MTHFS

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 that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.49505403
2proteasome assembly (GO:0043248)5.42739046
3neutrophil activation involved in immune response (GO:0002283)5.38556342
4chaperone-mediated protein transport (GO:0072321)4.96382304
5ATP synthesis coupled proton transport (GO:0015986)4.82104132
6energy coupled proton transport, down electrochemical gradient (GO:0015985)4.82104132
7mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.67281832
8respiratory electron transport chain (GO:0022904)4.41653628
9regulation of mitochondrial translation (GO:0070129)4.39127780
10establishment of protein localization to mitochondrial membrane (GO:0090151)4.36330625
11electron transport chain (GO:0022900)4.32083422
12respiratory chain complex IV assembly (GO:0008535)4.12050788
13protein complex biogenesis (GO:0070271)4.11308916
14antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.06071962
15response to peptidoglycan (GO:0032494)3.99648659
16protein neddylation (GO:0045116)3.94212963
17mitochondrial respiratory chain complex assembly (GO:0033108)3.93319634
18pseudouridine synthesis (GO:0001522)3.93216816
19mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.90668433
20mitochondrial respiratory chain complex I assembly (GO:0032981)3.90668433
21NADH dehydrogenase complex assembly (GO:0010257)3.90668433
22erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.89328020
23L-phenylalanine catabolic process (GO:0006559)3.89328020
24water-soluble vitamin biosynthetic process (GO:0042364)3.84040097
25maturation of SSU-rRNA (GO:0030490)3.78824518
26erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.76584835
27L-phenylalanine metabolic process (GO:0006558)3.76584835
28protein targeting to mitochondrion (GO:0006626)3.76257683
29granulocyte activation (GO:0036230)3.76207583
30termination of RNA polymerase III transcription (GO:0006386)3.74131124
31transcription elongation from RNA polymerase III promoter (GO:0006385)3.74131124
32cytochrome complex assembly (GO:0017004)3.72552189
33neutrophil activation (GO:0042119)3.69609482
34ribosomal small subunit biogenesis (GO:0042274)3.69361724
35regulation of activation of Janus kinase activity (GO:0010533)3.68719474
36rRNA modification (GO:0000154)3.67419767
37negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.66034709
38regulation of cellular amino acid metabolic process (GO:0006521)3.65257151
39DNA deamination (GO:0045006)3.54110399
40central nervous system myelination (GO:0022010)3.50739202
41axon ensheathment in central nervous system (GO:0032291)3.50739202
42positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)3.47202876
43respiratory burst (GO:0045730)3.46346975
44regulation of T-helper 1 cell differentiation (GO:0045625)3.40925496
45ribosomal small subunit assembly (GO:0000028)3.40855260
46regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.38796695
47positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.38641959
48T-helper 1 type immune response (GO:0042088)3.36409655
49ribosomal large subunit biogenesis (GO:0042273)3.35800443
50establishment of protein localization to mitochondrion (GO:0072655)3.35419387
51negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.34668701
52negative regulation of ligase activity (GO:0051352)3.34668701
53pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.32368646
54protein localization to mitochondrion (GO:0070585)3.32189984
55positive regulation of antigen processing and presentation (GO:0002579)3.30312337
56regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)3.29551054
57regulation of dendritic cell antigen processing and presentation (GO:0002604)3.27724018
58glyoxylate metabolic process (GO:0046487)3.27274163
59exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.26789677
60defense response to protozoan (GO:0042832)3.26362411
61purine nucleobase biosynthetic process (GO:0009113)3.25898921
62eosinophil chemotaxis (GO:0048245)3.25448271
63cellular response to interferon-beta (GO:0035458)3.24720088
64positive regulation of cellular amide metabolic process (GO:0034250)3.23554211
65deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.22480313
66CENP-A containing nucleosome assembly (GO:0034080)3.22124438
67chromatin remodeling at centromere (GO:0031055)3.21986063
68regulation of RIG-I signaling pathway (GO:0039535)3.19562799
69response to muramyl dipeptide (GO:0032495)3.18097001
70nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.17960094
71response to interferon-beta (GO:0035456)3.16995039
72translation (GO:0006412)3.16572197
73SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.15498258
74cellular response to exogenous dsRNA (GO:0071360)3.12838474
75cotranslational protein targeting to membrane (GO:0006613)3.10929517
76anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.09691577
77protein targeting to ER (GO:0045047)3.08505346
78purine nucleotide salvage (GO:0032261)3.07842104
79viral transcription (GO:0019083)3.07240249
80ribosome assembly (GO:0042255)3.07009074
81DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.06888381
82modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.06445161
83positive regulation by organism of defense response of other organism involved in symbiotic interact3.06445161
84modulation by symbiont of host immune response (GO:0052553)3.06445161
85positive regulation by symbiont of host defense response (GO:0052509)3.06445161
86modulation by symbiont of host defense response (GO:0052031)3.06445161
87modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.06445161
88positive regulation of alpha-beta T cell proliferation (GO:0046641)3.05608620
89amyloid precursor protein catabolic process (GO:0042987)3.05440617
90cellular component biogenesis (GO:0044085)3.04678998
91rRNA processing (GO:0006364)3.04662838
92mitochondrial transport (GO:0006839)3.04337695
93pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.02536100
94aerobic respiration (GO:0009060)3.01222750
95myeloid cell activation involved in immune response (GO:0002275)3.00315100
96signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.99017256
97signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.99017256
98signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.99017256
99spliceosomal snRNP assembly (GO:0000387)2.98874857
100translational termination (GO:0006415)2.98406953
101positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)2.98387798
102oxidative phosphorylation (GO:0006119)2.98158967
103intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.97626186
104signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.97626186
105eosinophil migration (GO:0072677)2.97562281
106protein localization to endoplasmic reticulum (GO:0070972)2.96499991
107autophagic vacuole fusion (GO:0000046)2.96479783
108establishment of protein localization to endoplasmic reticulum (GO:0072599)2.95662858
109regulation of antigen processing and presentation (GO:0002577)2.95068218
110regulation of cellular amine metabolic process (GO:0033238)2.94808663
111cullin deneddylation (GO:0010388)2.93962848
112positive regulation of T-helper 1 type immune response (GO:0002827)2.93214822
113nucleobase biosynthetic process (GO:0046112)2.92736580
114rRNA metabolic process (GO:0016072)2.92654728
115microglial cell activation (GO:0001774)2.91448320
116positive regulation of interferon-alpha production (GO:0032727)2.91088063
117positive regulation of interleukin-17 production (GO:0032740)2.90873511
118positive regulation of toll-like receptor signaling pathway (GO:0034123)2.90727122
119positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.90276534
120positive regulation of interleukin-12 production (GO:0032735)2.89805232
121pteridine-containing compound biosynthetic process (GO:0042559)2.89405278
122positive regulation of T-helper cell differentiation (GO:0045624)2.89243798
123signal transduction involved in DNA damage checkpoint (GO:0072422)2.88998241
124signal transduction involved in DNA integrity checkpoint (GO:0072401)2.88998241
125positive regulation of lymphocyte migration (GO:2000403)2.88213111
126lipopolysaccharide-mediated signaling pathway (GO:0031663)2.87809067
127monocyte chemotaxis (GO:0002548)2.86727289
128fatty acid elongation (GO:0030497)2.85585421
129aromatic amino acid family catabolic process (GO:0009074)2.85428892
130type I interferon signaling pathway (GO:0060337)2.84659458
131cellular response to type I interferon (GO:0071357)2.84659458
132leukocyte degranulation (GO:0043299)2.84074797
133rRNA methylation (GO:0031167)2.84060617
134superoxide anion generation (GO:0042554)2.84041648
135protein deneddylation (GO:0000338)2.83128309
136deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.82958038
137positive regulation of ligase activity (GO:0051351)2.82604904
138ribonucleoprotein complex biogenesis (GO:0022613)2.82164711
139regulation of cholesterol esterification (GO:0010872)2.81749748
140antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.81640571
141signal transduction involved in cell cycle checkpoint (GO:0072395)2.81462333
142negative regulation of interleukin-17 production (GO:0032700)2.81212056
143S-adenosylmethionine metabolic process (GO:0046500)2.80436247
144amino acid salvage (GO:0043102)2.80063622
145L-methionine salvage (GO:0071267)2.80063622
146L-methionine biosynthetic process (GO:0071265)2.80063622
147natural killer cell activation involved in immune response (GO:0002323)2.80003500
148response to type I interferon (GO:0034340)2.78908079
149regulation of interferon-alpha production (GO:0032647)2.78091047
150NIK/NF-kappaB signaling (GO:0038061)2.77845216
151GPI anchor biosynthetic process (GO:0006506)2.77844447
152positive regulation of monocyte chemotaxis (GO:0090026)2.77725647
153positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)2.77637635
154positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.77427895
155neutrophil mediated immunity (GO:0002446)2.76700531
156regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)2.76360463
157regulation of interleukin-17 production (GO:0032660)2.73852556
158myeloid dendritic cell differentiation (GO:0043011)2.73570655
159response to protozoan (GO:0001562)2.73395729
160hydrogen peroxide biosynthetic process (GO:0050665)2.73064080
161myeloid dendritic cell activation (GO:0001773)2.71833388
162L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.71646806
163nucleoside salvage (GO:0043174)2.71612756
164translational elongation (GO:0006414)2.70507380
165detection of other organism (GO:0098543)2.70315701
166ATP biosynthetic process (GO:0006754)2.70060026
167antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.67961813
168regulation of alpha-beta T cell proliferation (GO:0046640)2.67073496
169signal peptide processing (GO:0006465)2.66810620
170T cell migration (GO:0072678)2.64345164
171regulation of T cell migration (GO:2000404)2.63336864
172regulation of T-helper 1 type immune response (GO:0002825)2.62689304
173positive regulation of cellular amine metabolic process (GO:0033240)2.62095962
174macrophage activation involved in immune response (GO:0002281)2.61755835
175positive regulation of T cell migration (GO:2000406)2.59251494
176regulation of lymphocyte migration (GO:2000401)2.58545497
177negative regulation of myeloid cell apoptotic process (GO:0033033)2.58171309
178positive regulation of gamma-delta T cell activation (GO:0046645)2.58033954
179reactive oxygen species biosynthetic process (GO:1903409)2.57584360
180detection of bacterium (GO:0016045)2.57356572
181positive regulation of defense response to virus by host (GO:0002230)2.57234786
182regulation of immunoglobulin secretion (GO:0051023)2.55180110
183positive regulation of type 2 immune response (GO:0002830)2.55048364
184aldehyde catabolic process (GO:0046185)2.54870556
185positive regulation of heterotypic cell-cell adhesion (GO:0034116)2.54808663
186leukocyte mediated cytotoxicity (GO:0001909)2.51879002
187regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)2.51129721
188amyloid precursor protein metabolic process (GO:0042982)2.50521597
189GPI anchor metabolic process (GO:0006505)2.49507678
190regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.49350098
191positive regulation of humoral immune response (GO:0002922)2.49267605
192myeloid leukocyte activation (GO:0002274)2.46298545
193positive regulation of T cell mediated cytotoxicity (GO:0001916)2.46287312
194organelle membrane fusion (GO:0090174)2.45653314
195positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.44889584
196regulation of lymphocyte chemotaxis (GO:1901623)2.44521889
197immunoglobulin mediated immune response (GO:0016064)2.43482027
198mast cell activation (GO:0045576)2.43263506
199regulation of T-helper cell differentiation (GO:0045622)2.41580031

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.32908961
2IRF8_21731497_ChIP-ChIP_J774_Mouse5.29652043
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.27340793
4BP1_19119308_ChIP-ChIP_Hs578T_Human5.02291396
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.93214346
6EST1_17652178_ChIP-ChIP_JURKAT_Human3.83366522
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.71420080
8MYC_18555785_ChIP-Seq_MESCs_Mouse3.43964933
9IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.22650998
10ETS1_20019798_ChIP-Seq_JURKAT_Human3.17189232
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.11115277
12IRF8_27001747_Chip-Seq_BMDM_Mouse3.08291763
13EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.02265751
14SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.85258139
15EGR1_23403033_ChIP-Seq_LIVER_Mouse2.81734207
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.76309513
17SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.75621169
18MYC_18358816_ChIP-ChIP_MESCs_Mouse2.64354618
19* VDR_23849224_ChIP-Seq_CD4+_Human2.62687836
20FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.60573145
21HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.54383292
22* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.52887984
23FOXP3_21729870_ChIP-Seq_TREG_Human2.46087384
24TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.45783332
25E2F7_22180533_ChIP-Seq_HELA_Human2.43846141
26DCP1A_22483619_ChIP-Seq_HELA_Human2.34224536
27SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.32282741
28MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.31876884
29MYC_19030024_ChIP-ChIP_MESCs_Mouse2.28679766
30GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.27322316
31PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.24081389
32E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.16612121
33E2F1_18555785_ChIP-Seq_MESCs_Mouse2.12926080
34NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.09196600
35ELK1_19687146_ChIP-ChIP_HELA_Human2.04644519
36MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.02578068
37LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.02500573
38STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.01527572
39HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.00502682
40CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.00370290
41STAT4_19710469_ChIP-ChIP_TH1__Mouse1.99647681
42RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.99629649
43THAP11_20581084_ChIP-Seq_MESCs_Mouse1.98250539
44* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.97991004
45E2F4_17652178_ChIP-ChIP_JURKAT_Human1.97791825
46FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.92117372
47GABP_19822575_ChIP-Seq_HepG2_Human1.91196276
48MYC_19079543_ChIP-ChIP_MESCs_Mouse1.87626468
49PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.86230783
50CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.71172587
51STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.70664427
52* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.70091881
53PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.69116557
54TTF2_22483619_ChIP-Seq_HELA_Human1.68723660
55NELFA_20434984_ChIP-Seq_ESCs_Mouse1.67595197
56XRN2_22483619_ChIP-Seq_HELA_Human1.65022989
57ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.62855504
58PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.61386196
59FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.60913954
60ELF1_17652178_ChIP-ChIP_JURKAT_Human1.55818432
61SPI1_23547873_ChIP-Seq_NB4_Human1.52385509
62TAF15_26573619_Chip-Seq_HEK293_Human1.51756283
63CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.48500292
64YY1_21170310_ChIP-Seq_MESCs_Mouse1.48176776
65SCL_19346495_ChIP-Seq_HPC-7_Human1.47844071
66ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.45816324
67MYB_21317192_ChIP-Seq_ERMYB_Mouse1.45595654
68PCGF2_27294783_Chip-Seq_ESCs_Mouse1.44762253
69FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.44176279
70FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.43267312
71FLI1_27457419_Chip-Seq_LIVER_Mouse1.42787319
72IGF1R_20145208_ChIP-Seq_DFB_Human1.41015273
73PADI4_21655091_ChIP-ChIP_MCF-7_Human1.40237148
74CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.37829283
75MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.37527041
76NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.36531501
77CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.34533541
78TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.32949861
79SRF_21415370_ChIP-Seq_HL-1_Mouse1.32807664
80RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.30114371
81LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.27036242
82MYC_18940864_ChIP-ChIP_HL60_Human1.27003842
83POU3F2_20337985_ChIP-ChIP_501MEL_Human1.26922684
84BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.26729472
85RXR_22158963_ChIP-Seq_LIVER_Mouse1.25845342
86CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.24061183
87VDR_24787735_ChIP-Seq_THP-1_Human1.21472470
88RUNX1_27457419_Chip-Seq_LIVER_Mouse1.21247736
89STAT3_18555785_Chip-Seq_ESCs_Mouse1.21133510
90CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.20948005
91SUZ12_27294783_Chip-Seq_NPCs_Mouse1.20239764
92POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.19734249
93SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.18909127
94SUZ12_18555785_Chip-Seq_ESCs_Mouse1.17451826
95GABP_17652178_ChIP-ChIP_JURKAT_Human1.17239510
96MYCN_18555785_ChIP-Seq_MESCs_Mouse1.17207143
97ERG_20887958_ChIP-Seq_HPC-7_Mouse1.16715155
98PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.15594472
99EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.15197156
100HTT_18923047_ChIP-ChIP_STHdh_Human1.15080542
101KAP1_22055183_ChIP-Seq_ESCs_Mouse1.14882222
102ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.14678883
103CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.14568645
104STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.14446200
105EZH2_27294783_Chip-Seq_NPCs_Mouse1.14410891
106FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.14300390
107NFE2_27457419_Chip-Seq_LIVER_Mouse1.14291859
108POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.14030303
109SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.12997476
110CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.12477010
111ZFX_18555785_ChIP-Seq_MESCs_Mouse1.11916821
112YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.11790880
113KDM5A_27292631_Chip-Seq_BREAST_Human1.11350531
114NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.10198156
115SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.09896565
116EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.09792279
117GATA3_26560356_Chip-Seq_TH2_Human1.09674517
118P53_22387025_ChIP-Seq_ESCs_Mouse1.09230535
119ER_23166858_ChIP-Seq_MCF-7_Human1.08997473
120TAL1_26923725_Chip-Seq_HPCs_Mouse1.08355433
121NOTCH1_21737748_ChIP-Seq_TLL_Human1.08190072
122NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.08170113
123NRF2_20460467_ChIP-Seq_MEFs_Mouse1.08170113
124NANOG_18555785_Chip-Seq_ESCs_Mouse1.08157865
125ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.08104441
126SMAD1_18555785_Chip-Seq_ESCs_Mouse1.07833423
127PU1_27457419_Chip-Seq_LIVER_Mouse1.07077698
128PPARA_22158963_ChIP-Seq_LIVER_Mouse1.06422477
129NMYC_18555785_Chip-Seq_ESCs_Mouse1.06039127
130P300_19829295_ChIP-Seq_ESCs_Human1.05557844
131TFEB_21752829_ChIP-Seq_HELA_Human1.04622946
132P300_18555785_Chip-Seq_ESCs_Mouse1.04612129
133RUNX_20019798_ChIP-Seq_JUKART_Human1.03595597
134CMYC_18555785_Chip-Seq_ESCs_Mouse1.03426927
135MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.02124126
136SOX2_18555785_Chip-Seq_ESCs_Mouse1.01771269
137PU_27001747_Chip-Seq_BMDM_Mouse1.01433049
138GBX2_23144817_ChIP-Seq_PC3_Human1.00570590
139EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.99533305
140SMAD_19615063_ChIP-ChIP_OVARY_Human0.98724676
141HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.98625185
142ELK1_22589737_ChIP-Seq_MCF10A_Human0.97729741
143PCGF2_27294783_Chip-Seq_NPCs_Mouse0.97634915
144KLF4_18555785_Chip-Seq_ESCs_Mouse0.95776763
145PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.95654618
146E2F1_21310950_ChIP-Seq_MCF-7_Human0.95136117
147OCT4_18555785_Chip-Seq_ESCs_Mouse0.95071660
148FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.94915967
149LXR_22158963_ChIP-Seq_LIVER_Mouse0.94399100
150GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.94205679
151ZFX_18555785_Chip-Seq_ESCs_Mouse0.93680618
152* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.92349908
153CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.91838675
154IRF1_19129219_ChIP-ChIP_H3396_Human0.91242907
155ESRRB_18555785_Chip-Seq_ESCs_Mouse0.90551708
156PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.89900946
157CTCF_18555785_Chip-Seq_ESCs_Mouse0.89559742
158E2F1_18555785_Chip-Seq_ESCs_Mouse0.89039082
159TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.86898551
160CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.86844584
161AR_20517297_ChIP-Seq_VCAP_Human0.86782586
162TP53_22573176_ChIP-Seq_HFKS_Human0.80164045
163NANOG_18555785_ChIP-Seq_MESCs_Mouse0.79423419
164FOXA1_27270436_Chip-Seq_PROSTATE_Human0.78967931
165FOXA1_25329375_ChIP-Seq_VCAP_Human0.78967931
166FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.77336566
167GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.77143166
168ERG_20517297_ChIP-Seq_VCAP_Human0.76534916
169STAT3_1855785_ChIP-Seq_MESCs_Mouse0.75855610
170CTCF_18555785_ChIP-Seq_MESCs_Mouse0.75076546
171TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.74565321
172ELF5_23300383_ChIP-Seq_T47D_Human0.72922771
173PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.69110560
174EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.66983090
175CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.66223008
176AR_21909140_ChIP-Seq_LNCAP_Human0.65976642

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.26868656
2MP0009785_altered_susceptibility_to3.52577525
3MP0002148_abnormal_hypersensitivity_rea3.47406029
4MP0006082_CNS_inflammation3.12745108
5MP0006036_abnormal_mitochondrial_physio3.01959806
6MP0003724_increased_susceptibility_to2.85544582
7MP0002419_abnormal_innate_immunity2.77182136
8MP0005671_abnormal_response_to2.75763263
9MP0005000_abnormal_immune_tolerance2.72183135
10MP0003436_decreased_susceptibility_to2.71815205
11MP0005025_abnormal_response_to2.68880238
12MP0000685_abnormal_immune_system2.62429548
13MP0001790_abnormal_immune_system2.43580897
14MP0005387_immune_system_phenotype2.43580897
15MP0002723_abnormal_immune_serum2.28244792
16MP0001800_abnormal_humoral_immune2.22849436
17MP0005084_abnormal_gallbladder_morpholo2.20504331
18MP0002452_abnormal_antigen_presenting2.16923291
19MP0005058_abnormal_lysosome_morphology2.15286653
20MP0003693_abnormal_embryo_hatching2.14714984
21MP0008058_abnormal_DNA_repair2.06473495
22MP0004381_abnormal_hair_follicle2.05858828
23MP0004957_abnormal_blastocyst_morpholog2.01552166
24MP0000920_abnormal_myelination1.91546127
25MP0001819_abnormal_immune_cell1.90266495
26MP0002420_abnormal_adaptive_immunity1.88691845
27MP0004019_abnormal_vitamin_homeostasis1.86641950
28MP0005464_abnormal_platelet_physiology1.82916133
29MP0003186_abnormal_redox_activity1.80768812
30MP0005451_abnormal_body_composition1.79173502
31MP0003786_premature_aging1.74554777
32MP0001853_heart_inflammation1.72374895
33MP0006035_abnormal_mitochondrial_morpho1.71837976
34MP0009764_decreased_sensitivity_to1.71702487
35MP0002254_reproductive_system_inflammat1.71475473
36MP0010094_abnormal_chromosome_stability1.71433816
37MP0003252_abnormal_bile_duct1.71010422
38MP0003690_abnormal_glial_cell1.69799588
39MP0005075_abnormal_melanosome_morpholog1.67018334
40MP0005636_abnormal_mineral_homeostasis1.62257329
41MP0001666_abnormal_nutrient_absorption1.62078131
42MP0003806_abnormal_nucleotide_metabolis1.60439422
43MP0003136_yellow_coat_color1.60262094
44MP0003195_calcinosis1.59714495
45MP0003111_abnormal_nucleus_morphology1.58647534
46MP0010329_abnormal_lipoprotein_level1.58506901
47MP0008469_abnormal_protein_level1.57767002
48MP0003718_maternal_effect1.53578222
49MP0001845_abnormal_inflammatory_respons1.51670730
50MP0008875_abnormal_xenobiotic_pharmacok1.51104914
51MP0002139_abnormal_hepatobiliary_system1.49441841
52MP0002138_abnormal_hepatobiliary_system1.49045607
53MP0002277_abnormal_respiratory_mucosa1.48637743
54MP0002405_respiratory_system_inflammati1.47788241
55MP0009840_abnormal_foam_cell1.47215312
56MP0005310_abnormal_salivary_gland1.43511674
57MP0004782_abnormal_surfactant_physiolog1.39081959
58MP0005379_endocrine/exocrine_gland_phen1.38590396
59MP0000716_abnormal_immune_system1.32789077
60MP0001764_abnormal_homeostasis1.32240320
61MP0003172_abnormal_lysosome_physiology1.31838846
62MP0001533_abnormal_skeleton_physiology1.30940763
63MP0002837_dystrophic_cardiac_calcinosis1.30857036
64MP0008007_abnormal_cellular_replicative1.29980778
65MP0005408_hypopigmentation1.29284951
66MP0003950_abnormal_plasma_membrane1.28281690
67MP0002006_tumorigenesis1.28247655
68MP0002163_abnormal_gland_morphology1.27003559
69MP0004510_myositis1.26106399
70MP0003183_abnormal_peptide_metabolism1.25669556
71MP0008260_abnormal_autophagy1.24024882
72MP0005174_abnormal_tail_pigmentation1.23483510
73MP0005319_abnormal_enzyme/_coenzyme1.20737198
74MP0002160_abnormal_reproductive_system1.19531129
75MP0009697_abnormal_copulation1.19298116
76MP0000604_amyloidosis1.18832831
77MP0001986_abnormal_taste_sensitivity1.18686216
78MP0005670_abnormal_white_adipose1.18413682
79MP0003077_abnormal_cell_cycle1.17182506
80MP0005646_abnormal_pituitary_gland1.14530422
81MP0008877_abnormal_DNA_methylation1.13221010
82MP0003011_delayed_dark_adaptation1.11519810
83MP0001851_eye_inflammation1.11296673
84MP0009333_abnormal_splenocyte_physiolog1.11116019
85MP0009379_abnormal_foot_pigmentation1.10785008
86MP0001905_abnormal_dopamine_level1.10521995
87MP0002166_altered_tumor_susceptibility1.10107933
88MP0000609_abnormal_liver_physiology1.09281699
89MP0003191_abnormal_cellular_cholesterol1.09219648
90MP0010155_abnormal_intestine_physiology1.08277361
91MP0002398_abnormal_bone_marrow1.07282688
92MP0009763_increased_sensitivity_to1.06867022
93MP0004947_skin_inflammation1.06815944
94MP0002876_abnormal_thyroid_physiology1.06242516
95MP0008872_abnormal_physiological_respon1.04770328
96MP0005389_reproductive_system_phenotype1.04448349
97MP0005085_abnormal_gallbladder_physiolo1.04064999
98MP0005410_abnormal_fertilization1.03982566
99MP0003656_abnormal_erythrocyte_physiolo1.02702700
100MP0004147_increased_porphyrin_level1.01112419
101MP0003075_altered_response_to0.99760154
102MP0000015_abnormal_ear_pigmentation0.99108965
103MP0002429_abnormal_blood_cell0.98943360
104MP0000689_abnormal_spleen_morphology0.98921581
105MP0009643_abnormal_urine_homeostasis0.97613535
106MP0008873_increased_physiological_sensi0.95486975
107MP0002938_white_spotting0.95011918
108MP0001881_abnormal_mammary_gland0.94145456
109MP0002102_abnormal_ear_morphology0.93648940
110MP0000372_irregular_coat_pigmentation0.92705989
111MP0005360_urolithiasis0.92658190
112MP0005645_abnormal_hypothalamus_physiol0.92363880
113MP0002118_abnormal_lipid_homeostasis0.90412202
114MP0003941_abnormal_skin_development0.89774975
115MP0003123_paternal_imprinting0.89088539
116MP0002132_abnormal_respiratory_system0.88853786
117MP0002090_abnormal_vision0.87823301
118MP0006072_abnormal_retinal_apoptosis0.87683294
119MP0005365_abnormal_bile_salt0.86881866
120MP0009765_abnormal_xenobiotic_induced0.86709311
121MP0002396_abnormal_hematopoietic_system0.85798347
122MP0005584_abnormal_enzyme/coenzyme_acti0.84657758
123MP0002693_abnormal_pancreas_physiology0.83178952
124MP0005171_absent_coat_pigmentation0.82056362
125MP0002722_abnormal_immune_system0.82025009
126MP0005266_abnormal_metabolism0.82019124
127MP0005164_abnormal_response_to0.81896711
128MP0009642_abnormal_blood_homeostasis0.81433529
129MP0001346_abnormal_lacrimal_gland0.81224993
130MP0003868_abnormal_feces_composition0.80961629
131MP0005376_homeostasis/metabolism_phenot0.80533256
132MP0008932_abnormal_embryonic_tissue0.79989290
133MP0000343_altered_response_to0.79414572
134MP0001529_abnormal_vocalization0.78992278
135MP0010386_abnormal_urinary_bladder0.78755926
136MP0008004_abnormal_stomach_pH0.77664397
137MP0004142_abnormal_muscle_tone0.77108465
138MP0002638_abnormal_pupillary_reflex0.76788685
139MP0000465_gastrointestinal_hemorrhage0.75079797
140MP0006292_abnormal_olfactory_placode0.74174821
141MP0001919_abnormal_reproductive_system0.73495764
142MP0003763_abnormal_thymus_physiology0.72392672
143MP0005332_abnormal_amino_acid0.72121983
144MP0005551_abnormal_eye_electrophysiolog0.71336563
145MP0000598_abnormal_liver_morphology0.71145706
146MP0002998_abnormal_bone_remodeling0.70832058
147MP0001661_extended_life_span0.70410936
148MP0005395_other_phenotype0.69547370
149MP0003638_abnormal_response/metabolism_0.69171485
150MP0008057_abnormal_DNA_replication0.68803507
151MP0005409_darkened_coat_color0.68157176
152MP0002736_abnormal_nociception_after0.67812856
153MP0005083_abnormal_biliary_tract0.67311387
154MP0003448_altered_tumor_morphology0.66966917
155MP0004742_abnormal_vestibular_system0.66912817

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)4.92734887
2Recurrent bacterial skin infections (HP:0005406)4.81370097
3Eczematoid dermatitis (HP:0000976)3.86175259
4Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.79091029
5Decreased activity of mitochondrial respiratory chain (HP:0008972)3.79091029
6Elevated erythrocyte sedimentation rate (HP:0003565)3.73547011
7Abnormality of macrophages (HP:0004311)3.68948568
8Recurrent gram-negative bacterial infections (HP:0005420)3.62023419
9Hypobetalipoproteinemia (HP:0003563)3.59798815
10Vacuolated lymphocytes (HP:0001922)3.57916080
11Stomatitis (HP:0010280)3.54608959
12Recurrent skin infections (HP:0001581)3.36100153
13Mediastinal lymphadenopathy (HP:0100721)3.20946654
14Hyperglycinemia (HP:0002154)3.13530663
15Abnormality of methionine metabolism (HP:0010901)3.13068058
16Increased serum lactate (HP:0002151)3.12077461
17Lactic acidosis (HP:0003128)3.10846940
18Renal Fanconi syndrome (HP:0001994)3.09778803
19Parakeratosis (HP:0001036)3.07807217
20Glycosuria (HP:0003076)3.02875294
21Abnormality of urine glucose concentration (HP:0011016)3.02875294
22Optic neuritis (HP:0100653)3.01999395
23Retrobulbar optic neuritis (HP:0100654)3.01999395
24Abnormality of serum amino acid levels (HP:0003112)2.96562712
25Increased intramyocellular lipid droplets (HP:0012240)2.95579415
26Abnormality of aromatic amino acid family metabolism (HP:0004338)2.93232027
27Increased serum pyruvate (HP:0003542)2.90148093
28Lethargy (HP:0001254)2.89681453
29Abnormality of aspartate family amino acid metabolism (HP:0010899)2.85395474
30Prolonged partial thromboplastin time (HP:0003645)2.82372987
31Respiratory failure (HP:0002878)2.79867732
32Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.79847306
33Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.79360212
34Abnormality of alanine metabolism (HP:0010916)2.79360212
35Hyperalaninemia (HP:0003348)2.79360212
36Axonal loss (HP:0003447)2.76654060
37Myositis (HP:0100614)2.74706070
38Macrocytic anemia (HP:0001972)2.73047444
39Methylmalonic aciduria (HP:0012120)2.68378250
40Vasculitis (HP:0002633)2.67796797
41Increased neuronal autofluorescent lipopigment (HP:0002074)2.61677362
42Systemic lupus erythematosus (HP:0002725)2.61147128
43Hepatosplenomegaly (HP:0001433)2.60336590
44Nausea (HP:0002018)2.58194890
45Joint hemorrhage (HP:0005261)2.58113018
46Hypothermia (HP:0002045)2.57494736
47Increased muscle lipid content (HP:0009058)2.56085142
48Aplastic anemia (HP:0001915)2.55549053
49Orchitis (HP:0100796)2.55348126
50Exercise intolerance (HP:0003546)2.54513393
51Amyloidosis (HP:0011034)2.51624267
52Abnormality of glycolysis (HP:0004366)2.46604747
53Gingivitis (HP:0000230)2.43669156
54Obstructive lung disease (HP:0006536)2.43653534
55Chronic obstructive pulmonary disease (HP:0006510)2.43653534
56Abnormality of monocarboxylic acid metabolism (HP:0010996)2.42410377
57Hypoglycemic coma (HP:0001325)2.41690773
583-Methylglutaconic aciduria (HP:0003535)2.40922898
59Increased IgM level (HP:0003496)2.39819759
60Prolonged neonatal jaundice (HP:0006579)2.39522006
61Exertional dyspnea (HP:0002875)2.39405800
62Prostate neoplasm (HP:0100787)2.37821159
63Increased hepatocellular lipid droplets (HP:0006565)2.37615050
64Recurrent fungal infections (HP:0002841)2.37393755
65Respiratory difficulties (HP:0002880)2.37073182
66Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.37004672
67Hyperphosphaturia (HP:0003109)2.35729008
68Acute necrotizing encephalopathy (HP:0006965)2.30902121
69Dicarboxylic aciduria (HP:0003215)2.29725072
70Abnormality of dicarboxylic acid metabolism (HP:0010995)2.29725072
71Patchy hypopigmentation of hair (HP:0011365)2.26046894
72Abnormal number of erythroid precursors (HP:0012131)2.25273393
73Spontaneous abortion (HP:0005268)2.24318110
74Microvesicular hepatic steatosis (HP:0001414)2.22394790
75Gout (HP:0001997)2.22277491
76Mitochondrial inheritance (HP:0001427)2.20440695
77Basal ganglia calcification (HP:0002135)2.20263552
78Abnormal protein glycosylation (HP:0012346)2.19177052
79Abnormal glycosylation (HP:0012345)2.19177052
80Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.19177052
81Abnormal protein N-linked glycosylation (HP:0012347)2.19177052
82Lipid accumulation in hepatocytes (HP:0006561)2.18819088
83CNS demyelination (HP:0007305)2.18550730
84Periodontitis (HP:0000704)2.17608609
85White forelock (HP:0002211)2.17172787
86Abnormality of sulfur amino acid metabolism (HP:0004339)2.17029033
87Optic disc pallor (HP:0000543)2.16114844
88Recurrent pneumonia (HP:0006532)2.15497796
89Abnormality of renal resorption (HP:0011038)2.14067854
90Recurrent cutaneous fungal infections (HP:0011370)2.13168083
91Chronic mucocutaneous candidiasis (HP:0002728)2.13168083
92Autoimmune thrombocytopenia (HP:0001973)2.10565970
93Abnormality of cells of the erythroid lineage (HP:0012130)2.09389729
94Gingival bleeding (HP:0000225)2.08506962
95Abnormality of vitamin B metabolism (HP:0004340)2.08439748
96Microretrognathia (HP:0000308)2.07107066
97Type I transferrin isoform profile (HP:0003642)2.06789457
98Pancytopenia (HP:0001876)2.05952024
99Testicular atrophy (HP:0000029)2.05309555
100Metabolic acidosis (HP:0001942)2.04228017
101Meningitis (HP:0001287)2.03979233
102Abnormality of the anterior horn cell (HP:0006802)2.03837420
103Degeneration of anterior horn cells (HP:0002398)2.03837420
104Megaloblastic anemia (HP:0001889)2.02682855
105Acute encephalopathy (HP:0006846)2.02369523
106Neurofibrillary tangles (HP:0002185)2.01727451
107Hyperammonemia (HP:0001987)2.00599842
108Purpura (HP:0000979)2.00244016
109Increased cerebral lipofuscin (HP:0011813)1.98938404
110Urticaria (HP:0001025)1.98750549
111Abnormality of glycine metabolism (HP:0010895)1.98617777
112Abnormality of serine family amino acid metabolism (HP:0010894)1.98617777
113Cleft eyelid (HP:0000625)1.97972704
114Recurrent viral infections (HP:0004429)1.96709650
115Hypolipoproteinemia (HP:0010981)1.96344108
116Leukocytosis (HP:0001974)1.96183249
117Symptomatic seizures (HP:0011145)1.95292626
118Abnormality of pyrimidine metabolism (HP:0004353)1.95209553
119Hypoglycemic seizures (HP:0002173)1.94798397
120Hepatocellular necrosis (HP:0001404)1.94700878
121Abnormality of the prostate (HP:0008775)1.94148928
122Abnormal mitochondria in muscle tissue (HP:0008316)1.93148966
123Pulmonary infiltrates (HP:0002113)1.91561887
124Joint swelling (HP:0001386)1.90388539
125Gastrointestinal infarctions (HP:0005244)1.89802194
126Thick nail (HP:0001805)1.89456819
127Oral leukoplakia (HP:0002745)1.89277253
128Methylmalonic acidemia (HP:0002912)1.88537127
129Hyperlipoproteinemia (HP:0010980)1.87809901
130Epistaxis (HP:0000421)1.87416478
131Hepatic necrosis (HP:0002605)1.87323713
132Abnormality of vitamin metabolism (HP:0100508)1.87125823
133Vomiting (HP:0002013)1.86490676
134X-linked dominant inheritance (HP:0001423)1.86306556
135Keratoconjunctivitis (HP:0001096)1.86287841
136Multiple enchondromatosis (HP:0005701)1.85982501
137Neutropenia (HP:0001875)1.85385448
138Abnormality of the vitamin B12 metabolism (HP:0004341)1.85085540
139Hypomagnesemia (HP:0002917)1.84248655
140Keratoconjunctivitis sicca (HP:0001097)1.83809857
141Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.83268598
142Progressive macrocephaly (HP:0004481)1.83169582
143Eosinophilia (HP:0001880)1.82836124
144Reduced antithrombin III activity (HP:0001976)1.82043275
145Gangrene (HP:0100758)1.81002174
146Cerebral hemorrhage (HP:0001342)1.80853068
147Ketosis (HP:0001946)1.79069800
148Intrahepatic cholestasis (HP:0001406)1.79055380
149Chronic otitis media (HP:0000389)1.78655367
150Decreased electroretinogram (ERG) amplitude (HP:0000654)1.78249483
151Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.77786217
152Palpitations (HP:0001962)1.77021790
153Dry hair (HP:0011359)1.76919139
154Pancreatic islet-cell hyperplasia (HP:0004510)1.76813429
155Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.76642283
156Glomerulonephritis (HP:0000099)1.76403097
157Steatorrhea (HP:0002570)1.75713887
158Hemoptysis (HP:0002105)1.75301576
159Hypergammaglobulinemia (HP:0010702)1.75132117
160Cerebral edema (HP:0002181)1.74049689
161Abnormality of eosinophils (HP:0001879)1.73644930
162Granulocytopenia (HP:0001913)1.73296226
163Pustule (HP:0200039)1.72949013
164Pallor (HP:0000980)1.72742077
165Erythroderma (HP:0001019)1.72270670
166Leukodystrophy (HP:0002415)1.71945832
167Increased CSF lactate (HP:0002490)1.71582810
168Abnormal hair whorl (HP:0010721)1.71288591
169Generalized aminoaciduria (HP:0002909)1.71254644
170Autoimmune hemolytic anemia (HP:0001890)1.71082382
171Petechiae (HP:0000967)1.70925599
172Poor head control (HP:0002421)1.70478735
173Abnormality of glycolipid metabolism (HP:0010969)1.68645261
174Abnormality of glycosphingolipid metabolism (HP:0004343)1.68645261

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.26929225
2MAP3K143.83230507
3BLK3.12339198
4PBK3.06169295
5IRAK43.00836999
6RIPK42.89151017
7IRAK32.83713678
8VRK22.81804689
9EIF2AK12.73828669
10PDK22.61809891
11ZAK2.31182347
12IKBKE2.19037418
13TXK2.19020293
14TBK12.18660058
15NEK12.11661703
16IKBKB2.08955913
17BMPR22.08015336
18TNIK2.03992853
19TYK22.03688250
20CDC71.96489779
21BMPR1B1.96356282
22KIT1.92259127
23NME21.84389867
24STK161.79606332
25PIK3CG1.69560012
26MST41.69378948
27NME11.69299540
28MUSK1.57578153
29JAK31.55350235
30MAP3K131.51375576
31MAP4K21.50467168
32MAPKAPK51.50274997
33SCYL21.45695165
34PKN11.45659482
35GRK71.44963716
36TAOK31.44956341
37ADRBK21.42648226
38PLK31.41170580
39MAP4K11.40758758
40MAPK151.37099784
41BTK1.31538255
42TRIM281.29503740
43TEC1.29497054
44TTK1.29444070
45FRK1.27796250
46SYK1.25688588
47WNK31.23406543
48SRPK11.22791413
49EIF2AK21.20316351
50PIM21.16277296
51CSF1R1.15836566
52STK391.14725340
53MAP3K121.14276238
54EPHB11.14170255
55LYN1.08301046
56OXSR11.08066145
57VRK11.07416400
58TESK11.07097596
59CLK11.06896732
60CHUK1.05942136
61FGR1.04938898
62YES11.04143704
63PLK11.01222484
64JAK10.98908661
65BCR0.98393619
66CASK0.98240649
67IRAK10.97794606
68LCK0.96719884
69TRPM70.93064136
70DAPK10.91898205
71ZAP700.89992415
72KDR0.88751579
73NLK0.88658622
74BRSK20.80587755
75NEK60.78418694
76RPS6KA50.77839757
77CDK190.77196567
78WEE10.76746340
79ARAF0.76087914
80ABL20.75257037
81ITK0.74165313
82CSNK2A20.74123526
83ILK0.74062980
84CSNK2A10.73669343
85TGFBR20.71959145
86INSRR0.71721759
87TSSK60.71602050
88CSK0.70324507
89PASK0.68922226
90FES0.67772446
91IRAK20.67035221
92AURKB0.64627391
93PRKCQ0.64457507
94TESK20.64415524
95STK100.61990766
96TNK20.61956046
97DYRK30.61922977
98PRPF4B0.61178729
99DYRK20.61078491
100PRKCD0.60977974
101MAP3K110.60142615
102MAP2K60.59930363
103MAP3K60.59910618
104HCK0.59065214
105MYLK0.56132511
106MAP3K30.55716187
107PIM10.55661600
108NEK90.55160060
109GRK60.54997933
110PRKCI0.54951117
111MATK0.54670183
112SIK30.53256412
113PLK40.53234730
114LRRK20.51423477
115MKNK20.50838936
116BCKDK0.50096354
117NUAK10.49740775
118PRKG20.48704065
119EIF2AK30.47813600
120MOS0.47071780
121PRKCE0.47015910
122ATR0.46471060
123JAK20.46440246
124ERBB40.45960830
125TAOK20.44558500
126TAF10.44539086
127RPS6KA40.44162899
128TLK10.44004996
129CSNK1G30.43556523
130TAOK10.43331146
131EPHA30.42568286
132CSNK1G10.42098324
133ALK0.41195456
134FGFR40.40722592
135ABL10.39741427
136GRK50.39386259
137MKNK10.39095284
138AURKA0.38808518
139ACVR1B0.37535765
140MAP2K30.37006655
141MAP3K50.36477809
142CHEK20.36070545
143GRK10.34998407
144STK40.34598613
145CDK30.33850140
146PAK10.33145084
147CSNK1A1L0.31973445
148FLT30.31496812
149CAMK2G0.31103575
150ADRBK10.30435506
151MAPK40.30121109
152PIK3CA0.29903060

Predicted pathways (KEGG)

RankGene SetZ-score
1Graft-versus-host disease_Homo sapiens_hsa053322.90854268
2Allograft rejection_Homo sapiens_hsa053302.85388795
3Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.65697843
4Staphylococcus aureus infection_Homo sapiens_hsa051502.50837348
5Protein export_Homo sapiens_hsa030602.24114690
6Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.16862530
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.06113006
8Rheumatoid arthritis_Homo sapiens_hsa053232.05250678
9Intestinal immune network for IgA production_Homo sapiens_hsa046722.03163063
10Fatty acid elongation_Homo sapiens_hsa000621.97969988
11NF-kappa B signaling pathway_Homo sapiens_hsa040641.94725466
12NOD-like receptor signaling pathway_Homo sapiens_hsa046211.94491328
13Mismatch repair_Homo sapiens_hsa034301.94319391
14* One carbon pool by folate_Homo sapiens_hsa006701.93666441
15Oxidative phosphorylation_Homo sapiens_hsa001901.93651266
16Autoimmune thyroid disease_Homo sapiens_hsa053201.92223571
17Histidine metabolism_Homo sapiens_hsa003401.91391961
18DNA replication_Homo sapiens_hsa030301.89420714
19Steroid biosynthesis_Homo sapiens_hsa001001.83587467
20Sulfur metabolism_Homo sapiens_hsa009201.83169887
21Leishmaniasis_Homo sapiens_hsa051401.76997721
22Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.75405157
23Homologous recombination_Homo sapiens_hsa034401.71530719
24Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.70485162
25Caffeine metabolism_Homo sapiens_hsa002321.67356499
26Toll-like receptor signaling pathway_Homo sapiens_hsa046201.65281927
27RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.64858682
28Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.63230533
29Asthma_Homo sapiens_hsa053101.60164014
30SNARE interactions in vesicular transport_Homo sapiens_hsa041301.57483741
31Type I diabetes mellitus_Homo sapiens_hsa049401.56909363
32Pyrimidine metabolism_Homo sapiens_hsa002401.53649991
33Pertussis_Homo sapiens_hsa051331.51532786
34Malaria_Homo sapiens_hsa051441.46792326
35Chemical carcinogenesis_Homo sapiens_hsa052041.44668314
36Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.41235254
37Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.41102086
38Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.39484817
39Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.39001286
40Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.37531659
41Propanoate metabolism_Homo sapiens_hsa006401.36418196
42Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.33695582
43Pyruvate metabolism_Homo sapiens_hsa006201.33015604
44Cysteine and methionine metabolism_Homo sapiens_hsa002701.32497636
45Ether lipid metabolism_Homo sapiens_hsa005651.32235502
46Folate biosynthesis_Homo sapiens_hsa007901.30632634
47Primary bile acid biosynthesis_Homo sapiens_hsa001201.30251173
48Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.29309510
49Butanoate metabolism_Homo sapiens_hsa006501.28000639
50Fatty acid degradation_Homo sapiens_hsa000711.26446172
51African trypanosomiasis_Homo sapiens_hsa051431.25984786
52Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.25535683
53Complement and coagulation cascades_Homo sapiens_hsa046101.25351916
54Legionellosis_Homo sapiens_hsa051341.24183733
55Pentose and glucuronate interconversions_Homo sapiens_hsa000401.23925774
56Measles_Homo sapiens_hsa051621.23761399
57Peroxisome_Homo sapiens_hsa041461.23703575
58Parkinsons disease_Homo sapiens_hsa050121.21120426
59Base excision repair_Homo sapiens_hsa034101.20407325
60Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.20341348
61Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.17840802
62Hematopoietic cell lineage_Homo sapiens_hsa046401.15241370
63Phagosome_Homo sapiens_hsa041451.14914462
64Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.14819899
65Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.14703802
66Ribosome_Homo sapiens_hsa030101.13718336
67Proteasome_Homo sapiens_hsa030501.12320590
68Spliceosome_Homo sapiens_hsa030401.08110711
69Arachidonic acid metabolism_Homo sapiens_hsa005901.08001614
70Primary immunodeficiency_Homo sapiens_hsa053401.07540989
71Steroid hormone biosynthesis_Homo sapiens_hsa001401.07416331
72RNA degradation_Homo sapiens_hsa030181.06456511
73Tuberculosis_Homo sapiens_hsa051521.04846491
74Lysosome_Homo sapiens_hsa041421.04091654
75Nucleotide excision repair_Homo sapiens_hsa034201.03063138
76Retinol metabolism_Homo sapiens_hsa008301.01306577
77Alzheimers disease_Homo sapiens_hsa050101.00876806
78Osteoclast differentiation_Homo sapiens_hsa043800.98764854
79Other glycan degradation_Homo sapiens_hsa005110.98154313
80Purine metabolism_Homo sapiens_hsa002300.98015047
81Sphingolipid metabolism_Homo sapiens_hsa006000.95828272
82RNA transport_Homo sapiens_hsa030130.94973929
83Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.93286962
84Linoleic acid metabolism_Homo sapiens_hsa005910.88725366
852-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.88161088
86Carbon metabolism_Homo sapiens_hsa012000.87777434
87Arginine biosynthesis_Homo sapiens_hsa002200.83622211
88Influenza A_Homo sapiens_hsa051640.83355867
89Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.83259347
90Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.81894713
91Collecting duct acid secretion_Homo sapiens_hsa049660.81574305
92Selenocompound metabolism_Homo sapiens_hsa004500.81438955
93Basal transcription factors_Homo sapiens_hsa030220.79975092
94ABC transporters_Homo sapiens_hsa020100.79600390
95Fanconi anemia pathway_Homo sapiens_hsa034600.79258976
96TNF signaling pathway_Homo sapiens_hsa046680.78143392
97alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.78096227
98Herpes simplex infection_Homo sapiens_hsa051680.78052680
99Vitamin digestion and absorption_Homo sapiens_hsa049770.77218356
100Jak-STAT signaling pathway_Homo sapiens_hsa046300.76068825
101Fat digestion and absorption_Homo sapiens_hsa049750.75454807
102Fatty acid metabolism_Homo sapiens_hsa012120.74640638
103Non-homologous end-joining_Homo sapiens_hsa034500.74300084
104Glutathione metabolism_Homo sapiens_hsa004800.73865056
105Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.72476718
106Cardiac muscle contraction_Homo sapiens_hsa042600.72137207
107Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.70904696
108Tyrosine metabolism_Homo sapiens_hsa003500.69812260
109Phenylalanine metabolism_Homo sapiens_hsa003600.69577783
110Maturity onset diabetes of the young_Homo sapiens_hsa049500.68436980
111Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.68299886
112Huntingtons disease_Homo sapiens_hsa050160.66878087
113Chemokine signaling pathway_Homo sapiens_hsa040620.66256103
114Salmonella infection_Homo sapiens_hsa051320.62900432
115Drug metabolism - other enzymes_Homo sapiens_hsa009830.61322098
116beta-Alanine metabolism_Homo sapiens_hsa004100.61028450
117Tryptophan metabolism_Homo sapiens_hsa003800.59391913
118Regulation of autophagy_Homo sapiens_hsa041400.57931312
119Arginine and proline metabolism_Homo sapiens_hsa003300.57768694
120Starch and sucrose metabolism_Homo sapiens_hsa005000.57527773
121Biosynthesis of amino acids_Homo sapiens_hsa012300.55091380
122Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.54878543
123Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.54858324
124B cell receptor signaling pathway_Homo sapiens_hsa046620.52833234
125Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.51879810
126Nitrogen metabolism_Homo sapiens_hsa009100.50590628
127Hepatitis C_Homo sapiens_hsa051600.49467548
128Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.47945745
129Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.47692810
130RNA polymerase_Homo sapiens_hsa030200.47358100
131* Metabolic pathways_Homo sapiens_hsa011000.46381886
132Sulfur relay system_Homo sapiens_hsa041220.45851588
133Glycosaminoglycan degradation_Homo sapiens_hsa005310.45052663
134Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.42936334
135Toxoplasmosis_Homo sapiens_hsa051450.39556017
136Vitamin B6 metabolism_Homo sapiens_hsa007500.38975289
137Apoptosis_Homo sapiens_hsa042100.38915159
138Galactose metabolism_Homo sapiens_hsa000520.37738770
139PPAR signaling pathway_Homo sapiens_hsa033200.37589174
140N-Glycan biosynthesis_Homo sapiens_hsa005100.32243350
141Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.31431139
142Pentose phosphate pathway_Homo sapiens_hsa000300.27075135
143Mineral absorption_Homo sapiens_hsa049780.24620053

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