PTS

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 enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.80868035
2ribosomal small subunit assembly (GO:0000028)5.53188485
3establishment of protein localization to mitochondrial membrane (GO:0090151)5.42916385
4mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.39072298
5antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.08081383
6energy coupled proton transport, down electrochemical gradient (GO:0015985)4.96288893
7ATP synthesis coupled proton transport (GO:0015986)4.96288893
8signal peptide processing (GO:0006465)4.94803399
9DNA deamination (GO:0045006)4.75518768
10respiratory electron transport chain (GO:0022904)4.70564151
11proteasome assembly (GO:0043248)4.65005316
12electron transport chain (GO:0022900)4.63024324
13chaperone-mediated protein transport (GO:0072321)4.60173805
14protein neddylation (GO:0045116)4.27873527
15antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.20930593
16antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.20930593
17platelet dense granule organization (GO:0060155)4.20609899
18water-soluble vitamin biosynthetic process (GO:0042364)4.07706955
19response to interferon-beta (GO:0035456)4.07152861
20polyketide metabolic process (GO:0030638)4.01106149
21doxorubicin metabolic process (GO:0044598)4.01106149
22daunorubicin metabolic process (GO:0044597)4.01106149
23antigen processing and presentation via MHC class Ib (GO:0002475)3.72325180
24endosome to pigment granule transport (GO:0043485)3.71647977
25endosome to melanosome transport (GO:0035646)3.71647977
26antigen processing and presentation of endogenous antigen (GO:0019883)3.66489499
27deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.62660004
28transcription elongation from RNA polymerase III promoter (GO:0006385)3.61180613
29termination of RNA polymerase III transcription (GO:0006386)3.61180613
30cullin deneddylation (GO:0010388)3.54222513
31respiratory chain complex IV assembly (GO:0008535)3.36407776
32defense response to protozoan (GO:0042832)3.33076559
33peptidyl-histidine modification (GO:0018202)3.32074522
34SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.29330899
35definitive hemopoiesis (GO:0060216)3.26563402
36protein targeting to mitochondrion (GO:0006626)3.25150398
37protein deneddylation (GO:0000338)3.23203175
38protein-cofactor linkage (GO:0018065)3.20296714
39cotranslational protein targeting to membrane (GO:0006613)3.20003510
40cytochrome complex assembly (GO:0017004)3.19851759
41protein localization to mitochondrion (GO:0070585)3.19014025
42protein targeting to ER (GO:0045047)3.16049532
43establishment of protein localization to mitochondrion (GO:0072655)3.14400286
44hydrogen ion transmembrane transport (GO:1902600)3.13533505
45response to protozoan (GO:0001562)3.09368194
46protein localization to endoplasmic reticulum (GO:0070972)3.08670300
47positive regulation of B cell differentiation (GO:0045579)3.07704771
48cellular response to interferon-beta (GO:0035458)3.01535563
49purine-containing compound salvage (GO:0043101)3.01400208
50positive regulation of gamma-delta T cell activation (GO:0046645)2.99191500
51regulation of hexokinase activity (GO:1903299)2.98915215
52regulation of glucokinase activity (GO:0033131)2.98915215
53inner mitochondrial membrane organization (GO:0007007)2.97140734
54establishment of protein localization to endoplasmic reticulum (GO:0072599)2.95155052
55nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.94420376
56exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.93437002
57positive regulation of T cell mediated cytotoxicity (GO:0001916)2.92712409
58proton transport (GO:0015992)2.91346450
59RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.91001200
60tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.91001200
61neutrophil activation involved in immune response (GO:0002283)2.90710730
62mast cell activation (GO:0045576)2.90678292
63organelle disassembly (GO:1903008)2.90480194
64rRNA modification (GO:0000154)2.89196589
65intracellular protein transmembrane import (GO:0044743)2.88734395
66behavioral response to nicotine (GO:0035095)2.88503994
67regulation of cellular amino acid metabolic process (GO:0006521)2.88446298
68DNA double-strand break processing (GO:0000729)2.88343916
69ATP biosynthetic process (GO:0006754)2.85977309
70negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.85851091
71hydrogen transport (GO:0006818)2.85296945
72lymphoid progenitor cell differentiation (GO:0002320)2.83602895
73positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.82635098
74metallo-sulfur cluster assembly (GO:0031163)2.82347775
75iron-sulfur cluster assembly (GO:0016226)2.82347775
76production of molecular mediator involved in inflammatory response (GO:0002532)2.82323248
77aminoglycoside antibiotic metabolic process (GO:0030647)2.81570862
78viral transcription (GO:0019083)2.79635140
79purine nucleoside triphosphate biosynthetic process (GO:0009145)2.79627073
80purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.75645662
81regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.73925364
82cellular response to exogenous dsRNA (GO:0071360)2.72198358
83mitochondrial transport (GO:0006839)2.71811693
84translational termination (GO:0006415)2.71323252
85toxin transport (GO:1901998)2.71088424
86negative regulation of phagocytosis (GO:0050765)2.70214559
87pseudouridine synthesis (GO:0001522)2.68698694
88ribonucleoprotein complex disassembly (GO:0032988)2.67186287
89valine metabolic process (GO:0006573)2.65619074
90regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.63899726
91DNA damage response, detection of DNA damage (GO:0042769)2.63376136
92protein complex biogenesis (GO:0070271)2.63329436
93regulation of T cell mediated cytotoxicity (GO:0001914)2.62634449
94regulation of B cell differentiation (GO:0045577)2.60302537
95CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.58075739
96mannosylation (GO:0097502)2.57820437
97negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.57665224
98negative regulation of ligase activity (GO:0051352)2.57665224
99telomere maintenance via semi-conservative replication (GO:0032201)2.57560369
100maturation of 5.8S rRNA (GO:0000460)2.57057380
101type I interferon signaling pathway (GO:0060337)2.56997067
102cellular response to type I interferon (GO:0071357)2.56997067
103myeloid dendritic cell activation (GO:0001773)2.56872436
104chromatin remodeling at centromere (GO:0031055)2.56366211
105response to type I interferon (GO:0034340)2.56211118
106response to interferon-alpha (GO:0035455)2.55935529
107CENP-A containing nucleosome assembly (GO:0034080)2.54962152
108glycoside metabolic process (GO:0016137)2.51746635
109positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.51057393
110purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)2.50355662
111anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.50191826
112secretory granule organization (GO:0033363)2.50097462
113GDP-mannose metabolic process (GO:0019673)2.49327533
114rRNA methylation (GO:0031167)2.49129986
115positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.48921343
116negative regulation of viral genome replication (GO:0045071)2.48511906
117translation (GO:0006412)2.47873083
118protein K6-linked ubiquitination (GO:0085020)2.47303994
119cellular ketone body metabolic process (GO:0046950)2.46370761
120response to peptidoglycan (GO:0032494)2.46121897
121L-fucose catabolic process (GO:0042355)2.45890849
122fucose catabolic process (GO:0019317)2.45890849
123L-fucose metabolic process (GO:0042354)2.45890849
124DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.45482928
125mature B cell differentiation involved in immune response (GO:0002313)2.45298418
126anterograde synaptic vesicle transport (GO:0048490)2.45262815
127cellular component biogenesis (GO:0044085)2.44051958
128regulation of mitochondrial translation (GO:0070129)2.43676699
129GTP biosynthetic process (GO:0006183)2.42928779
130translational elongation (GO:0006414)2.42837872
131detection of bacterium (GO:0016045)2.42734082
132megakaryocyte development (GO:0035855)2.42297367
133mitochondrial respiratory chain complex assembly (GO:0033108)2.41704566
134dopamine transport (GO:0015872)2.40846706
135detection of other organism (GO:0098543)2.40661300
136negative regulation of myeloid cell apoptotic process (GO:0033033)2.40656760
137response to redox state (GO:0051775)2.40373813
138signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.39904109
139signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.39904109
140signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.39904109
141tRNA processing (GO:0008033)2.39618875
142necroptotic process (GO:0070266)2.39428923
143ribonucleoside triphosphate biosynthetic process (GO:0009201)2.39312793
144immunoglobulin mediated immune response (GO:0016064)2.38907748
145resolution of meiotic recombination intermediates (GO:0000712)2.38741790
146L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.37727045
147negative regulation of erythrocyte differentiation (GO:0045647)2.37218465
148respiratory burst (GO:0045730)2.36862270
149signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.36434004
150intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.36434004
151antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.36005218
1527-methylguanosine mRNA capping (GO:0006370)2.35793280
153positive regulation of ligase activity (GO:0051351)2.35138653
154ubiquinone biosynthetic process (GO:0006744)2.34742034
155mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.33783512
156mitochondrial respiratory chain complex I assembly (GO:0032981)2.33783512
157NADH dehydrogenase complex assembly (GO:0010257)2.33783512
158transcription from mitochondrial promoter (GO:0006390)2.32959569
159Arp2/3 complex-mediated actin nucleation (GO:0034314)2.32049281
160regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.32033174
161antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.31796016
162ubiquinone metabolic process (GO:0006743)2.31447959
163nonmotile primary cilium assembly (GO:0035058)2.30851566
164nucleoside triphosphate biosynthetic process (GO:0009142)2.30608716
165positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.30423730
166preassembly of GPI anchor in ER membrane (GO:0016254)2.29939944
1677-methylguanosine RNA capping (GO:0009452)2.29493963
168RNA capping (GO:0036260)2.29493963
169signal transduction involved in cell cycle checkpoint (GO:0072395)2.28874799
170signal transduction involved in DNA damage checkpoint (GO:0072422)2.27223763
171signal transduction involved in DNA integrity checkpoint (GO:0072401)2.27223763
172ribosomal small subunit biogenesis (GO:0042274)2.27143898
173intracellular protein transmembrane transport (GO:0065002)2.26975112
174L-methionine biosynthetic process (GO:0071265)2.26435904
175amino acid salvage (GO:0043102)2.26435904
176T cell lineage commitment (GO:0002360)2.26419554
177aerobic respiration (GO:0009060)2.24311469
178telomere maintenance via recombination (GO:0000722)2.22869563
179regulation of B cell receptor signaling pathway (GO:0050855)2.21949140
180regulation of RIG-I signaling pathway (GO:0039535)2.20678426
181leukocyte degranulation (GO:0043299)2.19957972
182positive regulation of macrophage differentiation (GO:0045651)2.17562133
183viral life cycle (GO:0019058)2.15928367
184negative regulation of nitric oxide biosynthetic process (GO:0045019)2.15764011
185reactive oxygen species biosynthetic process (GO:1903409)2.14197754
186oxidative phosphorylation (GO:0006119)2.13205792
187G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.12763457

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human4.40777535
2ELF1_17652178_ChIP-ChIP_JURKAT_Human3.82904988
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.63058981
4IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.48688902
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.14950134
6SCL_19346495_ChIP-Seq_HPC-7_Human3.13502987
7SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.99839264
8GATA1_22025678_ChIP-Seq_K562_Human2.91001374
9* MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.88717032
10* FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.83996528
11KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.81866758
12GABP_17652178_ChIP-ChIP_JURKAT_Human2.78861906
13* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.72313886
14SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.57188286
15TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.47524519
16JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.42687450
17IRF8_21731497_ChIP-ChIP_J774_Mouse2.42258016
18EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.40284625
19ERG_20887958_ChIP-Seq_HPC-7_Mouse2.37392285
20ZNF274_21170338_ChIP-Seq_K562_Hela2.36970740
21HOXB4_20404135_ChIP-ChIP_EML_Mouse2.34696443
22BP1_19119308_ChIP-ChIP_Hs578T_Human2.33504030
23* LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.31451226
24E2F7_22180533_ChIP-Seq_HELA_Human2.30640510
25SRF_21415370_ChIP-Seq_HL-1_Mouse2.25668833
26NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.23098749
27VDR_22108803_ChIP-Seq_LS180_Human2.19680216
28EST1_17652178_ChIP-ChIP_JURKAT_Human2.18575367
29FUS_26573619_Chip-Seq_HEK293_Human2.16881760
30SPI1_23547873_ChIP-Seq_NB4_Human2.16679982
31POU3F2_20337985_ChIP-ChIP_501MEL_Human2.09487391
32IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.07990274
33* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.07942402
34ZFP57_27257070_Chip-Seq_ESCs_Mouse2.06919693
35VDR_23849224_ChIP-Seq_CD4+_Human2.06381967
36CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.05586929
37SFPI1_20887958_ChIP-Seq_HPC-7_Mouse2.04628288
38NOTCH1_21737748_ChIP-Seq_TLL_Human2.01177218
39MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.00781398
40MYB_21317192_ChIP-Seq_ERMYB_Mouse2.00268801
41SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.98888932
42HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.98246771
43GBX2_23144817_ChIP-Seq_PC3_Human1.98160232
44* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.96073578
45* STAT4_19710469_ChIP-ChIP_TH1__Mouse1.94853248
46CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.94664448
47EGR1_23403033_ChIP-Seq_LIVER_Mouse1.90702714
48PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.89137504
49TAF15_26573619_Chip-Seq_HEK293_Human1.88845655
50EWS_26573619_Chip-Seq_HEK293_Human1.88540315
51IGF1R_20145208_ChIP-Seq_DFB_Human1.88391009
52MYC_18555785_ChIP-Seq_MESCs_Mouse1.88131115
53NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.87564536
54HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.86487918
55* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.85998576
56TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.81717756
57FLI1_27457419_Chip-Seq_LIVER_Mouse1.81312839
58FOXP3_21729870_ChIP-Seq_TREG_Human1.75859242
59ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.75331338
60SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.73568140
61GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.72468279
62* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.69102241
63ETS1_20019798_ChIP-Seq_JURKAT_Human1.68460533
64NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.66934961
65P300_19829295_ChIP-Seq_ESCs_Human1.66074955
66STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.61935296
67PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.60335463
68ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.59615277
69* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.58321822
70HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.58255040
71MYC_18940864_ChIP-ChIP_HL60_Human1.57061327
72SALL1_21062744_ChIP-ChIP_HESCs_Human1.54484817
73IRF8_27001747_Chip-Seq_BMDM_Mouse1.54132448
74E2F1_18555785_ChIP-Seq_MESCs_Mouse1.52852507
75GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.51467379
76PADI4_21655091_ChIP-ChIP_MCF-7_Human1.51362118
77ELK1_19687146_ChIP-ChIP_HELA_Human1.49295149
78GATA1_22383799_ChIP-Seq_G1ME_Mouse1.48622183
79CREB1_15753290_ChIP-ChIP_HEK293T_Human1.47614543
80CTBP2_25329375_ChIP-Seq_LNCAP_Human1.47174878
81PCGF2_27294783_Chip-Seq_ESCs_Mouse1.45241340
82CTBP1_25329375_ChIP-Seq_LNCAP_Human1.43469396
83GATA2_22383799_ChIP-Seq_G1ME_Mouse1.40952025
84MYB_26560356_Chip-Seq_TH2_Human1.40912421
85DCP1A_22483619_ChIP-Seq_HELA_Human1.38780468
86STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.36268422
87BMI1_23680149_ChIP-Seq_NPCS_Mouse1.35811447
88RBPJ_22232070_ChIP-Seq_NCS_Mouse1.35640739
89GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.35063804
90GABP_19822575_ChIP-Seq_HepG2_Human1.34126924
91* RUNX1_22412390_ChIP-Seq_EML_Mouse1.33743248
92CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.33455914
93CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.31706537
94NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.30143572
95BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.25611043
96PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.25593783
97E2F4_17652178_ChIP-ChIP_JURKAT_Human1.25295697
98TTF2_22483619_ChIP-Seq_HELA_Human1.24864639
99MYC_19030024_ChIP-ChIP_MESCs_Mouse1.23822795
100RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.22938510
101CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.21555404
102SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.21290861
103FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.21118078
104MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.21077118
105TP53_22573176_ChIP-Seq_HFKS_Human1.19815828
106* VDR_24763502_ChIP-Seq_THP-1_Human1.19737070
107MYB_26560356_Chip-Seq_TH1_Human1.18441420
108STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.17504181
109PIAS1_25552417_ChIP-Seq_VCAP_Human1.17206765
110RXR_22158963_ChIP-Seq_LIVER_Mouse1.16517558
111AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.15614026
112UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.14399079
113GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.14009908
114HTT_18923047_ChIP-ChIP_STHdh_Human1.13148572
115ER_23166858_ChIP-Seq_MCF-7_Human1.12442545
116YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.12311459
117ELK1_22589737_ChIP-Seq_MCF10A_Human1.12296565
118NELFA_20434984_ChIP-Seq_ESCs_Mouse1.11868265
119BRD4_27068464_Chip-Seq_AML-cells_Mouse1.09302557
120XRN2_22483619_ChIP-Seq_HELA_Human1.09177918
121CIITA_25753668_ChIP-Seq_RAJI_Human1.08888382
122GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.08021607
123MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.07298390
124PU.1_20513432_ChIP-Seq_Bcells_Mouse1.06375789
125EZH2_27294783_Chip-Seq_NPCs_Mouse1.05226480
126TOP2B_26459242_ChIP-Seq_MCF-7_Human1.05031787
127VDR_21846776_ChIP-Seq_THP-1_Human1.04998861
128NANOG_19829295_ChIP-Seq_ESCs_Human1.04385945
129SOX2_19829295_ChIP-Seq_ESCs_Human1.04385945
130* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.04032766
131SUZ12_27294783_Chip-Seq_NPCs_Mouse1.03404915
132PPARA_22158963_ChIP-Seq_LIVER_Mouse1.03088169
133CBP_20019798_ChIP-Seq_JUKART_Human1.03042889
134IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.03042889
135* SMAD4_21799915_ChIP-Seq_A2780_Human1.02398593
136* RUNX_20019798_ChIP-Seq_JUKART_Human1.02148312
137EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.01970289
138* AR_25329375_ChIP-Seq_VCAP_Human1.01605003
139POU5F1_16153702_ChIP-ChIP_HESCs_Human1.01362018
140FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.01251040
141ZFX_18555785_ChIP-Seq_MESCs_Mouse1.01243265
142YY1_21170310_ChIP-Seq_MESCs_Mouse1.00868704
143KLF5_20875108_ChIP-Seq_MESCs_Mouse1.00063206
144OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.99735629
145DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.99559038
146CBX2_27304074_Chip-Seq_ESCs_Mouse0.99480638
147GATA3_26560356_Chip-Seq_TH2_Human0.99202788
148POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.99129209
149NFE2_27457419_Chip-Seq_LIVER_Mouse0.98665433
150CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.97559678
151SMAD3_21741376_ChIP-Seq_EPCs_Human0.96123138
152RNF2_27304074_Chip-Seq_NSC_Mouse0.96074704
153FOXA1_27270436_Chip-Seq_PROSTATE_Human0.95865790
154FOXA1_25329375_ChIP-Seq_VCAP_Human0.95865790
155HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.95687564
156CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.95613797
157NANOG_18555785_Chip-Seq_ESCs_Mouse0.95433339
158PU_27001747_Chip-Seq_BMDM_Mouse0.95286205
159MAF_26560356_Chip-Seq_TH1_Human0.94580996
160SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.93684720
161THAP11_20581084_ChIP-Seq_MESCs_Mouse0.93382506
162CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.93198145
163* SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.93139015
164PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.92561515
165ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.91810883
166MYC_22102868_ChIP-Seq_BL_Human0.91744897
167FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.90535654
168EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.89977271
169NANOG_16153702_ChIP-ChIP_HESCs_Human0.87988218
170BCAT_22108803_ChIP-Seq_LS180_Human0.87621526
171ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.87185392
172JUN_21703547_ChIP-Seq_K562_Human0.86028694
173TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.85771289

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation3.86839723
2MP0009785_altered_susceptibility_to3.10744432
3MP0005671_abnormal_response_to2.93261717
4MP0002837_dystrophic_cardiac_calcinosis2.91699265
5MP0003724_increased_susceptibility_to2.70221305
6MP0001529_abnormal_vocalization2.62499588
7MP0002396_abnormal_hematopoietic_system2.61447529
8MP0000685_abnormal_immune_system2.52320547
9MP0002148_abnormal_hypersensitivity_rea2.48600690
10MP0003436_decreased_susceptibility_to2.38995885
11MP0005025_abnormal_response_to2.27794731
12MP0005464_abnormal_platelet_physiology2.27442125
13MP0001986_abnormal_taste_sensitivity2.26905130
14MP0005000_abnormal_immune_tolerance2.17466891
15MP0004147_increased_porphyrin_level2.16993828
16MP0001853_heart_inflammation2.13309508
17MP0008877_abnormal_DNA_methylation2.11651167
18MP0002419_abnormal_innate_immunity2.11521253
19MP0002938_white_spotting2.06607696
20MP0003880_abnormal_central_pattern2.05667460
21MP0006072_abnormal_retinal_apoptosis2.05589486
22MP0002102_abnormal_ear_morphology2.03554186
23MP0001800_abnormal_humoral_immune2.02305453
24MP0002723_abnormal_immune_serum1.97695248
25MP0005387_immune_system_phenotype1.95803910
26MP0001790_abnormal_immune_system1.95803910
27MP0002452_abnormal_antigen_presenting1.95460453
28MP0003186_abnormal_redox_activity1.94414503
29MP0003763_abnormal_thymus_physiology1.93276748
30MP0001984_abnormal_olfaction1.92395923
31MP0009046_muscle_twitch1.92067913
32MP0002420_abnormal_adaptive_immunity1.90109288
33MP0002139_abnormal_hepatobiliary_system1.88983918
34MP0003191_abnormal_cellular_cholesterol1.87917583
35MP0001819_abnormal_immune_cell1.87646863
36MP0002909_abnormal_adrenal_gland1.84293657
37MP0002166_altered_tumor_susceptibility1.78237583
38MP0005174_abnormal_tail_pigmentation1.78026009
39MP0002163_abnormal_gland_morphology1.76722892
40MP0002398_abnormal_bone_marrow1.70385606
41MP0001873_stomach_inflammation1.70151727
42MP0005075_abnormal_melanosome_morpholog1.69249937
43MP0005397_hematopoietic_system_phenotyp1.68802828
44MP0001545_abnormal_hematopoietic_system1.68802828
45MP0000465_gastrointestinal_hemorrhage1.66998163
46MP0010155_abnormal_intestine_physiology1.65105867
47MP0001764_abnormal_homeostasis1.64426530
48MP0003718_maternal_effect1.63446002
49MP0002736_abnormal_nociception_after1.63184651
50MP0003787_abnormal_imprinting1.62698339
51MP0005365_abnormal_bile_salt1.62118497
52MP0005551_abnormal_eye_electrophysiolog1.61018972
53MP0003122_maternal_imprinting1.59052631
54MP0005058_abnormal_lysosome_morphology1.59015279
55MP0008469_abnormal_protein_level1.57502657
56MP0001845_abnormal_inflammatory_respons1.57366711
57MP0000716_abnormal_immune_system1.56713113
58MP0003121_genomic_imprinting1.54607756
59MP0003866_abnormal_defecation1.54476954
60MP0006035_abnormal_mitochondrial_morpho1.54087928
61MP0009697_abnormal_copulation1.53863393
62MP0004808_abnormal_hematopoietic_stem1.53825313
63MP0002132_abnormal_respiratory_system1.50641630
64MP0002877_abnormal_melanocyte_morpholog1.50461487
65MP0002095_abnormal_skin_pigmentation1.50348375
66MP0005084_abnormal_gallbladder_morpholo1.50290799
67MP0000689_abnormal_spleen_morphology1.50149907
68MP0005379_endocrine/exocrine_gland_phen1.48246898
69MP0009745_abnormal_behavioral_response1.47944257
70MP0002006_tumorigenesis1.47356644
71MP0008875_abnormal_xenobiotic_pharmacok1.47163940
72* MP0001905_abnormal_dopamine_level1.46626066
73MP0009379_abnormal_foot_pigmentation1.46264425
74MP0009764_decreased_sensitivity_to1.45818311
75MP0004782_abnormal_surfactant_physiolog1.45179501
76MP0004133_heterotaxia1.43899170
77MP0006054_spinal_hemorrhage1.42691971
78MP0002272_abnormal_nervous_system1.42045823
79MP0002429_abnormal_blood_cell1.41524572
80MP0000490_abnormal_crypts_of1.40027344
81MP0001968_abnormal_touch/_nociception1.39398841
82MP0002722_abnormal_immune_system1.38910156
83MP0003183_abnormal_peptide_metabolism1.38681915
84MP0002405_respiratory_system_inflammati1.38533401
85MP0000631_abnormal_neuroendocrine_gland1.37287832
86MP0006036_abnormal_mitochondrial_physio1.36405107
87MP0002160_abnormal_reproductive_system1.35968324
88* MP0004142_abnormal_muscle_tone1.35064567
89MP0006292_abnormal_olfactory_placode1.33720832
90MP0002876_abnormal_thyroid_physiology1.32854188
91MP0004215_abnormal_myocardial_fiber1.32163030
92MP0006276_abnormal_autonomic_nervous1.31798307
93MP0002638_abnormal_pupillary_reflex1.31271306
94MP0003806_abnormal_nucleotide_metabolis1.29721267
95MP0005253_abnormal_eye_physiology1.28491230
96MP0003123_paternal_imprinting1.26489727
97MP0000569_abnormal_digit_pigmentation1.25495183
98MP0002693_abnormal_pancreas_physiology1.24463560
99MP0005085_abnormal_gallbladder_physiolo1.24424050
100MP0008789_abnormal_olfactory_epithelium1.24229673
101MP0003941_abnormal_skin_development1.23528702
102MP0002734_abnormal_mechanical_nocicepti1.23157096
103MP0003786_premature_aging1.22592373
104MP0001188_hyperpigmentation1.22168930
105MP0009333_abnormal_splenocyte_physiolog1.21214223
106MP0003656_abnormal_erythrocyte_physiolo1.20780089
107MP0002090_abnormal_vision1.20431427
108MP0005408_hypopigmentation1.20142516
109MP0005645_abnormal_hypothalamus_physiol1.19779864
110MP0003937_abnormal_limbs/digits/tail_de1.18680170
111MP0003890_abnormal_embryonic-extraembry1.15498879
112MP0006082_CNS_inflammation1.15089472
113MP0004270_analgesia1.14828001
114MP0008995_early_reproductive_senescence1.12716067
115MP0000681_abnormal_thyroid_gland1.12438635
116MP0009643_abnormal_urine_homeostasis1.11527874
117MP0003943_abnormal_hepatobiliary_system1.09338335
118MP0002184_abnormal_innervation1.08677535
119MP0009780_abnormal_chondrocyte_physiolo1.08568499
120MP0005360_urolithiasis1.08395424
121MP0002822_catalepsy1.08374983
122MP0008007_abnormal_cellular_replicative1.07942722
123MP0008872_abnormal_physiological_respon1.07182500
124MP0005636_abnormal_mineral_homeostasis1.06515504
125MP0001533_abnormal_skeleton_physiology1.06177754
126MP0004924_abnormal_behavior1.04222932
127MP0005386_behavior/neurological_phenoty1.04222932
128MP0003195_calcinosis1.02993787
129* MP0005332_abnormal_amino_acid1.02394409
130MP0002557_abnormal_social/conspecific_i1.01578823
131MP0001486_abnormal_startle_reflex1.01138137
132MP0000516_abnormal_urinary_system1.01101451
133MP0005367_renal/urinary_system_phenotyp1.01101451
134MP0000343_altered_response_to1.00326611
135MP0002751_abnormal_autonomic_nervous0.99697861
136MP0002572_abnormal_emotion/affect_behav0.99682547
137MP0000639_abnormal_adrenal_gland0.98666128
138MP0005389_reproductive_system_phenotype0.98611319
139MP0002064_seizures0.97710935
140MP0001485_abnormal_pinna_reflex0.96453774
141MP0000372_irregular_coat_pigmentation0.95998582
142MP0000015_abnormal_ear_pigmentation0.95868038
143MP0008058_abnormal_DNA_repair0.94319211
144MP0005220_abnormal_exocrine_pancreas0.94173781
145MP0003011_delayed_dark_adaptation0.93235281
146MP0005646_abnormal_pituitary_gland0.92617880
147MP0002234_abnormal_pharynx_morphology0.92133609
148MP0009763_increased_sensitivity_to0.91683083
149MP0003693_abnormal_embryo_hatching0.91664244
150MP0001663_abnormal_digestive_system0.91046548
151MP0003868_abnormal_feces_composition0.90611270
152MP0005584_abnormal_enzyme/coenzyme_acti0.90065008
153MP0004957_abnormal_blastocyst_morpholog0.90029827
154MP0004742_abnormal_vestibular_system0.87586884
155MP0002138_abnormal_hepatobiliary_system0.86728974
156MP0000647_abnormal_sebaceous_gland0.86166274
157MP0000703_abnormal_thymus_morphology0.85822260
158* MP0005319_abnormal_enzyme/_coenzyme0.85707154
159MP0003283_abnormal_digestive_organ0.85580837
160MP0005187_abnormal_penis_morphology0.84892382
161MP0003137_abnormal_impulse_conducting0.84837395
162MP0003119_abnormal_digestive_system0.84319215
163MP0003172_abnormal_lysosome_physiology0.83877851
164MP0000858_altered_metastatic_potential0.83145293
165MP0001944_abnormal_pancreas_morphology0.83045252
166MP0010386_abnormal_urinary_bladder0.82782878
167MP0004043_abnormal_pH_regulation0.81834881
168MP0004145_abnormal_muscle_electrophysio0.81772295
169MP0003635_abnormal_synaptic_transmissio0.81571262
170MP0000538_abnormal_urinary_bladder0.81266486
171MP0005195_abnormal_posterior_eye0.81000043
172MP0000427_abnormal_hair_cycle0.80988862
173* MP0002067_abnormal_sensory_capabilities0.80702883
174MP0000013_abnormal_adipose_tissue0.80042048
175MP0010329_abnormal_lipoprotein_level0.79666799
176MP0001293_anophthalmia0.78237746
177MP0002233_abnormal_nose_morphology0.77710810
178MP0000049_abnormal_middle_ear0.77536540

Predicted human phenotypes

RankGene SetZ-score
1Progressive macrocephaly (HP:0004481)4.77455530
2Increased hepatocellular lipid droplets (HP:0006565)4.07566939
3Generalized aminoaciduria (HP:0002909)3.82286524
4Aplastic anemia (HP:0001915)3.81851742
5Reduced antithrombin III activity (HP:0001976)3.81074833
6Type I transferrin isoform profile (HP:0003642)3.74292848
7IgM deficiency (HP:0002850)3.62216361
8Elevated erythrocyte sedimentation rate (HP:0003565)3.55631638
9Cerebral edema (HP:0002181)3.47843216
10Thrombocytosis (HP:0001894)3.47102922
11Recurrent abscess formation (HP:0002722)3.46652969
12Petechiae (HP:0000967)3.22177486
13Recurrent bacterial skin infections (HP:0005406)3.22152447
14Hypothermia (HP:0002045)3.17282329
15Hepatic necrosis (HP:0002605)3.14216357
16Myositis (HP:0100614)3.13276698
17Abnormal isoelectric focusing of serum transferrin (HP:0003160)3.10309296
18Abnormal protein N-linked glycosylation (HP:0012347)3.10309296
19Abnormal protein glycosylation (HP:0012346)3.10309296
20Abnormal glycosylation (HP:0012345)3.10309296
21Molar tooth sign on MRI (HP:0002419)3.07601112
22Abnormality of midbrain morphology (HP:0002418)3.07601112
23Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.06885842
24Decreased activity of mitochondrial respiratory chain (HP:0008972)3.06885842
25Methylmalonic acidemia (HP:0002912)3.00793090
26Pancreatic fibrosis (HP:0100732)2.99583885
27Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.95807309
28Abnormality of alanine metabolism (HP:0010916)2.95807309
29Hyperalaninemia (HP:0003348)2.95807309
30Abnormal number of erythroid precursors (HP:0012131)2.94316567
31Pancreatic cysts (HP:0001737)2.91802821
32Abnormality of cells of the erythroid lineage (HP:0012130)2.75212702
33Vacuolated lymphocytes (HP:0001922)2.74291291
34Hepatocellular necrosis (HP:0001404)2.74255096
35Hypoplasia of the thymus (HP:0000778)2.74057721
36True hermaphroditism (HP:0010459)2.72624278
37Chronic otitis media (HP:0000389)2.70471904
38Hypoglycemic coma (HP:0001325)2.69901961
39Abnormality of B cell number (HP:0010975)2.68472490
40B lymphocytopenia (HP:0010976)2.68472490
41Prolonged bleeding time (HP:0003010)2.68360340
423-Methylglutaconic aciduria (HP:0003535)2.63181662
43Medial flaring of the eyebrow (HP:0010747)2.62063895
44Abnormality of T cell physiology (HP:0011840)2.56592992
45Respiratory failure (HP:0002878)2.56211022
46Abnormality of fatty-acid metabolism (HP:0004359)2.55054603
47Nephronophthisis (HP:0000090)2.51140386
48Abnormality of renal resorption (HP:0011038)2.50155843
49Type 2 muscle fiber atrophy (HP:0003554)2.47627957
50Epistaxis (HP:0000421)2.46545532
51Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.46397171
52Optic disc pallor (HP:0000543)2.44197228
53Abnormality of the heme biosynthetic pathway (HP:0010472)2.41674276
54Exertional dyspnea (HP:0002875)2.40157279
55Methylmalonic aciduria (HP:0012120)2.39065668
56Exercise intolerance (HP:0003546)2.36262736
57Leukodystrophy (HP:0002415)2.35345008
58Hyperinsulinemic hypoglycemia (HP:0000825)2.32777940
59Congenital, generalized hypertrichosis (HP:0004540)2.31690306
60Limb dystonia (HP:0002451)2.31248142
61Abnormality of methionine metabolism (HP:0010901)2.30725581
62Muscle fiber atrophy (HP:0100295)2.29611865
63Mitochondrial inheritance (HP:0001427)2.29162835
64Eczematoid dermatitis (HP:0000976)2.28732138
65Microvesicular hepatic steatosis (HP:0001414)2.27759460
66Beaking of vertebral bodies (HP:0004568)2.25657664
67Gait imbalance (HP:0002141)2.25583589
68Abnormal delayed hypersensitivity skin test (HP:0002963)2.22395857
69Lethargy (HP:0001254)2.20222467
70Congenital primary aphakia (HP:0007707)2.19762197
71Panhypogammaglobulinemia (HP:0003139)2.19336036
72Renal cortical cysts (HP:0000803)2.18910657
73Abnormality of the labia minora (HP:0012880)2.18580806
74Abnormality of vitamin B metabolism (HP:0004340)2.17793701
75Increased muscle lipid content (HP:0009058)2.17705678
76Reticulocytopenia (HP:0001896)2.16536171
77Abnormality of macrophages (HP:0004311)2.14950383
78Increased serum pyruvate (HP:0003542)2.14192290
79Increased neuronal autofluorescent lipopigment (HP:0002074)2.12980530
80Hypoglycemic seizures (HP:0002173)2.12672801
81Abnormal mitochondria in muscle tissue (HP:0008316)2.11861237
82X-linked dominant inheritance (HP:0001423)2.11277800
83Meningitis (HP:0001287)2.11250567
84Increased intramyocellular lipid droplets (HP:0012240)2.09244189
85Abnormality of dicarboxylic acid metabolism (HP:0010995)2.09180841
86Dicarboxylic aciduria (HP:0003215)2.09180841
87Recurrent viral infections (HP:0004429)2.07934925
88Abnormality of T cells (HP:0002843)2.07921402
89Neutropenia (HP:0001875)2.06049051
90Recurrent skin infections (HP:0001581)2.04767029
91Abnormality of the intrinsic pathway (HP:0010989)2.04651062
92Recurrent bronchitis (HP:0002837)2.04012966
93Purpura (HP:0000979)2.03646779
94Increased CSF lactate (HP:0002490)2.02977538
95Nephrogenic diabetes insipidus (HP:0009806)2.02637727
96IgG deficiency (HP:0004315)2.02185834
97Symptomatic seizures (HP:0011145)2.01950310
98Acute necrotizing encephalopathy (HP:0006965)1.99206103
99Hyperbilirubinemia (HP:0002904)1.99105368
100Absent rod-and cone-mediated responses on ERG (HP:0007688)1.99071690
101Aplasia/hypoplasia of the uterus (HP:0008684)1.98690371
102Male pseudohermaphroditism (HP:0000037)1.97926727
103Microcytic anemia (HP:0001935)1.97252421
104Vasculitis (HP:0002633)1.96747226
105Abnormality of serum amino acid levels (HP:0003112)1.95977577
106Hyperphosphaturia (HP:0003109)1.95920136
107Lactic acidosis (HP:0003128)1.95678333
108Orchitis (HP:0100796)1.95181605
109Mediastinal lymphadenopathy (HP:0100721)1.95051439
110Abnormality of the renal cortex (HP:0011035)1.94764011
111Encephalitis (HP:0002383)1.94298185
112Abnormality of the renal medulla (HP:0100957)1.93976436
113Impaired platelet aggregation (HP:0003540)1.93759774
114Abnormal platelet function (HP:0011869)1.93759774
115Abnormality of urine glucose concentration (HP:0011016)1.93530252
116Glycosuria (HP:0003076)1.93530252
117Sclerocornea (HP:0000647)1.93442890
118Prolonged partial thromboplastin time (HP:0003645)1.92824903
119Nausea (HP:0002018)1.92375685
120Intestinal atresia (HP:0011100)1.91725492
121Abnormality of aspartate family amino acid metabolism (HP:0010899)1.91653335
122Poor head control (HP:0002421)1.91611277
123Renal Fanconi syndrome (HP:0001994)1.90721715
124Abnormality of the prostate (HP:0008775)1.90334700
125Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.90089136
126Thyroid-stimulating hormone excess (HP:0002925)1.89095094
127Spontaneous hematomas (HP:0007420)1.89086758
128CNS demyelination (HP:0007305)1.87861436
129Lipid accumulation in hepatocytes (HP:0006561)1.87825279
130Cerebral palsy (HP:0100021)1.87602295
131Large for gestational age (HP:0001520)1.86708786
132Recurrent gram-negative bacterial infections (HP:0005420)1.85688337
133Genital tract atresia (HP:0001827)1.85586466
134Hypoproteinemia (HP:0003075)1.85123539
135Proximal tubulopathy (HP:0000114)1.84856263
136Gastrointestinal stroma tumor (HP:0100723)1.84420491
137Abnormality of glycolysis (HP:0004366)1.84280329
138Myokymia (HP:0002411)1.83732164
139Pancytopenia (HP:0001876)1.83731538
140Recurrent fungal infections (HP:0002841)1.83638438
141Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.82674890
142Acute encephalopathy (HP:0006846)1.82633321
143Lymphopenia (HP:0001888)1.82610400
144Ketoacidosis (HP:0001993)1.80877099
145Gingival bleeding (HP:0000225)1.80506464
146Increased serum lactate (HP:0002151)1.80179312
147Periodontitis (HP:0000704)1.79347090
148Respiratory difficulties (HP:0002880)1.77923567
149Aplasia/Hypoplasia of the tongue (HP:0010295)1.77767561
150Abnormality of the vitamin B12 metabolism (HP:0004341)1.77007423
151Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.77002662
152Joint hemorrhage (HP:0005261)1.76673669
153Vaginal atresia (HP:0000148)1.76115147
154Macrocytic anemia (HP:0001972)1.76016374
155Hyperglycinemia (HP:0002154)1.75676678
156Adrenal hypoplasia (HP:0000835)1.73470308
157Delayed gross motor development (HP:0002194)1.70684356
158Megaloblastic anemia (HP:0001889)1.69919980
159Furrowed tongue (HP:0000221)1.69632552
160Type II lissencephaly (HP:0007260)1.66826649
161Anencephaly (HP:0002323)1.63735019
162Blindness (HP:0000618)1.63334119
163Short tibia (HP:0005736)1.60840428
164Abnormality of vitamin metabolism (HP:0100508)1.57826876
165Neuroendocrine neoplasm (HP:0100634)1.57574895
166Hypomagnesemia (HP:0002917)1.56181783
167EEG with generalized epileptiform discharges (HP:0011198)1.52331104
168Aplasia/Hypoplasia of the tibia (HP:0005772)1.52209690
169Cystic liver disease (HP:0006706)1.52035579
170Pendular nystagmus (HP:0012043)1.51979623

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK163.35228030
2FLT33.11396980
3FRK3.11047439
4KIT2.93836676
5TEC2.84707402
6TRIM282.73175388
7WNK32.48788109
8NME22.46761040
9MAP3K122.42736895
10MAP4K12.32011500
11TXK2.25359342
12BCKDK2.24757601
13IRAK42.22763925
14MAP4K22.21673190
15BTK2.18101482
16TNIK2.11289128
17IRAK32.07837285
18MAP3K142.04823813
19BLK1.96518194
20PIM21.96157804
21NME11.92535318
22MUSK1.85808100
23PNCK1.79809759
24TBK11.77735015
25TSSK61.71671278
26ZAP701.70719628
27CASK1.69568194
28CDK81.65023236
29EIF2AK31.57684660
30IKBKE1.56561934
31PLK31.55370410
32ADRBK21.53107638
33PDK21.52812467
34PLK41.52599928
35NLK1.51592149
36MAP3K41.50111910
37VRK11.50081587
38ERN11.48363893
39JAK31.45785419
40SYK1.44983551
41TAOK31.44900159
42BCR1.38710077
43PLK21.38177517
44PASK1.37529251
45MARK11.37401195
46TGFBR11.33607103
47PIK3CG1.32396437
48MAPK131.31705598
49TGFBR21.31695069
50NEK11.30564637
51MATK1.28977591
52DYRK21.28449406
53IKBKB1.28254164
54TYK21.27380760
55CSF1R1.25972652
56CSNK1G11.24696139
57LIMK11.24540891
58PHKG11.23146972
59PHKG21.23146972
60BRSK21.22546347
61CSNK1G31.19777228
62LYN1.18042884
63MYLK1.17888646
64CSNK1G21.17379852
65PAK31.15140295
66NUAK11.14425187
67STK391.14211513
68MST41.10927389
69SIK31.08035636
70ACVR1B1.08034313
71CAMKK21.07883319
72VRK21.06935666
73INSRR1.06595468
74OXSR11.06259119
75PBK1.05064047
76KDR1.03546924
77CCNB11.01919454
78RPS6KA41.01351524
79WNK40.99909966
80PRKCG0.97529139
81PRKCE0.95758601
82TIE10.95141108
83MAP2K60.93105306
84TNK20.92812246
85PLK10.92744128
86WEE10.91428389
87MAP2K30.91005258
88CDC70.88736502
89TTK0.86481577
90STK38L0.86217989
91MAPK150.85336221
92EIF2AK10.84893902
93CDK190.84860771
94RIPK40.84186508
95ITK0.82490886
96CSNK1A1L0.81775023
97MINK10.80869269
98ZAK0.79675006
99DYRK30.78268817
100NTRK30.77573916
101LCK0.77531258
102PIM10.73641802
103EIF2AK20.73375811
104YES10.73242455
105CHUK0.71806343
106MAPKAPK50.69657688
107IRAK10.69435611
108NEK90.67827501
109ERBB40.67278256
110TLK10.65869287
111BMPR20.65416290
112ERBB30.64674346
113HIPK20.63333063
114PRKCI0.62891134
115TAF10.62599981
116MKNK10.62338297
117STK240.60276480
118SRPK10.59948265
119RPS6KB20.58793295
120CAMK2A0.57953081
121ADRBK10.57789016
122CAMK2D0.57244572
123OBSCN0.55368048
124STK30.55017507
125CSNK2A20.53140522
126BMPR1B0.52212367
127MAPK40.51611459
128ATR0.51564823
129ILK0.50788763
130BUB10.50646695
131CSNK1A10.48960683
132CSNK1E0.48524436
133FGFR20.48435697
134PINK10.47698685
135BRSK10.46800612
136CSNK2A10.46755324
137GRK70.46454546
138RPS6KA60.45938120
139CDK70.45582854
140CAMK2G0.45157571
141RPS6KB10.44809279
142MAP3K30.44356588
143TRPM70.43339651
144ARAF0.43330301
145PRKACA0.43033819
146ABL20.42604062
147CLK10.41254492
148GRK10.41023483
149MKNK20.40872334
150FES0.40707700
151MAPKAPK30.40494937
152AURKB0.40255822
153MAPK110.39704699
154DAPK10.39306110
155MAP2K70.38956538
156UHMK10.38852892
157PRKCD0.38824335
158CDK30.38004791
159CAMK10.37319640
160RPS6KA50.37252786
161CHEK20.36845060
162TESK10.36085266

Predicted pathways (KEGG)

RankGene SetZ-score
1Protein export_Homo sapiens_hsa030603.84559481
2Ribosome_Homo sapiens_hsa030103.04408157
3DNA replication_Homo sapiens_hsa030302.73561101
4Maturity onset diabetes of the young_Homo sapiens_hsa049502.55919185
5Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.34383842
6Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.18473366
7Sulfur metabolism_Homo sapiens_hsa009202.00209338
8Cardiac muscle contraction_Homo sapiens_hsa042601.91969584
9Other glycan degradation_Homo sapiens_hsa005111.90757698
10Base excision repair_Homo sapiens_hsa034101.87198620
11Pyrimidine metabolism_Homo sapiens_hsa002401.84855424
12Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.79037308
13Mismatch repair_Homo sapiens_hsa034301.72845251
14Primary immunodeficiency_Homo sapiens_hsa053401.71379530
15SNARE interactions in vesicular transport_Homo sapiens_hsa041301.71359761
16Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.70695110
17Pentose and glucuronate interconversions_Homo sapiens_hsa000401.69033833
18Proteasome_Homo sapiens_hsa030501.66335579
19Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.64636409
20Drug metabolism - other enzymes_Homo sapiens_hsa009831.52007364
21Non-homologous end-joining_Homo sapiens_hsa034501.50510834
22N-Glycan biosynthesis_Homo sapiens_hsa005101.50445918
23Intestinal immune network for IgA production_Homo sapiens_hsa046721.50134940
24Peroxisome_Homo sapiens_hsa041461.49928290
25Collecting duct acid secretion_Homo sapiens_hsa049661.49148936
26Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.48914067
27Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.48627490
28Butanoate metabolism_Homo sapiens_hsa006501.48490610
29Homologous recombination_Homo sapiens_hsa034401.47807838
30RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.46864927
31Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.46049078
32Legionellosis_Homo sapiens_hsa051341.45215217
33Hematopoietic cell lineage_Homo sapiens_hsa046401.43252597
34RNA polymerase_Homo sapiens_hsa030201.39543927
35Vitamin B6 metabolism_Homo sapiens_hsa007501.37445372
36Sulfur relay system_Homo sapiens_hsa041221.37050337
37Leishmaniasis_Homo sapiens_hsa051401.35164379
38Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.33820619
39Caffeine metabolism_Homo sapiens_hsa002321.30172496
40Nicotine addiction_Homo sapiens_hsa050331.27573154
41Galactose metabolism_Homo sapiens_hsa000521.23496522
42Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.22944097
43Pyruvate metabolism_Homo sapiens_hsa006201.18723515
44Nucleotide excision repair_Homo sapiens_hsa034201.18250110
45NF-kappa B signaling pathway_Homo sapiens_hsa040641.16270916
46Oxidative phosphorylation_Homo sapiens_hsa001901.15810983
47Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.15172517
48Antigen processing and presentation_Homo sapiens_hsa046121.15116789
49Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.12260184
50Parkinsons disease_Homo sapiens_hsa050121.10038510
51Selenocompound metabolism_Homo sapiens_hsa004501.09869536
52Steroid biosynthesis_Homo sapiens_hsa001001.08547017
53Herpes simplex infection_Homo sapiens_hsa051681.08034535
54Fatty acid degradation_Homo sapiens_hsa000711.07214978
55Phototransduction_Homo sapiens_hsa047441.05974290
56Measles_Homo sapiens_hsa051621.04791341
57Allograft rejection_Homo sapiens_hsa053301.04666541
58Glycosaminoglycan degradation_Homo sapiens_hsa005311.02052990
59Primary bile acid biosynthesis_Homo sapiens_hsa001201.01304236
60Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.00271381
61Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.96625282
62Histidine metabolism_Homo sapiens_hsa003400.96481645
63RNA transport_Homo sapiens_hsa030130.95932512
64Purine metabolism_Homo sapiens_hsa002300.95731487
65Cysteine and methionine metabolism_Homo sapiens_hsa002700.94108554
66Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.92619958
67Pertussis_Homo sapiens_hsa051330.92574488
68Staphylococcus aureus infection_Homo sapiens_hsa051500.91122981
69Toll-like receptor signaling pathway_Homo sapiens_hsa046200.90295687
70Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.89993649
71Starch and sucrose metabolism_Homo sapiens_hsa005000.88902456
72Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.87520268
73Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.86289791
74Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.86231162
75* Folate biosynthesis_Homo sapiens_hsa007900.86076943
76Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.85675683
77Chemical carcinogenesis_Homo sapiens_hsa052040.85623031
78Asthma_Homo sapiens_hsa053100.84779601
79Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.82710114
80NOD-like receptor signaling pathway_Homo sapiens_hsa046210.82694916
81Propanoate metabolism_Homo sapiens_hsa006400.80811553
82Tryptophan metabolism_Homo sapiens_hsa003800.80318397
83Jak-STAT signaling pathway_Homo sapiens_hsa046300.79823990
84RNA degradation_Homo sapiens_hsa030180.78936832
85beta-Alanine metabolism_Homo sapiens_hsa004100.76293031
86Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.73710942
87Pentose phosphate pathway_Homo sapiens_hsa000300.73085841
88Synaptic vesicle cycle_Homo sapiens_hsa047210.72089077
89B cell receptor signaling pathway_Homo sapiens_hsa046620.71446908
90GABAergic synapse_Homo sapiens_hsa047270.71352139
91ABC transporters_Homo sapiens_hsa020100.70118409
92Lysosome_Homo sapiens_hsa041420.68904367
93Spliceosome_Homo sapiens_hsa030400.68549687
94Nitrogen metabolism_Homo sapiens_hsa009100.66982760
95Malaria_Homo sapiens_hsa051440.66943324
96Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.66420227
97Fatty acid elongation_Homo sapiens_hsa000620.64785381
98Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.64622259
99Vibrio cholerae infection_Homo sapiens_hsa051100.64128250
100Arachidonic acid metabolism_Homo sapiens_hsa005900.63574132
101Graft-versus-host disease_Homo sapiens_hsa053320.63324942
102Retinol metabolism_Homo sapiens_hsa008300.63163205
103Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.62948721
104Type I diabetes mellitus_Homo sapiens_hsa049400.62933305
105Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.61955320
106Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.61771676
107Insulin secretion_Homo sapiens_hsa049110.61697147
108* Metabolic pathways_Homo sapiens_hsa011000.61516251
109Basal transcription factors_Homo sapiens_hsa030220.60957362
110Rheumatoid arthritis_Homo sapiens_hsa053230.58964259
111Alzheimers disease_Homo sapiens_hsa050100.57308731
112One carbon pool by folate_Homo sapiens_hsa006700.56544450
113Linoleic acid metabolism_Homo sapiens_hsa005910.55496699
114Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.55358582
115Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.54721534
116Circadian rhythm_Homo sapiens_hsa047100.54407053
117Regulation of autophagy_Homo sapiens_hsa041400.54346339
118Influenza A_Homo sapiens_hsa051640.54212897
119Glutathione metabolism_Homo sapiens_hsa004800.53596071
120Taste transduction_Homo sapiens_hsa047420.53061120
121Arginine and proline metabolism_Homo sapiens_hsa003300.52369023
122Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.52346242
123Morphine addiction_Homo sapiens_hsa050320.52205039
124Transcriptional misregulation in cancer_Homo sapiens_hsa052020.51945651
125Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.50761081
126Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.50757170
127Huntingtons disease_Homo sapiens_hsa050160.50344846
128Fanconi anemia pathway_Homo sapiens_hsa034600.50204718
129Complement and coagulation cascades_Homo sapiens_hsa046100.50203428
130Dopaminergic synapse_Homo sapiens_hsa047280.48299470
131Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.47826210
132Fructose and mannose metabolism_Homo sapiens_hsa000510.46746381
133Mineral absorption_Homo sapiens_hsa049780.46671613
134Steroid hormone biosynthesis_Homo sapiens_hsa001400.46475066
135Oocyte meiosis_Homo sapiens_hsa041140.46075482
136Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.45991561
137Ether lipid metabolism_Homo sapiens_hsa005650.43375173
138Cocaine addiction_Homo sapiens_hsa050300.43297751
139Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.41641572
140Serotonergic synapse_Homo sapiens_hsa047260.40294199
141Fatty acid metabolism_Homo sapiens_hsa012120.39313658
142Tyrosine metabolism_Homo sapiens_hsa003500.33986556
143Circadian entrainment_Homo sapiens_hsa047130.33426962
1442-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.33192213
145Vitamin digestion and absorption_Homo sapiens_hsa049770.32508740

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