CHCHD2P11

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
1cytidine deamination (GO:0009972)7.68288953
2cytidine metabolic process (GO:0046087)7.68288953
3cytidine catabolic process (GO:0006216)7.68288953
4pyrimidine ribonucleoside catabolic process (GO:0046133)7.44723349
5DNA deamination (GO:0045006)6.83486751
6regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450916.54728365
7cellular response to interleukin-15 (GO:0071350)5.40741974
8negative regulation by host of viral transcription (GO:0043922)5.20700773
9mannosylation (GO:0097502)5.18476416
10axoneme assembly (GO:0035082)4.97918950
11positive regulation of interleukin-8 secretion (GO:2000484)4.97688845
12regulation of lymphocyte chemotaxis (GO:1901623)4.73905206
13water-soluble vitamin biosynthetic process (GO:0042364)4.48573162
14behavioral response to nicotine (GO:0035095)4.34982774
15positive regulation of defense response to virus by host (GO:0002230)4.31590636
16sequestering of actin monomers (GO:0042989)4.13805241
17eosinophil chemotaxis (GO:0048245)4.08280815
18epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.94941071
19negative regulation of mast cell activation (GO:0033004)3.89656147
20protein complex biogenesis (GO:0070271)3.86709702
21nucleoside diphosphate catabolic process (GO:0009134)3.85644696
22mitochondrial respiratory chain complex I assembly (GO:0032981)3.78777588
23NADH dehydrogenase complex assembly (GO:0010257)3.78777588
24mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.78777588
25cilium or flagellum-dependent cell motility (GO:0001539)3.77173172
26response to interleukin-15 (GO:0070672)3.75879235
27axonemal dynein complex assembly (GO:0070286)3.72813991
28regulation of interleukin-8 secretion (GO:2000482)3.68920467
29eosinophil migration (GO:0072677)3.67411396
30regulation of T cell chemotaxis (GO:0010819)3.61441288
31positive regulation of T cell chemotaxis (GO:0010820)3.61441288
32motile cilium assembly (GO:0044458)3.60757972
33L-fucose catabolic process (GO:0042355)3.58006802
34fucose catabolic process (GO:0019317)3.58006802
35L-fucose metabolic process (GO:0042354)3.58006802
36GPI anchor biosynthetic process (GO:0006506)3.56885655
37N-glycan processing (GO:0006491)3.52771744
38positive regulation of lymphocyte migration (GO:2000403)3.50323466
39pyrimidine nucleoside catabolic process (GO:0046135)3.46800195
40cilium movement (GO:0003341)3.41900221
41positive regulation of calcium-mediated signaling (GO:0050850)3.37415099
42protein deneddylation (GO:0000338)3.35769953
43GPI anchor metabolic process (GO:0006505)3.34894612
44mitochondrial respiratory chain complex assembly (GO:0033108)3.34819660
45synaptic transmission, cholinergic (GO:0007271)3.34655287
46regulation of cilium movement (GO:0003352)3.32977932
47positive regulation of protein sumoylation (GO:0033235)3.29705836
48arginine catabolic process (GO:0006527)3.25920325
49cellular response to nicotine (GO:0071316)3.23453733
50epithelial cilium movement (GO:0003351)3.14607305
51CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.14106275
52chaperone mediated protein folding requiring cofactor (GO:0051085)3.13687524
53DNA demethylation (GO:0080111)3.03647357
54retinal cone cell development (GO:0046549)3.00857103
55negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.96205834
56preassembly of GPI anchor in ER membrane (GO:0016254)2.95010411
57ovulation cycle (GO:0042698)2.93422396
58regulation of B cell receptor signaling pathway (GO:0050855)2.91749650
59proteasome assembly (GO:0043248)2.90079970
60rRNA catabolic process (GO:0016075)2.89537890
61maturation of SSU-rRNA (GO:0030490)2.89045656
62adaptation of signaling pathway (GO:0023058)2.87062493
63ubiquinone biosynthetic process (GO:0006744)2.86868004
64fucose metabolic process (GO:0006004)2.85097389
65modulation by host of viral transcription (GO:0043921)2.82759173
66modulation by host of symbiont transcription (GO:0052472)2.82759173
67positive regulation of leukocyte mediated cytotoxicity (GO:0001912)2.80857425
68positive thymic T cell selection (GO:0045059)2.79568600
69negative regulation of T cell receptor signaling pathway (GO:0050860)2.79341634
70negative regulation of viral transcription (GO:0032897)2.77283560
71female mating behavior (GO:0060180)2.76350391
72regulation of T cell receptor signaling pathway (GO:0050856)2.75556542
73tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.74839067
74RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.74839067
75regulation of calcium-mediated signaling (GO:0050848)2.73311166
76fucosylation (GO:0036065)2.73298105
77positive regulation of natural killer cell mediated immunity (GO:0002717)2.70929277
78regulation of lymphocyte migration (GO:2000401)2.70512040
79positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)2.67042874
80positive regulation of T cell mediated cytotoxicity (GO:0001916)2.65152410
81modulation of transcription in other organism involved in symbiotic interaction (GO:0052312)2.64076460
82retinal rod cell development (GO:0046548)2.62620944
83detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.61409722
84detection of mechanical stimulus involved in sensory perception (GO:0050974)2.61250595
85macrophage chemotaxis (GO:0048246)2.61106120
86regulation of leukocyte mediated cytotoxicity (GO:0001910)2.60444039
87regulation of defense response to virus by host (GO:0050691)2.59059957
88DNA integration (GO:0015074)2.56315150
89regulation of T cell mediated cytotoxicity (GO:0001914)2.55978525
90tongue development (GO:0043586)2.55160368
91iron-sulfur cluster assembly (GO:0016226)2.51405988
92metallo-sulfur cluster assembly (GO:0031163)2.51405988
93cardiovascular system development (GO:0072358)2.49887933
94protein polyglutamylation (GO:0018095)2.49281520
95regulation of activation of Janus kinase activity (GO:0010533)2.48837955
96lymphocyte chemotaxis (GO:0048247)2.47491289
97C-terminal protein lipidation (GO:0006501)2.46522632
98mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.46075790
99hypothalamus development (GO:0021854)2.45645221
100positive regulation of cell killing (GO:0031343)2.45388137

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human8.70759985
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.87135613
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.83025268
4ELF1_17652178_ChIP-ChIP_JURKAT_Human3.54610639
5HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.15846902
6STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.02124178
7NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.90074972
8IRF8_22096565_ChIP-ChIP_GC-B_Human2.85175990
9TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.82286620
10GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.63709950
11FLI1_27457419_Chip-Seq_LIVER_Mouse2.57032648
12ZNF274_21170338_ChIP-Seq_K562_Hela2.53207356
13IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.38043350
14GABP_17652178_ChIP-ChIP_JURKAT_Human2.27693722
15SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.16810130
16EZH2_22144423_ChIP-Seq_EOC_Human2.08844091
17VDR_22108803_ChIP-Seq_LS180_Human1.98186551
18PCGF2_27294783_Chip-Seq_ESCs_Mouse1.97910752
19NOTCH1_21737748_ChIP-Seq_TLL_Human1.90429596
20EST1_17652178_ChIP-ChIP_JURKAT_Human1.88984099
21HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.81537762
22IGF1R_20145208_ChIP-Seq_DFB_Human1.77697892
23MYB_26560356_Chip-Seq_TH2_Human1.74279682
24RUNX_20019798_ChIP-Seq_JUKART_Human1.74081579
25IRF1_19129219_ChIP-ChIP_H3396_Human1.60916563
26IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.60138078
27ETS1_20019798_ChIP-Seq_JURKAT_Human1.55137959
28IRF8_21731497_ChIP-ChIP_J774_Mouse1.54506402
29VDR_23849224_ChIP-Seq_CD4+_Human1.54427675
30JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.52148862
31NFE2_27457419_Chip-Seq_LIVER_Mouse1.50460463
32FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.49958225
33GATA3_26560356_Chip-Seq_TH2_Human1.44964913
34KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.39674291
35LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.38670885
36MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.33419470
37SRF_21415370_ChIP-Seq_HL-1_Mouse1.33042408
38TP53_22573176_ChIP-Seq_HFKS_Human1.32195659
39SOX2_19829295_ChIP-Seq_ESCs_Human1.30787895
40NANOG_19829295_ChIP-Seq_ESCs_Human1.30787895
41SUZ12_27294783_Chip-Seq_NPCs_Mouse1.30755815
42PCGF2_27294783_Chip-Seq_NPCs_Mouse1.29225842
43TAF15_26573619_Chip-Seq_HEK293_Human1.25116013
44ELK1_19687146_ChIP-ChIP_HELA_Human1.21829256
45PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.21653463
46BCAT_22108803_ChIP-Seq_LS180_Human1.20751309
47CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.20287902
48RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human1.12043823
49IKZF1_21737484_ChIP-ChIP_HCT116_Human1.11252339
50GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.10857132
51GATA3_27048872_Chip-Seq_THYMUS_Human1.10775464
52EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.09929326
53MYC_19829295_ChIP-Seq_ESCs_Human1.09363123
54NANOG_20526341_ChIP-Seq_ESCs_Human1.08087813
55AR_20517297_ChIP-Seq_VCAP_Human1.07677885
56PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.07129250
57MYC_18940864_ChIP-ChIP_HL60_Human1.07104540
58BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.06284579
59FUS_26573619_Chip-Seq_HEK293_Human1.04805759
60CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.03998116
61RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.03828813
62GATA6_21074721_ChIP-Seq_CACO-2_Human1.02995272
63FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.01756823
64SMAD_19615063_ChIP-ChIP_OVARY_Human1.00901681
65GBX2_23144817_ChIP-Seq_PC3_Human1.00870004
66EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.00063900
67PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.98764026
68GATA3_21878914_ChIP-Seq_MCF-7_Human0.98546358
69CTBP2_25329375_ChIP-Seq_LNCAP_Human0.96943788
70ELK1_22589737_ChIP-Seq_MCF10A_Human0.96926860
71TAF2_19829295_ChIP-Seq_ESCs_Human0.96687350
72PRDM14_20953172_ChIP-Seq_ESCs_Human0.95398783
73CTBP1_25329375_ChIP-Seq_LNCAP_Human0.95282936
74CTCF_20526341_ChIP-Seq_ESCs_Human0.94807176
75EZH2_27294783_Chip-Seq_NPCs_Mouse0.93592524
76TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.93105813
77ERA_21632823_ChIP-Seq_H3396_Human0.91010314
78ETV2_25802403_ChIP-Seq_MESCs_Mouse0.90399031
79AUTS2_25519132_ChIP-Seq_293T-REX_Human0.89938275
80BMI1_23680149_ChIP-Seq_NPCS_Mouse0.88582873
81RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.88199423
82STAT4_19710469_ChIP-ChIP_TH1__Mouse0.88024742
83NCOR_22424771_ChIP-Seq_293T_Human0.87625527
84TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.87013584
85KLF5_20875108_ChIP-Seq_MESCs_Mouse0.86742037
86MYB_26560356_Chip-Seq_TH1_Human0.86068448
87RBPJ_21746931_ChIP-Seq_IB4_Human0.85881963
88ERG_20517297_ChIP-Seq_VCAP_Human0.85767826
89CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.85110293
90CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.84594827
91FOXP3_21729870_ChIP-Seq_TREG_Human0.83136778
92UTX_26944678_Chip-Seq_JUKART_Human0.80913545
93SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.80881649
94FOXA1_25329375_ChIP-Seq_VCAP_Human0.80466163
95FOXA1_27270436_Chip-Seq_PROSTATE_Human0.80466163
96EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.80453969
97PHF8_20622853_ChIP-Seq_HELA_Human0.79176271
98IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.77665126
99CBP_20019798_ChIP-Seq_JUKART_Human0.77665126
100GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.77608477

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000372_irregular_coat_pigmentation3.84468054
2MP0004147_increased_porphyrin_level3.68525391
3MP0003646_muscle_fatigue3.09674043
4MP0002653_abnormal_ependyma_morphology2.78345358
5MP0002638_abnormal_pupillary_reflex2.65350017
6MP0002277_abnormal_respiratory_mucosa2.62887191
7MP0006082_CNS_inflammation2.62329399
8MP0010386_abnormal_urinary_bladder2.62047939
9MP0006276_abnormal_autonomic_nervous2.58705657
10MP0003950_abnormal_plasma_membrane2.56102601
11MP0004381_abnormal_hair_follicle2.52518604
12MP0006072_abnormal_retinal_apoptosis2.50452540
13MP0003880_abnormal_central_pattern2.31945745
14MP0005075_abnormal_melanosome_morpholog2.31850949
15MP0005451_abnormal_body_composition2.24685784
16MP0005671_abnormal_response_to2.24079105
17MP0006292_abnormal_olfactory_placode2.20135808
18MP0003763_abnormal_thymus_physiology2.11877325
19MP0005387_immune_system_phenotype1.99942842
20MP0001790_abnormal_immune_system1.99942842
21MP0003011_delayed_dark_adaptation1.93035129
22MP0000538_abnormal_urinary_bladder1.86983961
23MP0002148_abnormal_hypersensitivity_rea1.82804266
24MP0002234_abnormal_pharynx_morphology1.79395996
25MP0003136_yellow_coat_color1.77741968
26MP0005551_abnormal_eye_electrophysiolog1.76966732
27MP0005253_abnormal_eye_physiology1.72318015
28MP0001800_abnormal_humoral_immune1.71072828
29MP0009333_abnormal_splenocyte_physiolog1.63518201
30MP0009379_abnormal_foot_pigmentation1.60656590
31MP0003866_abnormal_defecation1.51656131
32MP0005000_abnormal_immune_tolerance1.48218467
33MP0002837_dystrophic_cardiac_calcinosis1.46766949
34MP0002723_abnormal_immune_serum1.46586644
35MP0001968_abnormal_touch/_nociception1.44514447
36MP0004043_abnormal_pH_regulation1.41701464
37MP0008877_abnormal_DNA_methylation1.41674858
38MP0002736_abnormal_nociception_after1.39943336
39MP0008872_abnormal_physiological_respon1.32494055
40MP0001905_abnormal_dopamine_level1.30593090
41MP0002420_abnormal_adaptive_immunity1.30045106
42MP0002876_abnormal_thyroid_physiology1.27926222
43MP0002405_respiratory_system_inflammati1.27349915
44MP0001873_stomach_inflammation1.27166186
45MP0008789_abnormal_olfactory_epithelium1.27081488
46MP0001819_abnormal_immune_cell1.23103349
47MP0000569_abnormal_digit_pigmentation1.21878836
48MP0005332_abnormal_amino_acid1.15826999
49MP0004133_heterotaxia1.15268567
50MP0003656_abnormal_erythrocyte_physiolo1.15249313
51MP0003724_increased_susceptibility_to1.15116804
52MP0004145_abnormal_muscle_electrophysio1.14509790
53MP0001958_emphysema1.14238793
54MP0010368_abnormal_lymphatic_system1.12216623
55MP0002877_abnormal_melanocyte_morpholog1.07752188
56MP0004142_abnormal_muscle_tone1.04427139
57MP0000685_abnormal_immune_system1.03408060
58MP0009780_abnormal_chondrocyte_physiolo1.03296828
59MP0009785_altered_susceptibility_to1.00207395
60MP0003879_abnormal_hair_cell0.99443387
61MP0000566_synostosis0.97969404
62MP0002282_abnormal_trachea_morphology0.97703715
63MP0002452_abnormal_antigen_presenting0.97506283
64MP0005025_abnormal_response_to0.97254319
65MP0008875_abnormal_xenobiotic_pharmacok0.94912398
66MP0009053_abnormal_anal_canal0.94295937
67MP0009745_abnormal_behavioral_response0.93538099
68MP0001835_abnormal_antigen_presentation0.90241841
69MP0001970_abnormal_pain_threshold0.89960307
70MP0002733_abnormal_thermal_nociception0.89656798
71MP0001293_anophthalmia0.88968257
72MP0005195_abnormal_posterior_eye0.87740694
73MP0002398_abnormal_bone_marrow0.87692220
74MP0000716_abnormal_immune_system0.87491654
75MP0005391_vision/eye_phenotype0.86733653
76MP0000689_abnormal_spleen_morphology0.83826546
77MP0001845_abnormal_inflammatory_respons0.81538335
78MP0009643_abnormal_urine_homeostasis0.81452548
79MP0005645_abnormal_hypothalamus_physiol0.80371428
80MP0002938_white_spotting0.78446134
81MP0001666_abnormal_nutrient_absorption0.78054637
82MP0002132_abnormal_respiratory_system0.76954224
83MP0003045_fibrosis0.76883809
84MP0002933_joint_inflammation0.75372432
85MP0002163_abnormal_gland_morphology0.75127528
86MP0005174_abnormal_tail_pigmentation0.72784472
87MP0001756_abnormal_urination0.72560775
88MP0002693_abnormal_pancreas_physiology0.71080337
89MP0005165_increased_susceptibility_to0.69122795
90MP0001963_abnormal_hearing_physiology0.66345595
91MP0009840_abnormal_foam_cell0.65614823
92MP0002429_abnormal_blood_cell0.64688498
93MP0004924_abnormal_behavior0.63428559
94MP0005386_behavior/neurological_phenoty0.63428559
95MP0002735_abnormal_chemical_nociception0.63377608
96MP0008469_abnormal_protein_level0.63282643
97MP0001533_abnormal_skeleton_physiology0.62107993
98MP0005499_abnormal_olfactory_system0.61026922
99MP0005394_taste/olfaction_phenotype0.61026922
100MP0002751_abnormal_autonomic_nervous0.59734538

Predicted human phenotypes

RankGene SetZ-score
1Dynein arm defect of respiratory motile cilia (HP:0012255)6.19817914
2Absent/shortened dynein arms (HP:0200106)6.19817914
3T lymphocytopenia (HP:0005403)4.70315881
4Abnormal respiratory motile cilium morphology (HP:0005938)4.53868908
5Abnormal respiratory epithelium morphology (HP:0012253)4.53868908
6Abnormality of T cell number (HP:0011839)4.41337253
7Concave nail (HP:0001598)4.37645220
8Abnormal ciliary motility (HP:0012262)4.33017118
9Chronic hepatic failure (HP:0100626)3.86925805
10Absent rod-and cone-mediated responses on ERG (HP:0007688)3.62635631
11Abnormal respiratory motile cilium physiology (HP:0012261)3.44843899
12Abnormality of midbrain morphology (HP:0002418)3.35795323
13Molar tooth sign on MRI (HP:0002419)3.35795323
14Type II lissencephaly (HP:0007260)3.25829820
15Abnormality of the pons (HP:0007361)3.18549370
16Mitochondrial inheritance (HP:0001427)3.07912683
17Abnormal rod and cone electroretinograms (HP:0008323)2.98683562
18Abnormality of T cells (HP:0002843)2.97564956
19Renal cortical cysts (HP:0000803)2.96507996
20Aplastic anemia (HP:0001915)2.92647318
21IgG deficiency (HP:0004315)2.89743272
22Acute encephalopathy (HP:0006846)2.87050151
23Congenital, generalized hypertrichosis (HP:0004540)2.85357417
24Severe combined immunodeficiency (HP:0004430)2.79709223
25Acute necrotizing encephalopathy (HP:0006965)2.79103000
26Increased intramyocellular lipid droplets (HP:0012240)2.73354684
27Renal Fanconi syndrome (HP:0001994)2.73313350
28Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.70428326
29Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.70254270
30Type I transferrin isoform profile (HP:0003642)2.67223958
31Cerebellar dysplasia (HP:0007033)2.64161418
32Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.61027562
33Recurrent bronchitis (HP:0002837)2.60985041
34Decreased electroretinogram (ERG) amplitude (HP:0000654)2.59879838
35Abnormal delayed hypersensitivity skin test (HP:0002963)2.58812068
36Thyroiditis (HP:0100646)2.57341199
37Hypoplasia of the pons (HP:0012110)2.52190304
38Joint swelling (HP:0001386)2.50851065
39Increased hepatocellular lipid droplets (HP:0006565)2.42014603
40Recurrent sinusitis (HP:0011108)2.40612822
41Nephronophthisis (HP:0000090)2.39569247
42Abnormal mitochondria in muscle tissue (HP:0008316)2.36875185
43Porencephaly (HP:0002132)2.36123096
44Increased CSF lactate (HP:0002490)2.33891694
45Abnormality of eosinophils (HP:0001879)2.31205618
46Recurrent corneal erosions (HP:0000495)2.30994967
47Progressive macrocephaly (HP:0004481)2.30084027
48Anhidrosis (HP:0000970)2.28505161
49Abnormality of the renal cortex (HP:0011035)2.28164722
50Autoimmune hemolytic anemia (HP:0001890)2.23191686
51Methylmalonic aciduria (HP:0012120)2.20604150
52Increased muscle lipid content (HP:0009058)2.20444555
53Bronchiectasis (HP:0002110)2.19891085
54Large for gestational age (HP:0001520)2.19765920
55Abnormality of dental color (HP:0011073)2.11251794
56IgM deficiency (HP:0002850)2.10365499
57Bronchitis (HP:0012387)2.09343030
58Optic disc pallor (HP:0000543)2.08564945
59Abnormality of the renal medulla (HP:0100957)2.07360615
60Hepatocellular necrosis (HP:0001404)2.06616341
61Palpitations (HP:0001962)2.03880291
62Abnormality of the renal collecting system (HP:0004742)2.01809394
63Duplicated collecting system (HP:0000081)1.98457146
64Lipid accumulation in hepatocytes (HP:0006561)1.97569510
65Combined immunodeficiency (HP:0005387)1.96435539
66Recurrent viral infections (HP:0004429)1.95676542
67Autoamputation (HP:0001218)1.95208720
68Severe muscular hypotonia (HP:0006829)1.93501247
69Brushfield spots (HP:0001088)1.93493589
70IgA deficiency (HP:0002720)1.93484681
71Cortical visual impairment (HP:0100704)1.93282897
72Lissencephaly (HP:0001339)1.93243275
73Methylmalonic acidemia (HP:0002912)1.92081865
74Abnormal protein N-linked glycosylation (HP:0012347)1.89439528
75Abnormal protein glycosylation (HP:0012346)1.89439528
76Abnormal glycosylation (HP:0012345)1.89439528
77Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.89439528
78Abnormality of abdominal situs (HP:0011620)1.89417966
79Abdominal situs inversus (HP:0003363)1.89417966
80Vacuolated lymphocytes (HP:0001922)1.89224522
81Congenital stationary night blindness (HP:0007642)1.88950716
82Pancreatic cysts (HP:0001737)1.88384774
83Constricted visual fields (HP:0001133)1.87136977
84Hepatic necrosis (HP:0002605)1.84486927
85Hyperglycinemia (HP:0002154)1.84352786
86Sensory axonal neuropathy (HP:0003390)1.84276784
87Hypoproteinemia (HP:0003075)1.82724151
88Oral leukoplakia (HP:0002745)1.82088218
89Hyperglycinuria (HP:0003108)1.76803660
90Severe visual impairment (HP:0001141)1.76624586
91Bifid tongue (HP:0010297)1.75698024
92Rhinitis (HP:0012384)1.75163397
93Hypophosphatemic rickets (HP:0004912)1.75110594
94Abnormality of T cell physiology (HP:0011840)1.74626690
95Exercise intolerance (HP:0003546)1.74495741
96Conical tooth (HP:0000698)1.74463559
97Chronic diarrhea (HP:0002028)1.74323812
98Infantile muscular hypotonia (HP:0008947)1.73955730
99Cerebral edema (HP:0002181)1.71626287
100Recurrent cutaneous fungal infections (HP:0011370)1.71560868

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TAOK35.29292962
2TXK5.03015903
3BCKDK3.56530692
4MAP4K23.12733758
5MAPKAPK33.05904904
6KDR2.65759780
7FRK2.43737741
8MATK2.41336737
9NTRK12.15816724
10FES2.11379269
11LIMK12.04982555
12EIF2AK12.04481506
13TLK12.01235078
14ZAK1.82099039
15PIK3CA1.74262987
16MAP3K111.70108314
17MAP4K11.61327821
18CDK81.59846660
19TESK11.59256613
20ADRBK21.44833355
21BUB11.40786936
22WNK31.40563782
23ITK1.34639376
24KIT1.34482509
25MARK31.33559963
26MAPK131.32393467
27PRKCQ1.31876019
28MAP3K71.31073108
29EIF2AK31.29271135
30GRK11.22825282
31STK161.22643875
32FER1.18500337
33SYK1.13841527
34NUAK11.13720476
35PAK31.09741067
36MAP3K41.08690418
37TEC1.07918595
38TAOK11.05278096
39MAP2K61.01322153
40CAMKK21.00250636
41LCK0.95917625
42PDK20.95706014
43WNK40.92286332
44TESK20.92122749
45STK38L0.89228281
46WNK10.86849979
47GRK60.86181074
48NLK0.76404191
49INSRR0.72077265
50ADRBK10.71419754
51PKN10.70410955
52MAPK150.70381817
53TIE10.69939104
54SCYL20.69424377
55LYN0.67167022
56IKBKB0.66499365
57BMPR1B0.64465798
58PHKG10.61899507
59PHKG20.61899507
60BTK0.56084476
61LRRK20.55028529
62INSR0.54410466
63BMPR20.54099409
64CAMK10.53114065
65ERBB30.52682286
66PINK10.51072916
67FYN0.49893996
68STK100.49530493
69GRK70.48249737
70MAP2K20.47684206
71MAP3K140.45479730
72IGF1R0.45398256
73CSK0.45209602
74DYRK20.45160919
75OBSCN0.45074723
76PRKCA0.45029112
77PRKCE0.44153052
78ERBB20.43441935
79SRPK10.43366019
80DAPK10.39713662
81VRK10.38932797
82MAPKAPK20.37619150
83MYLK0.37396764
84CSF1R0.37141328
85PRKACA0.36219953
86DAPK20.34821436
87BCR0.32666573
88PRKD20.32389832
89MAPK110.32292192
90ILK0.30154265
91STK110.30097051
92CAMK2D0.29724361
93NME10.28104444
94MUSK0.27874275
95PRKCD0.27172974
96TNIK0.26781386
97CASK0.26711311
98CAMK2A0.26317210
99ABL10.25362359
100ACVR1B0.23885920

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.90336535
2Protein export_Homo sapiens_hsa030603.31213538
3Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005633.00413953
4Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.93553973
5Oxidative phosphorylation_Homo sapiens_hsa001902.85948196
6Proteasome_Homo sapiens_hsa030502.84526630
7Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.71589413
8Ribosome_Homo sapiens_hsa030102.53355964
9Graft-versus-host disease_Homo sapiens_hsa053322.41637956
10Parkinsons disease_Homo sapiens_hsa050122.18776371
11Other types of O-glycan biosynthesis_Homo sapiens_hsa005142.16680383
12Autoimmune thyroid disease_Homo sapiens_hsa053202.05139329
13Hematopoietic cell lineage_Homo sapiens_hsa046402.03614088
14Phototransduction_Homo sapiens_hsa047442.02652764
15Antigen processing and presentation_Homo sapiens_hsa046121.97853026
16Allograft rejection_Homo sapiens_hsa053301.92835580
17Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.83500910
18RNA polymerase_Homo sapiens_hsa030201.83369355
19Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.76262102
20Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.70055964
21Type I diabetes mellitus_Homo sapiens_hsa049401.66007766
22N-Glycan biosynthesis_Homo sapiens_hsa005101.62909207
23Regulation of autophagy_Homo sapiens_hsa041401.58561432
24Alzheimers disease_Homo sapiens_hsa050101.54037202
25Nitrogen metabolism_Homo sapiens_hsa009101.53211806
26Rheumatoid arthritis_Homo sapiens_hsa053231.49827195
27NF-kappa B signaling pathway_Homo sapiens_hsa040641.44425731
28alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.43955771
29Huntingtons disease_Homo sapiens_hsa050161.35092037
30Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.33868976
31T cell receptor signaling pathway_Homo sapiens_hsa046601.32906918
32Sulfur metabolism_Homo sapiens_hsa009201.29678792
33Cardiac muscle contraction_Homo sapiens_hsa042601.28970543
34Primary bile acid biosynthesis_Homo sapiens_hsa001201.28354661
35Propanoate metabolism_Homo sapiens_hsa006401.21709808
36Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.18727408
37Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.17935201
38Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.16939912
39Peroxisome_Homo sapiens_hsa041461.12224979
40Linoleic acid metabolism_Homo sapiens_hsa005911.11035703
41Chemical carcinogenesis_Homo sapiens_hsa052041.10793380
42Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.09304559
43Salmonella infection_Homo sapiens_hsa051321.08444350
44Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.08366741
45Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.08305736
46Intestinal immune network for IgA production_Homo sapiens_hsa046721.06020559
47Caffeine metabolism_Homo sapiens_hsa002321.04380816
48Glycosaminoglycan degradation_Homo sapiens_hsa005311.04105862
49Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.96093673
50Circadian rhythm_Homo sapiens_hsa047100.90863417
51Homologous recombination_Homo sapiens_hsa034400.90099209
52Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.88300152
53Nucleotide excision repair_Homo sapiens_hsa034200.83873680
54Ether lipid metabolism_Homo sapiens_hsa005650.81868111
55Arachidonic acid metabolism_Homo sapiens_hsa005900.81107107
56Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.72390357
57Maturity onset diabetes of the young_Homo sapiens_hsa049500.71469017
58Tryptophan metabolism_Homo sapiens_hsa003800.70116699
59Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.69277040
60Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.68803468
61Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.68641971
62Metabolic pathways_Homo sapiens_hsa011000.66616001
63Pyrimidine metabolism_Homo sapiens_hsa002400.66063536
64Pentose and glucuronate interconversions_Homo sapiens_hsa000400.65849317
65Steroid hormone biosynthesis_Homo sapiens_hsa001400.63445704
66Asthma_Homo sapiens_hsa053100.62823057
67Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.59894298
68Purine metabolism_Homo sapiens_hsa002300.58663410
69Fatty acid degradation_Homo sapiens_hsa000710.57213446
70RNA degradation_Homo sapiens_hsa030180.56126648
71Retinol metabolism_Homo sapiens_hsa008300.55731048
72One carbon pool by folate_Homo sapiens_hsa006700.53959954
73Nicotine addiction_Homo sapiens_hsa050330.50844552
74Measles_Homo sapiens_hsa051620.48931177
75Salivary secretion_Homo sapiens_hsa049700.46988785
76Olfactory transduction_Homo sapiens_hsa047400.46946020
77Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.45046047
78Fatty acid metabolism_Homo sapiens_hsa012120.41104899
79Cysteine and methionine metabolism_Homo sapiens_hsa002700.40768912
80Toll-like receptor signaling pathway_Homo sapiens_hsa046200.40100537
81Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.40099986
82Basal transcription factors_Homo sapiens_hsa030220.39629897
83Butanoate metabolism_Homo sapiens_hsa006500.39493414
84Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.39145241
85Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.35431367
86Chemokine signaling pathway_Homo sapiens_hsa040620.33458669
87Mineral absorption_Homo sapiens_hsa049780.32818944
88Mismatch repair_Homo sapiens_hsa034300.32411596
89SNARE interactions in vesicular transport_Homo sapiens_hsa041300.30871000
90African trypanosomiasis_Homo sapiens_hsa051430.29813608
91Jak-STAT signaling pathway_Homo sapiens_hsa046300.26440987
92Tyrosine metabolism_Homo sapiens_hsa003500.24235684
932-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.23615115
94Thyroid cancer_Homo sapiens_hsa052160.23030530
95Viral myocarditis_Homo sapiens_hsa054160.23030108
96Morphine addiction_Homo sapiens_hsa050320.22502959
97DNA replication_Homo sapiens_hsa030300.19360375
98Vitamin digestion and absorption_Homo sapiens_hsa049770.16128222
99Renin-angiotensin system_Homo sapiens_hsa046140.16110746
100Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.15980313

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