BMP5

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 secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cardiac myofibril assembly (GO:0055003)6.76742510
2myofibril assembly (GO:0030239)6.22863554
3negative regulation of cardiac muscle cell apoptotic process (GO:0010667)6.10724565
4cardiac chamber formation (GO:0003207)5.67583234
5regulation of meiosis I (GO:0060631)5.61519791
6regulation of meiosis (GO:0040020)5.13478802
7endocardial cushion morphogenesis (GO:0003203)5.09414438
8regulation of transforming growth factor beta2 production (GO:0032909)5.03348255
9negative regulation of retinoic acid receptor signaling pathway (GO:0048387)4.91577430
10bundle of His cell to Purkinje myocyte communication (GO:0086069)4.87235260
11cardiac muscle hypertrophy (GO:0003300)4.82478657
12mitotic metaphase plate congression (GO:0007080)4.76332147
13atrial septum morphogenesis (GO:0060413)4.74872743
14cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.73720022
15sarcomere organization (GO:0045214)4.64578639
16outflow tract septum morphogenesis (GO:0003148)4.56395562
17striated muscle hypertrophy (GO:0014897)4.55989316
18mesenchyme morphogenesis (GO:0072132)4.53455384
19DNA damage induced protein phosphorylation (GO:0006975)4.49321230
20regulation of relaxation of muscle (GO:1901077)4.47781062
21cardiac right ventricle morphogenesis (GO:0003215)4.47280012
22negative regulation of smooth muscle cell differentiation (GO:0051151)4.41755055
23regulation of RIG-I signaling pathway (GO:0039535)4.32976904
24regulation of attachment of spindle microtubules to kinetochore (GO:0051988)4.32896983
25cardiac muscle cell development (GO:0055013)4.29943837
26myoblast migration (GO:0051451)4.28580382
27regulation of exit from mitosis (GO:0007096)4.25415067
28adult heart development (GO:0007512)4.24785431
29cardiac muscle tissue morphogenesis (GO:0055008)4.23941736
30desmosome organization (GO:0002934)4.18950449
31piRNA metabolic process (GO:0034587)4.14180871
32oocyte maturation (GO:0001556)4.08909229
33positive regulation of glycolytic process (GO:0045821)4.08329098
34female gamete generation (GO:0007292)4.06863360
35regulation of meiotic cell cycle (GO:0051445)4.03216008
36cardiac cell development (GO:0055006)4.02430350
37regulation of type B pancreatic cell apoptotic process (GO:2000674)4.00899089
38regulation of cardioblast proliferation (GO:0003264)4.00840387
39regulation of secondary heart field cardioblast proliferation (GO:0003266)4.00840387
40positive regulation of cardiac muscle cell differentiation (GO:2000727)4.00136049
41female gonad development (GO:0008585)3.96980058
42positive regulation of megakaryocyte differentiation (GO:0045654)3.96313155
43DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla3.95362770
44muscle hypertrophy (GO:0014896)3.94650096
45regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)3.90801512
46glycerophospholipid catabolic process (GO:0046475)3.90349508
47actomyosin structure organization (GO:0031032)3.87679541
48notochord development (GO:0030903)3.87380158
49regulation of female gonad development (GO:2000194)3.85210242
50metaphase plate congression (GO:0051310)3.84917675
51regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.84241611
52cell communication by electrical coupling (GO:0010644)3.84153246
53DNA damage response, signal transduction resulting in transcription (GO:0042772)3.83227729
54regulation of retinoic acid receptor signaling pathway (GO:0048385)3.82806459
55maturation of 5.8S rRNA (GO:0000460)3.82340197
56monoubiquitinated protein deubiquitination (GO:0035520)3.72903971
57positive regulation of cardiac muscle tissue development (GO:0055025)3.72438484
58muscle tissue morphogenesis (GO:0060415)3.72254142
59meiotic chromosome segregation (GO:0045132)3.71382274
60regulation of hexokinase activity (GO:1903299)3.69647532
61regulation of glucokinase activity (GO:0033131)3.69647532
62negative regulation of cytosolic calcium ion concentration (GO:0051481)3.68958054
63mitotic chromosome condensation (GO:0007076)3.68183054
64ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.67527745
65muscle filament sliding (GO:0030049)3.67397701
66actin-myosin filament sliding (GO:0033275)3.67397701
67positive regulation of cardiac muscle cell proliferation (GO:0060045)3.66657191
68regulation of cardioblast differentiation (GO:0051890)3.66446205
69negative regulation of striated muscle cell apoptotic process (GO:0010664)3.65228010
70relaxation of cardiac muscle (GO:0055119)3.64038292
71cardiac ventricle formation (GO:0003211)3.63352205
72cardiac muscle contraction (GO:0060048)3.61386447
73negative regulation of meiosis (GO:0045835)3.55645990
74drug catabolic process (GO:0042737)3.55309516
75positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.54304351
76negative regulation of myotube differentiation (GO:0010832)3.53292164
77regulation of the force of heart contraction (GO:0002026)3.52767926
78regulation of cell maturation (GO:1903429)3.50106232
79parturition (GO:0007567)3.49736660
80regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.49674022
81fatty acid homeostasis (GO:0055089)3.48407078
82male meiosis (GO:0007140)3.47613856
83meiotic cell cycle (GO:0051321)3.47434325
84negative regulation of gluconeogenesis (GO:0045721)3.44231621
85vascular smooth muscle contraction (GO:0014829)3.43017274
86cardiac conduction (GO:0061337)3.41946137
87positive regulation of endothelial cell differentiation (GO:0045603)3.39683860
88positive regulation of cardiac muscle tissue growth (GO:0055023)3.39175110
89thyroid hormone generation (GO:0006590)3.38857931
90regulation of skeletal muscle cell differentiation (GO:2001014)3.34886599
91establishment of chromosome localization (GO:0051303)3.34844688
92regulation of smooth muscle cell differentiation (GO:0051150)3.31638475
93cell communication involved in cardiac conduction (GO:0086065)3.29033688
94thyroid hormone metabolic process (GO:0042403)3.28989093
95positive regulation of ATP catabolic process (GO:1903291)3.28110215
96positive regulation of ATPase activity (GO:0032781)3.28110215
97mitotic sister chromatid segregation (GO:0000070)3.27741175
98actin-mediated cell contraction (GO:0070252)3.26871367
99fat-soluble vitamin biosynthetic process (GO:0042362)3.26384753
100smooth muscle tissue development (GO:0048745)3.26067123
101positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)3.25643594
102venous blood vessel morphogenesis (GO:0048845)3.23618006
103* negative regulation of hormone biosynthetic process (GO:0032353)3.22413071
104negative regulation of homotypic cell-cell adhesion (GO:0034111)3.22409270
105regulation of sister chromatid cohesion (GO:0007063)3.19405508
106regulation of sarcomere organization (GO:0060297)3.19287507
107regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022353.19022095
108endocrine pancreas development (GO:0031018)3.18987358
109sequestering of extracellular ligand from receptor (GO:0035581)3.18938884
110heart valve formation (GO:0003188)3.18829054
111regulation of histone H3-K27 methylation (GO:0061085)3.16749159
112regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.16642513
113nitric oxide mediated signal transduction (GO:0007263)3.16451341
114regulation of ATPase activity (GO:0043462)3.15354753
115regulation of ATP catabolic process (GO:1903289)3.15354753
116morphogenesis of an epithelial sheet (GO:0002011)3.15164924
117regulation of spindle organization (GO:0090224)3.12978710
118urate metabolic process (GO:0046415)3.10208377
119insulin secretion (GO:0030073)3.09096923
120regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.07995765
121mesenchymal cell differentiation (GO:0048762)3.07690333
122surfactant homeostasis (GO:0043129)3.05964657
123ventricular cardiac muscle cell action potential (GO:0086005)3.05486458
124cardiac muscle tissue development (GO:0048738)3.04393765
125sulfate transmembrane transport (GO:1902358)3.04359316
126nucleoside diphosphate catabolic process (GO:0009134)3.04214149
127cardiac muscle hypertrophy in response to stress (GO:0014898)3.04162818
128muscle hypertrophy in response to stress (GO:0003299)3.04162818
129cardiac muscle adaptation (GO:0014887)3.04162818
130positive regulation of heart growth (GO:0060421)3.02518386
131regulation of mitotic spindle organization (GO:0060236)3.01673229
132urea cycle (GO:0000050)3.00935754
133urea metabolic process (GO:0019627)3.00935754
134relaxation of smooth muscle (GO:0044557)2.96591911
135trivalent inorganic anion homeostasis (GO:0072506)2.96561613
136phosphate ion homeostasis (GO:0055062)2.96561613
137negative regulation of reproductive process (GO:2000242)2.95871904
138regulation of cardiac muscle cell apoptotic process (GO:0010665)2.94939766
139regulation of heart rate (GO:0002027)2.93705731
140histone H2A monoubiquitination (GO:0035518)2.92274839
141regulation of cardiac muscle cell differentiation (GO:2000725)2.91868049
142positive regulation of respiratory burst (GO:0060267)2.91649060
143detection of calcium ion (GO:0005513)2.90910276
144kidney morphogenesis (GO:0060993)2.90576126
145negative regulation of protein oligomerization (GO:0032460)2.89219657
146regulation of cardiac muscle cell proliferation (GO:0060043)2.88182415
147negative regulation of Ras GTPase activity (GO:0034261)2.87740147
148regulation of cardiac muscle tissue development (GO:0055024)2.87045624
149regulation of endothelial cell differentiation (GO:0045601)2.86105883
150microtubule nucleation (GO:0007020)2.85755327
151negative regulation of acute inflammatory response (GO:0002674)2.84508340
152wound healing, spreading of cells (GO:0044319)2.84207988
153attachment of spindle microtubules to kinetochore (GO:0008608)2.84037113
154cellular anion homeostasis (GO:0030002)2.83109034
155cardiac septum development (GO:0003279)2.82196455
156cytoplasmic mRNA processing body assembly (GO:0033962)2.81817776
157regulation of actin filament-based movement (GO:1903115)2.81316264
158regulation of heart rate by cardiac conduction (GO:0086091)2.78989123
159sulfate transport (GO:0008272)2.76918305
160positive regulation of glycogen biosynthetic process (GO:0045725)2.76781736
161embryonic heart tube development (GO:0035050)2.76478804
162pathway-restricted SMAD protein phosphorylation (GO:0060389)2.75605526
163dentate gyrus development (GO:0021542)2.75597391
164ventricular cardiac muscle cell development (GO:0055015)2.75516756
165uterus development (GO:0060065)2.75110948
166chromosome segregation (GO:0007059)2.73901684
167* negative regulation of hormone metabolic process (GO:0032351)2.73631883
168glandular epithelial cell differentiation (GO:0002067)2.71768352
169negative regulation of keratinocyte proliferation (GO:0010839)2.69470381
170* positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)2.68923838
171CENP-A containing nucleosome assembly (GO:0034080)2.68417687
172N-terminal protein amino acid acetylation (GO:0006474)2.64691341
173regulation of integrin-mediated signaling pathway (GO:2001044)2.64557344
174male meiosis I (GO:0007141)2.64483369
175positive regulation of extracellular matrix organization (GO:1903055)2.64189056
176mitotic sister chromatid cohesion (GO:0007064)2.62472392
177estrogen metabolic process (GO:0008210)2.62430766
178muscle cell migration (GO:0014812)2.60095131
179regulation of protein activation cascade (GO:2000257)2.60047550
180positive regulation of epithelial to mesenchymal transition (GO:0010718)2.59858877
181meiosis I (GO:0007127)2.58598798
182nitrogen cycle metabolic process (GO:0071941)2.58478412
183phosphatidylglycerol biosynthetic process (GO:0006655)2.57551823
184sister chromatid segregation (GO:0000819)2.57064040
185chromatin remodeling at centromere (GO:0031055)2.55628709
186snRNA transcription (GO:0009301)2.51794505
187cartilage morphogenesis (GO:0060536)2.51721951
188protein localization to chromosome (GO:0034502)2.50853865
189positive regulation of meiosis (GO:0045836)2.49912982
190regulation of complement activation (GO:0030449)2.49311846
191histone H2A ubiquitination (GO:0033522)2.49300062
192positive regulation of granulocyte differentiation (GO:0030854)2.48173912
193spindle checkpoint (GO:0031577)2.44875071
194cysteine metabolic process (GO:0006534)2.44758570
195complement activation, alternative pathway (GO:0006957)2.44265274
196positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.44262292
197negative regulation of circadian rhythm (GO:0042754)2.42278291
198regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.41173209

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SMAD_19615063_ChIP-ChIP_OVARY_Human4.35828281
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.58447582
3KAP1_22055183_ChIP-Seq_ESCs_Mouse3.48197581
4FOXM1_23109430_ChIP-Seq_U2OS_Human3.32904305
5HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.06015847
6TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.78441923
7BP1_19119308_ChIP-ChIP_Hs578T_Human2.78348546
8EGR1_23403033_ChIP-Seq_LIVER_Mouse2.72240222
9TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.67985130
10SALL1_21062744_ChIP-ChIP_HESCs_Human2.47913848
11NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.45655150
12ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.42165716
13ESR1_20079471_ChIP-ChIP_T-47D_Human2.35405128
14AR_21909140_ChIP-Seq_LNCAP_Human2.33407151
15ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.22818125
16EP300_21415370_ChIP-Seq_HL-1_Mouse2.21963813
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.20178333
18STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.13376722
19FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.07604855
20RXR_22158963_ChIP-Seq_LIVER_Mouse2.05273634
21AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.97287842
22P300_19829295_ChIP-Seq_ESCs_Human1.95357897
23CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.92192316
24TAF15_26573619_Chip-Seq_HEK293_Human1.89213266
25LXR_22158963_ChIP-Seq_LIVER_Mouse1.88591277
26CTBP2_25329375_ChIP-Seq_LNCAP_Human1.83300720
27FLI1_27457419_Chip-Seq_LIVER_Mouse1.79612588
28SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.78506014
29TP63_19390658_ChIP-ChIP_HaCaT_Human1.74478598
30SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.72437694
31SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.70314144
32* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.69952983
33OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.68765597
34GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.67313966
35PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.67285147
36SMAD3_21741376_ChIP-Seq_EPCs_Human1.66370461
37* RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.62857453
38WT1_19549856_ChIP-ChIP_CCG9911_Human1.62449320
39* FOXM1_26456572_ChIP-Seq_MCF-7_Human1.62443363
40BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.61485301
41* CJUN_26792858_Chip-Seq_BT549_Human1.60366729
42BCAT_22108803_ChIP-Seq_LS180_Human1.60197406
43MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.59368418
44VDR_22108803_ChIP-Seq_LS180_Human1.57212199
45BMI1_23680149_ChIP-Seq_NPCS_Mouse1.56799211
46CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.55337492
47CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.54897541
48NR3C1_23031785_ChIP-Seq_PC12_Mouse1.53536459
49* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.52645488
50SALL4_18804426_ChIP-ChIP_XEN_Mouse1.51200386
51PCGF2_27294783_Chip-Seq_ESCs_Mouse1.50734426
52TOP2B_26459242_ChIP-Seq_MCF-7_Human1.48892741
53STAT1_17558387_ChIP-Seq_HELA_Human1.46185609
54GATA1_26923725_Chip-Seq_HPCs_Mouse1.45694695
55RBPJ_22232070_ChIP-Seq_NCS_Mouse1.45512757
56SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.44923609
57NR3C1_21868756_ChIP-Seq_MCF10A_Human1.43771200
58LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.43222759
59SUZ12_27294783_Chip-Seq_NPCs_Mouse1.43046714
60EED_16625203_ChIP-ChIP_MESCs_Mouse1.41917247
61TCF4_23295773_ChIP-Seq_U87_Human1.41385415
62TRIM28_21343339_ChIP-Seq_HEK293_Human1.40562425
63CBX2_27304074_Chip-Seq_ESCs_Mouse1.39872606
64* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.39777175
65NANOG_18555785_Chip-Seq_ESCs_Mouse1.39244272
66ZNF274_21170338_ChIP-Seq_K562_Hela1.38533029
67SMAD3_21741376_ChIP-Seq_HESCs_Human1.37580540
68* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.36732067
69MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.35200203
70EWS_26573619_Chip-Seq_HEK293_Human1.34871226
71CDX2_22108803_ChIP-Seq_LS180_Human1.33669538
72PPARA_22158963_ChIP-Seq_LIVER_Mouse1.32983002
73CTBP1_25329375_ChIP-Seq_LNCAP_Human1.32732974
74CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.31249490
75EZH2_27304074_Chip-Seq_ESCs_Mouse1.30166392
76* ISL1_27105846_Chip-Seq_CPCs_Mouse1.29865754
77SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.29235232
78CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.29157288
79NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.28825250
80NRF2_20460467_ChIP-Seq_MEFs_Mouse1.28825250
81SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.28613002
82POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.28074857
83TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.28074857
84JARID2_20064375_ChIP-Seq_MESCs_Mouse1.26762922
85GBX2_23144817_ChIP-Seq_PC3_Human1.26272271
86EZH2_27294783_Chip-Seq_NPCs_Mouse1.26132576
87RUNX1_26923725_Chip-Seq_HPCs_Mouse1.24993371
88FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.24894450
89TCF4_22108803_ChIP-Seq_LS180_Human1.23680806
90TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.23306536
91* PIAS1_25552417_ChIP-Seq_VCAP_Human1.23101177
92SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.21527295
93ARNT_22903824_ChIP-Seq_MCF-7_Human1.21267694
94NFE2_27457419_Chip-Seq_LIVER_Mouse1.20900499
95TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.20755764
96RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.19968599
97NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.19156801
98SOX2_21211035_ChIP-Seq_LN229_Gbm1.18309136
99EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.17914587
100* STAT3_23295773_ChIP-Seq_U87_Human1.17511632
101ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.17307417
102RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.17276601
103HTT_18923047_ChIP-ChIP_STHdh_Human1.17241708
104PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.16975507
105TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16749242
106IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.16318480
107FUS_26573619_Chip-Seq_HEK293_Human1.16110120
108IGF1R_20145208_ChIP-Seq_DFB_Human1.14844220
109EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.14285381
110AHR_22903824_ChIP-Seq_MCF-7_Human1.13689549
111E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.13177306
112SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.12735050
113HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.10545935
114SOX2_19829295_ChIP-Seq_ESCs_Human1.10302941
115NANOG_19829295_ChIP-Seq_ESCs_Human1.10302941
116KDM2B_26808549_Chip-Seq_REH_Human1.10283186
117SMAD4_21741376_ChIP-Seq_HESCs_Human1.10089696
118STAT3_18555785_Chip-Seq_ESCs_Mouse1.09832473
119CDX2_19796622_ChIP-Seq_MESCs_Mouse1.09767299
120NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.08927319
121MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.08141825
122PPAR_26484153_Chip-Seq_NCI-H1993_Human1.07941728
123WT1_25993318_ChIP-Seq_PODOCYTE_Human1.07751013
124SOX2_18555785_Chip-Seq_ESCs_Mouse1.07551105
125CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.07235155
126ER_23166858_ChIP-Seq_MCF-7_Human1.07084141
127ZFP57_27257070_Chip-Seq_ESCs_Mouse1.06304364
128RNF2_27304074_Chip-Seq_NSC_Mouse1.05687763
129AUTS2_25519132_ChIP-Seq_293T-REX_Human1.05359874
130PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.04478239
131TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03622301
132SUZ12_18555785_Chip-Seq_ESCs_Mouse1.03196556
133CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.02313100
134KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.01630886
135LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01605187
136TAL1_26923725_Chip-Seq_HPCs_Mouse1.01417201
137PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.00424933
138TBL1_22424771_ChIP-Seq_293T_Human0.99675349
139EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.99543466
140ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.99523125
141TP63_23658742_ChIP-Seq_EP156T_Human0.99265052
142NMYC_18555785_Chip-Seq_ESCs_Mouse0.99198408
143ESR1_21235772_ChIP-Seq_MCF-7_Human0.97866215
144NFYA_21822215_ChIP-Seq_K562_Human0.97732779
145AR_25329375_ChIP-Seq_VCAP_Human0.96443102
146E2F1_18555785_Chip-Seq_ESCs_Mouse0.96347733
147* SMAD4_21799915_ChIP-Seq_A2780_Human0.95818634
148FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.93513433
149CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.93358185
150AR_21572438_ChIP-Seq_LNCaP_Human0.93025981
151P53_22387025_ChIP-Seq_ESCs_Mouse0.92998594
152ZFX_18555785_Chip-Seq_ESCs_Mouse0.92413459
153CMYC_18555785_Chip-Seq_ESCs_Mouse0.91538062
154OCT4_18555785_Chip-Seq_ESCs_Mouse0.91377346
155BRD4_25478319_ChIP-Seq_HGPS_Human0.90548467
156* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.90272183
157TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.90090685
158FOXH1_21741376_ChIP-Seq_EPCs_Human0.90085694

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis5.43852461
2MP0005451_abnormal_body_composition5.25536518
3MP0003646_muscle_fatigue4.12669079
4MP0003941_abnormal_skin_development3.92510913
5MP0003718_maternal_effect3.79773454
6MP0004215_abnormal_myocardial_fiber3.59554824
7MP0002139_abnormal_hepatobiliary_system3.42139978
8MP0003283_abnormal_digestive_organ3.31375363
9MP0010368_abnormal_lymphatic_system3.27038028
10MP0003195_calcinosis2.92391890
11MP0005408_hypopigmentation2.89163817
12MP0005360_urolithiasis2.85048121
13MP0004782_abnormal_surfactant_physiolog2.76351784
14MP0000566_synostosis2.67059542
15MP0005330_cardiomyopathy2.59928119
16MP0005365_abnormal_bile_salt2.47551779
17MP0002972_abnormal_cardiac_muscle2.36385920
18MP0003123_paternal_imprinting2.36119196
19MP0003567_abnormal_fetal_cardiomyocyte2.35044357
20MP0008875_abnormal_xenobiotic_pharmacok2.25322769
21MP0009697_abnormal_copulation2.25140847
22MP0010234_abnormal_vibrissa_follicle2.23860026
23MP0005085_abnormal_gallbladder_physiolo2.22300292
24MP0005395_other_phenotype2.17266059
25MP0004085_abnormal_heartbeat2.14867011
26* MP0001119_abnormal_female_reproductive2.04296184
27MP0003693_abnormal_embryo_hatching2.02033547
28MP0009780_abnormal_chondrocyte_physiolo1.96053928
29MP0009250_abnormal_appendicular_skeleto1.95842841
30MP0002909_abnormal_adrenal_gland1.94586262
31MP0003122_maternal_imprinting1.94431775
32MP0003699_abnormal_female_reproductive1.88745014
33MP0003937_abnormal_limbs/digits/tail_de1.88407864
34MP0002653_abnormal_ependyma_morphology1.84652890
35MP0003137_abnormal_impulse_conducting1.82685487
36MP0005620_abnormal_muscle_contractility1.80453994
37MP0006072_abnormal_retinal_apoptosis1.79975667
38MP0002638_abnormal_pupillary_reflex1.79477005
39MP0005220_abnormal_exocrine_pancreas1.72883131
40MP0000579_abnormal_nail_morphology1.72411615
41MP0009384_cardiac_valve_regurgitation1.71561749
42MP0010030_abnormal_orbit_morphology1.68307748
43MP0001944_abnormal_pancreas_morphology1.60319622
44MP0003121_genomic_imprinting1.59546272
45MP0000013_abnormal_adipose_tissue1.59483620
46MP0005248_abnormal_Harderian_gland1.54827387
47MP0010630_abnormal_cardiac_muscle1.54512666
48MP0006292_abnormal_olfactory_placode1.50610965
49MP0000767_abnormal_smooth_muscle1.49886992
50MP0004264_abnormal_extraembryonic_tissu1.48937722
51MP0000678_abnormal_parathyroid_gland1.47265353
52MP0002282_abnormal_trachea_morphology1.47012067
53MP0008877_abnormal_DNA_methylation1.44031736
54MP0002693_abnormal_pancreas_physiology1.43097226
55MP0005257_abnormal_intraocular_pressure1.36153999
56MP0003787_abnormal_imprinting1.35428155
57MP0005503_abnormal_tendon_morphology1.34547453
58MP0003252_abnormal_bile_duct1.34358808
59MP0001661_extended_life_span1.33741094
60MP0001346_abnormal_lacrimal_gland1.32027996
61MP0008004_abnormal_stomach_pH1.30908653
62MP0000569_abnormal_digit_pigmentation1.29720955
63MP0008995_early_reproductive_senescence1.27312455
64MP0002106_abnormal_muscle_physiology1.24852194
65MP0000639_abnormal_adrenal_gland1.22400782
66MP0002138_abnormal_hepatobiliary_system1.22051223
67MP0003077_abnormal_cell_cycle1.18717946
68MP0004087_abnormal_muscle_fiber1.17167377
69MP0001984_abnormal_olfaction1.16361973
70* MP0000653_abnormal_sex_gland1.15456726
71MP0005253_abnormal_eye_physiology1.14569142
72MP0010094_abnormal_chromosome_stability1.13307201
73MP0005369_muscle_phenotype1.10805945
74MP0003111_abnormal_nucleus_morphology1.10130105
75MP0003115_abnormal_respiratory_system1.08914718
76MP0003755_abnormal_palate_morphology1.08110948
77MP0002078_abnormal_glucose_homeostasis1.08076459
78MP0001915_intracranial_hemorrhage1.06650366
79MP0009046_muscle_twitch1.06529407
80MP0005645_abnormal_hypothalamus_physiol1.06302928
81MP0005647_abnormal_sex_gland1.05713054
82MP0005385_cardiovascular_system_phenoty1.05379129
83MP0001544_abnormal_cardiovascular_syste1.05379129
84MP0009053_abnormal_anal_canal1.05271170
85MP0000427_abnormal_hair_cycle1.05047301
86* MP0002249_abnormal_larynx_morphology1.03974407
87MP0002168_other_aberrant_phenotype1.02887823
88MP0000751_myopathy1.02667495
89MP0003385_abnormal_body_wall1.02062065
90MP0006138_congestive_heart_failure1.01632537
91MP0010386_abnormal_urinary_bladder1.00347165
92MP0005551_abnormal_eye_electrophysiolog1.00302265
93MP0002210_abnormal_sex_determination0.99564257
94MP0003935_abnormal_craniofacial_develop0.99446779
95MP0008438_abnormal_cutaneous_collagen0.98593718
96MP0002127_abnormal_cardiovascular_syste0.97839813
97MP0004185_abnormal_adipocyte_glucose0.97587949
98MP0008007_abnormal_cellular_replicative0.97529650
99MP0010352_gastrointestinal_tract_polyps0.96723720
100MP0003119_abnormal_digestive_system0.95991954
101MP0001929_abnormal_gametogenesis0.95352832
102MP0003656_abnormal_erythrocyte_physiolo0.95015523
103* MP0000462_abnormal_digestive_system0.94619662
104MP0004510_myositis0.94377324
105MP0005646_abnormal_pituitary_gland0.94268927
106* MP0005508_abnormal_skeleton_morphology0.92564218
107MP0004036_abnormal_muscle_relaxation0.90481208
108MP0004272_abnormal_basement_membrane0.90105090
109MP0003011_delayed_dark_adaptation0.89044901
110MP0002932_abnormal_joint_morphology0.88318936
111MP0002938_white_spotting0.87799933
112MP0002295_abnormal_pulmonary_circulatio0.87080700
113MP0002090_abnormal_vision0.85890219
114MP0004957_abnormal_blastocyst_morpholog0.85626477
115MP0005379_endocrine/exocrine_gland_phen0.85607200
116MP0001958_emphysema0.85112967
117MP0000266_abnormal_heart_morphology0.84873140
118MP0005187_abnormal_penis_morphology0.84635919
119* MP0001175_abnormal_lung_morphology0.84141981
120MP0002971_abnormal_brown_adipose0.81802231
121MP0002877_abnormal_melanocyte_morpholog0.81247381
122MP0004084_abnormal_cardiac_muscle0.79903771
123MP0004484_altered_response_of0.79557743
124MP0000383_abnormal_hair_follicle0.78738064
125* MP0002085_abnormal_embryonic_tissue0.78422727
126MP0008775_abnormal_heart_ventricle0.77931278
127MP0010329_abnormal_lipoprotein_level0.76890083
128MP0000538_abnormal_urinary_bladder0.76850175
129MP0005448_abnormal_energy_balance0.76825448
130MP0000733_abnormal_muscle_development0.76652270
131* MP0002109_abnormal_limb_morphology0.76523878
132MP0005275_abnormal_skin_tensile0.76307991
133MP0003890_abnormal_embryonic-extraembry0.73856645
134MP0002009_preneoplasia0.73667387
135MP0001756_abnormal_urination0.73446949
136MP0002163_abnormal_gland_morphology0.73241677
137MP0004043_abnormal_pH_regulation0.72973475
138MP0003705_abnormal_hypodermis_morpholog0.72786772
139MP0000003_abnormal_adipose_tissue0.72487097
140MP0003868_abnormal_feces_composition0.71903200
141MP0004145_abnormal_muscle_electrophysio0.71391753
142MP0010678_abnormal_skin_adnexa0.71187466
143MP0000749_muscle_degeneration0.70650368
144MP0002876_abnormal_thyroid_physiology0.70401725
145* MP0001614_abnormal_blood_vessel0.70252436
146MP0001177_atelectasis0.70100534
147MP0001784_abnormal_fluid_regulation0.69151797
148MP0002697_abnormal_eye_size0.68804033
149MP0002088_abnormal_embryonic_growth/wei0.68618080
150MP0002132_abnormal_respiratory_system0.67245029
151MP0001851_eye_inflammation0.67206434
152MP0003045_fibrosis0.67133580
153MP0003942_abnormal_urinary_system0.66925159
154MP0002928_abnormal_bile_duct0.66546010
155MP0003943_abnormal_hepatobiliary_system0.66156539
156MP0000516_abnormal_urinary_system0.65776277
157MP0005367_renal/urinary_system_phenotyp0.65776277
158* MP0002116_abnormal_craniofacial_bone0.65761958
159* MP0000163_abnormal_cartilage_morphology0.65708301
160* MP0002115_abnormal_skeleton_extremities0.65503305
161* MP0000432_abnormal_head_morphology0.64955473
162MP0001299_abnormal_eye_distance/0.64712214
163MP0002128_abnormal_blood_circulation0.64632583
164MP0005197_abnormal_uvea_morphology0.64574348
165MP0002234_abnormal_pharynx_morphology0.64340605
166MP0003984_embryonic_growth_retardation0.64192987
167MP0005386_behavior/neurological_phenoty0.63998848
168MP0004924_abnormal_behavior0.63998848
169MP0004147_increased_porphyrin_level0.63447358
170* MP0002925_abnormal_cardiovascular_devel0.63291643
171MP0002822_catalepsy0.61814279

Predicted human phenotypes

RankGene SetZ-score
1Hypoglycemic seizures (HP:0002173)7.49804231
2Hyperinsulinemic hypoglycemia (HP:0000825)6.48456486
3Hypoglycemic coma (HP:0001325)6.19017097
4Ventricular tachycardia (HP:0004756)5.08760804
5Right ventricular cardiomyopathy (HP:0011663)4.95227636
6Flat capital femoral epiphysis (HP:0003370)4.87827175
7Symptomatic seizures (HP:0011145)4.77003194
8Ketoacidosis (HP:0001993)4.73111019
9Calf muscle hypertrophy (HP:0008981)4.69513992
10Sudden death (HP:0001699)4.49243208
11Shawl scrotum (HP:0000049)4.38283736
12Male infertility (HP:0003251)4.32221853
13Abnormality of endocrine pancreas physiology (HP:0012093)4.23138264
14Abnormality of the pancreatic islet cells (HP:0006476)4.23138264
15Muscle hypertrophy of the lower extremities (HP:0008968)4.12227360
16Patent foramen ovale (HP:0001655)4.09507007
17Bundle branch block (HP:0011710)4.06329198
18Abnormal pancreas size (HP:0012094)3.93982296
19Abnormality of the calf musculature (HP:0001430)3.93210281
20Arterial tortuosity (HP:0005116)3.87018604
21Adrenal hypoplasia (HP:0000835)3.86659537
22Papillary thyroid carcinoma (HP:0002895)3.70201346
23Atrial fibrillation (HP:0005110)3.64872807
24Prominent metopic ridge (HP:0005487)3.62325478
25Congenital malformation of the right heart (HP:0011723)3.54302283
26Double outlet right ventricle (HP:0001719)3.54302283
27Deep venous thrombosis (HP:0002625)3.52477223
28Vascular tortuosity (HP:0004948)3.52195725
29Midline defect of the nose (HP:0004122)3.44457530
30Late onset (HP:0003584)3.41077147
31Pancreatic islet-cell hyperplasia (HP:0004510)3.37037559
32Syncope (HP:0001279)3.36592168
33Large for gestational age (HP:0001520)3.34115975
34Abnormality of the metopic suture (HP:0005556)3.29913950
35Primary atrial arrhythmia (HP:0001692)3.16323940
36Abnormality of the ischium (HP:0003174)3.09610073
37Long toe (HP:0010511)3.09251235
38Aortic dissection (HP:0002647)2.98363129
39Chromsome breakage (HP:0040012)2.96753714
40Patellar aplasia (HP:0006443)2.96709170
41Supraventricular tachycardia (HP:0004755)2.95427974
42Capillary hemangiomas (HP:0005306)2.93749099
43Cortical dysplasia (HP:0002539)2.92266562
44Breast hypoplasia (HP:0003187)2.91056921
45Supraventricular arrhythmia (HP:0005115)2.87834335
46Intrahepatic cholestasis (HP:0001406)2.83792811
47Camptodactyly of toe (HP:0001836)2.82963672
48Facial hemangioma (HP:0000329)2.79436686
49Chromosomal breakage induced by crosslinking agents (HP:0003221)2.78385772
50Ventricular arrhythmia (HP:0004308)2.77092556
51Aplasia/Hypoplasia of the patella (HP:0006498)2.76078991
52Palpitations (HP:0001962)2.69627411
53Follicular hyperkeratosis (HP:0007502)2.67392775
54Ketosis (HP:0001946)2.65054398
55Spondylolisthesis (HP:0003302)2.65023537
56Left ventricular hypertrophy (HP:0001712)2.57164764
57Ankle contracture (HP:0006466)2.55989408
58Hypothermia (HP:0002045)2.55316373
59Metaphyseal dysplasia (HP:0100255)2.54087549
60Tetany (HP:0001281)2.47542256
61Wrist flexion contracture (HP:0001239)2.46752313
62Aortic aneurysm (HP:0004942)2.46140832
63Chronic bronchitis (HP:0004469)2.45694985
64Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.45428356
65Spontaneous abortion (HP:0005268)2.44876084
66Abnormality of the labia minora (HP:0012880)2.42167646
67Hypergonadotropic hypogonadism (HP:0000815)2.39560024
68Thyroid carcinoma (HP:0002890)2.38541154
69Hematochezia (HP:0002573)2.34753003
70Acute myeloid leukemia (HP:0004808)2.31107565
71Heart block (HP:0012722)2.29823257
72Enlarged penis (HP:0000040)2.28918640
73Lipoatrophy (HP:0100578)2.27043242
74Dilated cardiomyopathy (HP:0001644)2.25959219
75Hypomagnesemia (HP:0002917)2.23547039
76EEG with generalized epileptiform discharges (HP:0011198)2.21362250
77Epileptiform EEG discharges (HP:0011182)2.20108953
78Hyperglycemia (HP:0003074)2.19229233
79Aplasia/Hypoplasia of the breasts (HP:0010311)2.17542091
80Microglossia (HP:0000171)2.17447453
81Abnormality of chromosome segregation (HP:0002916)2.17192015
82Abnormality of the epiphysis of the femoral head (HP:0010574)2.16746037
83Abnormality of the left ventricular outflow tract (HP:0011103)2.16511620
84Subaortic stenosis (HP:0001682)2.16511620
85Bradycardia (HP:0001662)2.15717966
86Hypsarrhythmia (HP:0002521)2.15383748
87Hypoplastic ischia (HP:0003175)2.15354735
88Complement deficiency (HP:0004431)2.13342226
89Downturned corners of mouth (HP:0002714)2.10725398
90Breast aplasia (HP:0100783)2.09565184
91Genital tract atresia (HP:0001827)2.08590626
92Abnormality of the femoral head (HP:0003368)2.06954331
93Irregular epiphyses (HP:0010582)2.06433771
94Abnormality of femoral epiphyses (HP:0006499)2.05196454
95Abnormality involving the epiphyses of the lower limbs (HP:0006500)2.05196454
96Shallow orbits (HP:0000586)2.04953559
97Absent eyebrow (HP:0002223)2.04908978
98Vitreoretinal degeneration (HP:0000655)2.04473647
99Abnormality of the fingertips (HP:0001211)2.03709279
100Secondary amenorrhea (HP:0000869)2.03148205
101Oligodactyly (hands) (HP:0001180)2.02714318
102Sandal gap (HP:0001852)2.02655608
103Lymphangioma (HP:0100764)2.02344985
104Malnutrition (HP:0004395)2.02144260
105Abnormal atrioventricular conduction (HP:0005150)2.01651516
106Rimmed vacuoles (HP:0003805)2.01358547
107Flexion contracture of toe (HP:0005830)2.01236211
108Joint contractures involving the joints of the feet (HP:0100492)2.01236211
109Arachnodactyly (HP:0001166)1.99383386
110Prostate neoplasm (HP:0100787)1.97617696
111Lip pit (HP:0100267)1.96100080
112Hypoalphalipoproteinemia (HP:0003233)1.96024835
113Limited hip movement (HP:0008800)1.95631471
114Anterior segment dysgenesis (HP:0007700)1.95342112
115Abnormality of incisor morphology (HP:0011063)1.95147346
116Birth length less than 3rd percentile (HP:0003561)1.94135927
117Chorioretinal atrophy (HP:0000533)1.93344584
118Broad metatarsal (HP:0001783)1.93277639
119Abnormality of lateral ventricle (HP:0030047)1.91835394
120Aplasia/Hypoplasia involving the musculature (HP:0001460)1.91827975
121EMG: myopathic abnormalities (HP:0003458)1.91075879
122Abnormal EKG (HP:0003115)1.90867584
123Testicular neoplasm (HP:0010788)1.90464581
124Abnormality of vitamin B metabolism (HP:0004340)1.87931161
125Abnormality of calcium-phosphate metabolism (HP:0100530)1.87643448
126Vaginal atresia (HP:0000148)1.87252049
127Protrusio acetabuli (HP:0003179)1.86966522
128Pulmonary artery stenosis (HP:0004415)1.86774874
129Abnormality of urine glucose concentration (HP:0011016)1.86245239
130Glycosuria (HP:0003076)1.86245239
131Aqueductal stenosis (HP:0002410)1.86113597
132Insulin-resistant diabetes mellitus (HP:0000831)1.84454154
133Abnormality of the intervertebral disk (HP:0005108)1.84351666
134Prolonged QT interval (HP:0001657)1.83110783
135Polycythemia (HP:0001901)1.82596397
136Proximal tubulopathy (HP:0000114)1.81282259
137Type I diabetes mellitus (HP:0100651)1.81019767
138Oligodactyly (HP:0012165)1.78843892
139Decreased circulating renin level (HP:0003351)1.78590282
140Hypoplastic left heart (HP:0004383)1.78275695
141Visceral angiomatosis (HP:0100761)1.77840601
142Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)1.77607505
143Medial flaring of the eyebrow (HP:0010747)1.77115700
144Aplasia involving bones of the upper limbs (HP:0009823)1.75810186
145Aplasia of the phalanges of the hand (HP:0009802)1.75810186
146Aplasia involving bones of the extremities (HP:0009825)1.75810186
147Cystic hygroma (HP:0000476)1.75259809
148Neonatal hypoglycemia (HP:0001998)1.75171810
149Abnormality of the pulmonary veins (HP:0011718)1.74436869
150Retinal atrophy (HP:0001105)1.73783736
151Difficulty running (HP:0009046)1.73652719
152Protuberant abdomen (HP:0001538)1.73252252
153Diastasis recti (HP:0001540)1.72952338
154Hemiparesis (HP:0001269)1.72472340
155Abnormality of the intrinsic pathway (HP:0010989)1.72058148
156Soft skin (HP:0000977)1.70929967
157Hyperphosphaturia (HP:0003109)1.70731945
158Increased circulating renin level (HP:0000848)1.70548447
159Abnormality of aromatic amino acid family metabolism (HP:0004338)1.68553066
160Tubulointerstitial fibrosis (HP:0005576)1.68390318
161Disproportionate short-trunk short stature (HP:0003521)1.68238176
162Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.68131777
163Abnormality of methionine metabolism (HP:0010901)1.67737221
164Enlarged kidneys (HP:0000105)1.67216146
165Abnormality of the phalanges of the hallux (HP:0010057)1.67114803
166Prolonged partial thromboplastin time (HP:0003645)1.66506826
167Cerebellar dysplasia (HP:0007033)1.66183426
168Ectopic kidney (HP:0000086)1.65973259
169Insulin resistance (HP:0000855)1.65509153
170Coarctation of aorta (HP:0001680)1.65228108
171Pancreatic fibrosis (HP:0100732)1.65067465
172Short hallux (HP:0010109)1.63614794
173Abnormality of the labia majora (HP:0012881)1.63274185
174Aplasia/Hypoplasia of the fovea (HP:0008060)1.63083163
175Hypoplasia of the fovea (HP:0007750)1.63083163
176Hip contracture (HP:0003273)1.62476493
177Esophageal varix (HP:0002040)1.62091698
178Hamartoma of the eye (HP:0010568)1.62071417
179Abnormality of the vitamin B12 metabolism (HP:0004341)1.61889111
180Congenital primary aphakia (HP:0007707)1.61258296
181Menstrual irregularities (HP:0000858)1.60482857
182Hypoplastic labia majora (HP:0000059)1.59699501
183Febrile seizures (HP:0002373)1.59647263
184Hypokalemia (HP:0002900)1.59307780
185Abnormality of magnesium homeostasis (HP:0004921)1.59184022
186Meckel diverticulum (HP:0002245)1.58594524
187Gout (HP:0001997)1.58501406
188Neonatal death (HP:0003811)1.58318199
189Goiter (HP:0000853)1.58199225
190Hemangiomatosis (HP:0007461)1.57903863
191Hepatocellular carcinoma (HP:0001402)1.57719219
192Gait imbalance (HP:0002141)1.54599711

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PKN25.82103331
2LATS14.52412513
3ERBB43.97900757
4MUSK3.90992061
5FLT33.83492321
6PLK43.68205134
7STK38L3.66923876
8LATS23.53835810
9MAP3K63.31422062
10KSR23.17973989
11FGFR23.17805742
12PASK2.85150606
13BRAF2.77080994
14EEF2K2.61226659
15TAOK32.53295057
16MAP3K132.37372637
17TAOK12.32071352
18TTK2.29399903
19RAF12.16956911
20MAPKAPK32.02267092
21STK32.01387362
22GRK71.97801393
23KSR11.70681616
24MAP3K91.70641544
25CDK81.69265209
26TNIK1.61277019
27CASK1.57150752
28MAP3K21.56550527
29ARAF1.55122482
30CDK91.48068506
31TRPM71.46073741
32MELK1.45401323
33MOS1.36865756
34NUAK11.34007912
35FGFR31.27109769
36TIE11.26856615
37STK241.25414748
38NEK91.23613716
39PAK61.22240360
40DMPK1.21652668
41PRKAA21.19394479
42NEK21.14988437
43STK391.14828417
44FER1.09354973
45MAPK131.09197991
46ABL21.02842526
47PHKG21.00948752
48PHKG11.00948752
49OBSCN0.97964637
50CHEK20.97051893
51CDC70.96562772
52EPHA30.95757420
53SGK20.93269483
54FGFR10.90817063
55PRKCE0.88550693
56NTRK30.83744601
57ERBB30.83362500
58AKT30.83000875
59MAPKAPK50.81758261
60STK100.79774757
61PRKD30.79690246
62PLK10.79374192
63ACVR1B0.78215618
64DYRK20.75633976
65PRKAA10.74722918
66CAMK2D0.74187467
67MST40.70201246
68PRKD20.69537732
69MARK20.68832774
70MYLK0.68084008
71CAMK10.66807267
72INSRR0.66153503
73HIPK20.64947717
74CDK30.64113086
75MAP3K70.63360431
76MAPK110.63289754
77AURKB0.62930913
78PTK2B0.60315336
79GRK10.60100899
80EPHB20.60025197
81PDGFRB0.57851821
82WNK30.57430778
83FRK0.55793278
84MAP3K80.54877312
85DAPK20.54475637
86SGK30.53116656
87MAP3K100.52989343
88ADRBK10.51041954
89DDR20.50207973
90STK380.50148555
91MAP3K50.49649313
92PLK30.49540762
93RPS6KA40.49503821
94MAP2K40.49317329
95WNK10.49299001
96NLK0.48878783
97PIK3CA0.47249132
98STK110.46991724
99MAP2K10.45951051
100MAP2K70.44035484
101RPS6KB20.43492839
102JAK30.43448602
103SGK4940.42601166
104SGK2230.42601166
105MAPK70.41616191
106YES10.41481242
107ADRBK20.38976798
108LMTK20.38958798
109PLK20.38888753
110ZAK0.38726482
111MAP3K40.38671905
112ROCK10.37358068
113PRKG10.37254797
114MAP4K20.34181187
115PDGFRA0.34163408
116BMPR1B0.32968438
117OXSR10.32760118
118PAK30.32497960
119AURKA0.32086467
120PRKACA0.31863624
121BMPR20.29827930
122PINK10.29795658
123BRSK10.29374254
124MAP2K60.29296423
125ATM0.28914470
126CHUK0.28577653
127ABL10.28238384
128KIT0.27343760
129WNK40.26727397
130CSNK1G10.26395680
131PIK3CG0.25477592
132MET0.25148043
133BRSK20.24821894
134MAPK120.24495690
135MAP2K20.24210725
136CAMK2A0.24204249
137RET0.24200886
138CAMK40.24197284
139ILK0.23755294
140UHMK10.23234391
141CDC42BPA0.23067450
142TGFBR20.22884405
143BCR0.22561990
144CDK50.22547125
145MAP3K10.22266230
146MKNK10.22191057
147JAK20.22184229
148ERBB20.22010841
149SIK10.21667354
150PDK10.21663000
151IRAK10.21302689
152PTK20.20785152
153MAP3K120.20296607
154RIPK10.19796800
155MKNK20.19656191
156SRPK10.18683593
157CAMK1D0.18543396

Predicted pathways (KEGG)

RankGene SetZ-score
1Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.12560134
2Insulin secretion_Homo sapiens_hsa049113.05678566
3Ovarian steroidogenesis_Homo sapiens_hsa049133.04036069
4Cell cycle_Homo sapiens_hsa041102.82238759
5Primary bile acid biosynthesis_Homo sapiens_hsa001202.60968566
6Circadian rhythm_Homo sapiens_hsa047102.59129854
7Vitamin B6 metabolism_Homo sapiens_hsa007502.58007845
8Type II diabetes mellitus_Homo sapiens_hsa049302.41029031
9RNA degradation_Homo sapiens_hsa030182.39931655
10Cardiac muscle contraction_Homo sapiens_hsa042602.23489842
11Complement and coagulation cascades_Homo sapiens_hsa046102.05083614
12Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.97926877
13Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.89561046
14Pancreatic cancer_Homo sapiens_hsa052121.80324076
15alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.76206857
16Arginine biosynthesis_Homo sapiens_hsa002201.75411726
17Tryptophan metabolism_Homo sapiens_hsa003801.74219887
18Basal transcription factors_Homo sapiens_hsa030221.71675901
19Protein export_Homo sapiens_hsa030601.71650966
20Linoleic acid metabolism_Homo sapiens_hsa005911.70688225
21Regulation of autophagy_Homo sapiens_hsa041401.67848206
22Renin secretion_Homo sapiens_hsa049241.66775533
23* TGF-beta signaling pathway_Homo sapiens_hsa043501.64870235
24Adherens junction_Homo sapiens_hsa045201.63250315
25Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.56091566
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.53334390
27Chemical carcinogenesis_Homo sapiens_hsa052041.52133917
28Steroid hormone biosynthesis_Homo sapiens_hsa001401.46968895
29Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.45587835
30Retinol metabolism_Homo sapiens_hsa008301.44254937
31Ether lipid metabolism_Homo sapiens_hsa005651.43298412
32Sulfur metabolism_Homo sapiens_hsa009201.42819351
33cGMP-PKG signaling pathway_Homo sapiens_hsa040221.37050591
34Histidine metabolism_Homo sapiens_hsa003401.33480092
35Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.28429111
36Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.21609900
37ECM-receptor interaction_Homo sapiens_hsa045121.19283319
38Fatty acid degradation_Homo sapiens_hsa000711.18117568
39Caffeine metabolism_Homo sapiens_hsa002321.12409116
40Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.11930092
41Nitrogen metabolism_Homo sapiens_hsa009101.09496238
42Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.09179092
43beta-Alanine metabolism_Homo sapiens_hsa004101.06989590
44p53 signaling pathway_Homo sapiens_hsa041151.05175244
45Fatty acid elongation_Homo sapiens_hsa000621.04809398
46MicroRNAs in cancer_Homo sapiens_hsa052061.04482237
47Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.02429393
48Choline metabolism in cancer_Homo sapiens_hsa052311.01653159
49Pentose and glucuronate interconversions_Homo sapiens_hsa000401.00388736
50Prolactin signaling pathway_Homo sapiens_hsa049171.00201987
51Tyrosine metabolism_Homo sapiens_hsa003501.00083803
52Cysteine and methionine metabolism_Homo sapiens_hsa002700.99512168
53ABC transporters_Homo sapiens_hsa020100.98736905
54Small cell lung cancer_Homo sapiens_hsa052220.97403612
55Pancreatic secretion_Homo sapiens_hsa049720.97184515
56Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.96385620
57mTOR signaling pathway_Homo sapiens_hsa041500.94056961
58Lysine degradation_Homo sapiens_hsa003100.93730971
59Peroxisome_Homo sapiens_hsa041460.92883536
60Carbohydrate digestion and absorption_Homo sapiens_hsa049730.92776028
61Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.90795944
62Insulin resistance_Homo sapiens_hsa049310.89973670
63GnRH signaling pathway_Homo sapiens_hsa049120.89837988
64* Hippo signaling pathway_Homo sapiens_hsa043900.89630610
65Fatty acid metabolism_Homo sapiens_hsa012120.89481740
66Staphylococcus aureus infection_Homo sapiens_hsa051500.89283394
67Circadian entrainment_Homo sapiens_hsa047130.88884401
68Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.88682698
69PPAR signaling pathway_Homo sapiens_hsa033200.86951455
70Colorectal cancer_Homo sapiens_hsa052100.81446480
71cAMP signaling pathway_Homo sapiens_hsa040240.78921282
72Collecting duct acid secretion_Homo sapiens_hsa049660.78307130
73Malaria_Homo sapiens_hsa051440.77672129
74Bile secretion_Homo sapiens_hsa049760.77362309
75Endometrial cancer_Homo sapiens_hsa052130.76289725
76Amphetamine addiction_Homo sapiens_hsa050310.75892532
77Glucagon signaling pathway_Homo sapiens_hsa049220.75432793
78Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.74644163
79Starch and sucrose metabolism_Homo sapiens_hsa005000.74294719
80Arginine and proline metabolism_Homo sapiens_hsa003300.73807087
81Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.73267074
82Oocyte meiosis_Homo sapiens_hsa041140.72198131
83Renal cell carcinoma_Homo sapiens_hsa052110.71748290
84Type I diabetes mellitus_Homo sapiens_hsa049400.71453007
85Dorso-ventral axis formation_Homo sapiens_hsa043200.71212210
86Sphingolipid metabolism_Homo sapiens_hsa006000.70459728
87FoxO signaling pathway_Homo sapiens_hsa040680.70371970
88Fanconi anemia pathway_Homo sapiens_hsa034600.69880318
89Selenocompound metabolism_Homo sapiens_hsa004500.69218734
90Bladder cancer_Homo sapiens_hsa052190.69193163
91Homologous recombination_Homo sapiens_hsa034400.68672858
92Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.68460997
93AMPK signaling pathway_Homo sapiens_hsa041520.68383225
94Phototransduction_Homo sapiens_hsa047440.67376097
95Salivary secretion_Homo sapiens_hsa049700.67250266
96Basal cell carcinoma_Homo sapiens_hsa052170.67153875
97Glycerolipid metabolism_Homo sapiens_hsa005610.64601962
98Calcium signaling pathway_Homo sapiens_hsa040200.64441343
99Focal adhesion_Homo sapiens_hsa045100.62788168
100Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.61576036
101Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.60101067
102Arachidonic acid metabolism_Homo sapiens_hsa005900.59886068
103Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.59741078
104Prostate cancer_Homo sapiens_hsa052150.57207935
105Notch signaling pathway_Homo sapiens_hsa043300.56874659
106Folate biosynthesis_Homo sapiens_hsa007900.56815802
107Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.55894561
108Glycerophospholipid metabolism_Homo sapiens_hsa005640.55331005
109Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.53511650
110Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.53134388
111Serotonergic synapse_Homo sapiens_hsa047260.52780954
112Thyroid cancer_Homo sapiens_hsa052160.51636057
113Dopaminergic synapse_Homo sapiens_hsa047280.51179734
114Thyroid hormone synthesis_Homo sapiens_hsa049180.51164644
115Vitamin digestion and absorption_Homo sapiens_hsa049770.49316406
116Adipocytokine signaling pathway_Homo sapiens_hsa049200.48423604
117Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.48242499
118Butanoate metabolism_Homo sapiens_hsa006500.47737909
119Mineral absorption_Homo sapiens_hsa049780.47038316
120Oxytocin signaling pathway_Homo sapiens_hsa049210.46969491
121Aldosterone synthesis and secretion_Homo sapiens_hsa049250.46797583
122Hepatitis B_Homo sapiens_hsa051610.46362205
123Long-term depression_Homo sapiens_hsa047300.45920150
124Thyroid hormone signaling pathway_Homo sapiens_hsa049190.45472829
125Drug metabolism - other enzymes_Homo sapiens_hsa009830.45210052
126Propanoate metabolism_Homo sapiens_hsa006400.44639109
127Phosphatidylinositol signaling system_Homo sapiens_hsa040700.44084567
128Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.43845927
129Insulin signaling pathway_Homo sapiens_hsa049100.43740977
130Renin-angiotensin system_Homo sapiens_hsa046140.42879965
131Melanoma_Homo sapiens_hsa052180.42541085
132Taste transduction_Homo sapiens_hsa047420.42315705
133Cocaine addiction_Homo sapiens_hsa050300.42311165
134Vascular smooth muscle contraction_Homo sapiens_hsa042700.42079330
135Amoebiasis_Homo sapiens_hsa051460.42026794
136Tight junction_Homo sapiens_hsa045300.41196916
137TNF signaling pathway_Homo sapiens_hsa046680.40596061
138Hedgehog signaling pathway_Homo sapiens_hsa043400.40136188
139Protein digestion and absorption_Homo sapiens_hsa049740.40080278
140Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.39913577
141Biosynthesis of amino acids_Homo sapiens_hsa012300.39238329
142Glutathione metabolism_Homo sapiens_hsa004800.39044840
143Maturity onset diabetes of the young_Homo sapiens_hsa049500.38988252
144Dilated cardiomyopathy_Homo sapiens_hsa054140.38295589
145Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.37906580
146Wnt signaling pathway_Homo sapiens_hsa043100.37721746
147Ras signaling pathway_Homo sapiens_hsa040140.36205506
148Pyruvate metabolism_Homo sapiens_hsa006200.35658441
149Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.34515122
150Longevity regulating pathway - mammal_Homo sapiens_hsa042110.32850971
151Vibrio cholerae infection_Homo sapiens_hsa051100.30078468
152Melanogenesis_Homo sapiens_hsa049160.29775651
153Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.29606836
154Cyanoamino acid metabolism_Homo sapiens_hsa004600.29111976

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