RRM2B

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 the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1nuclear pore complex assembly (GO:0051292)5.45162609
2RNA destabilization (GO:0050779)4.90387949
3nuclear pore organization (GO:0006999)4.88338616
4response to pheromone (GO:0019236)4.60813396
5protein localization to endosome (GO:0036010)4.43889033
6centriole replication (GO:0007099)4.27295046
7COPII vesicle coating (GO:0048208)4.23219954
8regulation of nuclear cell cycle DNA replication (GO:0033262)4.21139569
9piRNA metabolic process (GO:0034587)4.19079293
10ribosome assembly (GO:0042255)4.13669626
11proteasome assembly (GO:0043248)4.10410847
12transcription elongation from RNA polymerase III promoter (GO:0006385)4.06268722
13termination of RNA polymerase III transcription (GO:0006386)4.06268722
14DNA methylation involved in gamete generation (GO:0043046)4.05635181
15kinetochore assembly (GO:0051382)4.04159704
16axon ensheathment in central nervous system (GO:0032291)4.02747141
17central nervous system myelination (GO:0022010)4.02747141
18DNA deamination (GO:0045006)3.93876902
19cell adhesion mediated by integrin (GO:0033627)3.92001893
20DNA damage induced protein phosphorylation (GO:0006975)3.75681677
21DNA damage response, detection of DNA damage (GO:0042769)3.75507107
22synaptonemal complex assembly (GO:0007130)3.74182270
23pore complex assembly (GO:0046931)3.70926819
24DNA replication checkpoint (GO:0000076)3.70779656
25regulation of Rac protein signal transduction (GO:0035020)3.70147103
26ribosomal small subunit biogenesis (GO:0042274)3.68032533
27cellular protein complex localization (GO:0034629)3.60953187
287-methylguanosine mRNA capping (GO:0006370)3.58987719
297-methylguanosine RNA capping (GO:0009452)3.55819503
30RNA capping (GO:0036260)3.55819503
31protein-cofactor linkage (GO:0018065)3.54434897
32positive regulation of macroautophagy (GO:0016239)3.54290848
33Golgi transport vesicle coating (GO:0048200)3.51533585
34COPI coating of Golgi vesicle (GO:0048205)3.51533585
35peptidyl-threonine dephosphorylation (GO:0035970)3.48089692
36synaptonemal complex organization (GO:0070193)3.46276009
37kinetochore organization (GO:0051383)3.45712150
38single strand break repair (GO:0000012)3.45462624
39rRNA modification (GO:0000154)3.43134640
40protein complex localization (GO:0031503)3.38535046
41establishment of integrated proviral latency (GO:0075713)3.34261883
42centriole assembly (GO:0098534)3.31622741
43mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.31059026
44histone H4-K12 acetylation (GO:0043983)3.30135653
45L-alpha-amino acid transmembrane transport (GO:1902475)3.28376229
46negative regulation of DNA repair (GO:0045738)3.24800404
47regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.23788373
48regulation of double-strand break repair via homologous recombination (GO:0010569)3.22152926
49exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.20432017
50L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.19875979
51maturation of 5.8S rRNA (GO:0000460)3.15926322
52mitotic sister chromatid cohesion (GO:0007064)3.15898624
53positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)3.15781467
54paraxial mesoderm development (GO:0048339)3.13592955
55nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.13452370
56otic vesicle formation (GO:0030916)3.11767335
57mitotic metaphase plate congression (GO:0007080)3.08942571
58CENP-A containing nucleosome assembly (GO:0034080)3.08847607
59macroautophagy (GO:0016236)3.07495184
60NLS-bearing protein import into nucleus (GO:0006607)3.07086212
61negative regulation of fibroblast apoptotic process (GO:2000270)3.05787330
62chromatin remodeling at centromere (GO:0031055)3.05563872
63response to lipoprotein particle (GO:0055094)3.03655834
64negative regulation of DNA-dependent DNA replication (GO:2000104)3.02876575
65positive regulation of response to extracellular stimulus (GO:0032106)3.01934012
66positive regulation of response to nutrient levels (GO:0032109)3.01934012
67male meiosis (GO:0007140)3.01833590
68intracellular lipid transport (GO:0032365)3.00346873
69fatty acid homeostasis (GO:0055089)2.99071406
70protein neddylation (GO:0045116)2.99022147
71meiotic chromosome segregation (GO:0045132)2.98095775
72regulation of centriole replication (GO:0046599)2.93673522
73transcription from RNA polymerase I promoter (GO:0006360)2.89513525
74telomere maintenance via semi-conservative replication (GO:0032201)2.88752923
75RNA methylation (GO:0001510)2.88445876
76regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.88341747
77transcription elongation from RNA polymerase I promoter (GO:0006362)2.86953633
78regulation of coenzyme metabolic process (GO:0051196)2.86236693
79regulation of cofactor metabolic process (GO:0051193)2.86236693
80positive regulation of cellular response to insulin stimulus (GO:1900078)2.83827278
81response to X-ray (GO:0010165)2.83800912
82RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.83561715
83tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.83561715
84hippo signaling (GO:0035329)2.83072751
85regulation of telomere maintenance via telomerase (GO:0032210)2.81571755
86termination of RNA polymerase I transcription (GO:0006363)2.80727369
87spliceosomal complex assembly (GO:0000245)2.80433936
88mRNA modification (GO:0016556)2.80394749
89transcription-coupled nucleotide-excision repair (GO:0006283)2.79491131
90glycerophospholipid catabolic process (GO:0046475)2.79106433
91folic acid-containing compound biosynthetic process (GO:0009396)2.78947569
92vesicle coating (GO:0006901)2.78263719
93metaphase plate congression (GO:0051310)2.76829999
94glomerular visceral epithelial cell development (GO:0072015)2.74759691
95negative regulation of protein localization to plasma membrane (GO:1903077)2.74122408
96rRNA processing (GO:0006364)2.73646603
97regulation of meiosis I (GO:0060631)2.73249651
98mitotic G2 DNA damage checkpoint (GO:0007095)2.72979850
99ribosomal large subunit biogenesis (GO:0042273)2.72469886
100chromosome organization involved in meiosis (GO:0070192)2.71571753
101ribonucleoprotein complex biogenesis (GO:0022613)2.71531515
102microtubule polymerization or depolymerization (GO:0031109)2.70799075
103DNA synthesis involved in DNA repair (GO:0000731)2.70288902
104transcription elongation from RNA polymerase II promoter (GO:0006368)2.69903760
105UDP-N-acetylglucosamine metabolic process (GO:0006047)2.69458555
106histone exchange (GO:0043486)2.69098665
107mammary gland epithelial cell proliferation (GO:0033598)2.68441090
108intestinal epithelial cell development (GO:0060576)2.67598966
109telomere maintenance via recombination (GO:0000722)2.66915576
110positive regulation of insulin receptor signaling pathway (GO:0046628)2.66850132
111glycoprotein catabolic process (GO:0006516)2.66554633
112rRNA metabolic process (GO:0016072)2.66168279
113meiotic nuclear division (GO:0007126)2.65552564
114chaperone-mediated protein transport (GO:0072321)2.64841143
115embryonic process involved in female pregnancy (GO:0060136)2.63539837
116resolution of meiotic recombination intermediates (GO:0000712)2.62577542
117regulation of acyl-CoA biosynthetic process (GO:0050812)2.61813084
118male meiosis I (GO:0007141)2.61579663
119IMP metabolic process (GO:0046040)2.61104549
120spliceosomal snRNP assembly (GO:0000387)2.60293205
121regulation of mesoderm development (GO:2000380)2.60212990
122GTP biosynthetic process (GO:0006183)2.59309695
123protein localization to kinetochore (GO:0034501)2.58724641
124L-methionine salvage (GO:0071267)2.58512192
125L-methionine biosynthetic process (GO:0071265)2.58512192
126amino acid salvage (GO:0043102)2.58512192
127telomere maintenance via telomere lengthening (GO:0010833)2.58483310
128positive regulation of meiosis (GO:0045836)2.57994081
129cellular response to vitamin (GO:0071295)2.57225384
130tricarboxylic acid cycle (GO:0006099)2.57145615
131replicative senescence (GO:0090399)2.57022564
132regulation of meiosis (GO:0040020)2.56885611
133cytoplasmic mRNA processing body assembly (GO:0033962)2.56725634
134negative regulation of androgen receptor signaling pathway (GO:0060766)2.56310660
135protein localization to chromosome, centromeric region (GO:0071459)2.55922566
136positive regulation of SMAD protein import into nucleus (GO:0060391)2.55377006
137regulation of epidermal growth factor-activated receptor activity (GO:0007176)2.54970751
138attachment of spindle microtubules to kinetochore (GO:0008608)2.53942106
139iron ion import (GO:0097286)2.53930948
140anterior/posterior axis specification, embryo (GO:0008595)2.53810294
141pseudouridine synthesis (GO:0001522)2.53615744
142plasma membrane repair (GO:0001778)2.52516831
143cellular response to vitamin D (GO:0071305)2.52305800
144establishment of viral latency (GO:0019043)2.52179194
145polyol biosynthetic process (GO:0046173)2.51917734
146rRNA methylation (GO:0031167)2.51532581
147chemical homeostasis within a tissue (GO:0048875)2.51067257
148DNA-templated transcription, elongation (GO:0006354)2.48829841
149alpha-linolenic acid metabolic process (GO:0036109)2.48690035
150positive regulation of mitotic sister chromatid separation (GO:1901970)2.47834698
151positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.47834698
152positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.47834698
153surfactant homeostasis (GO:0043129)2.46347915
154oogenesis (GO:0048477)2.46267861
155meiosis I (GO:0007127)2.45353141
156regulation of cAMP-dependent protein kinase activity (GO:2000479)2.45348934
157negative regulation of NF-kappaB import into nucleus (GO:0042347)2.44932225
158negative regulation of meiosis (GO:0045835)2.44844791
159positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)2.42427712
160positive regulation of meiotic cell cycle (GO:0051446)2.42012883
161positive regulation of viral transcription (GO:0050434)2.41919592
162positive regulation of protein autophosphorylation (GO:0031954)2.41306137
163positive regulation of catenin import into nucleus (GO:0035413)2.41120579
164cell-substrate adherens junction assembly (GO:0007045)2.41074131
165focal adhesion assembly (GO:0048041)2.41074131
166regulation of sulfur metabolic process (GO:0042762)2.40192522
167regulation of glucocorticoid metabolic process (GO:0031943)2.40154498
168establishment of spindle orientation (GO:0051294)2.39939656
169DNA replication-independent nucleosome organization (GO:0034724)2.39244169
170DNA replication-independent nucleosome assembly (GO:0006336)2.39244169
171forebrain morphogenesis (GO:0048853)2.39060207
172tight junction assembly (GO:0070830)2.37622661
173positive regulation of hormone biosynthetic process (GO:0046886)2.35972298
174gap junction assembly (GO:0016264)2.33916269
175early endosome to late endosome transport (GO:0045022)2.33558446
176glomerular epithelial cell development (GO:0072310)2.33023302
177regulation of sister chromatid cohesion (GO:0007063)2.31751894
178positive regulation of interferon-alpha production (GO:0032727)2.30941966
179adherens junction assembly (GO:0034333)2.29372138
180negative regulation of anoikis (GO:2000811)2.29255699
181glutamine metabolic process (GO:0006541)2.26591704
182IMP biosynthetic process (GO:0006188)2.25730032
183positive regulation of developmental pigmentation (GO:0048087)2.25600539
184sphingosine metabolic process (GO:0006670)2.24624512
185regulation of protein polyubiquitination (GO:1902914)2.24559606
186Golgi organization (GO:0007030)2.24385935
187wound healing, spreading of epidermal cells (GO:0035313)2.24203056
188ER to Golgi vesicle-mediated transport (GO:0006888)2.23527984
189protein localization to cell surface (GO:0034394)2.23001190
190positive regulation of autophagy (GO:0010508)2.22496790
191regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.21604210
192establishment of chromosome localization (GO:0051303)2.19714938
193carnitine shuttle (GO:0006853)2.18674148
194non-recombinational repair (GO:0000726)2.18428159

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.00451056
2TP63_17297297_ChIP-ChIP_HaCaT_Human3.28971387
3GABP_17652178_ChIP-ChIP_JURKAT_Human3.22819423
4* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.07046173
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.89426924
6EZH2_22144423_ChIP-Seq_EOC_Human2.87563306
7EST1_17652178_ChIP-ChIP_JURKAT_Human2.85452873
8RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.84493860
9SMAD_19615063_ChIP-ChIP_OVARY_Human2.82269148
10CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.78343013
11FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.74826469
12GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.66268826
13ETS1_20019798_ChIP-Seq_JURKAT_Human2.60124756
14E2F7_22180533_ChIP-Seq_HELA_Human2.55966988
15NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.49243933
16JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.49158562
17EGR1_19374776_ChIP-ChIP_THP-1_Human2.47963375
18KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.46545746
19WT1_19549856_ChIP-ChIP_CCG9911_Human2.44315832
20SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.36348869
21FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.35183355
22HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.33991585
23E2F4_17652178_ChIP-ChIP_JURKAT_Human2.33270152
24NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.30708549
25TP63_19390658_ChIP-ChIP_HaCaT_Human2.24561964
26HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.15807415
27AR_21909140_ChIP-Seq_LNCAP_Human2.13255191
28TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.12955985
29CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.09796750
30SALL4_18804426_ChIP-ChIP_XEN_Mouse2.09046080
31MYC_18555785_ChIP-Seq_MESCs_Mouse2.08578152
32FUS_26573619_Chip-Seq_HEK293_Human2.07323447
33Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.06174828
34MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.04822032
35SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.03795673
36* PRDM5_23873026_ChIP-Seq_MEFs_Mouse2.01241076
37BMI1_23680149_ChIP-Seq_NPCS_Mouse1.99004194
38CLOCK_20551151_ChIP-Seq_293T_Human1.94428633
39RBPJ_22232070_ChIP-Seq_NCS_Mouse1.94028480
40* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.91602783
41HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.85256407
42FOXM1_23109430_ChIP-Seq_U2OS_Human1.84580771
43BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.84103611
44CREB1_15753290_ChIP-ChIP_HEK293T_Human1.83138884
45SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.80772577
46CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.77673342
47FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.77447441
48MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.77353870
49FLI1_27457419_Chip-Seq_LIVER_Mouse1.76188126
50* VDR_23849224_ChIP-Seq_CD4+_Human1.73935607
51SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.71621276
52FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.70170167
53BRD4_25478319_ChIP-Seq_HGPS_Human1.69685164
54PCGF2_27294783_Chip-Seq_ESCs_Mouse1.65857605
55VDR_22108803_ChIP-Seq_LS180_Human1.57009986
56SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.56816616
57SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.56816616
58NRF2_20460467_ChIP-Seq_MEFs_Mouse1.55821585
59NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.55821585
60ELK1_19687146_ChIP-ChIP_HELA_Human1.55487277
61MYC_19030024_ChIP-ChIP_MESCs_Mouse1.54854055
62CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.54266902
63* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.52927331
64* TP53_16413492_ChIP-PET_HCT116_Human1.52316876
65TFEB_21752829_ChIP-Seq_HELA_Human1.52038464
66POU5F1_16153702_ChIP-ChIP_HESCs_Human1.48605146
67* MYC_19079543_ChIP-ChIP_MESCs_Mouse1.47146208
68FOXO3_23340844_ChIP-Seq_DLD1_Human1.45805258
69TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.44900757
70TTF2_22483619_ChIP-Seq_HELA_Human1.44585956
71CDX2_19796622_ChIP-Seq_MESCs_Mouse1.44476618
72* TP53_18474530_ChIP-ChIP_U2OS_Human1.43497834
73EP300_21415370_ChIP-Seq_HL-1_Mouse1.43323788
74SUZ12_27294783_Chip-Seq_NPCs_Mouse1.42453520
75MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.42104345
76YY1_21170310_ChIP-Seq_MESCs_Mouse1.41724464
77* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.40804625
78ESR1_20079471_ChIP-ChIP_T-47D_Human1.40729981
79GATA1_26923725_Chip-Seq_HPCs_Mouse1.39054641
80FOXM1_26456572_ChIP-Seq_MCF-7_Human1.38379232
81RNF2_27304074_Chip-Seq_NSC_Mouse1.37293751
82POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.33530817
83MYC_18358816_ChIP-ChIP_MESCs_Mouse1.32979646
84PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.32398924
85NFE2_27457419_Chip-Seq_LIVER_Mouse1.31740085
86GBX2_23144817_ChIP-Seq_PC3_Human1.29342920
87THAP11_20581084_ChIP-Seq_MESCs_Mouse1.29278792
88EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.27121206
89* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.26744414
90HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.26701656
91SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.26700115
92CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.25474746
93XRN2_22483619_ChIP-Seq_HELA_Human1.23954960
94CBX2_27304074_Chip-Seq_ESCs_Mouse1.22414257
95NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.21956765
96MYB_21317192_ChIP-Seq_ERMYB_Mouse1.20813085
97AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.20443444
98POU3F2_20337985_ChIP-ChIP_501MEL_Human1.20080536
99ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.18920439
100FOXP3_21729870_ChIP-Seq_TREG_Human1.18300118
101TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.17922492
102KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.17892500
103KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.17892500
104KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.17892500
105MYC_18940864_ChIP-ChIP_HL60_Human1.17779917
106OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17688378
107EWS_26573619_Chip-Seq_HEK293_Human1.17015882
108* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.16599231
109SALL1_21062744_ChIP-ChIP_HESCs_Human1.16067932
110ELK1_22589737_ChIP-Seq_MCF10A_Human1.14046477
111ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.13940692
112SOX17_20123909_ChIP-Seq_XEN_Mouse1.13768327
113NANOG_18555785_Chip-Seq_ESCs_Mouse1.13683502
114NANOG_18555785_ChIP-Seq_MESCs_Mouse1.12940801
115* SRF_21415370_ChIP-Seq_HL-1_Mouse1.12634073
116RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.11797921
117* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.11796157
118* NELFA_20434984_ChIP-Seq_ESCs_Mouse1.11275075
119CJUN_26792858_Chip-Seq_BT549_Human1.10187390
120* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.10094251
121E2F1_18555785_Chip-Seq_ESCs_Mouse1.10086870
122ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.10032638
123CTBP1_25329375_ChIP-Seq_LNCAP_Human1.09558524
124POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.09232014
125GATA2_21666600_ChIP-Seq_HMVEC_Human1.08494000
126GATA1_22025678_ChIP-Seq_K562_Human1.07627009
127ESR1_21235772_ChIP-Seq_MCF-7_Human1.06932432
128EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.06396112
129* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.05788585
130CDX2_22108803_ChIP-Seq_LS180_Human1.05478975
131* ER_23166858_ChIP-Seq_MCF-7_Human1.05264057
132SUZ12_18555785_Chip-Seq_ESCs_Mouse1.04870226
133PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.04854377
134MYCN_18555785_ChIP-Seq_MESCs_Mouse1.04668974
135STAT3_18555785_Chip-Seq_ESCs_Mouse1.03888821
136P300_18555785_Chip-Seq_ESCs_Mouse1.03721164
137PCGF2_27294783_Chip-Seq_NPCs_Mouse1.03476989
138EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.03418699
139TP63_23658742_ChIP-Seq_EP156T_Human1.03365266
140SOX2_27498859_Chip-Seq_STOMACH_Mouse1.02981610
141IRF1_19129219_ChIP-ChIP_H3396_Human1.02273965
142FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.01533416
143PPAR_26484153_Chip-Seq_NCI-H1993_Human1.01523029
144TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.01286433
145PIAS1_25552417_ChIP-Seq_VCAP_Human1.01266214
146NMYC_18555785_Chip-Seq_ESCs_Mouse1.00645276
147GATA4_21415370_ChIP-Seq_HL-1_Mouse1.00125230
148KLF4_18555785_Chip-Seq_ESCs_Mouse0.99862772
149CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.99359274
150KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.99295802
151* CTNNB1_20460455_ChIP-Seq_HCT116_Human0.99127493
152JARID2_20064375_ChIP-Seq_MESCs_Mouse0.98782670
153SOX2_18555785_Chip-Seq_ESCs_Mouse0.97438762
154FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.97409588
155TAF15_26573619_Chip-Seq_HEK293_Human0.97144077
156TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.97008192
157NOTCH1_21737748_ChIP-Seq_TLL_Human0.96580972
158TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.96388048
159* NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.96151067
160ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.96010326
161EZH2_27294783_Chip-Seq_NPCs_Mouse0.95859627
162ZFX_18555785_Chip-Seq_ESCs_Mouse0.95386269
163SOX2_16153702_ChIP-ChIP_HESCs_Human0.95159966
164SOX2_20726797_ChIP-Seq_SW620_Human0.94715234
165SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.94501866
166FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.94456735
167CTBP2_25329375_ChIP-Seq_LNCAP_Human0.94307294
168CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94063423
169CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.93612521
170SOX9_24532713_ChIP-Seq_HFSC_Mouse0.91927080
171P53_22387025_ChIP-Seq_ESCs_Mouse0.91316255
172IGF1R_20145208_ChIP-Seq_DFB_Human0.91214354
173OCT4_18555785_Chip-Seq_ESCs_Mouse0.90981843
174CMYC_18555785_Chip-Seq_ESCs_Mouse0.90445426
175EZH2_27304074_Chip-Seq_ESCs_Mouse0.90327693
176SMAD1_18555785_Chip-Seq_ESCs_Mouse0.90118792
177RUNX1_27457419_Chip-Seq_LIVER_Mouse0.89817704
178KAP1_22055183_ChIP-Seq_ESCs_Mouse0.89135418

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010352_gastrointestinal_tract_polyps3.81219759
2MP0002254_reproductive_system_inflammat3.78985549
3MP0008877_abnormal_DNA_methylation3.56165567
4MP0010234_abnormal_vibrissa_follicle3.53256399
5MP0002877_abnormal_melanocyte_morpholog3.46999456
6MP0000566_synostosis3.40143593
7MP0003880_abnormal_central_pattern2.77307615
8MP0006292_abnormal_olfactory_placode2.60005518
9MP0003693_abnormal_embryo_hatching2.53501165
10MP0001188_hyperpigmentation2.45163531
11MP0008057_abnormal_DNA_replication2.43201330
12MP0004272_abnormal_basement_membrane2.40508110
13MP0005171_absent_coat_pigmentation2.39756089
14MP0003566_abnormal_cell_adhesion2.34459656
15MP0003718_maternal_effect2.28304423
16MP0003111_abnormal_nucleus_morphology2.20061183
17MP0005248_abnormal_Harderian_gland2.17205648
18MP0006054_spinal_hemorrhage2.15281145
19MP0008058_abnormal_DNA_repair2.14251202
20MP0008932_abnormal_embryonic_tissue2.12947709
21MP0003705_abnormal_hypodermis_morpholog2.11163659
22MP0001529_abnormal_vocalization2.10908534
23MP0006276_abnormal_autonomic_nervous2.02811464
24MP0010094_abnormal_chromosome_stability1.93812106
25MP0003195_calcinosis1.88488400
26MP0005423_abnormal_somatic_nervous1.87172298
27MP0001915_intracranial_hemorrhage1.86599043
28MP0008438_abnormal_cutaneous_collagen1.85793239
29MP0001905_abnormal_dopamine_level1.84984199
30MP0009780_abnormal_chondrocyte_physiolo1.83969604
31MP0003221_abnormal_cardiomyocyte_apopto1.82327051
32MP0002102_abnormal_ear_morphology1.81836758
33MP0003091_abnormal_cell_migration1.81468181
34MP0003077_abnormal_cell_cycle1.78266978
35MP0004957_abnormal_blastocyst_morpholog1.75149515
36MP0004270_analgesia1.71543723
37MP0003121_genomic_imprinting1.69010025
38MP0003937_abnormal_limbs/digits/tail_de1.68742598
39MP0003191_abnormal_cellular_cholesterol1.68242477
40MP0003941_abnormal_skin_development1.66882429
41MP0010678_abnormal_skin_adnexa1.64332007
42MP0002009_preneoplasia1.63987715
43MP0002210_abnormal_sex_determination1.63083741
44MP0005409_darkened_coat_color1.62555052
45MP0003938_abnormal_ear_development1.61883074
46MP0001485_abnormal_pinna_reflex1.59536694
47MP0001661_extended_life_span1.59275938
48MP0002160_abnormal_reproductive_system1.59151791
49MP0002277_abnormal_respiratory_mucosa1.58022678
50MP0003300_gastrointestinal_ulcer1.54991995
51MP0005257_abnormal_intraocular_pressure1.54833342
52MP0001486_abnormal_startle_reflex1.52167858
53MP0000762_abnormal_tongue_morphology1.51687142
54MP0001986_abnormal_taste_sensitivity1.51314941
55MP0003136_yellow_coat_color1.49956571
56MP0003786_premature_aging1.44447600
57MP0004381_abnormal_hair_follicle1.44068939
58MP0003122_maternal_imprinting1.38884671
59MP0002734_abnormal_mechanical_nocicepti1.38047354
60MP0001929_abnormal_gametogenesis1.36871021
61MP0000462_abnormal_digestive_system1.36801722
62MP0010307_abnormal_tumor_latency1.36476453
63MP0004233_abnormal_muscle_weight1.35851657
64MP0009697_abnormal_copulation1.34612621
65MP0000749_muscle_degeneration1.31837889
66MP0000653_abnormal_sex_gland1.29597798
67MP0001145_abnormal_male_reproductive1.29195664
68MP0002332_abnormal_exercise_endurance1.28790431
69MP0006072_abnormal_retinal_apoptosis1.28012514
70MP0003890_abnormal_embryonic-extraembry1.27676055
71MP0010386_abnormal_urinary_bladder1.25263692
72MP0009672_abnormal_birth_weight1.24235607
73MP0004133_heterotaxia1.24139897
74MP0005379_endocrine/exocrine_gland_phen1.22626833
75MP0005389_reproductive_system_phenotype1.22540522
76MP0003453_abnormal_keratinocyte_physiol1.21377682
77MP0004142_abnormal_muscle_tone1.21067074
78MP0008995_early_reproductive_senescence1.18965132
79MP0000013_abnormal_adipose_tissue1.18955943
80MP0005408_hypopigmentation1.17540635
81MP0005621_abnormal_cell_physiology1.17142705
82MP0000569_abnormal_digit_pigmentation1.15836725
83MP0002272_abnormal_nervous_system1.15603123
84MP0004036_abnormal_muscle_relaxation1.15466960
85MP0005451_abnormal_body_composition1.13871646
86MP0002163_abnormal_gland_morphology1.13612635
87MP0001346_abnormal_lacrimal_gland1.11797527
88* MP0002269_muscular_atrophy1.11512295
89MP0004185_abnormal_adipocyte_glucose1.11255793
90MP0003698_abnormal_male_reproductive1.10589273
91MP0004782_abnormal_surfactant_physiolog1.09475889
92MP0003755_abnormal_palate_morphology1.09142478
93MP0002896_abnormal_bone_mineralization1.08787791
94MP0001730_embryonic_growth_arrest1.08218978
95MP0004087_abnormal_muscle_fiber1.08167996
96MP0002060_abnormal_skin_morphology1.07010651
97MP0002909_abnormal_adrenal_gland1.06724384
98MP0003984_embryonic_growth_retardation1.06549174
99MP0000858_altered_metastatic_potential1.05775671
100MP0002735_abnormal_chemical_nociception1.05735886
101MP0002088_abnormal_embryonic_growth/wei1.05370959
102MP0000778_abnormal_nervous_system1.04944312
103MP0000747_muscle_weakness1.04300236
104MP0000920_abnormal_myelination1.03957416
105MP0002751_abnormal_autonomic_nervous1.03760767
106MP0005623_abnormal_meninges_morphology1.03056353
107MP0002086_abnormal_extraembryonic_tissu1.02843943
108MP0005380_embryogenesis_phenotype1.02121282
109MP0001672_abnormal_embryogenesis/_devel1.02121282
110MP0004808_abnormal_hematopoietic_stem1.01844167
111MP0001968_abnormal_touch/_nociception1.01611176
112MP0003868_abnormal_feces_composition1.01280729
113MP0008007_abnormal_cellular_replicative1.01144563
114MP0003448_altered_tumor_morphology1.00859059
115MP0000049_abnormal_middle_ear1.00161747
116MP0000579_abnormal_nail_morphology0.99441054
117MP0003123_paternal_imprinting0.99121288
118MP0000350_abnormal_cell_proliferation0.98304075
119MP0005384_cellular_phenotype0.98122784
120MP0001697_abnormal_embryo_size0.97823813
121MP0004197_abnormal_fetal_growth/weight/0.97803926
122* MP0002752_abnormal_somatic_nervous0.97371598
123MP0002090_abnormal_vision0.97362234
124MP0004145_abnormal_muscle_electrophysio0.96651955
125MP0003950_abnormal_plasma_membrane0.96611140
126MP0004084_abnormal_cardiac_muscle0.95885224
127MP0002638_abnormal_pupillary_reflex0.95635864
128MP0003315_abnormal_perineum_morphology0.95376435
129MP0000026_abnormal_inner_ear0.95196091
130MP0002572_abnormal_emotion/affect_behav0.93094675
131MP0008260_abnormal_autophagy0.91602540
132MP0005645_abnormal_hypothalamus_physiol0.90787248
133MP0005501_abnormal_skin_physiology0.90722882
134MP0000627_abnormal_mammary_gland0.90184405
135MP0003656_abnormal_erythrocyte_physiolo0.89265424
136MP0002796_impaired_skin_barrier0.89026374
137MP0002697_abnormal_eye_size0.88722228
138MP0001440_abnormal_grooming_behavior0.88673660
139MP0000358_abnormal_cell_content/0.88302696
140MP0001963_abnormal_hearing_physiology0.88272651
141MP0001970_abnormal_pain_threshold0.88066897
142MP0003828_pulmonary_edema0.87975843
143MP0005330_cardiomyopathy0.87728493
144MP0009379_abnormal_foot_pigmentation0.87432051
145MP0002184_abnormal_innervation0.87278854
146MP0002084_abnormal_developmental_patter0.87078296
147MP0003635_abnormal_synaptic_transmissio0.86698061
148MP0002006_tumorigenesis0.85218198
149MP0009745_abnormal_behavioral_response0.84976113
150MP0002736_abnormal_nociception_after0.84601398
151MP0005395_other_phenotype0.84239199
152MP0000767_abnormal_smooth_muscle0.83326474
153MP0009703_decreased_birth_body0.83188134
154MP0002092_abnormal_eye_morphology0.83025872
155MP0004264_abnormal_extraembryonic_tissu0.82312054
156MP0002971_abnormal_brown_adipose0.81885430
157MP0003787_abnormal_imprinting0.81282757
158MP0002972_abnormal_cardiac_muscle0.80315818
159MP0009046_muscle_twitch0.79775377
160MP0010630_abnormal_cardiac_muscle0.79594590
161MP0000733_abnormal_muscle_development0.79526037
162MP0001293_anophthalmia0.79384264
163MP0000678_abnormal_parathyroid_gland0.77814426
164MP0000751_myopathy0.77792178
165MP0002111_abnormal_tail_morphology0.77675278
166MP0001191_abnormal_skin_condition0.77446466
167MP0001119_abnormal_female_reproductive0.77293537
168MP0005193_abnormal_anterior_eye0.77275316
169MP0001727_abnormal_embryo_implantation0.77090057
170MP0002080_prenatal_lethality0.76603799
171MP0002064_seizures0.76375961
172MP0005551_abnormal_eye_electrophysiolog0.76348219
173MP0000432_abnormal_head_morphology0.75501855
174MP0001919_abnormal_reproductive_system0.75352209
175MP0003861_abnormal_nervous_system0.74936764
176MP0002168_other_aberrant_phenotype0.74405466
177MP0002876_abnormal_thyroid_physiology0.73854267
178MP0002882_abnormal_neuron_morphology0.73710210
179MP0002938_white_spotting0.73564724
180MP0000631_abnormal_neuroendocrine_gland0.73349747
181MP0003936_abnormal_reproductive_system0.73096422
182MP0000955_abnormal_spinal_cord0.73034301
183MP0009840_abnormal_foam_cell0.72736831
184MP0002085_abnormal_embryonic_tissue0.72498826
185MP0002166_altered_tumor_susceptibility0.72471792
186MP0001849_ear_inflammation0.72167735
187MP0002114_abnormal_axial_skeleton0.71996427
188MP0001299_abnormal_eye_distance/0.71586500
189MP0000428_abnormal_craniofacial_morphol0.71388342
190MP0001542_abnormal_bone_strength0.71284228

Predicted human phenotypes

RankGene SetZ-score
1Papillary thyroid carcinoma (HP:0002895)4.37651838
2Tetraparesis (HP:0002273)4.28309909
3Breast hypoplasia (HP:0003187)4.26625861
4Chromosomal breakage induced by crosslinking agents (HP:0003221)4.02074652
5Cerebral hypomyelination (HP:0006808)3.93673973
6Chromsome breakage (HP:0040012)3.89023108
7Birth length less than 3rd percentile (HP:0003561)3.81860248
8Nemaline bodies (HP:0003798)3.69870463
9Exercise-induced muscle cramps (HP:0003710)3.60558065
10Hypoglycemic seizures (HP:0002173)3.52653409
11Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.47829623
12Muscle fiber inclusion bodies (HP:0100299)3.47798218
13Aplasia/Hypoplasia of the earlobes (HP:0009906)3.32413242
14Duplicated collecting system (HP:0000081)3.31838308
15Absent radius (HP:0003974)3.20745019
16Thyroid carcinoma (HP:0002890)3.14563750
17Aplasia involving forearm bones (HP:0009822)3.08751249
18Absent forearm bone (HP:0003953)3.08751249
19Hypoglycemic coma (HP:0001325)3.03818769
20Parakeratosis (HP:0001036)3.03335665
21Fetal akinesia sequence (HP:0001989)3.02872239
22Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.01903414
23Abnormality of the renal collecting system (HP:0004742)2.98123070
24Cutaneous melanoma (HP:0012056)2.96313581
25* Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.93698556
26Stomach cancer (HP:0012126)2.91546771
27Insidious onset (HP:0003587)2.91369717
28Termporal pattern (HP:0011008)2.91369717
29Carpal bone hypoplasia (HP:0001498)2.88392337
30Asymmetry of the thorax (HP:0001555)2.88081784
31Subaortic stenosis (HP:0001682)2.87528534
32Abnormality of the left ventricular outflow tract (HP:0011103)2.87528534
33Subacute progressive viral hepatitis (HP:0006572)2.84102434
34Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.80487923
35Biliary tract neoplasm (HP:0100574)2.73597214
36Arterial tortuosity (HP:0005116)2.71615576
37Transitional cell carcinoma of the bladder (HP:0006740)2.70288804
38Hyperinsulinemic hypoglycemia (HP:0000825)2.69638281
39Aplasia/hypoplasia of the uterus (HP:0008684)2.68177461
40Bladder neoplasm (HP:0009725)2.66207892
41Bladder carcinoma (HP:0002862)2.66207892
42Symptomatic seizures (HP:0011145)2.65889547
43Gastrointestinal carcinoma (HP:0002672)2.64950914
44Malignant gastrointestinal tract tumors (HP:0006749)2.64950914
45Conical tooth (HP:0000698)2.59885990
46* Progressive external ophthalmoplegia (HP:0000590)2.55549517
47Hereditary nonpolyposis colorectal carcinoma (HP:0006716)2.51876188
48Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.51632935
49Entropion (HP:0000621)2.51524743
50Type 1 muscle fiber predominance (HP:0003803)2.51452463
51Vertebral arch anomaly (HP:0008438)2.51327689
52Meckel diverticulum (HP:0002245)2.51024758
53Adrenal hypoplasia (HP:0000835)2.50049864
54Abnormality of the labia minora (HP:0012880)2.49640447
55Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.48203945
56Aplasia/Hypoplasia involving the musculature (HP:0001460)2.47528573
57Pancreatic islet-cell hyperplasia (HP:0004510)2.46670903
58Uterine neoplasm (HP:0010784)2.45937951
59Spastic diplegia (HP:0001264)2.43966350
60Leiomyosarcoma (HP:0100243)2.42266260
61Uterine leiomyosarcoma (HP:0002891)2.42266260
62Absent frontal sinuses (HP:0002688)2.41162432
63Abnormality of the septum pellucidum (HP:0007375)2.40891965
64Patellar aplasia (HP:0006443)2.38707771
65Horseshoe kidney (HP:0000085)2.37747764
66Renal Fanconi syndrome (HP:0001994)2.33823379
67Premature rupture of membranes (HP:0001788)2.33254237
68Abnormality of the preputium (HP:0100587)2.33170017
69Vascular tortuosity (HP:0004948)2.31522395
70Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.31325906
71Ectopic kidney (HP:0000086)2.31203774
72Acute necrotizing encephalopathy (HP:0006965)2.30231225
73Abnormality of the ileum (HP:0001549)2.27519011
74Neoplasm of the adrenal gland (HP:0100631)2.26893679
75Aplasia/Hypoplasia of the patella (HP:0006498)2.26217891
76Pancreatic cysts (HP:0001737)2.25141845
77Abnormality of incisor morphology (HP:0011063)2.23626042
78Hyporeflexia of lower limbs (HP:0002600)2.22672385
79Supernumerary spleens (HP:0009799)2.22042703
80Bundle branch block (HP:0011710)2.19850722
81Breast carcinoma (HP:0003002)2.19376583
82Spinal cord lesions (HP:0100561)2.18701072
83Syringomyelia (HP:0003396)2.18701072
84Ankyloglossia (HP:0010296)2.18259582
85Increased hepatocellular lipid droplets (HP:0006565)2.17936336
86Disinhibition (HP:0000734)2.17299027
87Absent septum pellucidum (HP:0001331)2.17298998
88Neoplasm of the thyroid gland (HP:0100031)2.16959006
89Mitochondrial inheritance (HP:0001427)2.16363181
90CNS hypomyelination (HP:0003429)2.16338544
91Osteolytic defects of the phalanges of the hand (HP:0009771)2.14751698
92Osteolytic defects of the hand bones (HP:0009699)2.14751698
93Abnormality of the pancreatic islet cells (HP:0006476)2.13175593
94Abnormality of endocrine pancreas physiology (HP:0012093)2.13175593
95Abnormality of oral frenula (HP:0000190)2.13066019
96Granulocytopenia (HP:0001913)2.13004111
97Septo-optic dysplasia (HP:0100842)2.12905173
98Nephroblastoma (Wilms tumor) (HP:0002667)2.11917299
993-Methylglutaconic aciduria (HP:0003535)2.11704476
100Hepatocellular necrosis (HP:0001404)2.11509528
101Reticulocytopenia (HP:0001896)2.11495476
102Triphalangeal thumb (HP:0001199)2.10861577
103Abnormality of chromosome stability (HP:0003220)2.09363443
104Hematochezia (HP:0002573)2.08422124
105Aplasia/Hypoplasia of the uvula (HP:0010293)2.06608028
106Curly hair (HP:0002212)2.06333943
107Embryonal renal neoplasm (HP:0011794)2.05809738
108Difficulty running (HP:0009046)2.04873637
109Neoplasm of the small intestine (HP:0100833)2.02948420
110Exertional dyspnea (HP:0002875)2.02371314
111Mitral stenosis (HP:0001718)2.02197115
112Myocardial infarction (HP:0001658)2.01347513
113Dysmetric saccades (HP:0000641)1.99717824
114Pancreatic fibrosis (HP:0100732)1.99190258
115Aplasia/Hypoplasia of the tibia (HP:0005772)1.98819310
116Congenital sensorineural hearing impairment (HP:0008527)1.98277001
117Increased connective tissue (HP:0009025)1.97853317
118Abnormality of the common coagulation pathway (HP:0010990)1.97825502
119Nasolacrimal duct obstruction (HP:0000579)1.97595461
120Microglossia (HP:0000171)1.96677495
121Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.96481312
122* External ophthalmoplegia (HP:0000544)1.94892812
123Popliteal pterygium (HP:0009756)1.94756316
124Pheochromocytoma (HP:0002666)1.94506084
125Esophageal varix (HP:0002040)1.92348427
126Orthostatic hypotension (HP:0001278)1.92123874
127Type 2 muscle fiber atrophy (HP:0003554)1.92068103
128Abnormal spermatogenesis (HP:0008669)1.91526521
129Hypoplasia of the uterus (HP:0000013)1.90966526
130Resting tremor (HP:0002322)1.90882841
131Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.90708742
132Abnormal biliary tract morphology (HP:0012440)1.90668839
133Oligodactyly (HP:0012165)1.89767702
134Micronodular cirrhosis (HP:0001413)1.89751272
135Azoospermia (HP:0000027)1.88574276
136Short tibia (HP:0005736)1.86913377
137Aplasia/Hypoplasia of the breasts (HP:0010311)1.86802907
138Cleft eyelid (HP:0000625)1.86737987
139Breast aplasia (HP:0100783)1.86736814
140Hyperphosphatemia (HP:0002905)1.86658977
141Hyperglycemia (HP:0003074)1.86451232
142Renal agenesis (HP:0000104)1.86397963
143Fibular aplasia (HP:0002990)1.85784685
144Attenuation of retinal blood vessels (HP:0007843)1.85757331
145Renal cell carcinoma (HP:0005584)1.84818532
146Apathy (HP:0000741)1.84628492
147Premature graying of hair (HP:0002216)1.84189422
148Supernumerary bones of the axial skeleton (HP:0009144)1.83991798
149Macrocytic anemia (HP:0001972)1.83595521
150Absent thumb (HP:0009777)1.82125737
151Obstructive sleep apnea (HP:0002870)1.81960103
152Abnormality of skeletal muscle fiber size (HP:0012084)1.81704135
153EMG: myopathic abnormalities (HP:0003458)1.81426897
154Progressive macrocephaly (HP:0004481)1.81147387
155Secondary amenorrhea (HP:0000869)1.81103575
156Neoplasm of the rectum (HP:0100743)1.81098573
157Ependymoma (HP:0002888)1.80732299
158Abnormal mitochondria in muscle tissue (HP:0008316)1.76953095
159Prolonged neonatal jaundice (HP:0006579)1.76878991
160Abnormality of renal resorption (HP:0011038)1.76626854
161Exercise-induced myalgia (HP:0003738)1.73382879
162Progressive muscle weakness (HP:0003323)1.73329668
163Stenosis of the external auditory canal (HP:0000402)1.72731813
164Morphological abnormality of the inner ear (HP:0011390)1.71968655
165Cystic hygroma (HP:0000476)1.71674552
166Rhabdomyosarcoma (HP:0002859)1.71467760
167Rib fusion (HP:0000902)1.70906687
168Neoplasm of the adrenal cortex (HP:0100641)1.70886561
169Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.70884078
170Menstrual irregularities (HP:0000858)1.70578948
171Genital tract atresia (HP:0001827)1.70214225
172Sensory axonal neuropathy (HP:0003390)1.69837882
173Amniotic constriction ring (HP:0009775)1.69720529
174Abnormality of placental membranes (HP:0011409)1.69720529
175Aplasia/Hypoplasia of the ulna (HP:0006495)1.69712767
176Intrahepatic cholestasis (HP:0001406)1.69565409
177Premature ovarian failure (HP:0008209)1.69522569
178Spinal rigidity (HP:0003306)1.69511497
179Aplasia of the musculature (HP:0100854)1.68722887
180Rough bone trabeculation (HP:0100670)1.68339562
181Hypokinesia (HP:0002375)1.68167769
182Abnormal lung lobation (HP:0002101)1.68126107
183Increased serum lactate (HP:0002151)1.67527910
184Glucose intolerance (HP:0000833)1.67139292
185Vertebral compression fractures (HP:0002953)1.66766817
186Barrel-shaped chest (HP:0001552)1.66390837
187Neoplasm of the peripheral nervous system (HP:0100007)1.65695052
188Lipid accumulation in hepatocytes (HP:0006561)1.64895004
189Optic disc pallor (HP:0000543)1.64525923
190Small epiphyses (HP:0010585)1.64516083
191Increased variability in muscle fiber diameter (HP:0003557)1.63529526
192Melanoma (HP:0002861)1.63382951
193Abnormality of the intrinsic pathway (HP:0010989)1.63340067
194Congenital cataract (HP:0000519)1.63306065
195Back pain (HP:0003418)1.62787988
196Capillary hemangiomas (HP:0005306)1.61250448
197Hepatoblastoma (HP:0002884)1.61148026
198Medulloblastoma (HP:0002885)1.60509571

Predicted kinase interactions (KEA)

RankGene SetZ-score
1IRAK36.24927954
2NEK14.93738881
3PLK44.85888874
4MARK13.83648721
5ZAK3.47018912
6IRAK23.42109278
7BUB13.40468505
8IRAK43.13530731
9SCYL22.85115439
10LATS22.71402259
11IRAK12.69350285
12STK32.42804207
13STK162.42358803
14STK242.40021004
15TTN2.19599333
16TTK2.12843755
17ERBB32.06432055
18STK38L2.01611002
19NEK91.98944666
20SRPK11.93550201
21TRIM281.88682292
22YES11.86097024
23CDK61.85653501
24PDGFRA1.79487929
25EIF2AK11.78850851
26MAP3K121.69155100
27STK391.67510487
28OBSCN1.64091066
29PAK41.54922104
30TESK21.45605195
31TNIK1.42418878
32PNCK1.38274147
33MET1.33996990
34PBK1.33178829
35TAF11.32351582
36CDC71.30770224
37OXSR11.29077383
38EIF2AK31.28478842
39DYRK21.27651391
40VRK11.26788306
41TLK11.25199646
42PLK31.24507176
43FGFR41.20462821
44LATS11.16142282
45SIK31.16030461
46ERBB41.15194031
47FGFR31.13841741
48BMPR1B1.13278378
49NME11.11160710
50WEE11.10408281
51CHEK21.09202704
52KSR11.06757342
53KSR21.05327437
54PLK11.02532970
55EPHA21.01685088
56PIM20.97024056
57EEF2K0.94650061
58FER0.93503042
59TIE10.91095539
60MAP3K140.89364608
61MAP3K20.89358958
62NEK60.88931016
63CAMK2B0.88535684
64MAP3K50.87074712
65PTK20.86140063
66MUSK0.85744816
67CASK0.85134738
68PRKCI0.85070854
69BRSK20.82378763
70BRAF0.82304057
71ALK0.82207198
72TRPM70.80407765
73TSSK60.78769467
74PKN10.78685603
75BCR0.78361321
76CDK80.77759650
77FGFR10.76217438
78JAK10.74429022
79CDC42BPA0.73310689
80MST40.72873774
81EPHB10.71976211
82MAP2K70.70918707
83DYRK30.69847372
84CAMK2D0.67922935
85MKNK20.66828542
86MST1R0.66491414
87FGR0.66267280
88ATR0.65788706
89BMPR20.65357595
90ABL20.65334462
91RPS6KB10.65279325
92PLK20.64078557
93BRD40.63155893
94PDGFRB0.61432868
95NTRK10.60798270
96CDK190.60083352
97MAPK130.59042630
98MAP3K130.58112073
99TYK20.57050875
100CAMK2G0.56786451
101DAPK30.56594566
102AURKA0.56477720
103PAK20.55187682
104EGFR0.54426068
105SGK30.54050415
106TGFBR20.53662514
107LIMK10.53610586
108ROCK20.53602253
109AKT30.52483296
110ARAF0.51740937
111EIF2AK20.51408664
112MAP3K60.51193973
113CLK10.49696720
114CHEK10.49345255
115CDK120.48806150
116MAP3K80.47817445
117MKNK10.47550028
118RPS6KA50.47523294
119NLK0.46698805
120ACVR1B0.45543228
121MAPKAPK50.45013398
122PIK3CG0.43466354
123EPHA40.43261121
124MOS0.42394162
125CSNK1G30.41862687
126STK380.41845927
127BRSK10.41638044
128NTRK30.41341855
129AURKB0.40779268
130RPS6KB20.39123708
131CDK30.37919053
132PHKG20.37753044
133PHKG10.37753044
134SMG10.37095740
135CAMK2A0.37034495
136MAP3K10.35799011
137PINK10.34885907
138WNK10.34422896
139CSNK1E0.34291957
140CSNK1G10.34279471
141MAPK70.34073758
142FGFR20.33812931
143AKT20.33519674
144MELK0.33507717
145CSNK1A1L0.32441490
146CSNK1G20.31971296
147GRK10.31565254
148MARK20.31047594
149CDK10.30185636
150* ATM0.29711002
151DYRK1B0.29027876
152PRKCE0.28777990
153PASK0.26945602
154MAP3K40.26718494
155NEK20.25737658
156STK100.25727714
157MAP3K90.24742794
158STK40.23735850
159PRKD20.23641768
160CDK70.23183006
161DYRK1A0.23131249
162ADRBK20.23119935
163CSNK2A10.22763002

Predicted pathways (KEGG)

RankGene SetZ-score
1RNA polymerase_Homo sapiens_hsa030204.28463826
2Fanconi anemia pathway_Homo sapiens_hsa034603.32724091
3Proteasome_Homo sapiens_hsa030503.07968492
4Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.00202734
5Homologous recombination_Homo sapiens_hsa034402.99343254
6Ribosome_Homo sapiens_hsa030102.98683188
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.88579862
8Oxidative phosphorylation_Homo sapiens_hsa001902.75298607
9Basal transcription factors_Homo sapiens_hsa030222.68346591
10DNA replication_Homo sapiens_hsa030302.67498562
11Mismatch repair_Homo sapiens_hsa034302.45227517
12Parkinsons disease_Homo sapiens_hsa050122.27744665
13Spliceosome_Homo sapiens_hsa030402.25846901
14Thyroid cancer_Homo sapiens_hsa052162.15649481
15Huntingtons disease_Homo sapiens_hsa050162.12821079
16* Pyrimidine metabolism_Homo sapiens_hsa002402.01963993
17Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.92822754
18Adherens junction_Homo sapiens_hsa045201.90455280
19Nucleotide excision repair_Homo sapiens_hsa034201.84490246
20RNA degradation_Homo sapiens_hsa030181.83107402
21Protein export_Homo sapiens_hsa030601.80167062
22Cell cycle_Homo sapiens_hsa041101.79849872
23Propanoate metabolism_Homo sapiens_hsa006401.78244744
24Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.76308609
25RNA transport_Homo sapiens_hsa030131.74548542
26Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.73225154
27Alzheimers disease_Homo sapiens_hsa050101.72563882
28Non-homologous end-joining_Homo sapiens_hsa034501.70965113
29Proteoglycans in cancer_Homo sapiens_hsa052051.67872471
30Selenocompound metabolism_Homo sapiens_hsa004501.65972645
31Ether lipid metabolism_Homo sapiens_hsa005651.57281903
32Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.50508375
33Sphingolipid metabolism_Homo sapiens_hsa006001.44151293
34* Purine metabolism_Homo sapiens_hsa002301.41515972
35Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.41094593
36Base excision repair_Homo sapiens_hsa034101.34509536
37Prostate cancer_Homo sapiens_hsa052151.31287353
38Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.30913359
39Phototransduction_Homo sapiens_hsa047441.26627920
40Fatty acid metabolism_Homo sapiens_hsa012121.24584807
41Chronic myeloid leukemia_Homo sapiens_hsa052201.23052688
42Pyruvate metabolism_Homo sapiens_hsa006201.22838556
43Carbon metabolism_Homo sapiens_hsa012001.21551524
44Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.21385630
45Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.21262397
46Legionellosis_Homo sapiens_hsa051341.20131250
47Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.18131876
482-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.17275291
49Nicotine addiction_Homo sapiens_hsa050331.17122101
50Endometrial cancer_Homo sapiens_hsa052131.16632026
51Sulfur metabolism_Homo sapiens_hsa009201.16146303
52Inositol phosphate metabolism_Homo sapiens_hsa005621.15626328
53Bladder cancer_Homo sapiens_hsa052191.15445259
54Focal adhesion_Homo sapiens_hsa045101.13547410
55Linoleic acid metabolism_Homo sapiens_hsa005911.11611137
56SNARE interactions in vesicular transport_Homo sapiens_hsa041301.10911603
57Small cell lung cancer_Homo sapiens_hsa052221.09118438
58AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.05390816
59Lysosome_Homo sapiens_hsa041421.04198270
60Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.03566311
61Insulin signaling pathway_Homo sapiens_hsa049101.02667138
62Oocyte meiosis_Homo sapiens_hsa041141.02384167
63Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.02154710
64Circadian rhythm_Homo sapiens_hsa047101.01989967
65Central carbon metabolism in cancer_Homo sapiens_hsa052301.00373047
66Cardiac muscle contraction_Homo sapiens_hsa042601.00143831
67Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.99588522
68* p53 signaling pathway_Homo sapiens_hsa041150.98982817
69Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.98838717
70Epstein-Barr virus infection_Homo sapiens_hsa051690.97662509
71FoxO signaling pathway_Homo sapiens_hsa040680.97596154
72Serotonergic synapse_Homo sapiens_hsa047260.95494612
73Fatty acid biosynthesis_Homo sapiens_hsa000610.95454654
74Glioma_Homo sapiens_hsa052140.93697299
75Cysteine and methionine metabolism_Homo sapiens_hsa002700.92714276
76Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.92596081
77Prolactin signaling pathway_Homo sapiens_hsa049170.92523655
78Hepatitis C_Homo sapiens_hsa051600.92224570
79mRNA surveillance pathway_Homo sapiens_hsa030150.92085628
80Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.91231492
81Arachidonic acid metabolism_Homo sapiens_hsa005900.89190192
82Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.87398820
83Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.87179877
84Leukocyte transendothelial migration_Homo sapiens_hsa046700.86639764
85Vitamin B6 metabolism_Homo sapiens_hsa007500.86470559
86Pancreatic cancer_Homo sapiens_hsa052120.86089138
87Insulin resistance_Homo sapiens_hsa049310.83959066
88Axon guidance_Homo sapiens_hsa043600.78814825
89Fatty acid degradation_Homo sapiens_hsa000710.78263507
90alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.78053950
91Pentose phosphate pathway_Homo sapiens_hsa000300.77920916
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.77792116
93mTOR signaling pathway_Homo sapiens_hsa041500.77369119
94Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.76335566
95Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.74141709
96Hepatitis B_Homo sapiens_hsa051610.73708517
97Non-small cell lung cancer_Homo sapiens_hsa052230.72630045
98Longevity regulating pathway - mammal_Homo sapiens_hsa042110.69192092
99Glutamatergic synapse_Homo sapiens_hsa047240.68932991
100Viral carcinogenesis_Homo sapiens_hsa052030.68309843
101Collecting duct acid secretion_Homo sapiens_hsa049660.68026539
102Dorso-ventral axis formation_Homo sapiens_hsa043200.67222532
103ECM-receptor interaction_Homo sapiens_hsa045120.67188179
104HIF-1 signaling pathway_Homo sapiens_hsa040660.66595235
105ErbB signaling pathway_Homo sapiens_hsa040120.66457409
106Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.65718396
107Amoebiasis_Homo sapiens_hsa051460.65292938
108Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.63060084
109Measles_Homo sapiens_hsa051620.62772691
110Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.60801921
111Galactose metabolism_Homo sapiens_hsa000520.60558066
112AMPK signaling pathway_Homo sapiens_hsa041520.60175212
113Thyroid hormone signaling pathway_Homo sapiens_hsa049190.60037685
114Long-term depression_Homo sapiens_hsa047300.59988757
115Taste transduction_Homo sapiens_hsa047420.59392289
116Hedgehog signaling pathway_Homo sapiens_hsa043400.58179805
117Starch and sucrose metabolism_Homo sapiens_hsa005000.58028392
118Colorectal cancer_Homo sapiens_hsa052100.57951958
119Phosphatidylinositol signaling system_Homo sapiens_hsa040700.57629540
120PI3K-Akt signaling pathway_Homo sapiens_hsa041510.57378883
121Fatty acid elongation_Homo sapiens_hsa000620.57083891
122Shigellosis_Homo sapiens_hsa051310.53566368
123Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.53470248
124Ras signaling pathway_Homo sapiens_hsa040140.51049627
125Wnt signaling pathway_Homo sapiens_hsa043100.50329722
126Maturity onset diabetes of the young_Homo sapiens_hsa049500.49820842
127Regulation of autophagy_Homo sapiens_hsa041400.49617702
128Glycosaminoglycan degradation_Homo sapiens_hsa005310.49247296
129Biosynthesis of amino acids_Homo sapiens_hsa012300.48961522
130Morphine addiction_Homo sapiens_hsa050320.48601887
131Ovarian steroidogenesis_Homo sapiens_hsa049130.48283433
132Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.48001399
133Glucagon signaling pathway_Homo sapiens_hsa049220.47677467
134Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.46967455
135Complement and coagulation cascades_Homo sapiens_hsa046100.46642515
136Autoimmune thyroid disease_Homo sapiens_hsa053200.44483122
137Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.40938994
138Steroid biosynthesis_Homo sapiens_hsa001000.40592640
139* Metabolic pathways_Homo sapiens_hsa011000.39942067
140Sphingolipid signaling pathway_Homo sapiens_hsa040710.39894017
141Amphetamine addiction_Homo sapiens_hsa050310.39770154
142One carbon pool by folate_Homo sapiens_hsa006700.39345768
143TGF-beta signaling pathway_Homo sapiens_hsa043500.38997794
144Alcoholism_Homo sapiens_hsa050340.38338774
145Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.36883069
146Primary immunodeficiency_Homo sapiens_hsa053400.36582963
147Vibrio cholerae infection_Homo sapiens_hsa051100.36577774
148Basal cell carcinoma_Homo sapiens_hsa052170.35932740
149Systemic lupus erythematosus_Homo sapiens_hsa053220.35902345
150GABAergic synapse_Homo sapiens_hsa047270.35413051
151Tight junction_Homo sapiens_hsa045300.34483741
152Melanoma_Homo sapiens_hsa052180.34176434
153Synaptic vesicle cycle_Homo sapiens_hsa047210.33955514
154Glycerophospholipid metabolism_Homo sapiens_hsa005640.33785901
155Hippo signaling pathway_Homo sapiens_hsa043900.33396974
156Renin-angiotensin system_Homo sapiens_hsa046140.31810545
157Vascular smooth muscle contraction_Homo sapiens_hsa042700.30612530
158Calcium signaling pathway_Homo sapiens_hsa040200.30210576
159Renal cell carcinoma_Homo sapiens_hsa052110.30159150
160Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.29897488
161Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.29609455
162Cholinergic synapse_Homo sapiens_hsa047250.26471116
163Arginine and proline metabolism_Homo sapiens_hsa003300.26110555
164NF-kappa B signaling pathway_Homo sapiens_hsa040640.25726435
165Choline metabolism in cancer_Homo sapiens_hsa052310.25270065
166Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.22474817
167Dopaminergic synapse_Homo sapiens_hsa047280.22396322
168Long-term potentiation_Homo sapiens_hsa047200.22354576
169Other glycan degradation_Homo sapiens_hsa005110.22281537
170Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.21071790
171MicroRNAs in cancer_Homo sapiens_hsa052060.20789177
172Rheumatoid arthritis_Homo sapiens_hsa053230.20013740
173Regulation of actin cytoskeleton_Homo sapiens_hsa048100.19720956
174Melanogenesis_Homo sapiens_hsa049160.18899683

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