NF2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pre-miRNA processing (GO:0031054)3.79505510
2negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.72317393
3peptidyl-lysine dimethylation (GO:0018027)3.70274647
4plasma membrane repair (GO:0001778)3.57060020
5negative regulation of potassium ion transmembrane transport (GO:1901380)3.55371434
6layer formation in cerebral cortex (GO:0021819)3.43643306
7cytoskeletal anchoring at plasma membrane (GO:0007016)3.42288673
8negative regulation of cell size (GO:0045792)3.42123234
9mitotic sister chromatid segregation (GO:0000070)3.40157713
10protein K6-linked ubiquitination (GO:0085020)3.27999859
11negative regulation of nitric-oxide synthase activity (GO:0051001)3.27735134
12nuclear pore complex assembly (GO:0051292)3.20125236
13nuclear pore organization (GO:0006999)3.15586998
14cardiac myofibril assembly (GO:0055003)3.14172662
15NLS-bearing protein import into nucleus (GO:0006607)3.11989422
16maturation of 5.8S rRNA (GO:0000460)3.10170057
17protein deneddylation (GO:0000338)3.08660795
18paraxial mesoderm development (GO:0048339)3.06288649
19cell migration in hindbrain (GO:0021535)3.06023286
20cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.05270633
21cullin deneddylation (GO:0010388)3.03869603
22regulation of posttranscriptional gene silencing (GO:0060147)3.01191475
23regulation of gene silencing by miRNA (GO:0060964)3.01191475
24regulation of gene silencing by RNA (GO:0060966)3.01191475
25adherens junction assembly (GO:0034333)2.98331206
26cell communication by electrical coupling (GO:0010644)2.96388599
27proteasome assembly (GO:0043248)2.95678820
28regulation of translational fidelity (GO:0006450)2.95570564
29establishment of apical/basal cell polarity (GO:0035089)2.95181693
30regulation of NFAT protein import into nucleus (GO:0051532)2.95126328
31sister chromatid segregation (GO:0000819)2.94506499
32cytoplasmic mRNA processing body assembly (GO:0033962)2.94433743
33ventricular cardiac muscle cell development (GO:0055015)2.93905409
34* regulation of hippo signaling (GO:0035330)2.91707343
35heterochromatin organization (GO:0070828)2.91675527
36polarized epithelial cell differentiation (GO:0030859)2.89266412
37negative regulation of axon extension involved in axon guidance (GO:0048843)2.86682455
38intracellular estrogen receptor signaling pathway (GO:0030520)2.83756362
39negative regulation of histone methylation (GO:0031061)2.82750939
40mitotic metaphase plate congression (GO:0007080)2.82105521
41hippo signaling (GO:0035329)2.81626950
42establishment or maintenance of monopolar cell polarity (GO:0061339)2.78431964
43establishment of monopolar cell polarity (GO:0061162)2.78431964
44sarcomere organization (GO:0045214)2.76329965
45carnitine shuttle (GO:0006853)2.73130646
46regulation of translational termination (GO:0006449)2.71862267
47sodium ion export (GO:0071436)2.70728687
48cell communication involved in cardiac conduction (GO:0086065)2.68269062
49pericardium development (GO:0060039)2.68147438
50replication fork processing (GO:0031297)2.66979214
51nucleobase-containing small molecule interconversion (GO:0015949)2.66267745
52metaphase plate congression (GO:0051310)2.64387999
53cell-substrate adherens junction assembly (GO:0007045)2.64310146
54focal adhesion assembly (GO:0048041)2.64310146
55regulation of RNA export from nucleus (GO:0046831)2.64222445
56DNA replication-dependent nucleosome assembly (GO:0006335)2.63983001
57DNA replication-dependent nucleosome organization (GO:0034723)2.63983001
58regulation of centriole replication (GO:0046599)2.63948837
59histone H4-K8 acetylation (GO:0043982)2.63579196
60histone H4-K5 acetylation (GO:0043981)2.63579196
61epithelial cell-cell adhesion (GO:0090136)2.62229865
62regulation of spindle organization (GO:0090224)2.61981154
63positive regulation of synapse maturation (GO:0090129)2.61684972
64protein heterotetramerization (GO:0051290)2.61519324
65cell junction maintenance (GO:0034331)2.59951016
66spliceosomal tri-snRNP complex assembly (GO:0000244)2.59270816
67glucocorticoid receptor signaling pathway (GO:0042921)2.59140921
68histone H3-K9 demethylation (GO:0033169)2.58871231
69mitochondrion transport along microtubule (GO:0047497)2.58613618
70establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.58613618
71positive regulation of SMAD protein import into nucleus (GO:0060391)2.57036713
72regulation of mitotic spindle organization (GO:0060236)2.56665643
73spindle assembly involved in mitosis (GO:0090307)2.56167009
74protein localization to endosome (GO:0036010)2.56049443
75mitochondrial RNA metabolic process (GO:0000959)2.53410008
76heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.52066623
77establishment of nucleus localization (GO:0040023)2.52055835
78insulin-like growth factor receptor signaling pathway (GO:0048009)2.51030286
79anterior/posterior axis specification, embryo (GO:0008595)2.48676048
80establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)2.47550823
81growth hormone secretion (GO:0030252)2.47484278
82postreplication repair (GO:0006301)2.47056314
83ribosome assembly (GO:0042255)2.46809418
84cell-cell junction maintenance (GO:0045217)2.46807415
85UDP-N-acetylglucosamine metabolic process (GO:0006047)2.46235153
86regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.43558228
87stress fiber assembly (GO:0043149)2.43287632
88cardiac muscle cell development (GO:0055013)2.42907759
89lymphangiogenesis (GO:0001946)2.42782064
90mRNA stabilization (GO:0048255)2.42575554
91RNA stabilization (GO:0043489)2.42575554
92tRNA methylation (GO:0030488)2.42346518
93myofibril assembly (GO:0030239)2.42036766
94ventricular cardiac muscle cell action potential (GO:0086005)2.41634461
95apoptotic process involved in morphogenesis (GO:0060561)2.40823623
96mitotic sister chromatid cohesion (GO:0007064)2.40271004
97regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.38534295
98cell-substrate junction assembly (GO:0007044)2.38420016
99negative regulation of axon guidance (GO:1902668)2.38339452
100gene silencing (GO:0016458)2.36746773
101pseudouridine synthesis (GO:0001522)2.36734807
102positive regulation of RNA splicing (GO:0033120)2.36599142
103fibroblast migration (GO:0010761)2.36249731
104planar cell polarity pathway involved in neural tube closure (GO:0090179)2.35566937
105tRNA aminoacylation for protein translation (GO:0006418)2.34964638
106negative regulation of organelle assembly (GO:1902116)2.34771718
107gene silencing by RNA (GO:0031047)2.34580051
108histone H4-K12 acetylation (GO:0043983)2.34451579
109negative regulation of catenin import into nucleus (GO:0035414)2.33713630
110membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.33678366
111negative regulation of nucleotide catabolic process (GO:0030812)2.33283990
112negative regulation of synaptic transmission, GABAergic (GO:0032229)2.32844780
113regulation of chromatin binding (GO:0035561)2.32781691
114tRNA aminoacylation (GO:0043039)2.32390215
115amino acid activation (GO:0043038)2.32390215
116ribonucleoprotein complex disassembly (GO:0032988)2.30470566
117regulation of cellular amino acid metabolic process (GO:0006521)2.30250145
118regulation of SMAD protein import into nucleus (GO:0060390)2.29684969
119dorsal/ventral axis specification (GO:0009950)2.29670415
120regulation of nucleobase-containing compound transport (GO:0032239)2.28960583
121mitotic spindle organization (GO:0007052)2.28893445
122maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.28647639
123histone H3-K36 demethylation (GO:0070544)2.28433313
124positive regulation of actin filament depolymerization (GO:0030836)2.28310026
125microtubule cytoskeleton organization involved in mitosis (GO:1902850)2.28280295
126DNA replication checkpoint (GO:0000076)2.28246747
127anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.27734198
128histone H2A monoubiquitination (GO:0035518)2.27445537
129DNA strand elongation involved in DNA replication (GO:0006271)2.27308164
130peptidyl-arginine omega-N-methylation (GO:0035247)2.27215646
131positive regulation of histone deacetylation (GO:0031065)2.27039253
132histone lysine demethylation (GO:0070076)2.26576511
133cardiac cell development (GO:0055006)2.26514169
134cell adhesion mediated by integrin (GO:0033627)2.26192998
135DNA strand elongation (GO:0022616)2.26029507
136endosome to pigment granule transport (GO:0043485)2.25903552
137endosome to melanosome transport (GO:0035646)2.25903552
138negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.25816322
139histone H4-K16 acetylation (GO:0043984)2.25811924
140protein localization to kinetochore (GO:0034501)2.25074115
141stress granule assembly (GO:0034063)2.23547970
142regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.23138055
143gastrulation with mouth forming second (GO:0001702)2.22961680
144synaptic vesicle maturation (GO:0016188)2.22788305
145establishment of chromosome localization (GO:0051303)2.22519083
146positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.22358445
147peptidyl-threonine modification (GO:0018210)2.20855397
148peptidyl-threonine phosphorylation (GO:0018107)2.20822804
149cardiac muscle contraction (GO:0060048)2.20608158
150peptidyl-arginine methylation (GO:0018216)2.20300147
151peptidyl-arginine N-methylation (GO:0035246)2.20300147
152regulation of centrosome cycle (GO:0046605)2.19906261
153mitochondrial DNA replication (GO:0006264)2.19532090
154membrane raft organization (GO:0031579)2.19121901
155regulation of transforming growth factor beta2 production (GO:0032909)2.18885781
156DNA double-strand break processing (GO:0000729)2.18316254
157regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.17937738
158translesion synthesis (GO:0019985)2.16571975
159dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.16010691
160positive regulation of protein targeting to membrane (GO:0090314)2.14891360
161positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.14243000
162DNA-dependent DNA replication (GO:0006261)2.13125377
163negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.12370335
164hemidesmosome assembly (GO:0031581)2.12302463
165mitotic cytokinesis (GO:0000281)2.11843538
166protein localization to chromosome, centromeric region (GO:0071459)2.09994958
167type B pancreatic cell proliferation (GO:0044342)2.08258123
168meiotic chromosome segregation (GO:0045132)2.08110562
169regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.07986404
170histone-serine phosphorylation (GO:0035404)2.06996084
171regulation of centrosome duplication (GO:0010824)2.04757404
172positive regulation of protein autophosphorylation (GO:0031954)2.03597401
173spindle checkpoint (GO:0031577)2.03223267
174negative regulation of ligase activity (GO:0051352)2.01841664
175negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.01841664
176peptidyl-histidine modification (GO:0018202)2.01827824
177CENP-A containing nucleosome assembly (GO:0034080)2.01706935
178artery development (GO:0060840)2.00760326
179muscle cell cellular homeostasis (GO:0046716)2.00724035
180* negative regulation of JAK-STAT cascade (GO:0046426)2.00375141
181regulation of sister chromatid cohesion (GO:0007063)1.98851549
182mitotic nuclear envelope disassembly (GO:0007077)1.98687811
183facial nerve structural organization (GO:0021612)1.98211185
184signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)1.98176331
185signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)1.98176331
186signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)1.98176331
187lipopolysaccharide biosynthetic process (GO:0009103)1.98092037
188deoxyribonucleotide biosynthetic process (GO:0009263)1.97543046
189ribosome biogenesis (GO:0042254)1.97537828
190positive regulation of chromosome segregation (GO:0051984)1.97377824
191DNA replication initiation (GO:0006270)1.97096953

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.71624002
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.67880582
3* SMAD3_22036565_ChIP-Seq_ESCs_Mouse3.10584142
4FOXM1_23109430_ChIP-Seq_U2OS_Human3.09236833
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.01713190
6NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.94760795
7E2F4_17652178_ChIP-ChIP_JURKAT_Human2.92824348
8* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.90219089
9NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.89367929
10EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.80581643
11ZFP281_18757296_ChIP-ChIP_E14_Mouse2.68903775
12GABP_17652178_ChIP-ChIP_JURKAT_Human2.68800025
13BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.63703014
14ZNF263_19887448_ChIP-Seq_K562_Human2.49410459
15ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.48906320
16ZIC3_20872845_ChIP-ChIP_MESCs_Mouse2.44800510
17STAT6_21828071_ChIP-Seq_BEAS2B_Human2.44216255
18AR_21909140_ChIP-Seq_LNCAP_Human2.40335934
19ETS1_20019798_ChIP-Seq_JURKAT_Human2.33039683
20SALL4_18804426_ChIP-ChIP_MESCs_Mouse2.28135977
21* ZFP281_27345836_Chip-Seq_ESCs_Mouse2.27793545
22ZNF274_21170338_ChIP-Seq_K562_Hela2.24143092
23EGR1_19374776_ChIP-ChIP_THP-1_Human2.24080877
24MYC_22102868_ChIP-Seq_BL_Human2.22431201
25KDM2B_26808549_Chip-Seq_DND41_Human2.19858014
26E2F7_22180533_ChIP-Seq_HELA_Human2.17484775
27TCF3_18467660_ChIP-ChIP_MESCs_Mouse2.17283490
28EST1_17652178_ChIP-ChIP_JURKAT_Human2.17192982
29SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.17184560
30HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.16767907
31SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.07853152
32KDM2B_26808549_Chip-Seq_SUP-B15_Human2.07357824
33ELK1_19687146_ChIP-ChIP_HELA_Human2.03477954
34THAP11_20581084_ChIP-Seq_MESCs_Mouse2.03136657
35KDM2B_26808549_Chip-Seq_K562_Human2.02765910
36* BRD4_25478319_ChIP-Seq_HGPS_Human1.95376134
37DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.95356127
38WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.95237967
39PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.90697946
40NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.88929282
41HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.83828360
42MYC_18555785_ChIP-Seq_MESCs_Mouse1.78740758
43NELFA_20434984_ChIP-Seq_ESCs_Mouse1.77236671
44SRF_21415370_ChIP-Seq_HL-1_Mouse1.77064093
45KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.76393601
46POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.76241770
47DCP1A_22483619_ChIP-Seq_HELA_Human1.75997408
48* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.75230492
49* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.71221823
50SALL1_21062744_ChIP-ChIP_HESCs_Human1.69787397
51NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.69557614
52GABP_19822575_ChIP-Seq_HepG2_Human1.67963878
53TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.67680442
54TCF7_22412390_ChIP-Seq_EML_Mouse1.67392968
55KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.66648986
56NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.65949304
57CREB1_15753290_ChIP-ChIP_HEK293T_Human1.65268642
58KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.64182689
59KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.64182689
60KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.64182689
61* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.64011656
62STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.63357294
63SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.62710201
64* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.62405064
65EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.61637827
66EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.60260704
67KDM2B_26808549_Chip-Seq_JURKAT_Human1.59627272
68MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.59433853
69ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.59003883
70TP63_17297297_ChIP-ChIP_HaCaT_Human1.53077072
71MYC_18358816_ChIP-ChIP_MESCs_Mouse1.52177351
72TRIM28_21343339_ChIP-Seq_HEK293_Human1.51642501
73RACK7_27058665_Chip-Seq_MCF-7_Human1.50343145
74* E2F1_21310950_ChIP-Seq_MCF-7_Human1.50127512
75CLOCK_20551151_ChIP-Seq_293T_Human1.49609679
76KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.48315557
77MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.47663437
78CREB1_26743006_Chip-Seq_LNCaP_Human1.47452040
79RARB_27405468_Chip-Seq_BRAIN_Mouse1.46730870
80LXR_22292898_ChIP-Seq_THP-1_Human1.46525306
81NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.46043007
82* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.44634766
83E2F1_18555785_ChIP-Seq_MESCs_Mouse1.43597598
84NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.43081266
85YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.42354962
86CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.41655987
87PADI4_21655091_ChIP-ChIP_MCF-7_Human1.41334935
88ELK3_25401928_ChIP-Seq_HUVEC_Human1.40093575
89NANOG_21062744_ChIP-ChIP_HESCs_Human1.38891462
90PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.38374819
91POU5F1_16518401_ChIP-PET_MESCs_Mouse1.38337699
92MYC_18940864_ChIP-ChIP_HL60_Human1.38150478
93FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.36329302
94TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.35167165
95ESR1_15608294_ChIP-ChIP_MCF-7_Human1.32997931
96MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.32084595
97ATF3_27146783_Chip-Seq_COLON_Human1.31269093
98* CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.30526374
99TCF3_18692474_ChIP-Seq_MESCs_Mouse1.30504235
100TCF3_18692474_ChIP-Seq_MEFs_Mouse1.30134324
101RUNX1_27514584_Chip-Seq_MCF-7_Human1.29488716
102SMAD_19615063_ChIP-ChIP_OVARY_Human1.29455801
103KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.27968355
104FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.27567939
105ESR2_21235772_ChIP-Seq_MCF-7_Human1.27027823
106HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.26568697
107GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.26512383
108TBX20_22328084_ChIP-Seq_HEART_Mouse1.26251899
109TBX20_22080862_ChIP-Seq_HEART_Mouse1.26251899
110ISL1_27105846_Chip-Seq_CPCs_Mouse1.24857193
111SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.23979293
112SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.23979293
113VDR_23849224_ChIP-Seq_CD4+_Human1.23588179
114PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.23413582
115* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.23273988
116CJUN_26792858_Chip-Seq_BT549_Human1.22838533
117NOTCH1_21737748_ChIP-Seq_TLL_Human1.22059393
118RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.21742917
119HIF1A_21447827_ChIP-Seq_MCF-7_Human1.20172655
120KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.19264823
121TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.19030838
122* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.18103611
123DROSHA_22980978_ChIP-Seq_HELA_Human1.17835191
124* CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.16798842
125* TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.15271943
126SOX17_20123909_ChIP-Seq_XEN_Mouse1.13261264
127UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.13105551
128ERG_21242973_ChIP-ChIP_JURKAT_Human1.12477667
129FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.12372372
130TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.12089680
131SMC4_20622854_ChIP-Seq_HELA_Human1.10871314
132GBX2_23144817_ChIP-Seq_PC3_Human1.10210105
133ELK1_22589737_ChIP-Seq_MCF10A_Human1.09968024
134P68_20966046_ChIP-Seq_HELA_Human1.08622586
135EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.08298145
136KLF4_18555785_ChIP-Seq_MESCs_Mouse1.07684568
137PKCTHETA_26484144_Chip-Seq_BREAST_Human1.07028847
138DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.06999053
139CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.06065493
140* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.05521822
141POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.04629541
142* STAT3_1855785_ChIP-Seq_MESCs_Mouse1.04400512
143DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.04371544
144TP53_22127205_ChIP-Seq_IMR90_Human1.03422868
145TBX5_21415370_ChIP-Seq_HL-1_Mouse1.03409656
146NCOR1_26117541_ChIP-Seq_K562_Human1.02948762
147KDM5A_27292631_Chip-Seq_BREAST_Human1.02560727
148ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.02128266
149* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.02010747
150ELF1_17652178_ChIP-ChIP_JURKAT_Human1.01432495
151FOXP3_21729870_ChIP-Seq_TREG_Human1.00973809
152FOXO3_23340844_ChIP-Seq_DLD1_Human1.00640279
153CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.00567626
154* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99628398
155HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.99140791
156* NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.98663868
157GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.97779658
158* ZFX_18555785_ChIP-Seq_MESCs_Mouse0.97611071
159* SOX2_18692474_ChIP-Seq_MESCs_Mouse0.96768310
160POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.96616267
161* TBX3_20139965_ChIP-Seq_ESCs_Mouse0.95933714
162RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.95631063
163* TBX3_20139965_ChIP-Seq_MESCs_Mouse0.95513584
164E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.95162969
165* SOX9_26525672_Chip-Seq_HEART_Mouse0.93890628
166* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.93620265
167PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.93617837
168* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.93536533
169ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.93486225
170RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.93471064
171* TP53_23651856_ChIP-Seq_MEFs_Mouse0.93253631
172LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92257023
173NANOG_18555785_ChIP-Seq_MESCs_Mouse0.90781397
174EP300_21415370_ChIP-Seq_HL-1_Mouse0.88534527
175POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.88044559
176TTF2_22483619_ChIP-Seq_HELA_Human0.87981636
177ZFP57_27257070_Chip-Seq_ESCs_Mouse0.87344873
178* GATA4_21415370_ChIP-Seq_HL-1_Mouse0.87328487
179* TP53_18474530_ChIP-ChIP_U2OS_Human0.86663750
180XRN2_22483619_ChIP-Seq_HELA_Human0.83337599
181EWS_26573619_Chip-Seq_HEK293_Human0.83236702
182PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.82377838
183CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.81325848
184CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.80890355
185MYC_19079543_ChIP-ChIP_MESCs_Mouse0.80211062
186SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.79531786
187TFEB_21752829_ChIP-Seq_HELA_Human0.79266778
188YY1_21170310_ChIP-Seq_MESCs_Mouse0.78500820
189NANOG_16153702_ChIP-ChIP_HESCs_Human0.78278397
190SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.78129438
191* SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.76835995
192FLI1_27457419_Chip-Seq_LIVER_Mouse0.74915413
193POU5F1_16153702_ChIP-ChIP_HESCs_Human0.74753758

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003950_abnormal_plasma_membrane4.67996455
2MP0003705_abnormal_hypodermis_morpholog3.31122063
3MP0008438_abnormal_cutaneous_collagen2.76584735
4MP0004233_abnormal_muscle_weight2.70289665
5MP0002837_dystrophic_cardiac_calcinosis2.46279575
6MP0004084_abnormal_cardiac_muscle2.45877284
7MP0005076_abnormal_cell_differentiation2.42819171
8MP0005171_absent_coat_pigmentation2.39827507
9MP0000751_myopathy2.36609115
10MP0003283_abnormal_digestive_organ2.29611954
11MP0010094_abnormal_chromosome_stability2.23914647
12MP0002653_abnormal_ependyma_morphology2.20990330
13MP0000015_abnormal_ear_pigmentation2.12875813
14MP0005623_abnormal_meninges_morphology2.08030568
15MP0002102_abnormal_ear_morphology2.06408299
16MP0004185_abnormal_adipocyte_glucose2.03707878
17MP0010234_abnormal_vibrissa_follicle1.98123418
18MP0010352_gastrointestinal_tract_polyps1.95106675
19MP0004859_abnormal_synaptic_plasticity1.89156641
20MP0008961_abnormal_basal_metabolism1.84471142
21MP0008058_abnormal_DNA_repair1.83738199
22MP0004087_abnormal_muscle_fiber1.82129032
23MP0003646_muscle_fatigue1.80862064
24MP0000569_abnormal_digit_pigmentation1.78350436
25MP0009780_abnormal_chondrocyte_physiolo1.72097008
26MP0005666_abnormal_adipose_tissue1.71165724
27MP0004130_abnormal_muscle_cell1.71006360
28MP0000372_irregular_coat_pigmentation1.70498602
29MP0000537_abnormal_urethra_morphology1.69844161
30MP0004858_abnormal_nervous_system1.68627202
31MP0002269_muscular_atrophy1.67498438
32MP0003786_premature_aging1.67330977
33MP0003119_abnormal_digestive_system1.64649930
34MP0002877_abnormal_melanocyte_morpholog1.63225444
35MP0000013_abnormal_adipose_tissue1.58699942
36MP0003077_abnormal_cell_cycle1.58651681
37MP0008932_abnormal_embryonic_tissue1.58488574
38MP0000733_abnormal_muscle_development1.57931647
39MP0004215_abnormal_myocardial_fiber1.57593239
40* MP0002084_abnormal_developmental_patter1.55868703
41MP0010630_abnormal_cardiac_muscle1.55452248
42MP0001299_abnormal_eye_distance/1.55222851
43MP0002234_abnormal_pharynx_morphology1.52617498
44MP0003693_abnormal_embryo_hatching1.50206554
45MP0001730_embryonic_growth_arrest1.49048520
46MP0003941_abnormal_skin_development1.48866457
47MP0002938_white_spotting1.48156968
48MP0000750_abnormal_muscle_regeneration1.47827360
49MP0003937_abnormal_limbs/digits/tail_de1.46631661
50MP0004197_abnormal_fetal_growth/weight/1.46021600
51MP0008007_abnormal_cellular_replicative1.45215084
52MP0003123_paternal_imprinting1.45146780
53MP0003566_abnormal_cell_adhesion1.44682498
54MP0009250_abnormal_appendicular_skeleto1.40803460
55MP0004036_abnormal_muscle_relaxation1.40590189
56MP0005330_cardiomyopathy1.39766097
57MP0002909_abnormal_adrenal_gland1.38440810
58MP0005380_embryogenesis_phenotype1.38386737
59MP0001672_abnormal_embryogenesis/_devel1.38386737
60MP0005375_adipose_tissue_phenotype1.37789826
61MP0001661_extended_life_span1.37629264
62* MP0001849_ear_inflammation1.37132852
63* MP0002085_abnormal_embryonic_tissue1.36842398
64MP0003567_abnormal_fetal_cardiomyocyte1.36688667
65MP0005187_abnormal_penis_morphology1.34174929
66MP0002088_abnormal_embryonic_growth/wei1.34078318
67MP0003984_embryonic_growth_retardation1.33791405
68MP0000747_muscle_weakness1.33381128
69MP0003890_abnormal_embryonic-extraembry1.33289827
70MP0000358_abnormal_cell_content/1.32150105
71MP0002106_abnormal_muscle_physiology1.31814701
72MP0002177_abnormal_outer_ear1.31679316
73MP0005174_abnormal_tail_pigmentation1.31481492
74MP0003385_abnormal_body_wall1.28592827
75MP0003787_abnormal_imprinting1.27666811
76MP0004885_abnormal_endolymph1.27156917
77MP0000428_abnormal_craniofacial_morphol1.26090029
78MP0000759_abnormal_skeletal_muscle1.24636875
79MP0003221_abnormal_cardiomyocyte_apopto1.24493000
80MP0003718_maternal_effect1.23846408
81MP0010307_abnormal_tumor_latency1.21901602
82MP0003137_abnormal_impulse_conducting1.20856573
83MP0003279_aneurysm1.20770588
84MP0004145_abnormal_muscle_electrophysio1.20677343
85MP0000003_abnormal_adipose_tissue1.19397626
86MP0003755_abnormal_palate_morphology1.17749075
87MP0002160_abnormal_reproductive_system1.17482795
88* MP0002086_abnormal_extraembryonic_tissu1.17372537
89MP0001697_abnormal_embryo_size1.17171765
90MP0003115_abnormal_respiratory_system1.16870888
91MP0003111_abnormal_nucleus_morphology1.16367606
92MP0005367_renal/urinary_system_phenotyp1.16357440
93MP0000516_abnormal_urinary_system1.16357440
94MP0010030_abnormal_orbit_morphology1.15871063
95MP0000427_abnormal_hair_cycle1.13693478
96MP0009672_abnormal_birth_weight1.09432273
97MP0005620_abnormal_muscle_contractility1.09379828
98MP0000350_abnormal_cell_proliferation1.08532855
99MP0000534_abnormal_ureter_morphology1.07562223
100MP0005369_muscle_phenotype1.06329178
101MP0003121_genomic_imprinting1.05852022
102MP0003861_abnormal_nervous_system1.05730492
103MP0009278_abnormal_bone_marrow1.04977361
104MP0005248_abnormal_Harderian_gland1.04895373
105MP0000266_abnormal_heart_morphology1.03714680
106MP0003045_fibrosis1.03598494
107MP0009703_decreased_birth_body1.03020194
108MP0009053_abnormal_anal_canal1.02261387
109MP0002972_abnormal_cardiac_muscle1.00234567
110MP0002925_abnormal_cardiovascular_devel1.00072866
111* MP0003935_abnormal_craniofacial_develop0.99709402
112MP0005257_abnormal_intraocular_pressure0.99046065
113MP0005023_abnormal_wound_healing0.98663884
114MP0008775_abnormal_heart_ventricle0.98284187
115* MP0002080_prenatal_lethality0.97945896
116MP0003300_gastrointestinal_ulcer0.96512788
117MP0006138_congestive_heart_failure0.96155588
118MP0006054_spinal_hemorrhage0.95611595
119MP0001958_emphysema0.95014514
120MP0001544_abnormal_cardiovascular_syste0.94746428
121MP0005385_cardiovascular_system_phenoty0.94746428
122MP0000049_abnormal_middle_ear0.93314305
123MP0002060_abnormal_skin_morphology0.93079179
124MP0005503_abnormal_tendon_morphology0.92136925
125MP0009384_cardiac_valve_regurgitation0.91002231
126MP0001348_abnormal_lacrimal_gland0.90897929
127MP0000749_muscle_degeneration0.90753839
128MP0000778_abnormal_nervous_system0.90481219
129MP0000467_abnormal_esophagus_morphology0.89106184
130MP0005670_abnormal_white_adipose0.88860468
131MP0004085_abnormal_heartbeat0.88197743
132MP0003091_abnormal_cell_migration0.87174465
133MP0000538_abnormal_urinary_bladder0.86834003
134MP0003942_abnormal_urinary_system0.83948452
135MP0004270_analgesia0.83929075
136MP0004264_abnormal_extraembryonic_tissu0.82777155
137MP0009697_abnormal_copulation0.81809478
138MP0002697_abnormal_eye_size0.81666797
139MP0005508_abnormal_skeleton_morphology0.80638300
140MP0005408_hypopigmentation0.80279822
141MP0000767_abnormal_smooth_muscle0.79672169
142MP0001243_abnormal_dermal_layer0.79558360
143MP0004272_abnormal_basement_membrane0.79045498
144MP0004134_abnormal_chest_morphology0.78589359
145MP0003806_abnormal_nucleotide_metabolis0.78331133
146MP0002095_abnormal_skin_pigmentation0.76890705
147MP0002108_abnormal_muscle_morphology0.75390734
148MP0005395_other_phenotype0.74990337
149MP0002751_abnormal_autonomic_nervous0.74616450
150MP0002127_abnormal_cardiovascular_syste0.74002787
151MP0000762_abnormal_tongue_morphology0.73906167
152MP0004957_abnormal_blastocyst_morpholog0.73736743
153MP0002896_abnormal_bone_mineralization0.73587222
154MP0002152_abnormal_brain_morphology0.73535894
155MP0010368_abnormal_lymphatic_system0.71214117
156MP0001293_anophthalmia0.69004098
157MP0001542_abnormal_bone_strength0.68663985
158MP0000647_abnormal_sebaceous_gland0.68241193
159MP0002114_abnormal_axial_skeleton0.67624063
160MP0002332_abnormal_exercise_endurance0.67587677
161MP0000613_abnormal_salivary_gland0.64932002

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of the lower motor neuron (HP:0002366)3.34049497
2Premature rupture of membranes (HP:0001788)3.25054202
3Hyperacusis (HP:0010780)2.98307324
4Delayed gross motor development (HP:0002194)2.89890564
5Difficulty running (HP:0009046)2.88788221
6Sudden death (HP:0001699)2.87561956
7Bundle branch block (HP:0011710)2.80886911
8Chromosomal breakage induced by crosslinking agents (HP:0003221)2.75665508
9Exercise-induced muscle cramps (HP:0003710)2.73136496
10Shallow orbits (HP:0000586)2.69020190
11Hyporeflexia of lower limbs (HP:0002600)2.67676993
12Hand muscle atrophy (HP:0009130)2.53539443
13Cerebral aneurysm (HP:0004944)2.52638225
14* Astrocytoma (HP:0009592)2.50864370
15* Abnormality of the astrocytes (HP:0100707)2.50864370
16Increased connective tissue (HP:0009025)2.49579291
17Renal duplication (HP:0000075)2.46088421
18Upper limb amyotrophy (HP:0009129)2.45564823
19Distal upper limb amyotrophy (HP:0007149)2.45564823
20Exercise-induced myalgia (HP:0003738)2.45483211
21Difficulty climbing stairs (HP:0003551)2.44376337
22Chromsome breakage (HP:0040012)2.43599238
23Muscle fiber splitting (HP:0003555)2.40371916
24Aplasia/Hypoplasia of the uvula (HP:0010293)2.39643140
25Lymphangioma (HP:0100764)2.36335341
26Ventricular tachycardia (HP:0004756)2.36234953
27Elfin facies (HP:0004428)2.34017827
28Soft skin (HP:0000977)2.32960464
29Abnormality of the umbilical cord (HP:0010881)2.32028607
30Insomnia (HP:0100785)2.28517287
31* Ependymoma (HP:0002888)2.28028588
32Heterotopia (HP:0002282)2.26681148
33Meckel diverticulum (HP:0002245)2.24432308
34Type II lissencephaly (HP:0007260)2.23265076
35Right ventricular cardiomyopathy (HP:0011663)2.23056055
36Entropion (HP:0000621)2.22167944
37Bilateral sensorineural hearing impairment (HP:0008619)2.21330065
38Abnormality of the ileum (HP:0001549)2.21032357
39Wrist flexion contracture (HP:0001239)2.20510289
40Protrusio acetabuli (HP:0003179)2.18585853
41Neoplasm of the heart (HP:0100544)2.18222700
42Abnormality of the carotid arteries (HP:0005344)2.16713983
43Vascular tortuosity (HP:0004948)2.16215048
44Ventricular fibrillation (HP:0001663)2.15364117
45Termporal pattern (HP:0011008)2.14955683
46Insidious onset (HP:0003587)2.14955683
47Cutaneous melanoma (HP:0012056)2.14024309
48Subacute progressive viral hepatitis (HP:0006572)2.12820396
49Dysmetric saccades (HP:0000641)2.12168539
50Small hand (HP:0200055)2.10527666
51EMG: neuropathic changes (HP:0003445)2.09919681
52Renovascular hypertension (HP:0100817)2.08658860
53Short nail (HP:0001799)2.07872137
54Amyotrophic lateral sclerosis (HP:0007354)2.07441915
55Ulnar bowing (HP:0003031)2.06310800
56Macroorchidism (HP:0000053)2.05926666
57Arterial tortuosity (HP:0005116)2.05479900
58Scapular winging (HP:0003691)2.02801266
59Overriding aorta (HP:0002623)2.00575663
60Reduced subcutaneous adipose tissue (HP:0003758)2.00211161
61Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.99391398
62Spinal rigidity (HP:0003306)1.98518386
63Abnormality of the fetal cardiovascular system (HP:0010948)1.98150415
64Abnormal umbilical cord blood vessels (HP:0011403)1.98150415
65Single umbilical artery (HP:0001195)1.98150415
66Pointed chin (HP:0000307)1.98060676
67Fibular aplasia (HP:0002990)1.96732585
68Abnormality of the preputium (HP:0100587)1.96254784
69Increased nuchal translucency (HP:0010880)1.95767622
70Albinism (HP:0001022)1.95728340
71Aortic dissection (HP:0002647)1.93938636
72Ankle contracture (HP:0006466)1.93652555
73Abnormality of the left ventricular outflow tract (HP:0011103)1.92877167
74Subaortic stenosis (HP:0001682)1.92877167
75Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.92140442
76Nemaline bodies (HP:0003798)1.90920414
77Myoglobinuria (HP:0002913)1.89372756
78Pseudobulbar signs (HP:0002200)1.88614458
79Mildly elevated creatine phosphokinase (HP:0008180)1.88566039
80Shoulder girdle muscle weakness (HP:0003547)1.87957429
81Resting tremor (HP:0002322)1.87066507
82Hypoplastic pelvis (HP:0008839)1.86862665
83Hypokinesia (HP:0002375)1.86234511
84Short 4th metacarpal (HP:0010044)1.85843488
85Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.85843488
86Hypoplastic ischia (HP:0003175)1.85280991
87Neoplasm of the oral cavity (HP:0100649)1.84597465
88Atrioventricular block (HP:0001678)1.83858870
89Aneurysm (HP:0002617)1.83602845
90Adenoma sebaceum (HP:0009720)1.83086206
91Angiofibromas (HP:0010615)1.83086206
92Abnormality of the 1st metacarpal (HP:0010009)1.81254004
93Short 1st metacarpal (HP:0010034)1.81143105
94Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.81143105
95Severe muscular hypotonia (HP:0006829)1.80778486
96Pelvic girdle muscle weakness (HP:0003749)1.79775706
97Abnormality of glycolysis (HP:0004366)1.79194416
98Genu recurvatum (HP:0002816)1.78057362
99Flat cornea (HP:0007720)1.77572786
100Calf muscle hypertrophy (HP:0008981)1.77521106
101Hypoplasia of the capital femoral epiphysis (HP:0003090)1.77413765
102Slender long bone (HP:0003100)1.77365429
103Gastrointestinal carcinoma (HP:0002672)1.77329309
104Malignant gastrointestinal tract tumors (HP:0006749)1.77329309
105Asymmetric septal hypertrophy (HP:0001670)1.76717370
106Abnormalities of placenta or umbilical cord (HP:0001194)1.76516298
107Bowel diverticulosis (HP:0005222)1.75117362
108Abnormality of the 4th metacarpal (HP:0010012)1.75085242
109Proximal amyotrophy (HP:0007126)1.74459183
110Abnormality of chromosome stability (HP:0003220)1.74150963
111Duodenal stenosis (HP:0100867)1.73812399
112Small intestinal stenosis (HP:0012848)1.73812399
113Ventricular arrhythmia (HP:0004308)1.73351870
114High pitched voice (HP:0001620)1.72345346
115Bladder diverticulum (HP:0000015)1.71277056
116Shawl scrotum (HP:0000049)1.70952024
117Ankyloglossia (HP:0010296)1.70326624
118Ectopic kidney (HP:0000086)1.70285828
119Short humerus (HP:0005792)1.70284701
120Primary atrial arrhythmia (HP:0001692)1.69993401
121Atrial fibrillation (HP:0005110)1.69881677
122Mesomelia (HP:0003027)1.69529144
123Muscle fiber inclusion bodies (HP:0100299)1.69411298
124Abnormality of the proximal phalanges of the hand (HP:0009834)1.69294727
125Enlarged penis (HP:0000040)1.69100166
126Lower limb amyotrophy (HP:0007210)1.68944010
127Aplasia/Hypoplasia involving the musculature (HP:0001460)1.68123165
128Amniotic constriction ring (HP:0009775)1.67778168
129Abnormality of placental membranes (HP:0011409)1.67778168
130* Glioma (HP:0009733)1.66513298
131Increased corneal curvature (HP:0100692)1.65857451
132Keratoconus (HP:0000563)1.65857451
133Heart block (HP:0012722)1.64692392
134Squamous cell carcinoma (HP:0002860)1.63896483
135Papillary thyroid carcinoma (HP:0002895)1.63529445
136Uterine leiomyosarcoma (HP:0002891)1.63344882
137Leiomyosarcoma (HP:0100243)1.63344882
138Aortic aneurysm (HP:0004942)1.62818400
139Hereditary nonpolyposis colorectal carcinoma (HP:0006716)1.62735218
140Spinal muscular atrophy (HP:0007269)1.62557798
141Limb-girdle muscle weakness (HP:0003325)1.62063687
142Stillbirth (HP:0003826)1.61725465
143Aplasia of the musculature (HP:0100854)1.61665116
144Lissencephaly (HP:0001339)1.61657251
145Volvulus (HP:0002580)1.61587316
146Prominent metopic ridge (HP:0005487)1.61081225
147Megalocornea (HP:0000485)1.60944434
148Achilles tendon contracture (HP:0001771)1.60909351
149Abnormality of the diencephalon (HP:0010662)1.60795154
150Hepatoblastoma (HP:0002884)1.60507197
151Aplasia/Hypoplasia of the fibula (HP:0006492)1.60265269
152Radial bowing (HP:0002986)1.60126824
153Abnormality of the calf musculature (HP:0001430)1.59015581
154Visual hallucinations (HP:0002367)1.58581427
155Bowed forearm bones (HP:0003956)1.58538143
156Bowing of the arm (HP:0006488)1.58538143
157Fragile skin (HP:0001030)1.58407363
158* Fibroma (HP:0010614)1.57905900
159Cerebellar dysplasia (HP:0007033)1.57350746
160Hypopigmentation of the fundus (HP:0007894)1.57315096
161Supraventricular arrhythmia (HP:0005115)1.57123827
162Metaphyseal cupping (HP:0003021)1.56824864
163Increased variability in muscle fiber diameter (HP:0003557)1.56708950
164Spinal cord compression (HP:0002176)1.56639038
165Short phalanx of the thumb (HP:0009660)1.56611504
166Type 1 muscle fiber predominance (HP:0003803)1.56111793
167Absent thumb (HP:0009777)1.56089904
168Abnormality of the labia minora (HP:0012880)1.55261719
169Decreased subcutaneous fat (HP:0001002)1.54770610
170Microretrognathia (HP:0000308)1.54446281
171Chorioretinal atrophy (HP:0000533)1.52937621
172Arteriovenous malformation (HP:0100026)1.51420673
173Aortic regurgitation (HP:0001659)1.50274809
174Neoplasm of the adrenal cortex (HP:0100641)1.49900230
175Birth length less than 3rd percentile (HP:0003561)1.49809635
176Atrophic scars (HP:0001075)1.49336514
177Aplasia/hypoplasia of the humerus (HP:0006507)1.48752639
178Abnormality of the metopic suture (HP:0005556)1.48599548
179Aplasia/Hypoplasia of the patella (HP:0006498)1.45327782
180Popliteal pterygium (HP:0009756)1.44245884
181Abnormality of subcutaneous fat tissue (HP:0001001)1.43566877
182Abnormality of DNA repair (HP:0003254)1.42828723
183Stridor (HP:0010307)1.42534838
184Microglossia (HP:0000171)1.42524199
185Muscle hypertrophy of the lower extremities (HP:0008968)1.42267540
186Redundant skin (HP:0001582)1.41642391
187Follicular hyperkeratosis (HP:0007502)1.41211100
188Short thumb (HP:0009778)1.40333211
189Hyperalaninemia (HP:0003348)1.40155178
190Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.40155178

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB33.97841889
2BUB13.92113567
3PKN23.36253283
4CDK123.00996666
5EIF2AK12.78557623
6PBK2.74059180
7EEF2K2.73217671
8NEK12.61847862
9LATS22.52233864
10TTN2.42193842
11ZAK2.40809193
12ICK2.40220472
13LATS12.19427193
14PRKD32.18587053
15TRIM282.14606912
16EIF2AK32.10486202
17MST1R2.09236480
18MAP3K92.05482540
19MARK12.02935284
20RIPK11.92642289
21PDGFRA1.89549912
22MUSK1.84561168
23FRK1.81341337
24LIMK11.79290101
25PDK31.77553339
26PDK41.77553339
27TYRO31.74712578
28PHKG11.72407696
29PHKG21.72407696
30TSSK61.66263670
31KSR21.62471762
32ERBB41.60755430
33ALK1.58661418
34CDK81.56512248
35PLK31.49890793
36MYLK1.49348457
37MAP3K101.48707756
38STK381.44387759
39MAP3K121.43977051
40BMPR1B1.43858727
41DMPK1.41896981
42CAMK1G1.39844097
43DDR21.39421714
44CAMK1D1.37168976
45MTOR1.37069596
46TLK11.33309332
47NEK21.32100861
48PLK21.31287619
49FLT31.30222507
50LMTK21.27866722
51PTK61.24516681
52TAOK11.23953172
53PLK11.23645481
54PRKCI1.20060892
55ERBB31.16989729
56MELK1.16006295
57SCYL21.15227283
58BRSK21.15116448
59CCNB11.12787728
60BRSK11.06035402
61STK38L1.05140977
62KSR11.02300674
63RET1.02164036
64CAMKK11.01804261
65WEE10.99228656
66MAPKAPK30.98901864
67PAK30.96074452
68EIF2AK20.94579791
69AURKA0.93113937
70WNK30.92266326
71MAP3K40.89771051
72BMX0.89717094
73SIK20.89076706
74NUAK10.88906499
75AURKB0.88616114
76PASK0.88055712
77CDC42BPA0.87923775
78MAPKAPK50.86232175
79SRPK10.85129792
80TTK0.85005798
81CSNK1A1L0.83691574
82CDC70.83391489
83MAP3K70.82299338
84PRKAA10.78786489
85PAK40.77964460
86PLK40.75533669
87CSNK1G30.75268894
88MAP2K10.74596855
89CDK60.74547441
90ATR0.73312219
91PDK20.72298947
92STK30.71895697
93PDGFRB0.71819376
94PIM20.71013356
95CLK10.70295396
96DYRK1B0.69172354
97GRK10.68974448
98MARK20.68648379
99CDK40.68491630
100PTK20.68404375
101CSNK1G10.67753222
102MKNK20.67429823
103DAPK10.66264572
104NTRK10.66211322
105SIK10.65784787
106ADRBK10.64969541
107TIE10.64855338
108DAPK30.64570779
109CAMK2D0.63525456
110MAPK130.63473158
111MAP3K60.62740575
112AKT30.62683514
113CHEK10.62427018
114EPHA20.62370600
115FER0.61834654
116STK40.60635320
117CAMK2G0.60218312
118MAP3K20.59799979
119EPHB20.59122292
120CAMK2B0.58888577
121TRPM70.58586879
122VRK10.57414977
123PRKCE0.57078770
124MINK10.56728946
125PRKD10.56050389
126ERN10.55899089
127* PAK60.55774402
128NTRK20.55700797
129STK100.55522377
130ROCK10.55245728
131BCR0.55077514
132STK390.54955075
133ILK0.54908030
134NTRK30.54714642
135UHMK10.53997650
136CSNK1D0.53816102
137WNK40.53253835
138TGFBR20.53164103
139CDK70.52835133
140IRAK30.52523776
141AKT20.51874129
142FGFR10.50452153
143RPS6KB20.50261498
144CSNK1G20.49882970
145CDK20.49857141
146STK160.49513276
147RPS6KA20.49327937
148ROCK20.49139973
149MAPK100.48592022
150MAP4K20.48544519
151CSNK1E0.48069834
152ATM0.46228109
153PRKCH0.46134276
154WNK10.45477018
155BRD40.45110024
156STK110.44725848
157PNCK0.44518917
158DAPK20.43501968
159CHEK20.43318474
160RPS6KA10.42748494
161MAP3K80.41990215
162PRKDC0.38448977
163GSK3B0.38322708
164TESK10.38316273
165* PAK20.37532110
166RPS6KA30.36370158
167MET0.36293899
168SGK30.35899593
169PRKD20.35857293
170CDK10.35775435
171DYRK20.33995199
172MAPK80.33421930

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030502.98061925
2Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.78222533
3Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.74621357
4Vitamin B6 metabolism_Homo sapiens_hsa007502.61460367
5Selenocompound metabolism_Homo sapiens_hsa004502.44777754
6Fanconi anemia pathway_Homo sapiens_hsa034602.12244552
7mTOR signaling pathway_Homo sapiens_hsa041502.07250209
8Non-homologous end-joining_Homo sapiens_hsa034502.05100869
9DNA replication_Homo sapiens_hsa030302.00673134
10RNA polymerase_Homo sapiens_hsa030201.95716955
11Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.85286938
12Homologous recombination_Homo sapiens_hsa034401.83700815
132-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.82341178
14Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.79239515
15Dilated cardiomyopathy_Homo sapiens_hsa054141.78617236
16Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.73783712
17Sulfur metabolism_Homo sapiens_hsa009201.71843056
18Pyrimidine metabolism_Homo sapiens_hsa002401.64185806
19Endometrial cancer_Homo sapiens_hsa052131.62473284
20Mismatch repair_Homo sapiens_hsa034301.61311565
21Type II diabetes mellitus_Homo sapiens_hsa049301.61196256
22One carbon pool by folate_Homo sapiens_hsa006701.59151492
23Nucleotide excision repair_Homo sapiens_hsa034201.57179653
24Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.55263540
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.55006627
26Central carbon metabolism in cancer_Homo sapiens_hsa052301.52768535
27Thyroid hormone signaling pathway_Homo sapiens_hsa049191.52749283
28Cell cycle_Homo sapiens_hsa041101.51771360
29Base excision repair_Homo sapiens_hsa034101.51010023
30Adherens junction_Homo sapiens_hsa045201.49972162
31p53 signaling pathway_Homo sapiens_hsa041151.44807724
32Lysine degradation_Homo sapiens_hsa003101.43499154
33Dorso-ventral axis formation_Homo sapiens_hsa043201.43442714
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.43275083
35Protein export_Homo sapiens_hsa030601.37572435
36Basal transcription factors_Homo sapiens_hsa030221.36729556
37Insulin signaling pathway_Homo sapiens_hsa049101.36159485
38Glioma_Homo sapiens_hsa052141.35330057
39Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.34967569
40Longevity regulating pathway - mammal_Homo sapiens_hsa042111.34476921
41Tight junction_Homo sapiens_hsa045301.31048932
42* Hippo signaling pathway_Homo sapiens_hsa043901.31014864
43Chronic myeloid leukemia_Homo sapiens_hsa052201.30042421
44Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.29986337
45Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.29446790
46Estrogen signaling pathway_Homo sapiens_hsa049151.29181736
47AMPK signaling pathway_Homo sapiens_hsa041521.29122312
48N-Glycan biosynthesis_Homo sapiens_hsa005101.28116937
49Renal cell carcinoma_Homo sapiens_hsa052111.27421480
50Focal adhesion_Homo sapiens_hsa045101.25145619
51Glucagon signaling pathway_Homo sapiens_hsa049221.25123577
52Insulin resistance_Homo sapiens_hsa049311.24797286
53Colorectal cancer_Homo sapiens_hsa052101.22754360
54Sulfur relay system_Homo sapiens_hsa041221.20415778
55Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.20291303
56VEGF signaling pathway_Homo sapiens_hsa043701.18828026
57Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.18681320
58Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.18345213
59Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.17579355
60Oocyte meiosis_Homo sapiens_hsa041141.16924600
61Alcoholism_Homo sapiens_hsa050341.15780140
62Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.15271612
63Viral myocarditis_Homo sapiens_hsa054161.14936865
64MicroRNAs in cancer_Homo sapiens_hsa052061.11479029
65Basal cell carcinoma_Homo sapiens_hsa052171.10659738
66TGF-beta signaling pathway_Homo sapiens_hsa043501.10334885
67mRNA surveillance pathway_Homo sapiens_hsa030151.10135978
68Fatty acid elongation_Homo sapiens_hsa000621.09726005
69Proteoglycans in cancer_Homo sapiens_hsa052051.09501108
70Fatty acid biosynthesis_Homo sapiens_hsa000611.08652260
71Long-term potentiation_Homo sapiens_hsa047201.06809610
72Notch signaling pathway_Homo sapiens_hsa043301.06747500
73Non-small cell lung cancer_Homo sapiens_hsa052231.05821714
74Neurotrophin signaling pathway_Homo sapiens_hsa047221.05161873
75Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.04901263
76GnRH signaling pathway_Homo sapiens_hsa049121.04744869
77cGMP-PKG signaling pathway_Homo sapiens_hsa040221.04333317
78Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.03534855
79Oxytocin signaling pathway_Homo sapiens_hsa049211.03331470
80Gap junction_Homo sapiens_hsa045401.02362707
81Insulin secretion_Homo sapiens_hsa049111.02238598
82ErbB signaling pathway_Homo sapiens_hsa040121.01750760
83Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.01580856
84Carbohydrate digestion and absorption_Homo sapiens_hsa049730.99684890
85Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.97870902
86Steroid biosynthesis_Homo sapiens_hsa001000.97667704
87Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.96410863
88Purine metabolism_Homo sapiens_hsa002300.96023592
89Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.93967271
90Bladder cancer_Homo sapiens_hsa052190.93235094
91Axon guidance_Homo sapiens_hsa043600.93087749
92Folate biosynthesis_Homo sapiens_hsa007900.90119880
93Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.90061783
94Aldosterone synthesis and secretion_Homo sapiens_hsa049250.89401379
95Gastric acid secretion_Homo sapiens_hsa049710.89174139
96Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.88326748
97Hedgehog signaling pathway_Homo sapiens_hsa043400.86060612
98RNA degradation_Homo sapiens_hsa030180.84731648
99Small cell lung cancer_Homo sapiens_hsa052220.84352085
100Wnt signaling pathway_Homo sapiens_hsa043100.84206442
101Renin secretion_Homo sapiens_hsa049240.82439954
102Systemic lupus erythematosus_Homo sapiens_hsa053220.82401001
103Regulation of actin cytoskeleton_Homo sapiens_hsa048100.82275141
104Cysteine and methionine metabolism_Homo sapiens_hsa002700.81835676
105Melanogenesis_Homo sapiens_hsa049160.81539904
106Vibrio cholerae infection_Homo sapiens_hsa051100.81500864
107HIF-1 signaling pathway_Homo sapiens_hsa040660.80476239
108Cholinergic synapse_Homo sapiens_hsa047250.80291999
109Phosphatidylinositol signaling system_Homo sapiens_hsa040700.79496092
110Dopaminergic synapse_Homo sapiens_hsa047280.79229692
111Phospholipase D signaling pathway_Homo sapiens_hsa040720.78626654
112Pancreatic cancer_Homo sapiens_hsa052120.78031999
113RNA transport_Homo sapiens_hsa030130.76489533
114Adipocytokine signaling pathway_Homo sapiens_hsa049200.76236967
115Choline metabolism in cancer_Homo sapiens_hsa052310.74902421
116Pyruvate metabolism_Homo sapiens_hsa006200.73795610
117Rap1 signaling pathway_Homo sapiens_hsa040150.72998429
118Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.72838296
119cAMP signaling pathway_Homo sapiens_hsa040240.72603171
120Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.72230361
121Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.72216444
122Biosynthesis of amino acids_Homo sapiens_hsa012300.72154537
123Circadian entrainment_Homo sapiens_hsa047130.71473999
124Prolactin signaling pathway_Homo sapiens_hsa049170.69937203
125Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.69265370
126ECM-receptor interaction_Homo sapiens_hsa045120.69240283
127Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.67838478
128Carbon metabolism_Homo sapiens_hsa012000.67129338
129Thyroid cancer_Homo sapiens_hsa052160.66674707
130Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.66538357
131Melanoma_Homo sapiens_hsa052180.66132408
132MAPK signaling pathway_Homo sapiens_hsa040100.66091396
133Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.65769276
134Phototransduction_Homo sapiens_hsa047440.65317103
135Inositol phosphate metabolism_Homo sapiens_hsa005620.64083559
136Amoebiasis_Homo sapiens_hsa051460.63959115
137Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.63613663
138FoxO signaling pathway_Homo sapiens_hsa040680.62695437
139Glutathione metabolism_Homo sapiens_hsa004800.62628352
140Endocytosis_Homo sapiens_hsa041440.62126014
141Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.61347071
142Acute myeloid leukemia_Homo sapiens_hsa052210.60235339
143Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.60157516
144Salivary secretion_Homo sapiens_hsa049700.60022691
145Nitrogen metabolism_Homo sapiens_hsa009100.59304491
146AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.59031693
147Pathways in cancer_Homo sapiens_hsa052000.58629441
148Galactose metabolism_Homo sapiens_hsa000520.58513346
149Olfactory transduction_Homo sapiens_hsa047400.57800020
150Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.55899520
151Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.54745632
152Caffeine metabolism_Homo sapiens_hsa002320.53191639
153Sphingolipid metabolism_Homo sapiens_hsa006000.52397153
154Propanoate metabolism_Homo sapiens_hsa006400.49620942
155Butanoate metabolism_Homo sapiens_hsa006500.49457604
156Metabolic pathways_Homo sapiens_hsa011000.47518143
157Pentose phosphate pathway_Homo sapiens_hsa000300.46990623
158Regulation of autophagy_Homo sapiens_hsa041400.46390616
159Huntingtons disease_Homo sapiens_hsa050160.43254370
160Peroxisome_Homo sapiens_hsa041460.41459555
161Parkinsons disease_Homo sapiens_hsa050120.38592565
162PI3K-Akt signaling pathway_Homo sapiens_hsa041510.36874783
163Synaptic vesicle cycle_Homo sapiens_hsa047210.34550081
164Spliceosome_Homo sapiens_hsa030400.33993098
165Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.33675146
166Fructose and mannose metabolism_Homo sapiens_hsa000510.33501354

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