PSMD4P1

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
1oxygen transport (GO:0015671)5.84743128
2positive regulation of prostaglandin secretion (GO:0032308)5.59272387
3proteasome assembly (GO:0043248)5.19384228
4gas transport (GO:0015669)4.85171242
5rRNA modification (GO:0000154)4.53880716
6regulation of prostaglandin secretion (GO:0032306)4.47954920
7ATP synthesis coupled proton transport (GO:0015986)4.46751792
8energy coupled proton transport, down electrochemical gradient (GO:0015985)4.46751792
9positive regulation of heat generation (GO:0031652)4.23327946
10ribosomal small subunit assembly (GO:0000028)4.19266209
11NADH dehydrogenase complex assembly (GO:0010257)4.05586961
12mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.05586961
13mitochondrial respiratory chain complex I assembly (GO:0032981)4.05586961
14positive regulation of icosanoid secretion (GO:0032305)3.98101909
15DNA deamination (GO:0045006)3.96775156
16maturation of 5.8S rRNA (GO:0000460)3.87956594
17positive regulation of fatty acid transport (GO:2000193)3.86792649
18regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.84507083
19regulation of mitotic spindle checkpoint (GO:1903504)3.84507083
20S-adenosylmethionine metabolic process (GO:0046500)3.83716190
21aspartate family amino acid biosynthetic process (GO:0009067)3.79273834
22rRNA methylation (GO:0031167)3.78474336
23ribosomal large subunit biogenesis (GO:0042273)3.78284475
24regulation of fever generation (GO:0031620)3.75046944
25protein-cofactor linkage (GO:0018065)3.74543543
26mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.72122600
27protein complex biogenesis (GO:0070271)3.68595829
28mannosylation (GO:0097502)3.67079267
29water-soluble vitamin biosynthetic process (GO:0042364)3.66943697
30protein neddylation (GO:0045116)3.65847582
31mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.58530563
32ubiquinone biosynthetic process (GO:0006744)3.55034026
33transcription elongation from RNA polymerase III promoter (GO:0006385)3.47217714
34termination of RNA polymerase III transcription (GO:0006386)3.47217714
35fucose catabolic process (GO:0019317)3.40413295
36L-fucose metabolic process (GO:0042354)3.40413295
37L-fucose catabolic process (GO:0042355)3.40413295
38iron-sulfur cluster assembly (GO:0016226)3.38125909
39metallo-sulfur cluster assembly (GO:0031163)3.38125909
40viral transcription (GO:0019083)3.33840542
41preassembly of GPI anchor in ER membrane (GO:0016254)3.27813005
42electron transport chain (GO:0022900)3.27714294
43translational termination (GO:0006415)3.27593656
44respiratory electron transport chain (GO:0022904)3.24766736
45regulation of heat generation (GO:0031650)3.23557683
46heart process (GO:0003015)3.23136074
47heart contraction (GO:0060047)3.23136074
48mitochondrial respiratory chain complex assembly (GO:0033108)3.19029632
49deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.17532070
50homocysteine metabolic process (GO:0050667)3.15852607
51response to xenobiotic stimulus (GO:0009410)3.15820850
52endothelium development (GO:0003158)3.07315185
53interleukin-1-mediated signaling pathway (GO:0070498)3.05168286
54translational elongation (GO:0006414)3.02941199
55SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.98773168
56cotranslational protein targeting to membrane (GO:0006613)2.98123014
57methionine biosynthetic process (GO:0009086)2.96184779
58inner mitochondrial membrane organization (GO:0007007)2.91029820
59protein targeting to ER (GO:0045047)2.90907546
60mitochondrial RNA metabolic process (GO:0000959)2.89047347
61establishment of protein localization to mitochondrial membrane (GO:0090151)2.88161926
62ATP biosynthetic process (GO:0006754)2.88091120
63GMP metabolic process (GO:0046037)2.85883400
64protein localization to endoplasmic reticulum (GO:0070972)2.84849671
65branched-chain amino acid catabolic process (GO:0009083)2.83618115
66ubiquinone metabolic process (GO:0006743)2.81203115
67L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.79769060
68purine nucleoside triphosphate biosynthetic process (GO:0009145)2.79433740
69quinone biosynthetic process (GO:1901663)2.78377449
70regulation of icosanoid secretion (GO:0032303)2.76836249
71ribosomal small subunit biogenesis (GO:0042274)2.75709796
72purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.74315865
73regulation of cellular amino acid metabolic process (GO:0006521)2.73888620
74negative regulation of mast cell activation (GO:0033004)2.72652716
75phosphatidylinositol acyl-chain remodeling (GO:0036149)2.72634057
76ketone body metabolic process (GO:1902224)2.71728075
77establishment of protein localization to endoplasmic reticulum (GO:0072599)2.71048471
78translational initiation (GO:0006413)2.70484854
79hydrogen ion transmembrane transport (GO:1902600)2.68455619
80transcription from mitochondrial promoter (GO:0006390)2.67939174
81cellular component biogenesis (GO:0044085)2.67078904
82regulation of interleukin-8 secretion (GO:2000482)2.66966166
83translation (GO:0006412)2.65166078
84maturation of SSU-rRNA (GO:0030490)2.64106024
85GPI anchor biosynthetic process (GO:0006506)2.64052764
86AMP metabolic process (GO:0046033)2.63815175
87piRNA metabolic process (GO:0034587)2.63713673
88activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO2.63134776
89purine-containing compound salvage (GO:0043101)2.62526952
90positive regulation of interleukin-8 secretion (GO:2000484)2.61585919
91respiratory chain complex IV assembly (GO:0008535)2.60571446
92cellular ketone body metabolic process (GO:0046950)2.60406029
93oxidative phosphorylation (GO:0006119)2.60243219
94protein targeting to mitochondrion (GO:0006626)2.59329066
95proton transport (GO:0015992)2.58578382
96hydrogen transport (GO:0006818)2.55922968
97replication fork processing (GO:0031297)2.55656011
982-deoxyribonucleotide biosynthetic process (GO:0009265)2.54561606
99deoxyribose phosphate biosynthetic process (GO:0046385)2.54561606
100DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.53860603

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GABP_17652178_ChIP-ChIP_JURKAT_Human4.60536021
2ELF1_17652178_ChIP-ChIP_JURKAT_Human4.39674115
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.23627697
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.80337126
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.66468330
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.65508761
7VDR_22108803_ChIP-Seq_LS180_Human3.48292711
8BP1_19119308_ChIP-ChIP_Hs578T_Human3.17422804
9IRF8_22096565_ChIP-ChIP_GC-B_Human2.99987358
10ETS1_20019798_ChIP-Seq_JURKAT_Human2.97618792
11ZNF274_21170338_ChIP-Seq_K562_Hela2.94613143
12HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.80324089
13SRF_21415370_ChIP-Seq_HL-1_Mouse2.76931569
14VDR_23849224_ChIP-Seq_CD4+_Human2.63229930
15MYC_18555785_ChIP-Seq_MESCs_Mouse2.30485494
16CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.27794722
17FOXP3_21729870_ChIP-Seq_TREG_Human2.23520281
18NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.01569127
19PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.95967246
20MYC_18940864_ChIP-ChIP_HL60_Human1.85846864
21MYC_18358816_ChIP-ChIP_MESCs_Mouse1.78962971
22TP53_22573176_ChIP-Seq_HFKS_Human1.73957917
23CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.73207184
24EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.72137169
25FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.72093062
26FLI1_27457419_Chip-Seq_LIVER_Mouse1.71062524
27ELK1_19687146_ChIP-ChIP_HELA_Human1.69104470
28EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.68376708
29LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.61682275
30CREB1_15753290_ChIP-ChIP_HEK293T_Human1.58014510
31IGF1R_20145208_ChIP-Seq_DFB_Human1.54612374
32RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.54265884
33FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.53790168
34AUTS2_25519132_ChIP-Seq_293T-REX_Human1.52561482
35GABP_19822575_ChIP-Seq_HepG2_Human1.52205696
36SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.49025683
37E2F1_18555785_ChIP-Seq_MESCs_Mouse1.39779145
38TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.35911766
39AR_20517297_ChIP-Seq_VCAP_Human1.33858587
40HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.32196483
41CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.31166814
42THAP11_20581084_ChIP-Seq_MESCs_Mouse1.30756173
43MYC_19030024_ChIP-ChIP_MESCs_Mouse1.29205093
44PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.28617997
45NOTCH1_21737748_ChIP-Seq_TLL_Human1.28280022
46GATA2_21666600_ChIP-Seq_HMVEC_Human1.26464434
47MYC_19079543_ChIP-ChIP_MESCs_Mouse1.26055877
48TTF2_22483619_ChIP-Seq_HELA_Human1.26002082
49GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.24726206
50MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.23771456
51XRN2_22483619_ChIP-Seq_HELA_Human1.23110364
52IRF1_19129219_ChIP-ChIP_H3396_Human1.22873312
53HOXB4_20404135_ChIP-ChIP_EML_Mouse1.22268043
54KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.21012873
55KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.21012873
56KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.21012873
57DCP1A_22483619_ChIP-Seq_HELA_Human1.19647078
58RBPJ_21746931_ChIP-Seq_IB4_Human1.16150320
59PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.14627293
60GATA6_21074721_ChIP-Seq_CACO-2_Human1.14374967
61PCGF2_27294783_Chip-Seq_ESCs_Mouse1.12837719
62CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.10982321
63MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.10750721
64NANOG_20526341_ChIP-Seq_ESCs_Human1.09300820
65GATA3_21878914_ChIP-Seq_MCF-7_Human1.09107978
66GATA1_19941826_ChIP-Seq_K562_Human1.08718999
67FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.06789099
68GATA3_26560356_Chip-Seq_TH2_Human1.06704810
69IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.05936955
70MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.05377236
71CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.05213257
72SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.02779110
73EGR1_23403033_ChIP-Seq_LIVER_Mouse1.01424477
74ELK1_22589737_ChIP-Seq_MCF10A_Human0.98660496
75PHF8_20622853_ChIP-Seq_HELA_Human0.98475626
76EGR1_19032775_ChIP-ChIP_M12_Human0.97726502
77EWS_26573619_Chip-Seq_HEK293_Human0.95595516
78CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.95327829
79TAF2_19829295_ChIP-Seq_ESCs_Human0.94454898
80CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.93701580
81HOXB7_26014856_ChIP-Seq_BT474_Human0.93390286
82RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.93353679
83SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.93243344
84P53_21459846_ChIP-Seq_SAOS-2_Human0.91996288
85CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.91955430
86FOXH1_21741376_ChIP-Seq_ESCs_Human0.91390806
87HTT_18923047_ChIP-ChIP_STHdh_Human0.90925342
88ZNF263_19887448_ChIP-Seq_K562_Human0.90775368
89BCL6_27268052_Chip-Seq_Bcells_Human0.90468280
90ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.89353502
91BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.88515592
92LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.88113975
93ERG_20887958_ChIP-Seq_HPC-7_Mouse0.87595279
94MYC_19829295_ChIP-Seq_ESCs_Human0.86470618
95SPI1_20517297_ChIP-Seq_HL60_Human0.86226077
96EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.86111108
97EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.86098302
98FOXA1_27270436_Chip-Seq_PROSTATE_Human0.85557660
99FOXA1_25329375_ChIP-Seq_VCAP_Human0.85557660
100TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.83860558

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis5.15509663
2MP0003646_muscle_fatigue3.89044623
3MP0002102_abnormal_ear_morphology3.80381754
4MP0002138_abnormal_hepatobiliary_system3.69352933
5MP0000015_abnormal_ear_pigmentation3.58151369
6MP0004147_increased_porphyrin_level3.57177697
7MP0005377_hearing/vestibular/ear_phenot3.24539414
8MP0003878_abnormal_ear_physiology3.24539414
9MP0000372_irregular_coat_pigmentation3.16008764
10MP0004145_abnormal_muscle_electrophysio3.15736695
11MP0003011_delayed_dark_adaptation2.84040834
12MP0005167_abnormal_blood-brain_barrier2.52964765
13MP0003186_abnormal_redox_activity2.48977293
14MP0002095_abnormal_skin_pigmentation2.48495213
15MP0002736_abnormal_nociception_after2.04145890
16MP0001968_abnormal_touch/_nociception1.91961134
17MP0004885_abnormal_endolymph1.82060528
18MP0005075_abnormal_melanosome_morpholog1.78297615
19MP0008875_abnormal_xenobiotic_pharmacok1.71306408
20MP0002148_abnormal_hypersensitivity_rea1.65471548
21MP0003303_peritoneal_inflammation1.61835321
22MP0005397_hematopoietic_system_phenotyp1.56309222
23MP0001545_abnormal_hematopoietic_system1.56309222
24MP0001661_extended_life_span1.55810669
25MP0002837_dystrophic_cardiac_calcinosis1.48726721
26MP0006036_abnormal_mitochondrial_physio1.46859135
27MP0005670_abnormal_white_adipose1.46738338
28MP0006054_spinal_hemorrhage1.46262921
29MP0000371_diluted_coat_color1.41321839
30MP0004782_abnormal_surfactant_physiolog1.35078488
31MP0005671_abnormal_response_to1.32106140
32MP0009764_decreased_sensitivity_to1.31280904
33MP0003724_increased_susceptibility_to1.25003395
34MP0002332_abnormal_exercise_endurance1.24596676
35MP0005330_cardiomyopathy1.23249596
36MP0006072_abnormal_retinal_apoptosis1.22560180
37MP0010368_abnormal_lymphatic_system1.22083974
38MP0004233_abnormal_muscle_weight1.19565873
39MP0008872_abnormal_physiological_respon1.16468458
40MP0005083_abnormal_biliary_tract1.14803591
41MP0005084_abnormal_gallbladder_morpholo1.14362087
42MP0001324_abnormal_eye_pigmentation1.14001928
43MP0003828_pulmonary_edema1.11866138
44MP0009333_abnormal_splenocyte_physiolog1.10213209
45MP0005636_abnormal_mineral_homeostasis1.06950956
46MP0003718_maternal_effect1.05118366
47MP0003436_decreased_susceptibility_to1.04008819
48MP0003136_yellow_coat_color1.01807009
49MP0005464_abnormal_platelet_physiology1.01457780
50MP0004215_abnormal_myocardial_fiber0.99635499
51MP0008058_abnormal_DNA_repair0.99441371
52MP0000749_muscle_degeneration0.98675546
53MP0005379_endocrine/exocrine_gland_phen0.97002148
54MP0008775_abnormal_heart_ventricle0.95230249
55MP0004036_abnormal_muscle_relaxation0.91717862
56MP0009278_abnormal_bone_marrow0.91660622
57MP0005620_abnormal_muscle_contractility0.91424528
58MP0000230_abnormal_systemic_arterial0.90280191
59MP0003950_abnormal_plasma_membrane0.88256035
60MP0002269_muscular_atrophy0.87006216
61MP0009384_cardiac_valve_regurgitation0.85440030
62MP0008007_abnormal_cellular_replicative0.84123065
63MP0005253_abnormal_eye_physiology0.83289876
64MP0005551_abnormal_eye_electrophysiolog0.83179469
65MP0000343_altered_response_to0.82908538
66MP0001764_abnormal_homeostasis0.82883020
67MP0005389_reproductive_system_phenotype0.81890831
68MP0002972_abnormal_cardiac_muscle0.81836819
69MP0005319_abnormal_enzyme/_coenzyme0.81703341
70MP0001533_abnormal_skeleton_physiology0.80866893
71MP0004142_abnormal_muscle_tone0.80388876
72MP0003693_abnormal_embryo_hatching0.79875460
73MP0001879_abnormal_lymphatic_vessel0.79627889
74MP0003191_abnormal_cellular_cholesterol0.78539918
75MP0001544_abnormal_cardiovascular_syste0.77749943
76MP0005385_cardiovascular_system_phenoty0.77749943
77MP0002876_abnormal_thyroid_physiology0.77147287
78MP0006035_abnormal_mitochondrial_morpho0.75132077
79MP0005595_abnormal_vascular_smooth0.72356112
80MP0001873_stomach_inflammation0.72305568
81MP0001800_abnormal_humoral_immune0.72186317
82MP0005266_abnormal_metabolism0.70954272
83MP0005171_absent_coat_pigmentation0.70356288
84MP0005000_abnormal_immune_tolerance0.69573226
85MP0002723_abnormal_immune_serum0.69249541
86MP0000613_abnormal_salivary_gland0.68954211
87MP0005174_abnormal_tail_pigmentation0.68064964
88MP0005646_abnormal_pituitary_gland0.66796017
89MP0004957_abnormal_blastocyst_morpholog0.65362899
90MP0004130_abnormal_muscle_cell0.65204895
91MP0003195_calcinosis0.62399080
92MP0000465_gastrointestinal_hemorrhage0.62353706
93MP0006138_congestive_heart_failure0.61444339
94MP0002177_abnormal_outer_ear0.61323474
95MP0005410_abnormal_fertilization0.61047024
96MP0002452_abnormal_antigen_presenting0.60823934
97MP0006292_abnormal_olfactory_placode0.60370758
98MP0003567_abnormal_fetal_cardiomyocyte0.59885554
99MP0000538_abnormal_urinary_bladder0.58590363
100MP0009643_abnormal_urine_homeostasis0.58172479

Predicted human phenotypes

RankGene SetZ-score
1Abnormal hemoglobin (HP:0011902)5.92196242
2Abnormality of the heme biosynthetic pathway (HP:0010472)5.27032629
3Acute necrotizing encephalopathy (HP:0006965)5.10676794
4Acute encephalopathy (HP:0006846)4.48355085
5Abnormal mitochondria in muscle tissue (HP:0008316)4.45817014
6Increased CSF lactate (HP:0002490)4.33354917
7Mitochondrial inheritance (HP:0001427)4.32004353
8Progressive macrocephaly (HP:0004481)4.17018988
93-Methylglutaconic aciduria (HP:0003535)4.14942955
10Absent rod-and cone-mediated responses on ERG (HP:0007688)3.98290837
11Abnormality of cells of the erythroid lineage (HP:0012130)3.90890423
12Abnormal number of erythroid precursors (HP:0012131)3.84829086
13Hepatocellular necrosis (HP:0001404)3.82812509
14Cerebral edema (HP:0002181)3.71837271
15Congenital, generalized hypertrichosis (HP:0004540)3.36340695
16Hepatic necrosis (HP:0002605)3.23690638
17Pallor (HP:0000980)3.17627872
18Increased hepatocellular lipid droplets (HP:0006565)3.11256710
19Lipid accumulation in hepatocytes (HP:0006561)3.05766420
20Optic disc pallor (HP:0000543)2.91623738
21Abnormal rod and cone electroretinograms (HP:0008323)2.90417456
22Lactic acidosis (HP:0003128)2.86770173
23Attenuation of retinal blood vessels (HP:0007843)2.84527462
24Increased serum lactate (HP:0002151)2.79519175
25Hematochezia (HP:0002573)2.78418817
26Respiratory failure (HP:0002878)2.78265952
27Albinism (HP:0001022)2.73444605
28Abnormality of alanine metabolism (HP:0010916)2.73171961
29Hyperalaninemia (HP:0003348)2.73171961
30Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.73171961
31Muscle fiber inclusion bodies (HP:0100299)2.59533760
32Nemaline bodies (HP:0003798)2.53643464
33Pancreatic cysts (HP:0001737)2.47491879
34Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.46106516
35Type II lissencephaly (HP:0007260)2.44866243
36True hermaphroditism (HP:0010459)2.41696502
37Myoglobinuria (HP:0002913)2.36090879
38Microcytic anemia (HP:0001935)2.32916094
39Renal Fanconi syndrome (HP:0001994)2.32112365
40Lethargy (HP:0001254)2.31238200
41Pancreatic fibrosis (HP:0100732)2.29956647
42Exercise intolerance (HP:0003546)2.28894537
43Abolished electroretinogram (ERG) (HP:0000550)2.28474858
44Prostate neoplasm (HP:0100787)2.24183042
45Anencephaly (HP:0002323)2.23433892
46Asymmetric septal hypertrophy (HP:0001670)2.22810969
47Abnormality of the prostate (HP:0008775)2.22343095
48Gastrointestinal infarctions (HP:0005244)2.21790491
49Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.20441316
50Rhabdomyolysis (HP:0003201)2.19685710
51Congenital stationary night blindness (HP:0007642)2.18241846
52Increased intramyocellular lipid droplets (HP:0012240)2.16571254
53Decreased central vision (HP:0007663)2.16088211
54Degeneration of anterior horn cells (HP:0002398)2.13115855
55Abnormality of the anterior horn cell (HP:0006802)2.13115855
56Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.13044312
57Type 2 muscle fiber atrophy (HP:0003554)2.12972413
58Hypertensive crisis (HP:0100735)2.10113293
59Tetany (HP:0001281)2.07176536
60Exertional dyspnea (HP:0002875)2.06139906
61Increased density of long bones (HP:0006392)2.05605195
62Abnormality of midbrain morphology (HP:0002418)2.03027431
63Molar tooth sign on MRI (HP:0002419)2.03027431
64Entropion (HP:0000621)2.01281242
65Congenital hepatic fibrosis (HP:0002612)2.00597341
66Pendular nystagmus (HP:0012043)2.00039038
67CNS demyelination (HP:0007305)1.98146442
68Severe muscular hypotonia (HP:0006829)1.97145537
69Homocystinuria (HP:0002156)1.95472767
70Abnormality of homocysteine metabolism (HP:0010919)1.95472767
71Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.94236594
72Rectal prolapse (HP:0002035)1.93135149
73Increased muscle lipid content (HP:0009058)1.91783285
74Leukodystrophy (HP:0002415)1.89986716
75Abnormality of the fovea (HP:0000493)1.89582239
76Abnormality of transition element cation homeostasis (HP:0011030)1.87635237
77Paralysis (HP:0003470)1.87466430
78Sclerocornea (HP:0000647)1.84900250
79Aplastic anemia (HP:0001915)1.82135058
80Pancytopenia (HP:0001876)1.81977205
81Abnormality of the renal cortex (HP:0011035)1.79103997
82Hypomagnesemia (HP:0002917)1.78053853
83Ocular albinism (HP:0001107)1.76654679
84Elevated erythrocyte sedimentation rate (HP:0003565)1.76156380
85Round ear (HP:0100830)1.73370428
86Cerebral hemorrhage (HP:0001342)1.72185191
87Blindness (HP:0000618)1.69401198
88Hypochromic anemia (HP:0001931)1.69358504
89Opisthotonus (HP:0002179)1.69192553
90Type I transferrin isoform profile (HP:0003642)1.68340253
91Microretrognathia (HP:0000308)1.65668593
92Increased corneal curvature (HP:0100692)1.65487556
93Keratoconus (HP:0000563)1.65487556
94X-linked dominant inheritance (HP:0001423)1.64345848
95Hypoplasia of the fovea (HP:0007750)1.63680459
96Aplasia/Hypoplasia of the fovea (HP:0008060)1.63680459
97Biliary tract neoplasm (HP:0100574)1.63433148
98Vacuolated lymphocytes (HP:0001922)1.61934800
99Pulmonary fibrosis (HP:0002206)1.61781107
100Optic nerve coloboma (HP:0000588)1.60757704

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TIE15.24767636
2EIF2AK14.30849575
3BCKDK3.64120962
4PDK23.07419378
5EIF2AK32.83916019
6NEK12.73720594
7NUAK12.47434157
8TGFBR22.13278736
9OBSCN2.01888878
10NME22.01721983
11PHKG22.00386030
12PHKG12.00386030
13MAP2K21.94568818
14TRPM71.89936514
15TESK21.85967424
16FRK1.84236090
17VRK21.83128565
18TGFBR11.79214902
19TLK11.71889164
20ADRBK21.66444341
21ABL21.62495821
22BMPR1B1.48802346
23GRK11.47816909
24BMPR21.39911865
25STK161.37469423
26FES1.37277601
27PTK2B1.28328986
28TXK1.22961464
29ADRBK11.21703558
30ZAK1.18962452
31KDR1.17695833
32BUB11.17124521
33IKBKB1.11194723
34BRD41.09401443
35MATK1.04452845
36PIM21.01820241
37PLK21.01402274
38PLK41.00378269
39STK390.99465411
40ACVR1B0.98915605
41MAP2K10.90396032
42TEC0.90377807
43JAK30.90006680
44STK30.83145443
45MAP3K130.80422834
46ERBB30.77641782
47MAPKAPK50.76108014
48GRK60.75903679
49NEK20.74935694
50TAF10.74785756
51PLK30.74368076
52SCYL20.73132192
53PRKCQ0.71821158
54CDK80.71714854
55GRK70.71485551
56VRK10.68619772
57FLT30.67835770
58TAOK30.67018327
59MOS0.66136852
60PAK20.66099370
61CAMK1D0.63931700
62RPS6KA50.62483386
63GRK50.62220472
64SYK0.61346375
65EIF2AK20.61104500
66PINK10.60721607
67WNK40.60345966
68OXSR10.58935579
69CAMK2D0.54160650
70CDC42BPA0.51037246
71PKN10.50950155
72TSSK60.50896393
73INSRR0.48309155
74MAP4K20.47862088
75KIT0.47389704
76PRKCD0.46324654
77IGF1R0.44543674
78RPS6KA60.43616983
79DAPK30.42043386
80SMG10.40364853
81PASK0.39583025
82MKNK10.37927394
83MAPK120.36878649
84RPS6KC10.35017276
85RPS6KL10.35017276
86CDK90.33129707
87CSNK2A20.32872806
88CAMKK20.31515648
89TTN0.31514756
90EGFR0.31338066
91EPHB20.30906309
92CSNK2A10.30610499
93PRKACA0.30504702
94PBK0.30428395
95PLK10.29957146
96WEE10.29688188
97PRKCA0.28643200
98CAMK2A0.26794340
99BMX0.25713467
100CSK0.25095114

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030103.66554091
2Oxidative phosphorylation_Homo sapiens_hsa001903.43525597
3Proteasome_Homo sapiens_hsa030503.42146607
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.33741929
5Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001303.25813871
6Parkinsons disease_Homo sapiens_hsa050123.15221651
7One carbon pool by folate_Homo sapiens_hsa006702.46895014
8RNA polymerase_Homo sapiens_hsa030202.26665741
9Glycosaminoglycan degradation_Homo sapiens_hsa005312.17149999
10Alzheimers disease_Homo sapiens_hsa050102.15284214
11Huntingtons disease_Homo sapiens_hsa050162.05422822
12Sulfur metabolism_Homo sapiens_hsa009202.01618709
13Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.95283058
14Asthma_Homo sapiens_hsa053101.91827668
15Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.88383384
16Linoleic acid metabolism_Homo sapiens_hsa005911.80855688
17Protein export_Homo sapiens_hsa030601.78741491
18Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.72129086
19Cysteine and methionine metabolism_Homo sapiens_hsa002701.70711010
20Fanconi anemia pathway_Homo sapiens_hsa034601.63980937
21alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.63552985
22Nitrogen metabolism_Homo sapiens_hsa009101.54769734
23Intestinal immune network for IgA production_Homo sapiens_hsa046721.52747224
24Cardiac muscle contraction_Homo sapiens_hsa042601.52267436
25Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.49619115
26Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.49002857
27Sulfur relay system_Homo sapiens_hsa041221.45225715
28Phototransduction_Homo sapiens_hsa047441.40760555
29Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.38216964
30Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.35626241
31Propanoate metabolism_Homo sapiens_hsa006401.35302907
32Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.33449276
33Ether lipid metabolism_Homo sapiens_hsa005651.29359683
34Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.27160053
35Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.26608261
36Pyrimidine metabolism_Homo sapiens_hsa002401.24383755
37Rheumatoid arthritis_Homo sapiens_hsa053231.23892844
38RNA degradation_Homo sapiens_hsa030181.19669819
39Basal transcription factors_Homo sapiens_hsa030221.14083213
40Selenocompound metabolism_Homo sapiens_hsa004501.13530348
41Tryptophan metabolism_Homo sapiens_hsa003801.13071510
42Purine metabolism_Homo sapiens_hsa002301.11293761
43Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.03195760
44Glutathione metabolism_Homo sapiens_hsa004800.98910754
45Collecting duct acid secretion_Homo sapiens_hsa049660.98388834
46Homologous recombination_Homo sapiens_hsa034400.98103915
47Arachidonic acid metabolism_Homo sapiens_hsa005900.97374943
48Peroxisome_Homo sapiens_hsa041460.97213492
49Allograft rejection_Homo sapiens_hsa053300.95547389
50Folate biosynthesis_Homo sapiens_hsa007900.95423878
51Metabolic pathways_Homo sapiens_hsa011000.92784926
52Graft-versus-host disease_Homo sapiens_hsa053320.92161419
53Base excision repair_Homo sapiens_hsa034100.88080525
54Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.87993120
55Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.87939266
56Caffeine metabolism_Homo sapiens_hsa002320.86949228
57RNA transport_Homo sapiens_hsa030130.83065065
58Autoimmune thyroid disease_Homo sapiens_hsa053200.81315610
59Hematopoietic cell lineage_Homo sapiens_hsa046400.79715879
60Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.78468031
61Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.76478950
62Chemical carcinogenesis_Homo sapiens_hsa052040.75071722
63SNARE interactions in vesicular transport_Homo sapiens_hsa041300.69616080
64Mismatch repair_Homo sapiens_hsa034300.65661302
65Nucleotide excision repair_Homo sapiens_hsa034200.63431522
66Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.61980475
67Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.61786593
68Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.61684597
69Primary bile acid biosynthesis_Homo sapiens_hsa001200.60877607
70Pentose phosphate pathway_Homo sapiens_hsa000300.60745519
71Tyrosine metabolism_Homo sapiens_hsa003500.59198783
72Fat digestion and absorption_Homo sapiens_hsa049750.56742526
73NF-kappa B signaling pathway_Homo sapiens_hsa040640.55662837
74Antigen processing and presentation_Homo sapiens_hsa046120.54111541
75Arginine and proline metabolism_Homo sapiens_hsa003300.53004582
76Phenylalanine metabolism_Homo sapiens_hsa003600.52509130
77Primary immunodeficiency_Homo sapiens_hsa053400.52293482
78p53 signaling pathway_Homo sapiens_hsa041150.51428450
79Lysosome_Homo sapiens_hsa041420.51165720
80Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.48838708
81Pyruvate metabolism_Homo sapiens_hsa006200.47599925
82Sphingolipid metabolism_Homo sapiens_hsa006000.45700790
83Malaria_Homo sapiens_hsa051440.44934381
84DNA replication_Homo sapiens_hsa030300.43717759
85Leishmaniasis_Homo sapiens_hsa051400.41451348
86Retinol metabolism_Homo sapiens_hsa008300.41260088
87ABC transporters_Homo sapiens_hsa020100.40393508
88Type I diabetes mellitus_Homo sapiens_hsa049400.40333984
89Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.39296533
90Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.37295217
91Glycerolipid metabolism_Homo sapiens_hsa005610.32813344
92RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.32761946
93Serotonergic synapse_Homo sapiens_hsa047260.32606498
94Mineral absorption_Homo sapiens_hsa049780.28832387
95Starch and sucrose metabolism_Homo sapiens_hsa005000.28328638
96Non-homologous end-joining_Homo sapiens_hsa034500.27619769
97Ovarian steroidogenesis_Homo sapiens_hsa049130.25015977
98Carbon metabolism_Homo sapiens_hsa012000.24626743
99Butanoate metabolism_Homo sapiens_hsa006500.23890101
100Epstein-Barr virus infection_Homo sapiens_hsa051690.23594323

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