FKBP1A

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 is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1COPI coating of Golgi vesicle (GO:0048205)5.47859950
2Golgi transport vesicle coating (GO:0048200)5.47859950
3negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.40384948
4establishment of integrated proviral latency (GO:0075713)4.34794885
5axon ensheathment in central nervous system (GO:0032291)4.29643799
6central nervous system myelination (GO:0022010)4.29643799
7pinocytosis (GO:0006907)4.26197553
8* protein maturation by protein folding (GO:0022417)4.19858429
9synaptic vesicle exocytosis (GO:0016079)4.12670178
10maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.11661370
11protein retention in ER lumen (GO:0006621)4.10191208
12establishment of viral latency (GO:0019043)4.08887070
13protein localization to endosome (GO:0036010)3.91907771
14barbed-end actin filament capping (GO:0051016)3.87355789
15neuron cell-cell adhesion (GO:0007158)3.86812298
16synaptic vesicle maturation (GO:0016188)3.83847537
17neuronal action potential propagation (GO:0019227)3.78653605
18protein localization to synapse (GO:0035418)3.76533228
19regulation of metalloenzyme activity (GO:0048552)3.75238712
20positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.74355763
21membrane raft organization (GO:0031579)3.73625895
22vocalization behavior (GO:0071625)3.71762537
23ionotropic glutamate receptor signaling pathway (GO:0035235)3.71605864
24deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.70005924
25regulation of short-term neuronal synaptic plasticity (GO:0048172)3.65842188
26neuron recognition (GO:0008038)3.63793908
27regulation of synaptic vesicle exocytosis (GO:2000300)3.61309694
28regulation of long-term neuronal synaptic plasticity (GO:0048169)3.60650516
29negative regulation of release of cytochrome c from mitochondria (GO:0090201)3.58324632
30endothelium development (GO:0003158)3.56132190
31negative regulation of neurotransmitter transport (GO:0051589)3.54756702
32regulation of neuronal synaptic plasticity (GO:0048168)3.53032632
33positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.52954456
34endothelial tube morphogenesis (GO:0061154)3.52240093
35morphogenesis of an endothelium (GO:0003159)3.52240093
36glutamate receptor signaling pathway (GO:0007215)3.51816503
37angiogenesis involved in wound healing (GO:0060055)3.50375856
38regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.49140682
39nuclear envelope reassembly (GO:0031468)3.47794026
40mitotic nuclear envelope reassembly (GO:0007084)3.47794026
41positive regulation of actin filament depolymerization (GO:0030836)3.43502799
42glutamate secretion (GO:0014047)3.39951914
43regulation of dendritic spine morphogenesis (GO:0061001)3.39279128
44pentose-phosphate shunt (GO:0006098)3.38454708
45locomotory exploration behavior (GO:0035641)3.38265775
46mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.35192299
47regulation of glutamate secretion (GO:0014048)3.31300425
48positive regulation of interleukin-8 secretion (GO:2000484)3.30601177
49gamma-aminobutyric acid signaling pathway (GO:0007214)3.30074433
50exploration behavior (GO:0035640)3.29150119
51actin filament depolymerization (GO:0030042)3.27700988
52dendritic spine morphogenesis (GO:0060997)3.27148145
53axonal fasciculation (GO:0007413)3.25964007
54dendritic spine organization (GO:0097061)3.25916556
55energy coupled proton transport, down electrochemical gradient (GO:0015985)3.21487811
56ATP synthesis coupled proton transport (GO:0015986)3.21487811
57neuron-neuron synaptic transmission (GO:0007270)3.20327186
58synaptic transmission, glutamatergic (GO:0035249)3.17332931
59positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)3.14834644
60substantia nigra development (GO:0021762)3.13572134
61presynaptic membrane organization (GO:0097090)3.12992208
62skin morphogenesis (GO:0043589)3.12858130
63regulation of synaptic plasticity (GO:0048167)3.12822484
64regulation of synaptic vesicle transport (GO:1902803)3.12036453
65transmission of nerve impulse (GO:0019226)3.11937746
66establishment of mitochondrion localization (GO:0051654)3.11066465
67regulation of excitatory postsynaptic membrane potential (GO:0060079)3.09013671
68calcium-mediated signaling using intracellular calcium source (GO:0035584)3.08290220
69type B pancreatic cell proliferation (GO:0044342)3.07608164
70long-term synaptic potentiation (GO:0060291)3.07434433
71regulation of glutamate receptor signaling pathway (GO:1900449)3.07210263
72negative regulation of peptidyl-threonine phosphorylation (GO:0010801)3.06660530
73myelination (GO:0042552)3.05747290
74regulation of neuron projection regeneration (GO:0070570)3.04357377
75regulation of axon regeneration (GO:0048679)3.04357377
76platelet degranulation (GO:0002576)3.04242727
77hyaluronan catabolic process (GO:0030214)3.04021346
78long-chain fatty acid biosynthetic process (GO:0042759)3.03346534
79positive regulation of lamellipodium assembly (GO:0010592)3.03242900
80axon ensheathment (GO:0008366)3.03074378
81ensheathment of neurons (GO:0007272)3.03074378
82presynaptic membrane assembly (GO:0097105)3.02633703
83proteasome assembly (GO:0043248)3.02204128
84NADPH regeneration (GO:0006740)3.00874280
85negative regulation of protein localization to cell surface (GO:2000009)3.00838668
86regulation of catecholamine metabolic process (GO:0042069)2.99503834
87regulation of dopamine metabolic process (GO:0042053)2.99503834
88antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.98789133
89negative regulation of microtubule polymerization (GO:0031115)2.96939498
90positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.93231236
91behavioral defense response (GO:0002209)2.92990238
92behavioral fear response (GO:0001662)2.92990238
93platelet aggregation (GO:0070527)2.91845343
94regulation of integrin-mediated signaling pathway (GO:2001044)2.90817303
95synaptic transmission, dopaminergic (GO:0001963)2.89962126
96cell adhesion mediated by integrin (GO:0033627)2.89188262
97retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.88868535
98regulation of postsynaptic membrane potential (GO:0060078)2.88808894
99synaptic vesicle endocytosis (GO:0048488)2.88357754
100nucleobase-containing small molecule interconversion (GO:0015949)2.87820740
101apical protein localization (GO:0045176)2.87719339
102regulation of dendritic spine development (GO:0060998)2.87133800
103regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)2.86858624
104regulation of vesicle fusion (GO:0031338)2.86643286
105regulation of synapse structural plasticity (GO:0051823)2.85173122
106glucose catabolic process (GO:0006007)2.84950914
107antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.84417113
108positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.82594091
109negative regulation of synaptic transmission, GABAergic (GO:0032229)2.81289590
110regulation of cellular amino acid metabolic process (GO:0006521)2.79552401
111cellular copper ion homeostasis (GO:0006878)2.78958586
112negative regulation of neurotransmitter secretion (GO:0046929)2.78781289
113neuronal ion channel clustering (GO:0045161)2.78682409
114negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.78441585
115regulation of voltage-gated calcium channel activity (GO:1901385)2.78132994
116fear response (GO:0042596)2.77591053
117hypotonic response (GO:0006971)2.76722602
118mesodermal cell differentiation (GO:0048333)2.76149570
119muscle cell migration (GO:0014812)2.75481669
120innervation (GO:0060384)2.74833168
121long-term memory (GO:0007616)2.74624527
122organelle transport along microtubule (GO:0072384)2.74522747
123chemosensory behavior (GO:0007635)2.74347155
124cerebral cortex radially oriented cell migration (GO:0021799)2.73782828
125long term synaptic depression (GO:0060292)2.73037556
126mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.72922736
127stress fiber assembly (GO:0043149)2.72861330
128deoxyribose phosphate biosynthetic process (GO:0046385)2.72833952
1292-deoxyribonucleotide biosynthetic process (GO:0009265)2.72833952
130vesicle transport along microtubule (GO:0047496)2.71995805
131wound healing, spreading of epidermal cells (GO:0035313)2.71993418
132layer formation in cerebral cortex (GO:0021819)2.70097052
133substrate-dependent cell migration (GO:0006929)2.69759792
134learning (GO:0007612)2.69739366
135chaperone-mediated protein transport (GO:0072321)2.69137571
136positive regulation of membrane potential (GO:0045838)2.68607406
137GDP-mannose metabolic process (GO:0019673)2.67452682
138negative regulation of amino acid transport (GO:0051956)2.65527784
139negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.65180378
140negative regulation of ligase activity (GO:0051352)2.65180378
141lipopolysaccharide biosynthetic process (GO:0009103)2.64683995
142virion assembly (GO:0019068)2.63939056
143detection of calcium ion (GO:0005513)2.63683167
144synaptic vesicle docking involved in exocytosis (GO:0016081)2.63255207
145positive regulation of dendritic spine development (GO:0060999)2.62690241
146positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.62258542
147neuron remodeling (GO:0016322)2.62113401
148endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.61095308
149negative regulation of axonogenesis (GO:0050771)2.60793078
150regulation of superoxide anion generation (GO:0032928)2.60169664
151negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.59265148
152positive regulation of pseudopodium assembly (GO:0031274)2.59015846
153positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)2.58551167
154positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)2.58495606
155Arp2/3 complex-mediated actin nucleation (GO:0034314)2.56631086
156DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.56022256
157* extracellular fibril organization (GO:0043206)2.55916660
158fatty acid elongation (GO:0030497)2.55461797
159negative regulation of smooth muscle cell migration (GO:0014912)2.55417790
160positive regulation of Rho protein signal transduction (GO:0035025)2.54657392
161positive regulation of synapse maturation (GO:0090129)2.53329688
162regulation of dendrite morphogenesis (GO:0048814)2.52563265
163positive regulation of macrophage differentiation (GO:0045651)2.51660454
164regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.51397258
165positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.50910724
166positive regulation of lamellipodium organization (GO:1902745)2.50748702
167signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.50536445
168intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.50536445
169positive regulation of neurotransmitter secretion (GO:0001956)2.50416490
170regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.50250762
171basement membrane organization (GO:0071711)2.47715667
172peptidyl-tyrosine autophosphorylation (GO:0038083)2.47133904
173respiratory electron transport chain (GO:0022904)2.46539634
174ephrin receptor signaling pathway (GO:0048013)2.46298947
175behavioral response to cocaine (GO:0048148)2.45229916
176positive regulation of receptor recycling (GO:0001921)2.44918673
177antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)2.43063615
178anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.42785018
179signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.41823734
180signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.41823734
181signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.41823734
182ribosome assembly (GO:0042255)2.41057743
183deoxyribonucleotide biosynthetic process (GO:0009263)2.40803039
184vesicle coating (GO:0006901)2.40470585
185negative regulation of stress fiber assembly (GO:0051497)2.40223437
186regulation of mammary gland epithelial cell proliferation (GO:0033599)2.39525010
187cortical actin cytoskeleton organization (GO:0030866)2.38390887
188signal transduction involved in DNA integrity checkpoint (GO:0072401)2.38032051
189signal transduction involved in DNA damage checkpoint (GO:0072422)2.38032051
190UV protection (GO:0009650)2.37101348
191regulation of mitochondrial membrane potential (GO:0051881)2.35439769
192negative regulation of homotypic cell-cell adhesion (GO:0034111)2.33684119
193regulation of translational termination (GO:0006449)2.32521105
194proline biosynthetic process (GO:0006561)2.31887585
195negative regulation of nitric-oxide synthase activity (GO:0051001)2.31576570
196lipopolysaccharide metabolic process (GO:0008653)2.31421499
197neutrophil activation involved in immune response (GO:0002283)2.30970919
198pyrimidine-containing compound salvage (GO:0008655)2.29227503
199pyrimidine nucleoside salvage (GO:0043097)2.29227503
200signal transduction involved in cell cycle checkpoint (GO:0072395)2.28798976

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.08115143
2* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.62835660
3GBX2_23144817_ChIP-Seq_PC3_Human3.50740789
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.32077714
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.25688069
6JARID2_20064375_ChIP-Seq_MESCs_Mouse3.21505631
7SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.83786034
8SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.81477838
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.81364485
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.81364485
11RARG_19884340_ChIP-ChIP_MEFs_Mouse2.81250644
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.75310760
13EZH2_27304074_Chip-Seq_ESCs_Mouse2.71609964
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.61655882
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.61167973
16EED_16625203_ChIP-ChIP_MESCs_Mouse2.55570812
17RARB_27405468_Chip-Seq_BRAIN_Mouse2.51966725
18TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.51778590
19* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.46403433
20ELK3_25401928_ChIP-Seq_HUVEC_Human2.43292420
21NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.35254511
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.24650309
23SUZ12_27294783_Chip-Seq_ESCs_Mouse2.22488508
24REST_21632747_ChIP-Seq_MESCs_Mouse2.21850451
25RNF2_27304074_Chip-Seq_ESCs_Mouse2.18855196
26HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.18853004
27ELF1_17652178_ChIP-ChIP_JURKAT_Human2.06236732
28NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.02386985
29PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.97852577
30MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.97307597
31TP63_17297297_ChIP-ChIP_HaCaT_Human1.93980050
32* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.91690992
33PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.88908058
34SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.87958802
35MYC_18358816_ChIP-ChIP_MESCs_Mouse1.87932489
36REST_18959480_ChIP-ChIP_MESCs_Mouse1.85124251
37TAF15_26573619_Chip-Seq_HEK293_Human1.84418212
38* MYC_18555785_ChIP-Seq_MESCs_Mouse1.83567861
39IKZF1_21737484_ChIP-ChIP_HCT116_Human1.79012253
40DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.78937872
41* JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.78409837
42VDR_22108803_ChIP-Seq_LS180_Human1.77613665
43ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.75452464
44CLOCK_20551151_ChIP-Seq_293T_Human1.74473395
45BP1_19119308_ChIP-ChIP_Hs578T_Human1.73649402
46CTBP2_25329375_ChIP-Seq_LNCAP_Human1.72700045
47ZNF263_19887448_ChIP-Seq_K562_Human1.71831306
48OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.70712970
49TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.70642899
50CTBP1_25329375_ChIP-Seq_LNCAP_Human1.67771853
51MYB_21317192_ChIP-Seq_ERMYB_Mouse1.66850840
52DROSHA_22980978_ChIP-Seq_HELA_Human1.64469413
53TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.62954062
54CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.62347481
55CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.61544926
56ZFP57_27257070_Chip-Seq_ESCs_Mouse1.60254580
57NR3C1_23031785_ChIP-Seq_PC12_Mouse1.60245318
58TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.60046015
59BMI1_23680149_ChIP-Seq_NPCS_Mouse1.60017465
60EGR1_19374776_ChIP-ChIP_THP-1_Human1.59830938
61NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.58857609
62SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.58782116
63* GATA2_21666600_ChIP-Seq_HMVEC_Human1.58699080
64PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.58210177
65POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.55958891
66* NELFA_20434984_ChIP-Seq_ESCs_Mouse1.55550478
67THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.55505525
68HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.53905243
69AR_21572438_ChIP-Seq_LNCaP_Human1.53769659
70THAP11_20581084_ChIP-Seq_MESCs_Mouse1.53267749
71* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.52933261
72E2F1_18555785_ChIP-Seq_MESCs_Mouse1.52690602
73ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.52299712
74ZNF274_21170338_ChIP-Seq_K562_Hela1.51939742
75* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.51759442
76SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.49425955
77CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.49319264
78SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.48881972
79* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.47724733
80* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.46724802
81TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.45632034
82HIF1A_21447827_ChIP-Seq_MCF-7_Human1.45239841
83P300_19829295_ChIP-Seq_ESCs_Human1.45214328
84WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.45006091
85TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.44784855
86FUS_26573619_Chip-Seq_HEK293_Human1.44543029
87* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.44168125
88KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.44129088
89ZFX_18555785_ChIP-Seq_MESCs_Mouse1.43752025
90SRY_22984422_ChIP-ChIP_TESTIS_Rat1.42467597
91MYC_19079543_ChIP-ChIP_MESCs_Mouse1.42177704
92NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.42070736
93SMAD4_21799915_ChIP-Seq_A2780_Human1.41904882
94SMAD3_21741376_ChIP-Seq_EPCs_Human1.41751237
95DCP1A_22483619_ChIP-Seq_HELA_Human1.40586313
96PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.39148437
97WT1_19549856_ChIP-ChIP_CCG9911_Human1.39006325
98KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.38906471
99LXR_22292898_ChIP-Seq_THP-1_Human1.37894036
100EP300_21415370_ChIP-Seq_HL-1_Mouse1.35497717
101SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35186356
102RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.34961279
103CREB1_15753290_ChIP-ChIP_HEK293T_Human1.34917620
104TOP2B_26459242_ChIP-Seq_MCF-7_Human1.34321514
105CBX2_27304074_Chip-Seq_ESCs_Mouse1.33815384
106* MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.33321865
107MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.32684078
108TFEB_21752829_ChIP-Seq_HELA_Human1.32533694
109CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.31965822
110RING1B_27294783_Chip-Seq_ESCs_Mouse1.31375046
111TRIM28_21343339_ChIP-Seq_HEK293_Human1.31076271
112RACK7_27058665_Chip-Seq_MCF-7_Human1.30158754
113KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.29856390
114VDR_21846776_ChIP-Seq_THP-1_Human1.29761795
115MYC_22102868_ChIP-Seq_BL_Human1.29293928
116E2F7_22180533_ChIP-Seq_HELA_Human1.29250462
117* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.29189714
118ERG_21242973_ChIP-ChIP_JURKAT_Human1.28657842
119ATF3_27146783_Chip-Seq_COLON_Human1.27827544
120TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.26137533
121RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.25575260
122GATA1_22383799_ChIP-Seq_G1ME_Mouse1.24102154
123ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.22872928
124SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.22722062
125ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.22609993
126CDX2_19796622_ChIP-Seq_MESCs_Mouse1.20576203
127RUNX1_22412390_ChIP-Seq_EML_Mouse1.20404854
128* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.19897774
129* GABP_19822575_ChIP-Seq_HepG2_Human1.19529164
130* STAT4_19710469_ChIP-ChIP_TH1__Mouse1.19344571
131RING1B_27294783_Chip-Seq_NPCs_Mouse1.18073567
132JUN_21703547_ChIP-Seq_K562_Human1.18062340
133SPI1_23547873_ChIP-Seq_NB4_Human1.17547668
134PRDM14_20953172_ChIP-Seq_ESCs_Human1.16978367
135POU3F2_20337985_ChIP-ChIP_501MEL_Human1.16736316
136TET1_21451524_ChIP-Seq_MESCs_Mouse1.15483178
137FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.15276567
138* ETS1_20019798_ChIP-Seq_JURKAT_Human1.15215483
139STAT3_1855785_ChIP-Seq_MESCs_Mouse1.14246169
140HOXB4_20404135_ChIP-ChIP_EML_Mouse1.13918485
141NANOG_18555785_ChIP-Seq_MESCs_Mouse1.13745795
142* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.11801389
143* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.11801389
144MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.11496400
145XRN2_22483619_ChIP-Seq_HELA_Human1.11260488
146CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.10901328
147IGF1R_20145208_ChIP-Seq_DFB_Human1.10550534
148BRD4_27068464_Chip-Seq_AML-cells_Mouse1.10266814
149KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.10194000
150GABP_17652178_ChIP-ChIP_JURKAT_Human1.10063350
151ZFP281_18757296_ChIP-ChIP_E14_Mouse1.09888680
152PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.09674960
153UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.08767713
154WT1_25993318_ChIP-Seq_PODOCYTE_Human1.08090437
155TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.07941913
156VDR_24763502_ChIP-Seq_THP-1_Human1.07351317
157JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.06777271
158TBX5_21415370_ChIP-Seq_HL-1_Mouse1.06690610
159UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.06527937
160CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.05482599
161SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.05036622
162RNF2_27304074_Chip-Seq_NSC_Mouse1.04917464
163SRF_21415370_ChIP-Seq_HL-1_Mouse1.04714148
164CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.04589757
165TP53_18474530_ChIP-ChIP_U2OS_Human1.03932980
166SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.03350259
167NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.02651085
168ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.01999609
169ER_23166858_ChIP-Seq_MCF-7_Human1.00880884
170* SOX2_21211035_ChIP-Seq_LN229_Gbm0.99022119
171STAT3_23295773_ChIP-Seq_U87_Human0.98931771
172TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98340493
173GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97601596
174SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.96938103
175PIAS1_25552417_ChIP-Seq_VCAP_Human0.94884109
176RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.94493152
177STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.94023063
178AR_25329375_ChIP-Seq_VCAP_Human0.93522402
179EOMES_21245162_ChIP-Seq_HESCs_Human0.93249687
180TP53_20018659_ChIP-ChIP_R1E_Mouse0.91652587
181RUNX2_22187159_ChIP-Seq_PCA_Human0.90744192
182* TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.90441998
183TP53_16413492_ChIP-PET_HCT116_Human0.90239696
184* P53_22127205_ChIP-Seq_FIBROBLAST_Human0.89141884
185YAP1_20516196_ChIP-Seq_MESCs_Mouse0.88589165
186MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.88558290
187NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.88175733
188NRF2_20460467_ChIP-Seq_MEFs_Mouse0.88175733
189SOX9_26525672_Chip-Seq_HEART_Mouse0.88149345
190EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.87170055
191RBPJ_22232070_ChIP-Seq_NCS_Mouse0.84627372
192* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.84386745
193GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.84209646
194GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.83782812
195MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.83661708
196DNAJC2_21179169_ChIP-ChIP_NT2_Human0.83585098
197AR_19668381_ChIP-Seq_PC3_Human0.83290287
198SMAD4_21741376_ChIP-Seq_EPCs_Human0.81789303
199TCF4_23295773_ChIP-Seq_U87_Human0.81685911

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern5.26035157
2MP0004859_abnormal_synaptic_plasticity5.19098926
3MP0002877_abnormal_melanocyte_morpholog3.94586788
4MP0004270_analgesia3.84246208
5MP0010368_abnormal_lymphatic_system3.61693695
6MP0008438_abnormal_cutaneous_collagen3.41751167
7MP0003635_abnormal_synaptic_transmissio3.39950299
8MP0003566_abnormal_cell_adhesion3.39166457
9MP0005464_abnormal_platelet_physiology3.03879502
10MP0003191_abnormal_cellular_cholesterol2.98247904
11MP0002063_abnormal_learning/memory/cond2.83189132
12MP0009745_abnormal_behavioral_response2.80542902
13MP0001968_abnormal_touch/_nociception2.70278455
14MP0002064_seizures2.61596861
15MP0005058_abnormal_lysosome_morphology2.54791597
16MP0002272_abnormal_nervous_system2.44839484
17MP0003705_abnormal_hypodermis_morpholog2.42110655
18MP0001529_abnormal_vocalization2.39471531
19MP0002572_abnormal_emotion/affect_behav2.35167614
20MP0002736_abnormal_nociception_after2.32395793
21MP0003329_amyloid_beta_deposits2.31992414
22MP0002735_abnormal_chemical_nociception2.28332642
23MP0003279_aneurysm2.26820144
24MP0002734_abnormal_mechanical_nocicepti2.18694488
25MP0000858_altered_metastatic_potential2.07325774
26MP0003122_maternal_imprinting2.06464772
27MP0001879_abnormal_lymphatic_vessel2.06310348
28MP0008260_abnormal_autophagy2.04178440
29MP0005165_increased_susceptibility_to2.03371718
30MP0001486_abnormal_startle_reflex2.00257526
31MP0000920_abnormal_myelination1.97139253
32MP0000778_abnormal_nervous_system1.96839971
33MP0001905_abnormal_dopamine_level1.96173061
34MP0005257_abnormal_intraocular_pressure1.95981195
35MP0003806_abnormal_nucleotide_metabolis1.93569990
36MP0002733_abnormal_thermal_nociception1.89558504
37MP0001440_abnormal_grooming_behavior1.89124997
38MP0006054_spinal_hemorrhage1.86009751
39MP0009046_muscle_twitch1.85287390
40MP0006276_abnormal_autonomic_nervous1.83563136
41MP0000343_altered_response_to1.83112465
42MP0001970_abnormal_pain_threshold1.82516710
43MP0003436_decreased_susceptibility_to1.82240076
44MP0003828_pulmonary_edema1.81000187
45MP0003075_altered_response_to1.78095421
46MP0002822_catalepsy1.77217431
47MP0001853_heart_inflammation1.73985782
48MP0005023_abnormal_wound_healing1.68780157
49MP0000465_gastrointestinal_hemorrhage1.64839155
50MP0002184_abnormal_innervation1.64175412
51MP0005409_darkened_coat_color1.63684789
52MP0004145_abnormal_muscle_electrophysio1.58902098
53MP0005423_abnormal_somatic_nervous1.58792173
54MP0001501_abnormal_sleep_pattern1.57233116
55MP0005451_abnormal_body_composition1.56232240
56MP0002067_abnormal_sensory_capabilities1.55497489
57MP0000013_abnormal_adipose_tissue1.53919893
58MP0005623_abnormal_meninges_morphology1.53384158
59MP0002837_dystrophic_cardiac_calcinosis1.47196387
60MP0000955_abnormal_spinal_cord1.47131459
61MP0004858_abnormal_nervous_system1.43670153
62MP0003091_abnormal_cell_migration1.42750861
63MP0005386_behavior/neurological_phenoty1.42388686
64MP0004924_abnormal_behavior1.42388686
65MP0001542_abnormal_bone_strength1.41870099
66MP0009780_abnormal_chondrocyte_physiolo1.40101361
67MP0005501_abnormal_skin_physiology1.39454866
68MP0003300_gastrointestinal_ulcer1.39090127
69MP0001188_hyperpigmentation1.37516948
70MP0002796_impaired_skin_barrier1.37070953
71MP0004811_abnormal_neuron_physiology1.37038333
72MP0002882_abnormal_neuron_morphology1.35913529
73MP0010352_gastrointestinal_tract_polyps1.34769540
74MP0002060_abnormal_skin_morphology1.34560033
75MP0001533_abnormal_skeleton_physiology1.33522908
76MP0009840_abnormal_foam_cell1.32443351
77MP0003186_abnormal_redox_activity1.31363277
78MP0000767_abnormal_smooth_muscle1.30031241
79MP0003724_increased_susceptibility_to1.29773371
80MP0002066_abnormal_motor_capabilities/c1.28577097
81MP0003303_peritoneal_inflammation1.27871795
82MP0005171_absent_coat_pigmentation1.23252336
83MP0003448_altered_tumor_morphology1.22535482
84MP0002557_abnormal_social/conspecific_i1.22331548
85MP0008007_abnormal_cellular_replicative1.21779342
86MP0009379_abnormal_foot_pigmentation1.19553597
87MP0008569_lethality_at_weaning1.18757102
88MP0001849_ear_inflammation1.16537554
89MP0004885_abnormal_endolymph1.16520043
90MP0000751_myopathy1.15240278
91MP0003634_abnormal_glial_cell1.14733075
92MP0009333_abnormal_splenocyte_physiolog1.14650684
93MP0001958_emphysema1.13839588
94MP0004036_abnormal_muscle_relaxation1.12024382
95MP0002148_abnormal_hypersensitivity_rea1.10908589
96MP0004742_abnormal_vestibular_system1.10158664
97MP0005164_abnormal_response_to1.10066477
98MP0004085_abnormal_heartbeat1.09024942
99MP0001485_abnormal_pinna_reflex1.08698578
100MP0000749_muscle_degeneration1.08050648
101MP0005166_decreased_susceptibility_to1.07269628
102MP0003950_abnormal_plasma_membrane1.07071165
103MP0004142_abnormal_muscle_tone1.05952541
104MP0004272_abnormal_basement_membrane1.05688041
105MP0000249_abnormal_blood_vessel1.03142268
106MP0003633_abnormal_nervous_system1.02632629
107MP0003631_nervous_system_phenotype1.01881087
108MP0000358_abnormal_cell_content/1.01288260
109MP0005275_abnormal_skin_tensile1.01136012
110MP0008004_abnormal_stomach_pH1.01113958
111MP0009697_abnormal_copulation1.00849753
112* MP0002152_abnormal_brain_morphology1.00247963
113MP0002909_abnormal_adrenal_gland0.99929482
114MP0002419_abnormal_innate_immunity0.98619198
115MP0005621_abnormal_cell_physiology0.98305300
116MP0001835_abnormal_antigen_presentation0.98103839
117MP0004484_altered_response_of0.98044149
118MP0004957_abnormal_blastocyst_morpholog0.96711745
119MP0001915_intracranial_hemorrhage0.96015279
120MP0003172_abnormal_lysosome_physiology0.94655475
121MP0005025_abnormal_response_to0.93513129
122MP0008932_abnormal_embryonic_tissue0.93015649
123MP0002229_neurodegeneration0.90900491
124MP0003453_abnormal_keratinocyte_physiol0.90623810
125MP0005390_skeleton_phenotype0.89367470
126MP0003632_abnormal_nervous_system0.87836458
127MP0000750_abnormal_muscle_regeneration0.87466546
128MP0002752_abnormal_somatic_nervous0.85711139
129MP0000747_muscle_weakness0.84883439
130MP0001243_abnormal_dermal_layer0.83689559
131MP0005000_abnormal_immune_tolerance0.83205850
132MP0001851_eye_inflammation0.82890676
133MP0004947_skin_inflammation0.82143478
134MP0003123_paternal_imprinting0.81872515
135MP0005384_cellular_phenotype0.81644157
136MP0009785_altered_susceptibility_to0.81030024
137MP0001730_embryonic_growth_arrest0.80815950
138MP0001614_abnormal_blood_vessel0.80708874
139MP0000490_abnormal_crypts_of0.80703299
140MP0010386_abnormal_urinary_bladder0.79864183
141MP0005410_abnormal_fertilization0.79794030
142MP0005670_abnormal_white_adipose0.79677993
143MP0000604_amyloidosis0.79430914
144MP0006036_abnormal_mitochondrial_physio0.79408956
145MP0001299_abnormal_eye_distance/0.78672260
146MP0002998_abnormal_bone_remodeling0.78485536
147MP0005595_abnormal_vascular_smooth0.78463253
148MP0002332_abnormal_exercise_endurance0.77958033
149MP0010030_abnormal_orbit_morphology0.77002392
150MP0009053_abnormal_anal_canal0.76356443
151MP0001216_abnormal_epidermal_layer0.76326792
152MP0004084_abnormal_cardiac_muscle0.75877441
153MP0001963_abnormal_hearing_physiology0.75794433
154MP0003111_abnormal_nucleus_morphology0.75700842
155MP0001502_abnormal_circadian_rhythm0.75597060
156MP0003879_abnormal_hair_cell0.75518994
157MP0005084_abnormal_gallbladder_morpholo0.75486645
158MP0005167_abnormal_blood-brain_barrier0.75112355
159MP0005646_abnormal_pituitary_gland0.74713604
160MP0009763_increased_sensitivity_to0.74709327
161MP0001984_abnormal_olfaction0.74464767
162MP0000350_abnormal_cell_proliferation0.74359869
163MP0002019_abnormal_tumor_incidence0.73601302
164MP0002429_abnormal_blood_cell0.73301256
165MP0004808_abnormal_hematopoietic_stem0.73202725
166MP0003121_genomic_imprinting0.73198245
167MP0002295_abnormal_pulmonary_circulatio0.72749212
168* MP0005620_abnormal_muscle_contractility0.71406901
169MP0004215_abnormal_myocardial_fiber0.70604553
170MP0001664_abnormal_digestion0.70335279
171MP0003786_premature_aging0.69165745
172* MP0005330_cardiomyopathy0.68976511
173MP0010155_abnormal_intestine_physiology0.68924295
174MP0002163_abnormal_gland_morphology0.68041698
175MP0000003_abnormal_adipose_tissue0.67867820
176MP0000631_abnormal_neuroendocrine_gland0.67833439
177MP0003795_abnormal_bone_structure0.67749046
178MP0003787_abnormal_imprinting0.67301474
179* MP0003861_abnormal_nervous_system0.66476894
180MP0003137_abnormal_impulse_conducting0.66335342
181MP0004233_abnormal_muscle_weight0.65956122
182MP0002069_abnormal_eating/drinking_beha0.65469627
183MP0004134_abnormal_chest_morphology0.65114612
184MP0003283_abnormal_digestive_organ0.64822283
185MP0005645_abnormal_hypothalamus_physiol0.64150090
186MP0004510_myositis0.63977700
187MP0001177_atelectasis0.63469068
188MP0002751_abnormal_autonomic_nervous0.62339701
189MP0005187_abnormal_penis_morphology0.58422327
190MP0003385_abnormal_body_wall0.58340508

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)5.41799501
2Focal motor seizures (HP:0011153)5.11789961
3Premature rupture of membranes (HP:0001788)4.67419730
4Neurofibrillary tangles (HP:0002185)4.50807247
5Cerebral inclusion bodies (HP:0100314)4.43099491
6Protrusio acetabuli (HP:0003179)4.07692991
7Vertebral compression fractures (HP:0002953)4.02659221
8Focal seizures (HP:0007359)3.74781898
9Menorrhagia (HP:0000132)3.74380294
10Supranuclear gaze palsy (HP:0000605)3.68627779
11Visual hallucinations (HP:0002367)3.65168164
12Epileptic encephalopathy (HP:0200134)3.50314861
13Petechiae (HP:0000967)3.48143968
14Degeneration of the lateral corticospinal tracts (HP:0002314)3.36960504
15Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.36960504
16Atonic seizures (HP:0010819)3.28297910
17Pheochromocytoma (HP:0002666)3.20074220
18Distal lower limb muscle weakness (HP:0009053)3.18627261
19Retinal dysplasia (HP:0007973)3.11104315
20Reduced subcutaneous adipose tissue (HP:0003758)3.09075914
21Impaired platelet aggregation (HP:0003540)3.08123996
22Abnormal platelet function (HP:0011869)3.08123996
23Insidious onset (HP:0003587)2.98136101
24Termporal pattern (HP:0011008)2.98136101
25Osteolytic defects of the phalanges of the hand (HP:0009771)2.97540716
26Osteolytic defects of the hand bones (HP:0009699)2.97540716
27Cholecystitis (HP:0001082)2.97131652
28Abnormal gallbladder physiology (HP:0012438)2.97131652
29Dysmetria (HP:0001310)2.93802935
30Distal lower limb amyotrophy (HP:0008944)2.92323503
31Neuroendocrine neoplasm (HP:0100634)2.87848105
32Delusions (HP:0000746)2.81156839
33Amblyopia (HP:0000646)2.80723088
34Acute necrotizing encephalopathy (HP:0006965)2.79448183
35Absence seizures (HP:0002121)2.77870600
36Abnormality of glycolysis (HP:0004366)2.77749885
37Increased serum pyruvate (HP:0003542)2.77749885
38Peripheral hypomyelination (HP:0007182)2.75677456
39Increased mean platelet volume (HP:0011877)2.75428411
40Ankle clonus (HP:0011448)2.74587378
41Amyloidosis (HP:0011034)2.71799238
42Spinal rigidity (HP:0003306)2.71675614
43Anxiety (HP:0000739)2.71078035
44Rough bone trabeculation (HP:0100670)2.70687243
45Abnormality of the corticospinal tract (HP:0002492)2.69890398
46Hyperventilation (HP:0002883)2.69659949
47Purpura (HP:0000979)2.69514590
48Hepatosplenomegaly (HP:0001433)2.69335633
49Epistaxis (HP:0000421)2.69138924
50Dialeptic seizures (HP:0011146)2.68468933
51Abnormal platelet volume (HP:0011876)2.67264424
52Action tremor (HP:0002345)2.65914973
53Progressive cerebellar ataxia (HP:0002073)2.62568140
54Polycythemia (HP:0001901)2.62438345
55Hydroureter (HP:0000072)2.59949270
56Trismus (HP:0000211)2.58438024
57Scanning speech (HP:0002168)2.55322498
58Prolonged bleeding time (HP:0003010)2.55168284
59Upper limb muscle weakness (HP:0003484)2.47185450
60Abnormal mitochondria in muscle tissue (HP:0008316)2.46295306
61Megalencephaly (HP:0001355)2.44359520
62Myocardial infarction (HP:0001658)2.42835014
63Vascular tortuosity (HP:0004948)2.38130755
64Increased connective tissue (HP:0009025)2.37783279
65Arterial tortuosity (HP:0005116)2.36970007
66Type II lissencephaly (HP:0007260)2.36735465
67Broad-based gait (HP:0002136)2.32280535
68Achilles tendon contracture (HP:0001771)2.31741259
69Generalized tonic-clonic seizures (HP:0002069)2.31352706
70Thickened helices (HP:0000391)2.30164211
71Progressive macrocephaly (HP:0004481)2.28191200
72Spastic gait (HP:0002064)2.28084788
73Truncal ataxia (HP:0002078)2.27578025
74Distal upper limb amyotrophy (HP:0007149)2.26542883
75Upper limb amyotrophy (HP:0009129)2.26542883
76Axonal loss (HP:0003447)2.25346244
77Aortic dissection (HP:0002647)2.24173545
78Ankle contracture (HP:0006466)2.22863154
79Abnormality of the Achilles tendon (HP:0005109)2.22850779
80Glucose intolerance (HP:0000833)2.21365710
81Atrophic scars (HP:0001075)2.20988306
82Mitochondrial inheritance (HP:0001427)2.20080186
83Cerebral hypomyelination (HP:0006808)2.19751506
84Abnormality of skeletal muscle fiber size (HP:0012084)2.19644748
85Generalized amyotrophy (HP:0003700)2.19292030
86Sensory axonal neuropathy (HP:0003390)2.19205724
87Nonimmune hydrops fetalis (HP:0001790)2.19019058
88Orthostatic hypotension (HP:0001278)2.18628224
89Abnormality of glycolipid metabolism (HP:0010969)2.17825472
90Abnormality of liposaccharide metabolism (HP:0010968)2.17825472
91Abnormality of glycosphingolipid metabolism (HP:0004343)2.17825472
92Rapidly progressive (HP:0003678)2.17562336
93Short nail (HP:0001799)2.17197396
94Dysostosis multiplex (HP:0000943)2.16266051
95Spontaneous hematomas (HP:0007420)2.14416793
96Abnormality of the umbilical cord (HP:0010881)2.14114596
97Depression (HP:0000716)2.12705140
98Cerebral hemorrhage (HP:0001342)2.11268807
99Tetraparesis (HP:0002273)2.10146816
100Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.09067751
101Lower limb muscle weakness (HP:0007340)2.08848649
102Leukodystrophy (HP:0002415)2.06286629
103Wormian bones (HP:0002645)2.04299655
104Hypertensive crisis (HP:0100735)2.03713168
105Fatigue (HP:0012378)2.03653998
106Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.03564897
107Dysdiadochokinesis (HP:0002075)2.00483631
108Cervical subluxation (HP:0003308)2.00256918
109Neoplasm of the peripheral nervous system (HP:0100007)2.00174348
110Poor eye contact (HP:0000817)2.00143525
111Centrally nucleated skeletal muscle fibers (HP:0003687)1.99159256
112Onion bulb formation (HP:0003383)1.97125357
113Aortic aneurysm (HP:0004942)1.96870213
114Cardiovascular calcification (HP:0011915)1.96174555
115Abnormality of the distal phalanges of the toes (HP:0010182)1.95769377
116Hand muscle atrophy (HP:0009130)1.95183177
117Lower limb amyotrophy (HP:0007210)1.94781834
118Acute encephalopathy (HP:0006846)1.92601866
119Hemiparesis (HP:0001269)1.92226674
120Epileptiform EEG discharges (HP:0011182)1.91965623
121Entropion (HP:0000621)1.91947419
122Follicular hyperkeratosis (HP:0007502)1.91465118
123Urinary urgency (HP:0000012)1.91422435
124Blue sclerae (HP:0000592)1.90782084
125Elbow flexion contracture (HP:0002987)1.90777776
126Buphthalmos (HP:0000557)1.90612652
127Joint hemorrhage (HP:0005261)1.90579049
128Vascular calcification (HP:0004934)1.90120069
129Abnormality of macrophages (HP:0004311)1.90054579
130Increased variability in muscle fiber diameter (HP:0003557)1.89511733
131Abnormal trabecular bone morphology (HP:0100671)1.88727558
132Steppage gait (HP:0003376)1.88294037
133Sudden death (HP:0001699)1.87785861
134Absent speech (HP:0001344)1.87756051
135Dilatation of the ascending aorta (HP:0005111)1.86797594
136Fasciculations (HP:0002380)1.86776256
137Fragile skin (HP:0001030)1.86177821
138Heterochromia iridis (HP:0001100)1.86114391
139Onycholysis (HP:0001806)1.86009065
140Abnormal umbilical cord blood vessels (HP:0011403)1.84220124
141Single umbilical artery (HP:0001195)1.84220124
142Abnormality of the fetal cardiovascular system (HP:0010948)1.84220124
143Dysautonomia (HP:0002459)1.83212908
144Type I transferrin isoform profile (HP:0003642)1.83029462
145Diplopia (HP:0000651)1.82724985
146Abnormality of binocular vision (HP:0011514)1.82724985
147Gingival bleeding (HP:0000225)1.81630908
148Abnormal autonomic nervous system physiology (HP:0012332)1.81080080
149Growth hormone excess (HP:0000845)1.80402848
150Muscle hypertrophy of the lower extremities (HP:0008968)1.79434811
151Difficulty climbing stairs (HP:0003551)1.79274378
152Polygenic inheritance (HP:0010982)1.79045613
153Autoamputation (HP:0001218)1.77478302
154Progressive inability to walk (HP:0002505)1.76749241
155Spondylolisthesis (HP:0003302)1.76484400
156Postnatal microcephaly (HP:0005484)1.75815006
157Impaired vibration sensation in the lower limbs (HP:0002166)1.75659953
158Excessive salivation (HP:0003781)1.75546535
159Drooling (HP:0002307)1.75546535
160Parakeratosis (HP:0001036)1.75468294
161Deep palmar crease (HP:0006191)1.75366532
162Elevated erythrocyte sedimentation rate (HP:0003565)1.74225825
163Psychosis (HP:0000709)1.74114492
164Ulnar claw (HP:0001178)1.73695572
165Intention tremor (HP:0002080)1.73678359
166Generalized myoclonic seizures (HP:0002123)1.72972617
167Nail dystrophy (HP:0008404)1.72574041
168Foot dorsiflexor weakness (HP:0009027)1.72370490
169Hypertriglyceridemia (HP:0002155)1.72327914
170Cerebral aneurysm (HP:0004944)1.71976239
171Abnormality of the foot musculature (HP:0001436)1.70734551
172EEG with generalized epileptiform discharges (HP:0011198)1.70681838
173Nuclear cataract (HP:0100018)1.70125733
174Clumsiness (HP:0002312)1.70037348
175Febrile seizures (HP:0002373)1.69155990
176Interstitial pulmonary disease (HP:0006530)1.68526467
177Abnormalities of placenta or umbilical cord (HP:0001194)1.68364445
178Hypokinesia (HP:0002375)1.67975437
179Bruising susceptibility (HP:0000978)1.67654291
180Gaze-evoked nystagmus (HP:0000640)1.67130495
181Abnormal eating behavior (HP:0100738)1.67023619
182Broad face (HP:0000283)1.66999719
183Hepatocellular necrosis (HP:0001404)1.66079103
184Hammertoe (HP:0001765)1.65997248
185Congenital malformation of the right heart (HP:0011723)1.65365741
186Double outlet right ventricle (HP:0001719)1.65365741
187Vaginal atresia (HP:0000148)1.63998648
188Sparse eyelashes (HP:0000653)1.63506967
189Insulin resistance (HP:0000855)1.63039557
190Split foot (HP:0001839)1.62984365
191X-linked dominant inheritance (HP:0001423)1.62923708
192Reduced antithrombin III activity (HP:0001976)1.62566932
193Limb-girdle muscle atrophy (HP:0003797)1.62501594
194Increased CSF lactate (HP:0002490)1.60912835
195Apathy (HP:0000741)1.60331603
196Urinary bladder sphincter dysfunction (HP:0002839)1.60214904
197Genital tract atresia (HP:0001827)1.59994440

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.65202064
2VRK23.60417147
3NTRK33.56017243
4NME23.27303133
5STK392.74675704
6MINK12.61478743
7MAP3K92.57329736
8KSR22.50030077
9RIPK42.46821358
10ARAF2.46370535
11ERN12.43102589
12BCR2.40735496
13PAK42.35441956
14NTRK12.26176600
15IRAK32.24521412
16EPHA22.19267525
17PTK2B2.19019120
18PLK22.16468045
19LIMK12.13330895
20PNCK2.09255234
21MAP3K122.02890549
22TGFBR21.93952162
23OXSR11.90676675
24PIM21.90357967
25BUB11.77395765
26SCYL21.75500389
27PAK61.75006345
28CDK191.73194278
29EIF2AK11.72881710
30MAP3K41.70750352
31LMTK21.70068225
32KSR11.69565715
33UHMK11.64404362
34PRKD31.64326232
35TAOK21.62178870
36SMG11.58691617
37WNK41.54416288
38MARK11.45582198
39CDK141.44959288
40CASK1.43887360
41CAMK2B1.42792243
42GRK51.41639636
43BMPR21.37216671
44MAP2K71.36991351
45BCKDK1.34029994
46CDK51.32371059
47NME11.30986139
48PRPF4B1.30023320
49FGR1.28201030
50CAMK2A1.25865437
51MAP3K111.24839220
52MAP3K31.23354557
53STK101.21650585
54CDK181.18913723
55MAP3K131.18111337
56TESK21.17352297
57MST41.15868006
58ROCK21.15615947
59LATS21.13954220
60CDK151.12227733
61MAP2K31.11866609
62MST1R1.10563399
63TESK11.09625099
64PAK31.08973953
65ABL21.08963778
66DAPK11.08553320
67ZAP701.06615049
68RAF11.05740682
69CDK11A1.00705692
70CAMK2D1.00658587
71DAPK20.98734731
72FER0.98307891
73LRRK20.96975700
74MAP3K20.96967266
75ERBB40.96951856
76FES0.95327410
77MAPKAPK50.95052373
78NEK10.95025298
79EPHB20.94865318
80CDK80.92107949
81TYRO30.91814855
82TNIK0.91295702
83WNK10.90657158
84SIK30.89320113
85PRKCG0.88573549
86MAP2K40.88231073
87FLT30.86224383
88BMX0.84038739
89MET0.83873747
90MAPKAPK30.80862121
91DMPK0.80377434
92STK160.80078425
93MYLK0.79448523
94PDGFRA0.75582486
95TBK10.71951190
96BRAF0.71910553
97PRKCE0.71223143
98DAPK30.68988618
99CSNK1G20.68355069
100MOS0.68262563
101MAPK130.66631530
102MAP3K80.66344229
103MAP2K10.62019451
104ICK0.61987628
105TRIB30.61486747
106CSNK1G30.61222756
107MAP3K10.61028443
108PRKG20.59540319
109CDK70.59424529
110CAMK2G0.58696759
111NTRK20.58602043
112SRPK10.57875286
113SGK4940.56177605
114SGK2230.56177605
115DYRK1A0.55023485
116CLK10.51457606
117CSNK1A1L0.50705180
118AURKA0.50164522
119MARK20.49689753
120NEK60.49503056
121PAK20.49219308
122DYRK20.48748858
123TYK20.48295651
124RET0.48205897
125MAPKAPK20.47965613
126OBSCN0.46981286
127PKN10.46150510
128KDR0.45402437
129EPHB10.45109393
130JAK30.44467818
131FYN0.43565951
132TTN0.43546254
133CAMKK20.43232301
134CDK90.42995883
135ILK0.42867329
136BRSK10.42148278
137CAMKK10.41754667
138PTK20.41316095
139PBK0.41189437
140PRKCQ0.40883504
141PDPK10.40631984
142CSK0.39584195
143PAK10.39568451
144CAMK10.37050054
145TIE10.36404485
146STK380.35359842
147PTK60.35091290
148ADRBK10.34884537
149GSK3A0.34438730
150PRKD20.33780626
151MAPK100.32142223
152PRKD10.31475961
153PHKG20.30610189
154HIPK20.29734893
155MAP3K50.29380464
156RIPK10.28349569
157TEC0.25779734
158NEK90.24974734
159SRC0.23416080

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050332.83082510
2Long-term potentiation_Homo sapiens_hsa047202.70610176
3Oxidative phosphorylation_Homo sapiens_hsa001902.44306370
4Circadian entrainment_Homo sapiens_hsa047132.35739083
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.35229126
6Amphetamine addiction_Homo sapiens_hsa050312.34794358
7Pentose phosphate pathway_Homo sapiens_hsa000302.30445388
8Synaptic vesicle cycle_Homo sapiens_hsa047212.30152561
9Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.28056327
10Glutamatergic synapse_Homo sapiens_hsa047242.23344044
11Glycosaminoglycan degradation_Homo sapiens_hsa005312.19413712
12DNA replication_Homo sapiens_hsa030302.18604971
13Dopaminergic synapse_Homo sapiens_hsa047282.12245161
14GABAergic synapse_Homo sapiens_hsa047272.11641823
15Parkinsons disease_Homo sapiens_hsa050122.09682711
16Morphine addiction_Homo sapiens_hsa050322.03453236
17Alzheimers disease_Homo sapiens_hsa050102.03320665
18Cardiac muscle contraction_Homo sapiens_hsa042601.95448549
19Serotonergic synapse_Homo sapiens_hsa047261.90009916
202-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.89129487
21Long-term depression_Homo sapiens_hsa047301.87427291
22Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.86557309
23Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.85827383
24Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.85811629
25Olfactory transduction_Homo sapiens_hsa047401.84711359
26Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.81410225
27Collecting duct acid secretion_Homo sapiens_hsa049661.77534576
28Salivary secretion_Homo sapiens_hsa049701.76995554
29Other glycan degradation_Homo sapiens_hsa005111.75087560
30Vibrio cholerae infection_Homo sapiens_hsa051101.73886290
31Base excision repair_Homo sapiens_hsa034101.70235764
32Renin secretion_Homo sapiens_hsa049241.67038852
33Bladder cancer_Homo sapiens_hsa052191.65777796
34Galactose metabolism_Homo sapiens_hsa000521.62703087
35Glutathione metabolism_Homo sapiens_hsa004801.58690308
36Cholinergic synapse_Homo sapiens_hsa047251.57686450
37Axon guidance_Homo sapiens_hsa043601.57423783
38Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.56396259
39Taste transduction_Homo sapiens_hsa047421.54210143
40Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.53843878
41Gastric acid secretion_Homo sapiens_hsa049711.53732460
42Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.52370136
43Oxytocin signaling pathway_Homo sapiens_hsa049211.52293506
44Biosynthesis of amino acids_Homo sapiens_hsa012301.51814397
45Cocaine addiction_Homo sapiens_hsa050301.49765083
46N-Glycan biosynthesis_Homo sapiens_hsa005101.47585528
47Insulin secretion_Homo sapiens_hsa049111.46863550
48Pyrimidine metabolism_Homo sapiens_hsa002401.46759168
49Huntingtons disease_Homo sapiens_hsa050161.44329649
50Gap junction_Homo sapiens_hsa045401.41608562
51Focal adhesion_Homo sapiens_hsa045101.36391849
52Leukocyte transendothelial migration_Homo sapiens_hsa046701.36246416
53Mismatch repair_Homo sapiens_hsa034301.35925846
54Calcium signaling pathway_Homo sapiens_hsa040201.31650666
55Aldosterone synthesis and secretion_Homo sapiens_hsa049251.28990051
56ECM-receptor interaction_Homo sapiens_hsa045121.27692710
57GnRH signaling pathway_Homo sapiens_hsa049121.27661158
58Carbon metabolism_Homo sapiens_hsa012001.25492803
59Fructose and mannose metabolism_Homo sapiens_hsa000511.25003192
60Pancreatic cancer_Homo sapiens_hsa052121.24651771
61Viral myocarditis_Homo sapiens_hsa054161.22718952
62Vascular smooth muscle contraction_Homo sapiens_hsa042701.19314969
63Sulfur relay system_Homo sapiens_hsa041221.18384797
64Lysosome_Homo sapiens_hsa041421.17307351
65Thyroid cancer_Homo sapiens_hsa052161.16669729
66Melanogenesis_Homo sapiens_hsa049161.16074106
67Oocyte meiosis_Homo sapiens_hsa041141.13715706
68Chronic myeloid leukemia_Homo sapiens_hsa052201.06851693
69Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.05355639
70cAMP signaling pathway_Homo sapiens_hsa040241.03992826
71Protein export_Homo sapiens_hsa030601.03260310
72Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.01913501
73cGMP-PKG signaling pathway_Homo sapiens_hsa040221.01876784
74Nucleotide excision repair_Homo sapiens_hsa034201.00720033
75Apoptosis_Homo sapiens_hsa042101.00467714
76Glioma_Homo sapiens_hsa052140.98592819
77Folate biosynthesis_Homo sapiens_hsa007900.98508946
78Proteoglycans in cancer_Homo sapiens_hsa052050.98241386
79Sulfur metabolism_Homo sapiens_hsa009200.96643552
80Estrogen signaling pathway_Homo sapiens_hsa049150.96511691
81Small cell lung cancer_Homo sapiens_hsa052220.94977651
82Hematopoietic cell lineage_Homo sapiens_hsa046400.93556553
83Dilated cardiomyopathy_Homo sapiens_hsa054140.92592195
84Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.92179840
85Platelet activation_Homo sapiens_hsa046110.90580087
86Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.90317815
87VEGF signaling pathway_Homo sapiens_hsa043700.90250805
88Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.90086292
89Phototransduction_Homo sapiens_hsa047440.89233886
90Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.87104245
91ErbB signaling pathway_Homo sapiens_hsa040120.86898322
92Adherens junction_Homo sapiens_hsa045200.84331439
93Central carbon metabolism in cancer_Homo sapiens_hsa052300.83574590
94Pertussis_Homo sapiens_hsa051330.83284094
95Renal cell carcinoma_Homo sapiens_hsa052110.83079680
96Ras signaling pathway_Homo sapiens_hsa040140.81999207
97Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.81784367
98Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.80156608
99Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.80034729
100Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.79951923
101Sphingolipid signaling pathway_Homo sapiens_hsa040710.78702686
102Pancreatic secretion_Homo sapiens_hsa049720.78363939
103Amoebiasis_Homo sapiens_hsa051460.76871786
104Epstein-Barr virus infection_Homo sapiens_hsa051690.76653835
105Tight junction_Homo sapiens_hsa045300.76289049
106Phospholipase D signaling pathway_Homo sapiens_hsa040720.74747266
107Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.74615413
108Ether lipid metabolism_Homo sapiens_hsa005650.74441737
109Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.74169164
110Rap1 signaling pathway_Homo sapiens_hsa040150.71179252
111RNA polymerase_Homo sapiens_hsa030200.68409896
112Endocytosis_Homo sapiens_hsa041440.67983738
113Legionellosis_Homo sapiens_hsa051340.67698123
114p53 signaling pathway_Homo sapiens_hsa041150.67384389
115Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.66724051
116Dorso-ventral axis formation_Homo sapiens_hsa043200.66484516
117Hepatitis B_Homo sapiens_hsa051610.65922756
118Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.65653127
119Choline metabolism in cancer_Homo sapiens_hsa052310.65156259
120Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.64693105
121SNARE interactions in vesicular transport_Homo sapiens_hsa041300.64538584
122Phosphatidylinositol signaling system_Homo sapiens_hsa040700.64472289
123Antigen processing and presentation_Homo sapiens_hsa046120.64026594
124Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.62547311
125Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.62100396
126Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.61740529
127Wnt signaling pathway_Homo sapiens_hsa043100.61197463
128Fatty acid elongation_Homo sapiens_hsa000620.61087114
129Steroid biosynthesis_Homo sapiens_hsa001000.60917326
130Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.60248640
131Toxoplasmosis_Homo sapiens_hsa051450.58160493
132Acute myeloid leukemia_Homo sapiens_hsa052210.58085742
133MAPK signaling pathway_Homo sapiens_hsa040100.57443199
134Spliceosome_Homo sapiens_hsa030400.57019093
135Thyroid hormone synthesis_Homo sapiens_hsa049180.56421326
136Herpes simplex infection_Homo sapiens_hsa051680.56246304
137Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.56017520
138Shigellosis_Homo sapiens_hsa051310.55967331
139HTLV-I infection_Homo sapiens_hsa051660.55902695
140Leishmaniasis_Homo sapiens_hsa051400.55884581
141Non-small cell lung cancer_Homo sapiens_hsa052230.55287046
142Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.55207722
143Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.55008218
144Regulation of actin cytoskeleton_Homo sapiens_hsa048100.54882064
145Malaria_Homo sapiens_hsa051440.53272362
146Cell cycle_Homo sapiens_hsa041100.52913185
147HIF-1 signaling pathway_Homo sapiens_hsa040660.52463761
148Tuberculosis_Homo sapiens_hsa051520.51838390
149Influenza A_Homo sapiens_hsa051640.50500502
150AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.50099331
151Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.49549674
152Rheumatoid arthritis_Homo sapiens_hsa053230.48825059
153Proteasome_Homo sapiens_hsa030500.47507914
154Hedgehog signaling pathway_Homo sapiens_hsa043400.46976721
155Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.46684028
156Neurotrophin signaling pathway_Homo sapiens_hsa047220.46664982
157Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.46549671
158Alcoholism_Homo sapiens_hsa050340.45443909
159Measles_Homo sapiens_hsa051620.45077786
160Viral carcinogenesis_Homo sapiens_hsa052030.43985216
161Purine metabolism_Homo sapiens_hsa002300.43709994
162Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.43258232
163Prion diseases_Homo sapiens_hsa050200.42616431
164African trypanosomiasis_Homo sapiens_hsa051430.40646454
165Salmonella infection_Homo sapiens_hsa051320.40590274
166Pyruvate metabolism_Homo sapiens_hsa006200.40359206
167Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.39632603
168Phagosome_Homo sapiens_hsa041450.39318970
169PI3K-Akt signaling pathway_Homo sapiens_hsa041510.38707517
170Hippo signaling pathway_Homo sapiens_hsa043900.38525014
171Osteoclast differentiation_Homo sapiens_hsa043800.38094704
172Toll-like receptor signaling pathway_Homo sapiens_hsa046200.38027054
173NF-kappa B signaling pathway_Homo sapiens_hsa040640.34787870
174Type II diabetes mellitus_Homo sapiens_hsa049300.33788549
175Glucagon signaling pathway_Homo sapiens_hsa049220.29602729

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