VEGFD

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: The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, and endothelial cell growth. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-2 and VEGFR-3 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor C. Read-through transcription has been observed between this locus and the upstream PIR (GeneID 8544) locus. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1chemical homeostasis within a tissue (GO:0048875)7.67109966
2surfactant homeostasis (GO:0043129)7.59291419
3peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)4.89869640
4muscle filament sliding (GO:0030049)4.82353908
5actin-myosin filament sliding (GO:0033275)4.82353908
6cellular response to nitric oxide (GO:0071732)4.51247248
7neuron projection extension involved in neuron projection guidance (GO:1902284)4.23610610
8axon extension involved in axon guidance (GO:0048846)4.23610610
9regulation of vasculogenesis (GO:2001212)4.23501212
10positive regulation of vasculogenesis (GO:2001214)4.14849960
11sarcoplasmic reticulum calcium ion transport (GO:0070296)4.05120593
12actin-mediated cell contraction (GO:0070252)3.93809433
13cellular response to reactive nitrogen species (GO:1902170)3.88229344
14regulation of chemokine-mediated signaling pathway (GO:0070099)3.86882171
15positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.83943451
16myofibril assembly (GO:0030239)3.82307363
17cell proliferation involved in metanephros development (GO:0072203)3.80656588
18cell migration involved in heart development (GO:0060973)3.77616381
19skeletal muscle contraction (GO:0003009)3.76003780
20regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.62837867
21cardiac myofibril assembly (GO:0055003)3.62837332
22negative regulation of vascular permeability (GO:0043116)3.62016748
23neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.54512288
24respiratory gaseous exchange (GO:0007585)3.50310830
25regulation of relaxation of muscle (GO:1901077)3.49874434
26fibroblast migration (GO:0010761)3.45193429
27regulation of glomerular filtration (GO:0003093)3.43423145
28ethanol oxidation (GO:0006069)3.37223018
29negative regulation of complement activation (GO:0045916)3.31668495
30regulation of sequestering of triglyceride (GO:0010889)3.27473709
31myotube differentiation (GO:0014902)3.26517845
32striated muscle contraction (GO:0006941)3.22719865
33regulation of skeletal muscle contraction (GO:0014819)3.21154901
34sarcomere organization (GO:0045214)3.16419166
35cardiac muscle contraction (GO:0060048)3.12189092
36response to nitric oxide (GO:0071731)3.11009513
37lung-associated mesenchyme development (GO:0060484)3.10902935
38regulation of cell communication by electrical coupling (GO:0010649)3.06401609
39regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.05970300
40regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.05505888
41cell proliferation involved in kidney development (GO:0072111)3.05273189
42actin filament-based movement (GO:0030048)3.04944414
43regulation of p38MAPK cascade (GO:1900744)3.02616531
44cellular response to epinephrine stimulus (GO:0071872)3.01891779
45negative regulation of smooth muscle cell differentiation (GO:0051151)3.01876772
46skeletal muscle fiber development (GO:0048741)2.99026463
47regulation of actin filament-based movement (GO:1903115)2.98324102
48positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.97866232
49response to inactivity (GO:0014854)2.97285599
50lung lobe morphogenesis (GO:0060463)2.96452413
51extracellular fibril organization (GO:0043206)2.96362833
52myotube cell development (GO:0014904)2.95530759
53positive regulation of p38MAPK cascade (GO:1900745)2.90084271
54negative regulation of protein activation cascade (GO:2000258)2.86230945
55cGMP-mediated signaling (GO:0019934)2.83844023
56regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.81655347
57regulation of integrin-mediated signaling pathway (GO:2001044)2.81347532
58muscle contraction (GO:0006936)2.81223944
59response to epinephrine (GO:0071871)2.80426484
60positive regulation of receptor recycling (GO:0001921)2.78872389
61response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.78415522
62lung vasculature development (GO:0060426)2.77405988
63branching involved in salivary gland morphogenesis (GO:0060445)2.74434999
64regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.73581291
65toxin metabolic process (GO:0009404)2.73158567
66extracellular matrix assembly (GO:0085029)2.73098809
67actomyosin structure organization (GO:0031032)2.66434739
68muscle fiber development (GO:0048747)2.66279201
69cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.63752045
70creatine metabolic process (GO:0006600)2.61745675
71glomerular filtration (GO:0003094)2.60110895
72muscle cell cellular homeostasis (GO:0046716)2.56821409
73fatty acid transmembrane transport (GO:1902001)2.54700836
74transcytosis (GO:0045056)2.54315830
75negative regulation of catenin import into nucleus (GO:0035414)2.52292456
76endocrine hormone secretion (GO:0060986)2.52180997
77regulation of endothelial cell differentiation (GO:0045601)2.51770676
78cGMP biosynthetic process (GO:0006182)2.51565081
79skeletal muscle tissue development (GO:0007519)2.50475448
80polyol transport (GO:0015791)2.50421772
81mesenchymal cell proliferation (GO:0010463)2.50294497
82muscle system process (GO:0003012)2.49353306
83triglyceride catabolic process (GO:0019433)2.48393418
84regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.48360281
85adult heart development (GO:0007512)2.46622657
86lymph vessel development (GO:0001945)2.46173885
87ethanol metabolic process (GO:0006067)2.46120166
88negative regulation of humoral immune response (GO:0002921)2.45265651
89regulation of vascular permeability (GO:0043114)2.44598271
90membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.43300193
91cardiac muscle tissue morphogenesis (GO:0055008)2.42780114
92endothelium development (GO:0003158)2.42068658
93glucan biosynthetic process (GO:0009250)2.42058558
94glycogen biosynthetic process (GO:0005978)2.42058558
95cardiac muscle hypertrophy (GO:0003300)2.42024477
96fibril organization (GO:0097435)2.41119457
97carnitine shuttle (GO:0006853)2.40359349
98striated muscle hypertrophy (GO:0014897)2.38103483
99muscle tissue morphogenesis (GO:0060415)2.37710638
100hippo signaling (GO:0035329)2.37051847

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human3.03205272
2TRIM28_21343339_ChIP-Seq_HEK293_Human3.01529817
3PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.77586246
4RARG_19884340_ChIP-ChIP_MEFs_Mouse2.54271181
5BP1_19119308_ChIP-ChIP_Hs578T_Human2.45987474
6EP300_21415370_ChIP-Seq_HL-1_Mouse2.45619619
7ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.31643394
8TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.16275168
9EED_16625203_ChIP-ChIP_MESCs_Mouse2.09689314
10CLOCK_20551151_ChIP-Seq_293T_Human2.08125319
11SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.07981117
12GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.06807452
13RNF2_18974828_ChIP-Seq_MESCs_Mouse2.06553629
14EZH2_18974828_ChIP-Seq_MESCs_Mouse2.06553629
15SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.03931678
16CDX2_19796622_ChIP-Seq_MESCs_Mouse2.01423430
17SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.98492918
18TBX20_22328084_ChIP-Seq_HEART_Mouse1.98440424
19TBX20_22080862_ChIP-Seq_HEART_Mouse1.98440424
20CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.97194362
21SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.90833382
22STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.88294613
23ESR1_21235772_ChIP-Seq_MCF-7_Human1.85285600
24JARID2_20075857_ChIP-Seq_MESCs_Mouse1.82819532
25EZH2_27304074_Chip-Seq_ESCs_Mouse1.82021694
26NR3C1_23031785_ChIP-Seq_PC12_Mouse1.81816950
27EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.79670364
28SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.71503907
29MTF2_20144788_ChIP-Seq_MESCs_Mouse1.68162901
30RNF2_27304074_Chip-Seq_ESCs_Mouse1.65470512
31PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.63655748
32TCF4_18268006_ChIP-ChIP_LS174T_Human1.63025709
33ESR2_21235772_ChIP-Seq_MCF-7_Human1.62171480
34WT1_19549856_ChIP-ChIP_CCG9911_Human1.53347909
35NFIB_24661679_ChIP-Seq_LUNG_Mouse1.47480017
36EZH2_27294783_Chip-Seq_ESCs_Mouse1.47467663
37ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.46100351
38CBX2_27304074_Chip-Seq_ESCs_Mouse1.45074739
39GATA1_22025678_ChIP-Seq_K562_Human1.42576101
40ESR1_20079471_ChIP-ChIP_T-47D_Human1.42399219
41JARID2_20064375_ChIP-Seq_MESCs_Mouse1.42321049
42TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.41177369
43CJUN_26792858_Chip-Seq_BT549_Human1.37214556
44GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.35401702
45SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.35300454
46THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.33790155
47TP53_20018659_ChIP-ChIP_R1E_Mouse1.32505118
48RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.32010335
49CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.29848154
50PIAS1_25552417_ChIP-Seq_VCAP_Human1.29508719
51WT1_25993318_ChIP-Seq_PODOCYTE_Human1.29309997
52AR_21572438_ChIP-Seq_LNCaP_Human1.27536837
53SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.25460442
54ISL1_27105846_Chip-Seq_CPCs_Mouse1.24716084
55PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.24344524
56NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.23984623
57NRF2_20460467_ChIP-Seq_MEFs_Mouse1.23984623
58CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.23340338
59PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.22349453
60PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.19766882
61ZNF217_24962896_ChIP-Seq_MCF-7_Human1.18466195
62RING1B_27294783_Chip-Seq_ESCs_Mouse1.18295882
63BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.17834016
64FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.16390593
65SUZ12_27294783_Chip-Seq_ESCs_Mouse1.16244264
66TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.14711358
67WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.14549781
68RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.12556295
69LXR_22158963_ChIP-Seq_LIVER_Mouse1.12527087
70NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.12283815
71DROSHA_22980978_ChIP-Seq_HELA_Human1.10226177
72GATA2_21666600_ChIP-Seq_HMVEC_Human1.07048130
73MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.05473020
74PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.04380357
75HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.04318299
76SMAD_19615063_ChIP-ChIP_OVARY_Human1.04215723
77MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.03722393
78GBX2_23144817_ChIP-Seq_PC3_Human1.01131864
79SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.00973766
80AHR_22903824_ChIP-Seq_MCF-7_Human1.00039166
81CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.99744239
82SALL4_18804426_ChIP-ChIP_XEN_Mouse0.97123639
83RING1B_27294783_Chip-Seq_NPCs_Mouse0.96745178
84AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.95623784
85YAP1_20516196_ChIP-Seq_MESCs_Mouse0.94929244
86ERG_21242973_ChIP-ChIP_JURKAT_Human0.94739076
87PPAR_26484153_Chip-Seq_NCI-H1993_Human0.93003560
88VDR_22108803_ChIP-Seq_LS180_Human0.92868130
89TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.91537587
90OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.91343085
91ZFP57_27257070_Chip-Seq_ESCs_Mouse0.91275447
92PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.91183732
93NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.91022909
94SOX9_24532713_ChIP-Seq_HFSC_Mouse0.91004171
95SMAD3_21741376_ChIP-Seq_HESCs_Human0.90962289
96SMAD4_21741376_ChIP-Seq_HESCs_Human0.90783643
97BMI1_23680149_ChIP-Seq_NPCS_Mouse0.90687997
98KDM2B_26808549_Chip-Seq_K562_Human0.90074373
99OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.89195264
100PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.89022508

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000751_myopathy3.89658489
2MP0001958_emphysema3.53295032
3MP0004782_abnormal_surfactant_physiolog3.46509838
4MP0005670_abnormal_white_adipose3.22963672
5MP0010368_abnormal_lymphatic_system3.08043943
6MP0006138_congestive_heart_failure2.80813205
7MP0004145_abnormal_muscle_electrophysio2.77580216
8MP0005503_abnormal_tendon_morphology2.67054523
9MP0005275_abnormal_skin_tensile2.66427556
10MP0008438_abnormal_cutaneous_collagen2.52188833
11MP0000749_muscle_degeneration2.48574166
12MP0004036_abnormal_muscle_relaxation2.47627217
13MP0003646_muscle_fatigue2.33495257
14MP0004084_abnormal_cardiac_muscle2.33347367
15MP0004130_abnormal_muscle_cell2.32489417
16MP0000566_synostosis2.26671557
17MP0001879_abnormal_lymphatic_vessel2.15199664
18MP0004272_abnormal_basement_membrane2.08663178
19MP0005330_cardiomyopathy2.05625702
20MP0003950_abnormal_plasma_membrane2.03392541
21MP0005666_abnormal_adipose_tissue1.99785947
22MP0005167_abnormal_blood-brain_barrier1.98588932
23MP0004087_abnormal_muscle_fiber1.98034444
24MP0002102_abnormal_ear_morphology1.93051942
25MP0002106_abnormal_muscle_physiology1.87319259
26MP0001544_abnormal_cardiovascular_syste1.85253264
27MP0005385_cardiovascular_system_phenoty1.85253264
28MP0002108_abnormal_muscle_morphology1.84419772
29MP0005369_muscle_phenotype1.77629884
30MP0000759_abnormal_skeletal_muscle1.76356186
31MP0002332_abnormal_exercise_endurance1.76223990
32MP0008995_early_reproductive_senescence1.73927629
33MP0005620_abnormal_muscle_contractility1.73417232
34MP0004215_abnormal_myocardial_fiber1.73251876
35MP0000747_muscle_weakness1.69363802
36MP0000013_abnormal_adipose_tissue1.65214241
37MP0002972_abnormal_cardiac_muscle1.64108182
38MP0005388_respiratory_system_phenotype1.53917141
39MP0002133_abnormal_respiratory_system1.53917141
40MP0005375_adipose_tissue_phenotype1.51534730
41MP0004484_altered_response_of1.49187586
42MP0010030_abnormal_orbit_morphology1.48467022
43MP0002837_dystrophic_cardiac_calcinosis1.46380607
44MP0008004_abnormal_stomach_pH1.46181024
45MP0000750_abnormal_muscle_regeneration1.44235325
46MP0002971_abnormal_brown_adipose1.43341741
47MP0002295_abnormal_pulmonary_circulatio1.40373495
48MP0005595_abnormal_vascular_smooth1.40107263
49MP0003828_pulmonary_edema1.39678837
50MP0003283_abnormal_digestive_organ1.36156856
51MP0001984_abnormal_olfaction1.32776211
52MP0003091_abnormal_cell_migration1.28392145
53MP0000462_abnormal_digestive_system1.27803810
54MP0001542_abnormal_bone_strength1.26223548
55MP0002269_muscular_atrophy1.25506094
56MP0001440_abnormal_grooming_behavior1.24779165
57MP0003279_aneurysm1.23786740
58MP0003705_abnormal_hypodermis_morpholog1.22439715
59MP0010630_abnormal_cardiac_muscle1.22250414
60MP0008775_abnormal_heart_ventricle1.21069199
61MP0002638_abnormal_pupillary_reflex1.19570339
62MP0003941_abnormal_skin_development1.19298552
63MP0003011_delayed_dark_adaptation1.17746731
64MP0001177_atelectasis1.17256497
65MP0001661_extended_life_span1.06182044
66MP0003115_abnormal_respiratory_system1.05413616
67MP0000767_abnormal_smooth_muscle1.05004798
68MP0005508_abnormal_skeleton_morphology1.00640234
69MP0005165_increased_susceptibility_to1.00123372
70MP0003303_peritoneal_inflammation0.97763447
71MP0005171_absent_coat_pigmentation0.97639623
72MP0002128_abnormal_blood_circulation0.95999778
73MP0003724_increased_susceptibility_to0.95997866
74MP0005164_abnormal_response_to0.95012105
75MP0000733_abnormal_muscle_development0.93925347
76MP0004085_abnormal_heartbeat0.93888195
77MP0004883_abnormal_blood_vessel0.92022099
78MP0003137_abnormal_impulse_conducting0.90605984
79MP0000003_abnormal_adipose_tissue0.89449145
80MP0002127_abnormal_cardiovascular_syste0.89156677
81MP0000343_altered_response_to0.87075016
82MP0004185_abnormal_adipocyte_glucose0.85748111
83MP0001175_abnormal_lung_morphology0.81868604
84MP0000049_abnormal_middle_ear0.79707894
85MP0003567_abnormal_fetal_cardiomyocyte0.79080290
86MP0001851_eye_inflammation0.76716259
87MP0000249_abnormal_blood_vessel0.75670818
88MP0000534_abnormal_ureter_morphology0.75458821
89MP0000266_abnormal_heart_morphology0.74332095
90MP0003690_abnormal_glial_cell0.73464800
91MP0001299_abnormal_eye_distance/0.72185580
92MP0009250_abnormal_appendicular_skeleto0.70588127
93MP0003385_abnormal_body_wall0.70488486
94MP0005334_abnormal_fat_pad0.70437570
95MP0002896_abnormal_bone_mineralization0.69744247
96MP0003948_abnormal_gas_homeostasis0.68588141
97MP0009115_abnormal_fat_cell0.68020527
98MP0002998_abnormal_bone_remodeling0.66113741
99MP0005535_abnormal_body_temperature0.65291168
100MP0001614_abnormal_blood_vessel0.65148768

Predicted human phenotypes

RankGene SetZ-score
1Nemaline bodies (HP:0003798)6.13038331
2Interstitial pulmonary disease (HP:0006530)6.03330324
3Muscle fiber inclusion bodies (HP:0100299)6.02200082
4Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.86334853
5Type 1 muscle fiber predominance (HP:0003803)5.74164693
6Muscle fiber splitting (HP:0003555)4.66510114
7Bundle branch block (HP:0011710)4.50414764
8Exercise-induced muscle cramps (HP:0003710)4.28480558
9Exercise-induced myalgia (HP:0003738)4.25981231
10Increased connective tissue (HP:0009025)4.11515918
11Muscle hypertrophy of the lower extremities (HP:0008968)3.81197255
12Asymmetric septal hypertrophy (HP:0001670)3.73834466
13Distal arthrogryposis (HP:0005684)3.72207063
14Sudden death (HP:0001699)3.68437335
15Round ear (HP:0100830)3.62096988
16Abnormality of skeletal muscle fiber size (HP:0012084)3.54390304
17Abnormality of the calf musculature (HP:0001430)3.49226451
18Calf muscle hypertrophy (HP:0008981)3.49159873
19Hyporeflexia of lower limbs (HP:0002600)3.39602656
20Increased variability in muscle fiber diameter (HP:0003557)3.36543517
21EMG: myopathic abnormalities (HP:0003458)3.33346456
22Difficulty running (HP:0009046)3.32940220
23Heart block (HP:0012722)3.32594027
24Myotonia (HP:0002486)3.28452287
25Abnormal atrioventricular conduction (HP:0005150)3.26631479
26Myoglobinuria (HP:0002913)3.25899901
27Tubulointerstitial fibrosis (HP:0005576)3.22248014
28Rhabdomyolysis (HP:0003201)3.09067373
29Distal lower limb muscle weakness (HP:0009053)3.03611554
30Neck muscle weakness (HP:0000467)3.02998621
31Aortic aneurysm (HP:0004942)2.97563973
32Frequent falls (HP:0002359)2.96110460
33Complement deficiency (HP:0004431)2.95195000
34Systemic lupus erythematosus (HP:0002725)2.84291996
35Abnormality of the left ventricular outflow tract (HP:0011103)2.80982872
36Subaortic stenosis (HP:0001682)2.80982872
37Respiratory distress (HP:0002098)2.80606668
38Centrally nucleated skeletal muscle fibers (HP:0003687)2.78329942
39Spinal rigidity (HP:0003306)2.74829877
40Atrioventricular block (HP:0001678)2.69350295
41Myopathic facies (HP:0002058)2.60494196
42Hyperkalemia (HP:0002153)2.59138290
43Lipoatrophy (HP:0100578)2.58773307
44Midline defect of the nose (HP:0004122)2.50150525
45Rimmed vacuoles (HP:0003805)2.48427676
46Protrusio acetabuli (HP:0003179)2.48293502
47Oligomenorrhea (HP:0000876)2.46938245
48Atrial fibrillation (HP:0005110)2.43624395
49Mildly elevated creatine phosphokinase (HP:0008180)2.40236074
50Calcaneovalgus deformity (HP:0001848)2.40089502
51Lymphangioma (HP:0100764)2.38417410
52Tachypnea (HP:0002789)2.37247488
53Abnormality of complement system (HP:0005339)2.36763302
54Dilated cardiomyopathy (HP:0001644)2.29913303
55Polycythemia (HP:0001901)2.25808637
56Primary atrial arrhythmia (HP:0001692)2.22830710
57Abnormality of the foot musculature (HP:0001436)2.20850183
58Syncope (HP:0001279)2.19425779
59Hip contracture (HP:0003273)2.17154240
60Ulnar deviation of the wrist (HP:0003049)2.13648805
61Pulmonary artery stenosis (HP:0004415)2.12144262
62Vascular tortuosity (HP:0004948)2.12041610
63Prolonged QT interval (HP:0001657)2.11220939
64Tubulointerstitial abnormality (HP:0001969)2.11114774
65Abnormality of the ischium (HP:0003174)2.10669142
66Striae distensae (HP:0001065)2.10468145
67Ventricular tachycardia (HP:0004756)2.10373875
68Broad metatarsal (HP:0001783)2.08591146
69Glomerulonephritis (HP:0000099)2.07681128
70Foot dorsiflexor weakness (HP:0009027)2.06644739
71Deformed tarsal bones (HP:0008119)2.06366780
72Supraventricular tachycardia (HP:0004755)2.05650655
73Distal lower limb amyotrophy (HP:0008944)2.05424936
74Muscle stiffness (HP:0003552)2.04129687
75Supraventricular arrhythmia (HP:0005115)2.02137856
76Proximal amyotrophy (HP:0007126)2.01650184
77Cerebral aneurysm (HP:0004944)1.95625226
78Ventricular arrhythmia (HP:0004308)1.94650443
79Absent phalangeal crease (HP:0006109)1.94305304
80Generalized muscle weakness (HP:0003324)1.93879321
81Slender build (HP:0001533)1.91285787
82Scapular winging (HP:0003691)1.86486376
83Skin nodule (HP:0200036)1.85403117
84Bulbar palsy (HP:0001283)1.83562547
85Aplasia of the musculature (HP:0100854)1.79001543
86Abnormality of the phalanges of the 2nd finger (HP:0009541)1.75808782
87Abnormality of the calcaneus (HP:0008364)1.74744722
88Mitral valve prolapse (HP:0001634)1.74328885
89Exertional dyspnea (HP:0002875)1.73721386
90Limited hip movement (HP:0008800)1.73297043
91Areflexia of lower limbs (HP:0002522)1.73012730
92Gowers sign (HP:0003391)1.72442462
93Pulmonary hypertension (HP:0002092)1.71279970
94Acanthosis nigricans (HP:0000956)1.70687619
95Camptodactyly of toe (HP:0001836)1.70296985
96Nonprogressive disorder (HP:0003680)1.66306759
97EMG: neuropathic changes (HP:0003445)1.65958977
98Ventricular fibrillation (HP:0001663)1.64220810
99Incomplete penetrance (HP:0003829)1.63557779
100Rapidly progressive (HP:0003678)1.62954745

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN5.09183678
2TTN3.83772394
3TIE13.43794260
4MYLK2.72496095
5NEK92.58319325
6EPHB22.51449260
7RIPK12.44039853
8DDR22.41855821
9LATS22.35511972
10TGFBR22.30098824
11LATS12.28766608
12PHKG22.25609482
13PHKG12.25609482
14MARK12.09471969
15ICK1.92743321
16PIK3CG1.84056049
17MAP3K71.83239194
18MAP3K61.59267925
19MAPK71.52611963
20DMPK1.47684676
21MAPK151.46890138
22PDGFRA1.46676543
23KDR1.32147766
24TRPM71.32085199
25EEF2K1.28718820
26MAPK121.28709282
27GRK51.24425916
28TRIB31.22580278
29MAPK41.20405697
30MAP3K101.15222638
31PRKAA21.13926229
32PINK11.13518235
33MAPKAPK31.11517691
34FGFR21.05656574
35PRKD11.04784384
36NTRK11.03929771
37LRRK21.02475600
38CAMK11.01120002
39FER1.00617918
40MARK20.97351194
41MOS0.94911650
42LIMK10.92619957
43MET0.90983827
44CDC42BPA0.90892287
45DAPK20.88062137
46MAP3K40.86614862
47TESK10.85001269
48MST1R0.81861828
49MAP3K130.81332304
50PDGFRB0.73889824
51GRK70.72050536
52GSK3A0.70656683
53ALK0.68125376
54CAMK40.66640314
55NTRK30.64378522
56GRK10.63540059
57DYRK1B0.62022643
58ROCK10.60236575
59ABL20.59141611
60ZAP700.58880367
61PRKG10.57102097
62NLK0.55707602
63PDPK10.55257940
64ERBB30.54971649
65WNK10.54379260
66CDK30.53351693
67CAMK2G0.53123678
68AKT30.52319360
69UHMK10.52298767
70EPHB10.52215505
71STK38L0.49638524
72AKT20.47841198
73PAK30.47002975
74CAMK2A0.44918989
75RPS6KA30.44792191
76SGK20.44788158
77PKN10.44779245
78PDK20.44490651
79EPHA30.44064097
80CSNK1G20.43411829
81PRKACA0.43075827
82CAMKK20.41910795
83RPS6KL10.41846131
84RPS6KC10.41846131
85CAMK2B0.40937042
86PRKAA10.40677525
87STK240.40453068
88IRAK10.40219850
89RPS6KA60.39721101
90CAMK2D0.39382575
91ILK0.39198700
92PRKACG0.39169424
93MTOR0.38748194
94CASK0.38141853
95ADRBK10.37475906
96PAK20.36649659
97RPS6KA20.36567744
98MAPK90.36199067
99SIK10.34363952
100MAPK30.33837883

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.08998684
2Dilated cardiomyopathy_Homo sapiens_hsa054143.02106507
3Fatty acid degradation_Homo sapiens_hsa000712.51547262
4Phenylalanine metabolism_Homo sapiens_hsa003602.51313412
5Histidine metabolism_Homo sapiens_hsa003402.49940610
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.38336336
7Regulation of lipolysis in adipocytes_Homo sapiens_hsa049232.34298325
8PPAR signaling pathway_Homo sapiens_hsa033202.21262138
9Tryptophan metabolism_Homo sapiens_hsa003802.16581418
10Cardiac muscle contraction_Homo sapiens_hsa042602.16127908
11Tyrosine metabolism_Homo sapiens_hsa003502.05142647
12ECM-receptor interaction_Homo sapiens_hsa045122.04718427
13Renin secretion_Homo sapiens_hsa049241.77656296
14Pertussis_Homo sapiens_hsa051331.72969298
15Oxytocin signaling pathway_Homo sapiens_hsa049211.58149973
16Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.57661898
17Circadian rhythm_Homo sapiens_hsa047101.53134297
18Vascular smooth muscle contraction_Homo sapiens_hsa042701.52807462
19Pyruvate metabolism_Homo sapiens_hsa006201.51791358
20beta-Alanine metabolism_Homo sapiens_hsa004101.48108649
21Focal adhesion_Homo sapiens_hsa045101.41537714
22Viral myocarditis_Homo sapiens_hsa054161.40959434
232-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.34721369
24Complement and coagulation cascades_Homo sapiens_hsa046101.32729807
25Adherens junction_Homo sapiens_hsa045201.30442744
26AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.28953787
27ABC transporters_Homo sapiens_hsa020101.26287396
28cGMP-PKG signaling pathway_Homo sapiens_hsa040221.21260618
29Tight junction_Homo sapiens_hsa045301.18470951
30Adipocytokine signaling pathway_Homo sapiens_hsa049201.15536962
31Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.12988294
32Ovarian steroidogenesis_Homo sapiens_hsa049131.10893437
33Staphylococcus aureus infection_Homo sapiens_hsa051501.10351851
34Fatty acid metabolism_Homo sapiens_hsa012121.08737573
35Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.02365976
36Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.01524133
37Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.01433187
38Insulin signaling pathway_Homo sapiens_hsa049100.99469732
39Basal cell carcinoma_Homo sapiens_hsa052170.98032967
40Gap junction_Homo sapiens_hsa045400.94415918
41Aldosterone synthesis and secretion_Homo sapiens_hsa049250.92985024
42Axon guidance_Homo sapiens_hsa043600.92646004
43Malaria_Homo sapiens_hsa051440.90403346
44Amoebiasis_Homo sapiens_hsa051460.87893446
45Propanoate metabolism_Homo sapiens_hsa006400.87560567
46Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.86786847
47AMPK signaling pathway_Homo sapiens_hsa041520.86604726
48Insulin resistance_Homo sapiens_hsa049310.84515596
49Glycerolipid metabolism_Homo sapiens_hsa005610.84064247
50Asthma_Homo sapiens_hsa053100.83354372
51Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.81109835
52Circadian entrainment_Homo sapiens_hsa047130.77245216
53Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.76508582
54Phagosome_Homo sapiens_hsa041450.76496792
55Protein digestion and absorption_Homo sapiens_hsa049740.76459745
56GnRH signaling pathway_Homo sapiens_hsa049120.75900227
57Prion diseases_Homo sapiens_hsa050200.72756183
58Fatty acid elongation_Homo sapiens_hsa000620.69422330
59Calcium signaling pathway_Homo sapiens_hsa040200.68764366
60Arginine and proline metabolism_Homo sapiens_hsa003300.67183167
61Mineral absorption_Homo sapiens_hsa049780.65488903
62Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.62699793
63Bile secretion_Homo sapiens_hsa049760.62364464
64Long-term depression_Homo sapiens_hsa047300.62356671
65MAPK signaling pathway_Homo sapiens_hsa040100.62086543
66Hippo signaling pathway_Homo sapiens_hsa043900.61897411
67Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.61104110
68Dorso-ventral axis formation_Homo sapiens_hsa043200.60112041
69Phospholipase D signaling pathway_Homo sapiens_hsa040720.60021281
70Serotonergic synapse_Homo sapiens_hsa047260.58608988
71FoxO signaling pathway_Homo sapiens_hsa040680.57553753
72Hedgehog signaling pathway_Homo sapiens_hsa043400.53465773
73Gastric acid secretion_Homo sapiens_hsa049710.52089185
74Alzheimers disease_Homo sapiens_hsa050100.50862479
75Glucagon signaling pathway_Homo sapiens_hsa049220.50801878
76Wnt signaling pathway_Homo sapiens_hsa043100.50216485
77Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.50215273
78TGF-beta signaling pathway_Homo sapiens_hsa043500.49380158
79Proteoglycans in cancer_Homo sapiens_hsa052050.47310885
80Melanoma_Homo sapiens_hsa052180.46886381
81Arginine biosynthesis_Homo sapiens_hsa002200.46139861
82Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.46063854
83Melanogenesis_Homo sapiens_hsa049160.45974343
84Pathways in cancer_Homo sapiens_hsa052000.44828529
85Nitrogen metabolism_Homo sapiens_hsa009100.44420649
86cAMP signaling pathway_Homo sapiens_hsa040240.42623967
87PI3K-Akt signaling pathway_Homo sapiens_hsa041510.40942938
88Renal cell carcinoma_Homo sapiens_hsa052110.40895876
89Long-term potentiation_Homo sapiens_hsa047200.38332144
90Lysine degradation_Homo sapiens_hsa003100.38281490
91Small cell lung cancer_Homo sapiens_hsa052220.38041957
92Toxoplasmosis_Homo sapiens_hsa051450.37868827
93Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.36061224
94Cholinergic synapse_Homo sapiens_hsa047250.34980856
95Glutamatergic synapse_Homo sapiens_hsa047240.34589608
96Glycosaminoglycan degradation_Homo sapiens_hsa005310.34366397
97Regulation of actin cytoskeleton_Homo sapiens_hsa048100.34178916
98alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.32045841
99Longevity regulating pathway - mammal_Homo sapiens_hsa042110.30647760
100Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.30306803

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