IGF2R

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 receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cardiac myofibril assembly (GO:0055003)7.05259819
2sarcomere organization (GO:0045214)5.79188769
3actin-myosin filament sliding (GO:0033275)5.70292365
4muscle filament sliding (GO:0030049)5.70292365
5myofibril assembly (GO:0030239)5.68361117
6detection of molecule of bacterial origin (GO:0032490)5.07965306
7regulation of cardioblast differentiation (GO:0051890)5.07527187
8actin-mediated cell contraction (GO:0070252)5.04126892
9negative regulation of cardiac muscle cell apoptotic process (GO:0010667)4.92612766
10cardiac muscle cell development (GO:0055013)4.90656856
11cardiac muscle tissue morphogenesis (GO:0055008)4.84198561
12atrial septum morphogenesis (GO:0060413)4.75000071
13cardiac cell development (GO:0055006)4.70759497
14positive regulation by symbiont of host defense response (GO:0052509)4.70436722
15modulation by symbiont of host defense response (GO:0052031)4.70436722
16modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.70436722
17modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.70436722
18positive regulation by organism of defense response of other organism involved in symbiotic interact4.70436722
19modulation by symbiont of host immune response (GO:0052553)4.70436722
20actomyosin structure organization (GO:0031032)4.52108182
21muscle tissue morphogenesis (GO:0060415)4.42230912
22ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.37344301
23cardiac muscle hypertrophy (GO:0003300)4.37219325
24negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.36636413
25positive regulation of gamma-delta T cell activation (GO:0046645)4.32835800
26negative regulation of striated muscle cell apoptotic process (GO:0010664)4.32129165
27cardiac muscle contraction (GO:0060048)4.23094961
28negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.20632483
29negative regulation of cell killing (GO:0031342)4.20632483
30heart trabecula formation (GO:0060347)4.20522445
31endocardial cushion development (GO:0003197)4.18968872
32cellular extravasation (GO:0045123)4.17778565
33actin filament-based movement (GO:0030048)4.16841889
34antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.14213593
35plasma membrane repair (GO:0001778)4.13946914
36adult heart development (GO:0007512)4.12353827
37striated muscle hypertrophy (GO:0014897)4.10534630
38positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.98919279
39macrophage activation involved in immune response (GO:0002281)3.98504401
40ventricular cardiac muscle cell development (GO:0055015)3.97448661
41negative regulation of potassium ion transmembrane transport (GO:1901380)3.97014677
42outflow tract septum morphogenesis (GO:0003148)3.95504934
43detection of external biotic stimulus (GO:0098581)3.92048886
44cardiac right ventricle morphogenesis (GO:0003215)3.72026688
45muscle hypertrophy (GO:0014896)3.71100597
46response to peptidoglycan (GO:0032494)3.67986357
47detection of other organism (GO:0098543)3.67964113
48trabecula formation (GO:0060343)3.66686539
49positive regulation of cardiac muscle cell proliferation (GO:0060045)3.63449221
50paraxial mesoderm development (GO:0048339)3.57981540
51antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.54366741
52endocardial cushion morphogenesis (GO:0003203)3.47408699
53regulation of interferon-beta biosynthetic process (GO:0045357)3.46716641
54epithelial cell-cell adhesion (GO:0090136)3.44523632
55negative regulation of interleukin-12 production (GO:0032695)3.44022007
56mesenchyme morphogenesis (GO:0072132)3.42151469
57detection of biotic stimulus (GO:0009595)3.40374153
58regulation of transforming growth factor beta2 production (GO:0032909)3.38991135
59bundle of His cell to Purkinje myocyte communication (GO:0086069)3.36731968
60positive regulation of cardiac muscle tissue development (GO:0055025)3.35639750
61heart process (GO:0003015)3.34819765
62heart contraction (GO:0060047)3.34819765
63positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.33204545
64protein localization to endosome (GO:0036010)3.32735069
65hippo signaling (GO:0035329)3.29592526
66basement membrane organization (GO:0071711)3.28692214
67regulation of sarcomere organization (GO:0060297)3.28502920
68regulation of striated muscle cell apoptotic process (GO:0010662)3.27994624
69antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.26525018
70regulation of the force of heart contraction (GO:0002026)3.23432980
71antigen processing and presentation of endogenous antigen (GO:0019883)3.22845220
72neutrophil activation involved in immune response (GO:0002283)3.22637467
73positive regulation of cardiac muscle tissue growth (GO:0055023)3.21429005
74cardiac muscle hypertrophy in response to stress (GO:0014898)3.18910240
75muscle hypertrophy in response to stress (GO:0003299)3.18910240
76cardiac muscle adaptation (GO:0014887)3.18910240
77regulation of B cell receptor signaling pathway (GO:0050855)3.18653744
78macrophage activation (GO:0042116)3.17935679
79heart morphogenesis (GO:0003007)3.15570207
80regulation of gamma-delta T cell activation (GO:0046643)3.14366200
81bone trabecula formation (GO:0060346)3.13813774
82* insulin-like growth factor receptor signaling pathway (GO:0048009)3.13655615
83regulation of cardiac muscle cell proliferation (GO:0060043)3.12280763
84venous blood vessel morphogenesis (GO:0048845)3.11019189
85collagen fibril organization (GO:0030199)3.10325651
86detection of bacterium (GO:0016045)3.09816510
87neuron projection extension involved in neuron projection guidance (GO:1902284)3.09718183
88axon extension involved in axon guidance (GO:0048846)3.09718183
89negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.09480003
90atrioventricular valve morphogenesis (GO:0003181)3.08394788
91chondrocyte proliferation (GO:0035988)3.07212808
92regulation of transcription from RNA polymerase II promoter involved in heart development (GO:1901213.06921992
93striated muscle contraction (GO:0006941)3.05820149
94embryonic foregut morphogenesis (GO:0048617)3.04598590
95cardiac chamber formation (GO:0003207)3.04170555
96response to host (GO:0075136)3.04093951
97response to host defenses (GO:0052200)3.04093951
98response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.04093951
99response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.03962178
100response to host immune response (GO:0052572)3.03962178
101microglial cell activation (GO:0001774)3.03712127
102hypotonic response (GO:0006971)3.02609819
103regulation of cardiac muscle cell apoptotic process (GO:0010665)3.02007222
104endodermal cell differentiation (GO:0035987)3.00703096
105cardiac muscle cell proliferation (GO:0060038)3.00628829
106heart valve formation (GO:0003188)2.99958735
107regulation of heart morphogenesis (GO:2000826)2.99896836
108positive regulation of cellular amide metabolic process (GO:0034250)2.98719906
109regulation of cardiac muscle tissue growth (GO:0055021)2.97163779
110negative regulation of fatty acid transport (GO:2000192)2.96895266
111iron ion import (GO:0097286)2.94417924
112regulation of cardiac muscle tissue development (GO:0055024)2.92000640
113neutrophil mediated immunity (GO:0002446)2.91338449
114antigen processing and presentation via MHC class Ib (GO:0002475)2.91018856
115cell migration involved in sprouting angiogenesis (GO:0002042)2.91006220
116response to muramyl dipeptide (GO:0032495)2.90829788
117lipopolysaccharide-mediated signaling pathway (GO:0031663)2.90558973
118protein heterotrimerization (GO:0070208)2.86903983
119production of molecular mediator involved in inflammatory response (GO:0002532)2.86563738
120gap junction assembly (GO:0016264)2.86246621
121regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.84143792
122regulation of gamma-delta T cell differentiation (GO:0045586)2.83032431
123regulation of SMAD protein import into nucleus (GO:0060390)2.82670665
124positive regulation of SMAD protein import into nucleus (GO:0060391)2.82637928
125regulation of actin filament-based movement (GO:1903115)2.81575025
126response to interleukin-15 (GO:0070672)2.80224178
127regulation of necroptotic process (GO:0060544)2.78401994
128positive regulation of epithelial to mesenchymal transition (GO:0010718)2.78038699
129heart valve morphogenesis (GO:0003179)2.77645832
130leukocyte aggregation (GO:0070486)2.77308514
131positive regulation of receptor recycling (GO:0001921)2.76793524
132response to laminar fluid shear stress (GO:0034616)2.76092427
133positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.76039267
134cell migration involved in heart development (GO:0060973)2.75956844
135positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)2.75834235
136positive regulation of stem cell differentiation (GO:2000738)2.75700771
137regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.75462049
138ventricular cardiac muscle cell action potential (GO:0086005)2.74258020
139cell adhesion mediated by integrin (GO:0033627)2.73307968
140regulation of tight junction assembly (GO:2000810)2.73193221
141negative regulation of erythrocyte differentiation (GO:0045647)2.72495015
142positive regulation of glycogen biosynthetic process (GO:0045725)2.72392383
143negative regulation of lymphocyte mediated immunity (GO:0002707)2.71253960
144polarized epithelial cell differentiation (GO:0030859)2.71251126
145cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.71015691
146sequestering of extracellular ligand from receptor (GO:0035581)2.70429160
147positive regulation of heart growth (GO:0060421)2.69807587
148leukocyte migration involved in inflammatory response (GO:0002523)2.69678257
149regulation of leukocyte degranulation (GO:0043300)2.68953233
150regulation of cell proliferation involved in heart morphogenesis (GO:2000136)2.68887936
151cardiac septum morphogenesis (GO:0060411)2.67477424
152regulation of smooth muscle cell differentiation (GO:0051150)2.62502537
153embryonic heart tube development (GO:0035050)2.61781306
154striated muscle cell development (GO:0055002)2.60991105
155vascular endothelial growth factor signaling pathway (GO:0038084)2.60913757
156positive regulation of Cdc42 GTPase activity (GO:0043089)2.60455675
157respiratory burst (GO:0045730)2.59726790
158fibroblast migration (GO:0010761)2.59465279
159cell proliferation involved in metanephros development (GO:0072203)2.58731834
160germinal center formation (GO:0002467)2.57734810
161pinocytosis (GO:0006907)2.56630349
162regulation of mast cell degranulation (GO:0043304)2.56615178
163positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.55278786
164regulation of myeloid leukocyte mediated immunity (GO:0002886)2.54144276
165embryonic process involved in female pregnancy (GO:0060136)2.53383578
166regulation of macrophage cytokine production (GO:0010935)2.51490791
167regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.51314476
168histone H3-K36 demethylation (GO:0070544)2.50089319
169regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.50038728
170neutrophil activation (GO:0042119)2.49212693
171myeloid leukocyte mediated immunity (GO:0002444)2.48503885
172regulation of T-helper 2 cell differentiation (GO:0045628)2.48465568
173regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.47590011
174positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.47391708
175myeloid cell activation involved in immune response (GO:0002275)2.47370062
176granulocyte activation (GO:0036230)2.47170136
177positive regulation of interferon-alpha production (GO:0032727)2.46706943
178negative regulation of leukocyte mediated immunity (GO:0002704)2.45601736
179cortical actin cytoskeleton organization (GO:0030866)2.42412060
180negative regulation of T cell mediated immunity (GO:0002710)2.42196137
181T-helper 1 type immune response (GO:0042088)2.38325174
182B cell receptor signaling pathway (GO:0050853)2.37964251
183positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.37040177
184negative regulation of toll-like receptor signaling pathway (GO:0034122)2.36976953
185JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.36583492
186mannose metabolic process (GO:0006013)2.35939269
187positive regulation of macrophage cytokine production (GO:0060907)2.34729853
188regulation of mast cell activation involved in immune response (GO:0033006)2.33375978
189positive regulation of leukocyte degranulation (GO:0043302)2.30571365
190regulation of interferon-alpha production (GO:0032647)2.29433846
191oligosaccharide catabolic process (GO:0009313)2.28497368
192regulation of cellular amide metabolic process (GO:0034248)2.27852297
193regulation of tolerance induction (GO:0002643)2.25663292
194regulation of T cell tolerance induction (GO:0002664)2.25233991
195cellular response to type I interferon (GO:0071357)2.22600158
196type I interferon signaling pathway (GO:0060337)2.22600158
197response to type I interferon (GO:0034340)2.22488302
198skin morphogenesis (GO:0043589)2.22404502

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human4.47205041
2TRIM28_21343339_ChIP-Seq_HEK293_Human4.19482305
3NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.72133775
4* EP300_21415370_ChIP-Seq_HL-1_Mouse3.67791218
5RARG_19884340_ChIP-ChIP_MEFs_Mouse3.35425689
6FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.30509161
7CLOCK_20551151_ChIP-Seq_293T_Human3.22232690
8IRF8_22096565_ChIP-ChIP_GC-B_Human3.19150646
9HIF1A_21447827_ChIP-Seq_MCF-7_Human3.02819631
10SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.95073603
11STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.91104107
12BP1_19119308_ChIP-ChIP_Hs578T_Human2.83849820
13MYB_21317192_ChIP-Seq_ERMYB_Mouse2.82788645
14NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.82617251
15IRF8_21731497_ChIP-ChIP_J774_Mouse2.76721844
16MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.72440909
17* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.72320103
18* IRF8_27001747_Chip-Seq_BMDM_Mouse2.67349138
19EGR1_19374776_ChIP-ChIP_THP-1_Human2.65772748
20PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.59975265
21NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.59746405
22Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.57281296
23MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.47998044
24PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.46789700
25STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.39580889
26TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.38216146
27* TBX20_22328084_ChIP-Seq_HEART_Mouse2.31551035
28* TBX20_22080862_ChIP-Seq_HEART_Mouse2.31551035
29WT1_19549856_ChIP-ChIP_CCG9911_Human2.30537966
30SMAD_19615063_ChIP-ChIP_OVARY_Human2.23650402
31SALL4_18804426_ChIP-ChIP_XEN_Mouse2.16654220
32BRD4_27068464_Chip-Seq_AML-cells_Mouse2.15163249
33RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.14545509
34FOXM1_23109430_ChIP-Seq_U2OS_Human2.13803653
35* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.13608220
36* ISL1_27105846_Chip-Seq_CPCs_Mouse2.12845721
37STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.12418925
38* SPI1_23127762_ChIP-Seq_K562_Human2.04968096
39ESR1_20079471_ChIP-ChIP_T-47D_Human2.03458144
40RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.00627642
41NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.96052043
42RUNX_20019798_ChIP-Seq_JUKART_Human1.95657429
43TCF7_22412390_ChIP-Seq_EML_Mouse1.95336423
44VDR_24763502_ChIP-Seq_THP-1_Human1.94247825
45VDR_21846776_ChIP-Seq_THP-1_Human1.93730967
46* ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.92880269
47GATA4_21415370_ChIP-Seq_HL-1_Mouse1.88152283
48TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.86874710
49BRD4_25478319_ChIP-Seq_HGPS_Human1.85540675
50NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.85369952
51KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.83751125
52VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.83013135
53PPAR_26484153_Chip-Seq_NCI-H1993_Human1.80874125
54HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.78057021
55MYC_22102868_ChIP-Seq_BL_Human1.77238412
56* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.76714667
57E2F7_22180533_ChIP-Seq_HELA_Human1.75411264
58IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.73925564
59RBPJ_22232070_ChIP-Seq_NCS_Mouse1.72911245
60CJUN_26792858_Chip-Seq_BT549_Human1.72784440
61STAT6_21828071_ChIP-Seq_BEAS2B_Human1.70797882
62ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.70236303
63KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.70111758
64WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.69785761
65AR_21909140_ChIP-Seq_LNCAP_Human1.68677567
66ELK3_25401928_ChIP-Seq_HUVEC_Human1.67248864
67CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.66404184
68* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.65606093
69SALL1_21062744_ChIP-ChIP_HESCs_Human1.65306936
70MAF_26560356_Chip-Seq_TH1_Human1.64417762
71SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.63261340
72SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.63261340
73RUNX1_22412390_ChIP-Seq_EML_Mouse1.62763462
74* VDR_24787735_ChIP-Seq_THP-1_Human1.62487608
75SCL_19346495_ChIP-Seq_HPC-7_Human1.60784745
76SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.60538707
77SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.59603705
78* SPI1_23547873_ChIP-Seq_NB4_Human1.59060177
79THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.57901176
80CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.57789506
81TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.56009038
82CDX2_19796622_ChIP-Seq_MESCs_Mouse1.55421371
83UBF1/2_26484160_Chip-Seq_HMECs_Human1.53513115
84STAT4_19710469_ChIP-ChIP_TH1__Mouse1.52590510
85* GATA1_19941827_ChIP-Seq_MEL_Mouse1.51376160
86CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.49753465
87PU_27001747_Chip-Seq_BMDM_Mouse1.48979087
88KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.47585217
89FOXO3_23340844_ChIP-Seq_DLD1_Human1.47003848
90ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.44894895
91KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.44835798
92ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.44619508
93ESR1_21235772_ChIP-Seq_MCF-7_Human1.44144312
94NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.43371337
95ZFP281_18757296_ChIP-ChIP_E14_Mouse1.41971121
96GATA1_22025678_ChIP-Seq_K562_Human1.40222948
97P300_27058665_Chip-Seq_ZR-75-30cells_Human1.39592167
98GATA1_19941826_ChIP-Seq_K562_Human1.39438099
99FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.39235708
100* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.39024396
101RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.38728551
102* ATF3_27146783_Chip-Seq_COLON_Human1.37486151
103ESR2_21235772_ChIP-Seq_MCF-7_Human1.36344411
104RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.36241411
105IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.35166451
106MYB_26560356_Chip-Seq_TH1_Human1.34487101
107TP63_19390658_ChIP-ChIP_HaCaT_Human1.34339821
108HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.33668138
109MYB_26560356_Chip-Seq_TH2_Human1.33028447
110UTX_26944678_Chip-Seq_JUKART_Human1.29194643
111TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.27067004
112KDM2B_26808549_Chip-Seq_K562_Human1.26429452
113KDM2B_26808549_Chip-Seq_JURKAT_Human1.25967833
114* LXR_22158963_ChIP-Seq_LIVER_Mouse1.25927163
115SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.25006154
116ZNF263_19887448_ChIP-Seq_K562_Human1.24208079
117SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.24147574
118SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.22649413
119RXR_22158963_ChIP-Seq_LIVER_Mouse1.21944377
120PPARA_22158963_ChIP-Seq_LIVER_Mouse1.20900248
121TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.20891992
122FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.20037160
123CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.17502581
124LXR_22292898_ChIP-Seq_THP-1_Human1.17242905
125NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.16421872
126GATA2_19941826_ChIP-Seq_K562_Human1.16140389
127FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.16085278
128RACK7_27058665_Chip-Seq_MCF-7_Human1.15874121
129KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.14345181
130NANOG_21062744_ChIP-ChIP_HESCs_Human1.13693019
131ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.13000486
132PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.12957609
133SOX9_24532713_ChIP-Seq_HFSC_Mouse1.12179884
134PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.11993352
135* FOXA2_19822575_ChIP-Seq_HepG2_Human1.09507194
136GATA2_22383799_ChIP-Seq_G1ME_Mouse1.08443384
137CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.06814304
138GATA1_22383799_ChIP-Seq_G1ME_Mouse1.06604108
139* EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.06426798
140GATA2_21666600_ChIP-Seq_HMVEC_Human1.06272200
141ZNF217_24962896_ChIP-Seq_MCF-7_Human1.06144800
142TP53_22127205_ChIP-Seq_IMR90_Human1.05770890
143ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.05040606
144JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.04413355
145MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.04230161
146KDM2B_26808549_Chip-Seq_SUP-B15_Human1.04128347
147CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.03491448
148GATA6_25053715_ChIP-Seq_YYC3_Human1.01854401
149BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.01168685
150* KDM2B_26808549_Chip-Seq_DND41_Human1.01141205
151* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01053965
152SOX2_27498859_Chip-Seq_STOMACH_Mouse1.00600353
153CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.00262827
154MAF_26560356_Chip-Seq_TH2_Human0.99788115
155ZFP281_27345836_Chip-Seq_ESCs_Mouse0.98995291
156* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.97873735
157TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.97797661
158POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.97788834
159* NFIB_24661679_ChIP-Seq_LUNG_Mouse0.97313098
160SOX2_20726797_ChIP-Seq_SW620_Human0.97119817
161NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.96778217
162NRF2_20460467_ChIP-Seq_MEFs_Mouse0.96778217
163* CHD1_26751641_Chip-Seq_LNCaP_Human0.95612872
164RUNX1_27514584_Chip-Seq_MCF-7_Human0.95088621
165TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.95034147
166TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.93040767
167NCOR1_26117541_ChIP-Seq_K562_Human0.90743822
168TP53_16413492_ChIP-PET_HCT116_Human0.88771928
169UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.88140407

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004084_abnormal_cardiac_muscle4.21300808
2MP0008438_abnormal_cutaneous_collagen4.17506549
3MP0003724_increased_susceptibility_to3.38113971
4MP0003705_abnormal_hypodermis_morpholog3.25511583
5MP0003303_peritoneal_inflammation3.20663224
6MP0004272_abnormal_basement_membrane3.04381516
7MP0003436_decreased_susceptibility_to3.03314707
8MP0003300_gastrointestinal_ulcer2.89952676
9MP0008260_abnormal_autophagy2.85102754
10MP0003191_abnormal_cellular_cholesterol2.71735090
11MP0005058_abnormal_lysosome_morphology2.49325253
12MP0003567_abnormal_fetal_cardiomyocyte2.49085320
13MP0005275_abnormal_skin_tensile2.46774148
14MP0004036_abnormal_muscle_relaxation2.46034281
15MP0003123_paternal_imprinting2.44438492
16MP0001835_abnormal_antigen_presentation2.41981634
17MP0005330_cardiomyopathy2.38300831
18MP0003279_aneurysm2.33222473
19MP0005503_abnormal_tendon_morphology2.31747554
20MP0002419_abnormal_innate_immunity2.30525197
21MP0000749_muscle_degeneration2.29656752
22MP0010630_abnormal_cardiac_muscle2.19308067
23MP0002972_abnormal_cardiac_muscle2.17215035
24MP0005623_abnormal_meninges_morphology2.15195717
25MP0008775_abnormal_heart_ventricle2.14469583
26MP0003566_abnormal_cell_adhesion2.12608548
27MP0002837_dystrophic_cardiac_calcinosis2.11616110
28MP0004087_abnormal_muscle_fiber2.06011297
29MP0009384_cardiac_valve_regurgitation2.04636331
30MP0003828_pulmonary_edema2.01766561
31MP0000537_abnormal_urethra_morphology1.99645432
32MP0000751_myopathy1.99444450
33MP0000685_abnormal_immune_system1.97374969
34MP0006082_CNS_inflammation1.94502306
35MP0006054_spinal_hemorrhage1.94301688
36* MP0003172_abnormal_lysosome_physiology1.89434538
37MP0005025_abnormal_response_to1.84420996
38MP0010368_abnormal_lymphatic_system1.83699427
39MP0004215_abnormal_myocardial_fiber1.81445198
40MP0000858_altered_metastatic_potential1.78981076
41MP0001533_abnormal_skeleton_physiology1.76451902
42MP0003385_abnormal_body_wall1.76346011
43MP0005464_abnormal_platelet_physiology1.76201420
44MP0004947_skin_inflammation1.75688775
45MP0000569_abnormal_digit_pigmentation1.72276991
46MP0009053_abnormal_anal_canal1.71127030
47* MP0001544_abnormal_cardiovascular_syste1.70321399
48* MP0005385_cardiovascular_system_phenoty1.70321399
49MP0009785_altered_susceptibility_to1.70065987
50MP0005000_abnormal_immune_tolerance1.65986307
51MP0009840_abnormal_foam_cell1.65146740
52* MP0006138_congestive_heart_failure1.64990570
53MP0004883_abnormal_blood_vessel1.62024930
54MP0000733_abnormal_muscle_development1.61763322
55MP0000604_amyloidosis1.61635556
56MP0001800_abnormal_humoral_immune1.61343581
57MP0005620_abnormal_muscle_contractility1.60972641
58* MP0003122_maternal_imprinting1.60428002
59MP0001790_abnormal_immune_system1.60408743
60MP0005387_immune_system_phenotype1.60408743
61MP0002998_abnormal_bone_remodeling1.59420456
62MP0005164_abnormal_response_to1.57100826
63MP0005409_darkened_coat_color1.57013401
64MP0002452_abnormal_antigen_presenting1.56774467
65MP0002723_abnormal_immune_serum1.51680558
66MP0010352_gastrointestinal_tract_polyps1.51660348
67MP0002127_abnormal_cardiovascular_syste1.51521289
68MP0003656_abnormal_erythrocyte_physiolo1.50408412
69MP0003221_abnormal_cardiomyocyte_apopto1.48876514
70MP0000767_abnormal_smooth_muscle1.46845417
71MP0002420_abnormal_adaptive_immunity1.45162574
72MP0001819_abnormal_immune_cell1.44262984
73MP0002877_abnormal_melanocyte_morpholog1.42634488
74MP0002405_respiratory_system_inflammati1.41100920
75MP0005671_abnormal_response_to1.40841788
76MP0000750_abnormal_muscle_regeneration1.40117886
77MP0004233_abnormal_muscle_weight1.39754361
78MP0004510_myositis1.39683664
79MP0004381_abnormal_hair_follicle1.39227316
80MP0002106_abnormal_muscle_physiology1.38545160
81MP0003941_abnormal_skin_development1.37516330
82MP0010030_abnormal_orbit_morphology1.32426054
83MP0002166_altered_tumor_susceptibility1.32353345
84MP0003453_abnormal_keratinocyte_physiol1.30550998
85MP0002148_abnormal_hypersensitivity_rea1.30384072
86MP0003984_embryonic_growth_retardation1.29535525
87MP0003137_abnormal_impulse_conducting1.29317470
88MP0003763_abnormal_thymus_physiology1.28947401
89MP0001958_emphysema1.28316200
90* MP0000266_abnormal_heart_morphology1.28064897
91MP0003690_abnormal_glial_cell1.26762222
92MP0000516_abnormal_urinary_system1.26477090
93MP0005367_renal/urinary_system_phenotyp1.26477090
94* MP0002088_abnormal_embryonic_growth/wei1.25884120
95MP0002925_abnormal_cardiovascular_devel1.24774979
96MP0005076_abnormal_cell_differentiation1.24282599
97MP0002269_muscular_atrophy1.24078187
98MP0004145_abnormal_muscle_electrophysio1.23379620
99* MP0003115_abnormal_respiratory_system1.22698002
100MP0005257_abnormal_intraocular_pressure1.21809090
101MP0009278_abnormal_bone_marrow1.21170614
102MP0005369_muscle_phenotype1.21096455
103MP0003183_abnormal_peptide_metabolism1.20719414
104MP0003329_amyloid_beta_deposits1.20504358
105MP0003448_altered_tumor_morphology1.20477555
106MP0004085_abnormal_heartbeat1.20402754
107MP0005023_abnormal_wound_healing1.18445129
108MP0002128_abnormal_blood_circulation1.18073972
109MP0003950_abnormal_plasma_membrane1.17121132
110MP0004858_abnormal_nervous_system1.16835129
111* MP0003121_genomic_imprinting1.15439993
112MP0005508_abnormal_skeleton_morphology1.14763744
113MP0001845_abnormal_inflammatory_respons1.14650010
114MP0001851_eye_inflammation1.13578558
115MP0003075_altered_response_to1.12860571
116MP0002282_abnormal_trachea_morphology1.12122186
117MP0000759_abnormal_skeletal_muscle1.11782702
118MP0001672_abnormal_embryogenesis/_devel1.11128755
119MP0005380_embryogenesis_phenotype1.11128755
120* MP0004197_abnormal_fetal_growth/weight/1.10169945
121MP0000716_abnormal_immune_system1.09530393
122MP0003091_abnormal_cell_migration1.08592020
123MP0001849_ear_inflammation1.07166754
124MP0001879_abnormal_lymphatic_vessel1.07138563
125MP0002398_abnormal_bone_marrow1.06997570
126MP0003935_abnormal_craniofacial_develop1.06117494
127MP0010155_abnormal_intestine_physiology1.05878467
128MP0003942_abnormal_urinary_system1.05761070
129MP0000371_diluted_coat_color1.04171211
130MP0004808_abnormal_hematopoietic_stem1.03620093
131* MP0002086_abnormal_extraembryonic_tissu1.03560256
132MP0002396_abnormal_hematopoietic_system1.03384060
133MP0005310_abnormal_salivary_gland1.03382444
134MP0008469_abnormal_protein_level1.03114325
135* MP0000428_abnormal_craniofacial_morphol1.02877042
136MP0009250_abnormal_appendicular_skeleto1.02584147
137MP0003937_abnormal_limbs/digits/tail_de1.01801814
138MP0004484_altered_response_of0.99574504
139MP0001614_abnormal_blood_vessel0.98635742
140MP0000534_abnormal_ureter_morphology0.97616411
141MP0001545_abnormal_hematopoietic_system0.97088938
142MP0005397_hematopoietic_system_phenotyp0.97088938
143MP0000747_muscle_weakness0.96845884
144MP0001730_embryonic_growth_arrest0.96815274
145MP0002132_abnormal_respiratory_system0.95983870
146MP0002108_abnormal_muscle_morphology0.95174577
147MP0003045_fibrosis0.93629852
148MP0002722_abnormal_immune_system0.93219057
149MP0009333_abnormal_splenocyte_physiolog0.91909494
150MP0010234_abnormal_vibrissa_follicle0.88107135
151* MP0002429_abnormal_blood_cell0.87525266
152MP0000689_abnormal_spleen_morphology0.86531272
153MP0003119_abnormal_digestive_system0.85618889
154MP0002896_abnormal_bone_mineralization0.85230312
155MP0000343_altered_response_to0.84400136
156MP0004130_abnormal_muscle_cell0.84229673
157MP0002332_abnormal_exercise_endurance0.84225104
158MP0002006_tumorigenesis0.83920873
159MP0002060_abnormal_skin_morphology0.83429165
160MP0004264_abnormal_extraembryonic_tissu0.83044655
161MP0000015_abnormal_ear_pigmentation0.82748935
162MP0000249_abnormal_blood_vessel0.81849598
163MP0005248_abnormal_Harderian_gland0.80406793
164MP0005621_abnormal_cell_physiology0.79934886
165* MP0001697_abnormal_embryo_size0.78969871
166MP0009764_decreased_sensitivity_to0.78532559
167MP0002697_abnormal_eye_size0.78409351
168MP0002084_abnormal_developmental_patter0.77884435
169MP0005390_skeleton_phenotype0.76993062
170* MP0001784_abnormal_fluid_regulation0.76929676
171MP0003795_abnormal_bone_structure0.76892213
172MP0002932_abnormal_joint_morphology0.76005277
173* MP0001175_abnormal_lung_morphology0.75079961
174MP0001299_abnormal_eye_distance/0.71041190
175MP0002085_abnormal_embryonic_tissue0.70794829
176MP0001915_intracranial_hemorrhage0.68807219
177MP0002115_abnormal_skeleton_extremities0.68124336
178MP0000432_abnormal_head_morphology0.68111333
179MP0003755_abnormal_palate_morphology0.68111280

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)4.89295772
2Sudden death (HP:0001699)4.65169371
3Eczematoid dermatitis (HP:0000976)4.54651310
4Abnormality of the left ventricular outflow tract (HP:0011103)4.30944587
5Subaortic stenosis (HP:0001682)4.30944587
6Type 1 muscle fiber predominance (HP:0003803)4.30489560
7Exercise-induced muscle cramps (HP:0003710)4.26629798
8Premature rupture of membranes (HP:0001788)4.23452609
9Recurrent bacterial skin infections (HP:0005406)3.91974614
10Ankle contracture (HP:0006466)3.86011005
11Recurrent abscess formation (HP:0002722)3.76039475
12Abnormality of macrophages (HP:0004311)3.74736785
13Ventricular tachycardia (HP:0004756)3.71283716
14Lipoatrophy (HP:0100578)3.68154566
15Cerebral aneurysm (HP:0004944)3.58591881
16Right ventricular cardiomyopathy (HP:0011663)3.57036580
17Orchitis (HP:0100796)3.49294586
18Shallow orbits (HP:0000586)3.45905805
19Abnormality of the calf musculature (HP:0001430)3.45607024
20Recurrent gram-negative bacterial infections (HP:0005420)3.45604362
21Atrial fibrillation (HP:0005110)3.30124002
22Myositis (HP:0100614)3.28219932
23Aortic dissection (HP:0002647)3.25149593
24Aortic aneurysm (HP:0004942)3.24243980
25Broad metatarsal (HP:0001783)3.21466909
26Retrobulbar optic neuritis (HP:0100654)3.20923640
27Optic neuritis (HP:0100653)3.20923640
28Mildly elevated creatine phosphokinase (HP:0008180)3.20874682
29Increased connective tissue (HP:0009025)3.13071954
30Myocardial infarction (HP:0001658)3.04022607
31Muscle fiber splitting (HP:0003555)3.02905303
32Primary atrial arrhythmia (HP:0001692)3.01693337
33Gastrointestinal infarctions (HP:0005244)2.98854152
34Abnormality of liposaccharide metabolism (HP:0010968)2.94802370
35Abnormality of glycosphingolipid metabolism (HP:0004343)2.94802370
36Abnormality of glycolipid metabolism (HP:0010969)2.94802370
37Supraventricular arrhythmia (HP:0005115)2.91936059
38Gingivitis (HP:0000230)2.91707242
39Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.88463953
40Short 4th metacarpal (HP:0010044)2.88463953
41Hyporeflexia of lower limbs (HP:0002600)2.87132722
42Supraventricular tachycardia (HP:0004755)2.85079079
43Asymmetry of the thorax (HP:0001555)2.83203531
44Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.79369610
45Calf muscle hypertrophy (HP:0008981)2.78305185
46Gingival bleeding (HP:0000225)2.74892092
47Spinal rigidity (HP:0003306)2.71483940
48Lymphangioma (HP:0100764)2.69427366
49Cervical subluxation (HP:0003308)2.68239086
50Asymmetric septal hypertrophy (HP:0001670)2.65651899
51Atrophic scars (HP:0001075)2.64419148
52Deep venous thrombosis (HP:0002625)2.62518535
53EMG: myopathic abnormalities (HP:0003458)2.62252491
54Ventricular arrhythmia (HP:0004308)2.62164190
55Spontaneous hematomas (HP:0007420)2.61012239
56Centrally nucleated skeletal muscle fibers (HP:0003687)2.59435823
57Dilated cardiomyopathy (HP:0001644)2.57214297
58Mitral valve prolapse (HP:0001634)2.54993316
59Aneurysm (HP:0002617)2.51662091
60Thin bony cortex (HP:0002753)2.50431433
61Dilatation of the ascending aorta (HP:0005111)2.49928547
62Hepatoblastoma (HP:0002884)2.48773409
63Recurrent skin infections (HP:0001581)2.46624528
64Patent foramen ovale (HP:0001655)2.46514522
65Scapular winging (HP:0003691)2.43695436
66T lymphocytopenia (HP:0005403)2.43360286
67Abnormality of the 4th metacarpal (HP:0010012)2.39481715
68Keratoconjunctivitis sicca (HP:0001097)2.38990483
69Arterial thrombosis (HP:0004420)2.37850915
70Wrist flexion contracture (HP:0001239)2.36342001
71Recurrent fungal infections (HP:0002841)2.35780893
72Bladder diverticulum (HP:0000015)2.33537359
73Fragile skin (HP:0001030)2.30566954
74Arterial tortuosity (HP:0005116)2.29341087
75Muscle hypertrophy of the lower extremities (HP:0008968)2.28614157
76Amyloidosis (HP:0011034)2.26483777
77Exercise-induced myalgia (HP:0003738)2.25750032
78Vertebral compression fractures (HP:0002953)2.24195020
79Abnormality of the peritoneum (HP:0002585)2.24116306
80Bicuspid aortic valve (HP:0001647)2.21256978
81Dysostosis multiplex (HP:0000943)2.20870300
82Mediastinal lymphadenopathy (HP:0100721)2.20562903
83Cellulitis (HP:0100658)2.20242705
84Soft skin (HP:0000977)2.19928056
85Syncope (HP:0001279)2.18138909
86Increased cerebral lipofuscin (HP:0011813)2.17862352
87Mitral stenosis (HP:0001718)2.17006184
88Blue sclerae (HP:0000592)2.15912970
89Abnormality of T cell number (HP:0011839)2.15869306
90Vascular tortuosity (HP:0004948)2.13729331
91Mesomelia (HP:0003027)2.11266751
92Cerebral inclusion bodies (HP:0100314)2.09642307
93Chronic obstructive pulmonary disease (HP:0006510)2.07551646
94Obstructive lung disease (HP:0006536)2.07551646
95Urinary glycosaminoglycan excretion (HP:0003541)2.07179530
96Mucopolysacchariduria (HP:0008155)2.07179530
97Hip contracture (HP:0003273)2.05653265
98Epistaxis (HP:0000421)2.04356376
99Abnormality of dentin (HP:0010299)2.04301999
100Keratoconjunctivitis (HP:0001096)2.04049311
101Loss of speech (HP:0002371)2.01836516
102Spinal cord lesions (HP:0100561)2.00412706
103Syringomyelia (HP:0003396)2.00412706
104Abnormality of polysaccharide metabolism (HP:0011012)1.99801092
105Abnormality of glycosaminoglycan metabolism (HP:0004371)1.99801092
106Abnormality of mucopolysaccharide metabolism (HP:0011020)1.99801092
107Abnormality of the common coagulation pathway (HP:0010990)1.99541429
108Myoglobinuria (HP:0002913)1.98952084
109Renal duplication (HP:0000075)1.98239868
110Flat acetabular roof (HP:0003180)1.97446654
111Slow saccadic eye movements (HP:0000514)1.97391269
112Prolonged QT interval (HP:0001657)1.95315445
113Difficulty climbing stairs (HP:0003551)1.95204899
114Periodontitis (HP:0000704)1.94821445
115Chest pain (HP:0100749)1.94017345
116Increased variability in muscle fiber diameter (HP:0003557)1.92673056
117Abnormal platelet volume (HP:0011876)1.91819157
118Hypoplastic ischia (HP:0003175)1.90530147
119Recurrent cutaneous fungal infections (HP:0011370)1.88628339
120Chronic mucocutaneous candidiasis (HP:0002728)1.88628339
121Wormian bones (HP:0002645)1.87796246
122Broad face (HP:0000283)1.87615913
123Wide anterior fontanel (HP:0000260)1.87139525
124Interstitial pulmonary disease (HP:0006530)1.86765235
125Urticaria (HP:0001025)1.86353629
126Difficulty running (HP:0009046)1.85609341
127Vasculitis (HP:0002633)1.83917560
128Overgrowth (HP:0001548)1.80908944
129Hemorrhage of the eye (HP:0011885)1.80496097
130Camptodactyly of toe (HP:0001836)1.79833857
131Meningitis (HP:0001287)1.79500028
132Prolonged bleeding time (HP:0003010)1.78669168
133Hemoptysis (HP:0002105)1.78576843
134Bundle branch block (HP:0011710)1.78095279
135Increased IgE level (HP:0003212)1.77574886
136Pulmonary embolism (HP:0002204)1.77396751
137Preauricular pit (HP:0004467)1.77009157
138Periauricular skin pits (HP:0100277)1.77009157
139Generalized amyotrophy (HP:0003700)1.77007730
140Follicular hyperkeratosis (HP:0007502)1.76932542
141Polycythemia (HP:0001901)1.76413321
142Spondylolisthesis (HP:0003302)1.76065648
143Abnormality of skeletal muscle fiber size (HP:0012084)1.75852901
144Long toe (HP:0010511)1.75096460
145Dislocated radial head (HP:0003083)1.75043536
146Esophageal varix (HP:0002040)1.73480760
147Pulmonary infiltrates (HP:0002113)1.73228563
148Generalized muscle weakness (HP:0003324)1.73120859
149Menorrhagia (HP:0000132)1.73021970
150Neurofibrillary tangles (HP:0002185)1.72243796
151Genu recurvatum (HP:0002816)1.71593524
152Systemic lupus erythematosus (HP:0002725)1.71498447
153Osteolytic defects of the hand bones (HP:0009699)1.71285063
154Osteolytic defects of the phalanges of the hand (HP:0009771)1.71285063
155Deviation of the hallux (HP:0010051)1.70872383
156Abnormality of the fingertips (HP:0001211)1.70381048
157Recurrent viral infections (HP:0004429)1.70254324
158Slender build (HP:0001533)1.69671107
159Segmental peripheral demyelination/remyelination (HP:0003481)1.69255235
160Double outlet right ventricle (HP:0001719)1.68871925
161Congenital malformation of the right heart (HP:0011723)1.68871925
162Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.67776135
163Atrioventricular block (HP:0001678)1.67722499
164Vacuolated lymphocytes (HP:0001922)1.67641608
165Rectal prolapse (HP:0002035)1.67192186
166Coarse hair (HP:0002208)1.66731329
167Diastasis recti (HP:0001540)1.66529310
168Palpitations (HP:0001962)1.65686792
169Buphthalmos (HP:0000557)1.65662057
170Exostoses (HP:0100777)1.65439987
171Abnormality of the ischium (HP:0003174)1.64960425
172Increased mean platelet volume (HP:0011877)1.64306615
173Neck muscle weakness (HP:0000467)1.64189175
174Abnormality of the endocardium (HP:0004306)1.63442283
175Mitral regurgitation (HP:0001653)1.63075942
176Pathologic fracture (HP:0002756)1.62964046
177Elevated erythrocyte sedimentation rate (HP:0003565)1.62859941
178Hypoplastic left heart (HP:0004383)1.62726845
179Rhabdomyolysis (HP:0003201)1.61807319
180Hallux valgus (HP:0001822)1.61689443
181Broad toe (HP:0001837)1.61676188
182Peritonitis (HP:0002586)1.61361515

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN4.71073196
2PKN24.63951410
3TTN3.38660540
4TRIB33.28322467
5RIPK42.89628721
6LATS12.82352976
7MYLK2.77216076
8STK242.70949676
9PRPF4B2.50738796
10STK38L2.40727848
11PDGFRA2.38521170
12BLK2.28286248
13TYK22.23780371
14ZAK2.22605959
15CSK2.14125490
16DMPK2.11542635
17EPHB12.06872685
18IRAK42.02635501
19STK31.92914991
20RIPK11.91596148
21MAP3K101.86307967
22MAP3K141.84877862
23DDR21.81047765
24SIK11.75216266
25PIK3CA1.69560540
26FLT31.69274677
27ZAP701.66508209
28KSR21.66217276
29FGR1.65291764
30JAK31.58124296
31PTK61.53861452
32MAP3K131.52310123
33IRAK31.51885276
34SMG11.50545734
35CDK121.47945063
36TIE11.47847784
37TRPM71.47643917
38MAP3K21.46766671
39MAP4K11.46411681
40PAK21.46084744
41ILK1.43306264
42LATS21.43288771
43EPHB21.36891796
44MAP3K11.34934557
45SCYL21.31202986
46NUAK11.25970313
47TAOK11.24991201
48NEK11.22255841
49CDC42BPA1.19992673
50FGFR11.18892699
51GRK61.17512571
52YES11.16541224
53LRRK21.15190107
54MAP3K61.13065284
55HCK1.10536058
56MARK21.09753763
57ROCK11.08978985
58SGK31.08562560
59PIK3CG1.08168571
60FES1.06763906
61JAK21.06515898
62MTOR1.04639764
63PTK21.02103615
64IKBKE1.02010422
65LMTK20.99947400
66TAOK20.98830659
67PAK40.97100799
68NEK90.96930384
69FER0.96194212
70TGFBR10.95889856
71TBK10.95439467
72IRAK10.93814721
73LIMK10.93009822
74PDGFRB0.92735877
75EEF2K0.92243947
76MAP3K30.91993794
77MET0.91707944
78AKT30.91677121
79PAK30.89972528
80PDPK10.89073039
81TESK10.88909424
82MATK0.88428450
83BTK0.85239742
84CAMK1G0.83135050
85TGFBR20.82545435
86MAP3K110.82252913
87IRAK20.81640144
88STK40.81012173
89PTK2B0.80035656
90PRKD20.79094013
91SGK20.76413094
92DAPK30.75855613
93SYK0.75438584
94STK380.74787409
95EPHA30.74593922
96PDK10.74286970
97FGFR40.74020223
98KSR10.71297108
99BMX0.70439593
100MOS0.70305768
101KDR0.70078661
102PDK30.68124807
103PDK40.68124807
104EPHA20.67122301
105LCK0.65649917
106FRK0.65443358
107FGFR30.65169258
108CSF1R0.63610779
109LYN0.62797428
110MAP3K50.61788985
111STK100.60119123
112CAMK1D0.58655389
113MELK0.57539976
114CDK40.56583434
115RAF10.55980192
116CDK60.55672678
117PRKD10.54221977
118MAP3K70.53744027
119MARK30.50781538
120RPS6KB20.49869992
121DYRK1B0.49828510
122TTK0.49566701
123MAPK70.47895415
124MAP3K80.47570430
125MAP2K30.47492344
126ITK0.46193432
127PRKCH0.45269111
128AKT20.43790327
129ERN10.42637241
130MAPK120.42602894
131NLK0.42556842
132ROCK20.41539321
133PRKD30.41277792
134PRKAA20.40983157
135PDK20.40553705
136HIPK20.40475374
137WNK10.39685208
138ICK0.36409445
139RET0.36033668
140RPS6KC10.35920047
141RPS6KL10.35920047
142PRKAA10.35604626
143NEK20.35091058
144PRKG20.35043322
145AURKB0.33972863
146JAK10.33283382
147BRSK20.33174497
148AKT10.30078308
149BRD40.29672112
150WNK40.28488817
151RPS6KA20.28411683
152ERBB20.27577952
153ALK0.27326633
154FGFR20.26709473
155RPS6KA60.26397760
156CHUK0.26392219
157EGFR0.26129478

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.97339666
2Dilated cardiomyopathy_Homo sapiens_hsa054143.78235734
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.25548205
4ECM-receptor interaction_Homo sapiens_hsa045122.97620252
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.85365996
6Focal adhesion_Homo sapiens_hsa045102.68352814
7Adherens junction_Homo sapiens_hsa045202.53154522
8Cardiac muscle contraction_Homo sapiens_hsa042602.48448750
9Osteoclast differentiation_Homo sapiens_hsa043802.28453724
10Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.17385653
11Other glycan degradation_Homo sapiens_hsa005112.15341034
12Leishmaniasis_Homo sapiens_hsa051402.11591267
13Proteoglycans in cancer_Homo sapiens_hsa052052.07552753
142-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.06123542
15Viral myocarditis_Homo sapiens_hsa054162.00212353
16Staphylococcus aureus infection_Homo sapiens_hsa051501.93593452
17Hippo signaling pathway_Homo sapiens_hsa043901.83763150
18Small cell lung cancer_Homo sapiens_hsa052221.83391079
19Tight junction_Homo sapiens_hsa045301.81540069
20Toll-like receptor signaling pathway_Homo sapiens_hsa046201.80754008
21B cell receptor signaling pathway_Homo sapiens_hsa046621.80235926
22Basal cell carcinoma_Homo sapiens_hsa052171.74427961
23Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.69778864
24TGF-beta signaling pathway_Homo sapiens_hsa043501.68651025
25Acute myeloid leukemia_Homo sapiens_hsa052211.68018361
26Protein digestion and absorption_Homo sapiens_hsa049741.66504441
27Central carbon metabolism in cancer_Homo sapiens_hsa052301.65370302
28Tuberculosis_Homo sapiens_hsa051521.61401666
29Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.59992180
30Amoebiasis_Homo sapiens_hsa051461.56311390
31MicroRNAs in cancer_Homo sapiens_hsa052061.51376726
32Carbon metabolism_Homo sapiens_hsa012001.47908438
33Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.46776660
34Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.46271807
35HIF-1 signaling pathway_Homo sapiens_hsa040661.43606220
36Glycosaminoglycan degradation_Homo sapiens_hsa005311.43467189
37Insulin resistance_Homo sapiens_hsa049311.43227279
38Leukocyte transendothelial migration_Homo sapiens_hsa046701.42319661
39Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.39510636
40NF-kappa B signaling pathway_Homo sapiens_hsa040641.37621103
41TNF signaling pathway_Homo sapiens_hsa046681.37000462
42Measles_Homo sapiens_hsa051621.36700358
43Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.31398030
44Complement and coagulation cascades_Homo sapiens_hsa046101.30978662
45Galactose metabolism_Homo sapiens_hsa000521.29784126
46NOD-like receptor signaling pathway_Homo sapiens_hsa046211.29151357
47* Lysosome_Homo sapiens_hsa041421.28242622
48Lysine degradation_Homo sapiens_hsa003101.27927249
49Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.24556760
50Influenza A_Homo sapiens_hsa051641.23230682
51VEGF signaling pathway_Homo sapiens_hsa043701.21688766
52Hedgehog signaling pathway_Homo sapiens_hsa043401.20843902
53T cell receptor signaling pathway_Homo sapiens_hsa046601.20183092
54Chemokine signaling pathway_Homo sapiens_hsa040621.19456042
55AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.19443145
56Prolactin signaling pathway_Homo sapiens_hsa049171.18650421
57Chronic myeloid leukemia_Homo sapiens_hsa052201.17712338
58Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.17666141
59Hepatitis C_Homo sapiens_hsa051601.17086023
60Bladder cancer_Homo sapiens_hsa052191.13275904
61Jak-STAT signaling pathway_Homo sapiens_hsa046301.12835928
62Endometrial cancer_Homo sapiens_hsa052131.10354501
63mTOR signaling pathway_Homo sapiens_hsa041501.09842240
64Phagosome_Homo sapiens_hsa041451.09389841
65Regulation of actin cytoskeleton_Homo sapiens_hsa048101.08471246
66Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.05924147
67cGMP-PKG signaling pathway_Homo sapiens_hsa040221.04462038
68PI3K-Akt signaling pathway_Homo sapiens_hsa041511.02692003
69Pertussis_Homo sapiens_hsa051331.01219499
70Starch and sucrose metabolism_Homo sapiens_hsa005000.99165165
71Biosynthesis of amino acids_Homo sapiens_hsa012300.98752945
72Fatty acid degradation_Homo sapiens_hsa000710.97884282
73RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.97173842
74HTLV-I infection_Homo sapiens_hsa051660.95909242
75Glucagon signaling pathway_Homo sapiens_hsa049220.92049719
76Salmonella infection_Homo sapiens_hsa051320.91650405
77Pathways in cancer_Homo sapiens_hsa052000.90456432
78Hematopoietic cell lineage_Homo sapiens_hsa046400.90105561
79Insulin signaling pathway_Homo sapiens_hsa049100.89043610
80Prostate cancer_Homo sapiens_hsa052150.88334776
81Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.87481847
82Thyroid hormone signaling pathway_Homo sapiens_hsa049190.87389721
83Cell cycle_Homo sapiens_hsa041100.86769735
84Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.85809278
85Dorso-ventral axis formation_Homo sapiens_hsa043200.85801902
86ErbB signaling pathway_Homo sapiens_hsa040120.83764832
87Shigellosis_Homo sapiens_hsa051310.81940348
88Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.81335474
89Phosphatidylinositol signaling system_Homo sapiens_hsa040700.80823376
90Phospholipase D signaling pathway_Homo sapiens_hsa040720.79971961
91GnRH signaling pathway_Homo sapiens_hsa049120.78865722
92AMPK signaling pathway_Homo sapiens_hsa041520.78744178
93Prion diseases_Homo sapiens_hsa050200.77235459
94Sphingolipid signaling pathway_Homo sapiens_hsa040710.77010971
95Notch signaling pathway_Homo sapiens_hsa043300.76559099
96Inositol phosphate metabolism_Homo sapiens_hsa005620.76435121
97Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.76309302
98Propanoate metabolism_Homo sapiens_hsa006400.75867294
99p53 signaling pathway_Homo sapiens_hsa041150.75644004
100Toxoplasmosis_Homo sapiens_hsa051450.74948572
101FoxO signaling pathway_Homo sapiens_hsa040680.74609922
102Choline metabolism in cancer_Homo sapiens_hsa052310.73928365
103Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.73793756
104Herpes simplex infection_Homo sapiens_hsa051680.72306184
105African trypanosomiasis_Homo sapiens_hsa051430.71835418
106Longevity regulating pathway - mammal_Homo sapiens_hsa042110.70218530
107Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.69063063
108Wnt signaling pathway_Homo sapiens_hsa043100.68789212
109Melanoma_Homo sapiens_hsa052180.68537105
110Pancreatic cancer_Homo sapiens_hsa052120.67863540
111Platelet activation_Homo sapiens_hsa046110.67551501
112Viral carcinogenesis_Homo sapiens_hsa052030.66374400
113Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.65557701
114Graft-versus-host disease_Homo sapiens_hsa053320.65387552
115Adipocytokine signaling pathway_Homo sapiens_hsa049200.65165180
116* Endocytosis_Homo sapiens_hsa041440.63588073
117Fatty acid metabolism_Homo sapiens_hsa012120.63216584
118Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.62374390
119Allograft rejection_Homo sapiens_hsa053300.59577031
120Colorectal cancer_Homo sapiens_hsa052100.58182733
121Rap1 signaling pathway_Homo sapiens_hsa040150.56188044
122Thyroid cancer_Homo sapiens_hsa052160.56151528
123Renal cell carcinoma_Homo sapiens_hsa052110.55962137
124Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.53569244
125Autoimmune thyroid disease_Homo sapiens_hsa053200.51486717
126Fatty acid biosynthesis_Homo sapiens_hsa000610.51354007
127Vascular smooth muscle contraction_Homo sapiens_hsa042700.49740434
128Glioma_Homo sapiens_hsa052140.48889242
129Malaria_Homo sapiens_hsa051440.48402852
130Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.48180938
131Type II diabetes mellitus_Homo sapiens_hsa049300.48083890
132Melanogenesis_Homo sapiens_hsa049160.48046822
133PPAR signaling pathway_Homo sapiens_hsa033200.47464518
134One carbon pool by folate_Homo sapiens_hsa006700.47282892
135Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.43814084
136Fructose and mannose metabolism_Homo sapiens_hsa000510.40445831
137Pyruvate metabolism_Homo sapiens_hsa006200.39062442
138Non-small cell lung cancer_Homo sapiens_hsa052230.38845599
139Renin-angiotensin system_Homo sapiens_hsa046140.35943030
140mRNA surveillance pathway_Homo sapiens_hsa030150.33072796
141Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.32430301
142RNA transport_Homo sapiens_hsa030130.32416248
143Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.30054169
144Neurotrophin signaling pathway_Homo sapiens_hsa047220.29904567
145Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.29731665
146Legionellosis_Homo sapiens_hsa051340.29385702
147Hepatitis B_Homo sapiens_hsa051610.27734510
148Apoptosis_Homo sapiens_hsa042100.26973132
149Antigen processing and presentation_Homo sapiens_hsa046120.22824689
150Estrogen signaling pathway_Homo sapiens_hsa049150.21415819
151Selenocompound metabolism_Homo sapiens_hsa004500.20635494

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