PSMC1P2

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
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.57741988
2ATP synthesis coupled proton transport (GO:0015986)5.12957103
3energy coupled proton transport, down electrochemical gradient (GO:0015985)5.12957103
4establishment of protein localization to mitochondrial membrane (GO:0090151)4.89675385
5proteasome assembly (GO:0043248)4.82007166
6DNA deamination (GO:0045006)4.47185262
7L-methionine biosynthetic process from methylthioadenosine (GO:0019509)4.26789415
8regulation of cellular amino acid metabolic process (GO:0006521)4.00656494
9RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.98946356
10mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.94178574
11cullin deneddylation (GO:0010388)3.94028412
12negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.85816380
13electron transport chain (GO:0022900)3.79249296
14respiratory electron transport chain (GO:0022904)3.77485065
15mannosylation (GO:0097502)3.72104592
16DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.62114708
17protein neddylation (GO:0045116)3.61209380
18sequestering of actin monomers (GO:0042989)3.59338699
19L-methionine salvage (GO:0071267)3.58615832
20L-methionine biosynthetic process (GO:0071265)3.58615832
21amino acid salvage (GO:0043102)3.58615832
22signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.56682174
23signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.56682174
24signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.56682174
25preassembly of GPI anchor in ER membrane (GO:0016254)3.55562341
26signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.49715725
27intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.49715725
28positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.49144624
29negative regulation of heart rate (GO:0010459)3.48781092
30protein deneddylation (GO:0000338)3.47811992
31exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.46316660
32nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.44220955
33termination of RNA polymerase III transcription (GO:0006386)3.41706336
34transcription elongation from RNA polymerase III promoter (GO:0006385)3.41706336
35peptidyl-histidine modification (GO:0018202)3.41678421
36negative regulation of ligase activity (GO:0051352)3.41116158
37negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.41116158
38regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.38764314
39rRNA modification (GO:0000154)3.37338695
40signal transduction involved in DNA integrity checkpoint (GO:0072401)3.36928648
41signal transduction involved in DNA damage checkpoint (GO:0072422)3.36928648
42tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.35873615
43RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.35873615
44signal transduction involved in cell cycle checkpoint (GO:0072395)3.34126853
45GPI anchor biosynthetic process (GO:0006506)3.27380533
46antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.25988303
47mitochondrial respiratory chain complex I assembly (GO:0032981)3.21264765
48NADH dehydrogenase complex assembly (GO:0010257)3.21264765
49mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.21264765
50respiratory chain complex IV assembly (GO:0008535)3.16983009
51protein complex biogenesis (GO:0070271)3.14175457
52GPI anchor metabolic process (GO:0006505)3.09008409
53anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.08470059
54antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.08119541
55hydrogen ion transmembrane transport (GO:1902600)3.07177906
56deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.01377230
57fucose catabolic process (GO:0019317)2.99085288
58L-fucose metabolic process (GO:0042354)2.99085288
59L-fucose catabolic process (GO:0042355)2.99085288
60intracellular protein transmembrane import (GO:0044743)2.93836502
61inner mitochondrial membrane organization (GO:0007007)2.93108960
62maturation of 5.8S rRNA (GO:0000460)2.92983262
63positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.92774918
64regulation of cellular amine metabolic process (GO:0033238)2.91576168
65proton transport (GO:0015992)2.91220175
66cytidine metabolic process (GO:0046087)2.90505480
67cytidine catabolic process (GO:0006216)2.90505480
68cytidine deamination (GO:0009972)2.90505480
69hydrogen transport (GO:0006818)2.89890649
70chaperone-mediated protein transport (GO:0072321)2.86964001
71adult feeding behavior (GO:0008343)2.84675235
72regulation of transmission of nerve impulse (GO:0051969)2.84664460
73S-adenosylmethionine metabolic process (GO:0046500)2.84209014
74purine nucleoside triphosphate biosynthetic process (GO:0009145)2.82789997
75C-terminal protein lipidation (GO:0006501)2.82166418
76ATP biosynthetic process (GO:0006754)2.80671207
77positive regulation of ligase activity (GO:0051351)2.77788908
78purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.77622765
79histone H2A acetylation (GO:0043968)2.77129295
80mitochondrial respiratory chain complex assembly (GO:0033108)2.76176582
81water-soluble vitamin biosynthetic process (GO:0042364)2.76133433
82antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)2.71250594
83negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.70653750
84aldehyde catabolic process (GO:0046185)2.68860906
85DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.68792253
86GTP biosynthetic process (GO:0006183)2.67969365
87positive regulation of catecholamine secretion (GO:0033605)2.66507807
88DNA catabolic process, exonucleolytic (GO:0000738)2.66315127
89negative regulation of bone resorption (GO:0045779)2.64332121
90regulation of interleukin-8 secretion (GO:2000482)2.63785843
91methionine biosynthetic process (GO:0009086)2.62861758
92positive regulation of cell cycle arrest (GO:0071158)2.61439463
93C-terminal protein amino acid modification (GO:0018410)2.60402130
94cytochrome complex assembly (GO:0017004)2.57032325
95regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.52642862
96metallo-sulfur cluster assembly (GO:0031163)2.52312681
97iron-sulfur cluster assembly (GO:0016226)2.52312681
98purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)2.49273074
99mast cell degranulation (GO:0043303)2.49064855
100mast cell activation involved in immune response (GO:0002279)2.49064855

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GABP_17652178_ChIP-ChIP_JURKAT_Human4.35356478
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.19687128
3EST1_17652178_ChIP-ChIP_JURKAT_Human3.83030317
4SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.52993280
5NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.32986699
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.09861063
7ELF1_17652178_ChIP-ChIP_JURKAT_Human2.86647496
8HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.83794318
9CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.75427642
10VDR_23849224_ChIP-Seq_CD4+_Human2.72939648
11ZNF274_21170338_ChIP-Seq_K562_Hela2.47860135
12ETS1_20019798_ChIP-Seq_JURKAT_Human2.47050343
13VDR_22108803_ChIP-Seq_LS180_Human2.43906714
14ELK1_19687146_ChIP-ChIP_HELA_Human2.41601606
15E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.38130947
16FLI1_27457419_Chip-Seq_LIVER_Mouse2.32295161
17MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.31801415
18FOXP3_21729870_ChIP-Seq_TREG_Human2.28719404
19CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.18899811
20SRF_21415370_ChIP-Seq_HL-1_Mouse2.04521209
21CREB1_15753290_ChIP-ChIP_HEK293T_Human1.96622751
22PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.93757525
23PADI4_21655091_ChIP-ChIP_MCF-7_Human1.92642924
24IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.91297224
25PCGF2_27294783_Chip-Seq_ESCs_Mouse1.86270365
26BP1_19119308_ChIP-ChIP_Hs578T_Human1.84620842
27HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.84424446
28HOXB4_20404135_ChIP-ChIP_EML_Mouse1.81273943
29IGF1R_20145208_ChIP-Seq_DFB_Human1.78694763
30TAF15_26573619_Chip-Seq_HEK293_Human1.76708309
31DCP1A_22483619_ChIP-Seq_HELA_Human1.72287681
32POU3F2_20337985_ChIP-ChIP_501MEL_Human1.71731824
33EWS_26573619_Chip-Seq_HEK293_Human1.68377972
34IRF8_21731497_ChIP-ChIP_J774_Mouse1.61295484
35E2F4_17652178_ChIP-ChIP_JURKAT_Human1.57534666
36MYC_18940864_ChIP-ChIP_HL60_Human1.56878721
37CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.52116092
38FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.48370434
39FUS_26573619_Chip-Seq_HEK293_Human1.45034892
40AR_20517297_ChIP-Seq_VCAP_Human1.42443313
41MYC_18555785_ChIP-Seq_MESCs_Mouse1.42339732
42PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.41896271
43ZFP57_27257070_Chip-Seq_ESCs_Mouse1.38269702
44HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.33773073
45TP53_22573176_ChIP-Seq_HFKS_Human1.32794513
46IRF8_22096565_ChIP-ChIP_GC-B_Human1.32077432
47PCGF2_27294783_Chip-Seq_NPCs_Mouse1.31942518
48CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.29239876
49FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.28758144
50ELK1_22589737_ChIP-Seq_MCF10A_Human1.28457949
51NANOG_19829295_ChIP-Seq_ESCs_Human1.27941649
52SOX2_19829295_ChIP-Seq_ESCs_Human1.27941649
53P300_19829295_ChIP-Seq_ESCs_Human1.26500634
54E2F1_18555785_ChIP-Seq_MESCs_Mouse1.25909451
55IRF1_19129219_ChIP-ChIP_H3396_Human1.25148210
56GATA3_26560356_Chip-Seq_TH2_Human1.23886322
57FOXA1_25329375_ChIP-Seq_VCAP_Human1.22952584
58FOXA1_27270436_Chip-Seq_PROSTATE_Human1.22952584
59FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.21523164
60EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.20953952
61MYC_18358816_ChIP-ChIP_MESCs_Mouse1.19712486
62GABP_19822575_ChIP-Seq_HepG2_Human1.16871495
63ER_23166858_ChIP-Seq_MCF-7_Human1.16757218
64GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.13778709
65CTBP1_25329375_ChIP-Seq_LNCAP_Human1.11088260
66FOXA1_21572438_ChIP-Seq_LNCaP_Human1.09601525
67EGR1_23403033_ChIP-Seq_LIVER_Mouse1.09207029
68NFE2_27457419_Chip-Seq_LIVER_Mouse1.07224917
69POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.06803627
70GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.06096309
71CBP_20019798_ChIP-Seq_JUKART_Human1.06062418
72IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.06062418
73HTT_18923047_ChIP-ChIP_STHdh_Human1.05936903
74MYC_19030024_ChIP-ChIP_MESCs_Mouse1.03852381
75EZH2_27294783_Chip-Seq_NPCs_Mouse1.03399747
76TTF2_22483619_ChIP-Seq_HELA_Human1.01771371
77MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.00041225
78SUZ12_27294783_Chip-Seq_NPCs_Mouse0.99265772
79TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.98658922
80CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.97064372
81CIITA_25753668_ChIP-Seq_RAJI_Human0.96713415
82NOTCH1_21737748_ChIP-Seq_TLL_Human0.96671073
83YY1_21170310_ChIP-Seq_MESCs_Mouse0.95685603
84FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.94784738
85EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.94354251
86IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.94327202
87FOXH1_21741376_ChIP-Seq_EPCs_Human0.94093953
88TAF2_19829295_ChIP-Seq_ESCs_Human0.93668461
89FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.92856960
90GATA3_26560356_Chip-Seq_TH1_Human0.92218054
91SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.92053570
92NCOR_22424771_ChIP-Seq_293T_Human0.91482565
93SALL4_22934838_ChIP-ChIP_CD34+_Human0.91106693
94PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.90485236
95AUTS2_25519132_ChIP-Seq_293T-REX_Human0.90451664
96CRX_20693478_ChIP-Seq_RETINA_Mouse0.89478811
97GATA3_21878914_ChIP-Seq_MCF-7_Human0.87284762
98ERG_20517297_ChIP-Seq_VCAP_Human0.86846195
99FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85958934
100CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.85786008

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002138_abnormal_hepatobiliary_system4.13112211
2MP0003011_delayed_dark_adaptation3.07887134
3MP0006072_abnormal_retinal_apoptosis2.80441371
4MP0001835_abnormal_antigen_presentation2.71338151
5MP0005075_abnormal_melanosome_morpholog2.65588726
6MP0005671_abnormal_response_to2.57584730
7MP0000372_irregular_coat_pigmentation2.53316338
8MP0003724_increased_susceptibility_to2.34785830
9MP0002148_abnormal_hypersensitivity_rea2.28111549
10MP0009785_altered_susceptibility_to2.27610994
11MP0008875_abnormal_xenobiotic_pharmacok2.27260058
12MP0005084_abnormal_gallbladder_morpholo2.25997720
13MP0003806_abnormal_nucleotide_metabolis2.21684435
14MP0002102_abnormal_ear_morphology1.99611412
15MP0003195_calcinosis1.97400008
16MP0003786_premature_aging1.90768484
17MP0006035_abnormal_mitochondrial_morpho1.88493589
18MP0005253_abnormal_eye_physiology1.85045596
19MP0008995_early_reproductive_senescence1.73666499
20MP0006036_abnormal_mitochondrial_physio1.66955284
21MP0005551_abnormal_eye_electrophysiolog1.62848968
22MP0008007_abnormal_cellular_replicative1.59839568
23MP0009764_decreased_sensitivity_to1.57164333
24MP0006082_CNS_inflammation1.47373197
25MP0003866_abnormal_defecation1.45778436
26MP0003880_abnormal_central_pattern1.45469587
27MP0004147_increased_porphyrin_level1.44507495
28MP0008877_abnormal_DNA_methylation1.43309265
29MP0005646_abnormal_pituitary_gland1.41983558
30MP0001800_abnormal_humoral_immune1.40886500
31MP0001968_abnormal_touch/_nociception1.39499496
32MP0008058_abnormal_DNA_repair1.36349499
33MP0005332_abnormal_amino_acid1.35560006
34MP0005645_abnormal_hypothalamus_physiol1.35157035
35MP0001905_abnormal_dopamine_level1.34859717
36MP0002277_abnormal_respiratory_mucosa1.32847717
37MP0004145_abnormal_muscle_electrophysio1.32505823
38MP0003186_abnormal_redox_activity1.30233262
39MP0005167_abnormal_blood-brain_barrier1.29820186
40MP0006276_abnormal_autonomic_nervous1.27330833
41MP0008872_abnormal_physiological_respon1.25195875
42MP0001873_stomach_inflammation1.24442822
43MP0002837_dystrophic_cardiac_calcinosis1.23175035
44MP0002254_reproductive_system_inflammat1.21955327
45MP0005000_abnormal_immune_tolerance1.20894169
46MP0004885_abnormal_endolymph1.18973828
47MP0002876_abnormal_thyroid_physiology1.12872636
48MP0003718_maternal_effect1.11476121
49MP0002452_abnormal_antigen_presenting1.10485226
50MP0005387_immune_system_phenotype1.09253984
51MP0001790_abnormal_immune_system1.09253984
52MP0002736_abnormal_nociception_after1.07889039
53MP0008775_abnormal_heart_ventricle1.05697440
54MP0002723_abnormal_immune_serum1.05351681
55MP0003172_abnormal_lysosome_physiology1.00810336
56MP0001485_abnormal_pinna_reflex0.98981644
57MP0003693_abnormal_embryo_hatching0.98696411
58MP0003137_abnormal_impulse_conducting0.98659370
59MP0000613_abnormal_salivary_gland0.97819123
60MP0001819_abnormal_immune_cell0.97689104
61MP0002733_abnormal_thermal_nociception0.96651968
62MP0003787_abnormal_imprinting0.94997850
63MP0001764_abnormal_homeostasis0.93714621
64MP0000685_abnormal_immune_system0.93187011
65MP0003567_abnormal_fetal_cardiomyocyte0.92989057
66MP0002420_abnormal_adaptive_immunity0.91579156
67MP0002234_abnormal_pharynx_morphology0.91532399
68MP0004215_abnormal_myocardial_fiber0.90943539
69MP0005389_reproductive_system_phenotype0.90485889
70MP0001970_abnormal_pain_threshold0.90400928
71MP0006292_abnormal_olfactory_placode0.89907940
72MP0001529_abnormal_vocalization0.89440713
73MP0001853_heart_inflammation0.89411906
74MP0000358_abnormal_cell_content/0.89195302
75MP0008961_abnormal_basal_metabolism0.89191189
76MP0005085_abnormal_gallbladder_physiolo0.89014652
77MP0010386_abnormal_urinary_bladder0.88675443
78MP0003878_abnormal_ear_physiology0.86533972
79MP0005377_hearing/vestibular/ear_phenot0.86533972
80MP0004957_abnormal_blastocyst_morpholog0.85993400
81MP0004084_abnormal_cardiac_muscle0.85027110
82MP0003252_abnormal_bile_duct0.84963638
83MP0008469_abnormal_protein_level0.84563066
84MP0005319_abnormal_enzyme/_coenzyme0.84317342
85MP0009333_abnormal_splenocyte_physiolog0.83584418
86MP0002638_abnormal_pupillary_reflex0.81961185
87MP0002751_abnormal_autonomic_nervous0.81878171
88MP0001845_abnormal_inflammatory_respons0.81557305
89MP0010155_abnormal_intestine_physiology0.80412282
90MP0008873_increased_physiological_sensi0.79842778
91MP0001501_abnormal_sleep_pattern0.79810113
92MP0001984_abnormal_olfaction0.79519065
93MP0002272_abnormal_nervous_system0.78298894
94MP0004142_abnormal_muscle_tone0.78223277
95MP0002090_abnormal_vision0.76634881
96MP0001919_abnormal_reproductive_system0.75382109
97MP0005410_abnormal_fertilization0.74477580
98MP0000647_abnormal_sebaceous_gland0.72760222
99MP0003436_decreased_susceptibility_to0.72541379
100MP0005365_abnormal_bile_salt0.70272012

Predicted human phenotypes

RankGene SetZ-score
13-Methylglutaconic aciduria (HP:0003535)4.37122172
2Abnormality of pyruvate family amino acid metabolism (HP:0010915)4.29979394
3Abnormality of alanine metabolism (HP:0010916)4.29979394
4Hyperalaninemia (HP:0003348)4.29979394
5Acute necrotizing encephalopathy (HP:0006965)4.21578061
6Acute encephalopathy (HP:0006846)3.93285801
7Mitochondrial inheritance (HP:0001427)3.83842249
8Increased CSF lactate (HP:0002490)3.83484370
9Hepatocellular necrosis (HP:0001404)3.74865175
10Abnormal mitochondria in muscle tissue (HP:0008316)3.68600882
11Abolished electroretinogram (ERG) (HP:0000550)3.62783876
12Abnormality of midbrain morphology (HP:0002418)3.56789357
13Molar tooth sign on MRI (HP:0002419)3.56789357
14Progressive macrocephaly (HP:0004481)3.52591546
15Hepatic necrosis (HP:0002605)3.47972809
16Decreased central vision (HP:0007663)3.25564190
17Decreased electroretinogram (ERG) amplitude (HP:0000654)3.24172629
18Type I transferrin isoform profile (HP:0003642)3.20821126
19Increased hepatocellular lipid droplets (HP:0006565)3.20426595
20Short tibia (HP:0005736)3.13266400
21Cerebral edema (HP:0002181)3.10894900
22Lipid accumulation in hepatocytes (HP:0006561)3.08775975
23Hypoproteinemia (HP:0003075)3.00751644
24Congenital stationary night blindness (HP:0007642)2.97429106
25Increased serum lactate (HP:0002151)2.90466703
26Aplasia/Hypoplasia of the tibia (HP:0005772)2.81686292
27Abnormality of the anterior horn cell (HP:0006802)2.80582103
28Degeneration of anterior horn cells (HP:0002398)2.80582103
29Hypothermia (HP:0002045)2.73619485
30Lactic acidosis (HP:0003128)2.72867947
31Decreased activity of mitochondrial respiratory chain (HP:0008972)2.69219847
32Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.69219847
33Abnormality of serum amino acid levels (HP:0003112)2.68868841
34Abnormal protein N-linked glycosylation (HP:0012347)2.67625559
35Abnormal protein glycosylation (HP:0012346)2.67625559
36Abnormal glycosylation (HP:0012345)2.67625559
37Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.67625559
38Nephronophthisis (HP:0000090)2.64388793
39Optic disc pallor (HP:0000543)2.61692149
40Absent rod-and cone-mediated responses on ERG (HP:0007688)2.55499241
41Aplastic anemia (HP:0001915)2.49317198
42Renal cortical cysts (HP:0000803)2.44919453
43Abnormality of aspartate family amino acid metabolism (HP:0010899)2.41045315
44Pancreatic cysts (HP:0001737)2.39281566
45Abnormality of the labia minora (HP:0012880)2.38663736
46Methylmalonic acidemia (HP:0002912)2.38354018
47Delayed CNS myelination (HP:0002188)2.37321763
48True hermaphroditism (HP:0010459)2.34898028
49Lethargy (HP:0001254)2.33873886
50Type 2 muscle fiber atrophy (HP:0003554)2.31959522
51Respiratory failure (HP:0002878)2.30514316
52Methylmalonic aciduria (HP:0012120)2.29827388
53Attenuation of retinal blood vessels (HP:0007843)2.29594342
54CNS demyelination (HP:0007305)2.25768033
55Retinal dysplasia (HP:0007973)2.24578565
56Stomach cancer (HP:0012126)2.23022673
57Abnormality of the prostate (HP:0008775)2.22762802
58Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.21760378
59Constricted visual fields (HP:0001133)2.17792807
60Generalized aminoaciduria (HP:0002909)2.17740693
61Medial flaring of the eyebrow (HP:0010747)2.16930953
62Leukodystrophy (HP:0002415)2.16201366
63IgG deficiency (HP:0004315)2.15250304
64Abnormal rod and cone electroretinograms (HP:0008323)2.12416863
65Pancreatic fibrosis (HP:0100732)2.12192925
66Increased intramyocellular lipid droplets (HP:0012240)2.10904896
67Hyperglycinuria (HP:0003108)2.10152232
68Facial diplegia (HP:0001349)2.09122920
69Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.08809202
70Exertional dyspnea (HP:0002875)2.07821717
71Abnormality of the renal medulla (HP:0100957)2.03961509
72Severe combined immunodeficiency (HP:0004430)2.03515926
73Abnormal albumin level (HP:0012116)1.98755388
74Hypoalbuminemia (HP:0003073)1.98755388
75Panhypogammaglobulinemia (HP:0003139)1.98565508
76Microvesicular hepatic steatosis (HP:0001414)1.96637737
77Renal Fanconi syndrome (HP:0001994)1.94017308
78Tongue fasciculations (HP:0001308)1.93338133
79Cerebral hypomyelination (HP:0006808)1.90787995
80Exercise intolerance (HP:0003546)1.89325599
81Abnormality of dicarboxylic acid metabolism (HP:0010995)1.87873761
82Dicarboxylic aciduria (HP:0003215)1.87873761
83Cerebral palsy (HP:0100021)1.86684766
84Congenital, generalized hypertrichosis (HP:0004540)1.85395721
85Abnormality of the renal cortex (HP:0011035)1.83229529
86Testicular atrophy (HP:0000029)1.83158350
87Abnormality of glycine metabolism (HP:0010895)1.80264006
88Abnormality of serine family amino acid metabolism (HP:0010894)1.80264006
89Dyschromatopsia (HP:0007641)1.78512010
90Type II lissencephaly (HP:0007260)1.76300053
91Aplasia/hypoplasia of the uterus (HP:0008684)1.76146805
92Emotional lability (HP:0000712)1.76010364
93Autoamputation (HP:0001218)1.74937126
94Muscle fiber atrophy (HP:0100295)1.74655648
95Increased muscle lipid content (HP:0009058)1.72982456
96Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.72606132
97Increased corneal curvature (HP:0100692)1.72267093
98Keratoconus (HP:0000563)1.72267093
99Cerebellar dysplasia (HP:0007033)1.71950264
100Atrophy/Degeneration involving motor neurons (HP:0007373)1.70516290

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BMPR1B4.00316296
2TIE13.55554887
3MAP4K23.08302200
4ZAK3.01030285
5TLK12.91263943
6MAP3K122.59392345
7TAOK32.55203230
8BUB12.47353077
9NUAK12.33999829
10CDK82.22322658
11BMPR22.12622645
12CDK192.08265962
13STK162.07818126
14MAPKAPK32.00688206
15VRK21.99056424
16GRK11.98639219
17VRK11.91433455
18BCKDK1.90105306
19ADRBK21.88263166
20DAPK11.68724998
21TRIM281.65873298
22EIF2AK31.58702409
23MST41.58557693
24FES1.58145484
25TGFBR11.55412276
26KIT1.50223155
27SRPK11.48457750
28CSNK1G31.45515647
29TXK1.33480454
30FLT31.32231045
31CSNK1G21.30426567
32TEC1.30220523
33PLK31.27981933
34TSSK61.27010717
35CSNK1A1L1.26003933
36PINK11.25933448
37CSNK1G11.20460753
38MYLK1.17809778
39INSRR1.16266817
40WNK31.15605899
41CSF1R1.13469943
42KDR1.05514868
43PBK1.01944465
44FRK1.01140944
45RPS6KA40.99720680
46OXSR10.96288630
47ERBB30.92280263
48PDK20.89485858
49DYRK20.88680072
50PLK20.88284874
51PHKG10.88230951
52PHKG20.88230951
53MKNK10.86460230
54RPS6KA50.84420383
55IKBKB0.75522285
56TRPM70.72685055
57EIF2AK20.70910789
58MATK0.70215724
59BCR0.67562629
60GRK50.67197448
61NEK10.65799103
62PRKCE0.63342215
63RIPK40.63155655
64ALK0.63019031
65PLK40.61612548
66ITK0.60673107
67MAPK130.57877255
68DAPK20.56824393
69CHUK0.56242713
70SYK0.53568835
71EIF2AK10.52978325
72DAPK30.50088143
73GRK60.49575182
74CSNK1A10.47645152
75PKN10.47406451
76MINK10.44416802
77IGF1R0.44120431
78PTK2B0.43544361
79LIMK10.42501906
80LCK0.41688038
81FER0.41149321
82LYN0.39725177
83SCYL20.39248162
84ILK0.39195921
85CAMK2D0.38489598
86CDC70.38235775
87CSNK2A10.38105973
88ADRBK10.36952522
89ATR0.36185156
90CDK90.35983429
91OBSCN0.33638260
92TAF10.33616869
93MKNK20.32351851
94MAP2K60.30564692
95PIK3CG0.29760486
96CAMK2A0.28233476
97BLK0.28225771
98AURKB0.28079811
99GRK70.27776407
100STK38L0.27120425

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.48660110
2Asthma_Homo sapiens_hsa053103.72706017
3Oxidative phosphorylation_Homo sapiens_hsa001903.24901986
4Allograft rejection_Homo sapiens_hsa053302.99428263
5Graft-versus-host disease_Homo sapiens_hsa053322.95925903
6Autoimmune thyroid disease_Homo sapiens_hsa053202.86694920
7Type I diabetes mellitus_Homo sapiens_hsa049402.85393318
8Protein export_Homo sapiens_hsa030602.66700880
9Parkinsons disease_Homo sapiens_hsa050122.60973558
10Intestinal immune network for IgA production_Homo sapiens_hsa046722.41125938
11RNA polymerase_Homo sapiens_hsa030202.19532970
12Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.93148951
13Rheumatoid arthritis_Homo sapiens_hsa053231.89178132
14Antigen processing and presentation_Homo sapiens_hsa046121.87751160
15One carbon pool by folate_Homo sapiens_hsa006701.83892755
16Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.60290855
17Alzheimers disease_Homo sapiens_hsa050101.54730094
18Propanoate metabolism_Homo sapiens_hsa006401.52153830
19Phototransduction_Homo sapiens_hsa047441.48399879
20Ribosome_Homo sapiens_hsa030101.47626687
21Huntingtons disease_Homo sapiens_hsa050161.43889827
22RNA degradation_Homo sapiens_hsa030181.42901897
23Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.41665555
24Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.34550262
25Mismatch repair_Homo sapiens_hsa034301.34509167
26Homologous recombination_Homo sapiens_hsa034401.33441293
27Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.29360517
28Caffeine metabolism_Homo sapiens_hsa002321.27108909
29Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.25393558
30Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.21355867
31Regulation of autophagy_Homo sapiens_hsa041401.19095095
32Primary immunodeficiency_Homo sapiens_hsa053401.17206686
33Peroxisome_Homo sapiens_hsa041461.16456934
34Viral myocarditis_Homo sapiens_hsa054161.13690327
35Purine metabolism_Homo sapiens_hsa002301.13629963
36Cardiac muscle contraction_Homo sapiens_hsa042601.12685158
37Pyrimidine metabolism_Homo sapiens_hsa002401.12593245
38Staphylococcus aureus infection_Homo sapiens_hsa051501.07236231
39Nitrogen metabolism_Homo sapiens_hsa009101.01968534
40Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.00127563
41Collecting duct acid secretion_Homo sapiens_hsa049660.98983146
42Spliceosome_Homo sapiens_hsa030400.98706309
43RNA transport_Homo sapiens_hsa030130.97406174
44Base excision repair_Homo sapiens_hsa034100.96314969
45Basal transcription factors_Homo sapiens_hsa030220.95890875
46Fatty acid elongation_Homo sapiens_hsa000620.94361421
47DNA replication_Homo sapiens_hsa030300.94058315
48Sulfur metabolism_Homo sapiens_hsa009200.92686055
49Linoleic acid metabolism_Homo sapiens_hsa005910.91125056
50Butanoate metabolism_Homo sapiens_hsa006500.87947228
51Tryptophan metabolism_Homo sapiens_hsa003800.86975347
52Chemical carcinogenesis_Homo sapiens_hsa052040.86761494
53Systemic lupus erythematosus_Homo sapiens_hsa053220.85464410
54Leishmaniasis_Homo sapiens_hsa051400.82054436
55Pentose and glucuronate interconversions_Homo sapiens_hsa000400.81419104
56Cysteine and methionine metabolism_Homo sapiens_hsa002700.80712885
57Selenocompound metabolism_Homo sapiens_hsa004500.77638982
58Hematopoietic cell lineage_Homo sapiens_hsa046400.77086114
59Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.76296431
60Nucleotide excision repair_Homo sapiens_hsa034200.75992175
61alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.75779980
62Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.73150052
63Arachidonic acid metabolism_Homo sapiens_hsa005900.71058733
64Maturity onset diabetes of the young_Homo sapiens_hsa049500.69390178
65Fanconi anemia pathway_Homo sapiens_hsa034600.68072392
66Glutathione metabolism_Homo sapiens_hsa004800.65894204
67Pyruvate metabolism_Homo sapiens_hsa006200.62042123
68Metabolic pathways_Homo sapiens_hsa011000.61380007
69Primary bile acid biosynthesis_Homo sapiens_hsa001200.60286568
70Non-homologous end-joining_Homo sapiens_hsa034500.60112516
71Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.59238054
72SNARE interactions in vesicular transport_Homo sapiens_hsa041300.55586474
73Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.54992353
74Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.53872910
75Retinol metabolism_Homo sapiens_hsa008300.53503505
76Epstein-Barr virus infection_Homo sapiens_hsa051690.53030514
77Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.52899600
78Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.52350366
79beta-Alanine metabolism_Homo sapiens_hsa004100.51768560
80Renin-angiotensin system_Homo sapiens_hsa046140.50300892
81Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.48855768
82Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.48536899
83Herpes simplex infection_Homo sapiens_hsa051680.46429791
84Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.46362691
85Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.42900663
86Ether lipid metabolism_Homo sapiens_hsa005650.38700481
87Carbon metabolism_Homo sapiens_hsa012000.38612327
88Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.37999054
89Drug metabolism - other enzymes_Homo sapiens_hsa009830.35924101
90Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.35821408
91Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.34685445
92Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.34516528
93Fat digestion and absorption_Homo sapiens_hsa049750.34325332
94Phagosome_Homo sapiens_hsa041450.32409332
95Olfactory transduction_Homo sapiens_hsa047400.32238572
96N-Glycan biosynthesis_Homo sapiens_hsa005100.32016498
97NOD-like receptor signaling pathway_Homo sapiens_hsa046210.30325293
98Glycosaminoglycan degradation_Homo sapiens_hsa005310.28170072
99Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.27826814
100Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.26648950

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