PNPLA6

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 phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)4.32845294
2negative regulation of erythrocyte differentiation (GO:0045647)4.21066784
3protein localization to endosome (GO:0036010)3.91684804
4mannose metabolic process (GO:0006013)3.84378518
5cytoskeletal anchoring at plasma membrane (GO:0007016)3.79564304
6positive regulation by symbiont of host defense response (GO:0052509)3.70911251
7modulation by symbiont of host defense response (GO:0052031)3.70911251
8modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.70911251
9modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.70911251
10positive regulation by organism of defense response of other organism involved in symbiotic interact3.70911251
11modulation by symbiont of host immune response (GO:0052553)3.70911251
12locomotory exploration behavior (GO:0035641)3.69735246
13gamma-aminobutyric acid transport (GO:0015812)3.65698597
14synaptic vesicle maturation (GO:0016188)3.65606740
15sodium ion export (GO:0071436)3.64782381
16negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.61080273
17negative regulation of cell killing (GO:0031342)3.61080273
18antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.56797174
19barbed-end actin filament capping (GO:0051016)3.55707177
20response to peptidoglycan (GO:0032494)3.54955799
21regulation of cholesterol homeostasis (GO:2000188)3.50122704
22antigen processing and presentation of endogenous antigen (GO:0019883)3.45840060
23negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.44301551
24glutamate secretion (GO:0014047)3.42588172
25layer formation in cerebral cortex (GO:0021819)3.39307354
26antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.37122836
27positive regulation of gamma-delta T cell activation (GO:0046645)3.35537080
28positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.32785729
29macrophage activation involved in immune response (GO:0002281)3.29179652
30detection of other organism (GO:0098543)3.27849889
31proline transport (GO:0015824)3.26575052
32dicarboxylic acid biosynthetic process (GO:0043650)3.23722271
33phosphate ion transmembrane transport (GO:0035435)3.21067470
34antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.20430933
35cellular potassium ion homeostasis (GO:0030007)3.20236127
36detection of bacterium (GO:0016045)3.19203089
37phosphate ion transport (GO:0006817)3.17662124
38histone H3-K4 trimethylation (GO:0080182)3.14260040
39regulation of leukocyte degranulation (GO:0043300)3.14152930
40regulation of gene silencing by RNA (GO:0060966)3.12202656
41regulation of posttranscriptional gene silencing (GO:0060147)3.12202656
42regulation of gene silencing by miRNA (GO:0060964)3.12202656
43response to muramyl dipeptide (GO:0032495)3.11727848
44neutrophil activation involved in immune response (GO:0002283)3.10090722
45vocalization behavior (GO:0071625)3.10051872
46glycine transport (GO:0015816)3.09999243
47stress fiber assembly (GO:0043149)3.09031115
48anterior/posterior axis specification, embryo (GO:0008595)3.07769742
49pre-miRNA processing (GO:0031054)3.04976590
50positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.04041694
51neurotransmitter secretion (GO:0007269)3.02056590
52determination of adult lifespan (GO:0008340)3.00335058
53pinocytosis (GO:0006907)2.99618553
54regulation of myeloid leukocyte mediated immunity (GO:0002886)2.98248958
55response to laminar fluid shear stress (GO:0034616)2.97471711
56alanine transport (GO:0032328)2.97223940
57regulation of hippo signaling (GO:0035330)2.96115854
58regulation of early endosome to late endosome transport (GO:2000641)2.95145512
59neuromuscular process controlling balance (GO:0050885)2.94960050
60glutamate metabolic process (GO:0006536)2.92722843
61detection of external biotic stimulus (GO:0098581)2.84661956
62presynaptic membrane organization (GO:0097090)2.83267296
63cellular extravasation (GO:0045123)2.82186934
64regulation of T-helper 2 cell differentiation (GO:0045628)2.81500129
65exploration behavior (GO:0035640)2.80294866
66regulation of mast cell degranulation (GO:0043304)2.80228701
67ethanol oxidation (GO:0006069)2.78679421
68macroautophagy (GO:0016236)2.77316335
69vesicle transport along microtubule (GO:0047496)2.77060049
70modulation by symbiont of host cellular process (GO:0044068)2.76860638
71phospholipid homeostasis (GO:0055091)2.76532808
72positive regulation of receptor recycling (GO:0001921)2.75343120
73positive regulation of Cdc42 GTPase activity (GO:0043089)2.74293777
74L-amino acid import (GO:0043092)2.74267638
75synaptic vesicle endocytosis (GO:0048488)2.69979474
76detection of molecule of bacterial origin (GO:0032490)2.69443223
77histone H3-K9 demethylation (GO:0033169)2.69173154
78lipopolysaccharide-mediated signaling pathway (GO:0031663)2.68648473
79regulation of protein polyubiquitination (GO:1902914)2.67978623
80regulation of interferon-beta biosynthetic process (GO:0045357)2.66384028
81ionotropic glutamate receptor signaling pathway (GO:0035235)2.65629571
82germinal center formation (GO:0002467)2.65444757
83positive thymic T cell selection (GO:0045059)2.64665987
84negative regulation of interleukin-12 production (GO:0032695)2.63765687
85regulation of clathrin-mediated endocytosis (GO:2000369)2.63762613
86regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.62196983
87positive regulation of synapse maturation (GO:0090129)2.62150576
88leukocyte aggregation (GO:0070486)2.61848256
89regulation of glutamate receptor signaling pathway (GO:1900449)2.61071033
90regulation of extracellular matrix disassembly (GO:0010715)2.60712077
91regulation of regulated secretory pathway (GO:1903305)2.60101412
92apoptotic cell clearance (GO:0043277)2.58275644
93histone H3-K36 demethylation (GO:0070544)2.57393751
94cerebellar Purkinje cell differentiation (GO:0021702)2.56028746
95positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.55870202
96regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.55277070
97cortical actin cytoskeleton organization (GO:0030866)2.54773449
98neuromuscular process controlling posture (GO:0050884)2.54408674
99drug catabolic process (GO:0042737)2.53459714
100cell-substrate junction assembly (GO:0007044)2.52233626
101neurotransmitter transport (GO:0006836)2.51986842
102detection of biotic stimulus (GO:0009595)2.50794035
103positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.50575576
104modulation by virus of host process (GO:0019054)2.50309776
105positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.50178262
106positive regulation of cellular amide metabolic process (GO:0034250)2.49355510
107NIK/NF-kappaB signaling (GO:0038061)2.49240132
108regulation of gamma-delta T cell activation (GO:0046643)2.48867198
109cell-cell junction maintenance (GO:0045217)2.47955592
110cysteine metabolic process (GO:0006534)2.47933815
111signal complex assembly (GO:0007172)2.46598021
112regulation of neuronal synaptic plasticity (GO:0048168)2.46495346
113synaptic vesicle docking involved in exocytosis (GO:0016081)2.46408391
114cell migration in hindbrain (GO:0021535)2.45137722
115regulation of mast cell activation involved in immune response (GO:0033006)2.44263770
116cell junction maintenance (GO:0034331)2.43955152
117synaptic vesicle exocytosis (GO:0016079)2.43320039
118exogenous drug catabolic process (GO:0042738)2.43135815
119regulation of long-term neuronal synaptic plasticity (GO:0048169)2.42859409
120sulfur amino acid catabolic process (GO:0000098)2.42567598
121positive regulation of leukocyte degranulation (GO:0043302)2.41924484
122immunoglobulin mediated immune response (GO:0016064)2.41168274
123filopodium assembly (GO:0046847)2.39902797
124regulation of translational termination (GO:0006449)2.39286747
125organelle transport along microtubule (GO:0072384)2.39270405
126regulation of synaptic vesicle exocytosis (GO:2000300)2.38627696
127regulation of defense response to virus by virus (GO:0050690)2.38042596
128cellular response to thyroid hormone stimulus (GO:0097067)2.37414419
129response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.37371934
130response to host (GO:0075136)2.37371934
131response to host defenses (GO:0052200)2.37371934
132activation of Rac GTPase activity (GO:0032863)2.37303695
133negative regulation of hormone biosynthetic process (GO:0032353)2.36944473
134negative regulation of hormone metabolic process (GO:0032351)2.36944473
135cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.36808498
136negative regulation of toll-like receptor signaling pathway (GO:0034122)2.36526337
137thymic T cell selection (GO:0045061)2.36441955
138glycosphingolipid catabolic process (GO:0046479)2.35664979
139negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.35334180
140regulation of macrophage cytokine production (GO:0010935)2.35156044
141negative regulation of translation, ncRNA-mediated (GO:0040033)2.35017585
142regulation of translation, ncRNA-mediated (GO:0045974)2.35017585
143negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.35017585
144regulation of neurotransmitter levels (GO:0001505)2.34472114
145epithelial cell differentiation involved in prostate gland development (GO:0060742)2.33787720
146receptor recycling (GO:0001881)2.33714101
147peptide catabolic process (GO:0043171)2.33485502
148synaptic transmission, glutamatergic (GO:0035249)2.33432881
149Golgi transport vesicle coating (GO:0048200)2.33259717
150COPI coating of Golgi vesicle (GO:0048205)2.33259717
151apoptotic process involved in morphogenesis (GO:0060561)2.33113813
152cellular modified amino acid catabolic process (GO:0042219)2.33024396
153regulation of ARF GTPase activity (GO:0032312)2.32930817
154embryonic process involved in female pregnancy (GO:0060136)2.32772363
155amino acid import (GO:0043090)2.32345025
156semaphorin-plexin signaling pathway (GO:0071526)2.32198556
157regulation of ARF protein signal transduction (GO:0032012)2.31675300
158L-phenylalanine catabolic process (GO:0006559)2.31545509
159erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.31545509
160regulation of synapse maturation (GO:0090128)2.30776480
161antigen processing and presentation via MHC class Ib (GO:0002475)2.30379093
162response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.30354568
163response to host immune response (GO:0052572)2.30354568
164hemidesmosome assembly (GO:0031581)2.30328624
165C4-dicarboxylate transport (GO:0015740)2.30323710
166cell-substrate adherens junction assembly (GO:0007045)2.30236012
167focal adhesion assembly (GO:0048041)2.30236012
168regulation of dendritic cell antigen processing and presentation (GO:0002604)2.30083400
169vitamin transmembrane transport (GO:0035461)2.29750260
170glutamine family amino acid catabolic process (GO:0009065)2.28848100
171adherens junction assembly (GO:0034333)2.28681373
172neutral amino acid transport (GO:0015804)2.28500081
173cellular response to ammonium ion (GO:0071242)2.28449580
174histone H4-K12 acetylation (GO:0043983)2.28101042
175positive regulation of protein dephosphorylation (GO:0035307)2.27881430
176amino sugar catabolic process (GO:0046348)2.27874629
177negative regulation of leukocyte mediated immunity (GO:0002704)2.27842512
178membrane hyperpolarization (GO:0060081)2.26999040
179regulation of type I interferon-mediated signaling pathway (GO:0060338)2.26923070
180histone H4-K5 acetylation (GO:0043981)2.26000516
181histone H4-K8 acetylation (GO:0043982)2.26000516
182stress granule assembly (GO:0034063)2.25869302
183erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.24457258
184L-phenylalanine metabolic process (GO:0006558)2.24457258
185respiratory burst (GO:0045730)2.24347831
186regulation of Rap GTPase activity (GO:0032317)2.24326221
187intestinal epithelial cell development (GO:0060576)2.23740518
188cortical cytoskeleton organization (GO:0030865)2.23327082
189potassium ion import (GO:0010107)2.23321946
190cellular sodium ion homeostasis (GO:0006883)2.22887216
191adenosine receptor signaling pathway (GO:0001973)2.22649814
192regulation of superoxide anion generation (GO:0032928)2.22039726
193dicarboxylic acid catabolic process (GO:0043649)2.21560866
194serine family amino acid catabolic process (GO:0009071)2.21461409
195regulation of bile acid biosynthetic process (GO:0070857)2.21103727
196phagocytosis (GO:0006909)2.20351128
197activation of JUN kinase activity (GO:0007257)2.18173525

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SMAD3_22036565_ChIP-Seq_ESCs_Mouse3.52263590
2EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse3.16022986
3TP63_17297297_ChIP-ChIP_HaCaT_Human2.92114901
4VDR_21846776_ChIP-Seq_THP-1_Human2.83932013
5* NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.68757196
6* ELK3_25401928_ChIP-Seq_HUVEC_Human2.62284943
7NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.57271733
8RARG_19884340_ChIP-ChIP_MEFs_Mouse2.55751288
9NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.43410334
10MYC_22102868_ChIP-Seq_BL_Human2.38341899
11POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.31725444
12SALL4_18804426_ChIP-ChIP_MESCs_Mouse2.26993474
13ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.26440911
14KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.25393064
15KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.25393064
16KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.25393064
17* ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.21937889
18BP1_19119308_ChIP-ChIP_Hs578T_Human2.21003798
19SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.19021013
20TCF7_22412390_ChIP-Seq_EML_Mouse2.18805868
21ESR2_21235772_ChIP-Seq_MCF-7_Human2.09900092
22DROSHA_22980978_ChIP-Seq_HELA_Human2.09522749
23VDR_24763502_ChIP-Seq_THP-1_Human2.05492576
24IRF8_22096565_ChIP-ChIP_GC-B_Human2.04616875
25SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.03381327
26ZFP281_18757296_ChIP-ChIP_E14_Mouse1.95551499
27RARB_27405468_Chip-Seq_BRAIN_Mouse1.91559257
28MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.91203495
29* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.89509779
30SALL1_21062744_ChIP-ChIP_HESCs_Human1.89020902
31SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.88887802
32TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.85307131
33ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.84784975
34NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.84616893
35NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.83644498
36NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.83317461
37ERG_21242973_ChIP-ChIP_JURKAT_Human1.82410805
38TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.80802673
39EGR1_19374776_ChIP-ChIP_THP-1_Human1.80641435
40RXR_22158963_ChIP-Seq_LIVER_Mouse1.77951660
41KDM2B_26808549_Chip-Seq_K562_Human1.76646326
42CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.72462329
43MAF_26560356_Chip-Seq_TH1_Human1.71362790
44ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.69543288
45LXR_22158963_ChIP-Seq_LIVER_Mouse1.69086680
46MYB_21317192_ChIP-Seq_ERMYB_Mouse1.67657304
47* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.66488585
48* RUNX1_22412390_ChIP-Seq_EML_Mouse1.64522490
49RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.61927116
50TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.61524832
51POU5F1_16518401_ChIP-PET_MESCs_Mouse1.61105711
52NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.59666658
53E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.57413472
54* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.56760282
55NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.56496282
56TCF3_18692474_ChIP-Seq_MESCs_Mouse1.55085431
57ESR1_21235772_ChIP-Seq_MCF-7_Human1.54906695
58GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.54275688
59IRF8_27001747_Chip-Seq_BMDM_Mouse1.54100408
60RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.53868308
61* PPARA_22158963_ChIP-Seq_LIVER_Mouse1.53642975
62AHR_22903824_ChIP-Seq_MCF-7_Human1.52360798
63SPI1_23127762_ChIP-Seq_K562_Human1.50038674
64KDM2B_26808549_Chip-Seq_SUP-B15_Human1.49922744
65* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.48628430
66UTX_26944678_Chip-Seq_JUKART_Human1.48475215
67UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.45372909
68GATA1_19941827_ChIP-Seq_MEL_Mouse1.43364426
69TCF3_18692474_ChIP-Seq_MEFs_Mouse1.42721858
70IRF8_21731497_ChIP-ChIP_J774_Mouse1.40756836
71* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.38659287
72FOXA2_19822575_ChIP-Seq_HepG2_Human1.38193734
73* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.37320377
74ESR1_15608294_ChIP-ChIP_MCF-7_Human1.37283783
75ZNF263_19887448_ChIP-Seq_K562_Human1.37128595
76P68_20966046_ChIP-Seq_HELA_Human1.36899828
77REST_21632747_ChIP-Seq_MESCs_Mouse1.36719367
78MAF_26560356_Chip-Seq_TH2_Human1.35804429
79KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.34873357
80RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.34368971
81GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.34033762
82CLOCK_20551151_ChIP-Seq_293T_Human1.33961819
83PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.32766137
84* SA1_27219007_Chip-Seq_ERYTHROID_Human1.32329748
85WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.32072573
86DNAJC2_21179169_ChIP-ChIP_NT2_Human1.31701119
87PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.31352309
88RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.28594166
89TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.27914273
90THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.27797328
91CDX2_20551321_ChIP-Seq_CACO-2_Human1.27765024
92STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.27098011
93MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.26984220
94* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.24962549
95* TET1_21451524_ChIP-Seq_MESCs_Mouse1.23876777
96TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.22999029
97ZNF217_24962896_ChIP-Seq_MCF-7_Human1.22578059
98PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.22290412
99RACK7_27058665_Chip-Seq_MCF-7_Human1.22237264
100STAT4_19710469_ChIP-ChIP_TH1__Mouse1.22200540
101* CREB1_26743006_Chip-Seq_LNCaP_Human1.21409480
102ARNT_22903824_ChIP-Seq_MCF-7_Human1.20792941
103SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.20389176
104MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.20327301
105STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.20083910
106CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.19882540
107NANOG_18692474_ChIP-Seq_MESCs_Mouse1.19276243
108REST_18959480_ChIP-ChIP_MESCs_Mouse1.19179893
109FOXO3_23340844_ChIP-Seq_DLD1_Human1.19071393
110WT1_25993318_ChIP-Seq_PODOCYTE_Human1.18896879
111SOX2_27498859_Chip-Seq_STOMACH_Mouse1.17505528
112CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.16979515
113SRY_22984422_ChIP-ChIP_TESTIS_Rat1.16597292
114KDM2B_26808549_Chip-Seq_DND41_Human1.16446799
115STAT6_21828071_ChIP-Seq_BEAS2B_Human1.15885225
116BCOR_27268052_Chip-Seq_Bcells_Human1.15618320
117NCOR1_26117541_ChIP-Seq_K562_Human1.14954632
118KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.14549310
119SCL_19346495_ChIP-Seq_HPC-7_Human1.13888013
120PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.12287024
121* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.11770362
122TP53_22127205_ChIP-Seq_IMR90_Human1.11333749
123* GATA1_19941826_ChIP-Seq_K562_Human1.11283347
124TBX3_20139965_ChIP-Seq_ESCs_Mouse1.11171468
125* ELF1_20517297_ChIP-Seq_JURKAT_Human1.11146312
126TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.10927947
127POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.10426128
128TBX3_20139965_ChIP-Seq_MESCs_Mouse1.10347984
129VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.10082869
130LXR_22292898_ChIP-Seq_THP-1_Human1.09839060
131SOX2_18692474_ChIP-Seq_MESCs_Mouse1.09799411
132Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.09787288
133SPI1_23547873_ChIP-Seq_NB4_Human1.09213308
134GATA2_21666600_ChIP-Seq_HMVEC_Human1.09172085
135KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.09035507
136BCL6_27268052_Chip-Seq_Bcells_Human1.08516987
137STAT3_1855785_ChIP-Seq_MESCs_Mouse1.08242501
138SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.06942239
139RUNX1_27514584_Chip-Seq_MCF-7_Human1.06408132
140GATA1_26923725_Chip-Seq_HPCs_Mouse1.06236467
141NANOG_16518401_ChIP-PET_MESCs_Mouse1.05837303
142P300_27058665_Chip-Seq_ZR-75-30cells_Human1.05564077
143ATF3_27146783_Chip-Seq_COLON_Human1.04723667
144CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.03853274
145SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.03169826
146CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.02862670
147CTNNB1_20460455_ChIP-Seq_HCT116_Human1.02357945
148* PU.1_20513432_ChIP-Seq_Bcells_Mouse1.02286221
149FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.01539574
150SMC4_20622854_ChIP-Seq_HELA_Human1.01471767
151CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.01332349
152GBX2_23144817_ChIP-Seq_PC3_Human1.01180300
153SMAD3_21741376_ChIP-Seq_HESCs_Human1.00744026
154KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.00056460
155ESR1_20079471_ChIP-ChIP_T-47D_Human1.00042876
156FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.00036886
157NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.98241123
158SMC1_22415368_ChIP-Seq_MEFs_Mouse0.98184865
159P63_26484246_Chip-Seq_KERATINOCYTES_Human0.98122091
160SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.96636772
161AR_19668381_ChIP-Seq_PC3_Human0.95723244
162KDM2B_26808549_Chip-Seq_JURKAT_Human0.94588857
163SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94528060
164* ISL1_27105846_Chip-Seq_CPCs_Mouse0.94484858
165ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.93856690
166KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.92436295

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.44816404
2MP0010234_abnormal_vibrissa_follicle3.52843468
3MP0005360_urolithiasis3.52592905
4MP0002822_catalepsy3.28472805
5MP0005058_abnormal_lysosome_morphology3.27651321
6MP0003436_decreased_susceptibility_to3.23424409
7MP0003303_peritoneal_inflammation3.09580022
8MP0004885_abnormal_endolymph2.72820184
9MP0005085_abnormal_gallbladder_physiolo2.71661116
10MP0004270_analgesia2.57568299
11MP0008260_abnormal_autophagy2.56519103
12MP0003635_abnormal_synaptic_transmissio2.49230645
13MP0005451_abnormal_body_composition2.43848939
14MP0002254_reproductive_system_inflammat2.41796067
15MP0002139_abnormal_hepatobiliary_system2.38938525
16MP0003252_abnormal_bile_duct2.38618265
17MP0003172_abnormal_lysosome_physiology2.19708332
18MP0002419_abnormal_innate_immunity2.16483448
19MP0008875_abnormal_xenobiotic_pharmacok2.14165616
20MP0002064_seizures2.09224025
21MP0005167_abnormal_blood-brain_barrier2.09187295
22MP0009745_abnormal_behavioral_response2.08994639
23MP0001958_emphysema2.03277002
24MP0003724_increased_susceptibility_to2.02377097
25MP0004019_abnormal_vitamin_homeostasis1.97937886
26MP0004858_abnormal_nervous_system1.97335464
27MP0009046_muscle_twitch1.95719141
28MP0004947_skin_inflammation1.95145075
29MP0003283_abnormal_digestive_organ1.90871873
30MP0008438_abnormal_cutaneous_collagen1.90495182
31MP0001835_abnormal_antigen_presentation1.90099531
32MP0004510_myositis1.89659679
33MP0003329_amyloid_beta_deposits1.85697962
34MP0005025_abnormal_response_to1.85207106
35MP0003279_aneurysm1.85204673
36MP0000685_abnormal_immune_system1.85148867
37MP0005377_hearing/vestibular/ear_phenot1.84556383
38MP0003878_abnormal_ear_physiology1.84556383
39MP0002063_abnormal_learning/memory/cond1.83354478
40MP0003806_abnormal_nucleotide_metabolis1.82118457
41MP0001440_abnormal_grooming_behavior1.80493783
42MP0006082_CNS_inflammation1.79835380
43MP0009840_abnormal_foam_cell1.79603482
44MP0005365_abnormal_bile_salt1.78402486
45MP0005387_immune_system_phenotype1.76410967
46MP0001790_abnormal_immune_system1.76410967
47MP0001533_abnormal_skeleton_physiology1.76134839
48MP0005464_abnormal_platelet_physiology1.74708400
49MP0003075_altered_response_to1.72989186
50MP0005000_abnormal_immune_tolerance1.70398047
51MP0002998_abnormal_bone_remodeling1.70029933
52MP0008961_abnormal_basal_metabolism1.68940336
53MP0005083_abnormal_biliary_tract1.68889082
54MP0000858_altered_metastatic_potential1.68064490
55MP0005409_darkened_coat_color1.65365299
56MP0003632_abnormal_nervous_system1.63757173
57MP0001486_abnormal_startle_reflex1.62864990
58MP0003828_pulmonary_edema1.61216449
59MP0002733_abnormal_thermal_nociception1.60775272
60MP0003690_abnormal_glial_cell1.60562875
61MP0010329_abnormal_lipoprotein_level1.60261911
62MP0009780_abnormal_chondrocyte_physiolo1.57159875
63MP0002877_abnormal_melanocyte_morpholog1.56824776
64MP0003787_abnormal_imprinting1.55654255
65MP0003453_abnormal_keratinocyte_physiol1.55160594
66MP0000569_abnormal_digit_pigmentation1.53450469
67MP0002272_abnormal_nervous_system1.52600451
68MP0003705_abnormal_hypodermis_morpholog1.49015617
69MP0002452_abnormal_antigen_presenting1.46769716
70MP0002572_abnormal_emotion/affect_behav1.46334660
71MP0002734_abnormal_mechanical_nocicepti1.45435356
72MP0010352_gastrointestinal_tract_polyps1.44781175
73MP0001968_abnormal_touch/_nociception1.44252946
74MP0001666_abnormal_nutrient_absorption1.43459155
75MP0005332_abnormal_amino_acid1.43226489
76MP0002735_abnormal_chemical_nociception1.42308476
77MP0009785_altered_susceptibility_to1.42202467
78MP0008872_abnormal_physiological_respon1.40828998
79MP0003300_gastrointestinal_ulcer1.40436749
80MP0002148_abnormal_hypersensitivity_rea1.39702381
81MP0002723_abnormal_immune_serum1.38797913
82MP0002420_abnormal_adaptive_immunity1.38627186
83MP0001819_abnormal_immune_cell1.38277826
84MP0005423_abnormal_somatic_nervous1.34549504
85MP0002653_abnormal_ependyma_morphology1.33800997
86MP0001800_abnormal_humoral_immune1.33201724
87MP0003633_abnormal_nervous_system1.30973933
88MP0005023_abnormal_wound_healing1.30711340
89MP0002928_abnormal_bile_duct1.30506539
90MP0003631_nervous_system_phenotype1.29933369
91MP0003045_fibrosis1.29912713
92MP0010155_abnormal_intestine_physiology1.29125489
93MP0005671_abnormal_response_to1.27136993
94MP0005397_hematopoietic_system_phenotyp1.25577442
95MP0001545_abnormal_hematopoietic_system1.25577442
96MP0005166_decreased_susceptibility_to1.25313386
97MP0003566_abnormal_cell_adhesion1.22830094
98* MP0004264_abnormal_extraembryonic_tissu1.21416624
99MP0000343_altered_response_to1.20516372
100MP0004043_abnormal_pH_regulation1.19953520
101MP0000955_abnormal_spinal_cord1.19721311
102MP0002405_respiratory_system_inflammati1.16767183
103MP0003183_abnormal_peptide_metabolism1.15055027
104MP0001501_abnormal_sleep_pattern1.14476756
105MP0003868_abnormal_feces_composition1.14281686
106MP0003763_abnormal_thymus_physiology1.13433269
107MP0001970_abnormal_pain_threshold1.13201263
108MP0003448_altered_tumor_morphology1.13186717
109MP0000678_abnormal_parathyroid_gland1.12750543
110MP0003119_abnormal_digestive_system1.11055699
111MP0009333_abnormal_splenocyte_physiolog1.10842227
112MP0005257_abnormal_intraocular_pressure1.10417508
113MP0001849_ear_inflammation1.09421456
114MP0000537_abnormal_urethra_morphology1.09291244
115MP0002736_abnormal_nociception_after1.08535557
116MP0001348_abnormal_lacrimal_gland1.06814793
117MP0001845_abnormal_inflammatory_respons1.06684519
118MP0004811_abnormal_neuron_physiology1.06043941
119MP0001853_heart_inflammation1.05680260
120MP0001851_eye_inflammation1.04992118
121MP0002067_abnormal_sensory_capabilities1.04241442
122MP0000767_abnormal_smooth_muscle1.04084781
123MP0004924_abnormal_behavior1.03571018
124MP0005386_behavior/neurological_phenoty1.03571018
125MP0000751_myopathy1.03279502
126MP0008569_lethality_at_weaning1.03038396
127MP0005390_skeleton_phenotype1.02649398
128MP0004272_abnormal_basement_membrane1.02321964
129MP0004185_abnormal_adipocyte_glucose1.01570389
130MP0004147_increased_porphyrin_level1.01301398
131MP0000716_abnormal_immune_system1.01182021
132MP0003880_abnormal_central_pattern0.98751056
133MP0004133_heterotaxia0.98742969
134MP0010678_abnormal_skin_adnexa0.97479415
135MP0002398_abnormal_bone_marrow0.96109872
136* MP0002118_abnormal_lipid_homeostasis0.94866826
137MP0003191_abnormal_cellular_cholesterol0.94852065
138MP0008874_decreased_physiological_sensi0.93863702
139MP0000604_amyloidosis0.93408205
140MP0002933_joint_inflammation0.93321003
141MP0008469_abnormal_protein_level0.92543065
142* MP0002152_abnormal_brain_morphology0.91079567
143MP0000920_abnormal_myelination0.88341481
144MP0002060_abnormal_skin_morphology0.88197235
145MP0000249_abnormal_blood_vessel0.87837699
146* MP0002066_abnormal_motor_capabilities/c0.87156106
147* MP0000778_abnormal_nervous_system0.86705374
148MP0005164_abnormal_response_to0.86394541
149MP0000465_gastrointestinal_hemorrhage0.86290360
150MP0008004_abnormal_stomach_pH0.85824314
151MP0002429_abnormal_blood_cell0.85674315
152MP0003795_abnormal_bone_structure0.83935275
153MP0002168_other_aberrant_phenotype0.83893952
154MP0005310_abnormal_salivary_gland0.83535016
155MP0004883_abnormal_blood_vessel0.82881682
156MP0009278_abnormal_bone_marrow0.82678691
157MP0002896_abnormal_bone_mineralization0.80880913
158MP0009643_abnormal_urine_homeostasis0.80347764
159MP0005666_abnormal_adipose_tissue0.79957354
160* MP0002086_abnormal_extraembryonic_tissu0.79178182
161MP0003656_abnormal_erythrocyte_physiolo0.78578146
162MP0003634_abnormal_glial_cell0.78377696
163MP0002722_abnormal_immune_system0.77949025
164MP0005165_increased_susceptibility_to0.77653278
165MP0005623_abnormal_meninges_morphology0.77609786
166MP0002796_impaired_skin_barrier0.77282125
167MP0003866_abnormal_defecation0.76639583
168MP0005621_abnormal_cell_physiology0.76034979
169MP0002557_abnormal_social/conspecific_i0.75924873
170MP0005375_adipose_tissue_phenotype0.75834751
171MP0003879_abnormal_hair_cell0.75446009
172MP0000462_abnormal_digestive_system0.74655943
173MP0005076_abnormal_cell_differentiation0.74424062
174MP0002069_abnormal_eating/drinking_beha0.73227169
175MP0003091_abnormal_cell_migration0.73181573
176MP0004808_abnormal_hematopoietic_stem0.72944642
177* MP0002882_abnormal_neuron_morphology0.70680296
178MP0005670_abnormal_white_adipose0.70084962
179* MP0002229_neurodegeneration0.69823525
180MP0001664_abnormal_digestion0.69798548
181MP0002909_abnormal_adrenal_gland0.69180632
182MP0001756_abnormal_urination0.68237663

Predicted human phenotypes

RankGene SetZ-score
1Eczematoid dermatitis (HP:0000976)3.85702419
2Abnormality of the lower motor neuron (HP:0002366)3.52116604
3Abnormality of the astrocytes (HP:0100707)3.49985991
4Astrocytoma (HP:0009592)3.49985991
5Abnormality of macrophages (HP:0004311)3.41829046
6Focal seizures (HP:0007359)3.39789646
7Abnormality of liposaccharide metabolism (HP:0010968)3.15970706
8Abnormality of glycosphingolipid metabolism (HP:0004343)3.15970706
9Abnormality of glycolipid metabolism (HP:0010969)3.15970706
10Ependymoma (HP:0002888)3.14022945
11Abnormality of the corticospinal tract (HP:0002492)3.06511427
12Recurrent abscess formation (HP:0002722)3.01088805
13Hemiplegia (HP:0002301)2.98925535
14Recurrent bacterial skin infections (HP:0005406)2.92539203
15Glioma (HP:0009733)2.83050657
16Dysostosis multiplex (HP:0000943)2.81814271
17Protrusio acetabuli (HP:0003179)2.79597018
18Increased circulating renin level (HP:0000848)2.76068280
19Increased connective tissue (HP:0009025)2.75908177
20Hand muscle atrophy (HP:0009130)2.75440259
21Ankle clonus (HP:0011448)2.74476430
22Increased cerebral lipofuscin (HP:0011813)2.71815285
23Premature rupture of membranes (HP:0001788)2.71690595
24Metabolic alkalosis (HP:0200114)2.70142410
25Postural instability (HP:0002172)2.67766662
26Cellulitis (HP:0100658)2.66377621
27Vertebral compression fractures (HP:0002953)2.64382593
28Myokymia (HP:0002411)2.63087038
29Interstitial pulmonary disease (HP:0006530)2.62974889
30Impaired social interactions (HP:0000735)2.61946981
31Abnormal social behavior (HP:0012433)2.61946981
32Distal upper limb amyotrophy (HP:0007149)2.57411135
33Upper limb amyotrophy (HP:0009129)2.57411135
34Focal motor seizures (HP:0011153)2.57134859
35Broad face (HP:0000283)2.56568110
36Distal lower limb amyotrophy (HP:0008944)2.55369340
37Systemic lupus erythematosus (HP:0002725)2.53627876
38Supranuclear gaze palsy (HP:0000605)2.53303738
39Spastic gait (HP:0002064)2.52334688
40Cerebral inclusion bodies (HP:0100314)2.47527318
41Urinary bladder sphincter dysfunction (HP:0002839)2.46691646
42Urinary urgency (HP:0000012)2.46427163
43Status epilepticus (HP:0002133)2.45681123
44Obstructive sleep apnea (HP:0002870)2.43180241
45Pseudobulbar signs (HP:0002200)2.43103648
46Recurrent gram-negative bacterial infections (HP:0005420)2.39662674
47Gout (HP:0001997)2.39311491
48Loss of speech (HP:0002371)2.37655253
49Gingivitis (HP:0000230)2.37276765
50Spastic tetraparesis (HP:0001285)2.36044996
51Amyloidosis (HP:0011034)2.35496386
52Visual hallucinations (HP:0002367)2.34589502
53Stomach cancer (HP:0012126)2.32464431
54Abnormality of polysaccharide metabolism (HP:0011012)2.32416493
55Abnormality of glycosaminoglycan metabolism (HP:0004371)2.32416493
56Abnormality of mucopolysaccharide metabolism (HP:0011020)2.32416493
57Urinary glycosaminoglycan excretion (HP:0003541)2.28181953
58Mucopolysacchariduria (HP:0008155)2.28181953
59Spontaneous hematomas (HP:0007420)2.28092434
60Hyperglycinuria (HP:0003108)2.26828146
61Cervical subluxation (HP:0003308)2.24552753
62Centrally nucleated skeletal muscle fibers (HP:0003687)2.24133707
63Polygenic inheritance (HP:0010982)2.23175294
64Turricephaly (HP:0000262)2.22880594
65Impaired vibration sensation in the lower limbs (HP:0002166)2.20729524
66Abnormality of glutamine family amino acid metabolism (HP:0010902)2.19759877
67Abnormality of sulfur amino acid metabolism (HP:0004339)2.19375860
68Axonal loss (HP:0003447)2.17860583
69Termporal pattern (HP:0011008)2.17636827
70Insidious onset (HP:0003587)2.17636827
71Increased variability in muscle fiber diameter (HP:0003557)2.16934171
72Increased neuronal autofluorescent lipopigment (HP:0002074)2.16624080
73Myositis (HP:0100614)2.16016194
74Abnormality of the labia minora (HP:0012880)2.14263634
75Neoplasm of the oral cavity (HP:0100649)2.14047777
76Thin bony cortex (HP:0002753)2.13362349
77Confusion (HP:0001289)2.13207588
78Intrahepatic cholestasis (HP:0001406)2.13086393
79Spastic diplegia (HP:0001264)2.10972348
80Myocardial infarction (HP:0001658)2.09836654
81Neuronal loss in central nervous system (HP:0002529)2.05178605
82Esophageal atresia (HP:0002032)2.04198309
83Mediastinal lymphadenopathy (HP:0100721)2.04097867
84Hyperactive renin-angiotensin system (HP:0000841)2.03182008
85Action tremor (HP:0002345)2.01988428
86Obstructive lung disease (HP:0006536)2.01908533
87Chronic obstructive pulmonary disease (HP:0006510)2.01908533
88Abnormality of skeletal muscle fiber size (HP:0012084)2.01849987
89Atrophic scars (HP:0001075)2.01198120
90Insomnia (HP:0100785)2.00840950
91Colitis (HP:0002583)1.99848848
92Dilatation of the ascending aorta (HP:0005111)1.99319754
93Fragile skin (HP:0001030)1.99009917
94Increased IgE level (HP:0003212)1.98800462
95Difficulty climbing stairs (HP:0003551)1.98599790
96Disproportionate tall stature (HP:0001519)1.98019561
97Xanthomatosis (HP:0000991)1.98017978
98Epidermoid cyst (HP:0200040)1.97187863
99Abnormality of binocular vision (HP:0011514)1.96610831
100Diplopia (HP:0000651)1.96610831
101Abnormality of monocarboxylic acid metabolism (HP:0010996)1.96482256
102Poor eye contact (HP:0000817)1.96342167
103Asymmetric septal hypertrophy (HP:0001670)1.95640749
104Achilles tendon contracture (HP:0001771)1.94485036
105Hemorrhage of the eye (HP:0011885)1.93554055
106Hypokalemic alkalosis (HP:0001949)1.93512382
107Elfin facies (HP:0004428)1.93080662
108Vacuolated lymphocytes (HP:0001922)1.92012406
109Clonus (HP:0002169)1.91333992
110Abnormality of glycine metabolism (HP:0010895)1.91166584
111Abnormality of serine family amino acid metabolism (HP:0010894)1.91166584
112Neurofibrillary tangles (HP:0002185)1.91008122
113Orchitis (HP:0100796)1.89811787
114Aneurysm (HP:0002617)1.89519413
115Dysmetria (HP:0001310)1.89390474
116Resting tremor (HP:0002322)1.88504809
117Renal salt wasting (HP:0000127)1.88476987
118Dysdiadochokinesis (HP:0002075)1.88168602
119Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.87808015
120Degeneration of the lateral corticospinal tracts (HP:0002314)1.87808015
121Recurrent skin infections (HP:0001581)1.87287399
122Tetraplegia (HP:0002445)1.86708122
123Emphysema (HP:0002097)1.86177793
124Segmental peripheral demyelination/remyelination (HP:0003481)1.85853379
125Urethral obstruction (HP:0000796)1.85852638
126Epileptic encephalopathy (HP:0200134)1.84574414
127Gastrointestinal inflammation (HP:0004386)1.84264632
128Febrile seizures (HP:0002373)1.83660768
129Neoplasm of the adrenal cortex (HP:0100641)1.83611478
130Lower limb muscle weakness (HP:0007340)1.83093576
131Osteolytic defects of the phalanges of the hand (HP:0009771)1.82823223
132Osteolytic defects of the hand bones (HP:0009699)1.82823223
133Dysmetric saccades (HP:0000641)1.81367096
134Polycythemia (HP:0001901)1.81032693
135Nuclear cataract (HP:0100018)1.80879399
136Morphological abnormality of the pyramidal tract (HP:0002062)1.80654911
137Purpura (HP:0000979)1.80392961
138Ulnar bowing (HP:0003031)1.80289119
139* Spastic paraplegia (HP:0001258)1.79369323
140Lower limb amyotrophy (HP:0007210)1.78268778
141Vertebral clefting (HP:0008428)1.77828511
142Recurrent fungal infections (HP:0002841)1.77341535
143Malnutrition (HP:0004395)1.76379057
144Cerebral aneurysm (HP:0004944)1.76222348
145Hypomagnesemia (HP:0002917)1.76058152
146Retinal atrophy (HP:0001105)1.75616467
147Blue sclerae (HP:0000592)1.74682361
148Hyperacusis (HP:0010780)1.74611963
149Onion bulb formation (HP:0003383)1.74336266
150Spondylolisthesis (HP:0003302)1.74274236
151Partial agenesis of the corpus callosum (HP:0001338)1.73281701
152Hepatoblastoma (HP:0002884)1.72757344
153Hyperventilation (HP:0002883)1.72537807
154Bradykinesia (HP:0002067)1.72199723
155Apathy (HP:0000741)1.71359888
156Spinal rigidity (HP:0003306)1.71196795
157Hemiparesis (HP:0001269)1.71114216
158Epistaxis (HP:0000421)1.70342172
159Hypertriglyceridemia (HP:0002155)1.70278447
160Inflammation of the large intestine (HP:0002037)1.70179300
161Flat acetabular roof (HP:0003180)1.70098401
162Abnormality of the thoracic spine (HP:0100711)1.69754090
163Abnormality of the nasal mucosa (HP:0000433)1.69731049
164Arterial tortuosity (HP:0005116)1.69610540
165Premature loss of primary teeth (HP:0006323)1.69537737
166Abnormality of the Achilles tendon (HP:0005109)1.69335551
167Macroorchidism (HP:0000053)1.69300537
168Shallow orbits (HP:0000586)1.68933710
169Atonic seizures (HP:0010819)1.68242177
170Gastrointestinal stroma tumor (HP:0100723)1.68175423
171J-shaped sella turcica (HP:0002680)1.67897207
172Progressive cerebellar ataxia (HP:0002073)1.67861711
173Meningitis (HP:0001287)1.67540858
174Joint stiffness (HP:0001387)1.67301469
175Thoracic kyphosis (HP:0002942)1.67228903
176Abnormal eating behavior (HP:0100738)1.66956339
177Pustule (HP:0200039)1.66864908
178Peritonitis (HP:0002586)1.66833249
179Slow saccadic eye movements (HP:0000514)1.66753975
180Vascular tortuosity (HP:0004948)1.66537331
181Hepatosplenomegaly (HP:0001433)1.66066672
182Pointed chin (HP:0000307)1.65745508
183Heterotopia (HP:0002282)1.65372506
184* Intention tremor (HP:0002080)1.65102824
185Back pain (HP:0003418)1.64916398
186Impaired smooth pursuit (HP:0007772)1.63793393
187Abnormality of proline metabolism (HP:0010907)1.63154297
188Hydroxyprolinuria (HP:0003080)1.63154297
189Genetic anticipation (HP:0003743)1.62925986
190Hyperaldosteronism (HP:0000859)1.62734401
191Abnormality of ocular smooth pursuit (HP:0000617)1.62197423
192Impaired vibratory sensation (HP:0002495)1.60586117

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK123.48703509
2EPHA23.44952970
3MAP3K92.95607221
4SMG12.70123070
5EPHA42.50989166
6RIPK42.49022650
7MAP2K32.36708367
8PNCK2.35100794
9NTRK32.22722821
10TTN2.19368160
11SIK22.16615070
12BRD42.12664616
13KSR22.10415746
14MAP4K12.09890644
15TYRO31.98434077
16AKT31.91515680
17CAMK1G1.90486911
18PAK61.90234759
19NTRK11.90001762
20IRAK31.86156266
21STK381.82702462
22BLK1.82000982
23SGK31.69943774
24TYK21.69771332
25MAP3K131.68522509
26MAP3K31.67813658
27ALK1.65297932
28MAP3K111.59325293
29CAMK1D1.54850657
30MAP3K41.48516297
31MAP3K71.47398569
32LATS21.46891507
33DAPK21.46832538
34WNK11.46153921
35TAOK21.45464467
36ZAP701.45184723
37ARAF1.44156607
38MARK11.41517049
39CSK1.35217117
40MAP3K11.34376197
41OXSR11.33676791
42WNK31.32610271
43SIK11.32215661
44RIPK11.31879955
45NEK11.29802946
46MAP3K21.29218614
47PRKD21.28311163
48SGK2231.23794265
49SGK4941.23794265
50TBK11.23726689
51NTRK21.22926291
52NME21.22436010
53FES1.21009605
54FGFR21.19660797
55ICK1.19598799
56MINK11.17557580
57IRAK41.17295217
58SGK21.16233014
59TESK11.15775255
60JAK31.11214008
61TGFBR21.11046922
62MAP3K141.08424884
63MET1.07506444
64PRPF4B1.05230230
65RPS6KA21.03642065
66TESK21.03585885
67EEF2K1.01714693
68FER1.01574176
69PTK20.99385469
70MAP3K100.99156974
71MST1R0.98284446
72CSNK1A1L0.97821111
73MAP2K40.96697730
74ERN10.96035151
75FGFR40.94647420
76MTOR0.94314279
77MAP2K20.92052189
78MAP3K60.90640885
79KSR10.89747270
80FGR0.89010438
81MAPK120.87540771
82PAK30.87469045
83GRK60.86708532
84PRKCH0.85502721
85PKN20.85218899
86BTK0.83818816
87MARK20.83168758
88TAOK10.82870970
89HCK0.81369395
90MAPK70.80672973
91TSSK60.78499185
92MOS0.78266394
93PTK60.77917531
94TTK0.77515160
95CSF1R0.77296267
96CDK50.76682582
97PDK10.76653520
98PDGFRA0.76339518
99RPS6KL10.75130298
100RPS6KC10.75130298
101RPS6KB20.71565354
102EPHB10.71145834
103HIPK20.69930863
104MAP2K10.69571488
105SGK10.69529452
106MATK0.68798616
107PRKCI0.68542670
108CDC42BPA0.66207175
109RET0.64672731
110TNK20.62790922
111IRAK20.62544197
112MAP3K80.62188793
113CAMKK10.60925246
114BMX0.59768157
115CSNK1G20.58633248
116PIM20.58500484
117CSNK1D0.57764199
118BRAF0.55345177
119JAK20.54235669
120SYK0.53797301
121CSNK1E0.53247960
122PRKD30.53215230
123RPS6KA60.52407730
124TRIB30.52022469
125PRKCG0.51643098
126DAPK10.51501411
127STK110.50569676
128NEK90.50286761
129LRRK20.50009240
130LMTK20.49678103
131STK100.48751067
132NEK60.48254193
133ERBB20.48237997
134MAPK100.47616182
135MAPK110.46853773
136IKBKE0.45524722
137PAK40.44980504
138GRK50.44850501
139PDGFRB0.43460961
140PINK10.43216652
141LCK0.42937665
142FYN0.42216984
143PTK2B0.42004629
144CAMK2G0.40983547
145DYRK1B0.40936730
146AKT20.40871019
147RPS6KA30.40694625
148CSNK1A10.40165781
149PRKAA10.39907152
150GSK3B0.39440713
151MAPK80.39304751
152JAK10.38733480
153DDR20.38712491
154PDPK10.38363636
155SIK30.37904667
156LYN0.37369230
157SRC0.36341740
158PRKG20.36051554
159LATS10.33698652

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009103.33074551
2Other glycan degradation_Homo sapiens_hsa005112.74383698
3Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.62142475
4Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.48681038
5Bile secretion_Homo sapiens_hsa049762.25360046
6Arginine biosynthesis_Homo sapiens_hsa002202.07530727
7Osteoclast differentiation_Homo sapiens_hsa043802.05470475
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.04996097
9Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002502.04097005
10Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.87475007
11Leishmaniasis_Homo sapiens_hsa051401.87447040
12Synaptic vesicle cycle_Homo sapiens_hsa047211.84145338
13Glycosaminoglycan degradation_Homo sapiens_hsa005311.82215135
14Nicotine addiction_Homo sapiens_hsa050331.80438863
15Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.76163583
16Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.74235684
17Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.68715492
18B cell receptor signaling pathway_Homo sapiens_hsa046621.67550790
19Acute myeloid leukemia_Homo sapiens_hsa052211.62712124
20Lysosome_Homo sapiens_hsa041421.60469800
21Staphylococcus aureus infection_Homo sapiens_hsa051501.58368499
22Butanoate metabolism_Homo sapiens_hsa006501.53288349
232-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.52632932
24Tuberculosis_Homo sapiens_hsa051521.48567398
25Lysine degradation_Homo sapiens_hsa003101.47239344
26Toll-like receptor signaling pathway_Homo sapiens_hsa046201.46590929
27VEGF signaling pathway_Homo sapiens_hsa043701.45409015
28Chronic myeloid leukemia_Homo sapiens_hsa052201.41961515
29Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.38316948
30Toxoplasmosis_Homo sapiens_hsa051451.37252390
31Leukocyte transendothelial migration_Homo sapiens_hsa046701.35979947
32Phosphatidylinositol signaling system_Homo sapiens_hsa040701.33255575
33Salivary secretion_Homo sapiens_hsa049701.31999425
34GABAergic synapse_Homo sapiens_hsa047271.29500588
35AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.27773187
36Tryptophan metabolism_Homo sapiens_hsa003801.27699510
37Notch signaling pathway_Homo sapiens_hsa043301.26922034
38Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.25120928
39Primary bile acid biosynthesis_Homo sapiens_hsa001201.23289449
40Prion diseases_Homo sapiens_hsa050201.21258548
41Non-small cell lung cancer_Homo sapiens_hsa052231.20344492
42Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.19497042
43Malaria_Homo sapiens_hsa051441.18963895
44Amoebiasis_Homo sapiens_hsa051461.17831716
45Bladder cancer_Homo sapiens_hsa052191.17718078
46Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.17388466
47ABC transporters_Homo sapiens_hsa020101.17048222
48Pertussis_Homo sapiens_hsa051331.16287546
49Neurotrophin signaling pathway_Homo sapiens_hsa047221.15864159
50Phagosome_Homo sapiens_hsa041451.15829411
51Gastric acid secretion_Homo sapiens_hsa049711.15695243
52Pancreatic cancer_Homo sapiens_hsa052121.12433986
53TNF signaling pathway_Homo sapiens_hsa046681.11145809
54Glycerolipid metabolism_Homo sapiens_hsa005611.09955951
55Cyanoamino acid metabolism_Homo sapiens_hsa004601.09386741
56Salmonella infection_Homo sapiens_hsa051321.08746659
57Influenza A_Homo sapiens_hsa051641.07797841
58Viral myocarditis_Homo sapiens_hsa054161.07358615
59Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.06921445
60Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.06404600
61Type II diabetes mellitus_Homo sapiens_hsa049301.04133311
62Glutamatergic synapse_Homo sapiens_hsa047241.03946674
63Focal adhesion_Homo sapiens_hsa045101.03829709
64Shigellosis_Homo sapiens_hsa051311.00942612
65Galactose metabolism_Homo sapiens_hsa000521.00941322
66Fatty acid degradation_Homo sapiens_hsa000711.00057473
67Chemokine signaling pathway_Homo sapiens_hsa040620.99915031
68Hepatitis C_Homo sapiens_hsa051600.99597682
69Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.99096320
70Circadian entrainment_Homo sapiens_hsa047130.98838017
71Inositol phosphate metabolism_Homo sapiens_hsa005620.98422353
72Long-term potentiation_Homo sapiens_hsa047200.98351399
73Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.97797038
74beta-Alanine metabolism_Homo sapiens_hsa004100.96430186
75Renal cell carcinoma_Homo sapiens_hsa052110.95389283
76Allograft rejection_Homo sapiens_hsa053300.94934141
77Endocytosis_Homo sapiens_hsa041440.94890011
78NF-kappa B signaling pathway_Homo sapiens_hsa040640.94833896
79Mineral absorption_Homo sapiens_hsa049780.94223284
80Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.93285972
81Apoptosis_Homo sapiens_hsa042100.93252729
82ErbB signaling pathway_Homo sapiens_hsa040120.92340769
83Fructose and mannose metabolism_Homo sapiens_hsa000510.92200333
84Hepatitis B_Homo sapiens_hsa051610.92041875
85Dorso-ventral axis formation_Homo sapiens_hsa043200.91713422
86Platelet activation_Homo sapiens_hsa046110.91144007
87Pentose phosphate pathway_Homo sapiens_hsa000300.90822336
88Sphingolipid signaling pathway_Homo sapiens_hsa040710.90812522
89Carbohydrate digestion and absorption_Homo sapiens_hsa049730.90704120
90Olfactory transduction_Homo sapiens_hsa047400.90453848
91T cell receptor signaling pathway_Homo sapiens_hsa046600.88816345
92Graft-versus-host disease_Homo sapiens_hsa053320.88326151
93Hematopoietic cell lineage_Homo sapiens_hsa046400.88166982
94Insulin secretion_Homo sapiens_hsa049110.86375220
95Choline metabolism in cancer_Homo sapiens_hsa052310.84996635
96Morphine addiction_Homo sapiens_hsa050320.84832851
97Autoimmune thyroid disease_Homo sapiens_hsa053200.84083581
98Vitamin digestion and absorption_Homo sapiens_hsa049770.83642677
99PPAR signaling pathway_Homo sapiens_hsa033200.83534450
100Proteoglycans in cancer_Homo sapiens_hsa052050.83480782
101Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.82958637
102Aldosterone synthesis and secretion_Homo sapiens_hsa049250.82575537
103* Glycerophospholipid metabolism_Homo sapiens_hsa005640.82053497
104Fat digestion and absorption_Homo sapiens_hsa049750.81932397
105Histidine metabolism_Homo sapiens_hsa003400.81291737
106Estrogen signaling pathway_Homo sapiens_hsa049150.81245419
107Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.80823010
108Tyrosine metabolism_Homo sapiens_hsa003500.79272430
109Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.79255361
110Endometrial cancer_Homo sapiens_hsa052130.78347822
111Measles_Homo sapiens_hsa051620.78289652
112Long-term depression_Homo sapiens_hsa047300.76871836
113Prolactin signaling pathway_Homo sapiens_hsa049170.76824932
114mTOR signaling pathway_Homo sapiens_hsa041500.76649859
115Tight junction_Homo sapiens_hsa045300.76520412
116Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.76462974
117Antigen processing and presentation_Homo sapiens_hsa046120.76417176
118RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.74788473
119Insulin signaling pathway_Homo sapiens_hsa049100.74458712
120Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.74438681
121Gap junction_Homo sapiens_hsa045400.73758409
122Regulation of actin cytoskeleton_Homo sapiens_hsa048100.72750778
123Chemical carcinogenesis_Homo sapiens_hsa052040.72574321
124Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.72547917
125GnRH signaling pathway_Homo sapiens_hsa049120.72242471
126African trypanosomiasis_Homo sapiens_hsa051430.70897809
127Phospholipase D signaling pathway_Homo sapiens_hsa040720.70692761
128Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.70434415
129Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.70249690
130Thyroid hormone signaling pathway_Homo sapiens_hsa049190.70077968
131Selenocompound metabolism_Homo sapiens_hsa004500.69919181
132Sulfur metabolism_Homo sapiens_hsa009200.69831579
133Legionellosis_Homo sapiens_hsa051340.69522951
134Adipocytokine signaling pathway_Homo sapiens_hsa049200.69511282
135Phenylalanine metabolism_Homo sapiens_hsa003600.68479239
136Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.68387568
137NOD-like receptor signaling pathway_Homo sapiens_hsa046210.68381203
138HIF-1 signaling pathway_Homo sapiens_hsa040660.68049809
139Fatty acid metabolism_Homo sapiens_hsa012120.66790057
140Taste transduction_Homo sapiens_hsa047420.66636688
141Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.66303828
142Cholinergic synapse_Homo sapiens_hsa047250.65565081
143Dopaminergic synapse_Homo sapiens_hsa047280.63808990
144Insulin resistance_Homo sapiens_hsa049310.63564872
145Thyroid cancer_Homo sapiens_hsa052160.63297790
146Amphetamine addiction_Homo sapiens_hsa050310.62757414
147Small cell lung cancer_Homo sapiens_hsa052220.62083238
148Rheumatoid arthritis_Homo sapiens_hsa053230.61914380
149Vibrio cholerae infection_Homo sapiens_hsa051100.61880771
150Herpes simplex infection_Homo sapiens_hsa051680.61834696
151Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.61366420
152Glioma_Homo sapiens_hsa052140.61286054
153Biosynthesis of amino acids_Homo sapiens_hsa012300.61140190
154Adherens junction_Homo sapiens_hsa045200.60989636
155Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.60311385
156ECM-receptor interaction_Homo sapiens_hsa045120.59171499
157Thyroid hormone synthesis_Homo sapiens_hsa049180.58877225
158HTLV-I infection_Homo sapiens_hsa051660.58529275
159Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.58089296
160Central carbon metabolism in cancer_Homo sapiens_hsa052300.56824155
161Jak-STAT signaling pathway_Homo sapiens_hsa046300.56694246
162Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.55521829
163Arginine and proline metabolism_Homo sapiens_hsa003300.55342786
164Hippo signaling pathway_Homo sapiens_hsa043900.54808183
165Complement and coagulation cascades_Homo sapiens_hsa046100.52913869
166Fatty acid biosynthesis_Homo sapiens_hsa000610.52561742
167Vitamin B6 metabolism_Homo sapiens_hsa007500.52429649
168Oxytocin signaling pathway_Homo sapiens_hsa049210.51328228
169Intestinal immune network for IgA production_Homo sapiens_hsa046720.51035326
170Axon guidance_Homo sapiens_hsa043600.51014900
171Colorectal cancer_Homo sapiens_hsa052100.50789261
172Cocaine addiction_Homo sapiens_hsa050300.50320476
173Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.50035530
174Rap1 signaling pathway_Homo sapiens_hsa040150.49558731
175Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.47614900
176cAMP signaling pathway_Homo sapiens_hsa040240.47273877
177Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.46876145
178Longevity regulating pathway - mammal_Homo sapiens_hsa042110.44949219
179Cysteine and methionine metabolism_Homo sapiens_hsa002700.44707895
180Pyruvate metabolism_Homo sapiens_hsa006200.44202227
181Renin secretion_Homo sapiens_hsa049240.42292950

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