APOL5

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 is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1muscle filament sliding (GO:0030049)7.89114481
2actin-myosin filament sliding (GO:0033275)7.89114481
3regulation of skeletal muscle contraction (GO:0014819)7.36823692
4skeletal muscle contraction (GO:0003009)7.08765158
5muscle cell fate commitment (GO:0042693)6.94883311
6actin-mediated cell contraction (GO:0070252)6.68011072
7sarcoplasmic reticulum calcium ion transport (GO:0070296)6.19394381
8skeletal muscle fiber development (GO:0048741)5.82046927
9negative regulation of smooth muscle cell differentiation (GO:0051151)5.44415228
10response to muscle activity (GO:0014850)5.38472796
11skeletal muscle adaptation (GO:0043501)5.23164311
12myotube cell development (GO:0014904)5.16034337
13skeletal muscle tissue regeneration (GO:0043403)5.06037006
14cell morphogenesis involved in neuron differentiation (GO:0048667)5.00965674
15skeletal muscle tissue development (GO:0007519)5.00382748
16muscle cell cellular homeostasis (GO:0046716)4.96944192
17actin filament-based movement (GO:0030048)4.88086685
18creatine metabolic process (GO:0006600)4.85434891
19striated muscle contraction (GO:0006941)4.82525237
20negative regulation of inclusion body assembly (GO:0090084)4.73786435
21outer ear morphogenesis (GO:0042473)4.52844940
22response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.48018585
23chemosensory behavior (GO:0007635)4.47381942
24otic vesicle formation (GO:0030916)4.40225032
25pseudouridine synthesis (GO:0001522)4.38515086
26plasma membrane repair (GO:0001778)4.37373528
27neuromuscular synaptic transmission (GO:0007274)4.25184915
28regulation of relaxation of muscle (GO:1901077)4.24815445
29muscle atrophy (GO:0014889)4.20282069
30sarcomere organization (GO:0045214)4.20030789
31response to inactivity (GO:0014854)4.15465515
32myofibril assembly (GO:0030239)4.10954138
33regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.10500956
34regulation of calcineurin-NFAT signaling cascade (GO:0070884)4.06542183
35striated muscle atrophy (GO:0014891)4.06104507
36positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.02605695
37muscle fiber development (GO:0048747)3.95056618
38regulation of mitotic spindle organization (GO:0060236)3.88822117
39muscle contraction (GO:0006936)3.86824115
40macroautophagy (GO:0016236)3.81775849
41negative regulation of mesenchymal cell apoptotic process (GO:2001054)3.71378357
42muscle organ development (GO:0007517)3.70714578
43positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.70129264
44muscle structure development (GO:0061061)3.67190829
45positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.61597245
46muscle system process (GO:0003012)3.57007601
47positive regulation of microtubule polymerization (GO:0031116)3.53097302
48striated muscle adaptation (GO:0014888)3.40938837
49muscle organ morphogenesis (GO:0048644)3.35800794
50striated muscle tissue development (GO:0014706)3.34395239
51membrane depolarization during action potential (GO:0086010)3.32023938
52oligosaccharide catabolic process (GO:0009313)3.30955613
53neuronal action potential propagation (GO:0019227)3.21783321
54striated muscle cell development (GO:0055002)3.15843257
55peristalsis (GO:0030432)3.14371244
56negative regulation of T cell receptor signaling pathway (GO:0050860)3.13775251
57cardiac muscle contraction (GO:0060048)3.12099238
58regulation of calcium ion transmembrane transporter activity (GO:1901019)3.10457957
59regulation of calcium ion transmembrane transport (GO:1903169)3.10457957
60synaptic transmission, cholinergic (GO:0007271)3.08215327
61muscle tissue morphogenesis (GO:0060415)3.07961946
62muscle tissue development (GO:0060537)3.06739858
63neuron fate determination (GO:0048664)3.06242006
64glucan biosynthetic process (GO:0009250)3.04888242
65glycogen biosynthetic process (GO:0005978)3.04888242
66negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)3.04614669
67cell aggregation (GO:0098743)3.02341998
68cartilage condensation (GO:0001502)3.02341998
69cardiac myofibril assembly (GO:0055003)2.99820660
70actomyosin structure organization (GO:0031032)2.99709709
71SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)2.98638405
72regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.98270301
73regulation of cell communication by electrical coupling (GO:0010649)2.95571452
74snRNA transcription (GO:0009301)2.93912185
75branching involved in prostate gland morphogenesis (GO:0060442)2.92402303
76postsynaptic membrane organization (GO:0001941)2.92110594
77negative regulation of protein localization to cell surface (GO:2000009)2.91792284
78neuronal action potential (GO:0019228)2.91384353
79cardiac muscle cell development (GO:0055013)2.82178688
80muscle adaptation (GO:0043500)2.80633440
81calcium ion import (GO:0070509)2.80360301
82cochlea morphogenesis (GO:0090103)2.78677759
83cell wall macromolecule catabolic process (GO:0016998)2.78155529
84regulation of mesenchymal cell apoptotic process (GO:2001053)2.77575931
85lateral sprouting from an epithelium (GO:0060601)2.77355097
86muscle cell development (GO:0055001)2.76997023
87positive regulation of cation channel activity (GO:2001259)2.76551749
88notochord development (GO:0030903)2.74119049
89response to activity (GO:0014823)2.73204437
90regulation of striated muscle contraction (GO:0006942)2.71688591
91myoblast fusion (GO:0007520)2.69802862
92regulation of actin filament-based movement (GO:1903115)2.69524943
93bundle of His cell to Purkinje myocyte communication (GO:0086069)2.69256128
94negative regulation of signal transduction by p53 class mediator (GO:1901797)2.68775688
95nephron tubule formation (GO:0072079)2.68579910
96regulation of spindle organization (GO:0090224)2.68503371
97glycogen catabolic process (GO:0005980)2.68148077
98myotube differentiation (GO:0014902)2.67887422
99negative regulation of cytosolic calcium ion concentration (GO:0051481)2.65249304
100regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.64380983

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.42159291
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.25881910
3IGF1R_20145208_ChIP-Seq_DFB_Human2.96118110
4AR_21572438_ChIP-Seq_LNCaP_Human2.95923765
5BP1_19119308_ChIP-ChIP_Hs578T_Human2.47231315
6ZNF274_21170338_ChIP-Seq_K562_Hela2.45811239
7FUS_26573619_Chip-Seq_HEK293_Human2.30073559
8RXR_22108803_ChIP-Seq_LS180_Human2.26580014
9CTBP2_25329375_ChIP-Seq_LNCAP_Human2.25185623
10ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.20969725
11EZH2_22144423_ChIP-Seq_EOC_Human2.15804301
12GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.08538952
13CDX2_19796622_ChIP-Seq_MESCs_Mouse2.07244858
14CBX2_27304074_Chip-Seq_ESCs_Mouse2.04776643
15CTBP1_25329375_ChIP-Seq_LNCAP_Human2.00743202
16GBX2_23144817_ChIP-Seq_PC3_Human1.97352856
17EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.91938600
18CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.88853901
19TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.86367980
20ZFP57_27257070_Chip-Seq_ESCs_Mouse1.70348779
21VDR_22108803_ChIP-Seq_LS180_Human1.68615370
22PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.64533405
23POU3F2_20337985_ChIP-ChIP_501MEL_Human1.56157379
24TAF15_26573619_Chip-Seq_HEK293_Human1.53270573
25KLF5_20875108_ChIP-Seq_MESCs_Mouse1.46190855
26JARID2_20075857_ChIP-Seq_MESCs_Mouse1.45745489
27CJUN_26792858_Chip-Seq_BT549_Human1.41787973
28SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41412867
29P300_19829295_ChIP-Seq_ESCs_Human1.40739774
30NR3C1_21868756_ChIP-Seq_MCF10A_Human1.40625526
31MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.39909694
32EZH2_27294783_Chip-Seq_ESCs_Mouse1.39286192
33RNF2_27304074_Chip-Seq_NSC_Mouse1.38818942
34PIAS1_25552417_ChIP-Seq_VCAP_Human1.35688854
35ER_23166858_ChIP-Seq_MCF-7_Human1.34174522
36PHF8_20622853_ChIP-Seq_HELA_Human1.34017554
37EWS_26573619_Chip-Seq_HEK293_Human1.32203494
38CRX_20693478_ChIP-Seq_RETINA_Mouse1.30059374
39BCAT_22108803_ChIP-Seq_LS180_Human1.28922761
40HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.28666295
41EZH2_27304074_Chip-Seq_ESCs_Mouse1.27394011
42TBL1_22424771_ChIP-Seq_293T_Human1.26842690
43BMI1_23680149_ChIP-Seq_NPCS_Mouse1.26270201
44ESR1_21235772_ChIP-Seq_MCF-7_Human1.24725974
45RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.24455892
46SUZ12_27294783_Chip-Seq_ESCs_Mouse1.24100485
47SOX2_19829295_ChIP-Seq_ESCs_Human1.23809028
48NANOG_19829295_ChIP-Seq_ESCs_Human1.23809028
49SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23534217
50EGR1_23403033_ChIP-Seq_LIVER_Mouse1.22992523
51SMAD4_21741376_ChIP-Seq_EPCs_Human1.21377501
52FLI1_21867929_ChIP-Seq_TH2_Mouse1.20685860
53CDX2_22108803_ChIP-Seq_LS180_Human1.19421908
54TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.18122930
55EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.18086307
56IRF1_19129219_ChIP-ChIP_H3396_Human1.17472170
57IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.17425395
58CBP_20019798_ChIP-Seq_JUKART_Human1.17425395
59AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.17365733
60CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.16995872
61CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.16494969
62SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.16462411
63NRF2_20460467_ChIP-Seq_MEFs_Mouse1.16391009
64NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.16391009
65GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.15944224
66SMAD3_21741376_ChIP-Seq_EPCs_Human1.15385026
67UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.13968751
68EZH2_27294783_Chip-Seq_NPCs_Mouse1.13062824
69AR_25329375_ChIP-Seq_VCAP_Human1.13057491
70VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.12975961
71GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.11479332
72JARID2_20064375_ChIP-Seq_MESCs_Mouse1.10962901
73* MYC_19829295_ChIP-Seq_ESCs_Human1.10741506
74GATA6_21074721_ChIP-Seq_CACO-2_Human1.10675152
75STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.10461534
76CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.10332805
77STAT3_23295773_ChIP-Seq_U87_Human1.09469583
78SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.09197918
79ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.08073457
80STAT6_21828071_ChIP-Seq_BEAS2B_Human1.07848955
81SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.07785757
82FOXM1_26456572_ChIP-Seq_MCF-7_Human1.07358696
83OCT4_21477851_ChIP-Seq_ESCs_Mouse1.06388167
84CTCF_27219007_Chip-Seq_Bcells_Human1.04316215
85TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.03814273
86CEBPB_22108803_ChIP-Seq_LS180_Human1.03785556
87SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.03263309
88TCF4_22108803_ChIP-Seq_LS180_Human1.03083923
89EP300_21415370_ChIP-Seq_HL-1_Mouse1.01988885
90CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.01901523
91ETV1_20927104_ChIP-Seq_GIST48_Human1.01524035
92REST_21632747_ChIP-Seq_MESCs_Mouse1.00861265
93MTF2_20144788_ChIP-Seq_MESCs_Mouse1.00388345
94NFYB_21822215_ChIP-Seq_K562_Human1.00085120
95PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.99944432
96MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.99485038
97CBP_21632823_ChIP-Seq_H3396_Human0.99343302
98ESR2_21235772_ChIP-Seq_MCF-7_Human0.99294415
99TOP2B_26459242_ChIP-Seq_MCF-7_Human0.98350645
100SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.98029801

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio6.03974100
2MP0000749_muscle_degeneration5.33656926
3MP0005451_abnormal_body_composition5.18258677
4MP0003646_muscle_fatigue4.68603830
5MP0000751_myopathy4.11277269
6MP0000750_abnormal_muscle_regeneration3.39834958
7MP0002106_abnormal_muscle_physiology3.33298748
8MP0000569_abnormal_digit_pigmentation3.12739945
9MP0004036_abnormal_muscle_relaxation2.93595586
10MP0005369_muscle_phenotype2.84925739
11MP0000759_abnormal_skeletal_muscle2.61007926
12MP0004087_abnormal_muscle_fiber2.60503161
13MP0002234_abnormal_pharynx_morphology2.59287181
14MP0002108_abnormal_muscle_morphology2.57881431
15MP0003950_abnormal_plasma_membrane2.54321824
16MP0000747_muscle_weakness2.51160315
17MP0002269_muscular_atrophy2.47777425
18MP0009780_abnormal_chondrocyte_physiolo2.33744378
19MP0005620_abnormal_muscle_contractility2.28934571
20MP0000733_abnormal_muscle_development2.15906208
21MP0000013_abnormal_adipose_tissue1.90097748
22MP0004270_analgesia1.80821011
23MP0002332_abnormal_exercise_endurance1.74319560
24MP0006072_abnormal_retinal_apoptosis1.66209699
25MP0004084_abnormal_cardiac_muscle1.59131279
26MP0005083_abnormal_biliary_tract1.55443276
27MP0002972_abnormal_cardiac_muscle1.54603866
28MP0005330_cardiomyopathy1.51742336
29MP0003045_fibrosis1.48294157
30MP0002282_abnormal_trachea_morphology1.45168170
31MP0006036_abnormal_mitochondrial_physio1.44593177
32MP0009384_cardiac_valve_regurgitation1.43079886
33MP0004215_abnormal_myocardial_fiber1.36262219
34MP0004130_abnormal_muscle_cell1.31943751
35MP0002971_abnormal_brown_adipose1.29545436
36MP0001485_abnormal_pinna_reflex1.28976216
37MP0004233_abnormal_muscle_weight1.26645715
38MP0003137_abnormal_impulse_conducting1.23104641
39MP0003191_abnormal_cellular_cholesterol1.21328204
40MP0002837_dystrophic_cardiac_calcinosis1.20851016
41MP0005253_abnormal_eye_physiology1.20123274
42MP0010030_abnormal_orbit_morphology1.16285272
43MP0004142_abnormal_muscle_tone1.09732109
44MP0009046_muscle_twitch1.09386936
45MP0000762_abnormal_tongue_morphology1.08201512
46MP0003959_abnormal_lean_body1.05624325
47MP0003567_abnormal_fetal_cardiomyocyte1.05486290
48MP0010630_abnormal_cardiac_muscle1.01309596
49MP0002638_abnormal_pupillary_reflex1.01272166
50MP0005360_urolithiasis1.01220867
51MP0001661_extended_life_span0.99286636
52MP0005174_abnormal_tail_pigmentation0.98904887
53MP0002138_abnormal_hepatobiliary_system0.96456070
54MP0005385_cardiovascular_system_phenoty0.94870001
55MP0001544_abnormal_cardiovascular_syste0.94870001
56MP0009250_abnormal_appendicular_skeleto0.94350361
57MP0004885_abnormal_endolymph0.90336505
58MP0003828_pulmonary_edema0.86494686
59MP0005423_abnormal_somatic_nervous0.86153829
60MP0000049_abnormal_middle_ear0.85355261
61MP0001299_abnormal_eye_distance/0.85156837
62MP0005551_abnormal_eye_electrophysiolog0.84586636
63MP0008775_abnormal_heart_ventricle0.84536160
64MP0003329_amyloid_beta_deposits0.82913366
65MP0006138_congestive_heart_failure0.81294978
66MP0001984_abnormal_olfaction0.79774489
67MP0001963_abnormal_hearing_physiology0.78412920
68MP0002932_abnormal_joint_morphology0.78292234
69MP0002127_abnormal_cardiovascular_syste0.78134298
70MP0005266_abnormal_metabolism0.77670116
71MP0008569_lethality_at_weaning0.72823870
72MP0005332_abnormal_amino_acid0.72265863
73MP0002067_abnormal_sensory_capabilities0.68811129
74MP0002822_catalepsy0.68532678
75MP0002114_abnormal_axial_skeleton0.68332589
76MP0004510_myositis0.68091111
77MP0002272_abnormal_nervous_system0.67401169
78MP0008875_abnormal_xenobiotic_pharmacok0.67056413
79MP0002249_abnormal_larynx_morphology0.65240666
80MP0003705_abnormal_hypodermis_morpholog0.64624184
81MP0000534_abnormal_ureter_morphology0.64235864
82MP0004484_altered_response_of0.61766903
83MP0001968_abnormal_touch/_nociception0.57982132
84MP0005670_abnormal_white_adipose0.57492145
85MP0010368_abnormal_lymphatic_system0.57412670
86MP0000955_abnormal_spinal_cord0.57212154
87MP0002229_neurodegeneration0.56283632
88MP0003879_abnormal_hair_cell0.55522017
89MP0005452_abnormal_adipose_tissue0.55114394
90MP0004742_abnormal_vestibular_system0.53597583
91MP0000372_irregular_coat_pigmentation0.53392433
92MP0004134_abnormal_chest_morphology0.52908669
93MP0001986_abnormal_taste_sensitivity0.52145005
94MP0000538_abnormal_urinary_bladder0.51595762
95MP0000026_abnormal_inner_ear0.50764799
96MP0000266_abnormal_heart_morphology0.49467122
97MP0002160_abnormal_reproductive_system0.49201737
98MP0002572_abnormal_emotion/affect_behav0.49167972
99MP0000003_abnormal_adipose_tissue0.48521603
100MP0002752_abnormal_somatic_nervous0.47130596

Predicted human phenotypes

RankGene SetZ-score
1Nemaline bodies (HP:0003798)8.19216432
2Muscle fiber inclusion bodies (HP:0100299)8.06814924
3Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)7.73953493
4Exercise-induced myalgia (HP:0003738)7.33513553
5Exercise-induced muscle cramps (HP:0003710)6.40144136
6Type 1 muscle fiber predominance (HP:0003803)5.59157540
7Muscle hypertrophy of the lower extremities (HP:0008968)5.23667604
8Distal arthrogryposis (HP:0005684)5.14500310
9Popliteal pterygium (HP:0009756)4.80770198
10Calf muscle hypertrophy (HP:0008981)4.32299063
11Ulnar deviation of the wrist (HP:0003049)4.32069591
12Myopathic facies (HP:0002058)4.10555872
13Type 2 muscle fiber atrophy (HP:0003554)4.08814436
14Round ear (HP:0100830)4.07352404
15Hyporeflexia of lower limbs (HP:0002600)4.04201267
16Malignant hyperthermia (HP:0002047)3.97360359
17Abnormality of the neuromuscular junction (HP:0003398)3.87331529
18Fatigable weakness (HP:0003473)3.87331529
19EMG: myopathic abnormalities (HP:0003458)3.83052857
20Absent phalangeal crease (HP:0006109)3.72747624
21Myoglobinuria (HP:0002913)3.55448776
22Fetal akinesia sequence (HP:0001989)3.54201224
23Muscle fiber atrophy (HP:0100295)3.54121639
24Muscle stiffness (HP:0003552)3.49779109
25Abnormality of placental membranes (HP:0011409)3.40334092
26Amniotic constriction ring (HP:0009775)3.40334092
27True hermaphroditism (HP:0010459)3.39532182
28Abnormality of midbrain morphology (HP:0002418)3.32418387
29Molar tooth sign on MRI (HP:0002419)3.32418387
30Abnormality of the calf musculature (HP:0001430)3.31551709
31Muscle fiber splitting (HP:0003555)3.25963111
32Weak cry (HP:0001612)3.21703088
33Thin ribs (HP:0000883)3.17141069
34Areflexia of lower limbs (HP:0002522)3.16654817
35Calcaneovalgus deformity (HP:0001848)3.12434052
36Rhabdomyolysis (HP:0003201)3.10973602
37Abnormal finger flexion creases (HP:0006143)3.06528940
38Gowers sign (HP:0003391)2.94807492
39Myotonia (HP:0002486)2.93543154
40Abnormality of skeletal muscle fiber size (HP:0012084)2.92228482
41Duplicated collecting system (HP:0000081)2.88982040
42Neck muscle weakness (HP:0000467)2.86112344
43Easy fatigability (HP:0003388)2.83089187
44Congenital stationary night blindness (HP:0007642)2.77569433
45Abnormality of the renal collecting system (HP:0004742)2.76725042
46Deformed tarsal bones (HP:0008119)2.75675466
47Aplasia of the musculature (HP:0100854)2.68092753
48Reticulocytopenia (HP:0001896)2.61857097
49Asymmetric septal hypertrophy (HP:0001670)2.60895994
50Abnormal biliary tract physiology (HP:0012439)2.59496579
51Bile duct proliferation (HP:0001408)2.59496579
52Increased variability in muscle fiber diameter (HP:0003557)2.54364936
53Abnormality of pyrimidine metabolism (HP:0004353)2.51627872
54Bifid tongue (HP:0010297)2.40880021
55Chromosomal breakage induced by crosslinking agents (HP:0003221)2.39718083
56Pancreatic fibrosis (HP:0100732)2.38656144
57Global brain atrophy (HP:0002283)2.33517032
58Vacuolated lymphocytes (HP:0001922)2.28441377
59Hypoplastic ischia (HP:0003175)2.27320756
60Hemiparesis (HP:0001269)2.25805862
61Pancreatic cysts (HP:0001737)2.25289389
62Abnormality of the left ventricular outflow tract (HP:0011103)2.14697072
63Subaortic stenosis (HP:0001682)2.14697072
64Bulbar palsy (HP:0001283)2.11784983
65Difficulty running (HP:0009046)2.10838630
66Generalized muscle weakness (HP:0003324)2.09727331
67Rimmed vacuoles (HP:0003805)2.09690500
68Abnormality of the ischium (HP:0003174)2.09623598
69Long clavicles (HP:0000890)2.09583215
70Febrile seizures (HP:0002373)2.07426861
71Sudden death (HP:0001699)2.04098914
72Abnormality of the calcaneus (HP:0008364)2.03765620
73Nonprogressive disorder (HP:0003680)2.02004650
74Impaired smooth pursuit (HP:0007772)2.00134466
75Chromsome breakage (HP:0040012)1.98503152
76Dilated cardiomyopathy (HP:0001644)1.96706416
77Distal lower limb muscle weakness (HP:0009053)1.96648796
78Bundle branch block (HP:0011710)1.95363558
79Nephronophthisis (HP:0000090)1.93593638
80Hypoplastic iliac wings (HP:0002866)1.93158878
81Abnormality of DNA repair (HP:0003254)1.90018154
82Mildly elevated creatine phosphokinase (HP:0008180)1.86403253
83Pterygium (HP:0001059)1.84917935
84Frequent falls (HP:0002359)1.82134986
85Epiphyseal dysplasia (HP:0002656)1.81042962
86Centrally nucleated skeletal muscle fibers (HP:0003687)1.76209797
87Infantile muscular hypotonia (HP:0008947)1.75550998
88Aplasia/Hypoplasia of the tongue (HP:0010295)1.74156720
89Abnormal pupillary function (HP:0007686)1.73588981
90Lipoatrophy (HP:0100578)1.73206284
91Respiratory insufficiency due to muscle weakness (HP:0002747)1.72844499
92Failure to thrive in infancy (HP:0001531)1.72325911
93EMG: neuropathic changes (HP:0003445)1.71648161
94Limb dystonia (HP:0002451)1.70889389
95Hip contracture (HP:0003273)1.70842627
96Cystic hygroma (HP:0000476)1.69962993
97Truncal obesity (HP:0001956)1.68562963
98Cystic liver disease (HP:0006706)1.67628631
99Aplasia/Hypoplasia of the spleen (HP:0010451)1.67342466
100Akinesia (HP:0002304)1.66476324

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN6.36249960
2MUSK5.41838346
3GRK14.70546617
4PHKG24.62716236
5PHKG14.62716236
6IRAK13.74899831
7ADRBK23.21929809
8TSSK62.90223991
9TTN2.53703401
10PIK3CG2.34257888
11FRK2.25175728
12MAP4K22.20146132
13DAPK21.93285633
14FGFR31.80679553
15WEE11.73990239
16MAPK121.69115859
17PRKD31.68401397
18MAPKAPK31.42158884
19LIMK11.40739397
20MAP2K31.36546842
21MAPKAPK51.35351359
22RPS6KB21.27054096
23MAPK151.23889090
24NTRK31.20475677
25PNCK1.20248396
26PTK2B1.15395807
27ERBB31.13940745
28TRPM71.09192516
29TIE11.05333116
30MAP3K21.01756699
31ADRBK11.00972597
32SCYL20.99910005
33CASK0.94935047
34DYRK1A0.93779842
35NME10.93043720
36MAP3K40.89904889
37NUAK10.85075133
38PINK10.82318092
39MAPK70.73948524
40AKT20.73874778
41MAPK130.73517676
42LATS20.73292735
43VRK20.69704542
44DDR20.67581606
45TBK10.64578294
46ROCK10.61119195
47EEF2K0.59106950
48DYRK30.58732161
49MAP3K10.56189753
50MARK10.55485196
51EIF2AK20.54004393
52PRKAA10.52421818
53FGFR20.50496308
54EIF2AK30.49344298
55VRK10.48923707
56MAP2K60.48613461
57PRKAA20.47489686
58PRKD20.47413570
59PRKG10.47296968
60MAP2K40.42670948
61PRKACB0.40400591
62STK390.39149849
63PRKACA0.38326807
64CAMK2A0.37851770
65MOS0.37388314
66CAMK2D0.37096501
67GRK50.36361293
68NEK20.35677780
69CDK30.33543828
70RPS6KB10.32357836
71TAOK10.30627900
72MAP2K10.30327123
73RAF10.29717193
74MELK0.28277114
75KSR20.27932598
76PRKCG0.27458669
77PRKACG0.25393299
78STK30.25276860
79BRSK20.25249404
80PRKCE0.24138708
81ROCK20.23967944
82OXSR10.21588209
83MAPK40.20686441
84SGK10.20142881
85MKNK20.19678164
86TAOK20.19676404
87CAMK2G0.19615212
88CAMK2B0.18341386
89CSNK1A10.17600644
90TESK20.16578287
91MAP3K70.16097842
92TNIK0.14492341
93RPS6KA30.14276126
94PRKD10.13133514
95INSRR0.13118764
96PLK30.12947279
97FGFR10.12699096
98INSR0.12007466
99CAMKK20.11592548
100CCNB10.11191655

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.65423151
2Dilated cardiomyopathy_Homo sapiens_hsa054143.30192874
3Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.98311667
4Cardiac muscle contraction_Homo sapiens_hsa042602.91670213
5Phototransduction_Homo sapiens_hsa047442.89171937
6Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.80061840
7Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.52126419
8Butanoate metabolism_Homo sapiens_hsa006502.28925012
9Nitrogen metabolism_Homo sapiens_hsa009102.08640655
10Tryptophan metabolism_Homo sapiens_hsa003801.92705277
11Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.85027691
12Fatty acid degradation_Homo sapiens_hsa000711.83792332
13Calcium signaling pathway_Homo sapiens_hsa040201.75987337
14Linoleic acid metabolism_Homo sapiens_hsa005911.75832006
15alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.65878629
16Propanoate metabolism_Homo sapiens_hsa006401.64767076
17Other glycan degradation_Homo sapiens_hsa005111.63688536
18Oxytocin signaling pathway_Homo sapiens_hsa049211.60122585
19Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.50541939
20Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.49263391
21Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.43523799
22Taste transduction_Homo sapiens_hsa047421.42641228
23Arginine and proline metabolism_Homo sapiens_hsa003301.35966917
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.35711032
25Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.34571275
26Olfactory transduction_Homo sapiens_hsa047401.32541269
27Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.32179266
28Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.30551301
29Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.27377316
30Glucagon signaling pathway_Homo sapiens_hsa049221.24750891
31Circadian entrainment_Homo sapiens_hsa047131.23143951
32Vascular smooth muscle contraction_Homo sapiens_hsa042701.21839157
33Histidine metabolism_Homo sapiens_hsa003401.21223679
34Ovarian steroidogenesis_Homo sapiens_hsa049131.18144073
35Starch and sucrose metabolism_Homo sapiens_hsa005001.16486455
36Ether lipid metabolism_Homo sapiens_hsa005651.13379549
37GABAergic synapse_Homo sapiens_hsa047271.07293623
38Pyruvate metabolism_Homo sapiens_hsa006201.04844570
39Steroid hormone biosynthesis_Homo sapiens_hsa001401.04563454
40Dorso-ventral axis formation_Homo sapiens_hsa043201.03963847
41Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.03810076
42Circadian rhythm_Homo sapiens_hsa047101.03596111
43Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.03164469
44Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.03034785
45Serotonergic synapse_Homo sapiens_hsa047260.99764588
46Chemical carcinogenesis_Homo sapiens_hsa052040.99724523
47Maturity onset diabetes of the young_Homo sapiens_hsa049500.97740857
48Tight junction_Homo sapiens_hsa045300.97411877
49Glutamatergic synapse_Homo sapiens_hsa047240.92863542
50Fatty acid metabolism_Homo sapiens_hsa012120.91923605
51Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.91913045
52Bile secretion_Homo sapiens_hsa049760.91454023
53beta-Alanine metabolism_Homo sapiens_hsa004100.90368958
54Insulin signaling pathway_Homo sapiens_hsa049100.87100428
55Vitamin B6 metabolism_Homo sapiens_hsa007500.86023991
56Fructose and mannose metabolism_Homo sapiens_hsa000510.85295450
57Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.85255881
58RNA degradation_Homo sapiens_hsa030180.84645862
59GnRH signaling pathway_Homo sapiens_hsa049120.77834014
60Pentose phosphate pathway_Homo sapiens_hsa000300.77250608
61Alzheimers disease_Homo sapiens_hsa050100.76804916
62Retinol metabolism_Homo sapiens_hsa008300.74707154
63Arginine biosynthesis_Homo sapiens_hsa002200.70169951
64Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.69651988
65Morphine addiction_Homo sapiens_hsa050320.69416533
66Primary bile acid biosynthesis_Homo sapiens_hsa001200.68190953
67Peroxisome_Homo sapiens_hsa041460.67740761
68cGMP-PKG signaling pathway_Homo sapiens_hsa040220.67527576
69Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.66400094
70Hedgehog signaling pathway_Homo sapiens_hsa043400.65988211
71Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.65475989
722-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.65217833
73Salivary secretion_Homo sapiens_hsa049700.65060673
74Renin secretion_Homo sapiens_hsa049240.64955131
75Lysine degradation_Homo sapiens_hsa003100.63522475
76Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.62550194
77Carbon metabolism_Homo sapiens_hsa012000.61488368
78Long-term depression_Homo sapiens_hsa047300.61346530
79Arachidonic acid metabolism_Homo sapiens_hsa005900.60144697
80Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.59919116
81Gap junction_Homo sapiens_hsa045400.59171802
82Cholinergic synapse_Homo sapiens_hsa047250.59169538
83Basal cell carcinoma_Homo sapiens_hsa052170.58281249
84Prion diseases_Homo sapiens_hsa050200.58120898
85Parkinsons disease_Homo sapiens_hsa050120.57816152
86Gastric acid secretion_Homo sapiens_hsa049710.54371999
87Oxidative phosphorylation_Homo sapiens_hsa001900.52267668
88Platelet activation_Homo sapiens_hsa046110.49931895
89PPAR signaling pathway_Homo sapiens_hsa033200.48727077
90Insulin secretion_Homo sapiens_hsa049110.47724599
91Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.46381245
92Notch signaling pathway_Homo sapiens_hsa043300.45269246
93Legionellosis_Homo sapiens_hsa051340.45061491
94Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.44648082
95Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.43310423
96Pentose and glucuronate interconversions_Homo sapiens_hsa000400.40772877
97Huntingtons disease_Homo sapiens_hsa050160.40160174
98Sphingolipid metabolism_Homo sapiens_hsa006000.39908186
99MAPK signaling pathway_Homo sapiens_hsa040100.39192265
100Glycerolipid metabolism_Homo sapiens_hsa005610.37298054

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