FKRP

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 protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1polyketide metabolic process (GO:0030638)4.91273056
2doxorubicin metabolic process (GO:0044598)4.91273056
3daunorubicin metabolic process (GO:0044597)4.91273056
4behavioral response to nicotine (GO:0035095)4.56222827
5neuron fate determination (GO:0048664)4.52525918
6response to pheromone (GO:0019236)4.48898201
7positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.30362639
8regulation of short-term neuronal synaptic plasticity (GO:0048172)4.20708748
9establishment of protein localization to mitochondrial membrane (GO:0090151)4.14979922
10sarcomere organization (GO:0045214)4.14149121
11cardiac myofibril assembly (GO:0055003)4.12283694
12cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.12056189
13nephron tubule morphogenesis (GO:0072078)4.10334616
14nephron epithelium morphogenesis (GO:0072088)4.10334616
15glutamate secretion (GO:0014047)4.05954515
16midbrain development (GO:0030901)4.04580919
17synaptic vesicle maturation (GO:0016188)4.03483760
18sarcoplasmic reticulum calcium ion transport (GO:0070296)4.01933204
19regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.97520122
20positive regulation of prostaglandin secretion (GO:0032308)3.95804356
21neuronal stem cell maintenance (GO:0097150)3.92346199
22plasma membrane repair (GO:0001778)3.92093357
23regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.90861282
24mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.90094029
25cell communication by electrical coupling (GO:0010644)3.83364644
26myofibril assembly (GO:0030239)3.80066165
27cardiac muscle contraction (GO:0060048)3.80034222
28regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.76408227
29regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.72804754
30positive regulation of catecholamine secretion (GO:0033605)3.69453497
31regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.67904891
32energy coupled proton transport, down electrochemical gradient (GO:0015985)3.67879717
33ATP synthesis coupled proton transport (GO:0015986)3.67879717
34pyrimidine nucleobase catabolic process (GO:0006208)3.59494809
35negative regulation of potassium ion transmembrane transport (GO:1901380)3.55013201
36regulation of synapse structural plasticity (GO:0051823)3.54627945
37regulation of cell communication by electrical coupling (GO:0010649)3.54430300
38negative regulation of mesenchymal cell apoptotic process (GO:2001054)3.51263119
39regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.49770423
40negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.48127162
41muscle filament sliding (GO:0030049)3.43007947
42actin-myosin filament sliding (GO:0033275)3.43007947
43mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.37545983
44mitochondrial respiratory chain complex I assembly (GO:0032981)3.37545983
45NADH dehydrogenase complex assembly (GO:0010257)3.37545983
46ionotropic glutamate receptor signaling pathway (GO:0035235)3.37363705
47postsynaptic membrane organization (GO:0001941)3.36914119
48locomotory exploration behavior (GO:0035641)3.33016432
49positive regulation of gastrulation (GO:2000543)3.30719094
50presynaptic membrane assembly (GO:0097105)3.28951693
51otic vesicle formation (GO:0030916)3.28078001
52regulation of mesenchymal cell apoptotic process (GO:2001053)3.27445309
53epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.26976838
54viral transcription (GO:0019083)3.26802929
55positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.26202552
56aminoglycoside antibiotic metabolic process (GO:0030647)3.23452752
57protein complex biogenesis (GO:0070271)3.21524019
58limb bud formation (GO:0060174)3.18057961
59striated muscle contraction (GO:0006941)3.17164030
60regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.16828430
61membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.16787309
62regulation of prostaglandin secretion (GO:0032306)3.16665986
63hematopoietic stem cell proliferation (GO:0071425)3.14368955
64renal tubule morphogenesis (GO:0061333)3.13837913
65regulation of synaptic vesicle transport (GO:1902803)3.11840141
66regulation of synaptic vesicle exocytosis (GO:2000300)3.11742851
67sequestering of actin monomers (GO:0042989)3.10274730
68synaptic vesicle docking involved in exocytosis (GO:0016081)3.08166646
69positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.07307858
70transmission of nerve impulse (GO:0019226)3.05288864
71membrane depolarization during action potential (GO:0086010)3.05235886
72translational termination (GO:0006415)3.04148892
73negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.02830041
74negative regulation of translation, ncRNA-mediated (GO:0040033)3.02830041
75regulation of translation, ncRNA-mediated (GO:0045974)3.02830041
76G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.01796881
77suckling behavior (GO:0001967)3.00511339
78regulation of timing of cell differentiation (GO:0048505)3.00073805
79presynaptic membrane organization (GO:0097090)2.98418822
80detection of calcium ion (GO:0005513)2.98373457
81epithelial cilium movement (GO:0003351)2.97996403
82regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.97867657
83positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.97700980
84regulation of glutamate receptor signaling pathway (GO:1900449)2.97517927
85dopaminergic neuron differentiation (GO:0071542)2.96559369
86activation of protein kinase A activity (GO:0034199)2.96371135
87retinal ganglion cell axon guidance (GO:0031290)2.95500958
88neuron cell-cell adhesion (GO:0007158)2.95106653
89positive regulation of fatty acid transport (GO:2000193)2.94591768
90regulation of membrane repolarization (GO:0060306)2.94143492
91vocalization behavior (GO:0071625)2.94133078
92negative regulation of axon guidance (GO:1902668)2.94019023
93neuronal action potential (GO:0019228)2.93268212
94regulation of calcium ion transmembrane transporter activity (GO:1901019)2.92271640
95regulation of calcium ion transmembrane transport (GO:1903169)2.92271640
96auditory behavior (GO:0031223)2.91388865
97negative regulation of catenin import into nucleus (GO:0035414)2.91067379
98negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.90752758
99synaptic vesicle exocytosis (GO:0016079)2.90704192
100axonal fasciculation (GO:0007413)2.90043896
101dicarboxylic acid biosynthetic process (GO:0043650)2.89641020
102negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)2.88680621
103negative regulation of axon extension (GO:0030517)2.87547800
104negative regulation of cell killing (GO:0031342)2.87419672
105negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.87419672
106mitochondrial respiratory chain complex assembly (GO:0033108)2.86997947
107cell communication involved in cardiac conduction (GO:0086065)2.86833388
108hindbrain development (GO:0030902)2.86093254
109regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.85967603
110cell proliferation in forebrain (GO:0021846)2.85441018
111regulation of cardioblast proliferation (GO:0003264)2.85228817
112regulation of secondary heart field cardioblast proliferation (GO:0003266)2.85228817
113somite development (GO:0061053)2.84294586
114neuronal action potential propagation (GO:0019227)2.83759489
115positive regulation of icosanoid secretion (GO:0032305)2.83591852
116telencephalon development (GO:0021537)2.81368204
117striated muscle hypertrophy (GO:0014897)2.81224587
118negative regulation of oligodendrocyte differentiation (GO:0048715)2.81188865
119nonmotile primary cilium assembly (GO:0035058)2.80771025
120regulation of relaxation of muscle (GO:1901077)2.79721807
121cardiac muscle hypertrophy (GO:0003300)2.79396836
122thalamus development (GO:0021794)2.79143815
123spinal cord development (GO:0021510)2.78851301
124mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.78126486
125adult heart development (GO:0007512)2.77951972
126regulation of actin filament-based movement (GO:1903115)2.77057925
127cochlea development (GO:0090102)2.77020575
128positive regulation of embryonic development (GO:0040019)2.76434209
129neurotransmitter secretion (GO:0007269)2.76358722
130actin-mediated cell contraction (GO:0070252)2.74010301
131regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.70790988
132regulation of sarcomere organization (GO:0060297)2.69827597
133glutamate receptor signaling pathway (GO:0007215)2.69117021
134positive regulation by host of viral transcription (GO:0043923)2.67654011
135positive regulation of synapse assembly (GO:0051965)2.66825820
136actomyosin structure organization (GO:0031032)2.65335707
137ventricular septum development (GO:0003281)2.64862497
138neural crest cell development (GO:0014032)2.63024188
139nucleobase catabolic process (GO:0046113)2.62982816
140regulation of respiratory system process (GO:0044065)2.62712654
141regulation of striated muscle contraction (GO:0006942)2.61857008
142negative regulation by host of viral transcription (GO:0043922)2.61717581
143axon extension involved in axon guidance (GO:0048846)2.61618342
144neuron projection extension involved in neuron projection guidance (GO:1902284)2.61618342
145synaptic transmission, glutamatergic (GO:0035249)2.59491076
146negative regulation of potassium ion transport (GO:0043267)2.59161369
147synaptic transmission, cholinergic (GO:0007271)2.57049883
148membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.55956641
149startle response (GO:0001964)2.55797945
150skeletal muscle contraction (GO:0003009)2.55692183
151urogenital system development (GO:0001655)2.55427073
152cilium movement (GO:0003341)2.54302643
153lateral sprouting from an epithelium (GO:0060601)2.53787731
154regulation of development, heterochronic (GO:0040034)2.53493155
155sodium ion export (GO:0071436)2.53489331
156negative regulation of multicellular organism growth (GO:0040015)2.53467899
157spinal cord motor neuron differentiation (GO:0021522)2.53186102
158fucose catabolic process (GO:0019317)2.53176638
159L-fucose metabolic process (GO:0042354)2.53176638
160L-fucose catabolic process (GO:0042355)2.53176638
161cell proliferation involved in metanephros development (GO:0072203)2.53029039
162epithelial cell differentiation involved in kidney development (GO:0035850)2.52712216
163primitive streak formation (GO:0090009)2.52222293
164regulation of excitatory postsynaptic membrane potential (GO:0060079)2.52180347
165positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.51973305
166stem cell development (GO:0048864)2.51787480
167neuron recognition (GO:0008038)2.51177543
168regulation of gene silencing by RNA (GO:0060966)2.50393449
169regulation of posttranscriptional gene silencing (GO:0060147)2.50393449
170regulation of gene silencing by miRNA (GO:0060964)2.50393449
171regulation of the force of heart contraction (GO:0002026)2.48713991
172regulation of skeletal muscle contraction (GO:0014819)2.48383440
173limb development (GO:0060173)2.48341377
174appendage development (GO:0048736)2.48341377
175muscle hypertrophy (GO:0014896)2.47757276
176positive regulation of histone deacetylation (GO:0031065)2.47217447
177cardiac left ventricle morphogenesis (GO:0003214)2.47148085
178G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.46971708
179primary amino compound metabolic process (GO:1901160)2.46654920
180clathrin coat assembly (GO:0048268)2.46439564
181determination of left/right symmetry (GO:0007368)2.44972489
182ventricular cardiac muscle cell action potential (GO:0086005)2.44690943
183endocardial cushion morphogenesis (GO:0003203)2.44402279
184cotranslational protein targeting to membrane (GO:0006613)2.42879307
185SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.42796666
186positive regulation of fibroblast migration (GO:0010763)2.42363018
187positive regulation of cation channel activity (GO:2001259)2.41292102
188negative regulation of glial cell differentiation (GO:0045686)2.40974931
189cardiac conduction (GO:0061337)2.40584805
190regulation of cation channel activity (GO:2001257)2.38886782
191regulation of release of sequestered calcium ion into cytosol (GO:0051279)2.37459675
192regulation of long-term neuronal synaptic plasticity (GO:0048169)2.35814823
193membrane depolarization (GO:0051899)2.35139382
194axon extension (GO:0048675)2.34539102
195positive regulation of CREB transcription factor activity (GO:0032793)2.33326747
196negative regulation of cell size (GO:0045792)2.32911990
197cardiac muscle adaptation (GO:0014887)2.32518167
198cardiac muscle hypertrophy in response to stress (GO:0014898)2.32518167
199muscle hypertrophy in response to stress (GO:0003299)2.32518167

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.61374240
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.67097253
3CBX2_27304074_Chip-Seq_ESCs_Mouse2.94407560
4NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.77833800
5RNF2_16625203_ChIP-ChIP_MESCs_Mouse2.58792005
6CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.47893543
7DROSHA_22980978_ChIP-Seq_HELA_Human2.43083474
8RARB_27405468_Chip-Seq_BRAIN_Mouse2.40608370
9SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.40572504
10SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.34460851
11JARID2_20064375_ChIP-Seq_MESCs_Mouse2.29616556
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.27155480
13STAT6_21828071_ChIP-Seq_BEAS2B_Human2.23189602
14GBX2_23144817_ChIP-Seq_PC3_Human2.19355577
15BMI1_23680149_ChIP-Seq_NPCS_Mouse2.17520944
16RNF2_18974828_ChIP-Seq_MESCs_Mouse2.16433590
17EZH2_18974828_ChIP-Seq_MESCs_Mouse2.16433590
18THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.15977519
19HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.15120050
20EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.13054587
21POU5F1_16153702_ChIP-ChIP_HESCs_Human2.11994743
22* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.11518762
23KDM2B_26808549_Chip-Seq_SUP-B15_Human2.10074207
24PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.09873780
25SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.01244443
26STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.00256156
27SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.99493091
28SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.99218115
29EZH2_27294783_Chip-Seq_ESCs_Mouse1.98362039
30AR_21572438_ChIP-Seq_LNCaP_Human1.98346734
31BP1_19119308_ChIP-ChIP_Hs578T_Human1.95631286
32HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.94765310
33JARID2_20075857_ChIP-Seq_MESCs_Mouse1.94321878
34RNF2_27304074_Chip-Seq_NSC_Mouse1.92761876
35TP63_19390658_ChIP-ChIP_HaCaT_Human1.91470610
36SMAD_19615063_ChIP-ChIP_OVARY_Human1.89752357
37CTBP2_25329375_ChIP-Seq_LNCAP_Human1.86424537
38TP53_20018659_ChIP-ChIP_R1E_Mouse1.85874591
39VDR_22108803_ChIP-Seq_LS180_Human1.81799676
40CTBP1_25329375_ChIP-Seq_LNCAP_Human1.78939314
41ZFP57_27257070_Chip-Seq_ESCs_Mouse1.78597247
42SUZ12_27294783_Chip-Seq_ESCs_Mouse1.75744231
43KDM2B_26808549_Chip-Seq_DND41_Human1.73750412
44FUS_26573619_Chip-Seq_HEK293_Human1.69472279
45REST_18959480_ChIP-ChIP_MESCs_Mouse1.69186903
46EZH2_27304074_Chip-Seq_ESCs_Mouse1.65352301
47RNF2_27304074_Chip-Seq_ESCs_Mouse1.63010041
48VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.60724354
49SPI1_23127762_ChIP-Seq_K562_Human1.60296117
50POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.58243110
51TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.58243110
52EED_16625203_ChIP-ChIP_MESCs_Mouse1.57477881
53DNAJC2_21179169_ChIP-ChIP_NT2_Human1.56084203
54KDM2B_26808549_Chip-Seq_K562_Human1.55677856
55TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.55469571
56RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.53393892
57GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.53004297
58WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.52396303
59REST_21632747_ChIP-Seq_MESCs_Mouse1.51186413
60LXR_22292898_ChIP-Seq_THP-1_Human1.50582199
61NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.49916563
62EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.47828369
63EWS_26573619_Chip-Seq_HEK293_Human1.47480638
64EP300_21415370_ChIP-Seq_HL-1_Mouse1.46474607
65* NOTCH1_21737748_ChIP-Seq_TLL_Human1.45804919
66MYC_18940864_ChIP-ChIP_HL60_Human1.43523456
67P300_19829295_ChIP-Seq_ESCs_Human1.43420981
68GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43356049
69SOX2_16153702_ChIP-ChIP_HESCs_Human1.42987941
70MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.39075856
71ZNF274_21170338_ChIP-Seq_K562_Hela1.38750663
72* TCF7_22412390_ChIP-Seq_EML_Mouse1.38691639
73RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.36782101
74NR3C1_23031785_ChIP-Seq_PC12_Mouse1.36296088
75ZFP281_18757296_ChIP-ChIP_E14_Mouse1.35917022
76KDM2B_26808549_Chip-Seq_JURKAT_Human1.35376979
77ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.35316185
78TBX20_22328084_ChIP-Seq_HEART_Mouse1.35055982
79TBX20_22080862_ChIP-Seq_HEART_Mouse1.35055982
80MYC_22102868_ChIP-Seq_BL_Human1.34596796
81MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.34324876
82MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.33819894
83ERG_21242973_ChIP-ChIP_JURKAT_Human1.32144383
84BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.31547977
85DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.29315155
86KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.28855133
87ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.24789701
88RUNX_20019798_ChIP-Seq_JUKART_Human1.24649559
89IKZF1_21737484_ChIP-ChIP_HCT116_Human1.21691497
90IRF1_19129219_ChIP-ChIP_H3396_Human1.20974687
91* GATA1_19941827_ChIP-Seq_MEL_Mouse1.20102025
92CDX2_19796622_ChIP-Seq_MESCs_Mouse1.20085316
93WT1_25993318_ChIP-Seq_PODOCYTE_Human1.19676388
94EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.19620789
95KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.19431907
96GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.19208327
97KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.18125715
98RING1B_27294783_Chip-Seq_ESCs_Mouse1.16812404
99CTCF_27219007_Chip-Seq_Bcells_Human1.16556179
100SOX2_21211035_ChIP-Seq_LN229_Gbm1.10283932
101EST1_17652178_ChIP-ChIP_JURKAT_Human1.09107048
102EGR1_19374776_ChIP-ChIP_THP-1_Human1.08866323
103EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.08853842
104SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.08621326
105ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.08177579
106PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.08107325
107CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.06478435
108TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.06333420
109GABP_17652178_ChIP-ChIP_JURKAT_Human1.05573397
110* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.04987385
111OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.04863314
112TP53_22573176_ChIP-Seq_HFKS_Human1.04128792
113TBX3_20139965_ChIP-Seq_MESCs_Mouse1.03270425
114AR_19668381_ChIP-Seq_PC3_Human1.02847788
115PIAS1_25552417_ChIP-Seq_VCAP_Human1.01593321
116SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.01064024
117TBX3_20139965_ChIP-Seq_ESCs_Mouse1.00615373
118CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00276724
119TAF15_26573619_Chip-Seq_HEK293_Human1.00009378
120PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.98816077
121NR3C1_21868756_ChIP-Seq_MCF10A_Human0.98570922
122SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.97611019
123SMAD3_21741376_ChIP-Seq_EPCs_Human0.97497523
124E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.97214293
125SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.97088887
126AR_25329375_ChIP-Seq_VCAP_Human0.95548384
127RING1B_27294783_Chip-Seq_NPCs_Mouse0.94794694
128TOP2B_26459242_ChIP-Seq_MCF-7_Human0.94708234
129ELK3_25401928_ChIP-Seq_HUVEC_Human0.93788732
130GATA1_26923725_Chip-Seq_HPCs_Mouse0.92484315
131GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91903103
132VDR_24787735_ChIP-Seq_THP-1_Human0.91203486
133TP53_16413492_ChIP-PET_HCT116_Human0.90927249
134BCAT_22108803_ChIP-Seq_LS180_Human0.90033938
135TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88995234
136CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.88901916
137ETV2_25802403_ChIP-Seq_MESCs_Mouse0.88796675
138ZFP281_27345836_Chip-Seq_ESCs_Mouse0.88677519
139RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.88364466
140UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.88158648
141EGR1_19032775_ChIP-ChIP_M12_Human0.88078693
142YAP1_20516196_ChIP-Seq_MESCs_Mouse0.88071330
143WT1_19549856_ChIP-ChIP_CCG9911_Human0.86845767
144VDR_21846776_ChIP-Seq_THP-1_Human0.85775279
145SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.84687398
146POU3F2_20337985_ChIP-ChIP_501MEL_Human0.84553814
147GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.84137867
148ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.83861420
149UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.83634240
150GATA1_19941826_ChIP-Seq_K562_Human0.83563313
151SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.82972417
152P300_27058665_Chip-Seq_ZR-75-30cells_Human0.82798284
153SMAD4_21741376_ChIP-Seq_HESCs_Human0.82688244
154ISL1_27105846_Chip-Seq_CPCs_Mouse0.82198179
155SMAD4_21799915_ChIP-Seq_A2780_Human0.81417343
156SMAD3_21741376_ChIP-Seq_ESCs_Human0.81054905
157ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.80622895
158ER_23166858_ChIP-Seq_MCF-7_Human0.79717867
159TET1_21490601_ChIP-Seq_MESCs_Mouse0.79356629
160CTNNB1_20460455_ChIP-Seq_HCT116_Human0.78923611
161IGF1R_20145208_ChIP-Seq_DFB_Human0.78832049
162POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.77258606
163LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.76124081
164TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.75302497

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.17456552
2MP0002837_dystrophic_cardiac_calcinosis3.96753328
3MP0000751_myopathy3.86906861
4MP0003136_yellow_coat_color3.86287514
5MP0003283_abnormal_digestive_organ3.70484620
6MP0009379_abnormal_foot_pigmentation3.36861034
7MP0002653_abnormal_ependyma_morphology3.21399087
8MP0004510_myositis3.16249857
9MP0003646_muscle_fatigue3.13824465
10MP0004145_abnormal_muscle_electrophysio2.87728110
11MP0000566_synostosis2.64474504
12MP0003880_abnormal_central_pattern2.62955281
13MP0002928_abnormal_bile_duct2.61355843
14MP0005171_absent_coat_pigmentation2.55366227
15MP0005084_abnormal_gallbladder_morpholo2.54076726
16MP0004084_abnormal_cardiac_muscle2.52899440
17MP0004215_abnormal_myocardial_fiber2.50349365
18MP0003635_abnormal_synaptic_transmissio2.49133097
19MP0004133_heterotaxia2.43592969
20MP0004036_abnormal_muscle_relaxation2.40667545
21MP0000778_abnormal_nervous_system2.25002596
22* MP0000749_muscle_degeneration2.24664733
23MP0005670_abnormal_white_adipose2.13029004
24MP0001529_abnormal_vocalization2.12341857
25MP0004130_abnormal_muscle_cell2.11080608
26MP0006292_abnormal_olfactory_placode2.10981918
27MP0002736_abnormal_nociception_after2.01914374
28MP0002938_white_spotting2.01644282
29MP0002735_abnormal_chemical_nociception1.99799266
30MP0002106_abnormal_muscle_physiology1.97150131
31* MP0004087_abnormal_muscle_fiber1.95663079
32MP0001968_abnormal_touch/_nociception1.91318061
33* MP0000747_muscle_weakness1.90792594
34MP0003122_maternal_imprinting1.89176891
35MP0005503_abnormal_tendon_morphology1.87747496
36MP0002063_abnormal_learning/memory/cond1.85267029
37MP0004142_abnormal_muscle_tone1.82331233
38MP0000049_abnormal_middle_ear1.79382307
39MP0005330_cardiomyopathy1.78940056
40MP0001501_abnormal_sleep_pattern1.76374201
41MP0004233_abnormal_muscle_weight1.73334614
42MP0002064_seizures1.71590181
43MP0002909_abnormal_adrenal_gland1.71235276
44MP0009745_abnormal_behavioral_response1.70374731
45MP0000013_abnormal_adipose_tissue1.69351501
46MP0005620_abnormal_muscle_contractility1.68520552
47MP0000631_abnormal_neuroendocrine_gland1.68190720
48MP0002277_abnormal_respiratory_mucosa1.68119363
49MP0010030_abnormal_orbit_morphology1.65341860
50MP0002972_abnormal_cardiac_muscle1.62881737
51* MP0000759_abnormal_skeletal_muscle1.62572839
52MP0004270_analgesia1.59138974
53MP0002102_abnormal_ear_morphology1.59045166
54MP0002234_abnormal_pharynx_morphology1.55486993
55MP0005369_muscle_phenotype1.52288556
56MP0004484_altered_response_of1.51737620
57MP0000026_abnormal_inner_ear1.47929176
58* MP0002269_muscular_atrophy1.46860237
59MP0001293_anophthalmia1.46656304
60MP0009384_cardiac_valve_regurgitation1.46277775
61MP0004085_abnormal_heartbeat1.44153095
62MP0002638_abnormal_pupillary_reflex1.44142584
63MP0008775_abnormal_heart_ventricle1.44079124
64MP0008961_abnormal_basal_metabolism1.43109513
65MP0000003_abnormal_adipose_tissue1.41553640
66MP0002572_abnormal_emotion/affect_behav1.39603312
67MP0001440_abnormal_grooming_behavior1.39247377
68MP0003937_abnormal_limbs/digits/tail_de1.37859681
69MP0002282_abnormal_trachea_morphology1.37507231
70MP0004742_abnormal_vestibular_system1.36647533
71MP0003137_abnormal_impulse_conducting1.36465485
72MP0000750_abnormal_muscle_regeneration1.35418516
73MP0008872_abnormal_physiological_respon1.35412000
74MP0002272_abnormal_nervous_system1.33654219
75MP0009250_abnormal_appendicular_skeleto1.29352777
76MP0003303_peritoneal_inflammation1.28545590
77MP0010630_abnormal_cardiac_muscle1.24992840
78MP0001984_abnormal_olfaction1.23999431
79MP0001544_abnormal_cardiovascular_syste1.23730497
80MP0005385_cardiovascular_system_phenoty1.23730497
81MP0003942_abnormal_urinary_system1.23444721
82MP0000955_abnormal_spinal_cord1.22667834
83MP0005551_abnormal_eye_electrophysiolog1.20316041
84MP0003119_abnormal_digestive_system1.20065761
85MP0003011_delayed_dark_adaptation1.19656302
86MP0000534_abnormal_ureter_morphology1.19594112
87MP0002163_abnormal_gland_morphology1.19451934
88MP0003890_abnormal_embryonic-extraembry1.18921193
89MP0001502_abnormal_circadian_rhythm1.18262343
90MP0005623_abnormal_meninges_morphology1.17944882
91* MP0001286_abnormal_eye_development1.17237860
92MP0005423_abnormal_somatic_nervous1.16555056
93MP0008877_abnormal_DNA_methylation1.15278960
94MP0001485_abnormal_pinna_reflex1.15264043
95MP0004858_abnormal_nervous_system1.14004081
96MP0005375_adipose_tissue_phenotype1.13494654
97MP0005645_abnormal_hypothalamus_physiol1.10763521
98MP0002249_abnormal_larynx_morphology1.10395439
99MP0008569_lethality_at_weaning1.07861652
100* MP0002752_abnormal_somatic_nervous1.05899021
101MP0002932_abnormal_joint_morphology1.05254813
102MP0005367_renal/urinary_system_phenotyp1.04721421
103MP0000516_abnormal_urinary_system1.04721421
104* MP0002067_abnormal_sensory_capabilities1.04411952
105* MP0003861_abnormal_nervous_system1.04314513
106MP0006072_abnormal_retinal_apoptosis1.03413867
107MP0000569_abnormal_digit_pigmentation1.03302871
108MP0005174_abnormal_tail_pigmentation1.01570809
109* MP0005195_abnormal_posterior_eye0.99664561
110MP0000372_irregular_coat_pigmentation0.99482858
111MP0003121_genomic_imprinting0.99270101
112MP0003755_abnormal_palate_morphology0.99148155
113* MP0002152_abnormal_brain_morphology0.97704120
114MP0001970_abnormal_pain_threshold0.97106584
115* MP0004811_abnormal_neuron_physiology0.96833583
116MP0002184_abnormal_innervation0.95663575
117* MP0002697_abnormal_eye_size0.95096377
118MP0003879_abnormal_hair_cell0.94845535
119MP0006138_congestive_heart_failure0.94473204
120MP0006276_abnormal_autonomic_nervous0.94294061
121MP0003938_abnormal_ear_development0.93307033
122MP0004924_abnormal_behavior0.91537264
123MP0005386_behavior/neurological_phenoty0.91537264
124MP0000538_abnormal_urinary_bladder0.91457693
125MP0005253_abnormal_eye_physiology0.91389457
126MP0002089_abnormal_postnatal_growth/wei0.90381185
127MP0002751_abnormal_autonomic_nervous0.89334824
128MP0005391_vision/eye_phenotype0.89299774
129MP0009046_muscle_twitch0.88807845
130* MP0002882_abnormal_neuron_morphology0.87800269
131MP0001486_abnormal_startle_reflex0.87680863
132MP0005666_abnormal_adipose_tissue0.87405148
133MP0002734_abnormal_mechanical_nocicepti0.87201850
134MP0002295_abnormal_pulmonary_circulatio0.86837095
135MP0003123_paternal_imprinting0.86735921
136MP0001299_abnormal_eye_distance/0.82991091
137* MP0002116_abnormal_craniofacial_bone0.82930183
138MP0002557_abnormal_social/conspecific_i0.82885392
139MP0003329_amyloid_beta_deposits0.82716858
140MP0008874_decreased_physiological_sensi0.82608544
141MP0002733_abnormal_thermal_nociception0.82355451
142MP0002822_catalepsy0.82212296
143MP0003300_gastrointestinal_ulcer0.81951020
144MP0002971_abnormal_brown_adipose0.81035524
145MP0003828_pulmonary_edema0.80040058
146MP0001958_emphysema0.79601247
147* MP0002066_abnormal_motor_capabilities/c0.79578129
148MP0010386_abnormal_urinary_bladder0.79034942
149MP0002127_abnormal_cardiovascular_syste0.76374562
150MP0004185_abnormal_adipocyte_glucose0.76224061
151MP0001944_abnormal_pancreas_morphology0.75969359
152MP0004885_abnormal_endolymph0.75741918
153MP0001348_abnormal_lacrimal_gland0.74933208
154MP0003075_altered_response_to0.74832879
155MP0003878_abnormal_ear_physiology0.74237138
156MP0005377_hearing/vestibular/ear_phenot0.74237138
157MP0005535_abnormal_body_temperature0.72854838
158MP0003045_fibrosis0.71952012
159MP0003959_abnormal_lean_body0.70502589
160MP0003221_abnormal_cardiomyocyte_apopto0.69841047
161MP0010368_abnormal_lymphatic_system0.69696835
162MP0003279_aneurysm0.69671335
163MP0009780_abnormal_chondrocyte_physiolo0.68505754
164MP0005167_abnormal_blood-brain_barrier0.67474625
165MP0000266_abnormal_heart_morphology0.66725789
166MP0003633_abnormal_nervous_system0.66659502

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)4.96171009
2Exercise-induced myalgia (HP:0003738)4.76305590
3* Muscle hypertrophy of the lower extremities (HP:0008968)4.37416112
4* Calf muscle hypertrophy (HP:0008981)4.30934972
5Exercise-induced muscle cramps (HP:0003710)4.21394315
6Abnormality of the left ventricular outflow tract (HP:0011103)4.13237084
7Subaortic stenosis (HP:0001682)4.13237084
8Bundle branch block (HP:0011710)3.90075514
9True hermaphroditism (HP:0010459)3.80446663
10Atrial fibrillation (HP:0005110)3.74963595
11Centrally nucleated skeletal muscle fibers (HP:0003687)3.70401894
12Concave nail (HP:0001598)3.69565649
13Primary atrial arrhythmia (HP:0001692)3.67623380
14Focal motor seizures (HP:0011153)3.64783116
15Increased variability in muscle fiber diameter (HP:0003557)3.63301891
16Visual hallucinations (HP:0002367)3.58910413
17Supraventricular tachycardia (HP:0004755)3.52660568
18Pancreatic cysts (HP:0001737)3.49216973
19Supraventricular arrhythmia (HP:0005115)3.47328613
20Ventricular tachycardia (HP:0004756)3.45684983
21Prolonged QT interval (HP:0001657)3.37526259
22* Abnormality of the calf musculature (HP:0001430)3.36292359
23Abnormality of skeletal muscle fiber size (HP:0012084)3.35118102
24Molar tooth sign on MRI (HP:0002419)3.34219644
25Abnormality of midbrain morphology (HP:0002418)3.34219644
26Syncope (HP:0001279)3.26591504
27Myotonia (HP:0002486)3.25686652
28* EMG: myopathic abnormalities (HP:0003458)3.22074608
29Ventricular fibrillation (HP:0001663)3.20771230
30Pancreatic fibrosis (HP:0100732)3.19375731
31Septo-optic dysplasia (HP:0100842)3.17033808
32Asymmetric septal hypertrophy (HP:0001670)3.10836018
33* Myoglobinuria (HP:0002913)3.08468244
34Bilateral microphthalmos (HP:0007633)2.98910759
35Abnormal EKG (HP:0003115)2.98872919
36Febrile seizures (HP:0002373)2.86700993
37Congenital, generalized hypertrichosis (HP:0004540)2.81288886
38Poor eye contact (HP:0000817)2.80286798
39Muscle fiber splitting (HP:0003555)2.77666932
40Lipid accumulation in hepatocytes (HP:0006561)2.76460093
41Congenital stationary night blindness (HP:0007642)2.75280231
42Hyporeflexia of lower limbs (HP:0002600)2.72367055
43Nephronophthisis (HP:0000090)2.69916266
44Abnormal social behavior (HP:0012433)2.68587825
45Impaired social interactions (HP:0000735)2.68587825
46Keratoconus (HP:0000563)2.64163361
47Increased corneal curvature (HP:0100692)2.64163361
48Synostosis involving the elbow (HP:0003938)2.63656614
49Humeroradial synostosis (HP:0003041)2.63656614
50Abnormal number of erythroid precursors (HP:0012131)2.62639900
51Focal seizures (HP:0007359)2.62395403
5211 pairs of ribs (HP:0000878)2.61964869
53Increased hepatocellular lipid droplets (HP:0006565)2.61085660
54Heart block (HP:0012722)2.58773935
55Ventricular arrhythmia (HP:0004308)2.58574822
56Short 4th metacarpal (HP:0010044)2.57944757
57Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.57944757
58Abnormality of the 4th metacarpal (HP:0010012)2.55789050
59Myokymia (HP:0002411)2.55554559
60Difficulty running (HP:0009046)2.53411349
61Hypothermia (HP:0002045)2.50124090
62* Difficulty climbing stairs (HP:0003551)2.49128847
63Type 1 muscle fiber predominance (HP:0003803)2.46598762
64Supranuclear gaze palsy (HP:0000605)2.44466338
65Dynein arm defect of respiratory motile cilia (HP:0012255)2.44416303
66Absent/shortened dynein arms (HP:0200106)2.44416303
67Muscle fiber inclusion bodies (HP:0100299)2.43840361
68Aplasia/Hypoplasia of the patella (HP:0006498)2.43110615
69Patellar aplasia (HP:0006443)2.43095166
70Sclerocornea (HP:0000647)2.42469808
71Depression (HP:0000716)2.40961569
72Partial duplication of the phalanx of hand (HP:0009999)2.40829201
73Partial duplication of thumb phalanx (HP:0009944)2.40011353
74* Hypoventilation (HP:0002791)2.39943376
75Epileptic encephalopathy (HP:0200134)2.38054013
76Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.34848242
77Pendular nystagmus (HP:0012043)2.34640124
78Lipoatrophy (HP:0100578)2.34208905
79Abnormal atrioventricular conduction (HP:0005150)2.33891930
80Medial flaring of the eyebrow (HP:0010747)2.33849385
81Abnormal respiratory epithelium morphology (HP:0012253)2.33759395
82Abnormal respiratory motile cilium morphology (HP:0005938)2.33759395
83Hemivertebrae (HP:0002937)2.33363962
84Anophthalmia (HP:0000528)2.31906589
85Broad ribs (HP:0000885)2.29541114
86Postural instability (HP:0002172)2.29084465
87Oral leukoplakia (HP:0002745)2.27876357
88Atonic seizures (HP:0010819)2.26456840
89Maternal diabetes (HP:0009800)2.23494057
90Rapidly progressive (HP:0003678)2.22622233
91Increased connective tissue (HP:0009025)2.21730872
92Abnormal ciliary motility (HP:0012262)2.20761062
93Nonprogressive disorder (HP:0003680)2.20652787
94Atrioventricular block (HP:0001678)2.20562513
95Mitochondrial inheritance (HP:0001427)2.20056691
96Oligomenorrhea (HP:0000876)2.17853469
97Deep palmar crease (HP:0006191)2.17410374
98Cystic liver disease (HP:0006706)2.17098734
99Abnormality of cells of the erythroid lineage (HP:0012130)2.16878495
100Abnormality of the renal medulla (HP:0100957)2.15103428
101* Limb-girdle muscle atrophy (HP:0003797)2.12888690
102Ketoacidosis (HP:0001993)2.12827816
103Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.12217921
104Hyperventilation (HP:0002883)2.11718320
105Absence seizures (HP:0002121)2.11365461
106* Dilated cardiomyopathy (HP:0001644)2.09921451
107* Type II lissencephaly (HP:0007260)2.09913623
108Rib fusion (HP:0000902)2.07845241
109Optic nerve hypoplasia (HP:0000609)2.07802495
110Narrow nasal bridge (HP:0000446)2.07616945
111Amblyopia (HP:0000646)2.07503512
112Limb dystonia (HP:0002451)2.07184405
113Oligodactyly (hands) (HP:0001180)2.06090459
114Palpitations (HP:0001962)2.06068696
115Anencephaly (HP:0002323)2.05860275
116Sleep apnea (HP:0010535)2.05339996
117Polyphagia (HP:0002591)2.05182984
118Muscle stiffness (HP:0003552)2.05123313
119Exertional dyspnea (HP:0002875)2.04865726
120Fibular hypoplasia (HP:0003038)2.04852132
121Tubular atrophy (HP:0000092)2.04554569
122Distal arthrogryposis (HP:0005684)2.03123899
123Aplasia/Hypoplasia of the fibula (HP:0006492)2.02467047
124Bronchomalacia (HP:0002780)2.02138979
125Progressive muscle weakness (HP:0003323)2.01278866
126* Frequent falls (HP:0002359)2.00311796
127Failure to thrive in infancy (HP:0001531)1.99961877
128Absent septum pellucidum (HP:0001331)1.99736064
129Cerebral aneurysm (HP:0004944)1.98942842
130Short femoral neck (HP:0100864)1.98604337
131Acute necrotizing encephalopathy (HP:0006965)1.98272127
132Athetosis (HP:0002305)1.95917248
133Generalized tonic-clonic seizures (HP:0002069)1.95354903
134Abnormality of the parietal bone (HP:0002696)1.94408478
135Gait imbalance (HP:0002141)1.93543002
136Abnormal hair whorl (HP:0010721)1.92818142
137Right ventricular cardiomyopathy (HP:0011663)1.92370336
138Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.92171488
139Abnormal number of incisors (HP:0011064)1.91726830
140Chronic hepatic failure (HP:0100626)1.90711704
141Central scotoma (HP:0000603)1.90351887
142Scapular winging (HP:0003691)1.90080076
143Rhabdomyolysis (HP:0003201)1.89957958
144Retinal dysplasia (HP:0007973)1.89719632
145Aplasia/hypoplasia of the uterus (HP:0008684)1.89443772
146Increased density of long bones (HP:0006392)1.87206127
147Neonatal short-limb short stature (HP:0008921)1.86772245
148Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.86672983
149Hypoplastic iliac wings (HP:0002866)1.86512367
150Striae distensae (HP:0001065)1.85846566
151Abnormal respiratory motile cilium physiology (HP:0012261)1.85777953
152Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.83183136
153Fibular aplasia (HP:0002990)1.82960432
154Spinal canal stenosis (HP:0003416)1.82529858
155Adactyly (HP:0009776)1.82323304
156Esophageal atresia (HP:0002032)1.82135810
157Large for gestational age (HP:0001520)1.81910966
158Scrotal hypoplasia (HP:0000046)1.81840992
159Renal Fanconi syndrome (HP:0001994)1.80003992
160Dialeptic seizures (HP:0011146)1.79645211
161Gastrointestinal atresia (HP:0002589)1.78857386
162Hemiparesis (HP:0001269)1.78499228
163Supernumerary bones of the axial skeleton (HP:0009144)1.77887516
164* Left ventricular hypertrophy (HP:0001712)1.77066733
165Ragged-red muscle fibers (HP:0003200)1.75950721
166Hemiplegia (HP:0002301)1.75649285
167Chorioretinal atrophy (HP:0000533)1.75603600
168* Vertebral fusion (HP:0002948)1.75602054
169Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.74956318
170Aneurysm (HP:0002617)1.73728111
171Abnormal rod and cone electroretinograms (HP:0008323)1.72787336
172Abnormality of the middle phalanges of the toes (HP:0010183)1.72688088
173Lymphangioma (HP:0100764)1.72386821
174Shawl scrotum (HP:0000049)1.71882999
175Lower limb amyotrophy (HP:0007210)1.71094500
176Global brain atrophy (HP:0002283)1.70997126
177Synostosis involving bones of the feet (HP:0009140)1.70984638
178Synostosis involving bones of the lower limbs (HP:0009138)1.70984638
179Reticulocytopenia (HP:0001896)1.70919407
180* Meningocele (HP:0002435)1.70833644
181Coronal craniosynostosis (HP:0004440)1.70051977
182Hypercortisolism (HP:0001578)1.69959843
183Abnormality of abdominal situs (HP:0011620)1.69939612
184Abdominal situs inversus (HP:0003363)1.69939612
185Broad metatarsal (HP:0001783)1.69808638
186* Muscular dystrophy (HP:0003560)1.69412499
187Generalized amyotrophy (HP:0003700)1.68650724
188Spinal rigidity (HP:0003306)1.68548043
189Congenital malformation of the right heart (HP:0011723)1.68216074
190Double outlet right ventricle (HP:0001719)1.68216074
191Poor head control (HP:0002421)1.67783618
192Nemaline bodies (HP:0003798)1.67031678
193Exostoses (HP:0100777)1.65825592
194Anxiety (HP:0000739)1.65696258
195* Generalized muscle weakness (HP:0003324)1.64172039
196Mildly elevated creatine phosphokinase (HP:0008180)1.63462287
197Slender build (HP:0001533)1.63222675

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAPK157.19623636
2PNCK4.03982302
3TTN3.31106543
4VRK13.20389633
5TRIB32.93996758
6ADRBK22.79614522
7PKN22.71643066
8NTRK32.63184166
9ZAK2.56492334
10PHKG12.46778470
11PHKG22.46778470
12DMPK2.44789302
13TLK12.33383369
14CASK2.16249005
15MAP3K92.00490592
16EPHA41.93361059
17MAP3K71.87814085
18BMPR1B1.83803442
19TAF11.78340644
20EPHB21.72486070
21OBSCN1.72467528
22MAP3K101.70800701
23MAP3K41.60155616
24SIK21.57048914
25KSR11.56248955
26WNK31.56175270
27NEK11.54658404
28STK241.53071445
29DYRK21.52171721
30WEE11.51380390
31TSSK61.51018038
32CAMKK11.47240150
33PRKCH1.46151402
34PAK61.45882991
35CAMK11.45501437
36DAPK21.39826748
37TAOK11.38134267
38MKNK21.37362017
39MAP4K11.34489432
40PDGFRA1.29449118
41GRK11.28067531
42MINK11.28000713
43STK161.25786925
44LMTK21.24161674
45PRKCG1.22555837
46ALK1.21694554
47FLT31.20021283
48CAMK1G1.19464564
49MAP3K131.19036747
50VRK21.18863569
51FES1.17803014
52CAMKK21.16577489
53FRK1.12824982
54ADRBK11.12760038
55PTK2B1.12681633
56EPHA31.11965393
57KSR21.09634857
58JAK11.09327827
59PKN11.08799450
60TGFBR11.06016983
61MARK21.05682016
62PAK31.05596191
63MUSK1.05047865
64MARK11.04223479
65MAPK121.03892320
66MAP2K71.03376365
67PTK61.02595273
68RET0.97590398
69WNK40.97445850
70MAP3K110.96682599
71RIPK40.96297404
72ERN10.95536274
73NTRK20.95365673
74DYRK30.94672059
75MAP3K10.93801852
76PRKD30.93576985
77STK380.93381140
78CDK30.93314779
79PLK20.91778848
80CAMK40.90892476
81TBK10.87604640
82CDK190.86686342
83CDK50.86545705
84UHMK10.86414449
85MYLK0.86396834
86NTRK10.86364616
87NEK90.86310192
88MAP2K40.85788499
89TAOK30.84369630
90RIPK10.83862909
91TYRO30.82404419
92CAMK1D0.80088461
93DYRK1A0.79395451
94HCK0.79036493
95LATS20.78932832
96SYK0.78834639
97PINK10.75624313
98INSRR0.75612976
99PRKD10.72784721
100STK110.72428834
101CSNK1G20.70921113
102TIE10.70328260
103HIPK20.68949242
104DAPK30.68917253
105PLK30.68483752
106NME10.67561750
107CDK80.67302930
108EEF2K0.64791296
109SGK10.63705435
110PRKD20.62205627
111TNIK0.61521879
112EPHB10.61409070
113MAPK130.60721862
114MAP3K120.60111033
115DAPK10.59851232
116ILK0.58417525
117PRKCE0.58398838
118MAP3K50.57134142
119MAP2K20.56337440
120CAMK2D0.55887715
121MARK30.54646155
122RPS6KA50.54076445
123PASK0.53574126
124MKNK10.53454640
125CAMK2A0.52380287
126SGK30.51933190
127PDGFRB0.51241915
128PRKCI0.51002815
129STK38L0.50410405
130PDPK10.50151720
131SIK10.49793832
132CHUK0.49673408
133MAP2K10.49110702
134JAK20.48992317
135RPS6KA20.48879984
136PDK10.48874385
137GRK70.48164468
138CDC42BPA0.46710847
139KIT0.46583990
140CHEK20.45417439
141SIK30.45080612
142CSNK1G10.45074447
143PAK20.43524940
144TGFBR20.42138118
145CSNK1G30.41908544
146GSK3A0.41753505
147FYN0.40683418
148RPS6KA60.40461356
149BRSK20.40150219
150NEK20.39288396
151FGFR20.38321009
152FER0.37887880
153MAP4K20.36027048
154PRKAA10.35248745
155GRK50.35219399
156MAPKAPK50.35090298
157PRKCZ0.34088314
158IRAK10.31433952
159DYRK1B0.29701558
160PRKG10.28978225
161BUB10.27609315
162CSNK1A1L0.25308818
163STK40.25058842
164PRKACA0.23397899

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001903.61802305
2Maturity onset diabetes of the young_Homo sapiens_hsa049503.20625638
3Ribosome_Homo sapiens_hsa030103.19049079
4Basal cell carcinoma_Homo sapiens_hsa052172.63135545
5Dilated cardiomyopathy_Homo sapiens_hsa054142.40271498
6Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.30235133
7Huntingtons disease_Homo sapiens_hsa050162.29245751
8Phototransduction_Homo sapiens_hsa047442.25046322
9Nicotine addiction_Homo sapiens_hsa050332.20111823
10Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.15891067
11Synaptic vesicle cycle_Homo sapiens_hsa047212.15640670
12Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.11623727
13Selenocompound metabolism_Homo sapiens_hsa004502.11224795
14RNA polymerase_Homo sapiens_hsa030202.05218164
15Hedgehog signaling pathway_Homo sapiens_hsa043402.05083657
16Cardiac muscle contraction_Homo sapiens_hsa042602.02677765
17Long-term potentiation_Homo sapiens_hsa047201.98585987
18Circadian entrainment_Homo sapiens_hsa047131.95201942
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.92855180
20Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.80235805
21GABAergic synapse_Homo sapiens_hsa047271.78904091
22Glutamatergic synapse_Homo sapiens_hsa047241.78665953
23Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.77659024
24Insulin secretion_Homo sapiens_hsa049111.77602667
25Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.74653332
26Nitrogen metabolism_Homo sapiens_hsa009101.71579481
27Amphetamine addiction_Homo sapiens_hsa050311.66771680
28Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.65299323
29Olfactory transduction_Homo sapiens_hsa047401.62907256
30Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.62333252
31Morphine addiction_Homo sapiens_hsa050321.58144059
32Aldosterone synthesis and secretion_Homo sapiens_hsa049251.57706020
33Oxytocin signaling pathway_Homo sapiens_hsa049211.56267319
34Cocaine addiction_Homo sapiens_hsa050301.55804967
35Alcoholism_Homo sapiens_hsa050341.53806907
36Dopaminergic synapse_Homo sapiens_hsa047281.47077403
37Protein export_Homo sapiens_hsa030601.46618509
38Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.42857567
39Systemic lupus erythematosus_Homo sapiens_hsa053221.40625722
40Cholinergic synapse_Homo sapiens_hsa047251.40267010
41Notch signaling pathway_Homo sapiens_hsa043301.38531193
42Calcium signaling pathway_Homo sapiens_hsa040201.38010915
43alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.36243700
44Type II diabetes mellitus_Homo sapiens_hsa049301.35855911
45Vibrio cholerae infection_Homo sapiens_hsa051101.30806074
46Gastric acid secretion_Homo sapiens_hsa049711.29886813
47Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.29700350
48Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.28538779
49Salivary secretion_Homo sapiens_hsa049701.27269205
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.24918196
51Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.24900429
52Linoleic acid metabolism_Homo sapiens_hsa005911.22804805
53Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.22506511
54cGMP-PKG signaling pathway_Homo sapiens_hsa040221.22331745
55Hippo signaling pathway_Homo sapiens_hsa043901.18575415
56Basal transcription factors_Homo sapiens_hsa030221.18251008
57Renin secretion_Homo sapiens_hsa049241.16538361
58Homologous recombination_Homo sapiens_hsa034401.16368266
59Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.14736808
60Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.13759497
61Wnt signaling pathway_Homo sapiens_hsa043101.12176503
62Fanconi anemia pathway_Homo sapiens_hsa034601.10777642
63Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.10609348
64Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.10126432
65cAMP signaling pathway_Homo sapiens_hsa040241.05514045
66Neurotrophin signaling pathway_Homo sapiens_hsa047221.05052275
67Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.04676428
68GnRH signaling pathway_Homo sapiens_hsa049121.02163451
69Long-term depression_Homo sapiens_hsa047300.99668589
70Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.98336764
71Glucagon signaling pathway_Homo sapiens_hsa049220.94963278
72Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.94681072
73Viral myocarditis_Homo sapiens_hsa054160.93542371
74Glioma_Homo sapiens_hsa052140.90978859
75Type I diabetes mellitus_Homo sapiens_hsa049400.88901021
76Insulin signaling pathway_Homo sapiens_hsa049100.86370096
77mTOR signaling pathway_Homo sapiens_hsa041500.85729024
78Osteoclast differentiation_Homo sapiens_hsa043800.82889058
79Butanoate metabolism_Homo sapiens_hsa006500.81146588
80MAPK signaling pathway_Homo sapiens_hsa040100.80269779
81Insulin resistance_Homo sapiens_hsa049310.79967998
82Estrogen signaling pathway_Homo sapiens_hsa049150.79225321
83VEGF signaling pathway_Homo sapiens_hsa043700.78967063
84Gap junction_Homo sapiens_hsa045400.78499269
85Adipocytokine signaling pathway_Homo sapiens_hsa049200.78388433
86Central carbon metabolism in cancer_Homo sapiens_hsa052300.77612363
87Tryptophan metabolism_Homo sapiens_hsa003800.77578135
88Serotonergic synapse_Homo sapiens_hsa047260.77160051
89Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.76449748
90TGF-beta signaling pathway_Homo sapiens_hsa043500.75541374
91B cell receptor signaling pathway_Homo sapiens_hsa046620.75454433
92Regulation of autophagy_Homo sapiens_hsa041400.75049643
93Platelet activation_Homo sapiens_hsa046110.75048501
94Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.74322093
95Ether lipid metabolism_Homo sapiens_hsa005650.73886962
96Melanogenesis_Homo sapiens_hsa049160.73571662
97Chronic myeloid leukemia_Homo sapiens_hsa052200.72816218
98Axon guidance_Homo sapiens_hsa043600.72010424
99Vascular smooth muscle contraction_Homo sapiens_hsa042700.70829450
100Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.70609216
101Longevity regulating pathway - mammal_Homo sapiens_hsa042110.69749949
102Phosphatidylinositol signaling system_Homo sapiens_hsa040700.69178912
103Taste transduction_Homo sapiens_hsa047420.68493484
104AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.68161198
105Collecting duct acid secretion_Homo sapiens_hsa049660.66839072
106ErbB signaling pathway_Homo sapiens_hsa040120.63523421
107Chemokine signaling pathway_Homo sapiens_hsa040620.63306982
108Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.62384108
109Phospholipase D signaling pathway_Homo sapiens_hsa040720.62379353
110Acute myeloid leukemia_Homo sapiens_hsa052210.61867987
111Alzheimers disease_Homo sapiens_hsa050100.61047647
112HIF-1 signaling pathway_Homo sapiens_hsa040660.61035195
113Ovarian steroidogenesis_Homo sapiens_hsa049130.60305691
114Pancreatic secretion_Homo sapiens_hsa049720.60295901
115Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.58665022
116Leishmaniasis_Homo sapiens_hsa051400.58338933
117Arginine biosynthesis_Homo sapiens_hsa002200.58116224
118Renal cell carcinoma_Homo sapiens_hsa052110.57792015
119Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57747874
120Focal adhesion_Homo sapiens_hsa045100.57608841
121Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.57524286
122Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.57036920
123Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.56858881
124Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.55268937
125Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.55090663
126Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.54507863
127Tuberculosis_Homo sapiens_hsa051520.53561269
128Parkinsons disease_Homo sapiens_hsa050120.53317513
129p53 signaling pathway_Homo sapiens_hsa041150.53241912
130Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.53237791
131Carbohydrate digestion and absorption_Homo sapiens_hsa049730.52774142
132RNA degradation_Homo sapiens_hsa030180.50880070
133One carbon pool by folate_Homo sapiens_hsa006700.49370753
134Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.47738771
135Amoebiasis_Homo sapiens_hsa051460.46670893
1362-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.45593524
137T cell receptor signaling pathway_Homo sapiens_hsa046600.44729015
138Endocytosis_Homo sapiens_hsa041440.44620817
139Steroid biosynthesis_Homo sapiens_hsa001000.44548796
140Colorectal cancer_Homo sapiens_hsa052100.44075875
141Prolactin signaling pathway_Homo sapiens_hsa049170.43972721
142Dorso-ventral axis formation_Homo sapiens_hsa043200.43820192
143Proteoglycans in cancer_Homo sapiens_hsa052050.43356311
144Pathways in cancer_Homo sapiens_hsa052000.42757079
145Sulfur relay system_Homo sapiens_hsa041220.38659250
146Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.36020129
147Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.32999539
148NOD-like receptor signaling pathway_Homo sapiens_hsa046210.32085253
149ECM-receptor interaction_Homo sapiens_hsa045120.30545536
150Purine metabolism_Homo sapiens_hsa002300.30223530
151Nucleotide excision repair_Homo sapiens_hsa034200.29461970
152Melanoma_Homo sapiens_hsa052180.26548081
153Circadian rhythm_Homo sapiens_hsa047100.25175983
154Metabolic pathways_Homo sapiens_hsa011000.24541958

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