DYSF

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





Description: The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)7.37976328
2cardiac myofibril assembly (GO:0055003)6.58426361
3actin-myosin filament sliding (GO:0033275)6.22050234
4muscle filament sliding (GO:0030049)6.22050234
5negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.98405306
6myofibril assembly (GO:0030239)5.89932169
7modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.75061741
8positive regulation by organism of defense response of other organism involved in symbiotic interact5.75061741
9modulation by symbiont of host immune response (GO:0052553)5.75061741
10positive regulation by symbiont of host defense response (GO:0052509)5.75061741
11modulation by symbiont of host defense response (GO:0052031)5.75061741
12modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.75061741
13negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.57153947
14negative regulation of cell killing (GO:0031342)5.57153947
15* plasma membrane repair (GO:0001778)5.46458705
16antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.33356753
17negative regulation of potassium ion transmembrane transport (GO:1901380)5.30976201
18actin-mediated cell contraction (GO:0070252)5.26042428
19leukocyte migration involved in inflammatory response (GO:0002523)5.20325544
20positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.19812511
21detection of other organism (GO:0098543)5.16850771
22regulation of skeletal muscle contraction (GO:0014819)5.11738647
23bundle of His cell to Purkinje myocyte communication (GO:0086069)5.09487791
24positive regulation of gamma-delta T cell activation (GO:0046645)4.96219270
25neutrophil activation involved in immune response (GO:0002283)4.95012756
26actomyosin structure organization (GO:0031032)4.93212191
27cardiac muscle cell development (GO:0055013)4.86921652
28regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO4.83307720
29detection of molecule of bacterial origin (GO:0032490)4.78335028
30detection of bacterium (GO:0016045)4.77398758
31cardiac muscle contraction (GO:0060048)4.75217709
32vascular endothelial growth factor signaling pathway (GO:0038084)4.75149316
33leukocyte aggregation (GO:0070486)4.71506998
34regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.71288717
35macrophage activation involved in immune response (GO:0002281)4.69744497
36positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)4.64764230
37cardiac cell development (GO:0055006)4.61975902
38cellular extravasation (GO:0045123)4.61248772
39carnitine shuttle (GO:0006853)4.58969444
40heart trabecula formation (GO:0060347)4.58662772
41detection of external biotic stimulus (GO:0098581)4.57195710
42antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.50121117
43response to peptidoglycan (GO:0032494)4.44754094
44antigen processing and presentation of endogenous antigen (GO:0019883)4.36258166
45cardiac muscle tissue morphogenesis (GO:0055008)4.34340911
46ventricular cardiac muscle cell action potential (GO:0086005)4.32791569
47tricarboxylic acid cycle (GO:0006099)4.31719745
48regulation of actin filament-based movement (GO:1903115)4.29309939
49ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.25768384
50fatty acid transmembrane transport (GO:1902001)4.23468680
51actin filament-based movement (GO:0030048)4.17886924
52regulation of B cell receptor signaling pathway (GO:0050855)4.14468877
53regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)4.13514697
54regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.98707861
55detection of biotic stimulus (GO:0009595)3.98570474
56negative regulation of interleukin-12 production (GO:0032695)3.96886376
57striated muscle contraction (GO:0006941)3.96780356
58muscle tissue morphogenesis (GO:0060415)3.96375054
59antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.96079975
60response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.95682125
61response to host immune response (GO:0052572)3.95682125
62regulation of interferon-beta biosynthetic process (GO:0045357)3.94625330
63regulation of relaxation of muscle (GO:1901077)3.93765558
64neutrophil activation (GO:0042119)3.91891871
65regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.90866315
66macrophage activation (GO:0042116)3.87496157
67negative regulation of lymphocyte mediated immunity (GO:0002707)3.86866214
68adult heart development (GO:0007512)3.83196113
69respiratory burst (GO:0045730)3.79918018
70production of molecular mediator involved in inflammatory response (GO:0002532)3.78018297
71response to host (GO:0075136)3.74379821
72response to host defenses (GO:0052200)3.74379821
73response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.74379821
74microglial cell activation (GO:0001774)3.73970674
75cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.71941851
76sarcoplasmic reticulum calcium ion transport (GO:0070296)3.71307918
77cardiac muscle hypertrophy (GO:0003300)3.69959403
78regulation of gamma-delta T cell activation (GO:0046643)3.68789019
79regulation of striated muscle contraction (GO:0006942)3.68365040
80negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.67522207
81cell communication involved in cardiac conduction (GO:0086065)3.63519041
82retina vasculature morphogenesis in camera-type eye (GO:0061299)3.60654523
83response to interleukin-15 (GO:0070672)3.59459907
84cellular response to vascular endothelial growth factor stimulus (GO:0035924)3.57620699
85positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.57253847
86neutrophil mediated immunity (GO:0002446)3.53608005
87regulation of the force of heart contraction (GO:0002026)3.53486540
88granulocyte activation (GO:0036230)3.52505233
89regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.52306463
90striated muscle hypertrophy (GO:0014897)3.52238359
91regulation of sarcomere organization (GO:0060297)3.48840752
92germinal center formation (GO:0002467)3.45279331
93negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.44007626
94regulation of mast cell degranulation (GO:0043304)3.43906694
95positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.43746138
96regulation of tight junction assembly (GO:2000810)3.43373818
97lymph vessel development (GO:0001945)3.41845384
98response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.38069778
99carnitine transmembrane transport (GO:1902603)3.37865591
100negative regulation of leukocyte mediated immunity (GO:0002704)3.37560553
101basement membrane organization (GO:0071711)3.34731821
102regulation of cell communication by electrical coupling (GO:0010649)3.34079702
103regulation of myeloid leukocyte mediated immunity (GO:0002886)3.32106199
104myeloid cell activation involved in immune response (GO:0002275)3.30875082
105trabecula formation (GO:0060343)3.29407441
106regulation of T-helper 2 cell differentiation (GO:0045628)3.27583625
107cell migration involved in sprouting angiogenesis (GO:0002042)3.27557951
108regulation of membrane repolarization (GO:0060306)3.25175731
109regulation of sequestering of triglyceride (GO:0010889)3.25067950
110cell communication by electrical coupling (GO:0010644)3.25059052
111epithelial cell-cell adhesion (GO:0090136)3.24907936
112regulation of cardioblast differentiation (GO:0051890)3.23366748
113regulation of gamma-delta T cell differentiation (GO:0045586)3.22310751
114positive regulation of myotube differentiation (GO:0010831)3.21799826
115response to muramyl dipeptide (GO:0032495)3.21689545
116regulation of nitric-oxide synthase biosynthetic process (GO:0051769)3.20332184
117negative regulation of erythrocyte differentiation (GO:0045647)3.17708503
118regulation of leukocyte degranulation (GO:0043300)3.16722651
119negative regulation of potassium ion transport (GO:0043267)3.15080996
120negative regulation of T-helper cell differentiation (GO:0045623)3.15041151
121negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.15041151
122muscle contraction (GO:0006936)3.14395469
123regulation of mast cell activation involved in immune response (GO:0033006)3.14138531
124immunoglobulin mediated immune response (GO:0016064)3.13545756
125skeletal muscle contraction (GO:0003009)3.13385519
126carnitine transport (GO:0015879)3.12064935
127amino-acid betaine transport (GO:0015838)3.12064935
128negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.11199434
129regulation of acyl-CoA biosynthetic process (GO:0050812)3.10202161
130negative regulation of T cell mediated immunity (GO:0002710)3.09887381
131striated muscle cell development (GO:0055002)3.09829954
132regulation of p38MAPK cascade (GO:1900744)3.09028977
133cellular response to interleukin-15 (GO:0071350)3.07903321
134cardiac muscle cell action potential (GO:0086001)3.07192791
135regulation of fatty acid oxidation (GO:0046320)3.06982116
136cardiac muscle cell action potential involved in contraction (GO:0086002)3.05937983
137regulation of cardiac muscle contraction (GO:0055117)3.04927195
138vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.04177923
139antigen processing and presentation via MHC class Ib (GO:0002475)3.03789594
140muscle hypertrophy (GO:0014896)3.03750586
141cell-substrate junction assembly (GO:0007044)3.03235177
142neutrophil chemotaxis (GO:0030593)3.02526210
143negative regulation of cell size (GO:0045792)3.01538136
144myeloid leukocyte mediated immunity (GO:0002444)2.99690780
145glomerular filtration (GO:0003094)2.99522823
146NADH metabolic process (GO:0006734)2.99147117
147renal filtration (GO:0097205)2.98937044
148B cell receptor signaling pathway (GO:0050853)2.98194168
149regulation of cardiac muscle cell contraction (GO:0086004)2.97477372
150regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.95629632
151negative regulation of striated muscle cell apoptotic process (GO:0010664)2.94976151
152neutrophil migration (GO:1990266)2.94404143
153lymphangiogenesis (GO:0001946)2.93240296
154regulation of heart rate (GO:0002027)2.91740259
155positive regulation of mast cell activation (GO:0033005)2.91681110
156muscle system process (GO:0003012)2.90002972
157adherens junction assembly (GO:0034333)2.89675823
158response to inactivity (GO:0014854)2.87937049
159blood vessel endothelial cell migration (GO:0043534)2.85707729
160regulation of macrophage cytokine production (GO:0010935)2.85640873
161lipopolysaccharide-mediated signaling pathway (GO:0031663)2.85084145
162regulation of mast cell activation (GO:0033003)2.83475800
163endothelium development (GO:0003158)2.83353689
164venous blood vessel morphogenesis (GO:0048845)2.82747431
165regulation of cofactor metabolic process (GO:0051193)2.82746975
166regulation of coenzyme metabolic process (GO:0051196)2.82746975
1672-oxoglutarate metabolic process (GO:0006103)2.82330791
168regulation of regulated secretory pathway (GO:1903305)2.80656027
169regulation of necroptotic process (GO:0060544)2.80546913
170cellular response to type I interferon (GO:0071357)2.80286219
171type I interferon signaling pathway (GO:0060337)2.80286219
172focal adhesion assembly (GO:0048041)2.80200446
173cell-substrate adherens junction assembly (GO:0007045)2.80200446
174leukocyte degranulation (GO:0043299)2.79918882
175positive regulation of heart contraction (GO:0045823)2.79623497
176ventricular cardiac muscle cell development (GO:0055015)2.77920420
177positive regulation of cellular amide metabolic process (GO:0034250)2.77635756
178response to type I interferon (GO:0034340)2.77472412
179negative regulation of type 2 immune response (GO:0002829)2.77058703
180glomerular basement membrane development (GO:0032836)2.76503694
181muscle cell development (GO:0055001)2.76395975
182regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.75366759
183positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.74038732
184regulation of dendritic cell antigen processing and presentation (GO:0002604)2.72698400
185regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.72323896
186regulation of tolerance induction (GO:0002643)2.71185516
187myeloid leukocyte activation (GO:0002274)2.70256398
188negative regulation of interleukin-6 production (GO:0032715)2.70227951
189negative regulation of phagocytosis (GO:0050765)2.65633070
190dendritic cell migration (GO:0036336)2.64624306
191regulation of T cell tolerance induction (GO:0002664)2.62522458
192negative regulation of cytokine production involved in immune response (GO:0002719)2.62508220
193negative regulation of adaptive immune response based on somatic recombination of immune receptors b2.61665414
194defense response to protozoan (GO:0042832)2.60051031
195regulation of B cell differentiation (GO:0045577)2.58465393
196negative regulation of toll-like receptor signaling pathway (GO:0034122)2.57944681
197negative regulation of innate immune response (GO:0045824)2.56768433
198positive regulation of mast cell activation involved in immune response (GO:0033008)2.55846312
199positive regulation of mast cell degranulation (GO:0043306)2.55846312
200regulation of platelet aggregation (GO:0090330)2.53860456

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.70755305
2RARG_19884340_ChIP-ChIP_MEFs_Mouse4.05792998
3IRF8_22096565_ChIP-ChIP_GC-B_Human3.86871538
4TRIM28_21343339_ChIP-Seq_HEK293_Human3.77955114
5EP300_21415370_ChIP-Seq_HL-1_Mouse3.53177910
6TP63_17297297_ChIP-ChIP_HaCaT_Human3.21792957
7MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.18091446
8TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.17881350
9CLOCK_20551151_ChIP-Seq_293T_Human3.16764405
10STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.10974256
11ZNF263_19887448_ChIP-Seq_K562_Human3.03482831
12IRF8_21731497_ChIP-ChIP_J774_Mouse3.02126035
13TBX20_22080862_ChIP-Seq_HEART_Mouse2.99449199
14TBX20_22328084_ChIP-Seq_HEART_Mouse2.99449199
15SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.91304958
16FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.77247165
17IRF8_27001747_Chip-Seq_BMDM_Mouse2.74280787
18MYB_21317192_ChIP-Seq_ERMYB_Mouse2.70739740
19SPI1_23127762_ChIP-Seq_K562_Human2.54401191
20NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.53683624
21ESR2_21235772_ChIP-Seq_MCF-7_Human2.46606050
22VDR_24763502_ChIP-Seq_THP-1_Human2.42584321
23VDR_21846776_ChIP-Seq_THP-1_Human2.41076422
24NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.38904873
25ESR1_20079471_ChIP-ChIP_T-47D_Human2.37214459
26RUNX_20019798_ChIP-Seq_JUKART_Human2.36379858
27TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.36260734
28RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.21914680
29* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.20932536
30SMAD_19615063_ChIP-ChIP_OVARY_Human2.19819754
31* MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.14439997
32STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.12147992
33NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.11963523
34SCL_19346495_ChIP-Seq_HPC-7_Human2.11164135
35ELK3_25401928_ChIP-Seq_HUVEC_Human2.09141833
36TCF7_22412390_ChIP-Seq_EML_Mouse2.09002840
37SPI1_23547873_ChIP-Seq_NB4_Human2.08896546
38BRD4_27068464_Chip-Seq_AML-cells_Mouse2.04627514
39IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.03106236
40ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.02133471
41MAF_26560356_Chip-Seq_TH1_Human2.00958477
42Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.99516839
43RUNX1_22412390_ChIP-Seq_EML_Mouse1.96995772
44* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.96122470
45FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.92419601
46VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.87480593
47ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.83709076
48PPAR_26484153_Chip-Seq_NCI-H1993_Human1.83050717
49HIF1A_21447827_ChIP-Seq_MCF-7_Human1.82732832
50E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.82630274
51* GATA2_21666600_ChIP-Seq_HMVEC_Human1.81472510
52KDM2B_26808549_Chip-Seq_SUP-B15_Human1.81051645
53GATA1_19941827_ChIP-Seq_MEL_Mouse1.78600195
54* NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.78554043
55PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.78113188
56ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.77121382
57CDX2_19796622_ChIP-Seq_MESCs_Mouse1.76549330
58ESR1_21235772_ChIP-Seq_MCF-7_Human1.76023812
59THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.72690696
60UTX_26944678_Chip-Seq_JUKART_Human1.71960563
61IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.71290265
62EGR1_19374776_ChIP-ChIP_THP-1_Human1.68967447
63STAT4_19710469_ChIP-ChIP_TH1__Mouse1.66599544
64* VDR_24787735_ChIP-Seq_THP-1_Human1.66200768
65SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.62638345
66LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.58768246
67MYB_26560356_Chip-Seq_TH2_Human1.58038263
68CJUN_26792858_Chip-Seq_BT549_Human1.57612349
69MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.55409290
70TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.55209488
71RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.55207812
72KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.54869117
73TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.54433773
74RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.54212531
75SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.54184283
76MYC_22102868_ChIP-Seq_BL_Human1.53482098
77RACK7_27058665_Chip-Seq_MCF-7_Human1.52028584
78ATF3_27146783_Chip-Seq_COLON_Human1.49461423
79SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.46576205
80CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.45663812
81MYB_26560356_Chip-Seq_TH1_Human1.41277117
82NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.40975508
83* LXR_22158963_ChIP-Seq_LIVER_Mouse1.40347995
84NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.40267576
85PPARA_22158963_ChIP-Seq_LIVER_Mouse1.40258105
86P300_27058665_Chip-Seq_ZR-75-30cells_Human1.39867171
87* GATA4_21415370_ChIP-Seq_HL-1_Mouse1.38561743
88KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.38216555
89KDM2B_26808549_Chip-Seq_DND41_Human1.37885964
90WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.37403357
91TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.36645404
92BP1_19119308_ChIP-ChIP_Hs578T_Human1.36535645
93MAF_26560356_Chip-Seq_TH2_Human1.35518313
94ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.35382587
95PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.33629991
96LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.33293839
97CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.32584632
98WT1_19549856_ChIP-ChIP_CCG9911_Human1.32491307
99GATA1_22025678_ChIP-Seq_K562_Human1.31602467
100SOX9_24532713_ChIP-Seq_HFSC_Mouse1.29957181
101LXR_22292898_ChIP-Seq_THP-1_Human1.29364526
102RXR_22158963_ChIP-Seq_LIVER_Mouse1.29072509
103* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.28358206
104ZFP281_18757296_ChIP-ChIP_E14_Mouse1.27241759
105FOXO3_23340844_ChIP-Seq_DLD1_Human1.27179518
106KDM2B_26808549_Chip-Seq_JURKAT_Human1.26944296
107PU_27001747_Chip-Seq_BMDM_Mouse1.25993157
108ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.24350065
109* KDM2B_26808549_Chip-Seq_K562_Human1.24083788
110GATA2_22383799_ChIP-Seq_G1ME_Mouse1.23766813
111GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.21632529
112SALL4_18804426_ChIP-ChIP_XEN_Mouse1.21228267
113* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.21020494
114GATA1_22383799_ChIP-Seq_G1ME_Mouse1.20161958
115UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.20012978
116CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.18331653
117PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.17979197
118PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.17571916
119PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.16714267
120GATA3_27048872_Chip-Seq_THYMUS_Human1.16660970
121SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.16322970
122STAT6_21828071_ChIP-Seq_BEAS2B_Human1.15971400
123ISL1_27105846_Chip-Seq_CPCs_Mouse1.14153188
124* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13998636
125GATA2_19941826_ChIP-Seq_K562_Human1.13816479
126BRD4_25478319_ChIP-Seq_HGPS_Human1.12989135
127RUNX1_27514584_Chip-Seq_MCF-7_Human1.12513220
128SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.12386679
129NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.11039696
130SMC1_22415368_ChIP-Seq_MEFs_Mouse1.10603236
131FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.10466414
132SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.10193765
133SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.10193765
134JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.09065681
135CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.07886476
136SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.07831996
137GATA1_19941826_ChIP-Seq_K562_Human1.06880414
138STAT3_1855785_ChIP-Seq_MESCs_Mouse1.06505723
139UBF1/2_26484160_Chip-Seq_HMECs_Human1.06091653
140JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.06040955
141KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.05209342
142PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.04560205
143* TP53_23651856_ChIP-Seq_MEFs_Mouse1.03979117
144TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.03911464
145BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.03056012
146FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.02969539
147TP53_22127205_ChIP-Seq_IMR90_Human1.02369012
148SMC3_22415368_ChIP-Seq_MEFs_Mouse1.01796588
149KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.01469022
150* TP63_22573176_ChIP-Seq_HFKS_Human1.00703081
151DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.00068184
152CTCF_27219007_Chip-Seq_ERYTHROID_Human0.99458188
153STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.98600193
154CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.96001748
155FOXA2_19822575_ChIP-Seq_HepG2_Human0.95999831
156GATA1_19941827_ChIP-Seq_MEL86_Mouse0.95697243
157NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.94414203
158CTCF_27219007_Chip-Seq_Bcells_Human0.92484298
159PU.1_20513432_ChIP-Seq_Bcells_Mouse0.92317625
160* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.91334871
161ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.90846126
162* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.90691479
163* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.87843315
164P63_26484246_Chip-Seq_KERATINOCYTES_Human0.87099223
165NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.86654075
166NRF2_20460467_ChIP-Seq_MEFs_Mouse0.86654075
167SPI1_20517297_ChIP-Seq_HL60_Human0.86305416
168NFIB_24661679_ChIP-Seq_LUNG_Mouse0.85836201
169PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.85800117
170TP53_20018659_ChIP-ChIP_R1E_Mouse0.85301075
171NCOR1_26117541_ChIP-Seq_K562_Human0.84532820
172BCL6_27268052_Chip-Seq_Bcells_Human0.80298085

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003724_increased_susceptibility_to5.16764949
2MP0002837_dystrophic_cardiac_calcinosis5.05088320
3MP0004084_abnormal_cardiac_muscle4.89447502
4MP0000751_myopathy4.54684731
5MP0003303_peritoneal_inflammation3.98332337
6MP0003436_decreased_susceptibility_to3.64705288
7MP0004215_abnormal_myocardial_fiber3.59598598
8MP0003646_muscle_fatigue3.51009645
9MP0004036_abnormal_muscle_relaxation3.49439264
10MP0005330_cardiomyopathy3.16906093
11* MP0000749_muscle_degeneration3.05141054
12MP0010368_abnormal_lymphatic_system2.93599951
13MP0008438_abnormal_cutaneous_collagen2.89527988
14MP0002419_abnormal_innate_immunity2.84987624
15MP0004272_abnormal_basement_membrane2.79485458
16MP0005451_abnormal_body_composition2.79230076
17* MP0004087_abnormal_muscle_fiber2.77039508
18MP0001835_abnormal_antigen_presentation2.74529758
19MP0003191_abnormal_cellular_cholesterol2.55741211
20MP0008775_abnormal_heart_ventricle2.54644927
21MP0003705_abnormal_hypodermis_morpholog2.53639071
22MP0002972_abnormal_cardiac_muscle2.52796564
23MP0008260_abnormal_autophagy2.51339381
24* MP0000750_abnormal_muscle_regeneration2.50495279
25MP0003300_gastrointestinal_ulcer2.50009543
26MP0005025_abnormal_response_to2.42763834
27MP0003279_aneurysm2.42426307
28MP0005620_abnormal_muscle_contractility2.36364113
29MP0009785_altered_susceptibility_to2.35704218
30MP0004145_abnormal_muscle_electrophysio2.34197560
31MP0010630_abnormal_cardiac_muscle2.34096172
32MP0006138_congestive_heart_failure2.31510097
33MP0004130_abnormal_muscle_cell2.28613090
34MP0001544_abnormal_cardiovascular_syste2.23875696
35MP0005385_cardiovascular_system_phenoty2.23875696
36MP0003828_pulmonary_edema2.23472591
37MP0000685_abnormal_immune_system2.22080848
38* MP0002106_abnormal_muscle_physiology2.14138638
39MP0005000_abnormal_immune_tolerance2.13605665
40MP0001790_abnormal_immune_system2.12858515
41MP0005387_immune_system_phenotype2.12858515
42MP0005623_abnormal_meninges_morphology2.07912295
43MP0001800_abnormal_humoral_immune2.06483218
44MP0000465_gastrointestinal_hemorrhage2.03609973
45MP0001879_abnormal_lymphatic_vessel2.00673449
46MP0001533_abnormal_skeleton_physiology1.99086079
47MP0006082_CNS_inflammation1.98759222
48MP0002420_abnormal_adaptive_immunity1.97517384
49MP0001819_abnormal_immune_cell1.95457676
50MP0004484_altered_response_of1.95272646
51MP0002723_abnormal_immune_serum1.94214575
52MP0005670_abnormal_white_adipose1.94112990
53MP0005275_abnormal_skin_tensile1.93401180
54MP0003137_abnormal_impulse_conducting1.93326459
55* MP0000759_abnormal_skeletal_muscle1.92916661
56MP0005464_abnormal_platelet_physiology1.91818782
57* MP0002269_muscular_atrophy1.88287284
58MP0003566_abnormal_cell_adhesion1.87528316
59MP0002452_abnormal_antigen_presenting1.86863401
60* MP0005369_muscle_phenotype1.80501379
61MP0005671_abnormal_response_to1.77692623
62MP0000013_abnormal_adipose_tissue1.72918779
63* MP0000747_muscle_weakness1.69674791
64MP0005666_abnormal_adipose_tissue1.62941376
65MP0002132_abnormal_respiratory_system1.61084419
66MP0003950_abnormal_plasma_membrane1.61029221
67MP0004085_abnormal_heartbeat1.60288634
68MP0002148_abnormal_hypersensitivity_rea1.58619734
69MP0002405_respiratory_system_inflammati1.56684855
70MP0009278_abnormal_bone_marrow1.56147775
71MP0004233_abnormal_muscle_weight1.55408823
72MP0003172_abnormal_lysosome_physiology1.54956305
73MP0002127_abnormal_cardiovascular_syste1.54420660
74MP0000733_abnormal_muscle_development1.49637410
75MP0004947_skin_inflammation1.43289894
76MP0002398_abnormal_bone_marrow1.41864309
77MP0000716_abnormal_immune_system1.41177233
78MP0003075_altered_response_to1.39501280
79MP0004883_abnormal_blood_vessel1.38653314
80MP0003763_abnormal_thymus_physiology1.37598520
81MP0010155_abnormal_intestine_physiology1.37422479
82MP0002332_abnormal_exercise_endurance1.37249963
83MP0004510_myositis1.37196032
84MP0005375_adipose_tissue_phenotype1.36679632
85MP0003221_abnormal_cardiomyocyte_apopto1.36416910
86MP0004185_abnormal_adipocyte_glucose1.35618905
87MP0001845_abnormal_inflammatory_respons1.33596480
88MP0002108_abnormal_muscle_morphology1.32669767
89MP0001851_eye_inflammation1.26157483
90MP0000767_abnormal_smooth_muscle1.25969306
91MP0009764_decreased_sensitivity_to1.24522349
92MP0002396_abnormal_hematopoietic_system1.23967004
93MP0004381_abnormal_hair_follicle1.23945385
94MP0000003_abnormal_adipose_tissue1.23182838
95MP0003183_abnormal_peptide_metabolism1.22185443
96MP0000858_altered_metastatic_potential1.21840670
97MP0002998_abnormal_bone_remodeling1.20785374
98MP0000266_abnormal_heart_morphology1.19950112
99MP0002722_abnormal_immune_system1.17270471
100MP0002128_abnormal_blood_circulation1.16765563
101MP0005503_abnormal_tendon_morphology1.16667925
102MP0005164_abnormal_response_to1.15843483
103MP0003567_abnormal_fetal_cardiomyocyte1.15606141
104MP0001545_abnormal_hematopoietic_system1.13839422
105MP0005397_hematopoietic_system_phenotyp1.13839422
106MP0001958_emphysema1.12848385
107MP0000689_abnormal_spleen_morphology1.12097948
108MP0002429_abnormal_blood_cell1.12056941
109MP0005165_increased_susceptibility_to1.11489275
110MP0005166_decreased_susceptibility_to1.10264695
111* MP0008469_abnormal_protein_level1.09307920
112MP0000343_altered_response_to1.09211625
113MP0003866_abnormal_defecation1.07799842
114MP0005167_abnormal_blood-brain_barrier1.07132042
115MP0003656_abnormal_erythrocyte_physiolo1.07110359
116MP0003690_abnormal_glial_cell1.05298487
117MP0002138_abnormal_hepatobiliary_system1.04062921
118MP0003045_fibrosis1.01193951
119MP0003091_abnormal_cell_migration0.99855968
120MP0002277_abnormal_respiratory_mucosa0.98440080
121MP0005058_abnormal_lysosome_morphology0.97819822
122MP0000703_abnormal_thymus_morphology0.96788531
123MP0008004_abnormal_stomach_pH0.93290398
124MP0002925_abnormal_cardiovascular_devel0.90399010
125MP0002295_abnormal_pulmonary_circulatio0.88732768
126MP0006054_spinal_hemorrhage0.87729416
127MP0009333_abnormal_splenocyte_physiolog0.84119726
128MP0003448_altered_tumor_morphology0.83579202
129MP0001614_abnormal_blood_vessel0.83179929
130MP0005409_darkened_coat_color0.82421986
131MP0002933_joint_inflammation0.81796084
132MP0002166_altered_tumor_susceptibility0.79943741
133MP0005390_skeleton_phenotype0.79079077
134MP0006036_abnormal_mitochondrial_physio0.76022222
135MP0002971_abnormal_brown_adipose0.74754284
136MP0010352_gastrointestinal_tract_polyps0.74455920
137MP0009780_abnormal_chondrocyte_physiolo0.74281883
138MP0005023_abnormal_wound_healing0.72226827
139MP0009384_cardiac_valve_regurgitation0.72064448
140MP0000230_abnormal_systemic_arterial0.71319894
141MP0002234_abnormal_pharynx_morphology0.70079983
142MP0002896_abnormal_bone_mineralization0.69594434
143MP0005595_abnormal_vascular_smooth0.65893217
144MP0003984_embryonic_growth_retardation0.65456550
145MP0003941_abnormal_skin_development0.65342082
146MP0002088_abnormal_embryonic_growth/wei0.64192411
147MP0001784_abnormal_fluid_regulation0.59926967
148MP0002877_abnormal_melanocyte_morpholog0.59675108
149MP0003385_abnormal_body_wall0.59605098
150MP0005187_abnormal_penis_morphology0.54643790
151MP0000249_abnormal_blood_vessel0.54434937
152MP0005508_abnormal_skeleton_morphology0.51661605
153MP0005266_abnormal_metabolism0.48310260
154MP0002168_other_aberrant_phenotype0.46861968
155MP0001299_abnormal_eye_distance/0.45820394
156MP0001672_abnormal_embryogenesis/_devel0.43566358
157MP0005380_embryogenesis_phenotype0.43566358
158MP0009115_abnormal_fat_cell0.43179238
159MP0010030_abnormal_orbit_morphology0.42644535
160MP0002060_abnormal_skin_morphology0.42474497
161MP0008961_abnormal_basal_metabolism0.40307766
162MP0003935_abnormal_craniofacial_develop0.38896294
163MP0004858_abnormal_nervous_system0.38566731
164MP0002086_abnormal_extraembryonic_tissu0.37858734
165MP0001727_abnormal_embryo_implantation0.37831233
166MP0001915_intracranial_hemorrhage0.37627116
167MP0003948_abnormal_gas_homeostasis0.37422715

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)6.49859897
2Eczematoid dermatitis (HP:0000976)5.94993975
3Ventricular tachycardia (HP:0004756)5.42802569
4* Muscle fiber splitting (HP:0003555)5.16658982
5Recurrent abscess formation (HP:0002722)5.14866506
6Recurrent bacterial skin infections (HP:0005406)4.94221789
7Myositis (HP:0100614)4.90987419
8Calf muscle hypertrophy (HP:0008981)4.90203212
9Right ventricular cardiomyopathy (HP:0011663)4.78332629
10Orchitis (HP:0100796)4.69356364
11Exercise-induced muscle cramps (HP:0003710)4.67849164
12Exercise-induced myalgia (HP:0003738)4.64195681
13Abnormality of the calf musculature (HP:0001430)4.60681602
14Abnormality of macrophages (HP:0004311)4.57187468
15Recurrent gram-negative bacterial infections (HP:0005420)4.51904418
16Muscle hypertrophy of the lower extremities (HP:0008968)4.49972459
17Atrial fibrillation (HP:0005110)4.49459820
18* Hyporeflexia of lower limbs (HP:0002600)4.48515055
19Lipoatrophy (HP:0100578)4.36509617
20Retrobulbar optic neuritis (HP:0100654)4.30344075
21Optic neuritis (HP:0100653)4.30344075
22Spontaneous hematomas (HP:0007420)4.22647144
23Type 1 muscle fiber predominance (HP:0003803)4.22485180
24Primary atrial arrhythmia (HP:0001692)4.19344776
25Supraventricular arrhythmia (HP:0005115)4.09490576
26Supraventricular tachycardia (HP:0004755)4.01445843
27Protrusio acetabuli (HP:0003179)3.99323240
28* Increased connective tissue (HP:0009025)3.94763396
29Subaortic stenosis (HP:0001682)3.81300953
30Abnormality of the left ventricular outflow tract (HP:0011103)3.81300953
31Stomatitis (HP:0010280)3.79364928
32Gastrointestinal infarctions (HP:0005244)3.74146972
33Myoglobinuria (HP:0002913)3.67765934
34Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.60630601
35Myotonia (HP:0002486)3.58766183
36* EMG: myopathic abnormalities (HP:0003458)3.57165504
37Muscle fiber inclusion bodies (HP:0100299)3.50441423
38Hypochromic microcytic anemia (HP:0004840)3.49125359
39Premature rupture of membranes (HP:0001788)3.47733236
40Dilated cardiomyopathy (HP:0001644)3.46667959
41Bundle branch block (HP:0011710)3.45055196
42Elevated erythrocyte sedimentation rate (HP:0003565)3.44145042
43Syncope (HP:0001279)3.42741696
44Obstructive lung disease (HP:0006536)3.36458639
45Chronic obstructive pulmonary disease (HP:0006510)3.36458639
46Gingivitis (HP:0000230)3.34209538
47Keratoconjunctivitis sicca (HP:0001097)3.24592579
48* Difficulty climbing stairs (HP:0003551)3.22633756
49Asymmetric septal hypertrophy (HP:0001670)3.22295356
50Recurrent fungal infections (HP:0002841)3.20118519
51Peritonitis (HP:0002586)3.19654073
52* Difficulty running (HP:0009046)3.19618407
53Prolonged bleeding time (HP:0003010)3.18988601
54Atrioventricular block (HP:0001678)3.17451928
55Prolonged QT interval (HP:0001657)3.15232304
56Mediastinal lymphadenopathy (HP:0100721)3.15182624
57Palpitations (HP:0001962)3.14776185
58Broad metatarsal (HP:0001783)3.14545984
59Round ear (HP:0100830)3.13934898
60Recurrent skin infections (HP:0001581)3.11030677
61Ventricular arrhythmia (HP:0004308)3.05175394
62Chest pain (HP:0100749)3.04857357
63Meningitis (HP:0001287)3.04181806
64Cerebral aneurysm (HP:0004944)2.98655198
65Heart block (HP:0012722)2.98170796
66Mildly elevated creatine phosphokinase (HP:0008180)2.98011418
67Abnormal atrioventricular conduction (HP:0005150)2.96832480
68Cellulitis (HP:0100658)2.96132607
69Increased IgE level (HP:0003212)2.94904035
70Spinal rigidity (HP:0003306)2.94690180
71Keratoconjunctivitis (HP:0001096)2.93902182
72Abnormal delayed hypersensitivity skin test (HP:0002963)2.93885825
73Distal arthrogryposis (HP:0005684)2.91930290
74Rhabdomyolysis (HP:0003201)2.88771496
75Urticaria (HP:0001025)2.84635743
76Episodic fever (HP:0001954)2.77788163
77Hypochromic anemia (HP:0001931)2.77327378
78Nemaline bodies (HP:0003798)2.75158482
79Distal lower limb muscle weakness (HP:0009053)2.75137789
80Epistaxis (HP:0000421)2.69873777
81Amyloidosis (HP:0011034)2.69389935
82Hypoplastic ischia (HP:0003175)2.68018402
83Encephalitis (HP:0002383)2.67409782
84Hemoptysis (HP:0002105)2.64036672
85Distal lower limb amyotrophy (HP:0008944)2.63681744
86Arterial thrombosis (HP:0004420)2.62956768
87Gingival bleeding (HP:0000225)2.62923060
88Hip contracture (HP:0003273)2.62370045
89Chronic mucocutaneous candidiasis (HP:0002728)2.59733713
90Recurrent cutaneous fungal infections (HP:0011370)2.59733713
91Vasculitis (HP:0002633)2.59041863
92Ventricular fibrillation (HP:0001663)2.55138463
93* Increased variability in muscle fiber diameter (HP:0003557)2.54454448
94Scapular winging (HP:0003691)2.53047116
95Ankle contracture (HP:0006466)2.51634339
96Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.49192926
97* Abnormality of skeletal muscle fiber size (HP:0012084)2.49039932
98Microcytic anemia (HP:0001935)2.43209597
99Abnormality of the ischium (HP:0003174)2.42012338
100Pulmonary embolism (HP:0002204)2.36017487
101Wrist flexion contracture (HP:0001239)2.35262177
102Neck muscle weakness (HP:0000467)2.34598443
103Muscle stiffness (HP:0003552)2.34010104
104Abnormal platelet volume (HP:0011876)2.31746852
105Lymphangioma (HP:0100764)2.30288715
106Generalized muscle weakness (HP:0003324)2.27548777
107Abnormality of the peritoneum (HP:0002585)2.27226175
108Anorexia (HP:0002039)2.26855195
109Limb-girdle muscle atrophy (HP:0003797)2.26792431
110Gowers sign (HP:0003391)2.24102652
111Shallow orbits (HP:0000586)2.21187770
112Facial diplegia (HP:0001349)2.20325583
113Pulmonary infiltrates (HP:0002113)2.19692297
114Aneurysm (HP:0002617)2.19217912
115Leukocytosis (HP:0001974)2.18158364
116Metaphyseal cupping (HP:0003021)2.16670826
117Osteomyelitis (HP:0002754)2.16093366
118Abnormality of the endocardium (HP:0004306)2.12334497
119Aortic dissection (HP:0002647)2.11958861
120Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.10761554
121EMG: neuropathic changes (HP:0003445)2.09859479
122Abnormal EKG (HP:0003115)2.08555855
123Inflammation of the large intestine (HP:0002037)2.06593875
124Ulnar deviation of the wrist (HP:0003049)2.06481064
125Testicular atrophy (HP:0000029)2.06407814
126Limited hip movement (HP:0008800)2.03007959
127T lymphocytopenia (HP:0005403)2.01171835
128Toxemia of pregnancy (HP:0100603)2.00901853
129Hematochezia (HP:0002573)1.99341334
130Subacute progressive viral hepatitis (HP:0006572)1.99293604
131Gastrointestinal inflammation (HP:0004386)1.98657543
132Vertigo (HP:0002321)1.98648795
133Lower limb amyotrophy (HP:0007210)1.97629731
134Abnormality of the foot musculature (HP:0001436)1.96756019
135Foot dorsiflexor weakness (HP:0009027)1.95826969
136Aortic aneurysm (HP:0004942)1.93481670
137Abnormality of T cell number (HP:0011839)1.93089145
138Palmoplantar keratoderma (HP:0000982)1.87055230
139Slow saccadic eye movements (HP:0000514)1.86704707
140Myopathic facies (HP:0002058)1.86115851
141Mesangial abnormality (HP:0001966)1.84582870
142Petechiae (HP:0000967)1.84425351
143Menorrhagia (HP:0000132)1.83963272
144Polycythemia (HP:0001901)1.83649649
145Granulocytopenia (HP:0001913)1.83526919
146Fragile skin (HP:0001030)1.83482700
147Sepsis (HP:0100806)1.82567898
148Malignant hyperthermia (HP:0002047)1.80670619
149Limb-girdle muscle weakness (HP:0003325)1.79782801
150Hypoglycemic coma (HP:0001325)1.79290061
151Abnormality of the pleura (HP:0002103)1.79205975
152Calcaneovalgus deformity (HP:0001848)1.79174167
153Atrophic scars (HP:0001075)1.78831891
154Sudden cardiac death (HP:0001645)1.77829162
155Recurrent viral infections (HP:0004429)1.77305382
156Pustule (HP:0200039)1.77165797
157* Muscular dystrophy (HP:0003560)1.76969654
158Acne (HP:0001061)1.76678582
159Congestive heart failure (HP:0001635)1.76203770
160Left ventricular hypertrophy (HP:0001712)1.75189417
161Centrally nucleated skeletal muscle fibers (HP:0003687)1.74185837
162Hemiplegia (HP:0002301)1.73824117
163Ketoacidosis (HP:0001993)1.73810389
164Bladder diverticulum (HP:0000015)1.73512562
165Absent phalangeal crease (HP:0006109)1.73206234
166Skin ulcer (HP:0200042)1.72425185
167Bulbar palsy (HP:0001283)1.71256126
168Upper limb amyotrophy (HP:0009129)1.70133447
169Distal upper limb amyotrophy (HP:0007149)1.70133447
170Knee flexion contracture (HP:0006380)1.69925974
171Neonatal death (HP:0003811)1.69492214
172Frequent falls (HP:0002359)1.69474276

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN5.27174434
2TIE14.60948701
3RIPK44.02105932
4TRIB33.83420382
5OBSCN3.46633556
6KDR3.15118588
7PKN22.94006454
8MYLK2.67981664
9BLK2.67817837
10PHKG22.67359583
11PHKG12.67359583
12LMTK22.66174397
13FES2.66084232
14CSK2.61037787
15IRAK42.60626478
16DMPK2.58258058
17MAP4K12.55639048
18TYK22.28993083
19PDK32.28587953
20PDK42.28587953
21ZAP702.13333597
22RIPK12.01073963
23PRPF4B2.00693426
24TNK21.90985559
25PDGFRA1.82212990
26GRK61.80769523
27TAOK11.79520364
28PDK21.78768693
29PIK3CA1.69784466
30NEK11.63971816
31KSR21.63709342
32HCK1.62529617
33LATS21.61505012
34JAK31.57774544
35TGFBR21.57634778
36FGR1.51101155
37MAP3K131.46859806
38BTK1.44581040
39BCKDK1.44048726
40EPHB21.42142165
41MAP3K61.40136269
42LATS11.34748903
43PTK2B1.33868765
44MUSK1.31354303
45PAK31.31350151
46MARK21.26814343
47JAK21.23540055
48SYK1.23205510
49SIK11.22784058
50MAP2K31.22428029
51PRKD11.16924901
52ERN11.16566540
53MAP3K141.14427256
54ILK1.13064073
55MAPKAPK31.11653907
56PTK61.10591331
57YES11.09445429
58FER1.05065654
59TBK11.04998572
60DDR21.03163313
61ROCK11.02244935
62EPHB11.01172114
63IKBKE1.00556965
64WNK41.00162017
65LYN0.98254879
66PRKD20.97495220
67MAP3K30.96810246
68MAP2K40.96364046
69STK38L0.95880376
70MAPK120.95155150
71TRPM70.94257268
72PTK20.91040131
73TAOK20.89917354
74PRKG20.88811778
75LCK0.87369274
76PIK3CG0.85394446
77TGFBR10.84527451
78TXK0.83629640
79CAMK1D0.82939340
80SGK30.81830540
81PDK10.79508924
82MTOR0.78877473
83MAP3K70.78196938
84PRKAA20.78070390
85ITK0.77255420
86CDC42BPA0.76635868
87MAP3K20.75640421
88IRAK10.75577530
89STK100.74855229
90PAK20.73970264
91TEC0.73526443
92SMG10.72929715
93STK240.72597136
94MAP2K10.72556977
95MARK30.72261786
96LRRK20.72003772
97PRKAA10.71735208
98PINK10.71296478
99PRKD30.70579427
100CAMK2D0.68823577
101KIT0.64918926
102CSF1R0.63805666
103RET0.63371966
104PAK40.63059567
105IRAK20.61352088
106CAMK1G0.61347658
107SIK30.60798330
108STK110.60679230
109FYN0.60423599
110INSRR0.59857063
111ICK0.58666181
112ZAK0.58431083
113KSR10.57482230
114SGK20.56695907
115MATK0.56108873
116DYRK1B0.55966728
117PDGFRB0.55453163
118MAP2K60.55033635
119NEK90.54625115
120ROCK20.54256989
121FLT30.52754704
122MAP3K50.52754332
123RAF10.52710159
124STK380.52225974
125DAPK30.51712523
126WNK10.51639044
127FGFR40.50008380
128MOS0.49575885
129MAP3K100.48821066
130AKT20.48697002
131TESK20.48452017
132CDK190.47873657
133BMX0.47521833
134DAPK20.44698755
135MET0.44403743
136RPS6KA20.42956186
137PRKCH0.41810997
138PDPK10.39723373
139LIMK10.38237130
140FGFR10.36514612
141TAOK30.36021051
142HIPK20.34469963
143CAMK40.34046049
144MAPKAPK20.33981982
145PRKACB0.33619774
146FGFR30.31056611
147RPS6KC10.29394213
148RPS6KL10.29394213
149EPHA30.29224373
150MAP3K110.28863838
151EPHA20.26653375
152GRK70.26539657
153PRKCE0.25659180
154STK30.24938564
155PRKACG0.22999224
156MAP3K10.22862120
157MAPK70.22748000
158RPS6KA60.21774862
159JAK10.20879706
160STK40.20433032

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.67113886
2Dilated cardiomyopathy_Homo sapiens_hsa054143.89168996
3Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.86002742
42-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.55191320
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.07995337
6Cardiac muscle contraction_Homo sapiens_hsa042602.98547022
7Osteoclast differentiation_Homo sapiens_hsa043802.85908560
8Leishmaniasis_Homo sapiens_hsa051402.72231805
9Propanoate metabolism_Homo sapiens_hsa006402.56370861
10Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.50817595
11Fatty acid degradation_Homo sapiens_hsa000712.39620373
12ECM-receptor interaction_Homo sapiens_hsa045122.38944528
13Staphylococcus aureus infection_Homo sapiens_hsa051502.28201480
14Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.27865030
15Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046662.14795612
16Focal adhesion_Homo sapiens_hsa045102.10691611
17Malaria_Homo sapiens_hsa051442.10667614
18B cell receptor signaling pathway_Homo sapiens_hsa046622.01744905
19Fatty acid metabolism_Homo sapiens_hsa012121.97027257
20Tuberculosis_Homo sapiens_hsa051521.94241233
21Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.93912129
22Carbon metabolism_Homo sapiens_hsa012001.90740178
23Viral myocarditis_Homo sapiens_hsa054161.87583818
24Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.79636216
25Toll-like receptor signaling pathway_Homo sapiens_hsa046201.75694933
26Acute myeloid leukemia_Homo sapiens_hsa052211.71053218
27NOD-like receptor signaling pathway_Homo sapiens_hsa046211.62944358
28Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.61184685
29Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.55379523
30PPAR signaling pathway_Homo sapiens_hsa033201.55193021
31Chemokine signaling pathway_Homo sapiens_hsa040621.53591998
32Adherens junction_Homo sapiens_hsa045201.50186489
33Measles_Homo sapiens_hsa051621.42270044
34Pyruvate metabolism_Homo sapiens_hsa006201.40209977
35Insulin resistance_Homo sapiens_hsa049311.39102335
36Legionellosis_Homo sapiens_hsa051341.38731430
37Non-small cell lung cancer_Homo sapiens_hsa052231.33615977
38Tight junction_Homo sapiens_hsa045301.29727055
39Amoebiasis_Homo sapiens_hsa051461.29311669
40Parkinsons disease_Homo sapiens_hsa050121.28617480
41T cell receptor signaling pathway_Homo sapiens_hsa046601.28246042
42Hematopoietic cell lineage_Homo sapiens_hsa046401.27033598
43Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.26263720
44Adipocytokine signaling pathway_Homo sapiens_hsa049201.26247952
45Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.26032609
46Pancreatic cancer_Homo sapiens_hsa052121.24684955
47Influenza A_Homo sapiens_hsa051641.22533543
48Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.22502188
49Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.21287295
50Phagosome_Homo sapiens_hsa041451.20865607
51Proteoglycans in cancer_Homo sapiens_hsa052051.20015363
52African trypanosomiasis_Homo sapiens_hsa051431.19560686
53Jak-STAT signaling pathway_Homo sapiens_hsa046301.18969620
54Graft-versus-host disease_Homo sapiens_hsa053321.14612162
55Insulin signaling pathway_Homo sapiens_hsa049101.13600796
56TNF signaling pathway_Homo sapiens_hsa046681.13433248
57NF-kappa B signaling pathway_Homo sapiens_hsa040641.13361871
58Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.12728437
59Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.10039083
60Glucagon signaling pathway_Homo sapiens_hsa049221.08685104
61Pertussis_Homo sapiens_hsa051331.06664928
62Allograft rejection_Homo sapiens_hsa053301.06645623
63Arginine biosynthesis_Homo sapiens_hsa002201.05927345
64AMPK signaling pathway_Homo sapiens_hsa041521.04553705
65Neurotrophin signaling pathway_Homo sapiens_hsa047221.02229186
66RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.02038754
67cGMP-PKG signaling pathway_Homo sapiens_hsa040221.00642802
68Hepatitis B_Homo sapiens_hsa051611.00501423
69Small cell lung cancer_Homo sapiens_hsa052220.99861512
70Autoimmune thyroid disease_Homo sapiens_hsa053200.99307136
71Hepatitis C_Homo sapiens_hsa051600.98925691
72AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.98775828
73HIF-1 signaling pathway_Homo sapiens_hsa040660.97587231
74Oxidative phosphorylation_Homo sapiens_hsa001900.97169056
75Protein digestion and absorption_Homo sapiens_hsa049740.95434997
76Shigellosis_Homo sapiens_hsa051310.95056162
77Primary immunodeficiency_Homo sapiens_hsa053400.94189371
78Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.93941609
79Other glycan degradation_Homo sapiens_hsa005110.93859755
80Fatty acid biosynthesis_Homo sapiens_hsa000610.92518316
81Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.92475158
82Alzheimers disease_Homo sapiens_hsa050100.91415679
83Starch and sucrose metabolism_Homo sapiens_hsa005000.91105507
84Lysine degradation_Homo sapiens_hsa003100.89728693
85Phospholipase D signaling pathway_Homo sapiens_hsa040720.89461999
86Endocytosis_Homo sapiens_hsa041440.89390223
87Leukocyte transendothelial migration_Homo sapiens_hsa046700.89055135
88Prolactin signaling pathway_Homo sapiens_hsa049170.88887622
89Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.87648642
90Butanoate metabolism_Homo sapiens_hsa006500.85267237
91Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.84433718
92Vascular smooth muscle contraction_Homo sapiens_hsa042700.83810472
93Biosynthesis of amino acids_Homo sapiens_hsa012300.83545210
94Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.82991220
95Dorso-ventral axis formation_Homo sapiens_hsa043200.82525923
96Endometrial cancer_Homo sapiens_hsa052130.82048612
97Central carbon metabolism in cancer_Homo sapiens_hsa052300.80610689
98Apoptosis_Homo sapiens_hsa042100.79675856
99Regulation of actin cytoskeleton_Homo sapiens_hsa048100.78910085
100Herpes simplex infection_Homo sapiens_hsa051680.78467489
101Carbohydrate digestion and absorption_Homo sapiens_hsa049730.76684138
102Phosphatidylinositol signaling system_Homo sapiens_hsa040700.75233083
103PI3K-Akt signaling pathway_Homo sapiens_hsa041510.74870249
104Sphingolipid signaling pathway_Homo sapiens_hsa040710.74037322
105Antigen processing and presentation_Homo sapiens_hsa046120.73405983
106Tryptophan metabolism_Homo sapiens_hsa003800.73342738
107Thyroid hormone signaling pathway_Homo sapiens_hsa049190.72522443
108Longevity regulating pathway - mammal_Homo sapiens_hsa042110.72205107
109Choline metabolism in cancer_Homo sapiens_hsa052310.69289162
110VEGF signaling pathway_Homo sapiens_hsa043700.68424564
111Huntingtons disease_Homo sapiens_hsa050160.67495548
112Oxytocin signaling pathway_Homo sapiens_hsa049210.67387404
113Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.65794056
114Glioma_Homo sapiens_hsa052140.65415834
115Inositol phosphate metabolism_Homo sapiens_hsa005620.65265245
116MAPK signaling pathway_Homo sapiens_hsa040100.64128605
117Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.63884747
118Platelet activation_Homo sapiens_hsa046110.62777195
119Renal cell carcinoma_Homo sapiens_hsa052110.62292437
120Long-term potentiation_Homo sapiens_hsa047200.61705911
121Rap1 signaling pathway_Homo sapiens_hsa040150.61575423
122Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.61367791
123Bladder cancer_Homo sapiens_hsa052190.61282928
124Glycosaminoglycan degradation_Homo sapiens_hsa005310.60265357
125Hippo signaling pathway_Homo sapiens_hsa043900.59786299
126Type I diabetes mellitus_Homo sapiens_hsa049400.58758143
127ErbB signaling pathway_Homo sapiens_hsa040120.56484418
128Arginine and proline metabolism_Homo sapiens_hsa003300.56160885
129Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.55317372
130Bile secretion_Homo sapiens_hsa049760.54718817
131mTOR signaling pathway_Homo sapiens_hsa041500.54226886
132Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.54136919
133Fatty acid elongation_Homo sapiens_hsa000620.52782396
134Colorectal cancer_Homo sapiens_hsa052100.51467204
135Complement and coagulation cascades_Homo sapiens_hsa046100.50936137
136Lysosome_Homo sapiens_hsa041420.50456932
137Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.46493254
138MicroRNAs in cancer_Homo sapiens_hsa052060.46099343
139Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.46037914
140Gap junction_Homo sapiens_hsa045400.45663357
141Type II diabetes mellitus_Homo sapiens_hsa049300.45400165
142Notch signaling pathway_Homo sapiens_hsa043300.44967004
143Renin secretion_Homo sapiens_hsa049240.43274938
144Toxoplasmosis_Homo sapiens_hsa051450.41013130
145Pathways in cancer_Homo sapiens_hsa052000.40619655
146Calcium signaling pathway_Homo sapiens_hsa040200.40083837
147Fat digestion and absorption_Homo sapiens_hsa049750.39995405
148Melanoma_Homo sapiens_hsa052180.39703007
149Galactose metabolism_Homo sapiens_hsa000520.39600184
150Ovarian steroidogenesis_Homo sapiens_hsa049130.39164555
151Chronic myeloid leukemia_Homo sapiens_hsa052200.37894815
152beta-Alanine metabolism_Homo sapiens_hsa004100.37357287
153Estrogen signaling pathway_Homo sapiens_hsa049150.37113292
154TGF-beta signaling pathway_Homo sapiens_hsa043500.36095168
155GnRH signaling pathway_Homo sapiens_hsa049120.34054812
156Gastric acid secretion_Homo sapiens_hsa049710.33766994
157FoxO signaling pathway_Homo sapiens_hsa040680.33286006
158cAMP signaling pathway_Homo sapiens_hsa040240.33003606
159Aldosterone synthesis and secretion_Homo sapiens_hsa049250.32523197
160Phenylalanine metabolism_Homo sapiens_hsa003600.31632898
161Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.29899660
162Glycerolipid metabolism_Homo sapiens_hsa005610.28434931
163Basal cell carcinoma_Homo sapiens_hsa052170.28054674
164Melanogenesis_Homo sapiens_hsa049160.27008376
165Salmonella infection_Homo sapiens_hsa051320.25541758
166Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.25478238
167Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.25051900

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