BMPR2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)3.40870464
2vocalization behavior (GO:0071625)3.32041951
3layer formation in cerebral cortex (GO:0021819)3.29638801
4locomotory exploration behavior (GO:0035641)3.24483050
5regulation of short-term neuronal synaptic plasticity (GO:0048172)3.20606353
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.00714587
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.98758965
8lymph vessel development (GO:0001945)2.96600642
9axonal fasciculation (GO:0007413)2.91788900
10dendrite morphogenesis (GO:0048813)2.89630097
11neuron cell-cell adhesion (GO:0007158)2.88770448
12establishment of nucleus localization (GO:0040023)2.82187330
13glutamate secretion (GO:0014047)2.81110238
14neuron recognition (GO:0008038)2.79910154
15positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.77463900
16dendritic spine morphogenesis (GO:0060997)2.74143294
17synaptic vesicle docking involved in exocytosis (GO:0016081)2.72703224
18regulation of glutamate receptor signaling pathway (GO:1900449)2.71256885
19regulation of synaptic vesicle exocytosis (GO:2000300)2.67553515
20exploration behavior (GO:0035640)2.66298140
21synaptic vesicle exocytosis (GO:0016079)2.65821254
22axon extension involved in axon guidance (GO:0048846)2.65598641
23neuron projection extension involved in neuron projection guidance (GO:1902284)2.65598641
24proline transport (GO:0015824)2.61944088
25axon extension (GO:0048675)2.59125209
26cell adhesion mediated by integrin (GO:0033627)2.57566275
27innervation (GO:0060384)2.56868603
28protein localization to synapse (GO:0035418)2.55548861
29regulation of dendritic spine morphogenesis (GO:0061001)2.54778645
30hemidesmosome assembly (GO:0031581)2.53470047
31regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.51625921
32regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.48581174
33presynaptic membrane assembly (GO:0097105)2.47171937
34regulation of long-term neuronal synaptic plasticity (GO:0048169)2.44348111
35positive regulation of cardiac muscle cell differentiation (GO:2000727)2.44294772
36positive regulation of muscle hypertrophy (GO:0014742)2.43292481
37positive regulation of cardiac muscle hypertrophy (GO:0010613)2.43292481
38activation of protein kinase A activity (GO:0034199)2.42414942
39cerebellar Purkinje cell differentiation (GO:0021702)2.42371560
40negative regulation of axon extension involved in axon guidance (GO:0048843)2.42234003
41cellular potassium ion homeostasis (GO:0030007)2.41941297
42regulation of synapse structural plasticity (GO:0051823)2.41815357
43* regulation of axon extension involved in axon guidance (GO:0048841)2.40680287
44ionotropic glutamate receptor signaling pathway (GO:0035235)2.40228991
45membrane assembly (GO:0071709)2.39381634
46membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.37978581
47regulation of transforming growth factor beta2 production (GO:0032909)2.35585197
48cell migration in hindbrain (GO:0021535)2.34798051
49smooth muscle tissue development (GO:0048745)2.34467398
50regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.34052199
51substrate-dependent cell migration (GO:0006929)2.32466472
52peptidyl-tyrosine autophosphorylation (GO:0038083)2.31108362
53regulation of neuronal synaptic plasticity (GO:0048168)2.30461008
54regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.30285701
55chondrocyte proliferation (GO:0035988)2.29965468
56positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.29396073
57vascular endothelial growth factor signaling pathway (GO:0038084)2.29231084
58glutamate receptor signaling pathway (GO:0007215)2.27823251
59negative chemotaxis (GO:0050919)2.27771271
60regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.27579737
61regulation of dendritic spine development (GO:0060998)2.27185755
62vesicle transport along microtubule (GO:0047496)2.27098279
63positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.27074026
64collagen fibril organization (GO:0030199)2.26386038
65postsynaptic membrane organization (GO:0001941)2.25744635
66cellular sodium ion homeostasis (GO:0006883)2.24897634
67* lymphangiogenesis (GO:0001946)2.24723500
68* regulation of axon guidance (GO:1902667)2.24227012
69cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.23498392
70neuron projection extension (GO:1990138)2.23134087
71regulation of clathrin-mediated endocytosis (GO:2000369)2.22631274
72regulation of synaptic vesicle transport (GO:1902803)2.22169545
73myelination in peripheral nervous system (GO:0022011)2.22031571
74peripheral nervous system axon ensheathment (GO:0032292)2.22031571
75neuron remodeling (GO:0016322)2.21305960
76negative regulation of cytosolic calcium ion concentration (GO:0051481)2.20559885
77central nervous system projection neuron axonogenesis (GO:0021952)2.20466431
78apical protein localization (GO:0045176)2.20436406
79desmosome organization (GO:0002934)2.20163751
80neuronal action potential propagation (GO:0019227)2.20046780
81sequestering of extracellular ligand from receptor (GO:0035581)2.19900836
82neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.19173028
83protein targeting to Golgi (GO:0000042)2.18889566
84neurotransmitter-gated ion channel clustering (GO:0072578)2.18738728
85plasma membrane repair (GO:0001778)2.18474529
86negative regulation of catenin import into nucleus (GO:0035414)2.18265397
87neurotransmitter secretion (GO:0007269)2.18051304
88negative regulation of axon guidance (GO:1902668)2.18019473
89chemical homeostasis within a tissue (GO:0048875)2.17398323
90anatomical structure arrangement (GO:0048532)2.17180077
91hippo signaling (GO:0035329)2.16762892
92regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.15490872
93regulation of excitatory postsynaptic membrane potential (GO:0060079)2.14598085
94synapse assembly (GO:0007416)2.14416556
95retrograde transport, vesicle recycling within Golgi (GO:0000301)2.14190261
96cell migration involved in heart development (GO:0060973)2.13251229
97insulin-like growth factor receptor signaling pathway (GO:0048009)2.13047622
98cell communication by electrical coupling (GO:0010644)2.11778562
99embryonic foregut morphogenesis (GO:0048617)2.11286803
100regulation of postsynaptic membrane potential (GO:0060078)2.11192162
101negative regulation of vascular permeability (GO:0043116)2.11117043
102synapse organization (GO:0050808)2.09866548
103sodium ion export (GO:0071436)2.09669666
104nerve growth factor signaling pathway (GO:0038180)2.09610832
105cerebral cortex radially oriented cell migration (GO:0021799)2.09482277
106cell communication involved in cardiac conduction (GO:0086065)2.08540521
107cardiac myofibril assembly (GO:0055003)2.08493423
108presynaptic membrane organization (GO:0097090)2.08381928
109regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.08265103
110regulation of synaptic transmission, glutamatergic (GO:0051966)2.08187483
111phospholipid translocation (GO:0045332)2.08157061
112lipid translocation (GO:0034204)2.08157061
113cochlea development (GO:0090102)2.07763434
114embryonic retina morphogenesis in camera-type eye (GO:0060059)2.07671533
115negative regulation of protein localization to cell surface (GO:2000009)2.07511173
116protein targeting to plasma membrane (GO:0072661)2.07505535
117clathrin coat assembly (GO:0048268)2.06785091
118blood vessel maturation (GO:0001955)2.06401388
119retina vasculature morphogenesis in camera-type eye (GO:0061299)2.06314768
120metanephric mesenchyme development (GO:0072075)2.06076993
121dendritic spine organization (GO:0097061)2.05930194
122suckling behavior (GO:0001967)2.05683960
123regulation of Rac protein signal transduction (GO:0035020)2.04947840
124negative regulation of dendrite morphogenesis (GO:0050774)2.03961098
125positive regulation of fibroblast migration (GO:0010763)2.03891660
126nucleus localization (GO:0051647)2.03757675
127negative regulation of hormone biosynthetic process (GO:0032353)2.03751573
128semaphorin-plexin signaling pathway (GO:0071526)2.03300777
129positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.03291834
130cell migration involved in sprouting angiogenesis (GO:0002042)2.03269606
131negative regulation of fatty acid transport (GO:2000192)2.02237662
132cytoskeletal anchoring at plasma membrane (GO:0007016)2.02192244
133long-term synaptic potentiation (GO:0060291)2.01924353
134ganglion development (GO:0061548)2.01900400
135wound healing, spreading of epidermal cells (GO:0035313)2.00060135
136regulation of cardiac muscle cell differentiation (GO:2000725)1.99646565
137kidney mesenchyme development (GO:0072074)1.99357715
138regulation of cardioblast differentiation (GO:0051890)1.98482141
139extracellular matrix assembly (GO:0085029)1.97897908
140peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)1.97886176
141pericardium development (GO:0060039)1.97830951
142dichotomous subdivision of an epithelial terminal unit (GO:0060600)1.97523784
143developmental cell growth (GO:0048588)1.97346688
144central nervous system neuron axonogenesis (GO:0021955)1.97294207
145regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)1.96687662
146cell-substrate junction assembly (GO:0007044)1.96170799
147skin morphogenesis (GO:0043589)1.94955616
148endocardial cushion development (GO:0003197)1.94881076
149endodermal cell differentiation (GO:0035987)1.94673928
150negative regulation of keratinocyte proliferation (GO:0010839)1.93550582
151myoblast fusion (GO:0007520)1.93237423
152regulation of cardiac muscle hypertrophy (GO:0010611)1.93169561

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human3.42179914
2GBX2_23144817_ChIP-Seq_PC3_Human3.06663045
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.46800374
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.38156094
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.33278104
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.24493087
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.24493087
8SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.17248719
9SMAD_19615063_ChIP-ChIP_OVARY_Human2.15695755
10SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.14677562
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.14602390
12GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.10941199
13EED_16625203_ChIP-ChIP_MESCs_Mouse2.08780064
14CDX2_19796622_ChIP-Seq_MESCs_Mouse2.04790420
15* CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.04333421
16AR_21572438_ChIP-Seq_LNCaP_Human2.03967606
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.01816021
18ZNF217_24962896_ChIP-Seq_MCF-7_Human1.96562629
19* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.94326193
20JARID2_20075857_ChIP-Seq_MESCs_Mouse1.93033374
21TRIM28_21343339_ChIP-Seq_HEK293_Human1.87178962
22PIAS1_25552417_ChIP-Seq_VCAP_Human1.77589963
23SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.76578311
24RNF2_27304074_Chip-Seq_ESCs_Mouse1.75945447
25PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.75385566
26TAF15_26573619_Chip-Seq_HEK293_Human1.69283559
27SMAD4_21799915_ChIP-Seq_A2780_Human1.67978106
28ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.62170804
29* AHR_22903824_ChIP-Seq_MCF-7_Human1.59389123
30* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.58084912
31TP53_16413492_ChIP-PET_HCT116_Human1.55162557
32DROSHA_22980978_ChIP-Seq_HELA_Human1.54948238
33EP300_21415370_ChIP-Seq_HL-1_Mouse1.54431891
34P300_19829295_ChIP-Seq_ESCs_Human1.51895859
35EZH2_27294783_Chip-Seq_ESCs_Mouse1.51726431
36* ARNT_22903824_ChIP-Seq_MCF-7_Human1.51360393
37* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.50947101
38PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.49697134
39SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.49536781
40RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.48866482
41CTBP2_25329375_ChIP-Seq_LNCAP_Human1.48690955
42ZFP57_27257070_Chip-Seq_ESCs_Mouse1.47848333
43TP53_18474530_ChIP-ChIP_U2OS_Human1.45545562
44ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.45200841
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.42657477
46* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.41369872
47POU3F2_20337985_ChIP-ChIP_501MEL_Human1.41119860
48SMAD3_21741376_ChIP-Seq_EPCs_Human1.38246229
49* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.35584711
50TOP2B_26459242_ChIP-Seq_MCF-7_Human1.33432262
51CTBP1_25329375_ChIP-Seq_LNCAP_Human1.32544195
52WT1_19549856_ChIP-ChIP_CCG9911_Human1.32340711
53NR3C1_23031785_ChIP-Seq_PC12_Mouse1.30893711
54NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.30488371
55NRF2_20460467_ChIP-Seq_MEFs_Mouse1.30488371
56TCF4_18268006_ChIP-ChIP_LS174T_Human1.30290573
57TP63_17297297_ChIP-ChIP_HaCaT_Human1.29546405
58ESR1_20079471_ChIP-ChIP_T-47D_Human1.29519830
59AR_25329375_ChIP-Seq_VCAP_Human1.28140723
60STAT3_23295773_ChIP-Seq_U87_Human1.26686185
61* BCAT_22108803_ChIP-Seq_LS180_Human1.26578779
62TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.24246399
63SOX2_21211035_ChIP-Seq_LN229_Gbm1.23507317
64* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.23482141
65TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.22677813
66CBX2_27304074_Chip-Seq_ESCs_Mouse1.21788662
67NR3C1_21868756_ChIP-Seq_MCF10A_Human1.21653244
68RXR_22108803_ChIP-Seq_LS180_Human1.20610447
69SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.19710782
70TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.17843987
71CJUN_26792858_Chip-Seq_BT549_Human1.16678392
72PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.16023814
73WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.15624115
74FUS_26573619_Chip-Seq_HEK293_Human1.12478989
75LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12467489
76GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10994237
77* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.09527990
78ESR2_21235772_ChIP-Seq_MCF-7_Human1.09456505
79STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.09448909
80ZNF274_21170338_ChIP-Seq_K562_Hela1.09441115
81NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.08426165
82BMI1_23680149_ChIP-Seq_NPCS_Mouse1.08238038
83EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.07541217
84AR_19668381_ChIP-Seq_PC3_Human1.07334453
85UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.07078904
86BRD4_25478319_ChIP-Seq_HGPS_Human1.05988467
87* RING1B_27294783_Chip-Seq_NPCs_Mouse1.05933189
88SMAD3_21741376_ChIP-Seq_HESCs_Human1.05635628
89SOX9_24532713_ChIP-Seq_HFSC_Mouse1.04978772
90SALL1_21062744_ChIP-ChIP_HESCs_Human1.04430660
91REST_21632747_ChIP-Seq_MESCs_Mouse1.04394004
92BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.04373869
93TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04214729
94* TCF4_23295773_ChIP-Seq_U87_Human1.04151389
95* RUNX2_22187159_ChIP-Seq_PCA_Human1.04051620
96* RING1B_27294783_Chip-Seq_ESCs_Mouse1.04029582
97MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03209756
98KDM2B_26808549_Chip-Seq_REH_Human1.01949590
99RARB_27405468_Chip-Seq_BRAIN_Mouse1.01913768
100* SMAD4_21741376_ChIP-Seq_HESCs_Human1.01806557
101* TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.01057693
102IGF1R_20145208_ChIP-Seq_DFB_Human1.00320342
103ISL1_27105846_Chip-Seq_CPCs_Mouse1.00155057
104CTNNB1_20460455_ChIP-Seq_HCT116_Human0.99829657
105* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.99521666
106BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.98298572
107TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.97069161
108FOXM1_26456572_ChIP-Seq_MCF-7_Human0.96638185
109PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.95969642
110CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.94740580
111MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.94171152
112TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93225791
113* NANOG_18555785_Chip-Seq_ESCs_Mouse0.91663154
114PRDM14_20953172_ChIP-Seq_ESCs_Human0.91070505
115ER_23166858_ChIP-Seq_MCF-7_Human0.90922501
116GATA2_21666600_ChIP-Seq_HMVEC_Human0.90797722

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity3.67044519
2MP0004270_analgesia2.76557728
3MP0004272_abnormal_basement_membrane2.74589026
4MP0003880_abnormal_central_pattern2.57163063
5MP0003635_abnormal_synaptic_transmissio2.43004923
6MP0010368_abnormal_lymphatic_system2.40444383
7MP0009780_abnormal_chondrocyte_physiolo2.21034171
8MP0005623_abnormal_meninges_morphology2.11339282
9MP0010234_abnormal_vibrissa_follicle2.06044982
10MP0001879_abnormal_lymphatic_vessel2.02343001
11MP0005275_abnormal_skin_tensile1.94839982
12MP0002063_abnormal_learning/memory/cond1.91328275
13MP0001968_abnormal_touch/_nociception1.78232527
14MP0002734_abnormal_mechanical_nocicepti1.73696466
15MP0000778_abnormal_nervous_system1.73539656
16MP0009745_abnormal_behavioral_response1.73220488
17MP0004858_abnormal_nervous_system1.71957784
18MP0000569_abnormal_digit_pigmentation1.71319722
19MP0001486_abnormal_startle_reflex1.65938848
20MP0001299_abnormal_eye_distance/1.65417507
21MP0005503_abnormal_tendon_morphology1.62651855
22MP0009046_muscle_twitch1.60590254
23MP0003566_abnormal_cell_adhesion1.60121459
24MP0002064_seizures1.57059717
25MP0002572_abnormal_emotion/affect_behav1.56552345
26MP0004484_altered_response_of1.50454434
27MP0005187_abnormal_penis_morphology1.48844591
28MP0005257_abnormal_intraocular_pressure1.46988967
29MP0001501_abnormal_sleep_pattern1.45842441
30MP0002735_abnormal_chemical_nociception1.45605009
31MP0008438_abnormal_cutaneous_collagen1.44746389
32MP0005167_abnormal_blood-brain_barrier1.43688663
33MP0005409_darkened_coat_color1.42643890
34MP0005171_absent_coat_pigmentation1.40590019
35MP0003941_abnormal_skin_development1.39783684
36MP0010678_abnormal_skin_adnexa1.39651416
37MP0003122_maternal_imprinting1.37040739
38MP0009384_cardiac_valve_regurgitation1.36307924
39MP0006276_abnormal_autonomic_nervous1.36053133
40MP0000534_abnormal_ureter_morphology1.34797835
41MP0009250_abnormal_appendicular_skeleto1.34584016
42MP0002009_preneoplasia1.33386362
43MP0000751_myopathy1.31364093
44MP0001958_emphysema1.31121878
45MP0002184_abnormal_innervation1.28718123
46MP0000516_abnormal_urinary_system1.28348214
47MP0005367_renal/urinary_system_phenotyp1.28348214
48MP0001188_hyperpigmentation1.26358267
49MP0001177_atelectasis1.26234838
50MP0010386_abnormal_urinary_bladder1.25726780
51MP0003045_fibrosis1.25638606
52MP0003385_abnormal_body_wall1.23671198
53MP0003950_abnormal_plasma_membrane1.23221029
54MP0002733_abnormal_thermal_nociception1.23122588
55MP0002272_abnormal_nervous_system1.20756061
56MP0004215_abnormal_myocardial_fiber1.19624944
57MP0008004_abnormal_stomach_pH1.18288088
58MP0006138_congestive_heart_failure1.17052934
59MP0001440_abnormal_grooming_behavior1.16534624
60MP0000462_abnormal_digestive_system1.15570985
61MP0002108_abnormal_muscle_morphology1.15533883
62MP0004085_abnormal_heartbeat1.14001720
63MP0000383_abnormal_hair_follicle1.12860430
64MP0002067_abnormal_sensory_capabilities1.12007327
65MP0005248_abnormal_Harderian_gland1.11142308
66MP0002736_abnormal_nociception_after1.10650653
67MP0000537_abnormal_urethra_morphology1.09658061
68MP0010352_gastrointestinal_tract_polyps1.09281466
69MP0002557_abnormal_social/conspecific_i1.08944669
70MP0001970_abnormal_pain_threshold1.08611122
71MP0003283_abnormal_digestive_organ1.08583881
72MP0003091_abnormal_cell_migration1.07585163
73MP0004036_abnormal_muscle_relaxation1.06585295
74MP0004145_abnormal_muscle_electrophysio1.06330727
75MP0000579_abnormal_nail_morphology1.04892307
76MP0004885_abnormal_endolymph1.04291911
77MP0003868_abnormal_feces_composition1.00547491
78MP0004924_abnormal_behavior1.00150131
79MP0005386_behavior/neurological_phenoty1.00150131
80MP0005423_abnormal_somatic_nervous0.97904315
81MP0000733_abnormal_muscle_development0.97289229
82MP0002295_abnormal_pulmonary_circulatio0.97058610
83MP0002822_catalepsy0.96682322
84MP0004811_abnormal_neuron_physiology0.96486170
85MP0004084_abnormal_cardiac_muscle0.93979601
86MP0000955_abnormal_spinal_cord0.93700673
87MP0005620_abnormal_muscle_contractility0.93377679
88MP0008569_lethality_at_weaning0.93249506
89MP0002896_abnormal_bone_mineralization0.92764704
90MP0005508_abnormal_skeleton_morphology0.92495827
91MP0003828_pulmonary_edema0.92201687
92MP0002882_abnormal_neuron_morphology0.91807602
93MP0002972_abnormal_cardiac_muscle0.91098585
94MP0000762_abnormal_tongue_morphology0.88155557
95MP0005595_abnormal_vascular_smooth0.87476402
96MP0003942_abnormal_urinary_system0.87315384
97MP0000013_abnormal_adipose_tissue0.86693476
98MP0003935_abnormal_craniofacial_develop0.86029205
99MP0003279_aneurysm0.85887987
100MP0005388_respiratory_system_phenotype0.85534047
101MP0002133_abnormal_respiratory_system0.85534047
102MP0010030_abnormal_orbit_morphology0.83598066
103MP0000427_abnormal_hair_cycle0.83212745
104MP0000767_abnormal_smooth_muscle0.82765233
105MP0002877_abnormal_melanocyte_morpholog0.82629767
106MP0001984_abnormal_olfaction0.82548967
107MP0003755_abnormal_palate_morphology0.82351205
108MP0003787_abnormal_imprinting0.81824381
109MP0003633_abnormal_nervous_system0.81436434
110MP0003634_abnormal_glial_cell0.79948718
111MP0008775_abnormal_heart_ventricle0.77377915
112MP0002168_other_aberrant_phenotype0.76081141
113MP0003705_abnormal_hypodermis_morpholog0.75530409
114MP0004134_abnormal_chest_morphology0.75499066
115MP0001346_abnormal_lacrimal_gland0.75170676
116MP0004130_abnormal_muscle_cell0.74921822
117MP0005023_abnormal_wound_healing0.74712286
118MP0003329_amyloid_beta_deposits0.74639791
119MP0002909_abnormal_adrenal_gland0.73342637
120MP0000647_abnormal_sebaceous_gland0.72570409
121MP0004883_abnormal_blood_vessel0.72410022
122MP0002796_impaired_skin_barrier0.72001558
123MP0002128_abnormal_blood_circulation0.71118750
124MP0000538_abnormal_urinary_bladder0.70397731

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)3.75309296
2Action tremor (HP:0002345)3.52524312
3Focal seizures (HP:0007359)3.20407920
4Progressive cerebellar ataxia (HP:0002073)2.81932884
5Atonic seizures (HP:0010819)2.65379453
6Aqueductal stenosis (HP:0002410)2.63420904
7Febrile seizures (HP:0002373)2.58472791
8Abnormality of the nasal septum (HP:0000419)2.57579595
9Myokymia (HP:0002411)2.57571694
10Genetic anticipation (HP:0003743)2.55697178
11Shallow orbits (HP:0000586)2.48215841
12Midline defect of the nose (HP:0004122)2.47873913
13Macroorchidism (HP:0000053)2.45035753
14Broad metatarsal (HP:0001783)2.43549572
15Epileptic encephalopathy (HP:0200134)2.43279758
16Soft skin (HP:0000977)2.41894180
17Bladder diverticulum (HP:0000015)2.39909038
18Overgrowth (HP:0001548)2.38647693
19Aplasia involving bones of the extremities (HP:0009825)2.36896876
20Aplasia involving bones of the upper limbs (HP:0009823)2.36896876
21Aplasia of the phalanges of the hand (HP:0009802)2.36896876
22Exotropia (HP:0000577)2.34694955
23Drooling (HP:0002307)2.32165413
24Excessive salivation (HP:0003781)2.32165413
25Broad-based gait (HP:0002136)2.32016575
26Hyperventilation (HP:0002883)2.30874554
27Wormian bones (HP:0002645)2.30411105
28Termporal pattern (HP:0011008)2.22376554
29Insidious onset (HP:0003587)2.22376554
30Arterial tortuosity (HP:0005116)2.18029712
31Hematochezia (HP:0002573)2.17787610
32Short 4th metacarpal (HP:0010044)2.15900818
33Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.15900818
34Absence seizures (HP:0002121)2.12767600
35Vascular tortuosity (HP:0004948)2.11632530
36Fragile skin (HP:0001030)2.07610555
37Neonatal short-limb short stature (HP:0008921)2.07153789
38Ulnar claw (HP:0001178)2.06943399
39Right ventricular cardiomyopathy (HP:0011663)2.03787575
40Papilledema (HP:0001085)1.99999951
41Cutaneous finger syndactyly (HP:0010554)1.99301441
42Aortic aneurysm (HP:0004942)1.98142868
43Striae distensae (HP:0001065)1.97871125
44Buphthalmos (HP:0000557)1.97647909
45Hyporeflexia of lower limbs (HP:0002600)1.96847008
46Neurofibrillary tangles (HP:0002185)1.93678670
47Narrow palate (HP:0000189)1.92760229
48Generalized tonic-clonic seizures (HP:0002069)1.92015838
49Atrial fibrillation (HP:0005110)1.91880192
50Atrophic scars (HP:0001075)1.90221095
51Absent speech (HP:0001344)1.89814221
52Wide anterior fontanel (HP:0000260)1.89754352
53Asymmetry of the thorax (HP:0001555)1.89053774
54Bronchomalacia (HP:0002780)1.88769639
55Inappropriate behavior (HP:0000719)1.87690741
56Cerebral aneurysm (HP:0004944)1.86536859
57Dysdiadochokinesis (HP:0002075)1.85638867
58Widely spaced teeth (HP:0000687)1.85402211
59Absent frontal sinuses (HP:0002688)1.84941024
60Cervical subluxation (HP:0003308)1.83857911
61Hypoplasia of the iris (HP:0007676)1.83374756
62Wrist flexion contracture (HP:0001239)1.82889102
63Hyperextensible skin (HP:0000974)1.81303764
64Coronal craniosynostosis (HP:0004440)1.80892620
65Blue irides (HP:0000635)1.80478406
66Vertebral arch anomaly (HP:0008438)1.80204399
67Spinal rigidity (HP:0003306)1.80125071
68Papillary thyroid carcinoma (HP:0002895)1.79832149
69Type 1 muscle fiber predominance (HP:0003803)1.79016061
70Amblyopia (HP:0000646)1.78939223
71Mutism (HP:0002300)1.78760789
72Dialeptic seizures (HP:0011146)1.78644069
73Hyperthyroidism (HP:0000836)1.78568514
74Bundle branch block (HP:0011710)1.78353058
75Intention tremor (HP:0002080)1.77416443
76Abnormality of the ischium (HP:0003174)1.77295464
77Hypoventilation (HP:0002791)1.77068688
78Joint laxity (HP:0001388)1.76150742
79Mild short stature (HP:0003502)1.76096173
80Broad ribs (HP:0000885)1.74807341
81Hypoplastic nipples (HP:0002557)1.73989511
82Follicular hyperkeratosis (HP:0007502)1.73848175
83Obstructive sleep apnea (HP:0002870)1.73778520
84Megalencephaly (HP:0001355)1.73296307
85Neoplasm of the heart (HP:0100544)1.73243596
86Aneurysm (HP:0002617)1.72898521
87Abnormality of salivation (HP:0100755)1.72582700
88Genu recurvatum (HP:0002816)1.72062694
89Lower limb amyotrophy (HP:0007210)1.72045856
90Absent eyebrow (HP:0002223)1.71818512
91Osteolytic defects of the phalanges of the hand (HP:0009771)1.71810441
92Osteolytic defects of the hand bones (HP:0009699)1.71810441
93Mitral stenosis (HP:0001718)1.71721940
94Syncope (HP:0001279)1.71653324
95Microglossia (HP:0000171)1.71396714
96Pulmonic stenosis (HP:0001642)1.70883042
97Mitral valve prolapse (HP:0001634)1.70388797
98Aortic dissection (HP:0002647)1.69765599
99Visual hallucinations (HP:0002367)1.69492575
100Urinary bladder sphincter dysfunction (HP:0002839)1.68906988
101Hip contracture (HP:0003273)1.67895602
102Primary atrial arrhythmia (HP:0001692)1.67783422
103Spondylolisthesis (HP:0003302)1.66362730
104Venous insufficiency (HP:0005293)1.64693826
105Aplasia cutis congenita (HP:0001057)1.64205277
106Tibial bowing (HP:0002982)1.63911819
107Abnormality of incisor morphology (HP:0011063)1.63628874
108Thickened helices (HP:0000391)1.63322036
109Gaze-evoked nystagmus (HP:0000640)1.63044540
110Bowel diverticulosis (HP:0005222)1.62050298
111Scanning speech (HP:0002168)1.60841527
112Bradycardia (HP:0001662)1.60462287
113Dilatation of the ascending aorta (HP:0005111)1.60106357
114Ankle contracture (HP:0006466)1.60018100
115Sudden death (HP:0001699)1.59633228
116Lymphangioma (HP:0100764)1.58944316
117Limited hip movement (HP:0008800)1.58811955
118Hypoplastic ischia (HP:0003175)1.58647785
119Truncal ataxia (HP:0002078)1.58549416
120Poor eye contact (HP:0000817)1.57392559
121Hydroureter (HP:0000072)1.57246586
122Abnormality of the 4th metacarpal (HP:0010012)1.57078285
123Cutaneous syndactyly (HP:0012725)1.55981802
124Laryngomalacia (HP:0001601)1.55879558
125Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.55714922
126Supraventricular arrhythmia (HP:0005115)1.55026743
127Mildly elevated creatine phosphokinase (HP:0008180)1.54738269
128Abnormality of dentin (HP:0010299)1.54713460
129Protrusio acetabuli (HP:0003179)1.53563245
130Premature rupture of membranes (HP:0001788)1.52403973
131Agitation (HP:0000713)1.52261252
132Cubitus valgus (HP:0002967)1.52207943
133Pulmonary artery stenosis (HP:0004415)1.52041088
134Venous abnormality (HP:0002624)1.51534264
135Dysmetria (HP:0001310)1.51460436
136Cerebral inclusion bodies (HP:0100314)1.51409043
137Supranuclear gaze palsy (HP:0000605)1.51166078
138Subacute progressive viral hepatitis (HP:0006572)1.51113114
139Short hallux (HP:0010109)1.50851976
140Knee flexion contracture (HP:0006380)1.50583537
141Anxiety (HP:0000739)1.50285026
142Visceral angiomatosis (HP:0100761)1.50125178
143Abnormality of the calf musculature (HP:0001430)1.49762485
144Enlarged penis (HP:0000040)1.49578995
145Supraventricular tachycardia (HP:0004755)1.49519777
146Stereotypic behavior (HP:0000733)1.49160806
147Impaired social interactions (HP:0000735)1.48111018
148Morphological abnormality of the middle ear (HP:0008609)1.47527619
149Mitral regurgitation (HP:0001653)1.46527798
150Infantile muscular hypotonia (HP:0008947)1.45743602
151Hammertoe (HP:0001765)1.45428715
152Aortic valve stenosis (HP:0001650)1.45088676
153Prolonged QT interval (HP:0001657)1.44796270
154Open mouth (HP:0000194)1.44450400

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.14557909
2EPHA42.58643664
3MARK12.57410461
4TIE12.26431303
5MAP3K42.22962094
6MAP3K92.07205700
7MINK11.96176919
8LATS11.95097355
9CASK1.94348682
10FGFR21.85231750
11CAMK1G1.84221069
12FRK1.81620780
13DMPK1.80762532
14MYLK1.78860822
15FER1.71002907
16EPHB21.68722662
17NTRK11.60219664
18LATS21.59286297
19PLK21.53500711
20MAP2K71.52152411
21MAP2K41.48918201
22NTRK21.44408767
23MAP3K21.39641037
24RIPK11.39405741
25ERBB31.31757502
26TTN1.28015470
27PAK61.26785063
28AKT31.26483577
29MAP3K121.26178622
30MET1.23544368
31SGK21.21187993
32CAMK1D1.21186436
33BCR1.20077048
34PNCK1.19630641
35PDGFRA1.19536898
36NEK91.18557794
37DAPK21.16495825
38WNK11.15561197
39PTK2B1.13892467
40TGFBR21.13772934
41DDR21.10543758
42KSR11.10477416
43STK38L1.10050938
44PHKG11.08812359
45PHKG21.08812359
46KSR21.08770641
47GRK51.08001386
48RET1.05314777
49MAPK131.02400881
50SGK31.00975491
51SGK2231.00862636
52SGK4941.00862636
53CDK51.00814088
54PAK31.00630420
55PRKD30.98177914
56FGFR30.96597977
57INSRR0.95335280
58PRKCE0.92751292
59RIPK40.90772962
60STK390.89451203
61CSNK1G20.87429273
62CAMK2A0.86714745
63PRKCH0.84359184
64TRPM70.83306551
65CAMKK10.82753580
66EPHA30.82700894
67PAK20.81581326
68PIK3CA0.78738956
69MAPK70.78639388
70LIMK10.77832562
71LMTK20.75311812
72PDGFRB0.74519844
73NUAK10.73302823
74SGK10.73268954
75STK110.72548713
76STK380.71731205
77ROCK10.70636711
78CSNK1A1L0.69430150
79PTK20.68891386
80MARK20.68341006
81MAP3K60.68124492
82CAMKK20.67576624
83OXSR10.64459798
84TGFBR10.64438693
85OBSCN0.63855472
86FGFR10.62517846
87TNIK0.62017668
88TAOK10.61805537
89UHMK10.60399966
90MTOR0.57575340
91PRPF4B0.56779434
92PRKCG0.56058539
93CAMK10.54856872
94ADRBK10.54679730
95CAMK2B0.54174978
96ROCK20.53974883
97CAMK2D0.52873978
98ICK0.52649966
99PKN20.52098284
100GRK70.52016285
101TYRO30.51680463
102MAP2K10.51428946
103CAMK2G0.50316681
104PDPK10.49179261
105PRKD10.48967355
106PINK10.47666988
107JAK10.47269299
108MAP3K70.47196909
109MAPK100.46329848
110CDC42BPA0.45790776
111RPS6KA20.45608958
112STK240.45252882
113KDR0.45059634
114PRKG10.44432487
115FYN0.44332591
116MAPK120.43153150
117NEK60.42438113
118CAMK40.42161392
119CDK140.41385024
120CDK120.41110787

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050332.08052889
2Circadian entrainment_Homo sapiens_hsa047131.88543787
3Long-term potentiation_Homo sapiens_hsa047201.85806791
4Olfactory transduction_Homo sapiens_hsa047401.71607009
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.71440539
6Renin secretion_Homo sapiens_hsa049241.70167891
7Glutamatergic synapse_Homo sapiens_hsa047241.70116294
8Salivary secretion_Homo sapiens_hsa049701.68023156
9Axon guidance_Homo sapiens_hsa043601.65898724
10Amphetamine addiction_Homo sapiens_hsa050311.63444482
11GABAergic synapse_Homo sapiens_hsa047271.61908818
12Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.60293703
13Dopaminergic synapse_Homo sapiens_hsa047281.56334860
14Morphine addiction_Homo sapiens_hsa050321.55726674
15Synaptic vesicle cycle_Homo sapiens_hsa047211.54740313
16Dorso-ventral axis formation_Homo sapiens_hsa043201.51095348
17Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.49296439
18Cholinergic synapse_Homo sapiens_hsa047251.47226299
19Gastric acid secretion_Homo sapiens_hsa049711.45701735
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.43840881
21Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.40302315
22Oxytocin signaling pathway_Homo sapiens_hsa049211.38778774
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.38121470
24Serotonergic synapse_Homo sapiens_hsa047261.36530110
25Insulin secretion_Homo sapiens_hsa049111.35457265
26Long-term depression_Homo sapiens_hsa047301.34274171
27Dilated cardiomyopathy_Homo sapiens_hsa054141.33894915
28Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.29822300
29GnRH signaling pathway_Homo sapiens_hsa049121.29546871
30Melanogenesis_Homo sapiens_hsa049161.28656224
31Adherens junction_Homo sapiens_hsa045201.27377996
32cAMP signaling pathway_Homo sapiens_hsa040241.27131111
33Taste transduction_Homo sapiens_hsa047421.26517598
34ECM-receptor interaction_Homo sapiens_hsa045121.25582299
35Gap junction_Homo sapiens_hsa045401.23537389
36Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.22986615
37Glioma_Homo sapiens_hsa052141.21935455
38Cocaine addiction_Homo sapiens_hsa050301.20071742
39Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.19002407
40Focal adhesion_Homo sapiens_hsa045101.16340037
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.15384510
42Calcium signaling pathway_Homo sapiens_hsa040201.15194246
43Estrogen signaling pathway_Homo sapiens_hsa049151.14785244
44Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.09605621
45Vascular smooth muscle contraction_Homo sapiens_hsa042701.09489178
46ErbB signaling pathway_Homo sapiens_hsa040121.08543959
47Rap1 signaling pathway_Homo sapiens_hsa040151.05750588
48Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.03577949
49Renal cell carcinoma_Homo sapiens_hsa052110.99684863
50Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.98201892
51Ras signaling pathway_Homo sapiens_hsa040140.95353169
52Nitrogen metabolism_Homo sapiens_hsa009100.92483506
53Type II diabetes mellitus_Homo sapiens_hsa049300.92253643
54Wnt signaling pathway_Homo sapiens_hsa043100.92092414
55Proteoglycans in cancer_Homo sapiens_hsa052050.91918873
56Phospholipase D signaling pathway_Homo sapiens_hsa040720.88174471
57Ovarian steroidogenesis_Homo sapiens_hsa049130.87896416
58Choline metabolism in cancer_Homo sapiens_hsa052310.86714519
59Phosphatidylinositol signaling system_Homo sapiens_hsa040700.84243666
60Tight junction_Homo sapiens_hsa045300.83423721
61Endometrial cancer_Homo sapiens_hsa052130.83348295
62Thyroid hormone signaling pathway_Homo sapiens_hsa049190.82841198
63MAPK signaling pathway_Homo sapiens_hsa040100.82438468
64Bile secretion_Homo sapiens_hsa049760.82181637
65* Hippo signaling pathway_Homo sapiens_hsa043900.81824733
66AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.81099783
67Amoebiasis_Homo sapiens_hsa051460.80171389
68Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.78497537
69Melanoma_Homo sapiens_hsa052180.77159395
70Basal cell carcinoma_Homo sapiens_hsa052170.76913466
71VEGF signaling pathway_Homo sapiens_hsa043700.76880685
72Hedgehog signaling pathway_Homo sapiens_hsa043400.76801122
73Phototransduction_Homo sapiens_hsa047440.76447551
74Pancreatic secretion_Homo sapiens_hsa049720.75290215
75Thyroid hormone synthesis_Homo sapiens_hsa049180.74878994
76Prion diseases_Homo sapiens_hsa050200.74537941
77Regulation of actin cytoskeleton_Homo sapiens_hsa048100.73643793
78Prolactin signaling pathway_Homo sapiens_hsa049170.72088753
79Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.71431739
80Sphingolipid signaling pathway_Homo sapiens_hsa040710.71326482
81Platelet activation_Homo sapiens_hsa046110.70396580
82Neurotrophin signaling pathway_Homo sapiens_hsa047220.70210936
83Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.69160175
84Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.66973280
85Inositol phosphate metabolism_Homo sapiens_hsa005620.66950469
86Small cell lung cancer_Homo sapiens_hsa052220.65601109
87Endocytosis_Homo sapiens_hsa041440.65255369
88* MicroRNAs in cancer_Homo sapiens_hsa052060.64610623
89* TGF-beta signaling pathway_Homo sapiens_hsa043500.64366388
90Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.64318898
91Colorectal cancer_Homo sapiens_hsa052100.63528543
92mTOR signaling pathway_Homo sapiens_hsa041500.61188431
93Prostate cancer_Homo sapiens_hsa052150.60192206
94Chronic myeloid leukemia_Homo sapiens_hsa052200.56526084
95Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.56461550
96PI3K-Akt signaling pathway_Homo sapiens_hsa041510.55272454
97Glycosaminoglycan degradation_Homo sapiens_hsa005310.54604695
98Longevity regulating pathway - mammal_Homo sapiens_hsa042110.54521190
99African trypanosomiasis_Homo sapiens_hsa051430.54266392
100Pathways in cancer_Homo sapiens_hsa052000.53845502
101AMPK signaling pathway_Homo sapiens_hsa041520.53830299
102Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.53616092
103Pancreatic cancer_Homo sapiens_hsa052120.53182005
104Protein digestion and absorption_Homo sapiens_hsa049740.53049498
105Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.52937586
106Circadian rhythm_Homo sapiens_hsa047100.51123925
107Oocyte meiosis_Homo sapiens_hsa041140.50951840
108* Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.50252234
109FoxO signaling pathway_Homo sapiens_hsa040680.49573828
110Glucagon signaling pathway_Homo sapiens_hsa049220.48696394
111Insulin signaling pathway_Homo sapiens_hsa049100.48175313

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