CHCHD2P2

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)7.91568959
2regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450917.12320275
3cytidine deamination (GO:0009972)6.34105704
4cytidine metabolic process (GO:0046087)6.34105704
5cytidine catabolic process (GO:0006216)6.34105704
6pyrimidine ribonucleoside catabolic process (GO:0046133)5.49966856
7cellular response to interleukin-15 (GO:0071350)4.77249147
8protein complex biogenesis (GO:0070271)4.65046952
9regulation of mitochondrial translation (GO:0070129)4.64814747
10water-soluble vitamin biosynthetic process (GO:0042364)4.32321298
11mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.23573763
12cytochrome complex assembly (GO:0017004)4.16222513
13negative regulation by host of viral transcription (GO:0043922)4.10100276
14monoubiquitinated protein deubiquitination (GO:0035520)4.01572381
15mitochondrial respiratory chain complex assembly (GO:0033108)3.99023183
16protein neddylation (GO:0045116)3.97371874
17proteasome assembly (GO:0043248)3.92818713
18positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)3.84306532
19regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)3.81158887
20base-excision repair, AP site formation (GO:0006285)3.80753007
21signal peptide processing (GO:0006465)3.76721297
22regulation of regulatory T cell differentiation (GO:0045589)3.68695977
23macrophage chemotaxis (GO:0048246)3.67862177
24mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.66848142
25glyoxylate metabolic process (GO:0046487)3.66605708
26regulation of immunoglobulin secretion (GO:0051023)3.62422251
27respiratory electron transport chain (GO:0022904)3.49328831
28Arp2/3 complex-mediated actin nucleation (GO:0034314)3.47415029
29electron transport chain (GO:0022900)3.45436278
30positive regulation of interleukin-8 secretion (GO:2000484)3.44751772
31ATP synthesis coupled proton transport (GO:0015986)3.43194857
32energy coupled proton transport, down electrochemical gradient (GO:0015985)3.43194857
33positive regulation of uterine smooth muscle contraction (GO:0070474)3.42944209
34cytolysis (GO:0019835)3.41199768
35protein deneddylation (GO:0000338)3.37371531
36tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.36643502
37RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.36643502
38negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)3.35327669
39pseudouridine synthesis (GO:0001522)3.34023301
40actin nucleation (GO:0045010)3.32627651
41response to interleukin-15 (GO:0070672)3.31958911
42mitochondrial respiratory chain complex I assembly (GO:0032981)3.25248625
43NADH dehydrogenase complex assembly (GO:0010257)3.25248625
44mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.25248625
45regulation of isotype switching to IgG isotypes (GO:0048302)3.22271481
46adaptation of signaling pathway (GO:0023058)3.20353679
47positive regulation of defense response to virus by host (GO:0002230)3.17881139
48negative regulation of membrane potential (GO:0045837)3.14917994
49regulation of cellular amino acid metabolic process (GO:0006521)3.12869163
50T cell migration (GO:0072678)3.12431035
51negative regulation of T cell differentiation in thymus (GO:0033085)3.08857486
52eosinophil chemotaxis (GO:0048245)3.08385477
53positive regulation of lymphocyte migration (GO:2000403)3.07675527
54positive regulation of interleukin-17 production (GO:0032740)3.05874630
55regulation of chronic inflammatory response (GO:0002676)3.04215732
56aldehyde catabolic process (GO:0046185)3.03833100
57negative regulation of stress fiber assembly (GO:0051497)3.03106918
58platelet dense granule organization (GO:0060155)2.99164838
59lymphocyte chemotaxis (GO:0048247)2.94214304
60iron-sulfur cluster assembly (GO:0016226)2.93832136
61metallo-sulfur cluster assembly (GO:0031163)2.93832136
62cobalamin metabolic process (GO:0009235)2.92729361
63S-adenosylmethionine metabolic process (GO:0046500)2.91344328
64pyrimidine nucleoside catabolic process (GO:0046135)2.89241087
65positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)2.85897385
66positive regulation of natural killer cell mediated immunity (GO:0002717)2.84408863
67positive regulation of macrophage differentiation (GO:0045651)2.82585132
68L-methionine salvage (GO:0071267)2.77822087
69L-methionine biosynthetic process (GO:0071265)2.77822087
70amino acid salvage (GO:0043102)2.77822087
71eosinophil migration (GO:0072677)2.77684289
72positive regulation of leukocyte mediated cytotoxicity (GO:0001912)2.76241716
73positive regulation of protein homooligomerization (GO:0032464)2.75027856
74purine deoxyribonucleotide catabolic process (GO:0009155)2.73512035
75protein import into peroxisome matrix (GO:0016558)2.70266596
76mannosylation (GO:0097502)2.69035291
77interferon-gamma production (GO:0032609)2.67535280
78nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.66932677
79L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.66850429
80positive regulation of calcium-mediated signaling (GO:0050850)2.66283565
81ncRNA 3-end processing (GO:0043628)2.65956873
82negative regulation of actin filament bundle assembly (GO:0032232)2.65634843
83positive regulation of protein homodimerization activity (GO:0090073)2.63502018
84behavioral response to nicotine (GO:0035095)2.63293512
85DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.59269194
86response to gravity (GO:0009629)2.58373495
87negative regulation of T cell receptor signaling pathway (GO:0050860)2.56296126
88antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.55958832
89regulation of interleukin-8 secretion (GO:2000482)2.55895899
90positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.53962280
91negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.53961410
92deoxyribose phosphate catabolic process (GO:0046386)2.53184730
93regulation of leukocyte mediated cytotoxicity (GO:0001910)2.52458216
94signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.50804612
95signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.50804612
96signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.50804612
97negative regulation of viral genome replication (GO:0045071)2.49977977
98positive regulation of endothelial cell differentiation (GO:0045603)2.49684125
99L-phenylalanine catabolic process (GO:0006559)2.49181379
100erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.49181379

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human5.96733540
2NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.06375263
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.51489768
4JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.41764071
5GABP_17652178_ChIP-ChIP_JURKAT_Human3.29725312
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.28420655
7SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.27222676
8IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.58008614
9EST1_17652178_ChIP-ChIP_JURKAT_Human2.54812223
10HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.41705634
11SRF_21415370_ChIP-Seq_HL-1_Mouse2.38945566
12IRF8_22096565_ChIP-ChIP_GC-B_Human2.35222067
13VDR_22108803_ChIP-Seq_LS180_Human2.33896245
14VDR_23849224_ChIP-Seq_CD4+_Human2.25301039
15ETS1_20019798_ChIP-Seq_JURKAT_Human2.24503640
16PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.19898764
17ELF1_17652178_ChIP-ChIP_JURKAT_Human2.17484472
18HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.04586002
19E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.02847983
20TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.97227225
21FOXP3_21729870_ChIP-Seq_TREG_Human1.95624655
22STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.90922627
23CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.75594432
24CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.69444670
25LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.62408324
26FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.59367127
27STAT4_19710469_ChIP-ChIP_TH1__Mouse1.55167999
28IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.54005616
29GATA3_26560356_Chip-Seq_TH2_Human1.50156019
30YY1_21170310_ChIP-Seq_MESCs_Mouse1.47067138
31TAF2_19829295_ChIP-Seq_ESCs_Human1.43313618
32IRF8_21731497_ChIP-ChIP_J774_Mouse1.42968085
33MYB_26560356_Chip-Seq_TH2_Human1.38439035
34BCL6_27268052_Chip-Seq_Bcells_Human1.37066046
35SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.36441174
36EGR1_23403033_ChIP-Seq_LIVER_Mouse1.35722008
37MYC_18358816_ChIP-ChIP_MESCs_Mouse1.34867985
38CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.33093742
39EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.32681693
40GATA3_27048872_Chip-Seq_THYMUS_Human1.31797964
41RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.31183401
42RUNX_20019798_ChIP-Seq_JUKART_Human1.29349282
43NOTCH1_21737748_ChIP-Seq_TLL_Human1.28387610
44PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.26875263
45NCOR_22424771_ChIP-Seq_293T_Human1.25403221
46ERA_21632823_ChIP-Seq_H3396_Human1.23525756
47PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.23507972
48CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.23417423
49TP53_22573176_ChIP-Seq_HFKS_Human1.22788970
50SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.20518341
51AUTS2_25519132_ChIP-Seq_293T-REX_Human1.20109933
52CREB1_15753290_ChIP-ChIP_HEK293T_Human1.19958685
53EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.19933019
54SOX2_21211035_ChIP-Seq_LN229_Human1.19705633
55HTT_18923047_ChIP-ChIP_STHdh_Human1.16478259
56TTF2_22483619_ChIP-Seq_HELA_Human1.15179772
57RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.14762929
58TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.14533999
59P53_21459846_ChIP-Seq_SAOS-2_Human1.13475674
60RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human1.12928523
61ETV2_25802403_ChIP-Seq_MESCs_Mouse1.12467026
62ELF1_20517297_ChIP-Seq_JURKAT_Human1.12158638
63MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.11568811
64CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.10925107
65CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.10901915
66ZNF274_21170338_ChIP-Seq_K562_Hela1.10617943
67ERG_20517297_ChIP-Seq_VCAP_Human1.10302094
68GABP_19822575_ChIP-Seq_HepG2_Human1.10209846
69SRY_22984422_ChIP-ChIP_TESTIS_Rat1.09844795
70HOXB4_20404135_ChIP-ChIP_EML_Mouse1.08196884
71MYC_18940864_ChIP-ChIP_HL60_Human1.06441314
72CIITA_25753668_ChIP-Seq_RAJI_Human1.05845621
73IRF1_19129219_ChIP-ChIP_H3396_Human1.05809606
74CTCF_20526341_ChIP-Seq_ESCs_Human1.05547652
75STAT6_21828071_ChIP-Seq_BEAS2B_Human1.04627584
76FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.03147720
77GATA3_21878914_ChIP-Seq_MCF-7_Human1.03126340
78YY1_22570637_ChIP-Seq_MALME-3M_Human1.02743689
79DCP1A_22483619_ChIP-Seq_HELA_Human1.02602062
80GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.02507565
81FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.00870038
82HOXB7_26014856_ChIP-Seq_BT474_Human1.00021498
83POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.99707962
84P300_27268052_Chip-Seq_Bcells_Human0.98859189
85MYC_19829295_ChIP-Seq_ESCs_Human0.98744245
86FOXA1_25329375_ChIP-Seq_VCAP_Human0.97967200
87FOXA1_27270436_Chip-Seq_PROSTATE_Human0.97967200
88RAD21_21589869_ChIP-Seq_MESCs_Mouse0.96884183
89EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.96781752
90CTCF_26484167_Chip-Seq_Bcells_Mouse0.96766898
91STAT1_20625510_ChIP-Seq_HELA_Human0.93958288
92AR_20517297_ChIP-Seq_VCAP_Human0.91815046
93NANOG_20526341_ChIP-Seq_ESCs_Human0.91524470
94TRIM28_21343339_ChIP-Seq_HEK293_Human0.91034234
95EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.90730455
96ELK1_19687146_ChIP-ChIP_HELA_Human0.89414000
97MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.89175804
98FOXH1_21741376_ChIP-Seq_EPCs_Human0.88782085
99CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.88045889
100RAC3_21632823_ChIP-Seq_H3396_Human0.86137371

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue5.19299846
2MP0005671_abnormal_response_to3.75439427
3MP0003011_delayed_dark_adaptation3.46322171
4MP0002837_dystrophic_cardiac_calcinosis3.32946902
5MP0001835_abnormal_antigen_presentation2.79122564
6MP0001853_heart_inflammation2.55932512
7MP0003806_abnormal_nucleotide_metabolis2.49606600
8MP0002736_abnormal_nociception_after2.38469689
9MP0001905_abnormal_dopamine_level2.14271845
10MP0005377_hearing/vestibular/ear_phenot2.10973689
11MP0003878_abnormal_ear_physiology2.10973689
12MP0002876_abnormal_thyroid_physiology2.06544585
13MP0001968_abnormal_touch/_nociception2.04901935
14MP0001661_extended_life_span2.03638641
15MP0009785_altered_susceptibility_to1.94932813
16MP0002102_abnormal_ear_morphology1.93671627
17MP0003866_abnormal_defecation1.84299905
18MP0003786_premature_aging1.82912179
19MP0002277_abnormal_respiratory_mucosa1.81750267
20MP0004145_abnormal_muscle_electrophysio1.81489488
21MP0003122_maternal_imprinting1.76095521
22MP0000604_amyloidosis1.74017356
23MP0001502_abnormal_circadian_rhythm1.69684913
24MP0002148_abnormal_hypersensitivity_rea1.67597192
25MP0004742_abnormal_vestibular_system1.61284406
26MP0005000_abnormal_immune_tolerance1.56853653
27MP0003195_calcinosis1.52861656
28MP0004147_increased_porphyrin_level1.48634666
29MP0003880_abnormal_central_pattern1.47819331
30MP0002166_altered_tumor_susceptibility1.44922397
31MP0009333_abnormal_splenocyte_physiolog1.44434034
32MP0008875_abnormal_xenobiotic_pharmacok1.41926800
33MP0002006_tumorigenesis1.40437697
34MP0005551_abnormal_eye_electrophysiolog1.39173867
35MP0003252_abnormal_bile_duct1.38366663
36MP0001984_abnormal_olfaction1.36970926
37MP0005025_abnormal_response_to1.36301917
38MP0006082_CNS_inflammation1.33326652
39MP0005408_hypopigmentation1.32738620
40MP0001800_abnormal_humoral_immune1.31201483
41MP0010386_abnormal_urinary_bladder1.27606237
42MP0001790_abnormal_immune_system1.27310163
43MP0005387_immune_system_phenotype1.27310163
44MP0000685_abnormal_immune_system1.24468587
45MP0002693_abnormal_pancreas_physiology1.21493187
46MP0005670_abnormal_white_adipose1.21308493
47MP0005646_abnormal_pituitary_gland1.20662933
48MP0001501_abnormal_sleep_pattern1.18124150
49MP0009046_muscle_twitch1.17757310
50MP0008872_abnormal_physiological_respon1.17558474
51MP0005645_abnormal_hypothalamus_physiol1.16773265
52MP0004133_heterotaxia1.16232604
53MP0001764_abnormal_homeostasis1.14379678
54MP0002928_abnormal_bile_duct1.11938569
55MP0002420_abnormal_adaptive_immunity1.11634940
56MP0009764_decreased_sensitivity_to1.10753231
57MP0005332_abnormal_amino_acid1.10316952
58MP0008775_abnormal_heart_ventricle1.09052405
59MP0002751_abnormal_autonomic_nervous1.08518548
60MP0001819_abnormal_immune_cell1.07626902
61MP0001727_abnormal_embryo_implantation1.05078534
62MP0002723_abnormal_immune_serum1.04901255
63MP0002272_abnormal_nervous_system1.02170020
64MP0006072_abnormal_retinal_apoptosis1.01657311
65MP0003763_abnormal_thymus_physiology1.00368117
66MP0005636_abnormal_mineral_homeostasis0.99661410
67MP0000538_abnormal_urinary_bladder0.98906453
68MP0005058_abnormal_lysosome_morphology0.98672821
69MP0001756_abnormal_urination0.97643167
70MP0004130_abnormal_muscle_cell0.94017191
71MP0003136_yellow_coat_color0.91907745
72MP0009745_abnormal_behavioral_response0.91822768
73MP0000569_abnormal_digit_pigmentation0.91102125
74MP0001845_abnormal_inflammatory_respons0.89312900
75MP0006036_abnormal_mitochondrial_physio0.89194719
76MP0001765_abnormal_ion_homeostasis0.87324595
77MP0000639_abnormal_adrenal_gland0.85858439
78MP0004924_abnormal_behavior0.83769617
79MP0005386_behavior/neurological_phenoty0.83769617
80MP0005253_abnormal_eye_physiology0.83268316
81MP0000716_abnormal_immune_system0.81851154
82MP0002138_abnormal_hepatobiliary_system0.81279431
83MP0006276_abnormal_autonomic_nervous0.80303947
84MP0002452_abnormal_antigen_presenting0.78784532
85MP0005085_abnormal_gallbladder_physiolo0.78507639
86MP0003638_abnormal_response/metabolism_0.76471717
87MP0002398_abnormal_bone_marrow0.76033380
88MP0000689_abnormal_spleen_morphology0.75800192
89MP0001963_abnormal_hearing_physiology0.75689522
90MP0002735_abnormal_chemical_nociception0.74520512
91MP0009643_abnormal_urine_homeostasis0.73575789
92MP0002405_respiratory_system_inflammati0.73199537
93MP0003448_altered_tumor_morphology0.72991269
94MP0003567_abnormal_fetal_cardiomyocyte0.72186525
95MP0002234_abnormal_pharynx_morphology0.71900226
96MP0005410_abnormal_fertilization0.71823473
97MP0001970_abnormal_pain_threshold0.71580077
98MP0001529_abnormal_vocalization0.70676170
99MP0000230_abnormal_systemic_arterial0.69102863
100MP0008873_increased_physiological_sensi0.69079451

Predicted human phenotypes

RankGene SetZ-score
1Cutaneous melanoma (HP:0012056)7.00670652
2Methylmalonic aciduria (HP:0012120)4.72004432
3Methylmalonic acidemia (HP:0002912)4.25542519
4Acute necrotizing encephalopathy (HP:0006965)4.17352630
5Aplastic anemia (HP:0001915)4.16281036
6Mitochondrial inheritance (HP:0001427)3.92048666
7Stomatitis (HP:0010280)3.89687573
8Abnormal mitochondria in muscle tissue (HP:0008316)3.88068276
9Hyperglycinemia (HP:0002154)3.87304432
10Acute encephalopathy (HP:0006846)3.78958359
11Progressive macrocephaly (HP:0004481)3.73492788
12IgG deficiency (HP:0004315)3.63645435
13Increased CSF lactate (HP:0002490)3.45464958
14Meningioma (HP:0002858)3.36273215
15Hepatocellular necrosis (HP:0001404)3.31667922
16Cerebral edema (HP:0002181)3.27163624
17Hypoproteinemia (HP:0003075)3.19137582
18Absent rod-and cone-mediated responses on ERG (HP:0007688)3.15890056
19Dicarboxylic aciduria (HP:0003215)3.15764063
20Abnormality of dicarboxylic acid metabolism (HP:0010995)3.15764063
21Elevated erythrocyte sedimentation rate (HP:0003565)3.10997755
223-Methylglutaconic aciduria (HP:0003535)3.06355818
23Hepatic necrosis (HP:0002605)3.04110692
24Ketosis (HP:0001946)2.98926304
25Increased intramyocellular lipid droplets (HP:0012240)2.95034994
26Pancytopenia (HP:0001876)2.92464903
27Abnormality of T cells (HP:0002843)2.90469305
28Congenital, generalized hypertrichosis (HP:0004540)2.90110906
29T lymphocytopenia (HP:0005403)2.74787882
30Thyroiditis (HP:0100646)2.67201285
31Lethargy (HP:0001254)2.66447303
32Chronic diarrhea (HP:0002028)2.64817201
33Optic disc pallor (HP:0000543)2.63019793
34Hypoalbuminemia (HP:0003073)2.52706324
35Abnormal albumin level (HP:0012116)2.52706324
36Abnormality of T cell physiology (HP:0011840)2.52042719
37Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.51280459
38Decreased activity of mitochondrial respiratory chain (HP:0008972)2.51280459
39Severe combined immunodeficiency (HP:0004430)2.48713815
40Lactic acidosis (HP:0003128)2.45960720
41Abnormality of the vitamin B12 metabolism (HP:0004341)2.42047092
42Increased hepatocellular lipid droplets (HP:0006565)2.41504710
43Decreased electroretinogram (ERG) amplitude (HP:0000654)2.40318916
44Abnormal rod and cone electroretinograms (HP:0008323)2.39726076
45Abnormality of T cell number (HP:0011839)2.37930166
46Abnormality of serum amino acid levels (HP:0003112)2.37428873
47Increased muscle lipid content (HP:0009058)2.34024892
48Spastic paraparesis (HP:0002313)2.33171820
49Type I transferrin isoform profile (HP:0003642)2.31063090
50Abnormality of vitamin B metabolism (HP:0004340)2.29279334
51Respiratory failure (HP:0002878)2.29204430
52Increased serum lactate (HP:0002151)2.28391339
53Abnormality of alanine metabolism (HP:0010916)2.27189008
54Hyperalaninemia (HP:0003348)2.27189008
55Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.27189008
56Renal Fanconi syndrome (HP:0001994)2.26266476
57Abnormality of glycine metabolism (HP:0010895)2.26091550
58Abnormality of serine family amino acid metabolism (HP:0010894)2.26091550
59Ketoacidosis (HP:0001993)2.23319700
60Congenital stationary night blindness (HP:0007642)2.21859340
61Melanoma (HP:0002861)2.21066326
62Hemiplegia (HP:0002301)2.19391476
63Lipid accumulation in hepatocytes (HP:0006561)2.12913090
64Agitation (HP:0000713)2.12635402
65Pancreatic fibrosis (HP:0100732)2.06697236
66Panhypogammaglobulinemia (HP:0003139)2.04067988
67Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.01374836
68Type 2 muscle fiber atrophy (HP:0003554)2.00752482
69Leukodystrophy (HP:0002415)1.99840919
70Abnormal drinking behavior (HP:0030082)1.99662393
71Polydipsia (HP:0001959)1.99662393
72Abnormality of aspartate family amino acid metabolism (HP:0010899)1.99260852
73Cerebral palsy (HP:0100021)1.95540678
74Pancreatic cysts (HP:0001737)1.93961030
75Neoplasm of the lung (HP:0100526)1.93345877
76Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.91225375
77IgM deficiency (HP:0002850)1.91078184
78Encephalitis (HP:0002383)1.89713784
79Emotional lability (HP:0000712)1.89633395
80Hyperammonemia (HP:0001987)1.87407407
81Renal cortical cysts (HP:0000803)1.85911532
82Increased IgM level (HP:0003496)1.85090529
83Abnormal protein glycosylation (HP:0012346)1.84443035
84Abnormal glycosylation (HP:0012345)1.84443035
85Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.84443035
86Abnormal protein N-linked glycosylation (HP:0012347)1.84443035
87Abnormality of midbrain morphology (HP:0002418)1.81341317
88Molar tooth sign on MRI (HP:0002419)1.81341317
89Constricted visual fields (HP:0001133)1.80956322
90Abolished electroretinogram (ERG) (HP:0000550)1.80091562
91Aplasia/hypoplasia of the uterus (HP:0008684)1.79051515
92Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.78571320
93Neoplasm of the adrenal gland (HP:0100631)1.78241334
94Combined immunodeficiency (HP:0005387)1.78002661
95Acute hepatic failure (HP:0006554)1.77794405
96Exercise intolerance (HP:0003546)1.77735974
97Abnormality of methionine metabolism (HP:0010901)1.75704496
98True hermaphroditism (HP:0010459)1.75409032
99Hypomagnesemia (HP:0002917)1.75013678
100Neoplasm of the respiratory system (HP:0100606)1.73495554

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK5.32034053
2TXK4.38117221
3KDR3.67490664
4FRK3.49425690
5ZAK3.46263808
6MAP4K23.43111342
7TLK13.42467649
8TESK23.02265905
9ITK2.17250797
10PDK22.10379131
11SCYL22.08307364
12WNK41.92297277
13GRK11.89581940
14MAPKAPK31.84709222
15FES1.84442450
16TESK11.75066416
17LIMK11.74841435
18PINK11.54663263
19VRK21.54553673
20TNK21.53694470
21ADRBK21.44927790
22NUAK11.39328835
23PIK3CG1.39068362
24TEC1.29569011
25PRKCQ1.28661848
26CSNK1G31.28050487
27MYLK1.24702752
28VRK11.20240410
29TAOK31.11225765
30IKBKB1.08536286
31RPS6KA51.07040879
32MAP3K121.03470082
33DAPK11.00969645
34CSNK1G20.95995075
35LCK0.91729567
36MAP2K70.90572588
37NTRK10.88192145
38CAMKK20.88066429
39SYK0.86442736
40MAP4K10.85498321
41STK390.83998269
42EIF2AK30.83403893
43BTK0.82674029
44CSNK1G10.82101804
45MAP3K130.79785967
46CSK0.76040185
47DYRK20.75519719
48RPS6KA40.74926768
49LYN0.73062025
50BUB10.69960246
51OBSCN0.69911654
52OXSR10.69598040
53CSNK1A1L0.67894427
54INSRR0.67126730
55AURKA0.65267858
56MAPKAPK50.64336338
57NEK10.63789177
58FGFR20.58888781
59MATK0.58847802
60TSSK60.58399614
61PLK40.58259343
62WNK30.58216641
63MST40.57734973
64MAP2K60.57599919
65ILK0.56302644
66IGF1R0.55827051
67CSNK1A10.51696531
68PASK0.49893816
69NTRK20.49408470
70SRPK10.49332458
71PLK10.48791237
72PRKCA0.48093090
73KIT0.46919503
74JAK30.46357892
75PKN10.43456780
76CAMK2A0.43376678
77PLK30.43317272
78ROCK10.43111884
79LRRK20.42206135
80INSR0.42192323
81NEK20.41249091
82PAK40.39901939
83STK160.38843593
84EIF2AK10.38034097
85ADRBK10.37943927
86JAK10.37871376
87TAOK20.37259138
88MAPK130.36884972
89PRKACA0.36852520
90ABL20.36115522
91BMPR20.34721130
92CSNK2A10.34356448
93CDK30.34040454
94MAP3K110.33532921
95TIE10.33521761
96FYN0.32907916
97BRSK10.32758947
98CSNK2A20.32089007
99ERBB20.28488099
100CAMKK10.28226146

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.99983570
2Oxidative phosphorylation_Homo sapiens_hsa001903.87345429
3Primary immunodeficiency_Homo sapiens_hsa053403.60160772
4Parkinsons disease_Homo sapiens_hsa050123.08344582
5Protein export_Homo sapiens_hsa030602.97512852
6Graft-versus-host disease_Homo sapiens_hsa053322.76831324
7Autoimmune thyroid disease_Homo sapiens_hsa053202.75140024
8Allograft rejection_Homo sapiens_hsa053302.62828803
9Sulfur metabolism_Homo sapiens_hsa009202.48684838
10Type I diabetes mellitus_Homo sapiens_hsa049402.39972007
11Antigen processing and presentation_Homo sapiens_hsa046122.11632132
12Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.08991527
13Alzheimers disease_Homo sapiens_hsa050101.95220070
14Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.84727227
15One carbon pool by folate_Homo sapiens_hsa006701.82147800
16RNA polymerase_Homo sapiens_hsa030201.76732930
17Huntingtons disease_Homo sapiens_hsa050161.72221361
18Ribosome_Homo sapiens_hsa030101.70906129
19Hematopoietic cell lineage_Homo sapiens_hsa046401.70458980
20Rheumatoid arthritis_Homo sapiens_hsa053231.68324621
21Asthma_Homo sapiens_hsa053101.66600775
22Nitrogen metabolism_Homo sapiens_hsa009101.66346074
23Peroxisome_Homo sapiens_hsa041461.65696490
24Maturity onset diabetes of the young_Homo sapiens_hsa049501.65137383
25Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.54207687
26Cardiac muscle contraction_Homo sapiens_hsa042601.50595640
27Intestinal immune network for IgA production_Homo sapiens_hsa046721.47924318
28T cell receptor signaling pathway_Homo sapiens_hsa046601.45935225
29Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.34659926
30Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.32535657
31Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.30252190
32Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.29588366
33Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.19930204
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.19209337
35Collecting duct acid secretion_Homo sapiens_hsa049661.17772508
36Propanoate metabolism_Homo sapiens_hsa006401.15773001
37Phototransduction_Homo sapiens_hsa047441.15206601
38Retinol metabolism_Homo sapiens_hsa008301.08514820
39Sulfur relay system_Homo sapiens_hsa041221.04593390
40Tryptophan metabolism_Homo sapiens_hsa003801.04253750
41Pyrimidine metabolism_Homo sapiens_hsa002400.93813365
42Linoleic acid metabolism_Homo sapiens_hsa005910.93553816
43Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.90312675
44Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.86827594
45Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.86809085
46Fatty acid biosynthesis_Homo sapiens_hsa000610.85695380
47NF-kappa B signaling pathway_Homo sapiens_hsa040640.77147265
48alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.75253006
49Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.75045677
50DNA replication_Homo sapiens_hsa030300.73191847
51Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.71660569
52Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.69749029
53Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.69150455
54Butanoate metabolism_Homo sapiens_hsa006500.67782336
55Steroid hormone biosynthesis_Homo sapiens_hsa001400.66445002
56Regulation of autophagy_Homo sapiens_hsa041400.65910397
57Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.65646348
58Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.65421133
59Chemical carcinogenesis_Homo sapiens_hsa052040.64945105
60Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.64461941
61Viral myocarditis_Homo sapiens_hsa054160.61928722
62Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.61581419
63Metabolic pathways_Homo sapiens_hsa011000.61205044
64Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.59024244
65Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.58764390
66Fatty acid elongation_Homo sapiens_hsa000620.58470421
67Malaria_Homo sapiens_hsa051440.58031448
68Fatty acid degradation_Homo sapiens_hsa000710.56422164
69Base excision repair_Homo sapiens_hsa034100.55701719
70Measles_Homo sapiens_hsa051620.52201053
71Folate biosynthesis_Homo sapiens_hsa007900.52162392
72Primary bile acid biosynthesis_Homo sapiens_hsa001200.50844184
73Fanconi anemia pathway_Homo sapiens_hsa034600.50515043
74Steroid biosynthesis_Homo sapiens_hsa001000.50161449
75Salmonella infection_Homo sapiens_hsa051320.49510541
76RNA degradation_Homo sapiens_hsa030180.47478059
77Purine metabolism_Homo sapiens_hsa002300.46990869
78Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.41961359
79Jak-STAT signaling pathway_Homo sapiens_hsa046300.37356534
80Shigellosis_Homo sapiens_hsa051310.34439047
812-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.34262944
82Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.33984936
83Glycerolipid metabolism_Homo sapiens_hsa005610.32991391
84Drug metabolism - other enzymes_Homo sapiens_hsa009830.29989316
85Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.29820618
86Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.29494798
87Homologous recombination_Homo sapiens_hsa034400.29417326
88Arachidonic acid metabolism_Homo sapiens_hsa005900.29309106
89Cysteine and methionine metabolism_Homo sapiens_hsa002700.28352251
90Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.27388996
91Spliceosome_Homo sapiens_hsa030400.26329654
92Ovarian steroidogenesis_Homo sapiens_hsa049130.25873521
93Fatty acid metabolism_Homo sapiens_hsa012120.25017537
94beta-Alanine metabolism_Homo sapiens_hsa004100.23675127
95Pyruvate metabolism_Homo sapiens_hsa006200.23507014
96Nucleotide excision repair_Homo sapiens_hsa034200.23475887
97SNARE interactions in vesicular transport_Homo sapiens_hsa041300.22936532
98Mismatch repair_Homo sapiens_hsa034300.22772041
99Pentose and glucuronate interconversions_Homo sapiens_hsa000400.22684705
100Glutathione metabolism_Homo sapiens_hsa004800.21337727

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