ATP6V0A2

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 subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)4.20000667
2L-fucose catabolic process (GO:0042355)3.95132471
3fucose catabolic process (GO:0019317)3.95132471
4L-fucose metabolic process (GO:0042354)3.95132471
5interkinetic nuclear migration (GO:0022027)3.90147234
6rRNA catabolic process (GO:0016075)3.89960229
7regulation of nuclear cell cycle DNA replication (GO:0033262)3.89314433
8activated T cell proliferation (GO:0050798)3.88497527
9replication fork processing (GO:0031297)3.75805003
10virion attachment to host cell (GO:0019062)3.72947292
11adhesion of symbiont to host cell (GO:0044650)3.72947292
12double-strand break repair via homologous recombination (GO:0000724)3.67822704
13recombinational repair (GO:0000725)3.64743322
14indolalkylamine metabolic process (GO:0006586)3.59815084
15RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.56306237
16synapsis (GO:0007129)3.54959009
17negative regulation of translation, ncRNA-mediated (GO:0040033)3.54062458
18regulation of translation, ncRNA-mediated (GO:0045974)3.54062458
19negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.54062458
20negative regulation of DNA-dependent DNA replication (GO:2000104)3.51838200
21histone H3-K9 methylation (GO:0051567)3.44656877
22reciprocal meiotic recombination (GO:0007131)3.41921925
23reciprocal DNA recombination (GO:0035825)3.41921925
24neural tube formation (GO:0001841)3.40697260
25indole-containing compound catabolic process (GO:0042436)3.33223352
26indolalkylamine catabolic process (GO:0046218)3.33223352
27tryptophan catabolic process (GO:0006569)3.33223352
28actin filament depolymerization (GO:0030042)3.32535566
29DNA deamination (GO:0045006)3.32375177
30definitive hemopoiesis (GO:0060216)3.31112340
31negative regulation of telomere maintenance (GO:0032205)3.30276148
32epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.28842011
33tryptophan metabolic process (GO:0006568)3.24878045
34somatic diversification of immune receptors via somatic mutation (GO:0002566)3.23866306
35somatic hypermutation of immunoglobulin genes (GO:0016446)3.23866306
36L-amino acid import (GO:0043092)3.23546431
37meiotic chromosome segregation (GO:0045132)3.16542278
38maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.15584102
39adhesion of symbiont to host (GO:0044406)3.15006059
40ensheathment of neurons (GO:0007272)3.14669262
41axon ensheathment (GO:0008366)3.14669262
42response to hepatocyte growth factor (GO:0035728)3.14667798
43cellular response to hepatocyte growth factor stimulus (GO:0035729)3.14667798
44DNA double-strand break processing (GO:0000729)3.11239395
45intestinal absorption (GO:0050892)3.10496248
46myelination (GO:0042552)3.09339369
47cellular ketone body metabolic process (GO:0046950)3.08664286
48creatine metabolic process (GO:0006600)3.07505827
49regulation of telomere maintenance (GO:0032204)3.06624361
50piRNA metabolic process (GO:0034587)3.06479108
51axon ensheathment in central nervous system (GO:0032291)3.06470928
52central nervous system myelination (GO:0022010)3.06470928
53centriole replication (GO:0007099)3.05396185
54protein localization to endosome (GO:0036010)3.03963206
55semaphorin-plexin signaling pathway (GO:0071526)2.95726007
56amino acid import (GO:0043090)2.93723588
57response to pheromone (GO:0019236)2.92285797
58intestinal cholesterol absorption (GO:0030299)2.91192438
59kynurenine metabolic process (GO:0070189)2.89514753
60male meiosis I (GO:0007141)2.89150700
61ketone body metabolic process (GO:1902224)2.85282839
62ncRNA catabolic process (GO:0034661)2.83295589
63positive regulation of developmental pigmentation (GO:0048087)2.82721177
64DNA demethylation (GO:0080111)2.80712585
65pseudouridine synthesis (GO:0001522)2.79742465
66histone H3-K9 modification (GO:0061647)2.79001335
67preassembly of GPI anchor in ER membrane (GO:0016254)2.78639357
68regulation of centriole replication (GO:0046599)2.78533587
69positive regulation of defense response to virus by host (GO:0002230)2.73612236
70positive regulation of histone H3-K4 methylation (GO:0051571)2.73244988
71resolution of meiotic recombination intermediates (GO:0000712)2.73116111
72cellular response to exogenous dsRNA (GO:0071360)2.72584410
73DNA methylation involved in gamete generation (GO:0043046)2.70938183
74protein K6-linked ubiquitination (GO:0085020)2.68731380
75detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.68203479
76regulation of histone H3-K9 methylation (GO:0051570)2.67707341
77monoubiquitinated protein deubiquitination (GO:0035520)2.67604682
78negative regulation by host of viral transcription (GO:0043922)2.65168888
79tRNA modification (GO:0006400)2.63953347
80translesion synthesis (GO:0019985)2.62175223
81alpha-linolenic acid metabolic process (GO:0036109)2.61882096
82regulation of gene silencing by RNA (GO:0060966)2.61075540
83regulation of posttranscriptional gene silencing (GO:0060147)2.61075540
84regulation of gene silencing by miRNA (GO:0060964)2.61075540
85embryonic hemopoiesis (GO:0035162)2.59956879
86gene silencing by RNA (GO:0031047)2.57966434
87regulation of DNA endoreduplication (GO:0032875)2.57774476
88locomotory exploration behavior (GO:0035641)2.56928798
89male meiosis (GO:0007140)2.55447427
90DNA replication checkpoint (GO:0000076)2.55106118
91positive regulation of mRNA catabolic process (GO:0061014)2.54751564
92negative regulation of mast cell activation (GO:0033004)2.54742354
93protein K11-linked deubiquitination (GO:0035871)2.53189473
94cytoskeletal anchoring at plasma membrane (GO:0007016)2.52845108
95NAD biosynthetic process (GO:0009435)2.52779733
96cortical actin cytoskeleton organization (GO:0030866)2.52043382
97positive regulation of granulocyte differentiation (GO:0030854)2.51892528
98antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.51152087
99antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.51152087
100maturation of 5.8S rRNA (GO:0000460)2.50878596
101regulation of extracellular matrix disassembly (GO:0010715)2.50327243
102ubiquinone biosynthetic process (GO:0006744)2.49643141
103DNA recombination (GO:0006310)2.49146144
104double-strand break repair (GO:0006302)2.48629776
105replicative senescence (GO:0090399)2.48526935
106fatty acid elongation (GO:0030497)2.47664043
107transcytosis (GO:0045056)2.46670845
108DNA modification (GO:0006304)2.45609264
109myelination in peripheral nervous system (GO:0022011)2.45452907
110peripheral nervous system axon ensheathment (GO:0032292)2.45452907
111peptidyl-tyrosine autophosphorylation (GO:0038083)2.45010245
112cellular response to ATP (GO:0071318)2.44193412
113DNA methylation or demethylation (GO:0044728)2.43857872
114postreplication repair (GO:0006301)2.43198887
115long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)2.42854371
116mitochondrial RNA metabolic process (GO:0000959)2.41214252
117somatic diversification of immunoglobulins (GO:0016445)2.40876597
118potassium ion import (GO:0010107)2.39535667
119somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.37064554
120isotype switching (GO:0045190)2.37064554
121somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.37064554
122negative regulation of transcription regulatory region DNA binding (GO:2000678)2.36632733
123fatty-acyl-CoA biosynthetic process (GO:0046949)2.36622845
124mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.36266082
125mitochondrial respiratory chain complex I assembly (GO:0032981)2.36266082
126NADH dehydrogenase complex assembly (GO:0010257)2.36266082
127heterotypic cell-cell adhesion (GO:0034113)2.36179590
128regulation of centrosome duplication (GO:0010824)2.35955939
129positive regulation of Rho protein signal transduction (GO:0035025)2.34869021
130cilium or flagellum-dependent cell motility (GO:0001539)2.34694133
131growth hormone receptor signaling pathway (GO:0060396)2.33814213
132centrosome organization (GO:0051297)2.33810225
133tRNA processing (GO:0008033)2.33808993
134exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.33547153
135indole-containing compound metabolic process (GO:0042430)2.32818980
136nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.32804958
137regulation of endothelial cell chemotaxis (GO:2001026)2.30685035
138nerve growth factor signaling pathway (GO:0038180)2.29250642
139oligosaccharide catabolic process (GO:0009313)2.26532661
140cellular response to ethanol (GO:0071361)2.24599295
141positive regulation of actin filament depolymerization (GO:0030836)2.24363575
142thioester biosynthetic process (GO:0035384)2.22584756
143acyl-CoA biosynthetic process (GO:0071616)2.22584756
144angiotensin maturation (GO:0002003)2.21902935
145regulation of cholesterol homeostasis (GO:2000188)2.21413857
146cortical cytoskeleton organization (GO:0030865)2.20140483
147positive regulation of Rap GTPase activity (GO:0032854)2.19327726
148sodium ion export (GO:0071436)2.17916522
149positive regulation of histone deacetylation (GO:0031065)2.17690036
150membrane tubulation (GO:0097320)2.14879423
151antigen processing and presentation of endogenous antigen (GO:0019883)2.14376611
152cellular response to epinephrine stimulus (GO:0071872)2.14189092
153low-density lipoprotein particle clearance (GO:0034383)2.13746780
154regulation of gamma-delta T cell differentiation (GO:0045586)2.13253242
155ruffle organization (GO:0031529)2.13004906
156apoptotic cell clearance (GO:0043277)2.12849881
157response to lipoprotein particle (GO:0055094)2.12484579
158membrane protein ectodomain proteolysis (GO:0006509)2.11076599
159very long-chain fatty acid metabolic process (GO:0000038)2.10913545
160long-chain fatty-acyl-CoA metabolic process (GO:0035336)2.10670744
161negative T cell selection (GO:0043383)2.08554988
162myelin maintenance (GO:0043217)2.08352713
163fatty-acyl-CoA metabolic process (GO:0035337)2.07207382
164triglyceride biosynthetic process (GO:0019432)2.04056962
165sulfation (GO:0051923)2.01408890
166fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.01139037
167import into cell (GO:0098657)1.99510284
168platelet-derived growth factor receptor signaling pathway (GO:0048008)1.98545382
169cellular response to growth hormone stimulus (GO:0071378)1.97907343
170negative thymic T cell selection (GO:0045060)1.97775214
171Rap protein signal transduction (GO:0032486)1.97505547
172regulation of T cell tolerance induction (GO:0002664)1.97500205
173T cell costimulation (GO:0031295)1.97408604
174neutral lipid biosynthetic process (GO:0046460)1.96987866
175acylglycerol biosynthetic process (GO:0046463)1.96987866
176carnitine shuttle (GO:0006853)1.96863346
177positive regulation of fatty acid beta-oxidation (GO:0032000)1.96594408
178regulation of Rap GTPase activity (GO:0032317)1.95761298
179protein-lipid complex assembly (GO:0065005)1.94743507
180hormone catabolic process (GO:0042447)1.94407137
181positive regulation of p38MAPK cascade (GO:1900745)1.93877526
182L-glutamate transport (GO:0015813)1.93847700
183stress fiber assembly (GO:0043149)1.92212082
184localization within membrane (GO:0051668)1.92192603
185positive thymic T cell selection (GO:0045059)1.92159653
186skin morphogenesis (GO:0043589)1.91860123
187positive regulation of triglyceride metabolic process (GO:0090208)1.91523379
188regulation of triglyceride catabolic process (GO:0010896)1.91093495
189lymphocyte costimulation (GO:0031294)1.90950232
190regulation of lamellipodium organization (GO:1902743)1.89968563
191protein kinase C signaling (GO:0070528)1.89261999
192establishment of endothelial barrier (GO:0061028)1.89214773
193beta-amyloid metabolic process (GO:0050435)1.88828735
194negative regulation of neurotransmitter secretion (GO:0046929)1.88493811
195phospholipid translocation (GO:0045332)1.88332794
196lipid translocation (GO:0034204)1.88332794
197regulation of ARF GTPase activity (GO:0032312)1.85840228
198thymic T cell selection (GO:0045061)1.84336321
199COPII vesicle coating (GO:0048208)1.83963124

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela4.10121188
2E2F7_22180533_ChIP-Seq_HELA_Human3.24462385
3FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.07114604
4MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.93275211
5VDR_22108803_ChIP-Seq_LS180_Human2.87536745
6GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.77325199
7SALL1_21062744_ChIP-ChIP_HESCs_Human2.68863996
8IGF1R_20145208_ChIP-Seq_DFB_Human2.66822619
9IRF8_22096565_ChIP-ChIP_GC-B_Human2.50067419
10VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.47986377
11NOTCH1_21737748_ChIP-Seq_TLL_Human2.42014910
12TP63_17297297_ChIP-ChIP_HaCaT_Human2.37745005
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.36193052
14EWS_26573619_Chip-Seq_HEK293_Human2.34190277
15STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.33932258
16E2F4_17652178_ChIP-ChIP_JURKAT_Human2.28857236
17HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.27566364
18FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.24297504
19STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.23137148
20ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.22823168
21POU3F2_20337985_ChIP-ChIP_501MEL_Human2.19403016
22NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.12111365
23FUS_26573619_Chip-Seq_HEK293_Human2.10416096
24FLI1_27457419_Chip-Seq_LIVER_Mouse2.09086227
25ESR2_21235772_ChIP-Seq_MCF-7_Human2.01403837
26VDR_23849224_ChIP-Seq_CD4+_Human1.98199603
27RUNX_20019798_ChIP-Seq_JUKART_Human1.97180083
28GATA1_22025678_ChIP-Seq_K562_Human1.96215283
29LXR_22158963_ChIP-Seq_LIVER_Mouse1.93582006
30IRF1_19129219_ChIP-ChIP_H3396_Human1.93360047
31ER_23166858_ChIP-Seq_MCF-7_Human1.91589562
32HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.89298551
33EST1_17652178_ChIP-ChIP_JURKAT_Human1.88249957
34PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.84704935
35GABP_17652178_ChIP-ChIP_JURKAT_Human1.83581529
36SCL_19346495_ChIP-Seq_HPC-7_Human1.81562157
37DROSHA_22980978_ChIP-Seq_HELA_Human1.80224281
38FOXO3_23340844_ChIP-Seq_DLD1_Human1.79986335
39MYC_18940864_ChIP-ChIP_HL60_Human1.79250616
40TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.79146688
41TP63_19390658_ChIP-ChIP_HaCaT_Human1.78267840
42RXR_22158963_ChIP-Seq_LIVER_Mouse1.77056788
43ELK1_19687146_ChIP-ChIP_HELA_Human1.73933901
44ESR1_20079471_ChIP-ChIP_T-47D_Human1.73730861
45PPARA_22158963_ChIP-Seq_LIVER_Mouse1.73030744
46KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.71794482
47EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.69819313
48TRIM28_21343339_ChIP-Seq_HEK293_Human1.68815170
49CLOCK_20551151_ChIP-Seq_293T_Human1.62019572
50NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.60894342
51ZFP57_27257070_Chip-Seq_ESCs_Mouse1.60885407
52GBX2_23144817_ChIP-Seq_PC3_Human1.57462102
53FOXP3_21729870_ChIP-Seq_TREG_Human1.56128209
54CDX2_19796622_ChIP-Seq_MESCs_Mouse1.55661050
55ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.55625703
56CTBP1_25329375_ChIP-Seq_LNCAP_Human1.54616919
57RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.54393321
58CTBP2_25329375_ChIP-Seq_LNCAP_Human1.54200163
59KDM2B_26808549_Chip-Seq_DND41_Human1.51790187
60SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.50375759
61CDX2_20551321_ChIP-Seq_CACO-2_Human1.49849846
62KDM2B_26808549_Chip-Seq_SUP-B15_Human1.48961691
63CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.46969609
64P300_19829295_ChIP-Seq_ESCs_Human1.46666674
65ZNF217_24962896_ChIP-Seq_MCF-7_Human1.45187624
66TP53_22573176_ChIP-Seq_HFKS_Human1.43819265
67SOX2_27498859_Chip-Seq_STOMACH_Mouse1.43067251
68PCGF2_27294783_Chip-Seq_ESCs_Mouse1.42832583
69E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.42788875
70FOXA2_19822575_ChIP-Seq_HepG2_Human1.42522302
71PPAR_26484153_Chip-Seq_NCI-H1993_Human1.42199250
72GATA2_21666600_ChIP-Seq_HMVEC_Human1.41517971
73STAT3_23295773_ChIP-Seq_U87_Human1.39124632
74TAF15_26573619_Chip-Seq_HEK293_Human1.38845824
75EP300_21415370_ChIP-Seq_HL-1_Mouse1.37528526
76TBX20_22328084_ChIP-Seq_HEART_Mouse1.35021091
77TBX20_22080862_ChIP-Seq_HEART_Mouse1.35021091
78CBP_20019798_ChIP-Seq_JUKART_Human1.33366706
79IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.33366706
80SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.31797333
81* GATA3_26560356_Chip-Seq_TH2_Human1.31472205
82MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.29278381
83THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.27008479
84CTNNB1_20460455_ChIP-Seq_HCT116_Human1.25716475
85NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.25417355
86TCF4_23295773_ChIP-Seq_U87_Human1.24464749
87SOX2_20726797_ChIP-Seq_SW620_Human1.23494074
88SPI1_23127762_ChIP-Seq_K562_Human1.22623013
89GATA1_19941826_ChIP-Seq_K562_Human1.21659078
90POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.20956450
91TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20956450
92UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.20928323
93RXR_22108803_ChIP-Seq_LS180_Human1.20530306
94AR_21572438_ChIP-Seq_LNCaP_Human1.20376621
95TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.19488991
96AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.19399425
97EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.19375187
98* MYB_26560356_Chip-Seq_TH2_Human1.18805340
99FOXA1_27270436_Chip-Seq_PROSTATE_Human1.18211995
100FOXA1_25329375_ChIP-Seq_VCAP_Human1.18211995
101PADI4_21655091_ChIP-ChIP_MCF-7_Human1.17987450
102KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.17646869
103STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.17331935
104ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.16567798
105RACK7_27058665_Chip-Seq_MCF-7_Human1.16240541
106VDR_24787735_ChIP-Seq_THP-1_Human1.15946425
107FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.15623719
108ETS1_20019798_ChIP-Seq_JURKAT_Human1.15231651
109KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.15043238
110EGR1_19374776_ChIP-ChIP_THP-1_Human1.14755734
111PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.14730175
112P300_27058665_Chip-Seq_ZR-75-30cells_Human1.14461911
113FOXA1_21572438_ChIP-Seq_LNCaP_Human1.14411081
114ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.14379896
115GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13693049
116WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.13554851
117GATA3_21878914_ChIP-Seq_MCF-7_Human1.13237659
118LXR_22292898_ChIP-Seq_THP-1_Human1.12551110
119* GATA2_19941826_ChIP-Seq_K562_Human1.12547089
120SOX9_24532713_ChIP-Seq_HFSC_Mouse1.11624846
121IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.11560964
122IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.11436330
123WT1_25993318_ChIP-Seq_PODOCYTE_Human1.10837448
124KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.10677425
125BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.09560161
126NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.09432683
127* IRF8_27001747_Chip-Seq_BMDM_Mouse1.09308232
128BCAT_22108803_ChIP-Seq_LS180_Human1.08713848
129* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.08660264
130NANOG_19829295_ChIP-Seq_ESCs_Human1.08462226
131SOX2_19829295_ChIP-Seq_ESCs_Human1.08462226
132TP53_16413492_ChIP-PET_HCT116_Human1.08438506
133ELK3_25401928_ChIP-Seq_HUVEC_Human1.08310410
134SRF_21415370_ChIP-Seq_HL-1_Mouse1.08224603
135FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.08115414
136FLI1_21867929_ChIP-Seq_TH2_Mouse1.08092895
137RUNX1_27514584_Chip-Seq_MCF-7_Human1.08078343
138CIITA_25753668_ChIP-Seq_RAJI_Human1.08052537
139GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.07879329
140KDM2B_26808549_Chip-Seq_K562_Human1.07872380
141MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.07650131
142RARG_19884340_ChIP-ChIP_MEFs_Mouse1.07416500
143PRDM14_20953172_ChIP-Seq_ESCs_Human1.06957636
144RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.06933020
145SMAD_19615063_ChIP-ChIP_OVARY_Human1.06133163
146AR_20517297_ChIP-Seq_VCAP_Human1.06075587
147CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.05656576
148ELF1_17652178_ChIP-ChIP_JURKAT_Human1.05630237
149PCGF2_27294783_Chip-Seq_NPCs_Mouse1.05268826
150HOXB7_26014856_ChIP-Seq_BT474_Human1.05211226
151POU5F1_16153702_ChIP-ChIP_HESCs_Human1.04967776
152GATA4_25053715_ChIP-Seq_YYC3_Human1.04167602
153SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.04045690
154EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.03540779
155KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.03145984
156WT1_19549856_ChIP-ChIP_CCG9911_Human1.01996885
157EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.01937662
158* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.01507109
159TCF7_22412390_ChIP-Seq_EML_Mouse1.01196855
160HOXB4_20404135_ChIP-ChIP_EML_Mouse1.01190767
161E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.00965653
162NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.00923030
163Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.00853381
164KDM2B_26808549_Chip-Seq_JURKAT_Human1.00655882
165AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.00299829
166RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.00064291
167KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.99710757
168E2F1_21310950_ChIP-Seq_MCF-7_Human0.99014015
169TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.98912367
170PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.98642724
171EZH2_27294783_Chip-Seq_NPCs_Mouse0.98027657
172SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.97642006
173EGR1_23403033_ChIP-Seq_LIVER_Mouse0.97419496
174CJUN_26792858_Chip-Seq_BT549_Human0.97382150
175NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.96876107
176NRF2_20460467_ChIP-Seq_MEFs_Mouse0.96876107
177ESR1_21235772_ChIP-Seq_MCF-7_Human0.96583801
178NR3C1_21868756_ChIP-Seq_MCF10A_Human0.96575876
179SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.96227315
180GATA3_27048872_Chip-Seq_THYMUS_Human0.95982278
181MTF2_20144788_ChIP-Seq_MESCs_Mouse0.94942917
182AR_25329375_ChIP-Seq_VCAP_Human0.94713301
183RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.94199980
184TCF4_22108803_ChIP-Seq_LS180_Human0.94180165
185KLF5_20875108_ChIP-Seq_MESCs_Mouse0.93560388
186NFE2_27457419_Chip-Seq_LIVER_Mouse0.93338061
187SMAD4_21799915_ChIP-Seq_A2780_Human0.92952313
188VDR_24763502_ChIP-Seq_THP-1_Human0.92292395
189ETV2_25802403_ChIP-Seq_MESCs_Mouse0.92130766
190KDM5A_27292631_Chip-Seq_BREAST_Human0.92100599
191CRX_20693478_ChIP-Seq_RETINA_Mouse0.92055256
192GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.92040121
193CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.91800661
194STAT6_21828071_ChIP-Seq_BEAS2B_Human0.91428173
195TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.91354428
196MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.90848392
197* MAF_26560356_Chip-Seq_TH1_Human0.90815305
198NCOR_22424771_ChIP-Seq_293T_Human0.90349854
199TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.88138490

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication4.19439343
2MP0005360_urolithiasis3.73091207
3MP0003300_gastrointestinal_ulcer3.57695488
4MP0008877_abnormal_DNA_methylation3.48707565
5MP0000569_abnormal_digit_pigmentation3.17433334
6MP0001666_abnormal_nutrient_absorption2.95480897
7MP0004185_abnormal_adipocyte_glucose2.79184729
8MP0010234_abnormal_vibrissa_follicle2.58548005
9MP0008058_abnormal_DNA_repair2.58454757
10MP0000920_abnormal_myelination2.53959669
11MP0003690_abnormal_glial_cell2.50958570
12MP0010094_abnormal_chromosome_stability2.43748008
13MP0003705_abnormal_hypodermis_morpholog2.42790022
14MP0003646_muscle_fatigue2.34885151
15MP0005174_abnormal_tail_pigmentation2.24415813
16MP0009840_abnormal_foam_cell2.18398711
17MP0002396_abnormal_hematopoietic_system2.15854549
18MP0008438_abnormal_cutaneous_collagen2.15107702
19MP0003252_abnormal_bile_duct2.12614114
20MP0003195_calcinosis2.08975329
21MP0002009_preneoplasia1.96671576
22MP0003890_abnormal_embryonic-extraembry1.92753105
23MP0001986_abnormal_taste_sensitivity1.88821165
24MP0003191_abnormal_cellular_cholesterol1.87781618
25MP0009384_cardiac_valve_regurgitation1.87234475
26MP0006292_abnormal_olfactory_placode1.86802463
27MP0005666_abnormal_adipose_tissue1.81605368
28MP0003693_abnormal_embryo_hatching1.81551692
29MP0000427_abnormal_hair_cycle1.79374006
30MP0003329_amyloid_beta_deposits1.78587596
31MP0005058_abnormal_lysosome_morphology1.77923224
32MP0003172_abnormal_lysosome_physiology1.77902388
33MP0008872_abnormal_physiological_respon1.77120618
34MP0008995_early_reproductive_senescence1.74612227
35MP0000462_abnormal_digestive_system1.74570613
36MP0003787_abnormal_imprinting1.74151946
37MP0003866_abnormal_defecation1.72499550
38MP0002102_abnormal_ear_morphology1.65128197
39MP0000372_irregular_coat_pigmentation1.64835719
40MP0003183_abnormal_peptide_metabolism1.62179235
41MP0004947_skin_inflammation1.61701629
42MP0005085_abnormal_gallbladder_physiolo1.61634079
43MP0006072_abnormal_retinal_apoptosis1.61055374
44MP0003045_fibrosis1.60219482
45MP0004130_abnormal_muscle_cell1.58076462
46MP0003566_abnormal_cell_adhesion1.54202148
47MP0003718_maternal_effect1.53586520
48MP0005397_hematopoietic_system_phenotyp1.51324561
49MP0001545_abnormal_hematopoietic_system1.51324561
50MP0005075_abnormal_melanosome_morpholog1.51144309
51MP0005375_adipose_tissue_phenotype1.49957868
52MP0000015_abnormal_ear_pigmentation1.49544442
53MP0002139_abnormal_hepatobiliary_system1.47027262
54MP0000604_amyloidosis1.45929392
55MP0005645_abnormal_hypothalamus_physiol1.45875816
56MP0005551_abnormal_eye_electrophysiolog1.45343753
57MP0002095_abnormal_skin_pigmentation1.45223154
58MP0002089_abnormal_postnatal_growth/wei1.44564536
59MP0002796_impaired_skin_barrier1.43741591
60MP0003453_abnormal_keratinocyte_physiol1.43558101
61MP0009780_abnormal_chondrocyte_physiolo1.42163769
62MP0003868_abnormal_feces_composition1.38861066
63MP0001835_abnormal_antigen_presentation1.38697295
64MP0001873_stomach_inflammation1.38497159
65MP0010329_abnormal_lipoprotein_level1.38430933
66MP0003303_peritoneal_inflammation1.37472429
67MP0008961_abnormal_basal_metabolism1.36072537
68MP0006082_CNS_inflammation1.33232414
69MP0004510_myositis1.33217221
70MP0010678_abnormal_skin_adnexa1.32120834
71MP0004808_abnormal_hematopoietic_stem1.29737327
72MP0002118_abnormal_lipid_homeostasis1.29645500
73MP0003091_abnormal_cell_migration1.28982562
74MP0001800_abnormal_humoral_immune1.28424887
75MP0003786_premature_aging1.27740430
76MP0004142_abnormal_muscle_tone1.26915225
77MP0010307_abnormal_tumor_latency1.26294344
78MP0005646_abnormal_pituitary_gland1.25401526
79MP0000747_muscle_weakness1.24178162
80MP0003763_abnormal_thymus_physiology1.23383914
81MP0001299_abnormal_eye_distance/1.23241614
82MP0005365_abnormal_bile_salt1.18116884
83MP0002163_abnormal_gland_morphology1.16873057
84MP0000003_abnormal_adipose_tissue1.15592397
85MP0010155_abnormal_intestine_physiology1.15127369
86MP0002938_white_spotting1.14773902
87MP0005389_reproductive_system_phenotype1.13994486
88MP0009643_abnormal_urine_homeostasis1.13838470
89MP0002933_joint_inflammation1.12831984
90MP0000689_abnormal_spleen_morphology1.10867657
91MP0004133_heterotaxia1.10726105
92MP0000631_abnormal_neuroendocrine_gland1.09430688
93MP0005623_abnormal_meninges_morphology1.08781444
94MP0001919_abnormal_reproductive_system1.08775447
95MP0002160_abnormal_reproductive_system1.07978338
96MP0001968_abnormal_touch/_nociception1.07592342
97MP0005310_abnormal_salivary_gland1.07564669
98MP0005167_abnormal_blood-brain_barrier1.07536695
99MP0002398_abnormal_bone_marrow1.07458925
100MP0001929_abnormal_gametogenesis1.05434434
101MP0003943_abnormal_hepatobiliary_system1.05345582
102MP0009697_abnormal_copulation1.03886737
103MP0005220_abnormal_exocrine_pancreas1.02687588
104MP0005451_abnormal_body_composition1.02150263
105MP0001958_emphysema1.01792847
106MP0003111_abnormal_nucleus_morphology1.00660537
107MP0002998_abnormal_bone_remodeling1.00373340
108MP0005253_abnormal_eye_physiology0.99844209
109MP0009764_decreased_sensitivity_to0.99816635
110MP0004264_abnormal_extraembryonic_tissu0.99319330
111MP0003077_abnormal_cell_cycle0.96863345
112MP0005084_abnormal_gallbladder_morpholo0.96797600
113MP0002166_altered_tumor_susceptibility0.96762803
114MP0005671_abnormal_response_to0.96125638
115MP0005023_abnormal_wound_healing0.95952674
116MP0005584_abnormal_enzyme/coenzyme_acti0.94783760
117MP0000609_abnormal_liver_physiology0.94727776
118MP0004043_abnormal_pH_regulation0.93914506
119MP0004272_abnormal_basement_membrane0.93516792
120MP0002210_abnormal_sex_determination0.93086358
121MP0002971_abnormal_brown_adipose0.93080991
122MP0000703_abnormal_thymus_morphology0.92694610
123MP0002876_abnormal_thyroid_physiology0.92376930
124MP0004134_abnormal_chest_morphology0.91515663
125MP0002822_catalepsy0.91503233
126MP0009278_abnormal_bone_marrow0.91370490
127MP0004885_abnormal_endolymph0.89852561
128MP0002928_abnormal_bile_duct0.88928200
129MP0000685_abnormal_immune_system0.88720426
130MP0004087_abnormal_muscle_fiber0.88400643
131MP0005275_abnormal_skin_tensile0.88320282
132MP0001790_abnormal_immune_system0.87494230
133MP0005387_immune_system_phenotype0.87494230
134MP0003950_abnormal_plasma_membrane0.86981843
135MP0005381_digestive/alimentary_phenotyp0.86855665
136MP0002723_abnormal_immune_serum0.86532371
137MP0000733_abnormal_muscle_development0.86211999
138MP0002420_abnormal_adaptive_immunity0.85941383
139MP0003634_abnormal_glial_cell0.85483919
140MP0005332_abnormal_amino_acid0.84782065
141MP0000716_abnormal_immune_system0.84629066
142MP0002452_abnormal_antigen_presenting0.84199409
143MP0002722_abnormal_immune_system0.83744387
144MP0003698_abnormal_male_reproductive0.83469069
145MP0008875_abnormal_xenobiotic_pharmacok0.83456402
146MP0001819_abnormal_immune_cell0.83440504
147MP0002138_abnormal_hepatobiliary_system0.82784205
148MP0001119_abnormal_female_reproductive0.81930833
149MP0001145_abnormal_male_reproductive0.81922603
150MP0001851_eye_inflammation0.81681992
151MP0002168_other_aberrant_phenotype0.81670727
152MP0002896_abnormal_bone_mineralization0.81658477
153MP0001293_anophthalmia0.81312210
154MP0002295_abnormal_pulmonary_circulatio0.81053318
155MP0000653_abnormal_sex_gland0.80794493
156MP0005266_abnormal_metabolism0.80702712
157MP0008007_abnormal_cellular_replicative0.80217737
158MP0000013_abnormal_adipose_tissue0.79891849
159MP0005647_abnormal_sex_gland0.79295794
160MP0004084_abnormal_cardiac_muscle0.79181892
161MP0002090_abnormal_vision0.79074331
162MP0003075_altered_response_to0.78940689
163MP0001765_abnormal_ion_homeostasis0.78354657
164MP0002019_abnormal_tumor_incidence0.78039674
165MP0005083_abnormal_biliary_tract0.77751509
166MP0006054_spinal_hemorrhage0.77289994
167MP0000383_abnormal_hair_follicle0.76886739
168MP0003806_abnormal_nucleotide_metabolis0.76615964
169MP0002736_abnormal_nociception_after0.76487937
170MP0005464_abnormal_platelet_physiology0.76119958
171MP0000467_abnormal_esophagus_morphology0.76077885
172MP0002429_abnormal_blood_cell0.75259978
173MP0001533_abnormal_skeleton_physiology0.74948184
174MP0001485_abnormal_pinna_reflex0.73964435
175MP0010352_gastrointestinal_tract_polyps0.73796219
176MP0000516_abnormal_urinary_system0.72630788
177MP0005367_renal/urinary_system_phenotyp0.72630788
178MP0004957_abnormal_blastocyst_morpholog0.72067095
179MP0000470_abnormal_stomach_morphology0.72011896
180MP0002006_tumorigenesis0.71740137
181MP0008775_abnormal_heart_ventricle0.71702675
182MP0006276_abnormal_autonomic_nervous0.71580223
183MP0004147_increased_porphyrin_level0.71382221
184MP0004145_abnormal_muscle_electrophysio0.70595566
185MP0006035_abnormal_mitochondrial_morpho0.69672399
186MP0003283_abnormal_digestive_organ0.69467352
187MP0005670_abnormal_white_adipose0.68443808
188MP0006138_congestive_heart_failure0.67948519

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)3.91077579
2Pancreatic fibrosis (HP:0100732)3.40550046
3Type II lissencephaly (HP:0007260)3.29293634
4Abnormality of midbrain morphology (HP:0002418)3.26447991
5Molar tooth sign on MRI (HP:0002419)3.26447991
6Cerebral aneurysm (HP:0004944)3.26031338
7Congenital stationary night blindness (HP:0007642)3.19160401
8Aortic aneurysm (HP:0004942)3.05887641
9Ileus (HP:0002595)3.02808180
10Abnormality of the renal cortex (HP:0011035)3.01113456
11Arterial tortuosity (HP:0005116)2.96630029
12True hermaphroditism (HP:0010459)2.92870561
13Nephronophthisis (HP:0000090)2.89440079
14Protruding tongue (HP:0010808)2.88646271
15Birth length less than 3rd percentile (HP:0003561)2.86297254
16Panhypogammaglobulinemia (HP:0003139)2.84682120
17Cerebellar dysplasia (HP:0007033)2.83047384
18Thick nail (HP:0001805)2.75749706
19Aplasia/Hypoplasia of the uvula (HP:0010293)2.75371561
20Abnormality of B cell number (HP:0010975)2.75116602
21Chronic hepatic failure (HP:0100626)2.74818398
22Broad metatarsal (HP:0001783)2.74170317
23Attenuation of retinal blood vessels (HP:0007843)2.73938461
24Neurofibrillary tangles (HP:0002185)2.73671890
25Aortic dissection (HP:0002647)2.73176263
26Right ventricular cardiomyopathy (HP:0011663)2.69194192
27Abnormality of the renal medulla (HP:0100957)2.68955182
28Vascular tortuosity (HP:0004948)2.67467241
29Chromosomal breakage induced by crosslinking agents (HP:0003221)2.65261535
30Abnormality of the pons (HP:0007361)2.64464868
31Dysostosis multiplex (HP:0000943)2.61355823
32Stomach cancer (HP:0012126)2.61099156
33Hypoplasia of the pons (HP:0012110)2.60393987
34Abolished electroretinogram (ERG) (HP:0000550)2.58597798
35Hyporeflexia of lower limbs (HP:0002600)2.55554565
36Genetic anticipation (HP:0003743)2.54854838
37Chromsome breakage (HP:0040012)2.53810910
38Hemorrhage of the eye (HP:0011885)2.53070390
39Increased IgE level (HP:0003212)2.52870363
40Progressive inability to walk (HP:0002505)2.45873323
41Patellar aplasia (HP:0006443)2.42543598
42Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.41868085
43Abnormality of alanine metabolism (HP:0010916)2.41868085
44Hyperalaninemia (HP:0003348)2.41868085
45Abnormality of chromosome stability (HP:0003220)2.39657428
46Clubbing of toes (HP:0100760)2.39648826
47Hyperventilation (HP:0002883)2.38882212
48Acute lymphatic leukemia (HP:0006721)2.38488807
49Intention tremor (HP:0002080)2.37369537
50Mucopolysacchariduria (HP:0008155)2.35909531
51Urinary glycosaminoglycan excretion (HP:0003541)2.35909531
52Neoplasm of the adrenal cortex (HP:0100641)2.35135924
53Inability to walk (HP:0002540)2.34211792
54Colon cancer (HP:0003003)2.31817225
55Cerebral inclusion bodies (HP:0100314)2.31805588
56Renal cortical cysts (HP:0000803)2.30600265
57Clumsiness (HP:0002312)2.28039034
58Decreased electroretinogram (ERG) amplitude (HP:0000654)2.26794143
59Cystic liver disease (HP:0006706)2.23676450
60Increased cerebral lipofuscin (HP:0011813)2.23331397
61Aplasia/Hypoplasia of the patella (HP:0006498)2.21950169
62Abnormal delayed hypersensitivity skin test (HP:0002963)2.21693444
63Difficulty running (HP:0009046)2.20585780
64Abnormality of the ileum (HP:0001549)2.19458986
65T lymphocytopenia (HP:0005403)2.18904684
66Xanthomatosis (HP:0000991)2.15368027
67Tubular atrophy (HP:0000092)2.15297193
68Premature rupture of membranes (HP:0001788)2.14655789
69Abnormal biliary tract physiology (HP:0012439)2.14456404
70Bile duct proliferation (HP:0001408)2.14456404
71Dynein arm defect of respiratory motile cilia (HP:0012255)2.14110012
72Absent/shortened dynein arms (HP:0200106)2.14110012
73Meckel diverticulum (HP:0002245)2.14008203
74Partial agenesis of the corpus callosum (HP:0001338)2.13985361
75Aneurysm (HP:0002617)2.13780319
76Abnormal number of erythroid precursors (HP:0012131)2.12753299
77Gaze-evoked nystagmus (HP:0000640)2.12529549
78Deep venous thrombosis (HP:0002625)2.11131619
79B lymphocytopenia (HP:0010976)2.10816701
80Protuberant abdomen (HP:0001538)2.09449927
81Abnormality of T cell number (HP:0011839)2.09381672
82Abnormality of the renal collecting system (HP:0004742)2.08364057
83Abnormality of mucopolysaccharide metabolism (HP:0011020)2.07362917
84Abnormality of polysaccharide metabolism (HP:0011012)2.07362917
85Abnormality of glycosaminoglycan metabolism (HP:0004371)2.07362917
86Abnormality of glutamine family amino acid metabolism (HP:0010902)2.07164595
87Sloping forehead (HP:0000340)2.05141136
88Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.04616491
89Degeneration of the lateral corticospinal tracts (HP:0002314)2.04616491
90Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.04512539
91Increased circulating renin level (HP:0000848)2.04286787
92Lissencephaly (HP:0001339)2.03311839
93Abnormality of DNA repair (HP:0003254)2.03250064
94Congenital hepatic fibrosis (HP:0002612)2.03102736
95Flat acetabular roof (HP:0003180)2.02919732
96Abnormality of proline metabolism (HP:0010907)2.02227623
97Hydroxyprolinuria (HP:0003080)2.02227623
98Mitral valve prolapse (HP:0001634)2.01300575
99Myoglobinuria (HP:0002913)2.00981332
100Duplicated collecting system (HP:0000081)1.99403233
101Abnormal rod and cone electroretinograms (HP:0008323)1.98959008
102Epiphyseal dysplasia (HP:0002656)1.98121906
103Bilateral microphthalmos (HP:0007633)1.97995524
104Aplasia/Hypoplasia of the spleen (HP:0010451)1.95839190
105Pendular nystagmus (HP:0012043)1.95755588
106Ectopic kidney (HP:0000086)1.93329292
107Metabolic alkalosis (HP:0200114)1.92852159
108Abnormality of the carotid arteries (HP:0005344)1.92231620
109Eosinophilia (HP:0001880)1.92212817
110Aplasia/Hypoplasia of the tibia (HP:0005772)1.91789620
111Chronic diarrhea (HP:0002028)1.91400597
112Chronic otitis media (HP:0000389)1.90939088
113Thyroiditis (HP:0100646)1.90278718
114Abnormality of the preputium (HP:0100587)1.89402096
115Fair hair (HP:0002286)1.89112223
116Autoimmune thrombocytopenia (HP:0001973)1.88145432
117Disproportionate tall stature (HP:0001519)1.87929096
118Protrusio acetabuli (HP:0003179)1.86416266
119Severe combined immunodeficiency (HP:0004430)1.85475265
120Furrowed tongue (HP:0000221)1.85406796
121Interstitial pulmonary disease (HP:0006530)1.85140615
122Absent rod-and cone-mediated responses on ERG (HP:0007688)1.84032094
123Medial flaring of the eyebrow (HP:0010747)1.83682860
124Asplenia (HP:0001746)1.83634836
125* Scapular winging (HP:0003691)1.83278870
126Decreased central vision (HP:0007663)1.81579144
127Increased neuronal autofluorescent lipopigment (HP:0002074)1.81376948
128Hypoplastic ischia (HP:0003175)1.81339446
129Myelodysplasia (HP:0002863)1.81202215
130Abnormality of cells of the erythroid lineage (HP:0012130)1.80857509
131Ovoid vertebral bodies (HP:0003300)1.80601917
132Polydipsia (HP:0001959)1.80409292
133Abnormal drinking behavior (HP:0030082)1.80409292
134Abnormality of the ischium (HP:0003174)1.79792642
135Back pain (HP:0003418)1.79481846
136Absent thumb (HP:0009777)1.79384525
137Abdominal distention (HP:0003270)1.78913536
138Duodenal stenosis (HP:0100867)1.78300838
139Small intestinal stenosis (HP:0012848)1.78300838
140Stomatitis (HP:0010280)1.78233807
141Sclerocornea (HP:0000647)1.77611512
142Malnutrition (HP:0004395)1.76845894
143Achilles tendon contracture (HP:0001771)1.76524134
144Onion bulb formation (HP:0003383)1.75009818
145Abnormality of the Achilles tendon (HP:0005109)1.74235448
146Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.74139757
147Visceral angiomatosis (HP:0100761)1.73511177
148Abnormality of T cell physiology (HP:0011840)1.73441063
149Chronic mucocutaneous candidiasis (HP:0002728)1.73102524
150Recurrent cutaneous fungal infections (HP:0011370)1.73102524
151Dilatation of the ascending aorta (HP:0005111)1.72969148
152Round ear (HP:0100830)1.72526403
153Retinal dysplasia (HP:0007973)1.72438687
154Ketoacidosis (HP:0001993)1.72319257
155Distal upper limb amyotrophy (HP:0007149)1.72250786
156Upper limb amyotrophy (HP:0009129)1.72250786
157Focal segmental glomerulosclerosis (HP:0000097)1.71946740
158Hemangiomatosis (HP:0007461)1.71543530
159Loss of speech (HP:0002371)1.71223629
160IgG deficiency (HP:0004315)1.71110375
161Frequent falls (HP:0002359)1.70205514
162Concave nail (HP:0001598)1.70084196
163Supranuclear gaze palsy (HP:0000605)1.69743781
164Ulnar bowing (HP:0003031)1.69317705
165Sensory axonal neuropathy (HP:0003390)1.69132128
166Acute myeloid leukemia (HP:0004808)1.68298489
167Aplasia/Hypoplasia of the tongue (HP:0010295)1.68085328
168Abnormal respiratory epithelium morphology (HP:0012253)1.68032020
169Abnormal respiratory motile cilium morphology (HP:0005938)1.68032020
170Ventricular tachycardia (HP:0004756)1.67596139
171Hypoplastic iliac wings (HP:0002866)1.67189172
172Abnormality of the labia minora (HP:0012880)1.66861934
173Blue sclerae (HP:0000592)1.66192523
174Anencephaly (HP:0002323)1.65426788
175Scanning speech (HP:0002168)1.64890567
176Thin bony cortex (HP:0002753)1.64288366
177Abnormality of oral frenula (HP:0000190)1.64031156
178Abnormal foot bone ossification (HP:0010675)1.63858154
179Hyperlipoproteinemia (HP:0010980)1.61310630
180Striae distensae (HP:0001065)1.61074906
181Hypokalemic alkalosis (HP:0001949)1.58853752
182Axonal loss (HP:0003447)1.58629775
183Verrucae (HP:0200043)1.58201062
184Papilloma (HP:0012740)1.58201062
185Glomerulosclerosis (HP:0000096)1.57966066
186Esophageal varix (HP:0002040)1.57794262
187Abnormality of eosinophils (HP:0001879)1.57195929
188Increased connective tissue (HP:0009025)1.56729259
189Abnormal cartilage morphology (HP:0002763)1.56449682
190Centrally nucleated skeletal muscle fibers (HP:0003687)1.54995617
191Exercise-induced myalgia (HP:0003738)1.54508356
192Asymmetric septal hypertrophy (HP:0001670)1.54452375
193Muscle fiber splitting (HP:0003555)1.54332368
194Cupped ribs (HP:0000887)1.54321424
195Gastrointestinal dysmotility (HP:0002579)1.53883998
196Abnormality of the lumbar spine (HP:0100712)1.53841791
197Autoimmune hemolytic anemia (HP:0001890)1.53591524
198Cardiomegaly (HP:0001640)1.52799667
199Stridor (HP:0010307)1.52320398

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHB13.75302761
2BMPR1B3.52862573
3ZAK3.50043582
4TRIB33.22641672
5ACVR1B3.21254302
6TAOK32.99671301
7TYRO32.82353340
8PKN22.64519327
9TLK12.50299751
10ADRBK22.40973034
11STK392.37231455
12FGFR42.13609335
13PLK42.02646390
14FES2.01041401
15TEC2.00395195
16LMTK21.96765373
17DMPK1.93290182
18MKNK21.88617074
19TGFBR11.86008839
20ICK1.83975591
21ERN11.82997700
22PTK61.77624645
23SIK11.75887353
24TTN1.75038075
25JAK11.72014927
26MAP4K21.67899326
27INSRR1.66844603
28FGFR21.66183232
29TIE11.64689519
30GRK11.60545592
31BRSK21.59070851
32PDGFRB1.56771446
33OXSR11.51720253
34TGFBR21.49128746
35MAP3K21.48169226
36CSK1.46890416
37MKNK11.45044405
38ITK1.44568379
39MAP4K11.43869361
40STK101.42112363
41CDC71.37945113
42WNK31.37723287
43WNK41.29088004
44TAF11.28578405
45FRK1.28290777
46FGFR31.26310629
47PDGFRA1.19947728
48PRKCH1.17827761
49MST41.15050087
50ATR1.14980252
51MAP3K71.14768218
52EPHA31.14211183
53PTK21.13402579
54LRRK21.13056580
55CHEK21.12364079
56PDPK11.11971707
57KSR21.11653429
58RIPK11.11521065
59TYK21.10483286
60RET1.09553880
61KIT1.08668799
62EIF2AK31.07841566
63CDK81.05563130
64PINK11.04173186
65MST1R1.02555732
66MAP3K101.01696095
67PNCK1.00453843
68VRK11.00110490
69ROCK20.99429588
70PDK10.98661037
71BTK0.98621933
72PRKCQ0.97153164
73MAP3K40.97079743
74IKBKB0.96583671
75MET0.96243881
76TBK10.96056376
77ROCK10.91479738
78WNK10.88872693
79MAPK130.88235236
80SRPK10.88111466
81MAP3K130.87898036
82STK30.86315642
83TNIK0.86190671
84PIM10.85954640
85PKN10.85676813
86EEF2K0.84495893
87KDR0.84363958
88ADRBK10.83802351
89DDR20.82127899
90JAK30.82078477
91PAK30.81817499
92EPHA40.81414270
93CAMK1G0.81342137
94JAK20.80478566
95CAMK1D0.80448271
96BRD40.80301058
97WEE10.80007487
98CAMKK20.76591374
99SYK0.74867513
100PRKD10.74710362
101PRPF4B0.74174315
102PAK40.72637963
103TAOK10.72026451
104RPS6KA50.71865829
105IKBKE0.71039132
106FYN0.70890752
107LATS10.70752160
108HCK0.70383961
109INSR0.70325726
110BMX0.69809564
111CSF1R0.69635847
112IRAK10.68819557
113MAP2K20.68388196
114ATM0.68181560
115PAK20.66802830
116STK38L0.66500848
117GRK60.66373547
118CHUK0.65630415
119MARK30.65157881
120NLK0.65045490
121NEK20.64968018
122MELK0.64715027
123LCK0.64190745
124PLK30.64187167
125NUAK10.60865252
126PAK60.60094074
127DAPK20.59741866
128MATK0.59563647
129MAP3K10.58821941
130FER0.58785523
131FGFR10.58583014
132PRKG20.57494425
133RPS6KB20.55511016
134MAPKAPK50.55222169
135PLK10.55176186
136PRKAA20.54334563
137PASK0.53212105
138CDK40.53143514
139ZAP700.53008224
140CAMKK10.51819362
141NTRK10.51425039
142EIF2AK20.50827875
143PRKD20.50699550
144LYN0.49574354
145TRPM70.49234012
146PIK3CG0.49035294
147MAP2K60.48867556
148SRC0.48731319
149GSK3A0.48337282
150CDC42BPA0.48239808
151MARK20.47979215
152CDK30.46317258
153TTK0.45627882
154MAP3K140.44931181
155IRAK40.44704396
156FGR0.43919104
157STK110.42833408
158PIK3CA0.42465274
159CLK10.42062208
160RPS6KA60.40933738
161NEK90.39549138
162AKT30.39537121
163FLT30.39076123
164CASK0.38996306
165TXK0.37493461
166TNK20.37124693
167CHEK10.35134241
168PRKCE0.34978810
169PLK20.34242971
170MAP2K70.33897467
171CSNK1D0.32006061
172RPS6KB10.31283216
173DYRK20.30535402
174CSNK1G10.28920457

Predicted pathways (KEGG)

RankGene SetZ-score
1Homologous recombination_Homo sapiens_hsa034403.50156833
2Fanconi anemia pathway_Homo sapiens_hsa034603.08359399
3Selenocompound metabolism_Homo sapiens_hsa004502.53970608
4Non-homologous end-joining_Homo sapiens_hsa034502.37608757
5One carbon pool by folate_Homo sapiens_hsa006702.30191711
6Basal transcription factors_Homo sapiens_hsa030222.18109191
7alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.16688013
8Intestinal immune network for IgA production_Homo sapiens_hsa046722.16380306
9Asthma_Homo sapiens_hsa053102.14420334
10Nitrogen metabolism_Homo sapiens_hsa009102.08599910
11Linoleic acid metabolism_Homo sapiens_hsa005912.07512576
12RNA polymerase_Homo sapiens_hsa030202.05189795
13Phototransduction_Homo sapiens_hsa047441.93816323
14Fat digestion and absorption_Homo sapiens_hsa049751.89651659
15Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.80758420
16Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.74486924
17DNA replication_Homo sapiens_hsa030301.71537180
18RNA degradation_Homo sapiens_hsa030181.69297619
19Fatty acid metabolism_Homo sapiens_hsa012121.65888498
20Fatty acid degradation_Homo sapiens_hsa000711.60573516
21Mismatch repair_Homo sapiens_hsa034301.53568320
22Fatty acid biosynthesis_Homo sapiens_hsa000611.52412784
23Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.49893483
24Graft-versus-host disease_Homo sapiens_hsa053321.49207894
25Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.46950936
26Sulfur metabolism_Homo sapiens_hsa009201.46726626
27Nucleotide excision repair_Homo sapiens_hsa034201.45708899
28PPAR signaling pathway_Homo sapiens_hsa033201.42975866
29Carbohydrate digestion and absorption_Homo sapiens_hsa049731.41016474
30Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.38409459
31Allograft rejection_Homo sapiens_hsa053301.38212393
32Autoimmune thyroid disease_Homo sapiens_hsa053201.33523052
33Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.33460211
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.32007377
35Systemic lupus erythematosus_Homo sapiens_hsa053221.30403333
36RNA transport_Homo sapiens_hsa030131.26442502
37Bile secretion_Homo sapiens_hsa049761.24179890
38Steroid biosynthesis_Homo sapiens_hsa001001.23819156
39Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.21608675
40Maturity onset diabetes of the young_Homo sapiens_hsa049501.20823083
41T cell receptor signaling pathway_Homo sapiens_hsa046601.19883867
42Base excision repair_Homo sapiens_hsa034101.19739777
43Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.18539853
44Leukocyte transendothelial migration_Homo sapiens_hsa046701.16829310
45Mineral absorption_Homo sapiens_hsa049781.16143033
46Protein digestion and absorption_Homo sapiens_hsa049741.16056399
47Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.15902382
48Fatty acid elongation_Homo sapiens_hsa000621.14688994
49Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.12824943
50Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.10789184
51Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.09917387
52Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.08502991
53Other glycan degradation_Homo sapiens_hsa005111.07831015
54Type I diabetes mellitus_Homo sapiens_hsa049401.06978743
55Olfactory transduction_Homo sapiens_hsa047401.05557335
56Propanoate metabolism_Homo sapiens_hsa006401.05105677
57Caffeine metabolism_Homo sapiens_hsa002321.04577192
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.03228048
59Pyrimidine metabolism_Homo sapiens_hsa002401.03041709
60Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.02369980
61Adipocytokine signaling pathway_Homo sapiens_hsa049201.02352470
62Focal adhesion_Homo sapiens_hsa045101.01951445
63Pancreatic cancer_Homo sapiens_hsa052121.01596782
64Transcriptional misregulation in cancer_Homo sapiens_hsa052021.00345903
65Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.00085175
66NOD-like receptor signaling pathway_Homo sapiens_hsa046210.98800275
67Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.98482337
68Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.97813813
69Ether lipid metabolism_Homo sapiens_hsa005650.96593408
70Renal cell carcinoma_Homo sapiens_hsa052110.94362947
71B cell receptor signaling pathway_Homo sapiens_hsa046620.93254672
72Butanoate metabolism_Homo sapiens_hsa006500.92920943
73Glycerolipid metabolism_Homo sapiens_hsa005610.91404984
74Primary immunodeficiency_Homo sapiens_hsa053400.90959749
75Viral myocarditis_Homo sapiens_hsa054160.90516221
76VEGF signaling pathway_Homo sapiens_hsa043700.90230149
77Platelet activation_Homo sapiens_hsa046110.90056770
78Osteoclast differentiation_Homo sapiens_hsa043800.90054199
79Purine metabolism_Homo sapiens_hsa002300.90007571
80Sphingolipid metabolism_Homo sapiens_hsa006000.89993512
81Insulin resistance_Homo sapiens_hsa049310.89591999
82Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.89419517
83Hematopoietic cell lineage_Homo sapiens_hsa046400.88409325
84Taste transduction_Homo sapiens_hsa047420.88261127
85Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.88122441
86Chronic myeloid leukemia_Homo sapiens_hsa052200.88121979
87Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.87168381
88Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.85510395
89Adherens junction_Homo sapiens_hsa045200.84892143
90ABC transporters_Homo sapiens_hsa020100.83701268
91Type II diabetes mellitus_Homo sapiens_hsa049300.83065917
92Cell cycle_Homo sapiens_hsa041100.82650375
93Jak-STAT signaling pathway_Homo sapiens_hsa046300.82473871
94Phospholipase D signaling pathway_Homo sapiens_hsa040720.81371857
95Vitamin digestion and absorption_Homo sapiens_hsa049770.81186817
96* Lysosome_Homo sapiens_hsa041420.80644550
97Choline metabolism in cancer_Homo sapiens_hsa052310.79833612
98Pancreatic secretion_Homo sapiens_hsa049720.79699361
99Tryptophan metabolism_Homo sapiens_hsa003800.78299484
100Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.77754054
101ECM-receptor interaction_Homo sapiens_hsa045120.76998156
102p53 signaling pathway_Homo sapiens_hsa041150.76528094
103Glycosaminoglycan degradation_Homo sapiens_hsa005310.76120455
104Peroxisome_Homo sapiens_hsa041460.75570267
105Sphingolipid signaling pathway_Homo sapiens_hsa040710.75147242
106Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.75132909
107RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.74295786
108Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.74180736
109Spliceosome_Homo sapiens_hsa030400.73758508
110Regulation of actin cytoskeleton_Homo sapiens_hsa048100.73523157
111Phosphatidylinositol signaling system_Homo sapiens_hsa040700.73512315
112Gastric acid secretion_Homo sapiens_hsa049710.73502662
113Axon guidance_Homo sapiens_hsa043600.73246290
114Steroid hormone biosynthesis_Homo sapiens_hsa001400.73169662
115Starch and sucrose metabolism_Homo sapiens_hsa005000.73106592
116Dorso-ventral axis formation_Homo sapiens_hsa043200.72586159
117Protein export_Homo sapiens_hsa030600.71674122
118Arachidonic acid metabolism_Homo sapiens_hsa005900.71572277
1192-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.71388895
120Renin-angiotensin system_Homo sapiens_hsa046140.71041810
121Antigen processing and presentation_Homo sapiens_hsa046120.70627201
122Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.70069440
123Proteoglycans in cancer_Homo sapiens_hsa052050.68134751
124Toxoplasmosis_Homo sapiens_hsa051450.67546318
125Endocytosis_Homo sapiens_hsa041440.66880689
126Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.64612556
127Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.64452214
128Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.63493431
129Regulation of autophagy_Homo sapiens_hsa041400.63294734
130Thyroid hormone synthesis_Homo sapiens_hsa049180.61686120
131Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.61096376
132Arginine biosynthesis_Homo sapiens_hsa002200.60775138
133Non-small cell lung cancer_Homo sapiens_hsa052230.60743764
134Chemokine signaling pathway_Homo sapiens_hsa040620.60616885
135Herpes simplex infection_Homo sapiens_hsa051680.60466602
136Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.59247307
137Endometrial cancer_Homo sapiens_hsa052130.58814463
138mRNA surveillance pathway_Homo sapiens_hsa030150.58699375
139SNARE interactions in vesicular transport_Homo sapiens_hsa041300.58405635
140Lysine degradation_Homo sapiens_hsa003100.57588655
141Amoebiasis_Homo sapiens_hsa051460.57443457
142NF-kappa B signaling pathway_Homo sapiens_hsa040640.56989015
143Dilated cardiomyopathy_Homo sapiens_hsa054140.56603035
144Glioma_Homo sapiens_hsa052140.56068615
145Tight junction_Homo sapiens_hsa045300.55210899
146Prion diseases_Homo sapiens_hsa050200.55174077
147Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.55006378
148Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.54955026
149Cholinergic synapse_Homo sapiens_hsa047250.54415540
150Glycerophospholipid metabolism_Homo sapiens_hsa005640.54412730
151Acute myeloid leukemia_Homo sapiens_hsa052210.54124134
152Staphylococcus aureus infection_Homo sapiens_hsa051500.53851893
153AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.53452065
154Vascular smooth muscle contraction_Homo sapiens_hsa042700.50209267
155Estrogen signaling pathway_Homo sapiens_hsa049150.48792040
156Primary bile acid biosynthesis_Homo sapiens_hsa001200.48628529
157Hepatitis C_Homo sapiens_hsa051600.48555295
158Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.48094996
159Nicotine addiction_Homo sapiens_hsa050330.47783756
160Salivary secretion_Homo sapiens_hsa049700.47778342
161Rap1 signaling pathway_Homo sapiens_hsa040150.46961853
162Cysteine and methionine metabolism_Homo sapiens_hsa002700.46797732
163GnRH signaling pathway_Homo sapiens_hsa049120.43638821
164Ribosome_Homo sapiens_hsa030100.43166275
165Ovarian steroidogenesis_Homo sapiens_hsa049130.41505934
166Alcoholism_Homo sapiens_hsa050340.40478229
167Chemical carcinogenesis_Homo sapiens_hsa052040.39108460
168Retinol metabolism_Homo sapiens_hsa008300.37984849
169Measles_Homo sapiens_hsa051620.36850689
170Epstein-Barr virus infection_Homo sapiens_hsa051690.32535791
171Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.32192881
172Serotonergic synapse_Homo sapiens_hsa047260.32093814
173Viral carcinogenesis_Homo sapiens_hsa052030.30842713
174Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.29503665
175Calcium signaling pathway_Homo sapiens_hsa040200.29205131
176Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.28978728
177* Metabolic pathways_Homo sapiens_hsa011000.27172783
178N-Glycan biosynthesis_Homo sapiens_hsa005100.26217140

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