.17015847
27NEK11.15329658
28INSRR1.12508953
29LRRK21.10304229
30ABL21.09872675
31MAP3K111.09078350
32TAF11.08071177
33PLK11.06952572
34PASK1.03939566
35PLK30.99704296
36MAP4K20.98075253
37AURKB0.97715241
38CSNK1G30.94273366
39TTK0.93289295
40RPS6KA50.92106608
41EIF2AK10.89312398
42CHEK20.89121551
43ARAF0.87652580
44WNK30.87602853
45CSNK2A20.87059421
46TESK10.86329811
47WNK40.84025685
48ATR0.82482605
49ILK0.80507400
50OXSR10.80007303
51CSNK2A10.79014799
52LIMK10.78691517
53BRSK10.77003097
54PRKCG0.76814143
55BMPR1B0.75987092
56MUSK0.75754243
57CSNK1G10.74671646
58CDK80.73755023
59GRK70.72967427
60WEE10.71592084
61MAP2K70.69967733
62CSNK1G20.68508365
63CAMKK20.66573013
64IKBKB0.64811583
65PRKCI0.56511380
66MAP2K60.55530125
67STK40.55131173
68CSNK1A1L0.54544011
69DYRK30.54016533
70PAK10.53430296
71DAPK10.50716319
72ADRBK10.50560748
73GRK50.49495155
74GRK60.47864715
75KIT0.47453377
76CDK70.47068746
77DAPK30.46343408
78BRSK20.42828210
79RPS6KA40.38558919
80ATM0.37352886
81PRKCQ0.36405119
82PIM10.34708815
83MAP3K120.33033889
84CHEK10.32953898
85MAPK150.31296569
86PRKACA0.30403412
87CSNK1E0.29636700
88TSSK60.28538579
89CSNK1A10.28482163
90CAMK1D0.27097709
91BRAF0.27071959
92PINK10.25542634
93TNIK0.24075228
94EIF2AK30.23699979
95PRKCA0.22744878
96EIF2AK20.22241227
97CDK40.21831318
98TIE10.21159322
99PRKCD0.20786145
100CDK30.20772544

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030106.08688680
2Oxidative phosphorylation_Homo sapiens_hsa001905.06502953
3Parkinsons disease_Homo sapiens_hsa050124.28638830
4Proteasome_Homo sapiens_hsa030503.83544519
5RNA polymerase_Homo sapiens_hsa030203.61638585
6Huntingtons disease_Homo sapiens_hsa050163.05708639
7Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.95079074
8Alzheimers disease_Homo sapiens_hsa050102.86613551
9DNA replication_Homo sapiens_hsa030302.80858640
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.40927353
11Mismatch repair_Homo sapiens_hsa034302.22229016
12Homologous recombination_Homo sapiens_hsa034402.17969905
13Protein export_Homo sapiens_hsa030602.17182823
14Pyrimidine metabolism_Homo sapiens_hsa002402.12280170
15Cardiac muscle contraction_Homo sapiens_hsa042602.06803779
16Spliceosome_Homo sapiens_hsa030402.03747566
17Base excision repair_Homo sapiens_hsa034101.88010229
18Sulfur relay system_Homo sapiens_hsa041221.63123940
19Nucleotide excision repair_Homo sapiens_hsa034201.62987135
20Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.59798285
21One carbon pool by folate_Homo sapiens_hsa006701.47825381
22Fanconi anemia pathway_Homo sapiens_hsa034601.36600214
23Vitamin B6 metabolism_Homo sapiens_hsa007501.35017554
24Purine metabolism_Homo sapiens_hsa002301.33601300
25RNA transport_Homo sapiens_hsa030131.31288039
26Folate biosynthesis_Homo sapiens_hsa007901.28146105
27RNA degradation_Homo sapiens_hsa030181.23719764
28Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.23403948
29Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.19569630
30Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.14714955
31Caffeine metabolism_Homo sapiens_hsa002321.11628942
32Basal transcription factors_Homo sapiens_hsa030221.08482500
33Sulfur metabolism_Homo sapiens_hsa009200.94770072
34Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.92372426
35Fatty acid elongation_Homo sapiens_hsa000620.85477041
36Metabolic pathways_Homo sapiens_hsa011000.82891539
37Glutathione metabolism_Homo sapiens_hsa004800.80130967
38Primary immunodeficiency_Homo sapiens_hsa053400.74515560
39Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.72676125
40Cysteine and methionine metabolism_Homo sapiens_hsa002700.72674291
41Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.67748568
42Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.67231514
43Pyruvate metabolism_Homo sapiens_hsa006200.65966429
44Systemic lupus erythematosus_Homo sapiens_hsa053220.63714872
45Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.63542708
46Autoimmune thyroid disease_Homo sapiens_hsa053200.61198393
47Collecting duct acid secretion_Homo sapiens_hsa049660.58836996
48Allograft rejection_Homo sapiens_hsa053300.58542020
49Peroxisome_Homo sapiens_hsa041460.55681168
50Linoleic acid metabolism_Homo sapiens_hsa005910.54806868
51Non-homologous end-joining_Homo sapiens_hsa034500.52880165
52Graft-versus-host disease_Homo sapiens_hsa053320.52739516
53Maturity onset diabetes of the young_Homo sapiens_hsa049500.51338460
54Drug metabolism - other enzymes_Homo sapiens_hsa009830.49032480
55Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.48878811
56Selenocompound metabolism_Homo sapiens_hsa004500.48797615
57Cell cycle_Homo sapiens_hsa041100.46779895
58Phototransduction_Homo sapiens_hsa047440.45739945
59Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.45022609
60Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.43949170
61Type I diabetes mellitus_Homo sapiens_hsa049400.43679136
62Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.43414439
63Pentose and glucuronate interconversions_Homo sapiens_hsa000400.43213370
64Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.42681164
65Chemical carcinogenesis_Homo sapiens_hsa052040.42636212
66Propanoate metabolism_Homo sapiens_hsa006400.39251056
67Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.39213781
68Tryptophan metabolism_Homo sapiens_hsa003800.37339036
69Rheumatoid arthritis_Homo sapiens_hsa053230.33688183
70Nitrogen metabolism_Homo sapiens_hsa009100.33231485
71Epstein-Barr virus infection_Homo sapiens_hsa051690.32622277
72Vitamin digestion and absorption_Homo sapiens_hsa049770.31617896
73Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.31418752
74Fat digestion and absorption_Homo sapiens_hsa049750.29840630
75Carbon metabolism_Homo sapiens_hsa012000.29643216
76Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.29102948
77Steroid biosynthesis_Homo sapiens_hsa001000.28874681
78Retinol metabolism_Homo sapiens_hsa008300.27503795
79alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.27458894
80Tyrosine metabolism_Homo sapiens_hsa003500.26168783
81p53 signaling pathway_Homo sapiens_hsa041150.25996082
82SNARE interactions in vesicular transport_Homo sapiens_hsa041300.25425473
83Asthma_Homo sapiens_hsa053100.24691672
84African trypanosomiasis_Homo sapiens_hsa051430.24306589
85Steroid hormone biosynthesis_Homo sapiens_hsa001400.21502374
86Butanoate metabolism_Homo sapiens_hsa006500.20516153
87N-Glycan biosynthesis_Homo sapiens_hsa005100.20007448
88mRNA surveillance pathway_Homo sapiens_hsa030150.19483493
89Arachidonic acid metabolism_Homo sapiens_hsa005900.19447547
90Biosynthesis of amino acids_Homo sapiens_hsa012300.18046255
91Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.16558757
922-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.15553068
93Pentose phosphate pathway_Homo sapiens_hsa000300.14935263
94Phenylalanine metabolism_Homo sapiens_hsa003600.14763116
95Basal cell carcinoma_Homo sapiens_hsa052170.14350236
96Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.14071658
97Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.12137472
98Arginine and proline metabolism_Homo sapiens_hsa003300.12039621
99Galactose metabolism_Homo sapiens_hsa000520.10569675
100Intestinal immune network for IgA production_Homo sapiens_hsa046720.09728680

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