DPH1

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





Description: The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)5.77819110
2purine nucleobase biosynthetic process (GO:0009113)5.06983034
3nucleobase biosynthetic process (GO:0046112)5.05839497
4DNA deamination (GO:0045006)4.66336530
5formation of translation preinitiation complex (GO:0001731)4.53903080
6folic acid metabolic process (GO:0046655)4.49493176
7folic acid-containing compound biosynthetic process (GO:0009396)4.37389623
8mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.31659035
9mitochondrial respiratory chain complex I assembly (GO:0032981)4.31659035
10NADH dehydrogenase complex assembly (GO:0010257)4.31659035
11negative regulation of mast cell activation (GO:0033004)4.24599116
12glycine metabolic process (GO:0006544)4.19869928
13iron-sulfur cluster assembly (GO:0016226)4.19478767
14metallo-sulfur cluster assembly (GO:0031163)4.19478767
15ribosome biogenesis (GO:0042254)4.04751186
16IMP biosynthetic process (GO:0006188)4.02285217
17ubiquinone biosynthetic process (GO:0006744)4.00533724
18response to misfolded protein (GO:0051788)3.98359258
19L-serine metabolic process (GO:0006563)3.97456057
20DNA strand elongation involved in DNA replication (GO:0006271)3.96583802
21protein complex biogenesis (GO:0070271)3.95998705
22telomere maintenance via semi-conservative replication (GO:0032201)3.94725298
23preassembly of GPI anchor in ER membrane (GO:0016254)3.94498417
24DNA strand elongation (GO:0022616)3.81818327
25proteasome assembly (GO:0043248)3.81714792
26serine family amino acid biosynthetic process (GO:0009070)3.76483903
27misfolded or incompletely synthesized protein catabolic process (GO:0006515)3.75235506
28negative regulation of telomere maintenance (GO:0032205)3.75152043
29DNA replication initiation (GO:0006270)3.74715396
30maturation of SSU-rRNA (GO:0030490)3.73324663
31mitochondrial respiratory chain complex assembly (GO:0033108)3.69511638
32ribosome assembly (GO:0042255)3.66940681
33negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.65844723
34ribosomal small subunit assembly (GO:0000028)3.64841002
35L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.57494181
36L-methionine salvage (GO:0071267)3.55320229
37L-methionine biosynthetic process (GO:0071265)3.55320229
38amino acid salvage (GO:0043102)3.55320229
39positive regulation of CREB transcription factor activity (GO:0032793)3.55237495
40cellular response to ATP (GO:0071318)3.54814432
41cellular response to exogenous dsRNA (GO:0071360)3.53355823
42pteridine-containing compound biosynthetic process (GO:0042559)3.52254134
43negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)3.51878554
44mitotic cell cycle arrest (GO:0071850)3.50646371
45pseudouridine synthesis (GO:0001522)3.47412387
46positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.46584226
47regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.44688526
48ribosomal small subunit biogenesis (GO:0042274)3.43858729
49tRNA modification (GO:0006400)3.43612994
50regulation of cytokine production involved in inflammatory response (GO:1900015)3.43435907
51ribonucleoprotein complex biogenesis (GO:0022613)3.42649573
52negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)3.42175579
53negative regulation of DNA-templated transcription, elongation (GO:0032785)3.42175579
54IMP metabolic process (GO:0046040)3.38559472
55positive regulation of histone deacetylation (GO:0031065)3.38064431
56nephron tubule morphogenesis (GO:0072078)3.37294543
57nephron epithelium morphogenesis (GO:0072088)3.37294543
58protein import into peroxisome matrix (GO:0016558)3.36273122
59ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043163.34976434
60negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.34920616
61negative regulation of ligase activity (GO:0051352)3.34920616
62telomere maintenance via recombination (GO:0000722)3.34220495
63folic acid-containing compound metabolic process (GO:0006760)3.32283416
64anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.32107708
65tetrahydrofolate metabolic process (GO:0046653)3.31673339
66deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.31316989
67ubiquinone metabolic process (GO:0006743)3.30458575
68mannosylation (GO:0097502)3.27818229
69cellular ketone body metabolic process (GO:0046950)3.27554260
70phosphatidylglycerol biosynthetic process (GO:0006655)3.23226576
71positive regulation of phosphoprotein phosphatase activity (GO:0032516)3.22339157
72spliceosomal snRNP assembly (GO:0000387)3.18335994
73positive regulation of fatty acid transport (GO:2000193)3.16113833
74nucleoside salvage (GO:0043174)3.13416454
75negative regulation of reactive oxygen species metabolic process (GO:2000378)3.13146496
76regulation of cellular amino acid metabolic process (GO:0006521)3.12765961
77kynurenine metabolic process (GO:0070189)3.12185732
78serine family amino acid metabolic process (GO:0009069)3.12118980
79termination of RNA polymerase III transcription (GO:0006386)3.11823599
80transcription elongation from RNA polymerase III promoter (GO:0006385)3.11823599
81methionine biosynthetic process (GO:0009086)3.10291657
82pteridine-containing compound metabolic process (GO:0042558)3.09376221
83signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.08572984
84intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.08572984
85DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.07385720
86quinone biosynthetic process (GO:1901663)3.06511184
87mitochondrial RNA metabolic process (GO:0000959)3.06333123
88telomere maintenance via telomere lengthening (GO:0010833)3.05932820
89signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.05513279
90signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.05513279
91signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.05513279
92maturation of 5.8S rRNA (GO:0000460)3.04461754
93energy coupled proton transport, down electrochemical gradient (GO:0015985)3.04334887
94ATP synthesis coupled proton transport (GO:0015986)3.04334887
95methionine metabolic process (GO:0006555)3.04157671
96ribosomal large subunit biogenesis (GO:0042273)3.04100455
97rRNA processing (GO:0006364)3.03021458
98positive regulation of prostaglandin secretion (GO:0032308)3.01045275
99sulfur amino acid biosynthetic process (GO:0000097)2.99013548
100DNA unwinding involved in DNA replication (GO:0006268)2.98843951
101tRNA methylation (GO:0030488)2.98765223
102rRNA modification (GO:0000154)2.98678886
103cullin deneddylation (GO:0010388)2.98467235
104signal transduction involved in DNA integrity checkpoint (GO:0072401)2.98169404
105signal transduction involved in DNA damage checkpoint (GO:0072422)2.98169404
106mitotic nuclear envelope disassembly (GO:0007077)2.97772011
107respiratory chain complex IV assembly (GO:0008535)2.96964082
108antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.95889831
109positive regulation of icosanoid secretion (GO:0032305)2.95767828
110positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.94639330
111DNA replication checkpoint (GO:0000076)2.92842651
112signal transduction involved in cell cycle checkpoint (GO:0072395)2.92404908
113positive regulation of protein homooligomerization (GO:0032464)2.92258728
114cellular response to interferon-beta (GO:0035458)2.90753871
115translational termination (GO:0006415)2.90532586
116rRNA metabolic process (GO:0016072)2.90060130
117pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)2.87670531
118cellular metabolic compound salvage (GO:0043094)2.86886796
119cellular component biogenesis (GO:0044085)2.85552357
120transcription-coupled nucleotide-excision repair (GO:0006283)2.83727148
121positive regulation of ligase activity (GO:0051351)2.83338286
122aspartate family amino acid biosynthetic process (GO:0009067)2.83014669
123mitotic recombination (GO:0006312)2.82711326
124protein deneddylation (GO:0000338)2.82495231
125one-carbon metabolic process (GO:0006730)2.82207455
126positive regulation of defense response to virus by host (GO:0002230)2.80710833
127negative regulation of cell cycle arrest (GO:0071157)2.80307788
128cytochrome complex assembly (GO:0017004)2.79763751
129translational initiation (GO:0006413)2.79720338
130positive regulation of triglyceride biosynthetic process (GO:0010867)2.78508421
131regulation of translation in response to stress (GO:0043555)2.77774254
132opioid receptor signaling pathway (GO:0038003)2.77053500
133antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.76463662
134positive regulation of T cell apoptotic process (GO:0070234)2.75882645
135pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.75665769
136nucleotide-excision repair, DNA gap filling (GO:0006297)2.75065131
137mitotic metaphase plate congression (GO:0007080)2.73335743
1387-methylguanosine mRNA capping (GO:0006370)2.72849616
139L-phenylalanine metabolic process (GO:0006558)2.72302395
140erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.72302395
141translational elongation (GO:0006414)2.72238534
142ketone body metabolic process (GO:1902224)2.71594031
143pyrimidine ribonucleoside monophosphate metabolic process (GO:0009173)2.70895901
144UMP biosynthetic process (GO:0006222)2.70895901
145pyrimidine ribonucleoside monophosphate biosynthetic process (GO:0009174)2.70895901
146UMP metabolic process (GO:0046049)2.70895901
147translation (GO:0006412)2.70232787
148DNA replication-dependent nucleosome organization (GO:0034723)2.69875969
149DNA replication-dependent nucleosome assembly (GO:0006335)2.69875969
150purine nucleobase metabolic process (GO:0006144)2.69802722
151GPI anchor biosynthetic process (GO:0006506)2.69306107
152pyrimidine nucleoside monophosphate metabolic process (GO:0009129)2.68397029
153viral transcription (GO:0019083)2.68335957
154purine-containing compound salvage (GO:0043101)2.68273447
155negative regulation of T cell differentiation in thymus (GO:0033085)2.66681664
156positive regulation of protein kinase C signaling (GO:0090037)2.62637999
157negative regulation of synaptic transmission, GABAergic (GO:0032229)2.62220707
158regulation of histone deacetylation (GO:0031063)2.60558789
159regulation of hydrogen peroxide metabolic process (GO:0010310)2.56223529
160regulation of mitochondrial translation (GO:0070129)2.54828002
161detection of light stimulus involved in visual perception (GO:0050908)2.53563735
162detection of light stimulus involved in sensory perception (GO:0050962)2.53563735
163tryptophan catabolic process (GO:0006569)2.53272626
164indole-containing compound catabolic process (GO:0042436)2.53272626
165indolalkylamine catabolic process (GO:0046218)2.53272626
166negative regulation of multicellular organism growth (GO:0040015)2.52116039
167pyrimidine nucleotide catabolic process (GO:0006244)2.49811041
168GTP biosynthetic process (GO:0006183)2.49396089
169amine catabolic process (GO:0009310)2.49016797
170cellular biogenic amine catabolic process (GO:0042402)2.49016797
171GPI anchor metabolic process (GO:0006505)2.48862175
172motile cilium assembly (GO:0044458)2.48067675
173urinary tract smooth muscle contraction (GO:0014848)2.48030213
174regulation of mitochondrial fission (GO:0090140)2.47044967
175regulation of triglyceride biosynthetic process (GO:0010866)2.46793017
176water-soluble vitamin biosynthetic process (GO:0042364)2.46447058
177positive regulation of synapse maturation (GO:0090129)2.45445948
178purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.43168748
179protein insertion into membrane (GO:0051205)2.42965027
180regulation of synapse structural plasticity (GO:0051823)2.41525842
181cell migration in hindbrain (GO:0021535)2.41416667
182ATP biosynthetic process (GO:0006754)2.41202220
183NAD biosynthetic process (GO:0009435)2.40176127
184response to pheromone (GO:0019236)2.39750926
185purine nucleoside triphosphate biosynthetic process (GO:0009145)2.38481408
186tRNA processing (GO:0008033)2.38424799
187synaptic transmission, cholinergic (GO:0007271)2.38133251
188positive regulation of protein deacetylation (GO:0090312)2.37647608
189regulation of activation of Janus kinase activity (GO:0010533)2.37302089
190regulation of telomerase activity (GO:0051972)2.37155238

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.62790695
2EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.19087708
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.08897282
4* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.38673972
5* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.32512972
6ETS1_20019798_ChIP-Seq_JURKAT_Human3.05839719
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.03801213
8GABP_17652178_ChIP-ChIP_JURKAT_Human3.02764372
9* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.01126834
10NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.00825990
11CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.96302255
12HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.74138127
13CREB1_15753290_ChIP-ChIP_HEK293T_Human2.71555495
14* MYC_19079543_ChIP-ChIP_MESCs_Mouse2.71085678
15* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.70070944
16P68_20966046_ChIP-Seq_HELA_Human2.67371316
17ELF1_17652178_ChIP-ChIP_JURKAT_Human2.45390204
18LXR_22292898_ChIP-Seq_THP-1_Human2.44654529
19XRN2_22483619_ChIP-Seq_HELA_Human2.25008736
20BCL6_27268052_Chip-Seq_Bcells_Human2.23622106
21ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.20329328
22E2F1_18555785_ChIP-Seq_MESCs_Mouse2.19387442
23ELF1_20517297_ChIP-Seq_JURKAT_Human2.19307511
24NELFA_20434984_ChIP-Seq_ESCs_Mouse2.17163489
25TET1_21451524_ChIP-Seq_MESCs_Mouse2.17063402
26* VDR_23849224_ChIP-Seq_CD4+_Human2.15478868
27E2F4_17652178_ChIP-ChIP_JURKAT_Human2.10607682
28THAP11_20581084_ChIP-Seq_MESCs_Mouse2.07958772
29* GABP_19822575_ChIP-Seq_HepG2_Human2.06744050
30DCP1A_22483619_ChIP-Seq_HELA_Human2.02779650
31BCOR_27268052_Chip-Seq_Bcells_Human1.99728004
32E2F1_20622854_ChIP-Seq_HELA_Human1.97869506
33* FOXP3_21729870_ChIP-Seq_TREG_Human1.96382474
34FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.95109312
35CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.92272712
36* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.91608819
37E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.89508333
38PHF8_20622854_ChIP-Seq_HELA_Human1.88936158
39SA1_27219007_Chip-Seq_ERYTHROID_Human1.84359928
40EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.84228768
41CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.82376848
42YY1_21170310_ChIP-Seq_MESCs_Mouse1.81022402
43* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.80934864
44SRF_21415370_ChIP-Seq_HL-1_Mouse1.79598691
45FOXM1_23109430_ChIP-Seq_U2OS_Human1.78028087
46CTCF_27219007_Chip-Seq_Bcells_Human1.76684056
47PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.76451692
48* EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.75863832
49CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.75225473
50CTCF_20526341_ChIP-Seq_ESCs_Human1.75044716
51POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.74061184
52YY1_22570637_ChIP-Seq_MALME-3M_Human1.67510688
53SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.66492443
54MYC_22102868_ChIP-Seq_BL_Human1.65629864
55NANOG_18555785_ChIP-Seq_MESCs_Mouse1.65150692
56CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.65064330
57PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.65018296
58TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.64865622
59FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.64835076
60ERG_21242973_ChIP-ChIP_JURKAT_Human1.64257920
61SMC4_20622854_ChIP-Seq_HELA_Human1.63887506
62MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.62979361
63CIITA_25753668_ChIP-Seq_RAJI_Human1.62844838
64* FOXP1_21924763_ChIP-Seq_HESCs_Human1.62478408
65ZFX_18555785_ChIP-Seq_MESCs_Mouse1.61111207
66POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.60398342
67ERA_21632823_ChIP-Seq_H3396_Human1.60376638
68* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.59423723
69MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.58682422
70RARB_24833708_ChIP-Seq_LIVER_Mouse1.58621851
71MAF_26560356_Chip-Seq_TH2_Human1.58090805
72CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.57866265
73ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.54844638
74FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.53937451
75ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.53381153
76* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.51925636
77IKZF1_21737484_ChIP-ChIP_HCT116_Human1.50871813
78SA1_27219007_Chip-Seq_Bcells_Human1.50708312
79CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.49881440
80* TTF2_22483619_ChIP-Seq_HELA_Human1.49433637
81MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.49433600
82MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.49172170
83SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.48474509
84* RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.48289047
85EZH2_27294783_Chip-Seq_ESCs_Mouse1.47696755
86KDM2B_26808549_Chip-Seq_SUP-B15_Human1.45917323
87CTCF_26484167_Chip-Seq_Bcells_Mouse1.45794330
88* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.44737975
89THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.43033282
90TP53_22127205_ChIP-Seq_IMR90_Human1.42132436
91AR_21909140_ChIP-Seq_LNCAP_Human1.40996054
92CTCF_27219007_Chip-Seq_ERYTHROID_Human1.40956561
93SRY_22984422_ChIP-ChIP_TESTIS_Rat1.39945916
94NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.39938532
95PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.38133808
96ERG_20887958_ChIP-Seq_HPC-7_Mouse1.37015179
97SUZ12_27294783_Chip-Seq_ESCs_Mouse1.36441781
98E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.36385408
99SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.35981304
100DNAJC2_21179169_ChIP-ChIP_NT2_Human1.34728011
101PPARA_22158963_ChIP-Seq_LIVER_Mouse1.34613927
102EZH2_22144423_ChIP-Seq_EOC_Human1.34591099
103HOXB4_20404135_ChIP-ChIP_EML_Mouse1.33518282
104RARA_24833708_ChIP-Seq_LIVER_Mouse1.32927997
105KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.32455512
106IRF8_22096565_ChIP-ChIP_GC-B_Human1.32090402
107STAT3_1855785_ChIP-Seq_MESCs_Mouse1.31887810
108KDM5A_27292631_Chip-Seq_BREAST_Human1.31356300
109TAF2_19829295_ChIP-Seq_ESCs_Human1.30072162
110NOTCH1_21737748_ChIP-Seq_TLL_Human1.29982297
111RXR_22158963_ChIP-Seq_LIVER_Mouse1.28916062
112OCT4_19829295_ChIP-Seq_ESCs_Human1.28247204
113ELK3_25401928_ChIP-Seq_HUVEC_Human1.28020131
114TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.26674020
115* P300_27268052_Chip-Seq_Bcells_Human1.26653395
116EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.26157516
117KDM2B_26808549_Chip-Seq_DND41_Human1.25478666
118TFEB_21752829_ChIP-Seq_HELA_Human1.24685412
119RAC3_21632823_ChIP-Seq_H3396_Human1.24110148
120E2F1_21310950_ChIP-Seq_MCF-7_Human1.22807468
121* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.22341979
122CTCF_21964334_ChIP-Seq_BJAB-B_Human1.21795312
123TP63_22573176_ChIP-Seq_HFKS_Human1.21630464
124TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.21463527
125ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.21231435
126DROSHA_22980978_ChIP-Seq_HELA_Human1.21091720
127CREB1_26743006_Chip-Seq_LNCaP_Human1.20850680
128MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.19801842
129SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.19703331
130SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.18496851
131RACK7_27058665_Chip-Seq_MCF-7_Human1.17512681
132RXRA_24833708_ChIP-Seq_LIVER_Mouse1.16827062
133ELK1_19687146_ChIP-ChIP_HELA_Human1.15944956
134ZNF274_21170338_ChIP-Seq_K562_Hela1.15014234
135RARG_19884340_ChIP-ChIP_MEFs_Mouse1.13221608
136KLF4_18555785_ChIP-Seq_MESCs_Mouse1.12506637
137EGR1_19374776_ChIP-ChIP_THP-1_Human1.12233833
138EGR1_23403033_ChIP-Seq_LIVER_Mouse1.12081820
139CTCF_21964334_Chip-Seq_Bcells_Human1.11549411
140SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11265894
141FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.10402270
142* PU.1_20513432_ChIP-Seq_Bcells_Mouse1.10361950
143ESR1_15608294_ChIP-ChIP_MCF-7_Human1.09505312
144SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.08132871
145VDR_21846776_ChIP-Seq_THP-1_Human1.07999026
146ETS1_21867929_ChIP-Seq_TH2_Mouse1.07375478
147BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.06846151
148OCT4_20526341_ChIP-Seq_ESCs_Human1.06391877
149EED_16625203_ChIP-ChIP_MESCs_Mouse1.06039707
150DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.05135681
151CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.04765982
152SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.04115201
153TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.04060268
154IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.03879051
155* POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.03455959
156GATA1_22025678_ChIP-Seq_K562_Human0.99378646
157GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.98611145
158E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.97887985
159PADI4_21655091_ChIP-ChIP_MCF-7_Human0.97440646
160CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.97401446
161CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.95952097
162KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.94887476
163CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.94657450
164HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.94000091
165CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.92068284
166SPI1_23547873_ChIP-Seq_NB4_Human0.89848939
167OCT4_18692474_ChIP-Seq_MEFs_Mouse0.89434938
168HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.89333346
169RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.88640027
170ELK1_22589737_ChIP-Seq_MCF10A_Human0.88327257
171KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.87333014
172CTCF_18555785_ChIP-Seq_MESCs_Mouse0.86563218
173SOX2_18555785_ChIP-Seq_MESCs_Mouse0.85825942

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching4.93917539
2MP0003806_abnormal_nucleotide_metabolis4.26616594
3MP0003646_muscle_fatigue3.76920784
4MP0002139_abnormal_hepatobiliary_system3.38323578
5MP0004957_abnormal_blastocyst_morpholog3.26380944
6MP0003111_abnormal_nucleus_morphology3.09108107
7MP0005360_urolithiasis3.05687965
8MP0009840_abnormal_foam_cell3.02944870
9MP0005365_abnormal_bile_salt2.93963453
10MP0002396_abnormal_hematopoietic_system2.78945717
11MP0001986_abnormal_taste_sensitivity2.77788272
12MP0010094_abnormal_chromosome_stability2.75751179
13MP0003077_abnormal_cell_cycle2.74745629
14MP0008058_abnormal_DNA_repair2.71115345
15MP0005085_abnormal_gallbladder_physiolo2.63674006
16MP0005423_abnormal_somatic_nervous2.50728166
17MP0001968_abnormal_touch/_nociception2.45806421
18MP0008007_abnormal_cellular_replicative2.36948542
19MP0001502_abnormal_circadian_rhythm2.32489051
20MP0005646_abnormal_pituitary_gland2.22434895
21MP0004043_abnormal_pH_regulation2.00820206
22MP0009745_abnormal_behavioral_response1.98587408
23MP0003186_abnormal_redox_activity1.96493434
24MP0001348_abnormal_lacrimal_gland1.92907756
25MP0002876_abnormal_thyroid_physiology1.86980852
26MP0005645_abnormal_hypothalamus_physiol1.86958869
27MP0008875_abnormal_xenobiotic_pharmacok1.86407022
28MP0003191_abnormal_cellular_cholesterol1.85769675
29MP0001873_stomach_inflammation1.84964700
30MP0009697_abnormal_copulation1.82808239
31MP0001730_embryonic_growth_arrest1.82257233
32MP0004145_abnormal_muscle_electrophysio1.80802834
33MP0002064_seizures1.79566392
34MP0004130_abnormal_muscle_cell1.77846335
35MP0008932_abnormal_embryonic_tissue1.76461057
36MP0002822_catalepsy1.74182483
37MP0008057_abnormal_DNA_replication1.70862608
38MP0004147_increased_porphyrin_level1.70663582
39MP0001764_abnormal_homeostasis1.68981660
40MP0003879_abnormal_hair_cell1.66182100
41MP0009046_muscle_twitch1.64925363
42MP0004142_abnormal_muscle_tone1.63859547
43MP0002735_abnormal_chemical_nociception1.60884294
44MP0005551_abnormal_eye_electrophysiolog1.60688001
45MP0001501_abnormal_sleep_pattern1.59809836
46MP0003786_premature_aging1.59093826
47MP0002837_dystrophic_cardiac_calcinosis1.58999967
48MP0006036_abnormal_mitochondrial_physio1.58550978
49MP0006035_abnormal_mitochondrial_morpho1.55783983
50* MP0000350_abnormal_cell_proliferation1.55748069
51MP0002572_abnormal_emotion/affect_behav1.53746738
52MP0001905_abnormal_dopamine_level1.53190637
53MP0010329_abnormal_lipoprotein_level1.52720660
54MP0003718_maternal_effect1.50978509
55MP0000358_abnormal_cell_content/1.50597374
56MP0005319_abnormal_enzyme/_coenzyme1.47996975
57MP0009333_abnormal_splenocyte_physiolog1.46648171
58MP0002272_abnormal_nervous_system1.45199066
59MP0002736_abnormal_nociception_after1.44546119
60MP0005332_abnormal_amino_acid1.42040070
61MP0002928_abnormal_bile_duct1.41432247
62MP0001970_abnormal_pain_threshold1.41300250
63MP0002063_abnormal_learning/memory/cond1.39775709
64MP0005451_abnormal_body_composition1.39240306
65MP0002733_abnormal_thermal_nociception1.38794990
66MP0003283_abnormal_digestive_organ1.38510453
67MP0003763_abnormal_thymus_physiology1.38211254
68MP0003635_abnormal_synaptic_transmissio1.38092365
69MP0002638_abnormal_pupillary_reflex1.37182973
70MP0000490_abnormal_crypts_of1.36271441
71MP0000609_abnormal_liver_physiology1.33978690
72MP0005083_abnormal_biliary_tract1.33740065
73MP0000678_abnormal_parathyroid_gland1.32043975
74MP0009384_cardiac_valve_regurgitation1.31934377
75MP0003656_abnormal_erythrocyte_physiolo1.30742591
76MP0000015_abnormal_ear_pigmentation1.30581885
77MP0008872_abnormal_physiological_respon1.30440810
78MP0003123_paternal_imprinting1.30226619
79MP0005174_abnormal_tail_pigmentation1.29979058
80MP0002160_abnormal_reproductive_system1.29360922
81MP0005075_abnormal_melanosome_morpholog1.29021208
82MP0002249_abnormal_larynx_morphology1.28909600
83MP0001835_abnormal_antigen_presentation1.28357423
84MP0005410_abnormal_fertilization1.27664586
85MP0000689_abnormal_spleen_morphology1.26792997
86MP0010352_gastrointestinal_tract_polyps1.24912783
87MP0000313_abnormal_cell_death1.22594791
88MP0000685_abnormal_immune_system1.21314363
89MP0001919_abnormal_reproductive_system1.21047037
90* MP0002019_abnormal_tumor_incidence1.20389615
91MP0002163_abnormal_gland_morphology1.19870078
92MP0001293_anophthalmia1.19581233
93* MP0002080_prenatal_lethality1.17608310
94MP0002722_abnormal_immune_system1.17565227
95MP0004859_abnormal_synaptic_plasticity1.17329084
96MP0001545_abnormal_hematopoietic_system1.16822072
97MP0005397_hematopoietic_system_phenotyp1.16822072
98MP0000750_abnormal_muscle_regeneration1.15074267
99* MP0000598_abnormal_liver_morphology1.13347676
100MP0006054_spinal_hemorrhage1.11579668
101MP0001666_abnormal_nutrient_absorption1.11546130
102MP0008961_abnormal_basal_metabolism1.09497627
103MP0001697_abnormal_embryo_size1.08456412
104MP0000538_abnormal_urinary_bladder1.08272789
105MP0001853_heart_inflammation1.07811633
106MP0005167_abnormal_blood-brain_barrier1.07339966
107MP0003172_abnormal_lysosome_physiology1.05798164
108MP0005671_abnormal_response_to1.05758874
109MP0002398_abnormal_bone_marrow1.05318875
110MP0002557_abnormal_social/conspecific_i1.04976123
111MP0003195_calcinosis1.04417777
112MP0002693_abnormal_pancreas_physiology1.03637403
113MP0005389_reproductive_system_phenotype1.01363421
114MP0005503_abnormal_tendon_morphology1.01144627
115MP0001661_extended_life_span1.00958331
116MP0004133_heterotaxia1.00923489
117MP0008469_abnormal_protein_level1.00904173
118MP0004808_abnormal_hematopoietic_stem0.99638241
119MP0004742_abnormal_vestibular_system0.98978059
120MP0002132_abnormal_respiratory_system0.98657476
121MP0002653_abnormal_ependyma_morphology0.97788453
122MP0009053_abnormal_anal_canal0.97696539
123MP0002234_abnormal_pharynx_morphology0.97373856
124* MP0002429_abnormal_blood_cell0.96857290
125MP0005266_abnormal_metabolism0.96807388
126MP0002067_abnormal_sensory_capabilities0.96800956
127MP0001765_abnormal_ion_homeostasis0.96224020
128MP0000003_abnormal_adipose_tissue0.95048848
129MP0009785_altered_susceptibility_to0.94997620
130MP0001944_abnormal_pancreas_morphology0.94950345
131MP0000703_abnormal_thymus_morphology0.94848146
132* MP0005380_embryogenesis_phenotype0.94298783
133* MP0001672_abnormal_embryogenesis/_devel0.94298783
134MP0001270_distended_abdomen0.93772268
135MP0000049_abnormal_middle_ear0.92464110
136MP0009643_abnormal_urine_homeostasis0.91941816
137MP0006276_abnormal_autonomic_nervous0.91364358
138MP0002933_joint_inflammation0.91256197
139MP0004858_abnormal_nervous_system0.90441716
140MP0001756_abnormal_urination0.90391629
141MP0005220_abnormal_exocrine_pancreas0.89835027
142MP0001800_abnormal_humoral_immune0.89719316
143MP0009379_abnormal_foot_pigmentation0.89715881
144* MP0003984_embryonic_growth_retardation0.88614108
145MP0003136_yellow_coat_color0.88213252
146MP0005448_abnormal_energy_balance0.87586992
147MP0000681_abnormal_thyroid_gland0.87535787
148MP0009672_abnormal_birth_weight0.87336174
149MP0000230_abnormal_systemic_arterial0.87190740
150MP0003436_decreased_susceptibility_to0.86024264
151* MP0002088_abnormal_embryonic_growth/wei0.85493268
152MP0002138_abnormal_hepatobiliary_system0.84959055
153MP0008775_abnormal_heart_ventricle0.84852759
154MP0005584_abnormal_enzyme/coenzyme_acti0.84253644
155MP0003137_abnormal_impulse_conducting0.84040707
156MP0000716_abnormal_immune_system0.83577102
157MP0002723_abnormal_immune_serum0.83383903
158MP0008995_early_reproductive_senescence0.81798061
159MP0001664_abnormal_digestion0.81161904
160MP0001963_abnormal_hearing_physiology0.80959584
161MP0008260_abnormal_autophagy0.80867989
162MP0002102_abnormal_ear_morphology0.80395763
163MP0005464_abnormal_platelet_physiology0.79865591
164* MP0004197_abnormal_fetal_growth/weight/0.79729940
165MP0004019_abnormal_vitamin_homeostasis0.79528242
166MP0005023_abnormal_wound_healing0.78144422
167MP0004885_abnormal_endolymph0.77225698
168MP0005535_abnormal_body_temperature0.76548862
169MP0009763_increased_sensitivity_to0.75588657
170MP0003878_abnormal_ear_physiology0.74385323
171MP0005377_hearing/vestibular/ear_phenot0.74385323
172MP0000026_abnormal_inner_ear0.73335277
173MP0005171_absent_coat_pigmentation0.73253607
174MP0005670_abnormal_white_adipose0.71205102
175MP0003252_abnormal_bile_duct0.70293869
176MP0003221_abnormal_cardiomyocyte_apopto0.70072395
177MP0000013_abnormal_adipose_tissue0.68882197
178MP0010386_abnormal_urinary_bladder0.68748396
179MP0003315_abnormal_perineum_morphology0.67886792
180MP0006292_abnormal_olfactory_placode0.67084235
181MP0002420_abnormal_adaptive_immunity0.66894985
182MP0005025_abnormal_response_to0.66836304
183MP0008873_increased_physiological_sensi0.66626215
184MP0002269_muscular_atrophy0.66562640
185MP0005376_homeostasis/metabolism_phenot0.66533767

Predicted human phenotypes

RankGene SetZ-score
1Testicular atrophy (HP:0000029)5.53208121
2Congenital stationary night blindness (HP:0007642)4.31482866
3Abnormality of the anterior horn cell (HP:0006802)4.07714232
4Degeneration of anterior horn cells (HP:0002398)4.07714232
5Type II lissencephaly (HP:0007260)3.84326260
6Abnormality of aromatic amino acid family metabolism (HP:0004338)3.69005425
7Cerebral hypomyelination (HP:0006808)3.67101149
8Hyperglycinemia (HP:0002154)3.58752467
9Hypobetalipoproteinemia (HP:0003563)3.57450460
10Carpal bone hypoplasia (HP:0001498)3.43165433
11Birth length less than 3rd percentile (HP:0003561)3.32691774
12Abnormality of midbrain morphology (HP:0002418)3.26365480
13Molar tooth sign on MRI (HP:0002419)3.26365480
14Microretrognathia (HP:0000308)3.22037973
15Mesangial abnormality (HP:0001966)3.21319824
16Oral leukoplakia (HP:0002745)3.15837793
17Abnormality of monocarboxylic acid metabolism (HP:0010996)3.12986316
18Progressive microcephaly (HP:0000253)3.08967611
19Decreased activity of mitochondrial respiratory chain (HP:0008972)3.05663993
20Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.05663993
21Breast hypoplasia (HP:0003187)3.05226880
22Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.02238284
23Aplastic anemia (HP:0001915)2.98980231
24Attenuation of retinal blood vessels (HP:0007843)2.95190007
25Hyperglycinuria (HP:0003108)2.94630834
26Multiple enchondromatosis (HP:0005701)2.90910972
27Abnormality of serum amino acid levels (HP:0003112)2.90758377
283-Methylglutaconic aciduria (HP:0003535)2.90015308
29Mitochondrial inheritance (HP:0001427)2.88095851
30Abnormality of glycine metabolism (HP:0010895)2.83773614
31Abnormality of serine family amino acid metabolism (HP:0010894)2.83773614
32Abnormality of cells of the erythroid lineage (HP:0012130)2.82105639
33Decreased electroretinogram (ERG) amplitude (HP:0000654)2.81380161
34Abnormality of alanine metabolism (HP:0010916)2.81308122
35Hyperalaninemia (HP:0003348)2.81308122
36Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.81308122
37Elevated erythrocyte sedimentation rate (HP:0003565)2.80404356
38Abnormal number of erythroid precursors (HP:0012131)2.80031815
39Abnormality of pyrimidine metabolism (HP:0004353)2.79690783
40Hyperammonemia (HP:0001987)2.79527269
41Opisthotonus (HP:0002179)2.67680254
42Large for gestational age (HP:0001520)2.67278107
43Increased serum lactate (HP:0002151)2.65427180
44IgM deficiency (HP:0002850)2.64647577
45Intrahepatic cholestasis (HP:0001406)2.64421164
46Abnormal mitochondria in muscle tissue (HP:0008316)2.63080118
47Polydipsia (HP:0001959)2.62839380
48Abnormal drinking behavior (HP:0030082)2.62839380
49Severe muscular hypotonia (HP:0006829)2.59990268
50Megaloblastic anemia (HP:0001889)2.58942457
51Atrophy/Degeneration involving motor neurons (HP:0007373)2.58589149
52Flat capital femoral epiphysis (HP:0003370)2.58259638
53Rough bone trabeculation (HP:0100670)2.56623908
54Ragged-red muscle fibers (HP:0003200)2.56504405
55Pancreatic cysts (HP:0001737)2.54561869
56Nephronophthisis (HP:0000090)2.48686135
57Hepatic necrosis (HP:0002605)2.47037573
58Cystic liver disease (HP:0006706)2.43877427
59Abnormality of dicarboxylic acid metabolism (HP:0010995)2.43509218
60Dicarboxylic aciduria (HP:0003215)2.43509218
61Acute necrotizing encephalopathy (HP:0006965)2.39715259
62Broad distal phalanx of finger (HP:0009836)2.37430272
63Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.37124317
64Generalized aminoaciduria (HP:0002909)2.33937939
65Abnormality of fatty-acid metabolism (HP:0004359)2.33648433
66Type I transferrin isoform profile (HP:0003642)2.33369929
67Rib fusion (HP:0000902)2.32801588
68Bile duct proliferation (HP:0001408)2.31064611
69Abnormal biliary tract physiology (HP:0012439)2.31064611
70Concave nail (HP:0001598)2.30777843
71Genetic anticipation (HP:0003743)2.30302923
72Spastic diplegia (HP:0001264)2.29210985
73Hepatocellular necrosis (HP:0001404)2.28413596
74Lethargy (HP:0001254)2.27301000
75CNS demyelination (HP:0007305)2.27127545
76Retinal dysplasia (HP:0007973)2.26963734
77Lactic acidosis (HP:0003128)2.26687138
78Hyperacusis (HP:0010780)2.24098750
79Reticulocytopenia (HP:0001896)2.23148125
80Pancreatic fibrosis (HP:0100732)2.21499044
81Prolonged partial thromboplastin time (HP:0003645)2.21156869
82Ketoacidosis (HP:0001993)2.20534963
83Abnormality of sulfur amino acid metabolism (HP:0004339)2.17498543
84Death in infancy (HP:0001522)2.14459829
85Abnormality of glycolysis (HP:0004366)2.12626810
86Increased serum pyruvate (HP:0003542)2.12626810
87Annular pancreas (HP:0001734)2.12227563
88Clumsiness (HP:0002312)2.11751079
89Myokymia (HP:0002411)2.11526539
90Abnormality of the intrinsic pathway (HP:0010989)2.10535819
91Pancytopenia (HP:0001876)2.09932856
92Tubular atrophy (HP:0000092)2.08723765
93Hyperbilirubinemia (HP:0002904)2.08211394
94Increased neuronal autofluorescent lipopigment (HP:0002074)2.07261275
95Abnormality of the motor neurons (HP:0002450)2.06977679
96Abnormal neuron morphology (HP:0012757)2.06977679
97Macrocytic anemia (HP:0001972)2.06890927
98Deep venous thrombosis (HP:0002625)2.06378382
99Xanthomatosis (HP:0000991)2.06279130
100Cerebellar dysplasia (HP:0007033)2.06255531
101Reduced antithrombin III activity (HP:0001976)2.05810499
102Abnormal number of incisors (HP:0011064)2.04914863
103Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.04724061
104Spinal muscular atrophy (HP:0007269)2.04485104
105Pendular nystagmus (HP:0012043)2.03348125
106Patellar aplasia (HP:0006443)2.02718124
107CNS hypomyelination (HP:0003429)2.01570012
108Thrombocytosis (HP:0001894)2.00827434
109Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.00736689
110Hyperthyroidism (HP:0000836)2.00153886
111Agnosia (HP:0010524)2.00054395
112Increased CSF lactate (HP:0002490)1.99947364
113Spastic paraparesis (HP:0002313)1.99684246
114Optic disc pallor (HP:0000543)1.98782324
115Polyuria (HP:0000103)1.98570739
116Severe visual impairment (HP:0001141)1.98102055
117Hypolipoproteinemia (HP:0010981)1.97251188
118Progressive muscle weakness (HP:0003323)1.96735147
119Selective tooth agenesis (HP:0001592)1.96673219
120Abnormality of methionine metabolism (HP:0010901)1.96036772
121Joint stiffness (HP:0001387)1.95874334
122Secondary amenorrhea (HP:0000869)1.95738554
123Unsteady gait (HP:0002317)1.95250751
124Methylmalonic aciduria (HP:0012120)1.93608751
125Renovascular hypertension (HP:0100817)1.93094064
126Chronic hepatic failure (HP:0100626)1.92432857
127Ependymoma (HP:0002888)1.91919184
128Brushfield spots (HP:0001088)1.91650393
129Cerebral edema (HP:0002181)1.91388261
130Abnormal protein glycosylation (HP:0012346)1.91151477
131Abnormal glycosylation (HP:0012345)1.91151477
132Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.91151477
133Abnormal protein N-linked glycosylation (HP:0012347)1.91151477
134Abnormality of the heme biosynthetic pathway (HP:0010472)1.90832148
135Abnormality of the renal medulla (HP:0100957)1.89665005
136Cerebral palsy (HP:0100021)1.89348710
137Premature graying of hair (HP:0002216)1.88001212
138Progressive cerebellar ataxia (HP:0002073)1.87993508
139Cellular immunodeficiency (HP:0005374)1.87144267
140Hemiparesis (HP:0001269)1.86755324
141Acute encephalopathy (HP:0006846)1.86361456
142Abnormality of the renal cortex (HP:0011035)1.86042051
143Decreased circulating renin level (HP:0003351)1.85856030
144Partial agenesis of the corpus callosum (HP:0001338)1.85282004
145Increased muscle lipid content (HP:0009058)1.85000058
146Aplasia/Hypoplasia of the patella (HP:0006498)1.83928301
147True hermaphroditism (HP:0010459)1.83578557
148Ketosis (HP:0001946)1.82813764
149Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.82709368
150Hyperlipoproteinemia (HP:0010980)1.81867405
151Lipid accumulation in hepatocytes (HP:0006561)1.81833913
152Sclerocornea (HP:0000647)1.81706535
153Premature ovarian failure (HP:0008209)1.81133026
154Trismus (HP:0000211)1.80412875
155Nonimmune hydrops fetalis (HP:0001790)1.80053952
156Abnormal rod and cone electroretinograms (HP:0008323)1.79839854
157Elfin facies (HP:0004428)1.79517099
158Medial flaring of the eyebrow (HP:0010747)1.78997436
159Increased intramyocellular lipid droplets (HP:0012240)1.77542369
160Progressive macrocephaly (HP:0004481)1.76158325
161Delayed CNS myelination (HP:0002188)1.75310559
162Absent thumb (HP:0009777)1.73904999
163Unilateral renal agenesis (HP:0000122)1.73111987
164Hyperventilation (HP:0002883)1.72383542
165Abnormality of glycolipid metabolism (HP:0010969)1.71448919
166Abnormality of liposaccharide metabolism (HP:0010968)1.71448919
167Abnormality of glycosphingolipid metabolism (HP:0004343)1.71448919
168Inability to walk (HP:0002540)1.65129222
169Cortical visual impairment (HP:0100704)1.63535313
170Emotional lability (HP:0000712)1.63469420
171Gait imbalance (HP:0002141)1.62796096
172Occipital encephalocele (HP:0002085)1.61648236
173Tachypnea (HP:0002789)1.60669526
174Prolonged QT interval (HP:0001657)1.60385642

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.40735736
2BCKDK3.74486133
3EIF2AK13.69987890
4MAPK153.42629817
5STK163.32883990
6WEE13.09501315
7TSSK63.00977753
8EIF2AK32.70045624
9NME22.63892948
10FLT32.35550033
11WNK42.32571358
12NEK12.16998849
13TRIB32.16812860
14TESK22.14728607
15DAPK22.11775330
16SIK32.02495849
17SIK22.02023065
18MAP4K11.93930497
19ADRBK21.86114511
20PRKD21.80805623
21PRKD31.76310870
22SRPK11.68236444
23CDC71.66364257
24DYRK31.65737880
25CAMKK11.64546160
26TNK21.62381800
27TXK1.58554983
28KDR1.58034289
29CAMK1D1.57017159
30PASK1.54027131
31BRSK21.51446978
32RPS6KA41.49660619
33MAP3K101.49576298
34ERN11.47307262
35MAP2K61.46618158
36TAOK31.46570593
37VRK11.45063688
38TAOK21.38409518
39ACVR1B1.38390959
40PIM21.38322873
41TGFBR11.37664288
42MARK21.32954104
43CCNB11.31917856
44CDC42BPA1.24595014
45PKN21.22485152
46SMG11.21244660
47BMPR1B1.20442632
48PLK41.20019590
49MAP2K31.19549676
50VRK21.19477377
51BRSK11.19300363
52MAP3K111.17746136
53PLK11.17176040
54KSR11.16918590
55CDK81.16430551
56CDK71.15593645
57NEK21.15453597
58GRK11.15272279
59EPHA21.13296955
60MAP3K71.10512007
61ZAK1.10388542
62PAK41.10335831
63PHKG11.09735636
64PHKG21.09735636
65MAP4K21.08444054
66PLK31.06866036
67ICK1.06084447
68ATR1.05712274
69EEF2K1.04045292
70RPS6KB21.02910814
71PBK1.02371255
72HIPK21.02066837
73FRK1.00547519
74SCYL21.00504221
75ZAP700.99371630
76MAP3K30.96826767
77CSF1R0.96339899
78BTK0.96046775
79TIE10.95456342
80CDK40.90364695
81TTK0.89675649
82AURKB0.88972874
83AURKA0.87549566
84MKNK10.87359938
85RPS6KA60.87180959
86MAP3K80.87111147
87LRRK20.86916907
88CAMK40.86880172
89KIT0.86847373
90MAPKAPK50.86500730
91TESK10.86455655
92PINK10.86226369
93CAMK10.85405106
94BLK0.84844670
95PAK60.82813293
96MAPK120.81955509
97BRAF0.80081069
98INSRR0.79459503
99GRK60.75455221
100PIM10.74784994
101RPS6KA20.74608290
102DAPK10.74275580
103MAPK130.73583032
104NUAK10.73011764
105PKN10.71108287
106CHUK0.70279064
107PRKAA10.67640277
108TLK10.67183228
109DYRK1B0.66692978
110ARAF0.66194376
111TBK10.64241335
112ADRBK10.63100817
113PRKCH0.59572277
114IRAK40.58179402
115MAPKAPK30.57384253
116IKBKB0.56227272
117RPS6KC10.55597604
118RPS6KL10.55597604
119SIK10.53784646
120TYK20.52975987
121STK40.51920807
122CHEK10.51645855
123AKT30.49788542
124CSNK2A20.49670756
125CSNK2A10.49486217
126IRAK30.49375533
127ABL20.48665567
128LYN0.48084493
129CSNK1G30.47237155
130RPS6KA10.46795761
131NEK90.46721308
132PAK10.45875773
133DYRK20.45743627
134TEC0.44620604
135PRKAA20.44069475
136PRKD10.43780667
137MAPK110.42379282
138STK110.42377852
139PDPK10.41642948
140IRAK10.41589155
141MAP2K70.40636199
142LIMK10.40370275
143STK100.39129913
144CHEK20.38996035
145SYK0.38388021
146CAMKK20.38158092
147CSNK1A1L0.36001729
148CDK20.35404212
149CAMK1G0.35085833
150PRKCI0.35021309
151DAPK30.34565788
152BCR0.34491127
153MTOR0.33361317
154MAPK80.33320466
155MAP2K20.33065922
156MAP3K10.32323804
157PTK60.32196952
158ALK0.32172804
159TAOK10.31247107
160AKT20.30979817
161JAK30.30946789
162FGFR40.30125919
163NME10.29904963
164CDK190.29118901
165RPS6KA50.29020200
166IKBKE0.25691604
167ERBB20.24560459

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030303.67270934
2Proteasome_Homo sapiens_hsa030503.60191591
3RNA polymerase_Homo sapiens_hsa030202.98744632
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.92946074
5One carbon pool by folate_Homo sapiens_hsa006702.87412712
6Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.78618789
7Mismatch repair_Homo sapiens_hsa034302.66257686
8Pyrimidine metabolism_Homo sapiens_hsa002402.52313479
9Ribosome_Homo sapiens_hsa030102.51016329
10Oxidative phosphorylation_Homo sapiens_hsa001902.44225138
11Base excision repair_Homo sapiens_hsa034102.40170021
12Folate biosynthesis_Homo sapiens_hsa007902.34952310
13Spliceosome_Homo sapiens_hsa030402.26656981
14Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.25617709
15Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.22239175
16Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.14134154
172-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.07103927
18RNA transport_Homo sapiens_hsa030132.05890549
19Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.04596283
20Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.03473633
21Biosynthesis of amino acids_Homo sapiens_hsa012302.00322674
22Drug metabolism - other enzymes_Homo sapiens_hsa009831.98653030
23alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.97099835
24Linoleic acid metabolism_Homo sapiens_hsa005911.92245208
25Cysteine and methionine metabolism_Homo sapiens_hsa002701.91498910
26Sulfur relay system_Homo sapiens_hsa041221.90607593
27Nucleotide excision repair_Homo sapiens_hsa034201.85584559
28Cyanoamino acid metabolism_Homo sapiens_hsa004601.84811091
29Vitamin B6 metabolism_Homo sapiens_hsa007501.78498806
30Phototransduction_Homo sapiens_hsa047441.74034947
31Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.69865991
32Primary bile acid biosynthesis_Homo sapiens_hsa001201.65946641
33Selenocompound metabolism_Homo sapiens_hsa004501.65893216
34Intestinal immune network for IgA production_Homo sapiens_hsa046721.65513083
35Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.61137492
36Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.60995157
37Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.57151282
38Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.56329185
39Carbon metabolism_Homo sapiens_hsa012001.53175048
40Pentose phosphate pathway_Homo sapiens_hsa000301.50518862
41Cardiac muscle contraction_Homo sapiens_hsa042601.45060000
42Nitrogen metabolism_Homo sapiens_hsa009101.42889911
43Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.39779684
44Nicotine addiction_Homo sapiens_hsa050331.38543703
45Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.37781515
46Homologous recombination_Homo sapiens_hsa034401.36163970
47Insulin secretion_Homo sapiens_hsa049111.33856912
48Alzheimers disease_Homo sapiens_hsa050101.33228725
49Non-homologous end-joining_Homo sapiens_hsa034501.32050315
50Purine metabolism_Homo sapiens_hsa002301.28933351
51Cell cycle_Homo sapiens_hsa041101.27546699
52Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.22409548
53Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.17199841
54Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.16524236
55Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.15755811
56RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.14994339
57Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.13861663
58Synaptic vesicle cycle_Homo sapiens_hsa047211.11949482
59Arachidonic acid metabolism_Homo sapiens_hsa005901.09121878
60Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.08421225
61Calcium signaling pathway_Homo sapiens_hsa040201.06568862
62Ether lipid metabolism_Homo sapiens_hsa005651.06517970
63Fructose and mannose metabolism_Homo sapiens_hsa000511.03760014
64Peroxisome_Homo sapiens_hsa041461.01785155
65RNA degradation_Homo sapiens_hsa030181.01367474
66Ovarian steroidogenesis_Homo sapiens_hsa049131.00604226
67Pentose and glucuronate interconversions_Homo sapiens_hsa000400.99839878
68Other glycan degradation_Homo sapiens_hsa005110.99256568
69Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.98535757
70Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.98222003
71ABC transporters_Homo sapiens_hsa020100.96329779
72Protein export_Homo sapiens_hsa030600.94714917
73Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.93311269
74Pyruvate metabolism_Homo sapiens_hsa006200.92476746
75Tryptophan metabolism_Homo sapiens_hsa003800.90916186
76Aldosterone synthesis and secretion_Homo sapiens_hsa049250.89543227
77Salivary secretion_Homo sapiens_hsa049700.88246419
78Fatty acid degradation_Homo sapiens_hsa000710.87416646
79Arginine and proline metabolism_Homo sapiens_hsa003300.84259717
80Galactose metabolism_Homo sapiens_hsa000520.84100369
81Glutathione metabolism_Homo sapiens_hsa004800.83256216
82Arginine biosynthesis_Homo sapiens_hsa002200.83210465
83Graft-versus-host disease_Homo sapiens_hsa053320.82241617
84Epstein-Barr virus infection_Homo sapiens_hsa051690.82001253
85Morphine addiction_Homo sapiens_hsa050320.80732606
86Basal transcription factors_Homo sapiens_hsa030220.79551417
87Propanoate metabolism_Homo sapiens_hsa006400.78977181
88Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.76651580
89Type I diabetes mellitus_Homo sapiens_hsa049400.76535826
90Legionellosis_Homo sapiens_hsa051340.72476844
91Fatty acid biosynthesis_Homo sapiens_hsa000610.69281659
92Glycerophospholipid metabolism_Homo sapiens_hsa005640.67829201
93Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.67691194
94beta-Alanine metabolism_Homo sapiens_hsa004100.66110882
95Complement and coagulation cascades_Homo sapiens_hsa046100.65346617
96Allograft rejection_Homo sapiens_hsa053300.64678960
97Fanconi anemia pathway_Homo sapiens_hsa034600.64638141
98p53 signaling pathway_Homo sapiens_hsa041150.63320077
99Metabolic pathways_Homo sapiens_hsa011000.62215968
100Maturity onset diabetes of the young_Homo sapiens_hsa049500.61381249
101Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.60854047
102Notch signaling pathway_Homo sapiens_hsa043300.60493730
103MAPK signaling pathway_Homo sapiens_hsa040100.59905260
104Adipocytokine signaling pathway_Homo sapiens_hsa049200.57585604
105Circadian entrainment_Homo sapiens_hsa047130.57323669
106Phenylalanine metabolism_Homo sapiens_hsa003600.56293294
107Systemic lupus erythematosus_Homo sapiens_hsa053220.56073518
108Oxytocin signaling pathway_Homo sapiens_hsa049210.55287744
109N-Glycan biosynthesis_Homo sapiens_hsa005100.54807481
110Asthma_Homo sapiens_hsa053100.54632779
111Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.54042574
112Glycerolipid metabolism_Homo sapiens_hsa005610.53218926
113Cocaine addiction_Homo sapiens_hsa050300.52972190
114Caffeine metabolism_Homo sapiens_hsa002320.52747793
115Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.52729773
116Chemical carcinogenesis_Homo sapiens_hsa052040.52683517
117Butanoate metabolism_Homo sapiens_hsa006500.52158149
118Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.51451865
119Sulfur metabolism_Homo sapiens_hsa009200.51110303
120Fatty acid elongation_Homo sapiens_hsa000620.50212619
121Antigen processing and presentation_Homo sapiens_hsa046120.49232397
122GABAergic synapse_Homo sapiens_hsa047270.48075195
123Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.48023515
124Fatty acid metabolism_Homo sapiens_hsa012120.47864023
125Autoimmune thyroid disease_Homo sapiens_hsa053200.46532543
126Lysosome_Homo sapiens_hsa041420.46105240
127Primary immunodeficiency_Homo sapiens_hsa053400.45268871
128Herpes simplex infection_Homo sapiens_hsa051680.45243076
129Olfactory transduction_Homo sapiens_hsa047400.45093990
130Tyrosine metabolism_Homo sapiens_hsa003500.44911910
131Vitamin digestion and absorption_Homo sapiens_hsa049770.43739716
132Taste transduction_Homo sapiens_hsa047420.41490487
133TNF signaling pathway_Homo sapiens_hsa046680.41276488
134Amphetamine addiction_Homo sapiens_hsa050310.39853689
135Rheumatoid arthritis_Homo sapiens_hsa053230.39206579
136Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.39174105
137Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.37942224
138Bladder cancer_Homo sapiens_hsa052190.37784322
139mRNA surveillance pathway_Homo sapiens_hsa030150.37714288
140NF-kappa B signaling pathway_Homo sapiens_hsa040640.37477212
141Collecting duct acid secretion_Homo sapiens_hsa049660.37203060
142Glucagon signaling pathway_Homo sapiens_hsa049220.37190770
143Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.36465824
144Carbohydrate digestion and absorption_Homo sapiens_hsa049730.36431120
145Glutamatergic synapse_Homo sapiens_hsa047240.36176556
146Vascular smooth muscle contraction_Homo sapiens_hsa042700.35882672
147Regulation of autophagy_Homo sapiens_hsa041400.35500907
148Viral carcinogenesis_Homo sapiens_hsa052030.34741142
149VEGF signaling pathway_Homo sapiens_hsa043700.34679753
150Lysine degradation_Homo sapiens_hsa003100.34416792
151Histidine metabolism_Homo sapiens_hsa003400.34370239
152cAMP signaling pathway_Homo sapiens_hsa040240.32957130
153Gastric acid secretion_Homo sapiens_hsa049710.32913710
154Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.32410229
155Retinol metabolism_Homo sapiens_hsa008300.32080042
156Longevity regulating pathway - mammal_Homo sapiens_hsa042110.32078486
157Steroid hormone biosynthesis_Homo sapiens_hsa001400.29034345
158Staphylococcus aureus infection_Homo sapiens_hsa051500.26711255
159Parkinsons disease_Homo sapiens_hsa050120.24664933
160Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.21685354
161Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.21581119
162Glycosaminoglycan degradation_Homo sapiens_hsa005310.21398341
163Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.21200221
164PPAR signaling pathway_Homo sapiens_hsa033200.20788644
165Central carbon metabolism in cancer_Homo sapiens_hsa052300.18687011
166HTLV-I infection_Homo sapiens_hsa051660.16751697
167Huntingtons disease_Homo sapiens_hsa050160.16479297
168Measles_Homo sapiens_hsa051620.15703408
169Apoptosis_Homo sapiens_hsa042100.15084633

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