C9ORF3

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: This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of skeletal muscle contraction (GO:0014819)5.10092449
2actin-myosin filament sliding (GO:0033275)4.29545497
3muscle filament sliding (GO:0030049)4.29545497
4positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.21082708
5myofibril assembly (GO:0030239)4.09286031
6actin-mediated cell contraction (GO:0070252)4.05607505
7regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.88313652
8cardiac myofibril assembly (GO:0055003)3.76703975
9regulation of hippo signaling (GO:0035330)3.75050104
10regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.58990667
11regulation of relaxation of muscle (GO:1901077)3.57144161
12sarcomere organization (GO:0045214)3.44555414
13plasma membrane repair (GO:0001778)3.36792129
14negative regulation of protein localization to cell surface (GO:2000009)3.35029778
15regulation of sarcomere organization (GO:0060297)3.33175773
16response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.31866352
17actomyosin structure organization (GO:0031032)3.08783141
18drug catabolic process (GO:0042737)3.03222315
19exogenous drug catabolic process (GO:0042738)3.00457310
20regulation of cell communication by electrical coupling (GO:0010649)2.97856690
21regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.91102337
22myotube cell development (GO:0014904)2.90279821
23cardiac muscle cell development (GO:0055013)2.87478556
24sarcoplasmic reticulum calcium ion transport (GO:0070296)2.87035224
25actin filament-based movement (GO:0030048)2.85949865
26positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.84618969
27regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.82347475
28cellular ketone body metabolic process (GO:0046950)2.82161548
29response to inactivity (GO:0014854)2.80776426
30macroautophagy (GO:0016236)2.80427485
31myoblast fusion (GO:0007520)2.78808810
32negative regulation of cytosolic calcium ion concentration (GO:0051481)2.78164661
33skeletal muscle adaptation (GO:0043501)2.74964478
34regulation of secondary heart field cardioblast proliferation (GO:0003266)2.74223914
35regulation of cardioblast proliferation (GO:0003264)2.74223914
36regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.74078300
37epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.70344679
38fibroblast migration (GO:0010761)2.68129588
39pericardium development (GO:0060039)2.67145700
40muscle contraction (GO:0006936)2.67130265
41smooth muscle tissue development (GO:0048745)2.65131588
42tryptophan catabolic process (GO:0006569)2.64149507
43indole-containing compound catabolic process (GO:0042436)2.64149507
44indolalkylamine catabolic process (GO:0046218)2.64149507
45cardiac cell development (GO:0055006)2.63411315
46interkinetic nuclear migration (GO:0022027)2.63195654
47response to muscle activity (GO:0014850)2.60840662
48regulation of striated muscle contraction (GO:0006942)2.60643624
49striated muscle contraction (GO:0006941)2.59904194
50positive regulation of sodium ion transmembrane transport (GO:1902307)2.59716787
51skeletal muscle contraction (GO:0003009)2.59130381
52fatty acid transmembrane transport (GO:1902001)2.57081838
53motile cilium assembly (GO:0044458)2.56729127
54arginine catabolic process (GO:0006527)2.55759102
55striated muscle atrophy (GO:0014891)2.54578247
56skeletal muscle tissue development (GO:0007519)2.53477616
57muscle fiber development (GO:0048747)2.51628047
58muscle system process (GO:0003012)2.50126873
59ketone body metabolic process (GO:1902224)2.45717993
60skeletal muscle fiber development (GO:0048741)2.45443865
61regulation of the force of heart contraction (GO:0002026)2.42795665
62detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.41542291
63establishment of protein localization to Golgi (GO:0072600)2.39553816
64kynurenine metabolic process (GO:0070189)2.38199461
65regulation of hexokinase activity (GO:1903299)2.37970141
66regulation of glucokinase activity (GO:0033131)2.37970141
67syncytium formation (GO:0006949)2.37581124
68cardiac muscle hypertrophy (GO:0003300)2.37270399
69striated muscle cell development (GO:0055002)2.35801833
70behavioral response to nicotine (GO:0035095)2.35178429
71smooth muscle contraction (GO:0006939)2.34537277
72glomerular basement membrane development (GO:0032836)2.34462588
73indolalkylamine metabolic process (GO:0006586)2.32410643
74cilium or flagellum-dependent cell motility (GO:0001539)2.31856519
75positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.31018453
76muscle structure development (GO:0061061)2.30662474
77positive regulation of cation channel activity (GO:2001259)2.30388053
78striated muscle hypertrophy (GO:0014897)2.29389791
79nucleus localization (GO:0051647)2.28505749
80positive regulation of fatty acid oxidation (GO:0046321)2.28407935
81muscle tissue development (GO:0060537)2.27244444
82relaxation of cardiac muscle (GO:0055119)2.27042947
83regulation of actin filament-based movement (GO:1903115)2.27015706
84regulation of integrin-mediated signaling pathway (GO:2001044)2.26915330
85muscle organ development (GO:0007517)2.26727322
86striated muscle tissue development (GO:0014706)2.26130914
87striated muscle adaptation (GO:0014888)2.21861649
88oxidative demethylation (GO:0070989)2.21281626
89relaxation of muscle (GO:0090075)2.20914799
90negative regulation of complement activation (GO:0045916)2.20534815
91regulation of cardiac muscle contraction (GO:0055117)2.20128102
92positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.19581091
93syncytium formation by plasma membrane fusion (GO:0000768)2.19545548
94regulation of sodium ion transmembrane transport (GO:1902305)2.18821807
95tryptophan metabolic process (GO:0006568)2.18347096
96desmosome organization (GO:0002934)2.17640353
97calcium ion import (GO:0070509)2.16430072
98arginine metabolic process (GO:0006525)2.16009287
99muscle tissue morphogenesis (GO:0060415)2.15811552
100lymphangiogenesis (GO:0001946)2.15417883

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.58146571
2GBX2_23144817_ChIP-Seq_PC3_Human3.17759864
3EZH2_22144423_ChIP-Seq_EOC_Human2.48852428
4CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.48794680
5PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.46334878
6VDR_22108803_ChIP-Seq_LS180_Human2.44857177
7ZFP57_27257070_Chip-Seq_ESCs_Mouse2.19263113
8PIAS1_25552417_ChIP-Seq_VCAP_Human2.10635574
9* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.09808260
10RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.09427051
11ESR1_20079471_ChIP-ChIP_T-47D_Human2.04854187
12CDX2_19796622_ChIP-Seq_MESCs_Mouse2.04389521
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.02979361
14* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.97996667
15ZNF274_21170338_ChIP-Seq_K562_Hela1.96836483
16GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.93522818
17POU3F2_20337985_ChIP-ChIP_501MEL_Human1.89590563
18EP300_21415370_ChIP-Seq_HL-1_Mouse1.87123001
19* SMAD4_21799915_ChIP-Seq_A2780_Human1.87012474
20CJUN_26792858_Chip-Seq_BT549_Human1.85999599
21CTBP2_25329375_ChIP-Seq_LNCAP_Human1.81375416
22SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.75351442
23TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.72877941
24BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.71406236
25NR3C1_21868756_ChIP-Seq_MCF10A_Human1.70849533
26* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.69293219
27TP53_16413492_ChIP-PET_HCT116_Human1.66616856
28* STAT3_23295773_ChIP-Seq_U87_Human1.64256733
29* AHR_22903824_ChIP-Seq_MCF-7_Human1.61299657
30IGF1R_20145208_ChIP-Seq_DFB_Human1.59678421
31FLI1_27457419_Chip-Seq_LIVER_Mouse1.58080853
32ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.57795376
33P300_19829295_ChIP-Seq_ESCs_Human1.55811784
34ER_23166858_ChIP-Seq_MCF-7_Human1.54252842
35* ARNT_22903824_ChIP-Seq_MCF-7_Human1.52690894
36SMAD_19615063_ChIP-ChIP_OVARY_Human1.52670318
37* TCF4_23295773_ChIP-Seq_U87_Human1.48586571
38FUS_26573619_Chip-Seq_HEK293_Human1.47814679
39* BCAT_22108803_ChIP-Seq_LS180_Human1.45935442
40ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.45928624
41NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.45598741
42PCGF2_27294783_Chip-Seq_ESCs_Mouse1.42950986
43TAF15_26573619_Chip-Seq_HEK293_Human1.41599037
44SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41573761
45TP53_18474530_ChIP-ChIP_U2OS_Human1.40080004
46EGR1_23403033_ChIP-Seq_LIVER_Mouse1.39088316
47TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.38838481
48NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.37010523
49NRF2_20460467_ChIP-Seq_MEFs_Mouse1.37010523
50UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.36610078
51* AR_25329375_ChIP-Seq_VCAP_Human1.34350816
52SMAD3_21741376_ChIP-Seq_EPCs_Human1.33930432
53FOXM1_26456572_ChIP-Seq_MCF-7_Human1.33290749
54SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32914874
55CBP_20019798_ChIP-Seq_JUKART_Human1.32901167
56IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.32901167
57EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.32458987
58CTNNB1_20460455_ChIP-Seq_HCT116_Human1.32012412
59SUZ12_27294783_Chip-Seq_NPCs_Mouse1.30582373
60AR_21572438_ChIP-Seq_LNCaP_Human1.30159294
61OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29968462
62MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.29237139
63PCGF2_27294783_Chip-Seq_NPCs_Mouse1.25541321
64DROSHA_22980978_ChIP-Seq_HELA_Human1.25174276
65CTBP1_25329375_ChIP-Seq_LNCAP_Human1.24316691
66EZH2_27294783_Chip-Seq_NPCs_Mouse1.22072772
67ESR1_21235772_ChIP-Seq_MCF-7_Human1.21761367
68TRIM28_21343339_ChIP-Seq_HEK293_Human1.20534644
69TOP2B_26459242_ChIP-Seq_MCF-7_Human1.19413244
70CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.18869762
71SMAD4_21741376_ChIP-Seq_EPCs_Human1.18444334
72SMAD3_21741376_ChIP-Seq_HESCs_Human1.16970442
73BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.15073440
74* CDX2_22108803_ChIP-Seq_LS180_Human1.14025364
75* SOX2_21211035_ChIP-Seq_LN229_Gbm1.13032628
76NFE2_27457419_Chip-Seq_LIVER_Mouse1.12041380
77* TCF4_22108803_ChIP-Seq_LS180_Human1.11757366
78SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.09861334
79TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.09386600
80KLF5_20875108_ChIP-Seq_MESCs_Mouse1.08246432
81ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.07180786
82SMAD4_21741376_ChIP-Seq_HESCs_Human1.07090175
83BRD4_25478319_ChIP-Seq_HGPS_Human1.06967122
84EWS_26573619_Chip-Seq_HEK293_Human1.06836658
85NANOG_18555785_Chip-Seq_ESCs_Mouse1.06550749
86FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.06383328
87NR3C1_23031785_ChIP-Seq_PC12_Mouse1.04171349
88EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.04085340
89TP63_23658742_ChIP-Seq_EP156T_Human1.03380675
90SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.02372423
91TBL1_22424771_ChIP-Seq_293T_Human1.01906034
92* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.00668877
93CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.00534684
94RUNX2_22187159_ChIP-Seq_PCA_Human0.99992647
95P53_22387025_ChIP-Seq_ESCs_Mouse0.98816630
96EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.96653723
97CBX2_27304074_Chip-Seq_ESCs_Mouse0.96174463
98KDM2B_26808549_Chip-Seq_REH_Human0.95817678
99E2F1_18555785_Chip-Seq_ESCs_Mouse0.95704542
100NANOG_19829295_ChIP-Seq_ESCs_Human0.95699817

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue4.35369301
2MP0004145_abnormal_muscle_electrophysio3.92578986
3MP0003950_abnormal_plasma_membrane3.79986918
4MP0000749_muscle_degeneration3.41295879
5MP0004084_abnormal_cardiac_muscle3.24623868
6MP0004036_abnormal_muscle_relaxation3.14745482
7MP0000751_myopathy3.14353992
8MP0002837_dystrophic_cardiac_calcinosis2.51373073
9MP0009780_abnormal_chondrocyte_physiolo2.48120930
10MP0004215_abnormal_myocardial_fiber2.19437826
11MP0003045_fibrosis2.15487499
12MP0010386_abnormal_urinary_bladder2.11566769
13MP0005620_abnormal_muscle_contractility2.05674420
14MP0005503_abnormal_tendon_morphology2.02038378
15MP0002108_abnormal_muscle_morphology1.99269372
16MP0003195_calcinosis1.92607607
17MP0000013_abnormal_adipose_tissue1.89665878
18MP0010368_abnormal_lymphatic_system1.87047391
19MP0000569_abnormal_digit_pigmentation1.84799041
20MP0005275_abnormal_skin_tensile1.79045142
21MP0004043_abnormal_pH_regulation1.74720305
22MP0002106_abnormal_muscle_physiology1.70028908
23MP0008438_abnormal_cutaneous_collagen1.68718866
24MP0000383_abnormal_hair_follicle1.66508686
25MP0005369_muscle_phenotype1.65431606
26MP0004087_abnormal_muscle_fiber1.60847331
27MP0008775_abnormal_heart_ventricle1.60118089
28MP0002269_muscular_atrophy1.55161745
29MP0000759_abnormal_skeletal_muscle1.51338289
30MP0005330_cardiomyopathy1.49158070
31MP0002876_abnormal_thyroid_physiology1.48537669
32MP0002168_other_aberrant_phenotype1.46178615
33MP0000747_muscle_weakness1.43929678
34MP0004130_abnormal_muscle_cell1.43367002
35MP0004233_abnormal_muscle_weight1.42531692
36MP0000750_abnormal_muscle_regeneration1.41265348
37MP0002332_abnormal_exercise_endurance1.41077865
38MP0000427_abnormal_hair_cycle1.38202288
39MP0002972_abnormal_cardiac_muscle1.37881918
40MP0004272_abnormal_basement_membrane1.36296086
41MP0002127_abnormal_cardiovascular_syste1.30437713
42MP0005670_abnormal_white_adipose1.30248217
43MP0001661_extended_life_span1.23096042
44MP0000230_abnormal_systemic_arterial1.22642485
45MP0004484_altered_response_of1.22400278
46MP0003252_abnormal_bile_duct1.22397552
47MP0000733_abnormal_muscle_development1.21119892
48MP0006138_congestive_heart_failure1.15375843
49MP0002234_abnormal_pharynx_morphology1.13981524
50MP0004085_abnormal_heartbeat1.13547853
51MP0001501_abnormal_sleep_pattern1.10457722
52MP0010678_abnormal_skin_adnexa1.08331942
53MP0000538_abnormal_urinary_bladder1.06797684
54MP0001958_emphysema1.04771770
55MP0008872_abnormal_physiological_respon1.03976790
56MP0005551_abnormal_eye_electrophysiolog1.01844477
57MP0003137_abnormal_impulse_conducting1.00524654
58MP0008875_abnormal_xenobiotic_pharmacok0.99835403
59MP0001299_abnormal_eye_distance/0.97352944
60MP0005085_abnormal_gallbladder_physiolo0.97170390
61MP0005167_abnormal_blood-brain_barrier0.97028969
62MP0001756_abnormal_urination0.93592328
63MP0009250_abnormal_appendicular_skeleto0.92843847
64MP0001879_abnormal_lymphatic_vessel0.92524860
65MP0002160_abnormal_reproductive_system0.89655300
66MP0003879_abnormal_hair_cell0.88413238
67MP0005332_abnormal_amino_acid0.86556244
68MP0005266_abnormal_metabolism0.84919602
69MP0002638_abnormal_pupillary_reflex0.82912976
70MP0005083_abnormal_biliary_tract0.82421011
71MP0005395_other_phenotype0.81164891
72MP0003937_abnormal_limbs/digits/tail_de0.80546029
73MP0001664_abnormal_digestion0.78988281
74MP0005595_abnormal_vascular_smooth0.78453999
75MP0010030_abnormal_orbit_morphology0.77781813
76MP0005645_abnormal_hypothalamus_physiol0.75921198
77MP0001984_abnormal_olfaction0.75264418
78MP0005187_abnormal_penis_morphology0.75032065
79MP0005646_abnormal_pituitary_gland0.74177823
80MP0009384_cardiac_valve_regurgitation0.73557845
81MP0004134_abnormal_chest_morphology0.73023552
82MP0005385_cardiovascular_system_phenoty0.72752677
83MP0001544_abnormal_cardiovascular_syste0.72752677
84MP0000467_abnormal_esophagus_morphology0.72662479
85MP0009046_muscle_twitch0.72368547
86MP0000003_abnormal_adipose_tissue0.72018070
87MP0001485_abnormal_pinna_reflex0.72011421
88MP0006276_abnormal_autonomic_nervous0.71677407
89MP0005253_abnormal_eye_physiology0.71464313
90MP0002254_reproductive_system_inflammat0.69770875
91MP0005365_abnormal_bile_salt0.68928902
92MP0003279_aneurysm0.68875904
93MP0000762_abnormal_tongue_morphology0.68618682
94MP0003283_abnormal_digestive_organ0.67599962
95MP0002938_white_spotting0.67127013
96MP0001270_distended_abdomen0.66713531
97MP0003868_abnormal_feces_composition0.65296643
98MP0004270_analgesia0.65160317
99MP0002138_abnormal_hepatobiliary_system0.64837494
100MP0000767_abnormal_smooth_muscle0.62499600

Predicted human phenotypes

RankGene SetZ-score
1Nemaline bodies (HP:0003798)5.61971631
2Muscle fiber inclusion bodies (HP:0100299)5.52615364
3Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.44602674
4Type 1 muscle fiber predominance (HP:0003803)4.60959821
5Muscle hypertrophy of the lower extremities (HP:0008968)4.45157071
6Calf muscle hypertrophy (HP:0008981)4.28944358
7Abnormality of the calf musculature (HP:0001430)3.93653815
8Exercise-induced myalgia (HP:0003738)3.92802730
9Hyporeflexia of lower limbs (HP:0002600)3.48675312
10Aortic aneurysm (HP:0004942)3.41435752
11Exercise-induced muscle cramps (HP:0003710)3.18506350
12Bundle branch block (HP:0011710)3.05926325
13Popliteal pterygium (HP:0009756)2.87233127
14Abnormality of the renal cortex (HP:0011035)2.71598936
15Sudden death (HP:0001699)2.71021028
16Distal arthrogryposis (HP:0005684)2.66757707
17Fair hair (HP:0002286)2.66252706
18Round ear (HP:0100830)2.66073118
19Pancreatic cysts (HP:0001737)2.64794459
20Tubular atrophy (HP:0000092)2.64212814
21Hyperventilation (HP:0002883)2.56059296
22Aortic dissection (HP:0002647)2.52711641
23Neck muscle weakness (HP:0000467)2.52101731
24Fatigable weakness (HP:0003473)2.49478082
25Abnormality of the neuromuscular junction (HP:0003398)2.49478082
26Pancreatic fibrosis (HP:0100732)2.45531620
27EMG: myopathic abnormalities (HP:0003458)2.41540401
28Muscle fiber splitting (HP:0003555)2.41481801
29Hyperkalemia (HP:0002153)2.39871832
30Atrial fibrillation (HP:0005110)2.38615849
31Depressed nasal tip (HP:0000437)2.33507717
32Gowers sign (HP:0003391)2.29169311
33Myotonia (HP:0002486)2.25357497
34Lipoatrophy (HP:0100578)2.24847646
35Left ventricular hypertrophy (HP:0001712)2.24236007
36Abnormality of the ischium (HP:0003174)2.24024357
37Increased corneal curvature (HP:0100692)2.23778788
38Keratoconus (HP:0000563)2.23778788
39Areflexia of lower limbs (HP:0002522)2.23603984
40Limited hip movement (HP:0008800)2.22711360
41Hip contracture (HP:0003273)2.21957142
42Gaze-evoked nystagmus (HP:0000640)2.21938647
43Hypoplastic ischia (HP:0003175)2.21647191
44Abnormality of the renal medulla (HP:0100957)2.20398387
45True hermaphroditism (HP:0010459)2.19137455
46Genetic anticipation (HP:0003743)2.16098766
47Nephronophthisis (HP:0000090)2.13259929
48Absent phalangeal crease (HP:0006109)2.11756196
49Asymmetric septal hypertrophy (HP:0001670)2.08505800
50Prolonged QT interval (HP:0001657)2.05560953
51Abnormality of midbrain morphology (HP:0002418)2.05449251
52Molar tooth sign on MRI (HP:0002419)2.05449251
53Myoglobinuria (HP:0002913)2.03054748
54Rimmed vacuoles (HP:0003805)2.02101014
55Muscular dystrophy (HP:0003560)2.02000215
56Cystic liver disease (HP:0006706)2.01604713
57Ulnar deviation of the wrist (HP:0003049)2.01483727
58Primary atrial arrhythmia (HP:0001692)2.00472792
59Large for gestational age (HP:0001520)1.99268162
60Cerebellar dysplasia (HP:0007033)1.98606203
61Abnormal finger flexion creases (HP:0006143)1.98558389
62Abnormality of the labia majora (HP:0012881)1.96176502
63Type II lissencephaly (HP:0007260)1.95269655
64Type 2 muscle fiber atrophy (HP:0003554)1.93808202
65Frequent falls (HP:0002359)1.92595497
66Ventricular tachycardia (HP:0004756)1.91891567
67Hypoplastic labia majora (HP:0000059)1.90781969
68Lip pit (HP:0100267)1.89665186
69Generalized hypopigmentation of hair (HP:0011358)1.89601980
70Supraventricular tachycardia (HP:0004755)1.85419449
71Syncope (HP:0001279)1.84156779
72Cardiovascular calcification (HP:0011915)1.83287135
73Abnormality of alanine metabolism (HP:0010916)1.82800470
74Hyperalaninemia (HP:0003348)1.82800470
75Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.82800470
76Chronic hepatic failure (HP:0100626)1.82196900
77Supraventricular arrhythmia (HP:0005115)1.80953935
78Malignant hyperthermia (HP:0002047)1.79020214
79Dilated cardiomyopathy (HP:0001644)1.78397006
80Congenital sensorineural hearing impairment (HP:0008527)1.78164241
81Abnormal drinking behavior (HP:0030082)1.78029011
82Polydipsia (HP:0001959)1.78029011
83Scapular winging (HP:0003691)1.76511044
84Renal cortical cysts (HP:0000803)1.76312035
85Distal lower limb muscle weakness (HP:0009053)1.75416443
86Infantile muscular hypotonia (HP:0008947)1.73809668
87Heart block (HP:0012722)1.73541185
88Attenuation of retinal blood vessels (HP:0007843)1.71319627
89Facial diplegia (HP:0001349)1.71264447
90Abnormal atrioventricular conduction (HP:0005150)1.71095312
91Aplasia of the musculature (HP:0100854)1.70647008
92Ventricular arrhythmia (HP:0004308)1.69396183
93Difficulty running (HP:0009046)1.67715860
94Proximal amyotrophy (HP:0007126)1.67283982
95Abnormality of proline metabolism (HP:0010907)1.66325544
96Hydroxyprolinuria (HP:0003080)1.66325544
97Abnormality of the renal collecting system (HP:0004742)1.65089999
98Vascular calcification (HP:0004934)1.64592162
99Congenital hepatic fibrosis (HP:0002612)1.64545720
100Fetal akinesia sequence (HP:0001989)1.63383836

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.33279086
2OBSCN4.58426721
3MUSK3.30910995
4MYLK3.05374003
5TTN2.80249539
6PHKG22.67927497
7PHKG12.67927497
8INSRR2.44277378
9PINK12.28442128
10ACVR1B2.27795314
11BMPR1B2.19436986
12MAPKAPK32.10243869
13PIK3CG2.05544928
14AKT31.99737091
15ZAK1.96226413
16TRPM71.94979405
17STK38L1.85322729
18DMPK1.81556541
19STK391.81002707
20WNK41.53480151
21ADRBK21.45933827
22LIMK11.45660709
23GRK11.42003046
24TLK11.39484588
25LATS11.37599410
26MAP3K71.36943694
27MST1R1.27290090
28STK241.23323874
29MET1.19642957
30MAP4K21.19246074
31PTK2B1.15557333
32PIK3CA1.14143239
33PDK21.13852696
34PAK31.00482358
35CCNB10.99982802
36ADRBK10.97996153
37PRKAA20.95942018
38FER0.95757887
39PRKCE0.92993318
40TGFBR10.83148140
41MELK0.82155585
42ROCK10.81847512
43NME10.81022094
44STK380.80474873
45NUAK10.79637684
46DAPK20.79589246
47STK30.78709557
48OXSR10.78337432
49PRKAA10.77568206
50MAPK130.76868104
51MAP2K10.74807275
52ILK0.71587982
53NLK0.71098375
54CAMK2D0.67924299
55CDK80.67481430
56WNK30.67203042
57PKN10.66435101
58PAK20.66051420
59CAMK2G0.65832469
60MAPKAPK50.61526124
61CAMK10.61515253
62MAPK120.61459053
63BRSK20.61316611
64EPHA20.61287083
65CAMK2A0.61117907
66PNCK0.60091315
67CAMK40.57770348
68NEK90.56645215
69SGK20.53438841
70PTK20.53164995
71PBK0.52972295
72MAPK110.52826500
73NTRK30.52643302
74MAPK70.52632664
75MAP3K40.52131314
76MAP3K20.51473045
77EPHA30.49400610
78LMTK20.49259064
79TIE10.48936752
80DDR20.48502314
81MAPK150.47048866
82PRKG10.45941962
83WNK10.45780696
84MAP2K60.43970633
85NEK10.43964680
86ERBB30.42629983
87PRKACA0.40811292
88CDC42BPA0.40178112
89CASK0.40044095
90CAMK2B0.39635036
91FGFR20.39573529
92MAP3K30.37956052
93CAMK1G0.34379764
94PRKD10.33995943
95PRKACB0.33229109
96PRKCG0.31079995
97MST40.31011935
98MTOR0.30131098
99PRKCA0.27878200
100MARK10.26087665

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.65258820
2Dilated cardiomyopathy_Homo sapiens_hsa054142.32024089
3Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.11597776
4Butanoate metabolism_Homo sapiens_hsa006502.09816218
5Primary bile acid biosynthesis_Homo sapiens_hsa001202.06708819
6Tryptophan metabolism_Homo sapiens_hsa003802.06648787
7Circadian rhythm_Homo sapiens_hsa047101.99665298
8Linoleic acid metabolism_Homo sapiens_hsa005911.95291058
9Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.91875453
10Vascular smooth muscle contraction_Homo sapiens_hsa042701.81979486
11Histidine metabolism_Homo sapiens_hsa003401.80780133
12Steroid hormone biosynthesis_Homo sapiens_hsa001401.79235378
13ABC transporters_Homo sapiens_hsa020101.79193300
14Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.73256467
15Nitrogen metabolism_Homo sapiens_hsa009101.72926000
16Arginine biosynthesis_Homo sapiens_hsa002201.65332167
17Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.64763347
18ECM-receptor interaction_Homo sapiens_hsa045121.64274513
19Chemical carcinogenesis_Homo sapiens_hsa052041.63421574
20beta-Alanine metabolism_Homo sapiens_hsa004101.57858805
21Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.50664470
22alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.50083585
23Maturity onset diabetes of the young_Homo sapiens_hsa049501.47339493
24Cardiac muscle contraction_Homo sapiens_hsa042601.43900428
25Retinol metabolism_Homo sapiens_hsa008301.43621733
26Propanoate metabolism_Homo sapiens_hsa006401.41334069
27Fatty acid degradation_Homo sapiens_hsa000711.36349602
28Calcium signaling pathway_Homo sapiens_hsa040201.35290056
29Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.33995826
30Arginine and proline metabolism_Homo sapiens_hsa003301.27130202
31Insulin secretion_Homo sapiens_hsa049111.23900749
32Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.22532580
33Lysine degradation_Homo sapiens_hsa003101.21968671
34Phototransduction_Homo sapiens_hsa047441.20270069
35Selenocompound metabolism_Homo sapiens_hsa004501.15517522
36Pancreatic secretion_Homo sapiens_hsa049721.15177404
37Ovarian steroidogenesis_Homo sapiens_hsa049131.15145022
38Salivary secretion_Homo sapiens_hsa049701.13882391
39Protein digestion and absorption_Homo sapiens_hsa049741.12758096
40Complement and coagulation cascades_Homo sapiens_hsa046101.12720175
41Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.10888124
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.09395808
43Arachidonic acid metabolism_Homo sapiens_hsa005901.06974600
44Pentose and glucuronate interconversions_Homo sapiens_hsa000401.06402780
45Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.05318775
46Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.03070226
47Renin secretion_Homo sapiens_hsa049241.01364996
48Caffeine metabolism_Homo sapiens_hsa002321.01217844
49Circadian entrainment_Homo sapiens_hsa047131.00773437
50Glucagon signaling pathway_Homo sapiens_hsa049221.00690565
51Glycerolipid metabolism_Homo sapiens_hsa005610.96955498
52Oxytocin signaling pathway_Homo sapiens_hsa049210.95094169
53Focal adhesion_Homo sapiens_hsa045100.92577000
54Peroxisome_Homo sapiens_hsa041460.92155102
55Tight junction_Homo sapiens_hsa045300.92105766
56Bile secretion_Homo sapiens_hsa049760.91774621
57Sulfur metabolism_Homo sapiens_hsa009200.91621575
58Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.91353917
59Taste transduction_Homo sapiens_hsa047420.91030075
60Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.89201903
61Ether lipid metabolism_Homo sapiens_hsa005650.87144376
62TGF-beta signaling pathway_Homo sapiens_hsa043500.86068902
63Serotonergic synapse_Homo sapiens_hsa047260.80571246
64Gastric acid secretion_Homo sapiens_hsa049710.80079224
65Starch and sucrose metabolism_Homo sapiens_hsa005000.79787452
66Tyrosine metabolism_Homo sapiens_hsa003500.79514760
67Fat digestion and absorption_Homo sapiens_hsa049750.76995539
68Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.74809396
69Aldosterone synthesis and secretion_Homo sapiens_hsa049250.72336959
70Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.70927357
71Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.70865848
72Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.70556058
73Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.70377928
74Phenylalanine metabolism_Homo sapiens_hsa003600.68168520
75Olfactory transduction_Homo sapiens_hsa047400.64929083
76Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.62898588
77PPAR signaling pathway_Homo sapiens_hsa033200.61296583
78Vitamin B6 metabolism_Homo sapiens_hsa007500.59903455
79Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.59167832
80Insulin resistance_Homo sapiens_hsa049310.58963108
81Pyruvate metabolism_Homo sapiens_hsa006200.58672355
82Glutamatergic synapse_Homo sapiens_hsa047240.57982555
83Hippo signaling pathway_Homo sapiens_hsa043900.57289127
84GABAergic synapse_Homo sapiens_hsa047270.56692224
85Mineral absorption_Homo sapiens_hsa049780.54377667
86Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.54290815
87Morphine addiction_Homo sapiens_hsa050320.54236076
88Fatty acid biosynthesis_Homo sapiens_hsa000610.49897996
89Hedgehog signaling pathway_Homo sapiens_hsa043400.49639516
90Sulfur relay system_Homo sapiens_hsa041220.49617888
91Sphingolipid metabolism_Homo sapiens_hsa006000.45181595
92Metabolic pathways_Homo sapiens_hsa011000.44995759
93Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.44942232
94Fatty acid metabolism_Homo sapiens_hsa012120.44794712
95Systemic lupus erythematosus_Homo sapiens_hsa053220.44647699
96Dorso-ventral axis formation_Homo sapiens_hsa043200.44439245
97cAMP signaling pathway_Homo sapiens_hsa040240.44077387
98Nicotine addiction_Homo sapiens_hsa050330.40583810
99Regulation of autophagy_Homo sapiens_hsa041400.40175945
100Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.40075083

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