PDGFRB

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 cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein heterotrimerization (GO:0070208)7.29196780
2collagen fibril organization (GO:0030199)6.04369988
3bone trabecula formation (GO:0060346)5.44256933
4chondrocyte proliferation (GO:0035988)5.37167063
5neuron projection extension involved in neuron projection guidance (GO:1902284)4.79897938
6axon extension involved in axon guidance (GO:0048846)4.79897938
7skin morphogenesis (GO:0043589)4.71349809
8sequestering of extracellular ligand from receptor (GO:0035581)4.61846081
9endodermal cell differentiation (GO:0035987)4.61488227
10retina vasculature morphogenesis in camera-type eye (GO:0061299)4.38667868
11glomerular basement membrane development (GO:0032836)4.34882970
12collagen metabolic process (GO:0032963)4.25644909
13plasma membrane repair (GO:0001778)4.25176027
14collagen catabolic process (GO:0030574)4.18254795
15basement membrane organization (GO:0071711)4.17847541
16peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)4.13714459
17regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.08352647
18glomerular filtration (GO:0003094)4.07244840
19multicellular organismal macromolecule metabolic process (GO:0044259)4.04651379
20multicellular organismal catabolic process (GO:0044243)3.88780970
21positive regulation of endothelial cell apoptotic process (GO:2000353)3.87045725
22renal filtration (GO:0097205)3.86352327
23type B pancreatic cell proliferation (GO:0044342)3.82297418
24multicellular organismal metabolic process (GO:0044236)3.80627760
25adhesion of symbiont to host cell (GO:0044650)3.80261901
26virion attachment to host cell (GO:0019062)3.80261901
27* vascular endothelial growth factor signaling pathway (GO:0038084)3.76325118
28glomerular visceral epithelial cell development (GO:0072015)3.72117706
29* cell migration involved in heart development (GO:0060973)3.67383888
30dermatan sulfate biosynthetic process (GO:0030208)3.66044136
31cell adhesion mediated by integrin (GO:0033627)3.64183823
32atrioventricular valve morphogenesis (GO:0003181)3.60873144
33extracellular matrix assembly (GO:0085029)3.58233036
34blood vessel maturation (GO:0001955)3.53657297
35extracellular matrix disassembly (GO:0022617)3.51639233
36trabecula formation (GO:0060343)3.49037465
37cell migration involved in sprouting angiogenesis (GO:0002042)3.46391127
38extracellular fibril organization (GO:0043206)3.44651907
39apoptotic cell clearance (GO:0043277)3.41869531
40cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.38606889
41epithelial cell-cell adhesion (GO:0090136)3.38006890
42dermatan sulfate metabolic process (GO:0030205)3.35498574
43endothelial cell morphogenesis (GO:0001886)3.33229423
44endocardial cushion morphogenesis (GO:0003203)3.32515871
45adhesion of symbiont to host (GO:0044406)3.32255392
46barbed-end actin filament capping (GO:0051016)3.28810325
47planar cell polarity pathway involved in neural tube closure (GO:0090179)3.26339380
48negative regulation of fatty acid transport (GO:2000192)3.25901576
49wound healing, spreading of epidermal cells (GO:0035313)3.24873740
50regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.24547898
51mesenchymal-epithelial cell signaling (GO:0060638)3.23674252
52glomerular epithelial cell development (GO:0072310)3.21546256
53* cellular response to vascular endothelial growth factor stimulus (GO:0035924)3.20752222
54positive regulation of epithelial to mesenchymal transition (GO:0010718)3.13527384
55substrate-dependent cell migration (GO:0006929)3.13268537
56fibril organization (GO:0097435)3.12751190
57regulation of extracellular matrix disassembly (GO:0010715)3.10165646
58regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.09517329
59regulation of tight junction assembly (GO:2000810)3.08055890
60negative regulation of chondrocyte differentiation (GO:0032331)3.06981179
61negative regulation of catenin import into nucleus (GO:0035414)3.04830895
62mesenchyme morphogenesis (GO:0072132)3.02222838
63stress fiber assembly (GO:0043149)2.99327002
64craniofacial suture morphogenesis (GO:0097094)2.97154362
65vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.95188481
66positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.91811427
67cellular response to vitamin (GO:0071295)2.91584012
68insulin-like growth factor receptor signaling pathway (GO:0048009)2.90995520
69hippo signaling (GO:0035329)2.90463262
70lymph vessel development (GO:0001945)2.89477649
71regulation of axon extension involved in axon guidance (GO:0048841)2.88927153
72venous blood vessel morphogenesis (GO:0048845)2.88722352
73patterning of blood vessels (GO:0001569)2.87691815
74chondroitin sulfate catabolic process (GO:0030207)2.86063379
75extracellular matrix organization (GO:0030198)2.85006402
76substrate adhesion-dependent cell spreading (GO:0034446)2.83912660
77blood vessel endothelial cell migration (GO:0043534)2.83855045
78extracellular structure organization (GO:0043062)2.83652895
79germ cell migration (GO:0008354)2.82648334
80protein localization to cell surface (GO:0034394)2.82298126
81cardiac muscle cell proliferation (GO:0060038)2.80468236
82epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.80443909
83regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.78783491
84outer ear morphogenesis (GO:0042473)2.78684519
85epoxygenase P450 pathway (GO:0019373)2.78677939
86* cardiac myofibril assembly (GO:0055003)2.77993117
87regulation of integrin-mediated signaling pathway (GO:2001044)2.76894088
88glomerulus development (GO:0032835)2.76585407
89endocardial cushion development (GO:0003197)2.75955086
90positive regulation of blood vessel endothelial cell migration (GO:0043536)2.75113481
91cellular response to vitamin D (GO:0071305)2.74630717
92negative regulation of smooth muscle cell migration (GO:0014912)2.73960652
93cellular response to amino acid stimulus (GO:0071230)2.72014594
94adherens junction assembly (GO:0034333)2.71603412
95coronary vasculature morphogenesis (GO:0060977)2.70403311
96heart trabecula formation (GO:0060347)2.70077553
97lymphangiogenesis (GO:0001946)2.68959187
98chondrocyte development (GO:0002063)2.67434958
99peptidyl-proline hydroxylation (GO:0019511)2.66117139
100regulation of axon guidance (GO:1902667)2.62916730
101chondroitin sulfate biosynthetic process (GO:0030206)2.62876982
102G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.61466353
103positive regulation of mesenchymal cell proliferation (GO:0002053)2.61107297
104tooth mineralization (GO:0034505)2.60009074
105cell-substrate junction assembly (GO:0007044)2.59775120
106focal adhesion assembly (GO:0048041)2.59289612
107cell-substrate adherens junction assembly (GO:0007045)2.59289612
108induction of positive chemotaxis (GO:0050930)2.58850764
109positive regulation of fibroblast migration (GO:0010763)2.58491669
110positive regulation of extracellular matrix organization (GO:1903055)2.56795797
111polarized epithelial cell differentiation (GO:0030859)2.56777609
112keratan sulfate catabolic process (GO:0042340)2.56457004
113negative regulation of cartilage development (GO:0061037)2.55894106
114cell-matrix adhesion (GO:0007160)2.55471484
115cochlea morphogenesis (GO:0090103)2.55171361
116negative regulation of BMP signaling pathway (GO:0030514)2.54323382
117endocrine hormone secretion (GO:0060986)2.54083624
118embryonic cranial skeleton morphogenesis (GO:0048701)2.53711846
119negative regulation of cardiac muscle cell apoptotic process (GO:0010667)2.53323472
120positive regulation of osteoblast proliferation (GO:0033690)2.52148782
121regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.51432601
122negative regulation of axon extension involved in axon guidance (GO:0048843)2.51143747
123extracellular negative regulation of signal transduction (GO:1900116)2.51100960
124extracellular regulation of signal transduction (GO:1900115)2.51100960
125positive regulation of receptor recycling (GO:0001921)2.41168836
126Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.40913376
127glycosaminoglycan catabolic process (GO:0006027)2.39588677
128cell-substrate adhesion (GO:0031589)2.39221704
129negative regulation of embryonic development (GO:0045992)2.36686442
130paraxial mesoderm development (GO:0048339)2.36074278
131regulation of cartilage development (GO:0061035)2.35663101

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human5.66808380
2RARG_19884340_ChIP-ChIP_MEFs_Mouse4.38200803
3PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.74544801
4CLOCK_20551151_ChIP-Seq_293T_Human3.54382300
5TP63_17297297_ChIP-ChIP_HaCaT_Human3.43845032
6* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.89882629
7* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.78682230
8ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.73257518
9PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.64819638
10NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.62127944
11EP300_21415370_ChIP-Seq_HL-1_Mouse2.52404296
12* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.51212785
13WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.41149325
14WT1_19549856_ChIP-ChIP_CCG9911_Human2.30098098
15* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.15085560
16TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.11732383
17CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.09570275
18CJUN_26792858_Chip-Seq_BT549_Human2.08841572
19ELK3_25401928_ChIP-Seq_HUVEC_Human2.03925231
20ESR2_21235772_ChIP-Seq_MCF-7_Human1.97252531
21TBX20_22328084_ChIP-Seq_HEART_Mouse1.82956417
22TBX20_22080862_ChIP-Seq_HEART_Mouse1.82956417
23* BRD4_25478319_ChIP-Seq_HGPS_Human1.82177166
24EED_16625203_ChIP-ChIP_MESCs_Mouse1.81220183
25HIF1A_21447827_ChIP-Seq_MCF-7_Human1.80374193
26KDM2B_26808549_Chip-Seq_SUP-B15_Human1.72803958
27EGR1_19374776_ChIP-ChIP_THP-1_Human1.68574456
28EZH2_18974828_ChIP-Seq_MESCs_Mouse1.66685402
29RNF2_18974828_ChIP-Seq_MESCs_Mouse1.66685402
30ESR1_21235772_ChIP-Seq_MCF-7_Human1.66064438
31SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.62062945
32SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.60981646
33TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.59095532
34TP53_20018659_ChIP-ChIP_R1E_Mouse1.57541939
35ZFP281_18757296_ChIP-ChIP_E14_Mouse1.55016284
36PPAR_26484153_Chip-Seq_NCI-H1993_Human1.54414457
37SMC1_22415368_ChIP-Seq_MEFs_Mouse1.51209819
38P300_27058665_Chip-Seq_ZR-75-30cells_Human1.50626261
39STAT6_21828071_ChIP-Seq_BEAS2B_Human1.49135472
40SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.43636699
41NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.42880851
42NRF2_20460467_ChIP-Seq_MEFs_Mouse1.42880851
43CDX2_19796622_ChIP-Seq_MESCs_Mouse1.39844508
44RNF2_27304074_Chip-Seq_ESCs_Mouse1.38734933
45GATA2_21666600_ChIP-Seq_HMVEC_Human1.37899528
46SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.37094872
47ISL1_27105846_Chip-Seq_CPCs_Mouse1.36116662
48PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.35545681
49SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.35533455
50NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.34862506
51TP53_22127205_ChIP-Seq_IMR90_Human1.31656285
52SOX9_24532713_ChIP-Seq_HFSC_Mouse1.31106372
53MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.30621369
54* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.30574233
55SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.28436863
56KDM2B_26808549_Chip-Seq_K562_Human1.27960079
57TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.27888390
58EZH2_27304074_Chip-Seq_ESCs_Mouse1.27232474
59MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.26782643
60* LXR_22292898_ChIP-Seq_THP-1_Human1.25952977
61RACK7_27058665_Chip-Seq_MCF-7_Human1.25931666
62TP53_23651856_ChIP-Seq_MEFs_Mouse1.24146051
63DROSHA_22980978_ChIP-Seq_HELA_Human1.23451557
64KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.23420898
65SMC3_22415368_ChIP-Seq_MEFs_Mouse1.23169118
66ZFP281_27345836_Chip-Seq_ESCs_Mouse1.22537458
67ESR1_20079471_ChIP-ChIP_T-47D_Human1.21792651
68JARID2_20064375_ChIP-Seq_MESCs_Mouse1.20231674
69ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.19589022
70UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.19045974
71CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.19009893
72* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.17643596
73SMAD_19615063_ChIP-ChIP_OVARY_Human1.17076878
74UBF1/2_26484160_Chip-Seq_HMECs_Human1.16765590
75RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.16440560
76FOXO3_23340844_ChIP-Seq_DLD1_Human1.15373568
77HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.15094797
78KDM2B_26808549_Chip-Seq_DND41_Human1.14794776
79JARID2_20075857_ChIP-Seq_MESCs_Mouse1.13561139
80ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.13343501
81BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.13280423
82SUZ12_27294783_Chip-Seq_ESCs_Mouse1.13235931
83EZH2_27294783_Chip-Seq_ESCs_Mouse1.13168544
84SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.12752765
85SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.12752765
86EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.12197899
87* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.11591909
88* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.11210429
89TP53_18474530_ChIP-ChIP_U2OS_Human1.10233139
90ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.09951676
91TP53_16413492_ChIP-PET_HCT116_Human1.08869111
92NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.07283170
93NFIB_24661679_ChIP-Seq_LUNG_Mouse1.07141758
94ATF3_27146783_Chip-Seq_COLON_Human1.06890648
95* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.05651367
96PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.05482938
97SA1_22415368_ChIP-Seq_MEFs_Mouse1.04703846
98* THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.03956995
99SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.03632630
100* FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.03468319
101KDM2B_26808549_Chip-Seq_JURKAT_Human1.02826911
102SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.02011901
103JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.01897155
104TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.01355379
105ZNF217_24962896_ChIP-Seq_MCF-7_Human0.99084950
106RING1B_27294783_Chip-Seq_ESCs_Mouse0.98940667
107SALL4_18804426_ChIP-ChIP_XEN_Mouse0.96909008
108KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.96902453
109TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.96505874
110SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.94632687
111NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.93978176
112CTNNB1_20460455_ChIP-Seq_HCT116_Human0.91124143
113TET1_21490601_ChIP-Seq_MESCs_Mouse0.90886944
114RAD21_21589869_ChIP-Seq_MESCs_Mouse0.89823078
115PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.89789700
116PIAS1_25552417_ChIP-Seq_VCAP_Human0.87118160
117ERG_21242973_ChIP-ChIP_JURKAT_Human0.87026852
118ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.86441359
119P63_26484246_Chip-Seq_KERATINOCYTES_Human0.85904942
120* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.84714299
121RING1B_27294783_Chip-Seq_NPCs_Mouse0.84178363
122PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.83809196

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen7.65792681
2MP0005503_abnormal_tendon_morphology4.63238572
3MP0005275_abnormal_skin_tensile4.51426476
4MP0003705_abnormal_hypodermis_morpholog3.93395189
5* MP0003279_aneurysm3.72167362
6MP0004272_abnormal_basement_membrane3.56067321
7MP0001958_emphysema3.31759808
8MP0005623_abnormal_meninges_morphology2.89839574
9MP0006054_spinal_hemorrhage2.61412130
10MP0009384_cardiac_valve_regurgitation2.35090818
11MP0010368_abnormal_lymphatic_system2.27465205
12MP0000751_myopathy2.19780893
13MP0005257_abnormal_intraocular_pressure2.09656413
14MP0004084_abnormal_cardiac_muscle1.98148898
15MP0003566_abnormal_cell_adhesion1.97638754
16* MP0005508_abnormal_skeleton_morphology1.88833453
17MP0010030_abnormal_orbit_morphology1.88647364
18MP0002837_dystrophic_cardiac_calcinosis1.86349638
19MP0002295_abnormal_pulmonary_circulatio1.82391580
20MP0002108_abnormal_muscle_morphology1.77507857
21MP0000013_abnormal_adipose_tissue1.70227298
22* MP0000767_abnormal_smooth_muscle1.64099751
23MP0003385_abnormal_body_wall1.63805015
24MP0001879_abnormal_lymphatic_vessel1.63461740
25MP0002060_abnormal_skin_morphology1.60210224
26MP0009250_abnormal_appendicular_skeleto1.56130007
27* MP0005023_abnormal_wound_healing1.45350902
28* MP0003091_abnormal_cell_migration1.41744946
29MP0000750_abnormal_muscle_regeneration1.36914798
30MP0000733_abnormal_muscle_development1.33494702
31MP0010352_gastrointestinal_tract_polyps1.32225342
32MP0002896_abnormal_bone_mineralization1.30481809
33MP0008775_abnormal_heart_ventricle1.29397015
34MP0006138_congestive_heart_failure1.27328273
35MP0009780_abnormal_chondrocyte_physiolo1.25548849
36MP0001542_abnormal_bone_strength1.24552295
37MP0000534_abnormal_ureter_morphology1.24126185
38MP0003283_abnormal_digestive_organ1.23651067
39MP0000428_abnormal_craniofacial_morphol1.22973872
40MP0004087_abnormal_muscle_fiber1.22324823
41MP0005330_cardiomyopathy1.22118849
42MP0009278_abnormal_bone_marrow1.22055953
43MP0000003_abnormal_adipose_tissue1.19570613
44MP0000749_muscle_degeneration1.18867630
45* MP0002128_abnormal_blood_circulation1.17628636
46MP0003950_abnormal_plasma_membrane1.14838705
47MP0002932_abnormal_joint_morphology1.14225129
48MP0001243_abnormal_dermal_layer1.14179103
49MP0004036_abnormal_muscle_relaxation1.13806016
50MP0005595_abnormal_vascular_smooth1.13271040
51MP0004134_abnormal_chest_morphology1.11907127
52MP0003942_abnormal_urinary_system1.11785896
53MP0004215_abnormal_myocardial_fiber1.11302348
54MP0003828_pulmonary_edema1.10626507
55MP0010630_abnormal_cardiac_muscle1.09848289
56MP0001299_abnormal_eye_distance/1.09339115
57MP0002282_abnormal_trachea_morphology1.08063020
58MP0003045_fibrosis1.06344553
59MP0000163_abnormal_cartilage_morphology1.05209966
60MP0005620_abnormal_muscle_contractility1.02967443
61* MP0001614_abnormal_blood_vessel1.02845190
62MP0001544_abnormal_cardiovascular_syste1.01848934
63MP0005385_cardiovascular_system_phenoty1.01848934
64MP0002972_abnormal_cardiac_muscle1.00218855
65MP0000049_abnormal_middle_ear0.99743510
66MP0005171_absent_coat_pigmentation0.99569175
67MP0003115_abnormal_respiratory_system0.97649590
68MP0002249_abnormal_larynx_morphology0.97090161
69MP0003941_abnormal_skin_development0.96596119
70MP0002115_abnormal_skeleton_extremities0.95927285
71* MP0002925_abnormal_cardiovascular_devel0.95652831
72MP0000759_abnormal_skeletal_muscle0.95527192
73MP0002254_reproductive_system_inflammat0.93806766
74MP0000462_abnormal_digestive_system0.92886221
75MP0009053_abnormal_anal_canal0.92700785
76* MP0005390_skeleton_phenotype0.92110993
77MP0003935_abnormal_craniofacial_develop0.91703292
78MP0005375_adipose_tissue_phenotype0.89835135
79MP0001849_ear_inflammation0.89124732
80MP0005369_muscle_phenotype0.86975143
81MP0004883_abnormal_blood_vessel0.86751401
82MP0000343_altered_response_to0.86003352
83MP0004858_abnormal_nervous_system0.85431274
84MP0010386_abnormal_urinary_bladder0.84180995
85MP0002113_abnormal_skeleton_development0.81782223
86MP0002168_other_aberrant_phenotype0.81610096
87* MP0000266_abnormal_heart_morphology0.79901443
88MP0004233_abnormal_muscle_weight0.79511519
89MP0002933_joint_inflammation0.79500940
90MP0002998_abnormal_bone_remodeling0.77978714
91MP0003755_abnormal_palate_morphology0.77551349
92MP0003300_gastrointestinal_ulcer0.76381160
93MP0000762_abnormal_tongue_morphology0.75424164
94MP0004185_abnormal_adipocyte_glucose0.74988387
95MP0003137_abnormal_impulse_conducting0.74021549
96MP0005409_darkened_coat_color0.72067996
97MP0001175_abnormal_lung_morphology0.71658775
98MP0002269_muscular_atrophy0.71399848
99MP0005076_abnormal_cell_differentiation0.71280179
100MP0001348_abnormal_lacrimal_gland0.70765636
101MP0004130_abnormal_muscle_cell0.70493109
102MP0002089_abnormal_postnatal_growth/wei0.70361861
103MP0003448_altered_tumor_morphology0.70143658
104MP0005666_abnormal_adipose_tissue0.69887578
105MP0005388_respiratory_system_phenotype0.69652399
106MP0002133_abnormal_respiratory_system0.69652399
107MP0001915_intracranial_hemorrhage0.69488598
108MP0002127_abnormal_cardiovascular_syste0.69189657
109MP0005670_abnormal_white_adipose0.68976100
110MP0000432_abnormal_head_morphology0.68828069
111MP0002116_abnormal_craniofacial_bone0.67842401
112* MP0005164_abnormal_response_to0.66350511
113MP0000249_abnormal_blood_vessel0.65072276
114MP0003795_abnormal_bone_structure0.63979772
115MP0001533_abnormal_skeleton_physiology0.62505676
116MP0000747_muscle_weakness0.59387251
117MP0001661_extended_life_span0.58442397
118MP0004510_myositis0.55742634
119MP0009840_abnormal_foam_cell0.55520121

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)8.19152742
2Premature rupture of membranes (HP:0001788)7.49182963
3Ankle contracture (HP:0006466)5.51187631
4Aortic dissection (HP:0002647)5.32210890
5Broad metatarsal (HP:0001783)5.19694141
6Aortic aneurysm (HP:0004942)4.58405385
7Shallow orbits (HP:0000586)4.52098968
8Cerebral aneurysm (HP:0004944)4.47004834
9Peritonitis (HP:0002586)4.40853743
10Soft skin (HP:0000977)4.19780170
11Bladder diverticulum (HP:0000015)4.12294735
12Type 1 muscle fiber predominance (HP:0003803)3.94284871
13Atrophic scars (HP:0001075)3.90892480
14Abnormality of dentin (HP:0010299)3.89908970
15Neonatal short-limb short stature (HP:0008921)3.74455616
16Dilatation of the ascending aorta (HP:0005111)3.73587643
17Increased connective tissue (HP:0009025)3.68188553
18Follicular hyperkeratosis (HP:0007502)3.53890669
19Fragile skin (HP:0001030)3.51919671
20Mitral valve prolapse (HP:0001634)3.45571376
21Increased variability in muscle fiber diameter (HP:0003557)3.29604651
22Genu recurvatum (HP:0002816)3.23597224
23Spinal rigidity (HP:0003306)3.19433633
24Cervical subluxation (HP:0003308)3.18408721
25Biconcave vertebral bodies (HP:0004586)3.17614949
26Blue sclerae (HP:0000592)3.06968099
27Wormian bones (HP:0002645)3.03321298
28Bowel diverticulosis (HP:0005222)2.96419697
29Wrist flexion contracture (HP:0001239)2.93647983
30Aneurysm (HP:0002617)2.90212073
31Slender build (HP:0001533)2.87822579
32Abnormality of skeletal muscle fiber size (HP:0012084)2.85668267
33Mildly elevated creatine phosphokinase (HP:0008180)2.79404140
34Vascular tortuosity (HP:0004948)2.79184965
35Vertebral compression fractures (HP:0002953)2.70810439
36Infantile muscular hypotonia (HP:0008947)2.68570858
37Hyperextensible skin (HP:0000974)2.65590971
38Short 4th metacarpal (HP:0010044)2.62150385
39Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.62150385
40Short hallux (HP:0010109)2.54128068
41Wide anterior fontanel (HP:0000260)2.53658508
42Aortic valve stenosis (HP:0001650)2.53268173
43Hypoventilation (HP:0002791)2.48344056
44Abnormal delivery (HP:0001787)2.42920426
45Camptodactyly of toe (HP:0001836)2.42732351
46Nonimmune hydrops fetalis (HP:0001790)2.42057732
47Joint stiffness (HP:0001387)2.41102956
48Venous insufficiency (HP:0005293)2.41004949
49Ectopia lentis (HP:0001083)2.40167312
50Mitral regurgitation (HP:0001653)2.40155994
51Joint laxity (HP:0001388)2.37318604
52Aplasia/Hypoplasia of the hallux (HP:0008362)2.36237993
53Deviation of the hallux (HP:0010051)2.35409162
54Venous abnormality (HP:0002624)2.34290231
55Abnormality of the 4th metacarpal (HP:0010012)2.33043757
56Mesomelia (HP:0003027)2.30497775
57Elbow flexion contracture (HP:0002987)2.27642421
58Hallux valgus (HP:0001822)2.27032299
59Abnormality of the acetabulum (HP:0003170)2.21839870
60Lymphangioma (HP:0100764)2.21080162
61Abnormality of the peritoneum (HP:0002585)2.18975261
62Mesangial abnormality (HP:0001966)2.18786735
63Ulnar bowing (HP:0003031)2.17633956
64Muscle fiber splitting (HP:0003555)2.17241206
65Arterial tortuosity (HP:0005116)2.16997551
66Mitral stenosis (HP:0001718)2.15872146
67Overgrowth (HP:0001548)2.15172433
68Aortic regurgitation (HP:0001659)2.14017203
69Broad ribs (HP:0000885)2.10331516
70Thin bony cortex (HP:0002753)2.07719840
71Buphthalmos (HP:0000557)2.06196422
72Breech presentation (HP:0001623)2.04284629
73Round ear (HP:0100830)2.04035277
74Striae distensae (HP:0001065)1.97138706
75Protruding ear (HP:0000411)1.93518681
76Limited hip movement (HP:0008800)1.93287690
77Tibial bowing (HP:0002982)1.92322560
78Osteolytic defects of the hand bones (HP:0009699)1.92137453
79Osteolytic defects of the phalanges of the hand (HP:0009771)1.92137453
80Generalized amyotrophy (HP:0003700)1.90720326
81Ventricular tachycardia (HP:0004756)1.90145330
82Ulnar deviation of the wrist (HP:0003049)1.89493495
83Right ventricular cardiomyopathy (HP:0011663)1.89092326
84Hypoplastic ischia (HP:0003175)1.88943214
85Knee flexion contracture (HP:0006380)1.87957665
86Inguinal hernia (HP:0000023)1.87711717
87Lipoatrophy (HP:0100578)1.87447904
88Osteoarthritis (HP:0002758)1.86609075
89Flexion contracture of toe (HP:0005830)1.85739566
90Joint contractures involving the joints of the feet (HP:0100492)1.85739566
91Morphological abnormality of the middle ear (HP:0008609)1.85658580
92Spondylolisthesis (HP:0003302)1.85638762
93Turricephaly (HP:0000262)1.84121699
94Broad long bones (HP:0005622)1.83421712
95Hypoplasia of the iris (HP:0007676)1.83204132
96Disproportionate tall stature (HP:0001519)1.82795313
97Obstructive sleep apnea (HP:0002870)1.82499030
98Hip contracture (HP:0003273)1.81855035
99Limb-girdle muscle weakness (HP:0003325)1.81469681
100Persistence of primary teeth (HP:0006335)1.81342698
101Femoral bowing (HP:0002980)1.80580176
102Pulmonary artery stenosis (HP:0004415)1.80574315
103Scapular winging (HP:0003691)1.79780680
104Delayed cranial suture closure (HP:0000270)1.79272182
105Radial bowing (HP:0002986)1.78966770
106Ovoid vertebral bodies (HP:0003300)1.77699603
107Difficulty climbing stairs (HP:0003551)1.77555035
108Emphysema (HP:0002097)1.77170225
109Bell-shaped thorax (HP:0001591)1.76219067
110Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.76058064
111Hyporeflexia of lower limbs (HP:0002600)1.75395892
112Long toe (HP:0010511)1.75376938
113Abnormality of complement system (HP:0005339)1.75192387
114Mild short stature (HP:0003502)1.74497362
115Coronal craniosynostosis (HP:0004440)1.73634081
116Bowed forearm bones (HP:0003956)1.73391071
117Absent frontal sinuses (HP:0002688)1.71843933
118Delayed closure of the anterior fontanelle (HP:0001476)1.71207511
119Flat cornea (HP:0007720)1.71172515
120Natal tooth (HP:0000695)1.70873311
121Abnormality of skull ossification (HP:0002703)1.68838254
122Abnormality of the anterior chamber (HP:0000593)1.68697557
123Premature skin wrinkling (HP:0100678)1.66264025
124Renal duplication (HP:0000075)1.64874069
125Redundant skin (HP:0001582)1.63942469

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN5.11744163
2TRIB34.40572596
3DDR24.05940995
4MYLK3.63533298
5ERN13.22629051
6PKN22.80252710
7EPHB22.59503712
8RIPK12.53669080
9TIE12.49133075
10* PDGFRA2.46262886
11TGFBR22.46239627
12SIK12.45471974
13LATS22.31470955
14DMPK2.24406489
15LATS12.23048294
16PAK22.11392015
17EPHA31.66840847
18AKT31.63102992
19MAP3K61.54808696
20PAK31.44162855
21PAK41.41092065
22PTK61.40714201
23KDR1.38859638
24LMTK21.37414577
25BMX1.32406582
26STK381.31361082
27ROCK11.29494842
28EEF2K1.28773229
29LRRK21.25396235
30PTK2B1.24901030
31PTK21.19456046
32CAMK1D1.17510992
33TRPM71.17324166
34MAP3K101.16859127
35ILK1.16563454
36FER1.14398908
37LIMK11.13908683
38CDC42BPA1.07683006
39CDK121.06127098
40PIK3CA1.03047335
41FGFR21.01292690
42MTOR0.97497344
43EPHB10.95382453
44TGFBR10.94471088
45NTRK10.92416003
46FGFR10.89784350
47FLT30.88642530
48PRKD10.88517033
49CAMK1G0.88328548
50GRK50.86674140
51PRPF4B0.86207381
52MET0.83555920
53FGFR30.82833906
54MAP3K30.82235407
55DAPK30.78736263
56STK30.78388979
57PRKCH0.76356232
58GSK3A0.75166264
59PHKG10.74993375
60PHKG20.74993375
61NEK90.74312606
62FGFR40.71440140
63RPS6KA40.71174756
64RET0.70495572
65MAPK40.70140925
66MAP3K70.69966763
67FRK0.68154163
68ROCK20.65931431
69PRKD20.65421255
70PRKG20.65277523
71* PDGFRB0.65147901
72ICK0.63474234
73PDK40.62796164
74PDK30.62796164
75MAPK150.60660825
76TYK20.60082165
77HIPK20.59601561
78MAP2K10.58511168
79CAMK2G0.56326953
80PIK3CG0.54718956
81MOS0.53249531
82NLK0.52997177
83PRKD30.52333322
84JAK10.50409241
85MARK20.50275408
86CAMK40.50181882
87MARK10.49562853
88ZAP700.48622034
89ERBB40.48088022
90DYRK1B0.47012080
91MAP2K30.46418041
92STK38L0.45815729
93WNK10.45592651
94TAOK10.44922421
95SRC0.44902622
96PAK60.44771053
97MAPK70.43785345
98PAK10.42788066
99GRK70.42584823
100PDK20.41751033
101OBSCN0.41209828
102MAP3K130.41055533
103PDPK10.40974253
104JAK30.39692611
105* ADRBK10.39506467
106CLK10.39130666
107MAPK120.39069590
108KSR20.37961666
109* INSR0.37168586
110MELK0.36845725
111IGF1R0.32507185
112CDK60.31588522
113CSF1R0.29851048
114MAPKAPK30.29710828
115PRKAA20.29138341
116RPS6KL10.28229673
117RPS6KC10.28229673
118RPS6KA20.26817312
119STK100.26762924
120NEK10.26607706
121RPS6KA60.25824068
122CAMKK10.25678259
123TYRO30.24724455
124MAPK10.24262979
125TESK10.23153377
126CAMK10.22655370
127AKT20.22268786

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.71930319
2* Focal adhesion_Homo sapiens_hsa045103.39180769
3Dilated cardiomyopathy_Homo sapiens_hsa054142.92269968
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.84136513
5Protein digestion and absorption_Homo sapiens_hsa049742.83725100
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.64366374
7Amoebiasis_Homo sapiens_hsa051462.37421857
8AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.33743326
9Proteoglycans in cancer_Homo sapiens_hsa052052.21324135
10Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.03894695
11Adherens junction_Homo sapiens_hsa045202.00704030
12Small cell lung cancer_Homo sapiens_hsa052221.90037508
13Malaria_Homo sapiens_hsa051441.73084920
14Basal cell carcinoma_Homo sapiens_hsa052171.67526781
15* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.65632409
16Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.59834726
17Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.54220740
18TGF-beta signaling pathway_Homo sapiens_hsa043501.54186868
19Bladder cancer_Homo sapiens_hsa052191.47561710
20Hippo signaling pathway_Homo sapiens_hsa043901.46769246
21* MicroRNAs in cancer_Homo sapiens_hsa052061.43321379
22Leukocyte transendothelial migration_Homo sapiens_hsa046701.41424991
23Notch signaling pathway_Homo sapiens_hsa043301.36828706
24Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.35009997
25* Regulation of actin cytoskeleton_Homo sapiens_hsa048101.33251366
26Platelet activation_Homo sapiens_hsa046111.32805686
27Chronic myeloid leukemia_Homo sapiens_hsa052201.31849252
28Vascular smooth muscle contraction_Homo sapiens_hsa042701.28939913
29Viral myocarditis_Homo sapiens_hsa054161.28629964
30Prion diseases_Homo sapiens_hsa050201.26552565
31Hedgehog signaling pathway_Homo sapiens_hsa043401.26392021
32Other glycan degradation_Homo sapiens_hsa005111.23965748
33Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.17621589
34* Pathways in cancer_Homo sapiens_hsa052001.17392711
35* Rap1 signaling pathway_Homo sapiens_hsa040151.12440539
36Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.12060853
37Dorso-ventral axis formation_Homo sapiens_hsa043201.11230757
38cGMP-PKG signaling pathway_Homo sapiens_hsa040221.08046613
39Adipocytokine signaling pathway_Homo sapiens_hsa049201.04818718
40Tight junction_Homo sapiens_hsa045301.03202291
41Insulin resistance_Homo sapiens_hsa049311.03098294
422-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.99843875
43Axon guidance_Homo sapiens_hsa043600.95647164
44* Melanoma_Homo sapiens_hsa052180.93318507
45Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.92074446
46Pancreatic cancer_Homo sapiens_hsa052120.88459895
47Thyroid hormone signaling pathway_Homo sapiens_hsa049190.88426474
48PPAR signaling pathway_Homo sapiens_hsa033200.87844939
49Toxoplasmosis_Homo sapiens_hsa051450.86408356
50Fatty acid degradation_Homo sapiens_hsa000710.82680115
51Pertussis_Homo sapiens_hsa051330.82440884
52Cyanoamino acid metabolism_Homo sapiens_hsa004600.80898304
53Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.80894363
54Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.80681761
55Wnt signaling pathway_Homo sapiens_hsa043100.78094152
56HIF-1 signaling pathway_Homo sapiens_hsa040660.78088131
57Lysine degradation_Homo sapiens_hsa003100.77419672
58Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.74686804
59Renal cell carcinoma_Homo sapiens_hsa052110.74210041
60AMPK signaling pathway_Homo sapiens_hsa041520.73481456
61Melanogenesis_Homo sapiens_hsa049160.72780393
62Ovarian steroidogenesis_Homo sapiens_hsa049130.72593187
63mTOR signaling pathway_Homo sapiens_hsa041500.72171350
64Fatty acid metabolism_Homo sapiens_hsa012120.71867671
65* Central carbon metabolism in cancer_Homo sapiens_hsa052300.71395828
66* HTLV-I infection_Homo sapiens_hsa051660.70452893
67Estrogen signaling pathway_Homo sapiens_hsa049150.70067247
68Longevity regulating pathway - mammal_Homo sapiens_hsa042110.68942301
69* Glioma_Homo sapiens_hsa052140.67082022
70Renin secretion_Homo sapiens_hsa049240.66327264
71Cocaine addiction_Homo sapiens_hsa050300.66206187
72TNF signaling pathway_Homo sapiens_hsa046680.65052486
73Renin-angiotensin system_Homo sapiens_hsa046140.61850416
74Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.61037609
75Gastric acid secretion_Homo sapiens_hsa049710.60705929
76Insulin signaling pathway_Homo sapiens_hsa049100.60477747
77* Phospholipase D signaling pathway_Homo sapiens_hsa040720.60173188
78* Prostate cancer_Homo sapiens_hsa052150.58684819
79Glycosaminoglycan degradation_Homo sapiens_hsa005310.58157635
80Lysosome_Homo sapiens_hsa041420.56419481
81Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.56405698
82* Gap junction_Homo sapiens_hsa045400.55896642
83Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.55332236
84Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.55288524
85Cardiac muscle contraction_Homo sapiens_hsa042600.55112788
86* Ras signaling pathway_Homo sapiens_hsa040140.55066287
87VEGF signaling pathway_Homo sapiens_hsa043700.53729407
88cAMP signaling pathway_Homo sapiens_hsa040240.52950581
89Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.52891562
90Oxytocin signaling pathway_Homo sapiens_hsa049210.52493762
91Colorectal cancer_Homo sapiens_hsa052100.52380513
92GnRH signaling pathway_Homo sapiens_hsa049120.51483763
93Endometrial cancer_Homo sapiens_hsa052130.51076005
94* Calcium signaling pathway_Homo sapiens_hsa040200.50766891
95Neurotrophin signaling pathway_Homo sapiens_hsa047220.48770627
96* MAPK signaling pathway_Homo sapiens_hsa040100.46286930
97Glucagon signaling pathway_Homo sapiens_hsa049220.45174505
98Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.45131681
99Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.44957882
100Insulin secretion_Homo sapiens_hsa049110.44951514
101Thyroid hormone synthesis_Homo sapiens_hsa049180.43199183
102Phagosome_Homo sapiens_hsa041450.42757666
103Salivary secretion_Homo sapiens_hsa049700.42195372
104Circadian rhythm_Homo sapiens_hsa047100.41032392
105Aldosterone synthesis and secretion_Homo sapiens_hsa049250.40753168
106Endocytosis_Homo sapiens_hsa041440.40479838
107Pancreatic secretion_Homo sapiens_hsa049720.40406405
108Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.40372618
109Complement and coagulation cascades_Homo sapiens_hsa046100.40159918
110Staphylococcus aureus infection_Homo sapiens_hsa051500.39591707
111Shigellosis_Homo sapiens_hsa051310.38816928
112Cholinergic synapse_Homo sapiens_hsa047250.38812373
113FoxO signaling pathway_Homo sapiens_hsa040680.37968730
114Prolactin signaling pathway_Homo sapiens_hsa049170.37719227
115Acute myeloid leukemia_Homo sapiens_hsa052210.36968357
116p53 signaling pathway_Homo sapiens_hsa041150.36840538
117Bile secretion_Homo sapiens_hsa049760.36459305
118Salmonella infection_Homo sapiens_hsa051320.34989143
119Hepatitis B_Homo sapiens_hsa051610.33456994
120Propanoate metabolism_Homo sapiens_hsa006400.32658437

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