DFNB59

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 gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ribosomal small subunit assembly (GO:0000028)7.18169853
2negative regulation of glial cell proliferation (GO:0060253)6.51065998
3viral transcription (GO:0019083)5.82681251
4synapsis (GO:0007129)5.78319809
5ribonucleoprotein complex disassembly (GO:0032988)5.77767099
6ribosomal small subunit biogenesis (GO:0042274)5.76414938
7regulation of protein heterodimerization activity (GO:0043497)5.76337936
8male meiosis I (GO:0007141)5.74170440
9translational termination (GO:0006415)5.69018970
10neutrophil activation involved in immune response (GO:0002283)5.60934442
11piRNA metabolic process (GO:0034587)5.38410164
12neuronal action potential propagation (GO:0019227)5.31533194
13maturation of SSU-rRNA (GO:0030490)5.04298560
14seminiferous tubule development (GO:0072520)4.95648392
15mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.80570748
16cellular protein complex disassembly (GO:0043624)4.76073304
17SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.59092889
18meiosis I (GO:0007127)4.56277813
19cotranslational protein targeting to membrane (GO:0006613)4.54310794
20nonmotile primary cilium assembly (GO:0035058)4.54090627
21limb bud formation (GO:0060174)4.53329548
22translational elongation (GO:0006414)4.50167232
23protein targeting to ER (GO:0045047)4.50032840
24establishment of protein localization to endoplasmic reticulum (GO:0072599)4.30087276
25detection of light stimulus involved in visual perception (GO:0050908)4.28103188
26detection of light stimulus involved in sensory perception (GO:0050962)4.28103188
27nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.27947241
28ATP synthesis coupled proton transport (GO:0015986)4.23135255
29energy coupled proton transport, down electrochemical gradient (GO:0015985)4.23135255
30viral life cycle (GO:0019058)4.22124321
31protein localization to endoplasmic reticulum (GO:0070972)4.20194607
32macromolecular complex disassembly (GO:0032984)4.04608153
33regulation of cilium movement (GO:0003352)4.01864318
34protein neddylation (GO:0045116)3.97784532
35photoreceptor cell maintenance (GO:0045494)3.94261454
36cornea development in camera-type eye (GO:0061303)3.93340619
37male meiosis (GO:0007140)3.93192218
38organelle disassembly (GO:1903008)3.91241447
39protein complex disassembly (GO:0043241)3.90865379
40chromosome organization involved in meiosis (GO:0070192)3.89690640
41daunorubicin metabolic process (GO:0044597)3.88849344
42polyketide metabolic process (GO:0030638)3.88849344
43doxorubicin metabolic process (GO:0044598)3.88849344
44intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)3.86937756
45protein localization to peroxisome (GO:0072662)3.82285806
46protein targeting to peroxisome (GO:0006625)3.82285806
47establishment of protein localization to peroxisome (GO:0072663)3.82285806
48regulation of dendritic cell antigen processing and presentation (GO:0002604)3.77118258
49positive regulation of histone H3-K4 methylation (GO:0051571)3.73243239
50folic acid transport (GO:0015884)3.72403707
51protein import into peroxisome matrix (GO:0016558)3.70198888
52translational initiation (GO:0006413)3.64434925
53gamma-aminobutyric acid transport (GO:0015812)3.63516058
54lipopolysaccharide biosynthetic process (GO:0009103)3.62314420
55granulocyte activation (GO:0036230)3.60228656
56pseudouridine synthesis (GO:0001522)3.57011345
57epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.54846273
58negative regulation of microtubule polymerization (GO:0031115)3.54461589
59meiotic nuclear division (GO:0007126)3.53393479
60water-soluble vitamin biosynthetic process (GO:0042364)3.52513786
61regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)3.47788739
62regulation of glial cell proliferation (GO:0060251)3.47329320
63regulation of hypersensitivity (GO:0002883)3.47291269
64positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)3.45744151
65ubiquinone biosynthetic process (GO:0006744)3.45725862
66mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.44748027
67histone H4-K12 acetylation (GO:0043983)3.44368960
68cellular response to zinc ion (GO:0071294)3.44349499
69regulation of acute inflammatory response to antigenic stimulus (GO:0002864)3.36149172
70peroxisomal transport (GO:0043574)3.35578508
71positive regulation of sodium ion transmembrane transporter activity (GO:2000651)3.30513931
72Sertoli cell development (GO:0060009)3.28391777
73neutrophil activation (GO:0042119)3.28312708
74positive regulation of antigen processing and presentation (GO:0002579)3.23605405
75antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.21371376
76negative regulation of interleukin-17 production (GO:0032700)3.19992511
77protein targeting to membrane (GO:0006612)3.15553848
78activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO3.15277742
79antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.14790753
80DNA methylation involved in gamete generation (GO:0043046)3.12429840
81ventricular trabecula myocardium morphogenesis (GO:0003222)3.11622416
82respiratory electron transport chain (GO:0022904)3.11223684
83negative regulation of inflammatory response to antigenic stimulus (GO:0002862)3.11094657
84transcription elongation from RNA polymerase III promoter (GO:0006385)3.10215862
85termination of RNA polymerase III transcription (GO:0006386)3.10215862
86misfolded or incompletely synthesized protein catabolic process (GO:0006515)3.10111968
87antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.08768316
88ubiquinone metabolic process (GO:0006743)3.08600431
89intracellular protein transmembrane import (GO:0044743)3.08174875
90transcription from mitochondrial promoter (GO:0006390)3.07477945
91lipopolysaccharide metabolic process (GO:0008653)3.06792893
92fucose catabolic process (GO:0019317)3.06651786
93L-fucose metabolic process (GO:0042354)3.06651786
94L-fucose catabolic process (GO:0042355)3.06651786
95regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)3.05524164
96one-carbon compound transport (GO:0019755)3.05417769
97positive regulation of respiratory burst (GO:0060267)3.03723333
98quinone biosynthetic process (GO:1901663)3.03338879
99positive regulation of natural killer cell differentiation (GO:0032825)3.01368406
100response to prostaglandin E (GO:0034695)3.00598079
101acrosome reaction (GO:0007340)3.00119634
102reciprocal DNA recombination (GO:0035825)2.99288664
103reciprocal meiotic recombination (GO:0007131)2.99288664
104electron transport chain (GO:0022900)2.98704370
105neural crest cell development (GO:0014032)2.98043267
106nuclear-transcribed mRNA catabolic process (GO:0000956)2.97667970
107sphingoid metabolic process (GO:0046519)2.97659882
108inositol phosphate catabolic process (GO:0071545)2.96505646
109cilium or flagellum-dependent cell motility (GO:0001539)2.95875890
110RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.94222751
111intraciliary transport (GO:0042073)2.94097399
112rRNA modification (GO:0000154)2.93761663
113aminoglycoside antibiotic metabolic process (GO:0030647)2.93355548
114respiratory chain complex IV assembly (GO:0008535)2.92980256
115cytochrome complex assembly (GO:0017004)2.92729812
116brain morphogenesis (GO:0048854)2.90633103
117rRNA methylation (GO:0031167)2.89545162
118sister chromatid cohesion (GO:0007062)2.89201346
119auditory receptor cell stereocilium organization (GO:0060088)2.88541565
120axoneme assembly (GO:0035082)2.87379706
121regulation of inflammatory response to antigenic stimulus (GO:0002861)2.87293348
122negative regulation of DNA-dependent DNA replication (GO:2000104)2.87205039
123metanephric nephron tubule development (GO:0072234)2.86338269
124metanephric tubule development (GO:0072170)2.86338269
125negative regulation of cardiac muscle cell apoptotic process (GO:0010667)2.86121382
126cellular ketone body metabolic process (GO:0046950)2.85256062
127detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.85102819
128regulation of type B pancreatic cell apoptotic process (GO:2000674)2.84466756
129regulation of response to food (GO:0032095)2.82129763
130respiratory burst (GO:0045730)2.81086862
131polyol catabolic process (GO:0046174)2.80369476
132intracellular protein transmembrane transport (GO:0065002)2.79532848
133detection of temperature stimulus involved in sensory perception of pain (GO:0050965)2.79437488
134detection of temperature stimulus involved in sensory perception (GO:0050961)2.79437488
135regulation of glucokinase activity (GO:0033131)2.79273703
136regulation of hexokinase activity (GO:1903299)2.79273703
137disruption of cells of other organism (GO:0044364)2.78701978
138killing of cells of other organism (GO:0031640)2.78701978
139cellular response to nerve growth factor stimulus (GO:1990090)2.78022117
140response to nerve growth factor (GO:1990089)2.78022117
141mesenchymal cell development (GO:0014031)2.76847543
142sequestering of actin monomers (GO:0042989)2.76531053
143phagosome maturation (GO:0090382)2.76221369
144regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.74941700
145negative regulation of appetite (GO:0032099)2.74507214
146negative regulation of response to food (GO:0032096)2.74507214
147spermatid development (GO:0007286)2.74256242
148leukocyte mediated cytotoxicity (GO:0001909)2.73518222
149negative thymic T cell selection (GO:0045060)2.73356359
150cilium organization (GO:0044782)2.73003272
151negative regulation of growth of symbiont in host (GO:0044130)2.71504575
152negative regulation of growth of symbiont involved in interaction with host (GO:0044146)2.71504575
153modulation of growth of symbiont involved in interaction with host (GO:0044144)2.71504575
154regulation of growth of symbiont in host (GO:0044126)2.71504575
155mRNA catabolic process (GO:0006402)2.71062097
156cellular response to ATP (GO:0071318)2.70582219
157cell killing (GO:0001906)2.69975736
158protein complex biogenesis (GO:0070271)2.68691950
159negative regulation of myeloid cell apoptotic process (GO:0033033)2.68561550
160sperm motility (GO:0030317)2.68098205
161regulation of microtubule-based movement (GO:0060632)2.67517736
162regulation of activation of Janus kinase activity (GO:0010533)2.67452536
163protein localization to Golgi apparatus (GO:0034067)2.66547927
164neural tube formation (GO:0001841)2.63837822
165centriole replication (GO:0007099)2.63240647
166cilium assembly (GO:0042384)2.62929361
167positive regulation of interleukin-10 production (GO:0032733)2.62113539
168heart trabecula morphogenesis (GO:0061384)2.61307089
169regulation of metalloenzyme activity (GO:0048552)2.61269853
170positive regulation of inflammatory response to antigenic stimulus (GO:0002863)2.60847449
171sphingosine metabolic process (GO:0006670)2.60682590
172diol metabolic process (GO:0034311)2.60294643
173myeloid cell activation involved in immune response (GO:0002275)2.60223251
174regulation of interleukin-17 production (GO:0032660)2.58989995
175mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.58593326
176mitochondrial respiratory chain complex I assembly (GO:0032981)2.58593326
177NADH dehydrogenase complex assembly (GO:0010257)2.58593326
178meiotic cell cycle process (GO:1903046)2.58301245
179growth hormone secretion (GO:0030252)2.58201859
180positive regulation of cell cycle G1/S phase transition (GO:1902808)2.57418289
181ribosomal large subunit biogenesis (GO:0042273)2.57002387
182synaptonemal complex assembly (GO:0007130)2.56835486
183regulation of appetite (GO:0032098)2.56550612
184cellular response to prostaglandin stimulus (GO:0071379)2.56218038
185regulation of cellular extravasation (GO:0002691)2.55976595
186histone exchange (GO:0043486)2.54326081
187dendritic cell chemotaxis (GO:0002407)2.54291962
188mitochondrion morphogenesis (GO:0070584)2.53815304
189translation (GO:0006412)2.53463419
190histone H2A acetylation (GO:0043968)2.51486164
191regulation of antigen processing and presentation (GO:0002577)2.51004171
192metanephric nephron epithelium development (GO:0072243)2.50875593
193epithelial cilium movement (GO:0003351)2.48821857
194establishment of protein localization to Golgi (GO:0072600)2.48651905
195C-terminal protein amino acid modification (GO:0018410)2.45465537
196phosphorylated carbohydrate dephosphorylation (GO:0046838)2.45102180
197inositol phosphate dephosphorylation (GO:0046855)2.45102180
198cellular response to leptin stimulus (GO:0044320)2.44961369
199exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.43976643

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_21731497_ChIP-ChIP_J774_Mouse6.19076332
2IRF8_22096565_ChIP-ChIP_GC-B_Human5.36998922
3IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.07136912
4SALL1_21062744_ChIP-ChIP_HESCs_Human3.78898348
5IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.55427421
6IGF1R_20145208_ChIP-Seq_DFB_Human3.51644278
7ZNF274_21170338_ChIP-Seq_K562_Hela3.44584606
8SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.34889374
9E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.30181334
10THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.15570129
11POU3F2_20337985_ChIP-ChIP_501MEL_Human2.79441550
12STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.72332952
13FUS_26573619_Chip-Seq_HEK293_Human2.65146154
14GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.58982589
15NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.52449088
16IRF8_27001747_Chip-Seq_BMDM_Mouse2.39073820
17FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.31919455
18EZH2_22144423_ChIP-Seq_EOC_Human2.26666464
19GBX2_23144817_ChIP-Seq_PC3_Human2.21451137
20VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.17705597
21HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.10651900
22PCGF2_27294783_Chip-Seq_ESCs_Mouse2.09491293
23PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.09188669
24RBPJ_22232070_ChIP-Seq_NCS_Mouse2.08430958
25CTBP2_25329375_ChIP-Seq_LNCAP_Human2.08291059
26CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.06375764
27FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.97031479
28EWS_26573619_Chip-Seq_HEK293_Human1.96844674
29RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.94164058
30EGR1_19032775_ChIP-ChIP_M12_Human1.92758171
31ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.92216188
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.91317653
33SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.89618706
34MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.89390381
35ELK1_19687146_ChIP-ChIP_HELA_Human1.87624209
36CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.79623965
37TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.75503013
38GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.73116394
39ZNF263_19887448_ChIP-Seq_K562_Human1.69903356
40STAT4_19710469_ChIP-ChIP_TH1__Mouse1.69828214
41TAF15_26573619_Chip-Seq_HEK293_Human1.67644725
42MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.66545045
43EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.60348327
44AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.53340829
45SUZ12_27294783_Chip-Seq_NPCs_Mouse1.52822606
46BCAT_22108803_ChIP-Seq_LS180_Human1.51976046
47GATA1_22025678_ChIP-Seq_K562_Human1.50928488
48KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.50885735
49EST1_17652178_ChIP-ChIP_JURKAT_Human1.50779780
50PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.47673628
51NFE2_27457419_Chip-Seq_LIVER_Mouse1.45008518
52STAT3_23295773_ChIP-Seq_U87_Human1.44977449
53VDR_23849224_ChIP-Seq_CD4+_Human1.44175320
54SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.43559931
55FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.42429614
56OCT4_18692474_ChIP-Seq_MEFs_Mouse1.40622729
57VDR_24787735_ChIP-Seq_THP-1_Human1.40420471
58IKZF1_21737484_ChIP-ChIP_HCT116_Human1.37927867
59EZH2_27294783_Chip-Seq_NPCs_Mouse1.37900713
60STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.36201163
61NANOG_19829295_ChIP-Seq_ESCs_Human1.35420979
62SOX2_19829295_ChIP-Seq_ESCs_Human1.35420979
63AR_25329375_ChIP-Seq_VCAP_Human1.34658030
64PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.34385407
65EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.34347055
66SOX2_20726797_ChIP-Seq_SW620_Human1.34157286
67TP53_22573176_ChIP-Seq_HFKS_Human1.33539534
68TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.31434862
69TCF4_23295773_ChIP-Seq_U87_Human1.31429231
70SMAD4_21799915_ChIP-Seq_A2780_Human1.30139915
71GATA2_21666600_ChIP-Seq_HMVEC_Human1.29451521
72RUNX2_22187159_ChIP-Seq_PCA_Human1.29155575
73GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.27903044
74CRX_20693478_ChIP-Seq_RETINA_Mouse1.27567055
75HTT_18923047_ChIP-ChIP_STHdh_Human1.26909658
76MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.26845282
77SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.26297098
78PIAS1_25552417_ChIP-Seq_VCAP_Human1.26178703
79RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.26057851
80EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.25822142
81MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.25743538
82KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.25023625
83SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24785890
84GATA3_26560356_Chip-Seq_TH2_Human1.24681670
85STAT1_20625510_ChIP-Seq_HELA_Human1.24173320
86RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.24081593
87HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.23188254
88VDR_22108803_ChIP-Seq_LS180_Human1.23126977
89CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.21219422
90P300_18555785_Chip-Seq_ESCs_Mouse1.20875443
91EZH2_27304074_Chip-Seq_ESCs_Mouse1.20609627
92STAT3_18555785_Chip-Seq_ESCs_Mouse1.20402242
93SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.20070197
94VDR_24763502_ChIP-Seq_THP-1_Human1.19471809
95UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.18052025
96BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.17732058
97FLI1_21867929_ChIP-Seq_TH2_Mouse1.17154726
98SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.17096608
99CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17019167
100CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.15386211
101ETV1_20927104_ChIP-Seq_GIST48_Human1.15118865
102* FOXA1_21572438_ChIP-Seq_LNCaP_Human1.14553407
103FLI1_27457419_Chip-Seq_LIVER_Mouse1.14514176
104SMAD3_21741376_ChIP-Seq_EPCs_Human1.14158730
105NR3C1_21868756_ChIP-Seq_MCF10A_Human1.14115905
106TCF4_22108803_ChIP-Seq_LS180_Human1.13552831
107RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.13479127
108XRN2_22483619_ChIP-Seq_HELA_Human1.13352991
109TP63_17297297_ChIP-ChIP_HaCaT_Human1.12999146
110TP53_18474530_ChIP-ChIP_U2OS_Human1.12754441
111PCGF2_27294783_Chip-Seq_NPCs_Mouse1.12660991
112PCGF4_22325352_ChIP-Seq_293T-Rex_Human1.10760831
113PADI4_21655091_ChIP-ChIP_MCF-7_Human1.10743064
114AR_20517297_ChIP-Seq_VCAP_Human1.10498464
115EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.10312640
116PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.09994367
117ETS1_20019798_ChIP-Seq_JURKAT_Human1.08881891
118EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.07440769
119CMYC_18555785_Chip-Seq_ESCs_Mouse1.07400088
120TOP2B_26459242_ChIP-Seq_MCF-7_Human1.07353703
121SUZ12_18555785_Chip-Seq_ESCs_Mouse1.06741545
122CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.06404247
123SMAD_19615063_ChIP-ChIP_OVARY_Human1.06232606
124WT1_19549856_ChIP-ChIP_CCG9911_Human1.05448903
125SOX2_18555785_Chip-Seq_ESCs_Mouse1.04958986
126ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.04100571
127SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.03889293
128NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.03661096
129PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.02963321
130KLF5_20875108_ChIP-Seq_MESCs_Mouse1.02919006
131FOXA1_25329375_ChIP-Seq_VCAP_Human1.02915771
132FOXA1_27270436_Chip-Seq_PROSTATE_Human1.02915771
133JARID2_20075857_ChIP-Seq_MESCs_Mouse1.02599249
134SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.02592895
135P300_19829295_ChIP-Seq_ESCs_Human1.02454787
136GABP_17652178_ChIP-ChIP_JURKAT_Human1.02115280
137OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.01529184
138JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.00958419
139NCOR_22424771_ChIP-Seq_293T_Human1.00586387
140ER_23166858_ChIP-Seq_MCF-7_Human1.00576375
141EED_16625203_ChIP-ChIP_MESCs_Mouse1.00219714
142NMYC_18555785_Chip-Seq_ESCs_Mouse0.99961958
143SMAD1_18555785_Chip-Seq_ESCs_Mouse0.99903065
144SOX2_18555785_ChIP-Seq_MESCs_Mouse0.99016528
145ELK1_22589737_ChIP-Seq_MCF10A_Human0.98401059
146IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.97970934
147CBP_20019798_ChIP-Seq_JUKART_Human0.97970934
148CBX2_27304074_Chip-Seq_ESCs_Mouse0.97954220
149RNF2_27304074_Chip-Seq_ESCs_Mouse0.97214022
150P53_22387025_ChIP-Seq_ESCs_Mouse0.96318201
151VDR_21846776_ChIP-Seq_THP-1_Human0.95757216
152CREB1_15753290_ChIP-ChIP_HEK293T_Human0.95383574
153CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.93176094
154NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.92595658
155NRF2_20460467_ChIP-Seq_MEFs_Mouse0.92595658
156ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.92447118
157SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.91868753
158STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.91834815
159MYC_18940864_ChIP-ChIP_HL60_Human0.91723029
160CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.90463546
161NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.89414040
162SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.87735788
163EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.87152115
164E2F1_18555785_Chip-Seq_ESCs_Mouse0.86866342
165RNF2_27304074_Chip-Seq_NSC_Mouse0.86090841
166CLOCK_20551151_ChIP-Seq_293T_Human0.86014409
167SOX2_18692474_ChIP-Seq_MEFs_Mouse0.85909442
168CDX2_19796622_ChIP-Seq_MESCs_Mouse0.84208754
169JARID2_20064375_ChIP-Seq_MESCs_Mouse0.84028516
170NANOG_18555785_Chip-Seq_ESCs_Mouse0.82670390
171SRF_21415370_ChIP-Seq_HL-1_Mouse0.82517130
172MYC_19079543_ChIP-ChIP_MESCs_Mouse0.81725142
173MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.80433338
174DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.80221129
175RNF2_18974828_ChIP-Seq_MESCs_Mouse0.80179656
176EZH2_18974828_ChIP-Seq_MESCs_Mouse0.80179656
177ZFP57_27257070_Chip-Seq_ESCs_Mouse0.80150468
178EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.77637654
179MTF2_20144788_ChIP-Seq_MESCs_Mouse0.77313631

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001348_abnormal_lacrimal_gland5.84950334
2MP0008877_abnormal_DNA_methylation5.74921051
3MP0009379_abnormal_foot_pigmentation4.83871775
4MP0002163_abnormal_gland_morphology4.36032572
5MP0001346_abnormal_lacrimal_gland3.73211419
6MP0010368_abnormal_lymphatic_system3.04900202
7MP0001835_abnormal_antigen_presentation2.93817434
8MP0003787_abnormal_imprinting2.89002421
9MP0004147_increased_porphyrin_level2.88167425
10MP0004270_analgesia2.87802766
11MP0002148_abnormal_hypersensitivity_rea2.72170739
12MP0009780_abnormal_chondrocyte_physiolo2.64913767
13MP0003123_paternal_imprinting2.62541480
14MP0001984_abnormal_olfaction2.61230574
15MP0005360_urolithiasis2.56120157
16MP0005075_abnormal_melanosome_morpholog2.50702868
17MP0008058_abnormal_DNA_repair2.48176726
18MP0001529_abnormal_vocalization2.48140176
19MP0002254_reproductive_system_inflammat2.47592844
20MP0002837_dystrophic_cardiac_calcinosis2.46967169
21MP0002102_abnormal_ear_morphology2.43436694
22MP0001968_abnormal_touch/_nociception2.39880887
23MP0001879_abnormal_lymphatic_vessel2.39197908
24MP0002736_abnormal_nociception_after2.33273814
25MP0002160_abnormal_reproductive_system2.26986231
26MP0005551_abnormal_eye_electrophysiolog2.17177203
27MP0005379_endocrine/exocrine_gland_phen2.17119293
28MP0000685_abnormal_immune_system2.16330818
29MP0002006_tumorigenesis2.16103867
30MP0002822_catalepsy2.15829631
31MP0006072_abnormal_retinal_apoptosis2.05400422
32MP0004510_myositis1.99974342
33MP0005408_hypopigmentation1.97070798
34MP0000372_irregular_coat_pigmentation1.83046450
35MP0003436_decreased_susceptibility_to1.82827520
36MP0005389_reproductive_system_phenotype1.81147259
37MP0001485_abnormal_pinna_reflex1.79483163
38MP0009785_altered_susceptibility_to1.76172316
39MP0005645_abnormal_hypothalamus_physiol1.70606403
40MP0008057_abnormal_DNA_replication1.67401290
41MP0005386_behavior/neurological_phenoty1.67061818
42MP0004924_abnormal_behavior1.67061818
43MP0008004_abnormal_stomach_pH1.66095221
44MP0005310_abnormal_salivary_gland1.64928923
45MP0002166_altered_tumor_susceptibility1.61715393
46MP0001790_abnormal_immune_system1.60816603
47MP0005387_immune_system_phenotype1.60816603
48MP0005220_abnormal_exocrine_pancreas1.60751715
49MP0003880_abnormal_central_pattern1.60581339
50MP0003698_abnormal_male_reproductive1.59259016
51MP0005025_abnormal_response_to1.53700788
52MP0004859_abnormal_synaptic_plasticity1.53178641
53MP0004883_abnormal_blood_vessel1.53169740
54MP0008789_abnormal_olfactory_epithelium1.52689279
55MP0001929_abnormal_gametogenesis1.51564650
56MP0002210_abnormal_sex_determination1.51116671
57MP0000516_abnormal_urinary_system1.48765767
58MP0005367_renal/urinary_system_phenotyp1.48765767
59MP0002734_abnormal_mechanical_nocicepti1.46681054
60MP0000013_abnormal_adipose_tissue1.43915761
61MP0002419_abnormal_innate_immunity1.43701128
62MP0002751_abnormal_autonomic_nervous1.40877798
63MP0005174_abnormal_tail_pigmentation1.40683452
64MP0006276_abnormal_autonomic_nervous1.38156014
65MP0003186_abnormal_redox_activity1.36733328
66MP0005670_abnormal_white_adipose1.34641577
67MP0001145_abnormal_male_reproductive1.34371980
68MP0005000_abnormal_immune_tolerance1.34318137
69MP0004019_abnormal_vitamin_homeostasis1.32963678
70MP0005084_abnormal_gallbladder_morpholo1.32090223
71MP0006082_CNS_inflammation1.29634279
72MP0000653_abnormal_sex_gland1.29187917
73MP0003656_abnormal_erythrocyte_physiolo1.28385541
74MP0002876_abnormal_thyroid_physiology1.28224518
75MP0005410_abnormal_fertilization1.27333356
76MP0008775_abnormal_heart_ventricle1.27159042
77MP0001853_heart_inflammation1.25037213
78MP0005253_abnormal_eye_physiology1.23955127
79MP0005647_abnormal_sex_gland1.21754242
80MP0002735_abnormal_chemical_nociception1.21726135
81MP0000631_abnormal_neuroendocrine_gland1.21583829
82MP0003172_abnormal_lysosome_physiology1.20794215
83MP0010155_abnormal_intestine_physiology1.20000662
84MP0006036_abnormal_mitochondrial_physio1.19531411
85MP0003868_abnormal_feces_composition1.18385099
86MP0003718_maternal_effect1.16271858
87MP0001545_abnormal_hematopoietic_system1.15582067
88MP0005397_hematopoietic_system_phenotyp1.15582067
89MP0002067_abnormal_sensory_capabilities1.14978880
90MP0000920_abnormal_myelination1.14616493
91MP0009046_muscle_twitch1.10615758
92MP0008872_abnormal_physiological_respon1.10111486
93MP0004142_abnormal_muscle_tone1.09619142
94MP0003448_altered_tumor_morphology1.09213323
95MP0001919_abnormal_reproductive_system1.08351340
96MP0002938_white_spotting1.06512559
97MP0005164_abnormal_response_to1.04499402
98MP0005394_taste/olfaction_phenotype1.04138473
99MP0005499_abnormal_olfactory_system1.04138473
100MP0002396_abnormal_hematopoietic_system1.02476992
101MP0001986_abnormal_taste_sensitivity1.01672273
102MP0000015_abnormal_ear_pigmentation1.01276697
103MP0002138_abnormal_hepatobiliary_system0.97952481
104MP0001905_abnormal_dopamine_level0.97671930
105MP0002557_abnormal_social/conspecific_i0.96790360
106MP0002653_abnormal_ependyma_morphology0.96078767
107MP0004133_heterotaxia0.94366730
108MP0005646_abnormal_pituitary_gland0.94211241
109MP0000778_abnormal_nervous_system0.92891964
110MP0002095_abnormal_skin_pigmentation0.91804501
111MP0001764_abnormal_homeostasis0.90448094
112MP0002723_abnormal_immune_serum0.89373682
113MP0005332_abnormal_amino_acid0.88286331
114MP0002638_abnormal_pupillary_reflex0.88031118
115MP0002184_abnormal_innervation0.87968976
116MP0002064_seizures0.87855445
117MP0001819_abnormal_immune_cell0.86840242
118MP0005171_absent_coat_pigmentation0.86606337
119MP0002452_abnormal_antigen_presenting0.85785255
120MP0004484_altered_response_of0.85650953
121MP0004145_abnormal_muscle_electrophysio0.85437348
122MP0000639_abnormal_adrenal_gland0.84770338
123MP0001119_abnormal_female_reproductive0.84494693
124MP0001944_abnormal_pancreas_morphology0.84445766
125MP0005058_abnormal_lysosome_morphology0.84206146
126MP0001845_abnormal_inflammatory_respons0.83865795
127MP0000371_diluted_coat_color0.83776018
128MP0002234_abnormal_pharynx_morphology0.83620082
129MP0002420_abnormal_adaptive_immunity0.83215144
130MP0003303_peritoneal_inflammation0.83115271
131MP0002136_abnormal_kidney_physiology0.82904773
132MP0010352_gastrointestinal_tract_polyps0.82313118
133MP0003635_abnormal_synaptic_transmissio0.81961561
134MP0001970_abnormal_pain_threshold0.79974845
135MP0010329_abnormal_lipoprotein_level0.79854724
136MP0001756_abnormal_urination0.79846325
137MP0002229_neurodegeneration0.79646629
138MP0000427_abnormal_hair_cycle0.79557050
139MP0002733_abnormal_thermal_nociception0.78849718
140MP0002075_abnormal_coat/hair_pigmentati0.78731073
141MP0002572_abnormal_emotion/affect_behav0.78632463
142MP0005257_abnormal_intraocular_pressure0.78263081
143MP0005423_abnormal_somatic_nervous0.76062264
144MP0004742_abnormal_vestibular_system0.75712816
145MP0006035_abnormal_mitochondrial_morpho0.75531181
146MP0004885_abnormal_endolymph0.74847400
147MP0009333_abnormal_splenocyte_physiolog0.74736927
148MP0005636_abnormal_mineral_homeostasis0.71709343
149MP0008874_decreased_physiological_sensi0.70692128
150MP0000955_abnormal_spinal_cord0.70589994
151MP0003136_yellow_coat_color0.70113662
152MP0005166_decreased_susceptibility_to0.69679426
153MP0003195_calcinosis0.68671262
154MP0009697_abnormal_copulation0.68512290
155MP0005195_abnormal_posterior_eye0.68255795
156MP0000249_abnormal_blood_vessel0.66402837
157* MP0001486_abnormal_startle_reflex0.66205143
158MP0000538_abnormal_urinary_bladder0.65438262
159MP0003075_altered_response_to0.64987915
160MP0002272_abnormal_nervous_system0.64239037
161MP0008469_abnormal_protein_level0.63331150
162MP0004134_abnormal_chest_morphology0.63174769
163MP0000716_abnormal_immune_system0.62671888
164MP0006054_spinal_hemorrhage0.62357926
165MP0005535_abnormal_body_temperature0.62308871
166MP0009745_abnormal_behavioral_response0.61747589
167MP0003121_genomic_imprinting0.61322747
168MP0005167_abnormal_blood-brain_barrier0.60023975
169MP0000569_abnormal_digit_pigmentation0.57886795
170MP0000604_amyloidosis0.56852685
171MP0000343_altered_response_to0.56201293
172MP0003191_abnormal_cellular_cholesterol0.54099202
173MP0009764_decreased_sensitivity_to0.52920232

Predicted human phenotypes

RankGene SetZ-score
1Reticulocytopenia (HP:0001896)5.63120402
2Abnormal number of erythroid precursors (HP:0012131)4.87928295
3Abnormality of cells of the erythroid lineage (HP:0012130)4.81675130
4Autoimmune thrombocytopenia (HP:0001973)4.43691875
5Medial flaring of the eyebrow (HP:0010747)4.33736334
6Macrocytic anemia (HP:0001972)4.19616292
7Renal Fanconi syndrome (HP:0001994)4.12754430
8Abnormality of placental membranes (HP:0011409)4.10426447
9Amniotic constriction ring (HP:0009775)4.10426447
10Increased hepatocellular lipid droplets (HP:0006565)4.08879019
11Acute necrotizing encephalopathy (HP:0006965)4.03967075
12Exertional dyspnea (HP:0002875)3.98165455
13Retrobulbar optic neuritis (HP:0100654)3.92189612
14Optic neuritis (HP:0100653)3.92189612
15Hyperventilation (HP:0002883)3.81563427
16Acute encephalopathy (HP:0006846)3.76202978
17Gingivitis (HP:0000230)3.76014034
18Increased IgM level (HP:0003496)3.61333026
19Myokymia (HP:0002411)3.61178892
20Cerebral hemorrhage (HP:0001342)3.58900520
21Abnormal mitochondria in muscle tissue (HP:0008316)3.57235996
22Hepatocellular necrosis (HP:0001404)3.54861168
23Lipid accumulation in hepatocytes (HP:0006561)3.54750842
24Parakeratosis (HP:0001036)3.53848212
25Nephronophthisis (HP:0000090)3.49956276
26Abnormality of the labia minora (HP:0012880)3.49481306
27Mitochondrial inheritance (HP:0001427)3.47701615
28Failure to thrive in infancy (HP:0001531)3.38319797
29Progressive macrocephaly (HP:0004481)3.37400696
30Orchitis (HP:0100796)3.34462525
31Congenital primary aphakia (HP:0007707)3.30038186
32Recurrent abscess formation (HP:0002722)3.29559364
33Abnormal hemoglobin (HP:0011902)3.28368344
34Gait imbalance (HP:0002141)3.26000607
35Pancreatic fibrosis (HP:0100732)3.22761928
36Protruding tongue (HP:0010808)3.22552055
37Pancreatic cysts (HP:0001737)3.20303758
38Recurrent bacterial skin infections (HP:0005406)3.17992470
39Myositis (HP:0100614)3.16621427
40Pustule (HP:0200039)3.11319487
41Abnormality of midbrain morphology (HP:0002418)3.08695352
42Molar tooth sign on MRI (HP:0002419)3.08695352
43Hepatic necrosis (HP:0002605)3.08553018
44Eczematoid dermatitis (HP:0000976)3.03243966
45Abnormality of renal resorption (HP:0011038)2.98826222
46Abnormality of the renal medulla (HP:0100957)2.97011351
47Absent speech (HP:0001344)2.96237236
48Periodontitis (HP:0000704)2.95579784
49Cerebral edema (HP:0002181)2.94446707
50Abnormal biliary tract physiology (HP:0012439)2.92577079
51Bile duct proliferation (HP:0001408)2.92577079
52Pallor (HP:0000980)2.90305283
53Increased intramyocellular lipid droplets (HP:0012240)2.86648613
54Nephrogenic diabetes insipidus (HP:0009806)2.83920789
55Fair hair (HP:0002286)2.82097721
56Increased CSF lactate (HP:0002490)2.82064961
57Abnormality of homocysteine metabolism (HP:0010919)2.73035136
58Homocystinuria (HP:0002156)2.73035136
59Tubular atrophy (HP:0000092)2.70328180
60Disproportionate short-trunk short stature (HP:0003521)2.70278732
61Attenuation of retinal blood vessels (HP:0007843)2.67779826
62Colon cancer (HP:0003003)2.66759977
63Genital tract atresia (HP:0001827)2.66700346
64Hemiparesis (HP:0001269)2.63217936
65Hyperglycinemia (HP:0002154)2.60584480
66Chromsome breakage (HP:0040012)2.59823038
67Thrombocytosis (HP:0001894)2.57953336
68Recurrent gram-negative bacterial infections (HP:0005420)2.55749185
69Abnormality of the renal cortex (HP:0011035)2.55225474
70Abnormal rod and cone electroretinograms (HP:0008323)2.54434087
71Global brain atrophy (HP:0002283)2.54288533
72Xerostomia (HP:0000217)2.53460927
73Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.52627266
74Abnormality of alanine metabolism (HP:0010916)2.52627266
75Hyperalaninemia (HP:0003348)2.52627266
76Chromosomal breakage induced by crosslinking agents (HP:0003221)2.51502297
77Glycosuria (HP:0003076)2.51091014
78Abnormality of urine glucose concentration (HP:0011016)2.51091014
79Keratoconjunctivitis sicca (HP:0001097)2.50452405
80Volvulus (HP:0002580)2.49142934
81Type II lissencephaly (HP:0007260)2.47479736
82Elevated erythrocyte sedimentation rate (HP:0003565)2.47048615
83Stomatitis (HP:0010280)2.43842132
84Poor coordination (HP:0002370)2.39963452
85Inability to walk (HP:0002540)2.36175205
86Vasculitis (HP:0002633)2.36032460
87Abnormality of the pubic bones (HP:0003172)2.36011747
88Vaginal atresia (HP:0000148)2.35896804
89Increased muscle lipid content (HP:0009058)2.35840310
90Aplasia/Hypoplasia of the tibia (HP:0005772)2.34618630
91Hypoplastic labia majora (HP:0000059)2.33643049
92Aplasia/Hypoplasia of the sternum (HP:0006714)2.32560646
93Long clavicles (HP:0000890)2.32438097
9411 pairs of ribs (HP:0000878)2.32227798
95Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.31639449
96Urticaria (HP:0001025)2.30858082
97Hypoplastic iliac wings (HP:0002866)2.29219839
98Absent rod-and cone-mediated responses on ERG (HP:0007688)2.28167729
99Abnormality of aspartate family amino acid metabolism (HP:0010899)2.27649623
100Hypergonadotropic hypogonadism (HP:0000815)2.27080848
101Brushfield spots (HP:0001088)2.26828680
102Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.26083981
103Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.23439138
104Clumsiness (HP:0002312)2.21931470
105Widely spaced teeth (HP:0000687)2.21233627
106Chronic obstructive pulmonary disease (HP:0006510)2.20934598
107Obstructive lung disease (HP:0006536)2.20934598
108Leukodystrophy (HP:0002415)2.20865507
1093-Methylglutaconic aciduria (HP:0003535)2.20536811
110Keratoconjunctivitis (HP:0001096)2.19809681
111Bony spicule pigmentary retinopathy (HP:0007737)2.19405804
112Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.16412004
113Abnormality of the labia majora (HP:0012881)2.16227238
114True hermaphroditism (HP:0010459)2.15456834
115Abolished electroretinogram (ERG) (HP:0000550)2.13907359
116Amyloidosis (HP:0011034)2.13836962
117Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.13040622
118Short tibia (HP:0005736)2.12919393
119Duplication of thumb phalanx (HP:0009942)2.12289703
120Absent thumb (HP:0009777)2.11731043
121Microvesicular hepatic steatosis (HP:0001414)2.11002255
122Pheochromocytoma (HP:0002666)2.10920303
123Decreased lacrimation (HP:0000633)2.09164446
124Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.08980079
125Abnormal protein N-linked glycosylation (HP:0012347)2.08980079
126Abnormal protein glycosylation (HP:0012346)2.08980079
127Abnormal glycosylation (HP:0012345)2.08980079
128Abnormality of macrophages (HP:0004311)2.07911871
129Megaloblastic anemia (HP:0001889)2.07231100
130Neurofibrillary tangles (HP:0002185)2.07126987
131Respiratory difficulties (HP:0002880)2.06620530
132Prolonged neonatal jaundice (HP:0006579)2.06290276
133Congenital, generalized hypertrichosis (HP:0004540)2.06230842
134Eosinophilia (HP:0001880)2.05753176
135Hypomagnesemia (HP:0002917)2.05722205
136Reduced antithrombin III activity (HP:0001976)2.03441889
137Flat occiput (HP:0005469)2.03421988
138Hypoplasia of the pons (HP:0012110)2.01965860
139Generalized myoclonic seizures (HP:0002123)2.01165626
140Broad-based gait (HP:0002136)2.00836607
141Birth length less than 3rd percentile (HP:0003561)2.00611369
142Ankyloglossia (HP:0010296)2.00095994
143Abnormality of methionine metabolism (HP:0010901)1.99199285
144Supranuclear gaze palsy (HP:0000605)1.98897620
145Hyperphosphaturia (HP:0003109)1.97762521
146Hypsarrhythmia (HP:0002521)1.97672765
147Gaze-evoked nystagmus (HP:0000640)1.96812229
148Inappropriate behavior (HP:0000719)1.96236782
149Drooling (HP:0002307)1.94749112
150Hemoptysis (HP:0002105)1.94634356
151Hepatoblastoma (HP:0002884)1.94344566
152Memory impairment (HP:0002354)1.93810558
153Abnormality of sulfur amino acid metabolism (HP:0004339)1.93714547
154Opisthotonus (HP:0002179)1.92394841
155Generalized hypopigmentation of hair (HP:0011358)1.91667059
156Abnormality of the pleura (HP:0002103)1.90895751
157Status epilepticus (HP:0002133)1.90882007
158Abnormality of macular pigmentation (HP:0008002)1.89958865
159Pulmonary infiltrates (HP:0002113)1.89459077
160Aplasia/Hypoplasia of the spleen (HP:0010451)1.89244431
161Congenital stationary night blindness (HP:0007642)1.89180957
162EEG with generalized epileptiform discharges (HP:0011198)1.88352368
163Asplenia (HP:0001746)1.87487553
164Postnatal microcephaly (HP:0005484)1.87404453
165Epileptic encephalopathy (HP:0200134)1.87246153
166Mediastinal lymphadenopathy (HP:0100721)1.86231811
167Polydipsia (HP:0001959)1.86014801
168Abnormal drinking behavior (HP:0030082)1.86014801
169Congenital ichthyosiform erythroderma (HP:0007431)1.85391842
170Joint swelling (HP:0001386)1.84985410
171Postaxial hand polydactyly (HP:0001162)1.83564995
172Spontaneous abortion (HP:0005268)1.83222445
173Retinitis pigmentosa (HP:0000510)1.83111066
174Febrile seizures (HP:0002373)1.82876887
175Wrist flexion contracture (HP:0001239)1.82303314
176Type I transferrin isoform profile (HP:0003642)1.82102636
177Autoimmune hemolytic anemia (HP:0001890)1.81804588
178Cystic liver disease (HP:0006706)1.81784235
179Poor eye contact (HP:0000817)1.81684625
180Hypergammaglobulinemia (HP:0010702)1.81297426
181Aplasia/Hypoplasia of the sacrum (HP:0008517)1.80609805
182Constricted visual fields (HP:0001133)1.80583488
183Abnormality of glycine metabolism (HP:0010895)1.80513341
184Abnormality of serine family amino acid metabolism (HP:0010894)1.80513341
185Abnormality of DNA repair (HP:0003254)1.79346393
186Epileptiform EEG discharges (HP:0011182)1.79000640
187Hyperglycinuria (HP:0003108)1.78159737
188Fibular aplasia (HP:0002990)1.77821326
189Cerebellar dysplasia (HP:0007033)1.77037957
190CNS demyelination (HP:0007305)1.77026389
191Short phalanx of the thumb (HP:0009660)1.76884623
192Dynein arm defect of respiratory motile cilia (HP:0012255)1.76209365
193Respiratory failure (HP:0002878)1.75105154
194Gangrene (HP:0100758)1.71605245
195Recurrent skin infections (HP:0001581)1.71598725
196Premature loss of primary teeth (HP:0006323)1.71022221
197Abnormality of the pericardium (HP:0001697)1.69694554
198Cheilitis (HP:0100825)1.68317121
199Abnormal urine phosphate concentration (HP:0012599)1.67915867

Predicted kinase interactions (KEA)

RankGene SetZ-score
1SRPK15.30552300
2PINK14.32616501
3BCR3.83966913
4EPHB13.64680332
5MAP3K143.49058631
6WNK33.40960536
7MAP4K23.34262299
8MAP3K133.22499876
9MAPKAPK32.71949496
10INSRR2.62793363
11NME22.38678684
12MST42.23763120
13FLT32.09719304
14JAK11.99974603
15MST1R1.93867061
16MAP3K91.89407997
17EPHA31.88074957
18MELK1.87013508
19MAP3K41.80306712
20PNCK1.77463795
21RIPK41.75492233
22GRK11.75231200
23EEF2K1.73824692
24DYRK21.71095352
25OXSR11.70859227
26RPS6KB21.64553431
27RIPK11.61617813
28BRSK21.61542856
29BCKDK1.56828844
30MKNK21.53608896
31MKNK11.53461873
32STK391.53454985
33JAK31.52902352
34ABL21.50800148
35NTRK31.49827863
36BMPR1B1.49736839
37LRRK21.44020988
38PLK41.40567575
39IKBKB1.38808079
40TNIK1.31406832
41CASK1.28215452
42CHUK1.27691462
43SIK21.27139283
44PBK1.26286648
45MAPKAPK51.24031873
46UHMK11.23001082
47TNK21.20852553
48BMPR21.18804829
49MAP3K51.17551848
50JAK21.13544958
51DAPK21.10065400
52FGFR21.09895804
53TLK11.08962730
54TRPM71.05759402
55MUSK1.04679832
56PTK2B1.03172507
57NUAK11.03093727
58PRKD30.96619473
59PAK30.95438810
60MARK10.94448440
61PIK3CA0.93534766
62FGR0.93503176
63MAPK40.93425913
64MAP3K20.91816530
65IRAK10.91127317
66ACVR1B0.88855456
67RPS6KA50.88366533
68NLK0.86454896
69OBSCN0.84999211
70CSNK1G30.84356219
71RPS6KA40.84260701
72FGFR30.83261898
73CDK50.82487689
74WNK40.81807544
75FGFR40.81800697
76ZAK0.80332050
77BMX0.78542064
78PASK0.77317896
79CDK190.77241274
80TEC0.76707014
81STK160.76663785
82MAP2K40.76082334
83CSF1R0.75966920
84PRKCE0.74994659
85STK110.74565425
86SCYL20.74560114
87PIM20.73188454
88PRKCD0.72494953
89STK38L0.71745611
90MAPK130.70470250
91CSNK1A1L0.69211666
92SGK2230.68811482
93SGK4940.68811482
94STK40.65773797
95PRKCG0.65603042
96ATM0.64858700
97MET0.64823549
98TGFBR10.64032647
99PLK20.63349725
100MAP3K10.61356524
101MARK30.61183413
102AKT20.60648254
103PDPK10.60519709
104ERBB30.58622506
105DYRK1A0.58034175
106TAOK30.57903456
107CAMK10.56552799
108PLK30.56183902
109MAP3K110.55792286
110CSNK1D0.55085083
111MARK20.52836317
112SYK0.52701921
113NTRK10.52469740
114VRK10.51960248
115MINK10.51479394
116FRK0.51065205
117EIF2AK30.50697779
118CAMK40.49941403
119PRKACB0.49724798
120CAMKK20.48383029
121CCNB10.47317131
122PAK60.47201801
123VRK20.46920200
124RPS6KB10.46821887
125PLK10.45650983
126RPS6KC10.45516436
127RPS6KL10.45516436
128DYRK1B0.44950867
129ADRBK10.44040021
130BUB10.43940254
131MAPKAPK20.43449819
132PHKG20.43132083
133PHKG10.43132083
134PDK10.42961314
135KSR20.42355545
136SGK10.41833812
137FES0.41408266
138PRKCZ0.41370195
139CSNK1A10.40112490
140PIM10.39590540
141PKN10.39226010
142NME10.38574743
143MAP3K60.37842764
144PRKCQ0.37574942
145KDR0.37529773
146CDK180.36705865
147CSNK1G10.36365220
148MAP2K70.36019690
149CSNK1G20.35968230
150ADRBK20.35956173
151PRKACA0.35663474
152CAMK2D0.35594236
153GRK70.35373374
154PRKG10.35212765
155CDK150.35034760
156NEK90.34751447
157KIT0.34025431
158KSR10.33170498
159AURKA0.32947538
160TRIM280.32482186
161CAMK1G0.31940570
162MAP2K60.30465912
163CAMK2A0.30068101
164CDK30.30023479

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030105.91533585
2Proteasome_Homo sapiens_hsa030504.35554639
3Oxidative phosphorylation_Homo sapiens_hsa001903.81667783
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.67842229
5Parkinsons disease_Homo sapiens_hsa050123.39715630
6Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.75804872
7Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.75018235
8RNA polymerase_Homo sapiens_hsa030202.72367475
9Alzheimers disease_Homo sapiens_hsa050102.68036321
10Collecting duct acid secretion_Homo sapiens_hsa049662.53231310
11Huntingtons disease_Homo sapiens_hsa050162.31851398
12Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.19303021
13Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051202.08874983
14Maturity onset diabetes of the young_Homo sapiens_hsa049502.03387681
15Ether lipid metabolism_Homo sapiens_hsa005652.01937258
16Allograft rejection_Homo sapiens_hsa053301.95512485
17Fanconi anemia pathway_Homo sapiens_hsa034601.91521316
18Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.90662972
19Intestinal immune network for IgA production_Homo sapiens_hsa046721.90185759
20Peroxisome_Homo sapiens_hsa041461.86895180
21Phagosome_Homo sapiens_hsa041451.84546099
22Regulation of autophagy_Homo sapiens_hsa041401.83999876
23Selenocompound metabolism_Homo sapiens_hsa004501.82876639
24Pertussis_Homo sapiens_hsa051331.76908897
25Graft-versus-host disease_Homo sapiens_hsa053321.74786871
26Sphingolipid metabolism_Homo sapiens_hsa006001.74782681
27Phototransduction_Homo sapiens_hsa047441.74267189
28Basal transcription factors_Homo sapiens_hsa030221.71150116
29alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.65988653
30Primary bile acid biosynthesis_Homo sapiens_hsa001201.64707830
31Leishmaniasis_Homo sapiens_hsa051401.60903847
32Non-homologous end-joining_Homo sapiens_hsa034501.56841849
33Linoleic acid metabolism_Homo sapiens_hsa005911.56136994
34Tuberculosis_Homo sapiens_hsa051521.54834152
35Nucleotide excision repair_Homo sapiens_hsa034201.53590320
36Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.51800282
37Sulfur relay system_Homo sapiens_hsa041221.48135236
38Nitrogen metabolism_Homo sapiens_hsa009101.46777233
39African trypanosomiasis_Homo sapiens_hsa051431.45985104
40Type I diabetes mellitus_Homo sapiens_hsa049401.45189936
41Folate biosynthesis_Homo sapiens_hsa007901.38811506
42Autoimmune thyroid disease_Homo sapiens_hsa053201.37377642
43Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.37128398
44Synaptic vesicle cycle_Homo sapiens_hsa047211.37054775
45Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.35697717
46Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.33337139
47Rheumatoid arthritis_Homo sapiens_hsa053231.31553629
48Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.25060964
49Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.24951726
50Pentose and glucuronate interconversions_Homo sapiens_hsa000401.24339508
51Vibrio cholerae infection_Homo sapiens_hsa051101.22136222
52Phenylalanine metabolism_Homo sapiens_hsa003601.22100227
53Cardiac muscle contraction_Homo sapiens_hsa042601.19225154
54Steroid biosynthesis_Homo sapiens_hsa001001.18520301
55Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.17762521
56Tryptophan metabolism_Homo sapiens_hsa003801.17098953
57N-Glycan biosynthesis_Homo sapiens_hsa005101.15367284
58Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.14136977
59Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.13571922
60Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.11893885
61Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.11221792
62TNF signaling pathway_Homo sapiens_hsa046681.09884396
63Pyrimidine metabolism_Homo sapiens_hsa002401.00293797
64Asthma_Homo sapiens_hsa053101.00267080
65NOD-like receptor signaling pathway_Homo sapiens_hsa046210.96649253
66Protein export_Homo sapiens_hsa030600.95672121
67Olfactory transduction_Homo sapiens_hsa047400.95283128
68Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.94970852
69Pyruvate metabolism_Homo sapiens_hsa006200.93580225
70Retinol metabolism_Homo sapiens_hsa008300.91495989
71Purine metabolism_Homo sapiens_hsa002300.91356367
72Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.91112686
73Mismatch repair_Homo sapiens_hsa034300.90761458
74Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.89815284
75Glycerolipid metabolism_Homo sapiens_hsa005610.87895459
76Nicotine addiction_Homo sapiens_hsa050330.87336350
77RNA degradation_Homo sapiens_hsa030180.87331202
78Metabolic pathways_Homo sapiens_hsa011000.84091180
79Taste transduction_Homo sapiens_hsa047420.83371587
80Chemokine signaling pathway_Homo sapiens_hsa040620.81999345
81Influenza A_Homo sapiens_hsa051640.79893181
82Homologous recombination_Homo sapiens_hsa034400.79180006
83Chemical carcinogenesis_Homo sapiens_hsa052040.79107954
84Salmonella infection_Homo sapiens_hsa051320.79106312
85Base excision repair_Homo sapiens_hsa034100.78156297
86RNA transport_Homo sapiens_hsa030130.78026844
87Steroid hormone biosynthesis_Homo sapiens_hsa001400.76518546
88Fatty acid degradation_Homo sapiens_hsa000710.74986193
89GABAergic synapse_Homo sapiens_hsa047270.73429155
90Tyrosine metabolism_Homo sapiens_hsa003500.72647764
91Viral myocarditis_Homo sapiens_hsa054160.71477914
92ABC transporters_Homo sapiens_hsa020100.70724762
93Insulin secretion_Homo sapiens_hsa049110.68951634
94Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.68852019
95RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.67741188
96Caffeine metabolism_Homo sapiens_hsa002320.67522565
97Legionellosis_Homo sapiens_hsa051340.66833943
98Arachidonic acid metabolism_Homo sapiens_hsa005900.66698418
99Cholinergic synapse_Homo sapiens_hsa047250.64778997
100Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.63152382
101Leukocyte transendothelial migration_Homo sapiens_hsa046700.62798730
102Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.62365205
103Glycerophospholipid metabolism_Homo sapiens_hsa005640.61822571
104Cocaine addiction_Homo sapiens_hsa050300.61693114
105Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.60245924
106Shigellosis_Homo sapiens_hsa051310.59248908
107Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.59083857
108Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.57475660
109Osteoclast differentiation_Homo sapiens_hsa043800.56535597
110Sulfur metabolism_Homo sapiens_hsa009200.56277044
111Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.55960083
112Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.55683747
113Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.53595929
114Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.53371011
115Apoptosis_Homo sapiens_hsa042100.53243724
116Toll-like receptor signaling pathway_Homo sapiens_hsa046200.52376436
117Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.52184049
118DNA replication_Homo sapiens_hsa030300.49105169
119Butanoate metabolism_Homo sapiens_hsa006500.48767001
120Neurotrophin signaling pathway_Homo sapiens_hsa047220.48553771
121Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.48121972
122Fatty acid metabolism_Homo sapiens_hsa012120.48025782
123Axon guidance_Homo sapiens_hsa043600.47837866
124Arginine biosynthesis_Homo sapiens_hsa002200.47705664
125Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.46768990
126Glutathione metabolism_Homo sapiens_hsa004800.46511079
127Lysine degradation_Homo sapiens_hsa003100.45501077
128Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.45430298
129AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.45245102
130Oocyte meiosis_Homo sapiens_hsa041140.44393852
131Glutamatergic synapse_Homo sapiens_hsa047240.43973690
132ErbB signaling pathway_Homo sapiens_hsa040120.43885317
133Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.43032975
134Cysteine and methionine metabolism_Homo sapiens_hsa002700.42652010
135Notch signaling pathway_Homo sapiens_hsa043300.41856913
136Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.41628973
137Glucagon signaling pathway_Homo sapiens_hsa049220.41318655
138Circadian rhythm_Homo sapiens_hsa047100.41313709
139Calcium signaling pathway_Homo sapiens_hsa040200.40638109
140Morphine addiction_Homo sapiens_hsa050320.39259698
141Prion diseases_Homo sapiens_hsa050200.38686458
142Toxoplasmosis_Homo sapiens_hsa051450.38618495
143Serotonergic synapse_Homo sapiens_hsa047260.37619761
144Systemic lupus erythematosus_Homo sapiens_hsa053220.35481615
145Vitamin digestion and absorption_Homo sapiens_hsa049770.35234694
146Spliceosome_Homo sapiens_hsa030400.35045277
147Dorso-ventral axis formation_Homo sapiens_hsa043200.33572517
148Lysosome_Homo sapiens_hsa041420.33030852
149Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.31539761
150MAPK signaling pathway_Homo sapiens_hsa040100.29913636
151Malaria_Homo sapiens_hsa051440.29247163
152Histidine metabolism_Homo sapiens_hsa003400.28195834
153One carbon pool by folate_Homo sapiens_hsa006700.27921395
154Sphingolipid signaling pathway_Homo sapiens_hsa040710.27851971
155Circadian entrainment_Homo sapiens_hsa047130.26035923
156NF-kappa B signaling pathway_Homo sapiens_hsa040640.25743000
157Epstein-Barr virus infection_Homo sapiens_hsa051690.24189770
158Amoebiasis_Homo sapiens_hsa051460.23420437
159Measles_Homo sapiens_hsa051620.23029796
160B cell receptor signaling pathway_Homo sapiens_hsa046620.21241294
161Propanoate metabolism_Homo sapiens_hsa006400.20622708
162Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.20251836
163Proteoglycans in cancer_Homo sapiens_hsa052050.17892350
164Dopaminergic synapse_Homo sapiens_hsa047280.17880831
165beta-Alanine metabolism_Homo sapiens_hsa004100.16751924
1662-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.14846488

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