SAMD4A

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: Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1muscle filament sliding (GO:0030049)5.43274087
2actin-myosin filament sliding (GO:0033275)5.43274087
3sarcoplasmic reticulum calcium ion transport (GO:0070296)4.89045834
4actin-mediated cell contraction (GO:0070252)4.78152407
5sarcomere organization (GO:0045214)4.73856742
6positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.42453186
7myofibril assembly (GO:0030239)4.42326093
8cardiac myofibril assembly (GO:0055003)4.34218031
9regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.90983833
10actin filament-based movement (GO:0030048)3.79915071
11actomyosin structure organization (GO:0031032)3.72462252
12regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.69766579
13regulation of relaxation of muscle (GO:1901077)3.66517621
14regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.58858485
15regulation of the force of heart contraction (GO:0002026)3.56068564
16regulation of skeletal muscle contraction (GO:0014819)3.55665183
17cardiac muscle contraction (GO:0060048)3.54248734
18response to inactivity (GO:0014854)3.52115123
19striated muscle contraction (GO:0006941)3.51882603
20regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.47647437
21response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.47226766
22regulation of actin filament-based movement (GO:1903115)3.33822310
23skeletal muscle contraction (GO:0003009)3.29699121
24response to muscle activity (GO:0014850)3.23861272
25plasma membrane repair (GO:0001778)3.17539094
26regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.09351112
27negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.06191978
28cardiac muscle hypertrophy (GO:0003300)3.06068960
29muscle contraction (GO:0006936)2.99603159
30cell adhesion mediated by integrin (GO:0033627)2.98000211
31cardiac muscle cell development (GO:0055013)2.97469604
32regulation of cell communication by electrical coupling (GO:0010649)2.90783969
33cardiac cell development (GO:0055006)2.90152460
34striated muscle hypertrophy (GO:0014897)2.89446108
35skin morphogenesis (GO:0043589)2.83709664
36negative regulation of protein localization to cell surface (GO:2000009)2.82108249
37cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.79871223
38regulation of striated muscle contraction (GO:0006942)2.75338513
39macroautophagy (GO:0016236)2.74991035
40muscle system process (GO:0003012)2.74470027
41muscle tissue morphogenesis (GO:0060415)2.72217135
42positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.71180426
43cardiac muscle tissue morphogenesis (GO:0055008)2.69042310
44cell-substrate junction assembly (GO:0007044)2.66112649
45relaxation of cardiac muscle (GO:0055119)2.63024866
46cell-substrate adherens junction assembly (GO:0007045)2.60036476
47focal adhesion assembly (GO:0048041)2.60036476
48myoblast fusion (GO:0007520)2.58306843
49negative regulation of potassium ion transmembrane transport (GO:1901380)2.56892807
50collagen fibril organization (GO:0030199)2.56890914
51muscle hypertrophy (GO:0014896)2.56784898
52endocardial cushion development (GO:0003197)2.54502957
53retina vasculature morphogenesis in camera-type eye (GO:0061299)2.51191667
54cell communication by electrical coupling (GO:0010644)2.50223577
55adherens junction assembly (GO:0034333)2.49289400
56syncytium formation by plasma membrane fusion (GO:0000768)2.46322014
57regulation of p38MAPK cascade (GO:1900744)2.45028090
58endodermal cell differentiation (GO:0035987)2.43036340
59cell migration involved in heart development (GO:0060973)2.42787019
60muscle cell cellular homeostasis (GO:0046716)2.41927450
61positive regulation of p38MAPK cascade (GO:1900745)2.41398830
62cytoskeletal anchoring at plasma membrane (GO:0007016)2.41250584
63metanephric mesenchyme development (GO:0072075)2.40801326
64adult heart development (GO:0007512)2.38987613
65negative regulation of vascular permeability (GO:0043116)2.37324125
66regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.37022286
67relaxation of muscle (GO:0090075)2.36985463
68kidney mesenchyme development (GO:0072074)2.36474274
69regulation of muscle system process (GO:0090257)2.36437263
70epithelial cell-cell adhesion (GO:0090136)2.35613271
71lymphangiogenesis (GO:0001946)2.35539767
72regulation of membrane protein ectodomain proteolysis (GO:0051043)2.35469159
73extracellular matrix assembly (GO:0085029)2.34040492
74regulation of muscle contraction (GO:0006937)2.29695743
75insulin-like growth factor receptor signaling pathway (GO:0048009)2.29270869
76skeletal muscle fiber development (GO:0048741)2.28939590
77skeletal muscle tissue development (GO:0007519)2.28795451
78response to epinephrine (GO:0071871)2.28283056
79protein heterotrimerization (GO:0070208)2.26359569
80cellular response to epinephrine stimulus (GO:0071872)2.25911414
81positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.25832037
82ventricular cardiac muscle tissue morphogenesis (GO:0055010)2.25748824
83regulation of cardiac muscle contraction (GO:0055117)2.24416211
84venous blood vessel morphogenesis (GO:0048845)2.23040952
85regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.22337683
86regulation of cardiac muscle cell contraction (GO:0086004)2.22174574
87regulation of cardiac muscle hypertrophy (GO:0010611)2.21965935
88membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.21886189
89negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.21216532
90myotube cell development (GO:0014904)2.21079276
91regulation of cardioblast differentiation (GO:0051890)2.20518879
92glomerular basement membrane development (GO:0032836)2.19640167
93adhesion of symbiont to host cell (GO:0044650)2.18827036
94virion attachment to host cell (GO:0019062)2.18827036
95astrocyte differentiation (GO:0048708)2.18749801
96striated muscle adaptation (GO:0014888)2.18683807
97muscle organ development (GO:0007517)2.18562183
98skeletal muscle adaptation (GO:0043501)2.18401974
99muscle structure development (GO:0061061)2.18080810
100regulation of muscle hypertrophy (GO:0014743)2.16425088

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EP300_21415370_ChIP-Seq_HL-1_Mouse2.70212318
2TRIM28_21343339_ChIP-Seq_HEK293_Human2.62943118
3SMAD_19615063_ChIP-ChIP_OVARY_Human2.60785899
4CDX2_19796622_ChIP-Seq_MESCs_Mouse2.16146685
5ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.13532338
6ESR2_21235772_ChIP-Seq_MCF-7_Human2.06648600
7ZNF217_24962896_ChIP-Seq_MCF-7_Human1.99434493
8RARG_19884340_ChIP-ChIP_MEFs_Mouse1.97331041
9CJUN_26792858_Chip-Seq_BT549_Human1.89884218
10GBX2_23144817_ChIP-Seq_PC3_Human1.84347194
11TBX20_22080862_ChIP-Seq_HEART_Mouse1.73175146
12TBX20_22328084_ChIP-Seq_HEART_Mouse1.73175146
13GATA2_21666600_ChIP-Seq_HMVEC_Human1.66795349
14ESR1_20079471_ChIP-ChIP_T-47D_Human1.65025741
15TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.61860606
16PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.58591681
17TP53_16413492_ChIP-PET_HCT116_Human1.56056020
18NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.55364277
19AHR_22903824_ChIP-Seq_MCF-7_Human1.54327508
20NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.48913364
21RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.47965461
22EZH2_22144423_ChIP-Seq_EOC_Human1.47077747
23NRF2_20460467_ChIP-Seq_MEFs_Mouse1.47017684
24NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.47017684
25CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.46401429
26WT1_19549856_ChIP-ChIP_CCG9911_Human1.42819278
27NFIB_24661679_ChIP-Seq_LUNG_Mouse1.42278071
28EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.42121070
29CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.42088065
30SOX9_24532713_ChIP-Seq_HFSC_Mouse1.41770357
31TP53_18474530_ChIP-ChIP_U2OS_Human1.41668654
32CTNNB1_20460455_ChIP-Seq_HCT116_Human1.41131031
33ESR1_21235772_ChIP-Seq_MCF-7_Human1.41105069
34TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.40077420
35TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.39717364
36TP63_17297297_ChIP-ChIP_HaCaT_Human1.39110493
37BRD4_25478319_ChIP-Seq_HGPS_Human1.38653892
38SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.38580226
39RNF2_18974828_ChIP-Seq_MESCs_Mouse1.38140531
40EZH2_18974828_ChIP-Seq_MESCs_Mouse1.38140531
41SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.37389720
42PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.37222523
43SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.36896692
44RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.35139737
45MTF2_20144788_ChIP-Seq_MESCs_Mouse1.34393163
46PPAR_26484153_Chip-Seq_NCI-H1993_Human1.34389821
47SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.33005211
48ARNT_22903824_ChIP-Seq_MCF-7_Human1.32823358
49SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.31376651
50PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.29540937
51MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.22536577
52SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.20937319
53EED_16625203_ChIP-ChIP_MESCs_Mouse1.19877613
54CLOCK_20551151_ChIP-Seq_293T_Human1.17940578
55CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.17637874
56JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.17574052
57ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.17292884
58WT1_25993318_ChIP-Seq_PODOCYTE_Human1.16783743
59GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.16064361
60PIAS1_25552417_ChIP-Seq_VCAP_Human1.14840423
61AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.12620574
62* SMAD4_21799915_ChIP-Seq_A2780_Human1.12100155
63ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.10321051
64PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.10080380
65Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.09771697
66SMAD3_21741376_ChIP-Seq_HESCs_Human1.09248056
67BP1_19119308_ChIP-ChIP_Hs578T_Human1.09058959
68SALL4_18804426_ChIP-ChIP_XEN_Mouse1.07155446
69* FOXA2_19822575_ChIP-Seq_HepG2_Human1.06535920
70SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.06336576
71SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.06336576
72BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.05766253
73WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.05515854
74NR3C1_23031785_ChIP-Seq_PC12_Mouse1.04368979
75LXR_22158963_ChIP-Seq_LIVER_Mouse1.04042882
76TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.02569668
77TP53_23651856_ChIP-Seq_MEFs_Mouse0.99806526
78DROSHA_22980978_ChIP-Seq_HELA_Human0.99710371
79JARID2_20075857_ChIP-Seq_MESCs_Mouse0.99529473
80SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.98359974
81JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.97192129
82SMAD4_21741376_ChIP-Seq_HESCs_Human0.97017231
83HIF1A_21447827_ChIP-Seq_MCF-7_Human0.97016229
84RNF2_27304074_Chip-Seq_ESCs_Mouse0.96444419
85STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.95572705
86EZH2_27294783_Chip-Seq_ESCs_Mouse0.93804242
87TP63_23658742_ChIP-Seq_EP156T_Human0.93467122
88FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.93078322
89YAP1_20516196_ChIP-Seq_MESCs_Mouse0.89834562
90SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.89542660
91HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.89044117
92* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.89038117
93SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.87711668
94JARID2_20064375_ChIP-Seq_MESCs_Mouse0.87393478
95SOX2_21211035_ChIP-Seq_LN229_Gbm0.86579719
96ISL1_27105846_Chip-Seq_CPCs_Mouse0.86544458
97EZH2_27304074_Chip-Seq_ESCs_Mouse0.86132566
98* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.85462187
99FOXO3_23340844_ChIP-Seq_DLD1_Human0.85418057
100TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.84528376

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000751_myopathy4.45802041
2MP0008438_abnormal_cutaneous_collagen4.04027827
3MP0000749_muscle_degeneration3.56845623
4MP0003646_muscle_fatigue3.28187456
5MP0004084_abnormal_cardiac_muscle3.20397489
6MP0004036_abnormal_muscle_relaxation3.19023665
7MP0005257_abnormal_intraocular_pressure3.08461081
8MP0003950_abnormal_plasma_membrane2.94703343
9MP0004510_myositis2.87548465
10MP0004272_abnormal_basement_membrane2.63284146
11MP0004145_abnormal_muscle_electrophysio2.62916170
12MP0004087_abnormal_muscle_fiber2.41373201
13MP0002332_abnormal_exercise_endurance2.35346130
14MP0005275_abnormal_skin_tensile2.30002023
15MP0003705_abnormal_hypodermis_morpholog2.29022573
16MP0010368_abnormal_lymphatic_system2.28802954
17MP0005620_abnormal_muscle_contractility2.26528380
18MP0003279_aneurysm2.20496650
19MP0000747_muscle_weakness2.16670217
20MP0005503_abnormal_tendon_morphology2.16196141
21MP0001958_emphysema2.06922640
22MP0000759_abnormal_skeletal_muscle2.03603024
23MP0002106_abnormal_muscle_physiology2.03166199
24MP0005330_cardiomyopathy2.02266223
25MP0009780_abnormal_chondrocyte_physiolo1.99376713
26MP0002837_dystrophic_cardiac_calcinosis1.98621622
27MP0000013_abnormal_adipose_tissue1.97608289
28MP0004215_abnormal_myocardial_fiber1.97347695
29MP0002972_abnormal_cardiac_muscle1.96333202
30MP0000750_abnormal_muscle_regeneration1.89027844
31MP0000733_abnormal_muscle_development1.88990651
32MP0002269_muscular_atrophy1.87195394
33MP0005369_muscle_phenotype1.84828439
34MP0004233_abnormal_muscle_weight1.84766442
35MP0002108_abnormal_muscle_morphology1.83327916
36MP0004130_abnormal_muscle_cell1.75031120
37MP0003566_abnormal_cell_adhesion1.73107943
38MP0003091_abnormal_cell_migration1.71901182
39MP0006054_spinal_hemorrhage1.57617382
40MP0006138_congestive_heart_failure1.57171206
41MP0004484_altered_response_of1.56189824
42MP0005670_abnormal_white_adipose1.53611457
43MP0000767_abnormal_smooth_muscle1.47736110
44MP0005023_abnormal_wound_healing1.41882370
45MP0010630_abnormal_cardiac_muscle1.40136781
46MP0005451_abnormal_body_composition1.40026753
47MP0002877_abnormal_melanocyte_morpholog1.39680035
48MP0009384_cardiac_valve_regurgitation1.34481841
49MP0003941_abnormal_skin_development1.32802689
50MP0001299_abnormal_eye_distance/1.32320584
51MP0000003_abnormal_adipose_tissue1.28301123
52MP0008775_abnormal_heart_ventricle1.26232929
53MP0005595_abnormal_vascular_smooth1.25032996
54MP0002896_abnormal_bone_mineralization1.24534406
55MP0005623_abnormal_meninges_morphology1.19706089
56MP0003045_fibrosis1.19355717
57MP0002127_abnormal_cardiovascular_syste1.17143753
58MP0001542_abnormal_bone_strength1.15559183
59MP0005167_abnormal_blood-brain_barrier1.15300095
60MP0005385_cardiovascular_system_phenoty1.13815269
61MP0001544_abnormal_cardiovascular_syste1.13815269
62MP0005375_adipose_tissue_phenotype1.08294704
63MP0002295_abnormal_pulmonary_circulatio1.07954150
64MP0001879_abnormal_lymphatic_vessel1.07275440
65MP0003137_abnormal_impulse_conducting1.03398374
66MP0005165_increased_susceptibility_to1.01667677
67MP0004085_abnormal_heartbeat0.89473895
68MP0003879_abnormal_hair_cell0.88445330
69MP0005171_absent_coat_pigmentation0.87705894
70MP0001661_extended_life_span0.87513558
71MP0005666_abnormal_adipose_tissue0.83980425
72MP0002254_reproductive_system_inflammat0.83967317
73MP0002128_abnormal_blood_circulation0.82855526
74MP0005508_abnormal_skeleton_morphology0.79787539
75MP0004270_analgesia0.79777924
76MP0002971_abnormal_brown_adipose0.78147812
77MP0002168_other_aberrant_phenotype0.73750212
78MP0003828_pulmonary_edema0.73733985
79MP0005058_abnormal_lysosome_morphology0.70349590
80MP0000534_abnormal_ureter_morphology0.69829776
81MP0010352_gastrointestinal_tract_polyps0.68939933
82MP0009840_abnormal_foam_cell0.66851334
83MP0000762_abnormal_tongue_morphology0.66275241
84MP0000266_abnormal_heart_morphology0.63620760
85MP0005410_abnormal_fertilization0.63396217
86MP0005409_darkened_coat_color0.63361646
87MP0000343_altered_response_to0.62816434
88MP0005197_abnormal_uvea_morphology0.62609272
89MP0000428_abnormal_craniofacial_morphol0.59017489
90MP0001614_abnormal_blood_vessel0.58008387
91MP0005164_abnormal_response_to0.57858819
92MP0003300_gastrointestinal_ulcer0.57394007
93MP0003690_abnormal_glial_cell0.56873743
94MP0002998_abnormal_bone_remodeling0.56761811
95MP0002060_abnormal_skin_morphology0.56650746
96MP0003868_abnormal_feces_composition0.56153927
97MP0003329_amyloid_beta_deposits0.55925696
98MP0002638_abnormal_pupillary_reflex0.55250068
99MP0005266_abnormal_metabolism0.54951892
100MP0001348_abnormal_lacrimal_gland0.54047820

Predicted human phenotypes

RankGene SetZ-score
1Type 1 muscle fiber predominance (HP:0003803)6.24934016
2Muscle fiber inclusion bodies (HP:0100299)6.01862500
3Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)6.01421084
4Nemaline bodies (HP:0003798)5.92920440
5Hyporeflexia of lower limbs (HP:0002600)4.48179672
6Bundle branch block (HP:0011710)4.31546620
7Exercise-induced myalgia (HP:0003738)4.10992882
8Muscle fiber splitting (HP:0003555)4.01118854
9Asymmetric septal hypertrophy (HP:0001670)3.96198746
10Abnormality of the calf musculature (HP:0001430)3.95427144
11Protrusio acetabuli (HP:0003179)3.85269687
12Sudden death (HP:0001699)3.78351499
13Round ear (HP:0100830)3.77898742
14Increased connective tissue (HP:0009025)3.58346864
15Muscle hypertrophy of the lower extremities (HP:0008968)3.57981835
16Premature rupture of membranes (HP:0001788)3.51334746
17Calf muscle hypertrophy (HP:0008981)3.47102647
18Difficulty running (HP:0009046)3.44408663
19Distal lower limb muscle weakness (HP:0009053)3.41835325
20EMG: myopathic abnormalities (HP:0003458)3.36571268
21Distal arthrogryposis (HP:0005684)3.36117201
22Exercise-induced muscle cramps (HP:0003710)3.30580292
23Aortic aneurysm (HP:0004942)3.27871939
24Increased variability in muscle fiber diameter (HP:0003557)3.26742579
25Ventricular tachycardia (HP:0004756)3.25365281
26Ulnar deviation of the wrist (HP:0003049)3.20870134
27Abnormality of skeletal muscle fiber size (HP:0012084)3.20652993
28Spinal rigidity (HP:0003306)3.11217980
29Subaortic stenosis (HP:0001682)3.08153405
30Abnormality of the left ventricular outflow tract (HP:0011103)3.08153405
31Aortic dissection (HP:0002647)3.06701287
32Vascular tortuosity (HP:0004948)3.02827163
33Neck muscle weakness (HP:0000467)2.99519690
34Mildly elevated creatine phosphokinase (HP:0008180)2.91743268
35Lipoatrophy (HP:0100578)2.88358394
36Atrial fibrillation (HP:0005110)2.86018274
37Arterial tortuosity (HP:0005116)2.84833515
38Centrally nucleated skeletal muscle fibers (HP:0003687)2.73381730
39Abnormal atrioventricular conduction (HP:0005150)2.69646218
40Scapular winging (HP:0003691)2.62578627
41Heart block (HP:0012722)2.60286702
42Atrophic scars (HP:0001075)2.59470277
43Hip contracture (HP:0003273)2.57331637
44Primary atrial arrhythmia (HP:0001692)2.54566410
45Distal lower limb amyotrophy (HP:0008944)2.48569947
46Cerebral aneurysm (HP:0004944)2.41550598
47Limited hip movement (HP:0008800)2.41503307
48Supraventricular arrhythmia (HP:0005115)2.40624258
49Supraventricular tachycardia (HP:0004755)2.39954295
50Myopathic facies (HP:0002058)2.38816264
51Frequent falls (HP:0002359)2.37137871
52Dilated cardiomyopathy (HP:0001644)2.34402180
53Calcaneovalgus deformity (HP:0001848)2.30948488
54EMG: neuropathic changes (HP:0003445)2.29569543
55Slender build (HP:0001533)2.28153704
56Difficulty climbing stairs (HP:0003551)2.23733965
57Areflexia of lower limbs (HP:0002522)2.19279058
58Right ventricular cardiomyopathy (HP:0011663)2.18337858
59Neonatal short-limb short stature (HP:0008921)2.16632691
60Aneurysm (HP:0002617)2.13302497
61Soft skin (HP:0000977)2.11997485
62Muscular dystrophy (HP:0003560)2.11487167
63Deformed tarsal bones (HP:0008119)2.07725437
64Ventricular arrhythmia (HP:0004308)2.07674523
65Gowers sign (HP:0003391)2.05857697
66Myoglobinuria (HP:0002913)2.05847403
67Wormian bones (HP:0002645)2.04900612
68Lower limb amyotrophy (HP:0007210)2.03629667
69Syncope (HP:0001279)2.01829026
70Rimmed vacuoles (HP:0003805)2.00773123
71Rhabdomyolysis (HP:0003201)1.97092758
72Absent phalangeal crease (HP:0006109)1.96461835
73Overgrowth (HP:0001548)1.95765873
74Ankle contracture (HP:0006466)1.95341964
75Atrioventricular block (HP:0001678)1.94792608
76Abnormality of the ischium (HP:0003174)1.92831179
77Fragile skin (HP:0001030)1.91737235
78Myotonia (HP:0002486)1.91318563
79Achilles tendon contracture (HP:0001771)1.91284524
80Mitral valve prolapse (HP:0001634)1.88353078
81Shallow orbits (HP:0000586)1.88243801
82Spondylolisthesis (HP:0003302)1.86872888
83Bradycardia (HP:0001662)1.85653227
84Nuclear cataract (HP:0100018)1.85271788
85Malignant hyperthermia (HP:0002047)1.83695592
86Bladder diverticulum (HP:0000015)1.83517279
87Broad metatarsal (HP:0001783)1.82842055
88Hypoalphalipoproteinemia (HP:0003233)1.81865564
89Mitral stenosis (HP:0001718)1.80982263
90Bulbar palsy (HP:0001283)1.80678493
91Hypoplasia of the iris (HP:0007676)1.80516487
92Generalized muscle weakness (HP:0003324)1.78208924
93Follicular hyperkeratosis (HP:0007502)1.77777619
94Hypoplastic ischia (HP:0003175)1.76427757
95Abnormality of the foot musculature (HP:0001436)1.72844401
96Abnormality of the shoulder girdle musculature (HP:0001435)1.71673867
97Abnormality of the Achilles tendon (HP:0005109)1.71171370
98Foot dorsiflexor weakness (HP:0009027)1.70991564
99Cervical subluxation (HP:0003308)1.70987169
100Steppage gait (HP:0003376)1.69202273

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN5.31134993
2TTN4.75961306
3RIPK13.20544989
4MYLK3.13946033
5DDR22.73001987
6PHKG22.49126858
7PHKG12.49126858
8LATS22.20786427
9PDGFRA2.16994595
10DMPK2.03231917
11NEK92.01362773
12MOS1.86648297
13LATS11.83340790
14TRPM71.80413793
15TGFBR21.78718744
16PIK3CG1.60011023
17AKT31.55099796
18MARK11.50196983
19NTRK11.48155574
20GRK71.45916297
21PTK21.39846925
22PTK2B1.29251573
23MET1.25380258
24MAPKAPK31.21092441
25TRIB31.20843906
26LIMK11.15978092
27CDC42BPA1.15662662
28ICK1.15507151
29IRAK31.13677333
30PINK11.13453188
31ROCK11.11857875
32STK381.11545649
33PAK21.10620516
34PAK61.08970369
35MAP3K71.04512963
36TIE11.03251149
37STK38L1.01097485
38PKN21.00550757
39MAPK120.95404804
40PRKAA20.94270427
41CAMK2D0.93634739
42TESK10.91746088
43PDGFRB0.91189632
44EPHB20.90266872
45EPHB10.89708349
46MUSK0.86553112
47CAMK2G0.85929272
48MAPK70.84745062
49FER0.83826732
50FRK0.82078519
51MTOR0.80940236
52ROCK20.78976441
53EEF2K0.76738182
54PIK3CA0.76475942
55SGK30.76035776
56KSR20.75551246
57RPS6KA20.71768371
58WNK10.65657524
59EPHA30.65417007
60MAP3K30.65010866
61MAP2K10.64823679
62PRKD10.61031986
63SGK20.60672948
64PRKAA10.59450515
65CAMK2B0.59229173
66PAK30.59098111
67ABL20.58571466
68PKN10.58337660
69ERBB40.58144801
70MST1R0.57712922
71PDPK10.57447671
72HIPK20.57264765
73MAP3K130.56892588
74MAP2K30.56535879
75MAP3K60.54385787
76FGFR30.54133097
77MARK20.52966522
78CAMK2A0.50366807
79GSK3A0.48576253
80PRKD20.47321726
81TAOK20.46946945
82EPHA20.46394505
83JAK10.46285669
84STK30.45249134
85MAPK40.44065881
86FGFR40.42763411
87CAMK10.40615958
88PRKCE0.40277908
89MAPK100.39628694
90CDK120.39405239
91PRKG10.38726832
92KSR10.38195279
93STK240.37430991
94MAPK110.35341463
95SGK2230.33940752
96SGK4940.33940752
97RPS6KC10.33287258
98RPS6KL10.33287258
99NTRK30.31632612
100CAMK40.31073732

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.50696332
2Dilated cardiomyopathy_Homo sapiens_hsa054143.46804053
3Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.83471666
4ECM-receptor interaction_Homo sapiens_hsa045122.45462395
5Focal adhesion_Homo sapiens_hsa045102.12594392
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.86125989
7Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.61847298
8Amoebiasis_Homo sapiens_hsa051461.47286083
9Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.46173702
10Adherens junction_Homo sapiens_hsa045201.40589428
11AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.40424859
12cGMP-PKG signaling pathway_Homo sapiens_hsa040221.38709798
13Circadian rhythm_Homo sapiens_hsa047101.38068085
14Vascular smooth muscle contraction_Homo sapiens_hsa042701.28680637
15Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.26653356
16Insulin resistance_Homo sapiens_hsa049311.23858416
17Oxytocin signaling pathway_Homo sapiens_hsa049211.21675424
18Adipocytokine signaling pathway_Homo sapiens_hsa049201.21296461
19Proteoglycans in cancer_Homo sapiens_hsa052051.20624148
20Cardiac muscle contraction_Homo sapiens_hsa042601.20609554
21Insulin signaling pathway_Homo sapiens_hsa049101.19963308
22Calcium signaling pathway_Homo sapiens_hsa040201.17415826
23Glycosaminoglycan degradation_Homo sapiens_hsa005311.16792281
24Prion diseases_Homo sapiens_hsa050201.15675826
25Tight junction_Homo sapiens_hsa045301.14763410
26Renin secretion_Homo sapiens_hsa049241.13932741
27Protein digestion and absorption_Homo sapiens_hsa049741.10309317
28Dorso-ventral axis formation_Homo sapiens_hsa043201.10235355
29Other glycan degradation_Homo sapiens_hsa005111.09978487
30Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.06897615
31Complement and coagulation cascades_Homo sapiens_hsa046101.04997313
32Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.04349775
33Malaria_Homo sapiens_hsa051440.98052600
34Regulation of actin cytoskeleton_Homo sapiens_hsa048100.97137677
35Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.96280687
36PPAR signaling pathway_Homo sapiens_hsa033200.95830112
37Glucagon signaling pathway_Homo sapiens_hsa049220.91909816
38cAMP signaling pathway_Homo sapiens_hsa040240.89877400
39Thyroid hormone signaling pathway_Homo sapiens_hsa049190.87038441
40AMPK signaling pathway_Homo sapiens_hsa041520.86103388
41Bladder cancer_Homo sapiens_hsa052190.85699218
42Gastric acid secretion_Homo sapiens_hsa049710.85301741
43Insulin secretion_Homo sapiens_hsa049110.84391018
44GnRH signaling pathway_Homo sapiens_hsa049120.83171558
45TNF signaling pathway_Homo sapiens_hsa046680.77112002
46Small cell lung cancer_Homo sapiens_hsa052220.76312821
47Gap junction_Homo sapiens_hsa045400.76282041
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.75288361
49Aldosterone synthesis and secretion_Homo sapiens_hsa049250.75103612
50Type II diabetes mellitus_Homo sapiens_hsa049300.74174752
51Long-term potentiation_Homo sapiens_hsa047200.73510713
52PI3K-Akt signaling pathway_Homo sapiens_hsa041510.72545638
53Longevity regulating pathway - mammal_Homo sapiens_hsa042110.72493721
54Glioma_Homo sapiens_hsa052140.71087896
552-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.70795213
56Renal cell carcinoma_Homo sapiens_hsa052110.70626437
57mTOR signaling pathway_Homo sapiens_hsa041500.70557012
58Circadian entrainment_Homo sapiens_hsa047130.69465878
59Bile secretion_Homo sapiens_hsa049760.68981285
60Arginine and proline metabolism_Homo sapiens_hsa003300.68825559
61FoxO signaling pathway_Homo sapiens_hsa040680.67684656
62Hippo signaling pathway_Homo sapiens_hsa043900.67112343
63Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.66952882
64Estrogen signaling pathway_Homo sapiens_hsa049150.66785561
65TGF-beta signaling pathway_Homo sapiens_hsa043500.66565816
66Salivary secretion_Homo sapiens_hsa049700.66556365
67Prolactin signaling pathway_Homo sapiens_hsa049170.63741979
68MAPK signaling pathway_Homo sapiens_hsa040100.62796284
69VEGF signaling pathway_Homo sapiens_hsa043700.62642554
70Fatty acid biosynthesis_Homo sapiens_hsa000610.61809637
71Melanogenesis_Homo sapiens_hsa049160.61725104
72Pertussis_Homo sapiens_hsa051330.61265958
73Ovarian steroidogenesis_Homo sapiens_hsa049130.61241112
74Platelet activation_Homo sapiens_hsa046110.61117260
75Melanoma_Homo sapiens_hsa052180.60291412
76ABC transporters_Homo sapiens_hsa020100.59982505
77MicroRNAs in cancer_Homo sapiens_hsa052060.57235960
78Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.56689638
79Leukocyte transendothelial migration_Homo sapiens_hsa046700.55547346
80Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.54463289
81Axon guidance_Homo sapiens_hsa043600.54402652
82Endometrial cancer_Homo sapiens_hsa052130.53824182
83ErbB signaling pathway_Homo sapiens_hsa040120.52503878
84Neurotrophin signaling pathway_Homo sapiens_hsa047220.52403680
85Lysosome_Homo sapiens_hsa041420.51740761
86Rap1 signaling pathway_Homo sapiens_hsa040150.50763890
87Cholinergic synapse_Homo sapiens_hsa047250.50513318
88Arginine biosynthesis_Homo sapiens_hsa002200.50361242
89Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.49696632
90Thyroid hormone synthesis_Homo sapiens_hsa049180.48674165
91Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.46692802
92Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.45995219
93Central carbon metabolism in cancer_Homo sapiens_hsa052300.45370613
94Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.45221542
95Chronic myeloid leukemia_Homo sapiens_hsa052200.44608979
96Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.43975905
97Pathways in cancer_Homo sapiens_hsa052000.43668308
98Phenylalanine metabolism_Homo sapiens_hsa003600.43357951
99GABAergic synapse_Homo sapiens_hsa047270.42271498
100HIF-1 signaling pathway_Homo sapiens_hsa040660.42072226

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