CHCHD2P3

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
1mature B cell differentiation involved in immune response (GO:0002313)6.33903434
2maturation of SSU-rRNA (GO:0030490)5.70693359
3ATP synthesis coupled proton transport (GO:0015986)5.25803822
4energy coupled proton transport, down electrochemical gradient (GO:0015985)5.25803822
5mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.07477032
6positive regulation of fibroblast migration (GO:0010763)4.85345018
7negative regulation of heart rate (GO:0010459)4.83439964
8DNA deamination (GO:0045006)4.79323793
9mature B cell differentiation (GO:0002335)4.62413169
10fucose catabolic process (GO:0019317)4.59000924
11L-fucose metabolic process (GO:0042354)4.59000924
12L-fucose catabolic process (GO:0042355)4.59000924
13immunoglobulin mediated immune response (GO:0016064)4.50384933
14fusion of sperm to egg plasma membrane (GO:0007342)4.28304993
15ribosomal small subunit assembly (GO:0000028)4.23309126
16respiratory electron transport chain (GO:0022904)4.13637527
17regulation of glomerular filtration (GO:0003093)4.06205778
18electron transport chain (GO:0022900)4.03620310
19mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.00999861
20negative regulation of mast cell activation (GO:0033004)3.85997483
21mast cell activation involved in immune response (GO:0002279)3.72455365
22mast cell degranulation (GO:0043303)3.72455365
23mast cell activation (GO:0045576)3.72225993
24glutathione biosynthetic process (GO:0006750)3.71273323
25protein neddylation (GO:0045116)3.70896139
26B cell mediated immunity (GO:0019724)3.70286992
27one-carbon compound transport (GO:0019755)3.69175945
28viral transcription (GO:0019083)3.67303758
29regulation of circadian sleep/wake cycle, sleep (GO:0045187)3.63619858
30regulation of circadian sleep/wake cycle (GO:0042749)3.63619858
31endoderm formation (GO:0001706)3.58766991
32nonribosomal peptide biosynthetic process (GO:0019184)3.54677937
33negative regulation of telomere maintenance (GO:0032205)3.54449168
34negative regulation of macrophage differentiation (GO:0045650)3.54145781
35translational termination (GO:0006415)3.53987613
36response to interferon-beta (GO:0035456)3.49162135
37positive regulation of inflammatory response to antigenic stimulus (GO:0002863)3.41671358
38plasma membrane fusion (GO:0045026)3.35015947
39proton transport (GO:0015992)3.32378389
40negative regulation of T cell differentiation in thymus (GO:0033085)3.29971482
41nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.29357845
42hydrogen transport (GO:0006818)3.25364038
43hydrogen ion transmembrane transport (GO:1902600)3.20948155
44translational elongation (GO:0006414)3.17436636
45circadian sleep/wake cycle process (GO:0022410)3.16667607
46multicellular organism reproduction (GO:0032504)3.11005045
47RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.08209530
48tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.08209530
49positive regulation of protein homooligomerization (GO:0032464)3.06643803
50ATP biosynthetic process (GO:0006754)3.05967966
51SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.04667536
52chaperone-mediated protein transport (GO:0072321)3.02741086
53DNA damage response, detection of DNA damage (GO:0042769)3.02587852
54positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610813.02442175
55exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.00801102
56cotranslational protein targeting to membrane (GO:0006613)2.99439397
57preassembly of GPI anchor in ER membrane (GO:0016254)2.99150267
58protein targeting to ER (GO:0045047)2.96973088
59regulation of hypersensitivity (GO:0002883)2.96900675
60regulation of urine volume (GO:0035809)2.91947300
61cellular response to interferon-beta (GO:0035458)2.88616822
62pseudouridine synthesis (GO:0001522)2.85509308
63establishment of protein localization to endoplasmic reticulum (GO:0072599)2.85384786
64purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.85225897
65interferon-gamma-mediated signaling pathway (GO:0060333)2.84911590
66protein complex biogenesis (GO:0070271)2.84242252
67L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.81594979
68protein deneddylation (GO:0000338)2.79865037
69peptide biosynthetic process (GO:0043043)2.79322698
70phenol-containing compound catabolic process (GO:0019336)2.78239241
71cullin deneddylation (GO:0010388)2.77760937
72purine nucleoside triphosphate biosynthetic process (GO:0009145)2.77239810
73mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.75473480
74mitochondrial respiratory chain complex I assembly (GO:0032981)2.75473480
75NADH dehydrogenase complex assembly (GO:0010257)2.75473480
76renal system process involved in regulation of blood volume (GO:0001977)2.74292206
77protein localization to endoplasmic reticulum (GO:0070972)2.73956697
78positive regulation of mitochondrial fission (GO:0090141)2.73566015
79negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)2.73489549
80regulation of cellular respiration (GO:0043457)2.71647788
81nucleotide transmembrane transport (GO:1901679)2.71489819
82ribosomal small subunit biogenesis (GO:0042274)2.68203075
83regulation of interleukin-8 secretion (GO:2000482)2.67979373
84regulation of inflammatory response to antigenic stimulus (GO:0002861)2.67757747
85regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.66993390
86chaperone mediated protein folding requiring cofactor (GO:0051085)2.66559256
87dendritic spine morphogenesis (GO:0060997)2.65872021
88positive regulation of interleukin-8 secretion (GO:2000484)2.65663212
89GPI anchor biosynthetic process (GO:0006506)2.64500677
90cellular protein complex disassembly (GO:0043624)2.62886750
91regulation of acute inflammatory response to antigenic stimulus (GO:0002864)2.62809540
92regulation of fibroblast migration (GO:0010762)2.60801393
93positive regulation of T-helper 1 type immune response (GO:0002827)2.60572221
94response to pheromone (GO:0019236)2.59766727
95UTP metabolic process (GO:0046051)2.59441279
96spliceosomal complex assembly (GO:0000245)2.58900413
97positive regulation of B cell proliferation (GO:0030890)2.58634169
98positive regulation of heart rate (GO:0010460)2.55740058
99piRNA metabolic process (GO:0034587)2.51975060
100interferon-gamma production (GO:0032609)2.51684182

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse5.55666782
2SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.70341033
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.66962081
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.37095696
5GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.36177767
6RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.99152931
7IRF8_22096565_ChIP-ChIP_GC-B_Human2.69915893
8HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.56638874
9IKZF1_21737484_ChIP-ChIP_HCT116_Human2.52945518
10EST1_17652178_ChIP-ChIP_JURKAT_Human2.52075250
11CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.23520852
12YY1_21170310_ChIP-Seq_MESCs_Mouse2.19362313
13IRF1_19129219_ChIP-ChIP_H3396_Human2.16673968
14VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human2.08291964
15BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.07786046
16IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.03874845
17JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.03286456
18VDR_23849224_ChIP-Seq_CD4+_Human1.85139002
19ZNF274_21170338_ChIP-Seq_K562_Hela1.84899976
20EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.75692710
21ELF1_17652178_ChIP-ChIP_JURKAT_Human1.67407718
22EZH2_22144423_ChIP-Seq_EOC_Human1.67068283
23EGR1_23403033_ChIP-Seq_LIVER_Mouse1.66946395
24PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.64992050
25GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.63945667
26PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.63779719
27MYC_18940864_ChIP-ChIP_HL60_Human1.60780910
28MYC_18555785_ChIP-Seq_MESCs_Mouse1.56767574
29FLI1_27457419_Chip-Seq_LIVER_Mouse1.53536140
30NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.50148501
31CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.49732003
32TP53_22573176_ChIP-Seq_HFKS_Human1.48344447
33HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.48122208
34ETS1_20019798_ChIP-Seq_JURKAT_Human1.47348310
35RBPJ_22232070_ChIP-Seq_NCS_Mouse1.44986137
36FOXP3_21729870_ChIP-Seq_TREG_Human1.42827806
37EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.39458940
38CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.38487255
39SRF_21415370_ChIP-Seq_HL-1_Mouse1.38305216
40PCGF2_27294783_Chip-Seq_ESCs_Mouse1.37126848
41EWS_26573619_Chip-Seq_HEK293_Human1.36927637
42ZFP57_27257070_Chip-Seq_ESCs_Mouse1.35090703
43CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.34746046
44SOX2_19829295_ChIP-Seq_ESCs_Human1.34404223
45NANOG_19829295_ChIP-Seq_ESCs_Human1.34404223
46CTBP1_25329375_ChIP-Seq_LNCAP_Human1.31580985
47SRY_22984422_ChIP-ChIP_TESTIS_Rat1.30568036
48BCAT_22108803_ChIP-Seq_LS180_Human1.29018190
49FOXH1_21741376_ChIP-Seq_EPCs_Human1.28827335
50AR_20517297_ChIP-Seq_VCAP_Human1.27755462
51MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.26474230
52P300_19829295_ChIP-Seq_ESCs_Human1.25860580
53STAT4_19710469_ChIP-ChIP_TH1__Mouse1.25643919
54HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.24618635
55PCGF2_27294783_Chip-Seq_NPCs_Mouse1.24094273
56PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.20916155
57PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.20615980
58IRF8_21731497_ChIP-ChIP_J774_Mouse1.19116785
59CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.18467201
60TDRD3_21172665_ChIP-Seq_MCF-7_Human1.18259721
61POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.17584561
62SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.17487586
63BCL6_27268052_Chip-Seq_Bcells_Human1.16757834
64NANOG_20526341_ChIP-Seq_ESCs_Human1.15927572
65FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.15472735
66MYC_19829295_ChIP-Seq_ESCs_Human1.14795836
67AUTS2_25519132_ChIP-Seq_293T-REX_Human1.14334622
68TAF2_19829295_ChIP-Seq_ESCs_Human1.13402398
69ELK1_19687146_ChIP-ChIP_HELA_Human1.13394785
70CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.12672946
71RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.12375462
72TTF2_22483619_ChIP-Seq_HELA_Human1.09006058
73IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.07759187
74GATA3_26560356_Chip-Seq_TH2_Human1.06721871
75CTBP2_25329375_ChIP-Seq_LNCAP_Human1.06597223
76TCF4_22108803_ChIP-Seq_LS180_Human1.06169020
77EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.04503572
78ER_23166858_ChIP-Seq_MCF-7_Human1.03457065
79E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.02372831
80STAT1_20625510_ChIP-Seq_HELA_Human1.02246583
81FOXA1_27270436_Chip-Seq_PROSTATE_Human1.00171579
82FOXA1_25329375_ChIP-Seq_VCAP_Human1.00171579
83ELF1_20517297_ChIP-Seq_JURKAT_Human0.97039252
84VDR_22108803_ChIP-Seq_LS180_Human0.96236560
85BMI1_23680149_ChIP-Seq_NPCS_Mouse0.95753545
86CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.95551010
87GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.93181284
88FUS_26573619_Chip-Seq_HEK293_Human0.93180471
89RAC3_21632823_ChIP-Seq_H3396_Human0.93176921
90HOXB7_26014856_ChIP-Seq_BT474_Human0.93068771
91SPI1_20517297_ChIP-Seq_HL60_Human0.89522611
92GATA6_21074721_ChIP-Seq_CACO-2_Human0.89499277
93SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.89163285
94POU5F1_16153702_ChIP-ChIP_HESCs_Human0.88532220
95ELK1_22589737_ChIP-Seq_MCF10A_Human0.88359683
96ETV2_25802403_ChIP-Seq_MESCs_Mouse0.88221737
97CBX2_27304074_Chip-Seq_ESCs_Mouse0.87589914
98RNF2_27304074_Chip-Seq_NSC_Mouse0.86297636
99SUZ12_27294783_Chip-Seq_NPCs_Mouse0.86261757
100MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.84813190

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation4.81268189
2MP0004142_abnormal_muscle_tone3.83943183
3MP0003646_muscle_fatigue3.20501722
4MP0001835_abnormal_antigen_presentation3.16448353
5MP0002138_abnormal_hepatobiliary_system2.69811001
6MP0009764_decreased_sensitivity_to2.43626344
7MP0005367_renal/urinary_system_phenotyp2.42761906
8MP0000516_abnormal_urinary_system2.42761906
9MP0001188_hyperpigmentation2.29198049
10MP0006072_abnormal_retinal_apoptosis2.25057123
11MP0005410_abnormal_fertilization2.22806671
12MP0001529_abnormal_vocalization2.18828174
13MP0005671_abnormal_response_to2.18784052
14MP0004742_abnormal_vestibular_system2.14361202
15MP0008877_abnormal_DNA_methylation2.12883791
16MP0002166_altered_tumor_susceptibility2.05146716
17MP0003186_abnormal_redox_activity1.96562199
18MP0009046_muscle_twitch1.88834857
19MP0002272_abnormal_nervous_system1.88563962
20MP0003122_maternal_imprinting1.87330727
21MP0006292_abnormal_olfactory_placode1.82325168
22MP0000685_abnormal_immune_system1.81823947
23MP0006276_abnormal_autonomic_nervous1.80711809
24MP0005167_abnormal_blood-brain_barrier1.76082950
25MP0001919_abnormal_reproductive_system1.74264771
26MP0002653_abnormal_ependyma_morphology1.69911942
27MP0004145_abnormal_muscle_electrophysio1.69740956
28MP0008872_abnormal_physiological_respon1.66984695
29MP0005670_abnormal_white_adipose1.59813359
30MP0002163_abnormal_gland_morphology1.55677166
31MP0002006_tumorigenesis1.55292768
32MP0003693_abnormal_embryo_hatching1.49932709
33MP0003195_calcinosis1.49619573
34MP0005551_abnormal_eye_electrophysiolog1.49516579
35MP0001800_abnormal_humoral_immune1.43398554
36MP0001970_abnormal_pain_threshold1.42209886
37MP0003121_genomic_imprinting1.35167192
38MP0008875_abnormal_xenobiotic_pharmacok1.34944672
39MP0006035_abnormal_mitochondrial_morpho1.30754176
40MP0002837_dystrophic_cardiac_calcinosis1.27114141
41MP0005423_abnormal_somatic_nervous1.27046335
42MP0002733_abnormal_thermal_nociception1.26271722
43MP0005085_abnormal_gallbladder_physiolo1.25755164
44MP0002102_abnormal_ear_morphology1.24311645
45MP0005360_urolithiasis1.24249104
46MP0010386_abnormal_urinary_bladder1.22253592
47MP0003123_paternal_imprinting1.21557982
48MP0000343_altered_response_to1.20883687
49MP0006036_abnormal_mitochondrial_physio1.20865488
50MP0001501_abnormal_sleep_pattern1.20503931
51MP0005379_endocrine/exocrine_gland_phen1.19460896
52MP0002148_abnormal_hypersensitivity_rea1.18021557
53MP0002234_abnormal_pharynx_morphology1.17653984
54MP0000534_abnormal_ureter_morphology1.17452385
55MP0001486_abnormal_startle_reflex1.14368413
56MP0005389_reproductive_system_phenotype1.12850914
57MP0000537_abnormal_urethra_morphology1.11670229
58MP0005365_abnormal_bile_salt1.09653190
59MP0008961_abnormal_basal_metabolism1.09462151
60MP0009745_abnormal_behavioral_response1.09433743
61MP0002184_abnormal_innervation1.06240334
62MP0002723_abnormal_immune_serum1.02739818
63MP0001790_abnormal_immune_system1.01473976
64MP0005387_immune_system_phenotype1.01473976
65MP0001440_abnormal_grooming_behavior1.00833113
66MP0005000_abnormal_immune_tolerance0.99186400
67MP0005646_abnormal_pituitary_gland0.98273452
68MP0000778_abnormal_nervous_system0.97965930
69MP0003252_abnormal_bile_duct0.97823822
70MP0005253_abnormal_eye_physiology0.96685274
71MP0001663_abnormal_digestive_system0.93902711
72MP0002452_abnormal_antigen_presenting0.92024598
73MP0001986_abnormal_taste_sensitivity0.88790339
74MP0002572_abnormal_emotion/affect_behav0.88737660
75MP0003866_abnormal_defecation0.88673844
76MP0002557_abnormal_social/conspecific_i0.88312163
77MP0005332_abnormal_amino_acid0.88179310
78MP0002734_abnormal_mechanical_nocicepti0.88085972
79MP0003638_abnormal_response/metabolism_0.88058606
80MP0002064_seizures0.87434561
81MP0001984_abnormal_olfaction0.86615255
82MP0005645_abnormal_hypothalamus_physiol0.86349858
83MP0000538_abnormal_urinary_bladder0.86185101
84MP0001485_abnormal_pinna_reflex0.84755416
85MP0003787_abnormal_imprinting0.82266472
86MP0005025_abnormal_response_to0.81741541
87MP0001905_abnormal_dopamine_level0.81696705
88MP0003878_abnormal_ear_physiology0.81126694
89MP0005377_hearing/vestibular/ear_phenot0.81126694
90MP0002735_abnormal_chemical_nociception0.80241050
91MP0004924_abnormal_behavior0.78865023
92MP0005386_behavior/neurological_phenoty0.78865023
93MP0003879_abnormal_hair_cell0.78231521
94MP0002420_abnormal_adaptive_immunity0.77486129
95MP0002876_abnormal_thyroid_physiology0.77392294
96MP0002067_abnormal_sensory_capabilities0.76956146
97MP0002277_abnormal_respiratory_mucosa0.74208110
98MP0001819_abnormal_immune_cell0.74080711
99MP0000955_abnormal_spinal_cord0.73317460
100MP0009785_altered_susceptibility_to0.72384408

Predicted human phenotypes

RankGene SetZ-score
1Hypomagnesemia (HP:0002917)5.91600238
2Abnormality of magnesium homeostasis (HP:0004921)5.08839925
3Acute necrotizing encephalopathy (HP:0006965)4.94073030
4Abnormal mitochondria in muscle tissue (HP:0008316)4.27688301
5Acute encephalopathy (HP:0006846)4.09466344
6Progressive macrocephaly (HP:0004481)4.01694292
7Hepatocellular necrosis (HP:0001404)3.85153285
8Mitochondrial inheritance (HP:0001427)3.84720667
9Retinal dysplasia (HP:0007973)3.83293659
10Absent rod-and cone-mediated responses on ERG (HP:0007688)3.72515841
11Abnormality of cells of the erythroid lineage (HP:0012130)3.70503205
12Agitation (HP:0000713)3.68388928
13Hepatic necrosis (HP:0002605)3.57308973
14Abnormality of midbrain morphology (HP:0002418)3.54492111
15Molar tooth sign on MRI (HP:0002419)3.54492111
16Cerebral edema (HP:0002181)3.42192848
17Broad-based gait (HP:0002136)3.38176373
18Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.35804712
19Abolished electroretinogram (ERG) (HP:0000550)3.34464917
203-Methylglutaconic aciduria (HP:0003535)3.23524065
21Reticulocytopenia (HP:0001896)3.21037325
22Decreased activity of mitochondrial respiratory chain (HP:0008972)3.16836743
23Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.16836743
24Congenital, generalized hypertrichosis (HP:0004540)3.09040023
25Increased CSF lactate (HP:0002490)3.07631896
26Type 2 muscle fiber atrophy (HP:0003554)2.87530410
27Abnormal number of erythroid precursors (HP:0012131)2.84755091
28J-shaped sella turcica (HP:0002680)2.82171358
29Alkalosis (HP:0001948)2.80618720
30Polyuria (HP:0000103)2.78147236
31Respiratory failure (HP:0002878)2.75840277
32Decreased electroretinogram (ERG) amplitude (HP:0000654)2.71857731
33Increased serum lactate (HP:0002151)2.69331926
34Renal salt wasting (HP:0000127)2.68948825
35Myokymia (HP:0002411)2.64805285
36Delayed CNS myelination (HP:0002188)2.63692498
37Optic disc pallor (HP:0000543)2.61164925
38Abnormal respiratory motile cilium physiology (HP:0012261)2.45809658
39Lactic acidosis (HP:0003128)2.41789766
40Pigmentary retinal degeneration (HP:0001146)2.40044260
41Abnormal urine output (HP:0012590)2.35876444
42Muscle fiber atrophy (HP:0100295)2.35012073
43Abnormal rod and cone electroretinograms (HP:0008323)2.30947937
44Fair hair (HP:0002286)2.30560556
45Leukodystrophy (HP:0002415)2.30401296
46Abnormality of the prostate (HP:0008775)2.26935070
47Hypoplasia of the capital femoral epiphysis (HP:0003090)2.25560114
48Congenital stationary night blindness (HP:0007642)2.22336799
49Infantile muscular hypotonia (HP:0008947)2.20727813
50Increased IgM level (HP:0003496)2.14887751
51Medial flaring of the eyebrow (HP:0010747)2.12151314
52Absent speech (HP:0001344)2.10461211
53Hypoproteinemia (HP:0003075)2.10022736
54Abnormality of renal excretion (HP:0011036)2.09252224
55Absent/shortened dynein arms (HP:0200106)2.07774874
56Dynein arm defect of respiratory motile cilia (HP:0012255)2.07774874
57Woolly hair (HP:0002224)2.05812525
58Polyphagia (HP:0002591)2.04127940
59Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.01540472
60Degeneration of the lateral corticospinal tracts (HP:0002314)2.01540472
61CNS demyelination (HP:0007305)2.00725233
62Hemoptysis (HP:0002105)1.99535885
63Type II lissencephaly (HP:0007260)1.98420741
64Periorbital edema (HP:0100539)1.98171488
65Autoimmune thrombocytopenia (HP:0001973)1.97944883
66Absent epiphyses (HP:0010577)1.92079307
67Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.92079307
68Oligomenorrhea (HP:0000876)1.88348079
69Clumsiness (HP:0002312)1.88226775
70Rhinitis (HP:0012384)1.88215672
71Occipital encephalocele (HP:0002085)1.88149072
72Facial edema (HP:0000282)1.86944268
73Chronic bronchitis (HP:0004469)1.85657710
74Hypoplasia of the pons (HP:0012110)1.84397318
75Macrocytic anemia (HP:0001972)1.84013682
76Tetany (HP:0001281)1.83522372
77Abnormal hemoglobin (HP:0011902)1.82587195
78Abnormality of B cell number (HP:0010975)1.81844792
79Hemiparesis (HP:0001269)1.80476686
80Increased purine levels (HP:0004368)1.79194714
81Hyperuricemia (HP:0002149)1.79194714
82Hypothermia (HP:0002045)1.77915277
83Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.75357008
84Abnormal pancreas size (HP:0012094)1.75212046
85Exercise intolerance (HP:0003546)1.72305737
86Decreased central vision (HP:0007663)1.71308486
87Poor head control (HP:0002421)1.69753547
88Psychosis (HP:0000709)1.68542413
89Restlessness (HP:0000711)1.68081863
90IgG deficiency (HP:0004315)1.67484026
91Microretrognathia (HP:0000308)1.65661226
92Abnormality of the pons (HP:0007361)1.65553349
93Confusion (HP:0001289)1.65116543
94Failure to thrive in infancy (HP:0001531)1.64552910
95Increased hepatocellular lipid droplets (HP:0006565)1.64082111
96Prostate neoplasm (HP:0100787)1.63983997
97Aplasia/Hypoplasia of the uvula (HP:0010293)1.63928502
98Absent thumb (HP:0009777)1.63860886
99Gliosis (HP:0002171)1.63651252
100X-linked dominant inheritance (HP:0001423)1.63606434

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TLK15.27751117
2ZAK4.10535422
3TIE13.74254309
4BCKDK3.08544220
5KIT3.07042842
6STK162.72211270
7MAP3K122.49556818
8PHKG22.28777234
9PHKG12.28777234
10GRK12.21099433
11EIF2AK12.13819647
12EPHB22.07431136
13PINK11.93327439
14MAP4K11.89882457
15WNK41.87490740
16MAP3K111.79278603
17MAP4K21.74930181
18BMPR21.71145169
19AKT31.64812143
20KDR1.46744410
21TEC1.46386117
22CDK81.41736749
23ARAF1.36308294
24DYRK21.30273875
25SRPK11.29478349
26FER1.27582211
27FES1.25692473
28RPS6KA51.24214730
29ADRBK21.23685240
30KSR11.16875577
31NUAK11.13563214
32PIK3CA1.12295641
33TAOK31.11778934
34BMPR1B1.10499148
35INSRR1.07902945
36MYLK1.06040411
37BLK1.04996944
38TXK1.03030958
39SYK1.01956455
40IKBKE1.00363612
41CSF1R0.97132325
42STK390.96030907
43DAPK30.94429932
44WNK30.93408979
45CAMKK20.90513637
46CDK190.87627541
47TYRO30.85672700
48RPS6KA40.79849527
49MAP3K90.79750630
50LYN0.77211863
51OXSR10.76773394
52VRK10.74788164
53BRAF0.73380785
54FRK0.70249639
55ATR0.69800278
56MATK0.67787693
57TSSK60.66276578
58JAK30.66076112
59IKBKB0.65810820
60VRK20.65524263
61MAPK130.56382695
62ERBB20.53520284
63AURKB0.52691654
64TYK20.52642434
65MINK10.52445559
66CAMKK10.50845255
67FGFR40.50644736
68PRKCD0.48974016
69PIM20.47748249
70PRKCQ0.47507836
71MAPK150.46950503
72PRKACA0.46639300
73ITK0.46611395
74DAPK10.44523581
75OBSCN0.44382854
76MOS0.43813528
77CAMK2G0.41680377
78TNK20.41032800
79CHEK20.40516923
80MAPK120.39750199
81ILK0.39382733
82MARK10.38728473
83PRKG10.38676524
84PIM10.37995067
85SIK30.37015402
86CSNK1A10.35806545
87LCK0.33419078
88GRK60.32616786
89CAMK2A0.32414724
90PRKCA0.31897009
91AURKA0.31895331
92FYN0.31727918
93CSNK1G30.28973570
94PRKCI0.28869200
95MAP2K60.28590066
96CSNK1A1L0.27634054
97EIF2AK20.26634849
98ROCK10.25763181
99CSNK2A20.25572742
100SCYL20.25113711

Predicted pathways (KEGG)

RankGene SetZ-score
1Asthma_Homo sapiens_hsa053105.28673843
2Allograft rejection_Homo sapiens_hsa053304.22983034
3Autoimmune thyroid disease_Homo sapiens_hsa053204.07252631
4Graft-versus-host disease_Homo sapiens_hsa053323.94905679
5Intestinal immune network for IgA production_Homo sapiens_hsa046723.62978356
6Type I diabetes mellitus_Homo sapiens_hsa049403.39801872
7Oxidative phosphorylation_Homo sapiens_hsa001903.17255535
8Systemic lupus erythematosus_Homo sapiens_hsa053222.64254678
9Parkinsons disease_Homo sapiens_hsa050122.60013097
10Ribosome_Homo sapiens_hsa030102.40032856
11Antigen processing and presentation_Homo sapiens_hsa046122.22586147
12Proteasome_Homo sapiens_hsa030502.20087609
13Staphylococcus aureus infection_Homo sapiens_hsa051502.15094728
14Viral myocarditis_Homo sapiens_hsa054162.04161794
15Sulfur metabolism_Homo sapiens_hsa009201.99210631
16Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.90784413
17Huntingtons disease_Homo sapiens_hsa050161.86087033
18Alzheimers disease_Homo sapiens_hsa050101.81912608
19Rheumatoid arthritis_Homo sapiens_hsa053231.81614146
20Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.79744359
21Leishmaniasis_Homo sapiens_hsa051401.64534319
22Cardiac muscle contraction_Homo sapiens_hsa042601.63356041
23Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.61584556
24alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.46676095
25Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.38473926
26Linoleic acid metabolism_Homo sapiens_hsa005911.24363869
27RNA polymerase_Homo sapiens_hsa030201.20820972
28Phototransduction_Homo sapiens_hsa047441.08869812
29Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.07589745
30Sulfur relay system_Homo sapiens_hsa041221.02701363
31Cyanoamino acid metabolism_Homo sapiens_hsa004601.01334905
32Nitrogen metabolism_Homo sapiens_hsa009100.97866937
33Alcoholism_Homo sapiens_hsa050340.95345049
34Nucleotide excision repair_Homo sapiens_hsa034200.95259577
35RNA degradation_Homo sapiens_hsa030180.94182701
36Nicotine addiction_Homo sapiens_hsa050330.91941475
37Mismatch repair_Homo sapiens_hsa034300.84508374
38Phagosome_Homo sapiens_hsa041450.79072580
39Collecting duct acid secretion_Homo sapiens_hsa049660.78148522
40Maturity onset diabetes of the young_Homo sapiens_hsa049500.71063582
41Vitamin B6 metabolism_Homo sapiens_hsa007500.69647143
42Fat digestion and absorption_Homo sapiens_hsa049750.69101264
43Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.64580392
44Fanconi anemia pathway_Homo sapiens_hsa034600.63466087
45Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.59737967
46Spliceosome_Homo sapiens_hsa030400.59267086
47Caffeine metabolism_Homo sapiens_hsa002320.56696502
48Tryptophan metabolism_Homo sapiens_hsa003800.55662117
49Tuberculosis_Homo sapiens_hsa051520.54939268
50Ether lipid metabolism_Homo sapiens_hsa005650.52602945
51Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.51311915
52Toxoplasmosis_Homo sapiens_hsa051450.51155761
53Hematopoietic cell lineage_Homo sapiens_hsa046400.50038494
54Arachidonic acid metabolism_Homo sapiens_hsa005900.49142827
55Morphine addiction_Homo sapiens_hsa050320.48593092
56Butanoate metabolism_Homo sapiens_hsa006500.47620918
57Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.47613683
58Purine metabolism_Homo sapiens_hsa002300.47074706
59DNA replication_Homo sapiens_hsa030300.44049370
60Olfactory transduction_Homo sapiens_hsa047400.41543604
61Insulin secretion_Homo sapiens_hsa049110.41264228
62Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.40960391
63Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.39604729
64Homologous recombination_Homo sapiens_hsa034400.39476087
65Folate biosynthesis_Homo sapiens_hsa007900.39291741
66GABAergic synapse_Homo sapiens_hsa047270.37326958
67Herpes simplex infection_Homo sapiens_hsa051680.33404945
68Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.33166528
69Pyruvate metabolism_Homo sapiens_hsa006200.31874103
70Chemical carcinogenesis_Homo sapiens_hsa052040.30682715
71Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.29682770
72Metabolic pathways_Homo sapiens_hsa011000.28603421
73Arginine and proline metabolism_Homo sapiens_hsa003300.28330494
74Protein export_Homo sapiens_hsa030600.26963616
75Retinol metabolism_Homo sapiens_hsa008300.26546866
76Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.26070786
77Basal transcription factors_Homo sapiens_hsa030220.25668284
78Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.25294894
79Fatty acid degradation_Homo sapiens_hsa000710.25118052
80Fatty acid elongation_Homo sapiens_hsa000620.24667426
81Pentose and glucuronate interconversions_Homo sapiens_hsa000400.24198150
82Ovarian steroidogenesis_Homo sapiens_hsa049130.23216640
83Primary bile acid biosynthesis_Homo sapiens_hsa001200.22813239
84Pyrimidine metabolism_Homo sapiens_hsa002400.22260744
85African trypanosomiasis_Homo sapiens_hsa051430.21883847
86Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.21363273
87NOD-like receptor signaling pathway_Homo sapiens_hsa046210.20938776
88Salivary secretion_Homo sapiens_hsa049700.20853206
89Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.20304640
90Glutathione metabolism_Homo sapiens_hsa004800.19993410
91Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.19520979
92Primary immunodeficiency_Homo sapiens_hsa053400.19243344
93Serotonergic synapse_Homo sapiens_hsa047260.18895905
94Bile secretion_Homo sapiens_hsa049760.18651298
95Histidine metabolism_Homo sapiens_hsa003400.18284025
96Taste transduction_Homo sapiens_hsa047420.16621303
97Epstein-Barr virus infection_Homo sapiens_hsa051690.16533189
98Steroid hormone biosynthesis_Homo sapiens_hsa001400.15637194
99Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.15136779
100Vascular smooth muscle contraction_Homo sapiens_hsa042700.14276271

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