PGAP2

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 plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Defects in this gene have been associated with hyperphosphatasia with mental retardation syndrome 3. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.08364725
2antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.08364725
3antigen processing and presentation of endogenous antigen (GO:0019883)4.75388196
4neutrophil activation involved in immune response (GO:0002283)4.71831670
5CENP-A containing nucleosome assembly (GO:0034080)4.46961161
6antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.43905497
7chromatin remodeling at centromere (GO:0031055)4.42348202
8rRNA modification (GO:0000154)4.34174772
9cellular response to zinc ion (GO:0071294)4.26554172
10DNA strand elongation involved in DNA replication (GO:0006271)4.25131951
11DNA replication checkpoint (GO:0000076)4.15193885
12regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.10608371
13telomere maintenance via semi-conservative replication (GO:0032201)4.06348024
14DNA strand elongation (GO:0022616)4.03151383
15ribosomal small subunit assembly (GO:0000028)4.01718438
16establishment of integrated proviral latency (GO:0075713)3.92760853
17histone exchange (GO:0043486)3.87186970
18purine nucleobase biosynthetic process (GO:0009113)3.86774360
19positive regulation of natural killer cell differentiation (GO:0032825)3.82296336
20hyperosmotic salinity response (GO:0042538)3.78187561
21respiratory burst (GO:0045730)3.77436035
22natural killer cell mediated immunity (GO:0002228)3.75666543
23natural killer cell mediated cytotoxicity (GO:0042267)3.75666543
24type I interferon signaling pathway (GO:0060337)3.75082967
25cellular response to type I interferon (GO:0071357)3.75082967
26response to type I interferon (GO:0034340)3.73812274
27IMP biosynthetic process (GO:0006188)3.72604335
28regulation of RIG-I signaling pathway (GO:0039535)3.72405236
29immunoglobulin mediated immune response (GO:0016064)3.70976605
30mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.69508921
31rRNA methylation (GO:0031167)3.69226049
32response to peptidoglycan (GO:0032494)3.69164610
33mitotic metaphase plate congression (GO:0007080)3.66295796
34L-serine metabolic process (GO:0006563)3.65729614
35antigen processing and presentation via MHC class Ib (GO:0002475)3.65193492
36positive regulation of interferon-alpha production (GO:0032727)3.63983068
37pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.62939044
38negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.61271208
39reactive oxygen species biosynthetic process (GO:1903409)3.58756110
40nucleobase biosynthetic process (GO:0046112)3.57973231
41protein localization to kinetochore (GO:0034501)3.56197770
42T-helper 1 type immune response (GO:0042088)3.54997067
43hydrogen peroxide biosynthetic process (GO:0050665)3.53477476
44regulation of activation of Janus kinase activity (GO:0010533)3.52953518
45DNA replication-independent nucleosome organization (GO:0034724)3.52654609
46DNA replication-independent nucleosome assembly (GO:0006336)3.52654609
47NIK/NF-kappaB signaling (GO:0038061)3.49198402
48DNA ligation (GO:0006266)3.47656959
49positive regulation of antigen processing and presentation (GO:0002579)3.46201888
50DNA strand renaturation (GO:0000733)3.44882157
51neutrophil activation (GO:0042119)3.44343191
52regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.42156438
53regulation of mitochondrial translation (GO:0070129)3.39978690
54regulation of interferon-alpha production (GO:0032647)3.39157412
55base-excision repair, AP site formation (GO:0006285)3.38793041
56granulocyte activation (GO:0036230)3.38096428
57chaperone-mediated protein transport (GO:0072321)3.37178005
58positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.36949678
59viral transcription (GO:0019083)3.36528041
60translational termination (GO:0006415)3.35626594
61anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.33571130
62peptidyl-histidine modification (GO:0018202)3.32111123
63production of molecular mediator involved in inflammatory response (GO:0002532)3.30572149
64amyloid precursor protein catabolic process (GO:0042987)3.29691489
65base-excision repair (GO:0006284)3.28397236
66mitotic sister chromatid segregation (GO:0000070)3.27721610
67proteasome assembly (GO:0043248)3.27388245
68negative regulation of ligase activity (GO:0051352)3.27380527
69negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.27380527
70ribosomal small subunit biogenesis (GO:0042274)3.26345711
71leukocyte mediated cytotoxicity (GO:0001909)3.25472529
72ribosome assembly (GO:0042255)3.24605215
73establishment of protein localization to mitochondrial membrane (GO:0090151)3.23902071
74ribosomal large subunit biogenesis (GO:0042273)3.22403081
75mitotic recombination (GO:0006312)3.21442709
76ATP synthesis coupled proton transport (GO:0015986)3.20626401
77energy coupled proton transport, down electrochemical gradient (GO:0015985)3.20626401
78telomere maintenance via recombination (GO:0000722)3.18868110
79regulation of helicase activity (GO:0051095)3.15727890
80positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.15021107
81negative regulation of chromosome segregation (GO:0051985)3.14766640
82establishment of viral latency (GO:0019043)3.12810629
83telomere maintenance via telomere lengthening (GO:0010833)3.11839889
84negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.11452884
85negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.11452884
86negative regulation of mitotic sister chromatid segregation (GO:0033048)3.11452884
87negative regulation of mitotic sister chromatid separation (GO:2000816)3.11452884
88negative regulation of sister chromatid segregation (GO:0033046)3.11452884
89formation of translation preinitiation complex (GO:0001731)3.09133588
90regulation of interferon-beta biosynthetic process (GO:0045357)3.05614599
91superoxide anion generation (GO:0042554)3.04396098
92IMP metabolic process (GO:0046040)3.04200986
93pseudouridine synthesis (GO:0001522)3.03662276
94metaphase plate congression (GO:0051310)3.03309007
95regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)3.00811454
96defense response to protozoan (GO:0042832)2.99534420
97kinetochore assembly (GO:0051382)2.99163890
98regulation of antigen processing and presentation (GO:0002577)2.98983322
99translational elongation (GO:0006414)2.97955300
100response to interferon-alpha (GO:0035455)2.97904283
101spindle checkpoint (GO:0031577)2.97491378
102translational initiation (GO:0006413)2.97405877
103mitotic spindle checkpoint (GO:0071174)2.97009983
104cellular response to interferon-beta (GO:0035458)2.96450452
105spliceosomal snRNP assembly (GO:0000387)2.95504990
106positive regulation of B cell differentiation (GO:0045579)2.95323903
107positive regulation of monocyte chemotaxis (GO:0090026)2.94696571
108lipopolysaccharide-mediated signaling pathway (GO:0031663)2.94605527
109transcription elongation from RNA polymerase III promoter (GO:0006385)2.94422676
110termination of RNA polymerase III transcription (GO:0006386)2.94422676
111DNA replication initiation (GO:0006270)2.94307991
112kinetochore organization (GO:0051383)2.93747763
113mitotic nuclear envelope disassembly (GO:0007077)2.93647393
114SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.93611775
115response to interferon-beta (GO:0035456)2.93185954
116regulation of natural killer cell differentiation (GO:0032823)2.91503325
117protein localization to chromosome, centromeric region (GO:0071459)2.91134269
118interferon-gamma-mediated signaling pathway (GO:0060333)2.90956938
119serine family amino acid biosynthetic process (GO:0009070)2.90156761
120negative regulation of growth of symbiont in host (GO:0044130)2.88878060
121negative regulation of growth of symbiont involved in interaction with host (GO:0044146)2.88878060
122modulation of growth of symbiont involved in interaction with host (GO:0044144)2.88878060
123regulation of growth of symbiont in host (GO:0044126)2.88878060
124negative regulation of viral genome replication (GO:0045071)2.88294224
125mitotic spindle assembly checkpoint (GO:0007094)2.88207344
126cellular response to exogenous dsRNA (GO:0071360)2.87894724
127DNA unwinding involved in DNA replication (GO:0006268)2.87877056
128cotranslational protein targeting to membrane (GO:0006613)2.87841407
129transcription-coupled nucleotide-excision repair (GO:0006283)2.86736350
130B cell mediated immunity (GO:0019724)2.86184204
131negative regulation of mitosis (GO:0045839)2.85963879
132positive regulation of natural killer cell activation (GO:0032816)2.85719048
133regulation of double-strand break repair via homologous recombination (GO:0010569)2.85282850
134maturation of SSU-rRNA (GO:0030490)2.83643650
135protein targeting to ER (GO:0045047)2.83617925
136replication fork processing (GO:0031297)2.83478699
137spindle assembly checkpoint (GO:0071173)2.83460259
138DNA catabolic process, exonucleolytic (GO:0000738)2.83393226
139sister chromatid segregation (GO:0000819)2.82516563
140cellular response to virus (GO:0098586)2.82314193
141response to muramyl dipeptide (GO:0032495)2.82252205
142pyrimidine nucleotide catabolic process (GO:0006244)2.82222616
143nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.81801401
144ribonucleoprotein complex biogenesis (GO:0022613)2.81284788
145pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.77979601
146pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.77214150
147single strand break repair (GO:0000012)2.76913605
148positive regulation of interleukin-17 production (GO:0032740)2.76823363
149regulation of natural killer cell activation (GO:0032814)2.74012212
150respiratory chain complex IV assembly (GO:0008535)2.73423717
151mitotic chromosome condensation (GO:0007076)2.73319872
152nucleotide-excision repair, DNA gap filling (GO:0006297)2.73136581
153positive regulation of interferon-beta production (GO:0032728)2.72891848
154positive regulation of interleukin-12 production (GO:0032735)2.72595807
155establishment of protein localization to endoplasmic reticulum (GO:0072599)2.70688482
156guanosine-containing compound biosynthetic process (GO:1901070)2.69325893
157DNA damage response, detection of DNA damage (GO:0042769)2.69294769
158regulation of chromosome segregation (GO:0051983)2.68934201
159regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.68804483
160maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.68746682
161neutrophil mediated immunity (GO:0002446)2.67771552
162negative regulation of myeloid cell apoptotic process (GO:0033033)2.65802570
163response to protozoan (GO:0001562)2.65668939
164regulation of hypersensitivity (GO:0002883)2.64690573
165myeloid dendritic cell activation (GO:0001773)2.63034605
166regulation of chemokine biosynthetic process (GO:0045073)2.60853157
167positive regulation of heterotypic cell-cell adhesion (GO:0034116)2.60502625
168cellular response to interferon-alpha (GO:0035457)2.56975586
169myeloid dendritic cell differentiation (GO:0043011)2.56099803
170Arp2/3 complex-mediated actin nucleation (GO:0034314)2.55926828
171regulation of T-helper 1 cell differentiation (GO:0045625)2.53153564
172positive regulation of T cell migration (GO:2000406)2.52873729
173positive regulation of chemokine biosynthetic process (GO:0045080)2.52151526
174positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.50984584
175negative regulation of interleukin-17 production (GO:0032700)2.47210186
176natural killer cell differentiation (GO:0001779)2.46592804
177positive regulation of T cell chemotaxis (GO:0010820)2.46177297
178regulation of T cell chemotaxis (GO:0010819)2.46177297
179regulation of type I interferon-mediated signaling pathway (GO:0060338)2.45300409
180positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.42559576
181regulation of defense response to virus by host (GO:0050691)2.42406107
182valine metabolic process (GO:0006573)2.41674402
183positive regulation of gamma-delta T cell activation (GO:0046645)2.41029029
184positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.39889862
185positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.39682659
186membrane protein intracellular domain proteolysis (GO:0031293)2.39509951
187lymphocyte mediated immunity (GO:0002449)2.37488085
188positive regulation of toll-like receptor signaling pathway (GO:0034123)2.37435881
189positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.37126719
190defense response to virus (GO:0051607)2.36812067
191regulation of T cell migration (GO:2000404)2.36337571
192modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.36232534
193modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.36232534
194positive regulation by organism of defense response of other organism involved in symbiotic interact2.36232534
195modulation by symbiont of host immune response (GO:0052553)2.36232534
196positive regulation by symbiont of host defense response (GO:0052509)2.36232534
197modulation by symbiont of host defense response (GO:0052031)2.36232534
198dendritic cell differentiation (GO:0097028)2.35919001
199regulation of interleukin-17 production (GO:0032660)2.35009349
200cell killing (GO:0001906)2.33471915

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.95501845
2IRF8_22096565_ChIP-ChIP_GC-B_Human5.77275188
3IRF8_21731497_ChIP-ChIP_J774_Mouse4.95495087
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.28889739
5MYC_18555785_ChIP-Seq_MESCs_Mouse3.96274331
6IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.70684168
7IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.67568169
8E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.48178821
9HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.45742068
10EST1_17652178_ChIP-ChIP_JURKAT_Human3.26121841
11FOXM1_23109430_ChIP-Seq_U2OS_Human3.25858614
12JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.24715406
13* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.20723446
14BP1_19119308_ChIP-ChIP_Hs578T_Human3.10663594
15E2F4_17652178_ChIP-ChIP_JURKAT_Human3.08708470
16MYC_18358816_ChIP-ChIP_MESCs_Mouse3.02852007
17IRF8_27001747_Chip-Seq_BMDM_Mouse2.99200933
18ETS1_20019798_ChIP-Seq_JURKAT_Human2.85478365
19MYC_19079543_ChIP-ChIP_MESCs_Mouse2.80763006
20STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.75765440
21* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.73386092
22MYC_19030024_ChIP-ChIP_MESCs_Mouse2.71716747
23TP63_17297297_ChIP-ChIP_HaCaT_Human2.67464229
24SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.62708609
25MYB_21317192_ChIP-Seq_ERMYB_Mouse2.62281317
26CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.56468912
27MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.47018314
28SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.43824222
29FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.42681038
30TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.42351484
31RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.40237910
32THAP11_20581084_ChIP-Seq_MESCs_Mouse2.39930393
33MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.34080533
34XRN2_22483619_ChIP-Seq_HELA_Human2.33699540
35GATA1_22025678_ChIP-Seq_K562_Human2.31295321
36Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.27541186
37PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.27280834
38MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.25596491
39NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.18258480
40FOXP3_21729870_ChIP-Seq_TREG_Human2.18086497
41STAT4_19710469_ChIP-ChIP_TH1__Mouse2.15923509
42NELFA_20434984_ChIP-Seq_ESCs_Mouse2.15368152
43STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.14486738
44E2F1_18555785_ChIP-Seq_MESCs_Mouse2.11096669
45HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.06951677
46DCP1A_22483619_ChIP-Seq_HELA_Human2.05632095
47ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.04585032
48TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.02839070
49TTF2_22483619_ChIP-Seq_HELA_Human2.00455166
50GABP_19822575_ChIP-Seq_HepG2_Human1.99240580
51* VDR_23849224_ChIP-Seq_CD4+_Human1.93253345
52SPI1_23547873_ChIP-Seq_NB4_Human1.92519585
53AR_21909140_ChIP-Seq_LNCAP_Human1.90199233
54SRF_21415370_ChIP-Seq_HL-1_Mouse1.87912970
55YY1_21170310_ChIP-Seq_MESCs_Mouse1.85634460
56PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.82384541
57STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.79958709
58MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.71394712
59CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.69762394
60POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.69460526
61MYCN_18555785_ChIP-Seq_MESCs_Mouse1.69378259
62BRD4_27068464_Chip-Seq_AML-cells_Mouse1.67822288
63EGR1_23403033_ChIP-Seq_LIVER_Mouse1.66972504
64ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.64896086
65SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.63762936
66CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.63456878
67CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.55905684
68STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.55026629
69NANOG_18555785_ChIP-Seq_MESCs_Mouse1.53893219
70KDM5A_27292631_Chip-Seq_BREAST_Human1.53830276
71E2F1_21310950_ChIP-Seq_MCF-7_Human1.53124365
72PPARA_22158963_ChIP-Seq_LIVER_Mouse1.51390157
73CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.51086953
74MYB_26560356_Chip-Seq_TH2_Human1.49593682
75YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.49228901
76FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.47612683
77RXR_22158963_ChIP-Seq_LIVER_Mouse1.46115809
78SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.45353450
79EGR1_19374776_ChIP-ChIP_THP-1_Human1.44967362
80ZFX_18555785_ChIP-Seq_MESCs_Mouse1.41078323
81ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.38944582
82PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.37266431
83RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.36134929
84PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.34951341
85FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.34808739
86VDR_24763502_ChIP-Seq_THP-1_Human1.34040535
87ELK1_19687146_ChIP-ChIP_HELA_Human1.33032551
88POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.32907337
89BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.32359792
90E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.31345145
91CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.31023188
92PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.30677923
93GATA2_22383799_ChIP-Seq_G1ME_Mouse1.25651395
94MAF_26560356_Chip-Seq_TH1_Human1.23830471
95PU_27001747_Chip-Seq_BMDM_Mouse1.23683151
96PADI4_21655091_ChIP-ChIP_MCF-7_Human1.23680934
97RUNX1_22412390_ChIP-Seq_EML_Mouse1.23310540
98LXR_22158963_ChIP-Seq_LIVER_Mouse1.23076507
99CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.22385609
100P63_26484246_Chip-Seq_KERATINOCYTES_Human1.22191505
101ELF1_17652178_ChIP-ChIP_JURKAT_Human1.18021028
102FOXP1_21924763_ChIP-Seq_HESCs_Human1.16993140
103SOX2_27498859_Chip-Seq_STOMACH_Mouse1.16619315
104PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.16109467
105SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.15750255
106MYB_26560356_Chip-Seq_TH1_Human1.15146629
107SOX2_20726797_ChIP-Seq_SW620_Human1.12064937
108DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.11040328
109MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.09608864
110MYC_18940864_ChIP-ChIP_HL60_Human1.09077256
111VDR_21846776_ChIP-Seq_THP-1_Human1.08994484
112SCL_19346495_ChIP-Seq_HPC-7_Human1.08693609
113SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.08419309
114SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.08419309
115TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.08071941
116CIITA_25753668_ChIP-Seq_RAJI_Human1.07754729
117DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.07409189
118GATA4_25053715_ChIP-Seq_YYC3_Human1.07177055
119KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.07146366
120KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.07146366
121KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.07146366
122GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.06791816
123ERG_20887958_ChIP-Seq_HPC-7_Mouse1.06620420
124GATA3_27048872_Chip-Seq_THYMUS_Human1.06390410
125CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.05852888
126CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.04035171
127CREB1_15753290_ChIP-ChIP_HEK293T_Human1.03591551
128GATA3_26560356_Chip-Seq_TH2_Human1.03574426
129POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.03499514
130LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.02888451
131PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.01776461
132GATA1_22383799_ChIP-Seq_G1ME_Mouse1.01764274
133CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.01713132
134TP63_19390658_ChIP-ChIP_HaCaT_Human1.01690968
135SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.01179473
136VDR_24787735_ChIP-Seq_THP-1_Human1.00962357
137CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.00352965
138KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.97813980
139LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.97761518
140TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.97593828
141KLF4_18555785_ChIP-Seq_MESCs_Mouse0.97553296
142HOXB4_20404135_ChIP-ChIP_EML_Mouse0.97494114
143SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.97074431
144NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.96732680
145NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.95598140
146SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.95057012
147GABP_17652178_ChIP-ChIP_JURKAT_Human0.94876445
148* YY1_22570637_ChIP-Seq_MALME-3M_Human0.94803501
149ESR1_15608294_ChIP-ChIP_MCF-7_Human0.93069668
150ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.92919669
151KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.91769354
152GATA2_21666600_ChIP-Seq_HMVEC_Human0.91714410
153SOX2_16153702_ChIP-ChIP_HESCs_Human0.91278166
154CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.91039603
155FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.89788209
156CTCF_18555785_ChIP-Seq_MESCs_Mouse0.89115874
157* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.87707931
158TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.87363961
159EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.86768055
160SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.86690017
161SOX2_18555785_ChIP-Seq_MESCs_Mouse0.86147536
162CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.85972638
163CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.85680406
164FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.85523654
165CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.84174305
166NANOG_16153702_ChIP-ChIP_HESCs_Human0.82235273
167FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.81313794
168TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.80778534
169NANOG_21062744_ChIP-ChIP_HESCs_Human0.80261770
170CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.79531345
171RUNX_20019798_ChIP-Seq_JUKART_Human0.79125753
172HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.78740312
173PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.78522350
174GATA6_25053715_ChIP-Seq_YYC3_Human0.78331534
175HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.77598157
176GATA3_24758297_ChIP-Seq_MCF-7_Human0.77563855
177ZNF263_19887448_ChIP-Seq_K562_Human0.77547969
178GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.76608885
179STAT3_1855785_ChIP-Seq_MESCs_Mouse0.76569969
180* P68_20966046_ChIP-Seq_HELA_Human0.76533808
181CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.75879961
182KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.75319156
183TBX5_21415370_ChIP-Seq_HL-1_Mouse0.74099939

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching4.90778865
2MP0008058_abnormal_DNA_repair4.36319378
3MP0010094_abnormal_chromosome_stability4.24868442
4MP0001835_abnormal_antigen_presentation3.97874937
5MP0003111_abnormal_nucleus_morphology3.72875387
6MP0004957_abnormal_blastocyst_morpholog3.57375874
7MP0003718_maternal_effect3.47991652
8MP0009785_altered_susceptibility_to3.33288148
9MP0002148_abnormal_hypersensitivity_rea3.19613941
10MP0003077_abnormal_cell_cycle3.13457381
11MP0003136_yellow_coat_color2.93395104
12MP0008007_abnormal_cellular_replicative2.93016027
13MP0003436_decreased_susceptibility_to2.83957426
14MP0008932_abnormal_embryonic_tissue2.75915274
15MP0003941_abnormal_skin_development2.60477025
16MP0000685_abnormal_immune_system2.55940339
17MP0005025_abnormal_response_to2.55061411
18MP0002419_abnormal_innate_immunity2.44199700
19MP0002166_altered_tumor_susceptibility2.40417835
20MP0008057_abnormal_DNA_replication2.35996013
21MP0005671_abnormal_response_to2.35496363
22MP0005000_abnormal_immune_tolerance2.35302799
23MP0005058_abnormal_lysosome_morphology2.29972569
24MP0006292_abnormal_olfactory_placode2.21791712
25MP0005387_immune_system_phenotype2.18872037
26MP0001790_abnormal_immune_system2.18872037
27MP0003724_increased_susceptibility_to2.17690918
28MP0005310_abnormal_salivary_gland2.16758409
29MP0006082_CNS_inflammation2.16237371
30MP0002006_tumorigenesis2.13821064
31MP0003786_premature_aging2.07458904
32MP0002452_abnormal_antigen_presenting1.99668131
33MP0004947_skin_inflammation1.99045901
34MP0002723_abnormal_immune_serum1.96374970
35MP0010030_abnormal_orbit_morphology1.92588341
36MP0002138_abnormal_hepatobiliary_system1.91784488
37MP0003186_abnormal_redox_activity1.88349026
38MP0001853_heart_inflammation1.87081743
39MP0001800_abnormal_humoral_immune1.83895377
40MP0010234_abnormal_vibrissa_follicle1.82840443
41MP0009379_abnormal_foot_pigmentation1.75012095
42MP0001819_abnormal_immune_cell1.74412580
43MP0004782_abnormal_surfactant_physiolog1.73245104
44MP0002420_abnormal_adaptive_immunity1.70293607
45MP0002254_reproductive_system_inflammat1.70032286
46MP0003191_abnormal_cellular_cholesterol1.69365500
47MP0010155_abnormal_intestine_physiology1.68634651
48MP0009840_abnormal_foam_cell1.66975230
49MP0005410_abnormal_fertilization1.66844536
50MP0005501_abnormal_skin_physiology1.66705761
51MP0006035_abnormal_mitochondrial_morpho1.63660102
52MP0001929_abnormal_gametogenesis1.63112793
53MP0005451_abnormal_body_composition1.62055099
54MP0006036_abnormal_mitochondrial_physio1.61268030
55MP0009764_decreased_sensitivity_to1.60398928
56MP0001845_abnormal_inflammatory_respons1.60149109
57MP0008877_abnormal_DNA_methylation1.58928468
58MP0000579_abnormal_nail_morphology1.58840073
59MP0003303_peritoneal_inflammation1.57715943
60MP0005464_abnormal_platelet_physiology1.57063805
61MP0000350_abnormal_cell_proliferation1.56511901
62MP0001533_abnormal_skeleton_physiology1.55125513
63MP0001873_stomach_inflammation1.53569618
64MP0008469_abnormal_protein_level1.51616729
65MP0001730_embryonic_growth_arrest1.47712362
66MP0002405_respiratory_system_inflammati1.47367577
67MP0001293_anophthalmia1.43802717
68MP0008789_abnormal_olfactory_epithelium1.40808565
69MP0002210_abnormal_sex_determination1.39819034
70MP0009697_abnormal_copulation1.34004373
71MP0009333_abnormal_splenocyte_physiolog1.33746894
72MP0000858_altered_metastatic_potential1.33677531
73MP0000343_altered_response_to1.33609296
74MP0003448_altered_tumor_morphology1.33308964
75MP0000313_abnormal_cell_death1.30140648
76MP0002653_abnormal_ependyma_morphology1.29545056
77MP0003698_abnormal_male_reproductive1.27062813
78MP0000716_abnormal_immune_system1.26866611
79MP0001346_abnormal_lacrimal_gland1.26466088
80MP0009672_abnormal_birth_weight1.25514653
81MP0003119_abnormal_digestive_system1.24728590
82MP0008995_early_reproductive_senescence1.24225239
83MP0005380_embryogenesis_phenotype1.23439126
84MP0001672_abnormal_embryogenesis/_devel1.23439126
85MP0000653_abnormal_sex_gland1.22044852
86MP0001145_abnormal_male_reproductive1.20714249
87MP0001697_abnormal_embryo_size1.20384980
88MP0001666_abnormal_nutrient_absorption1.18477472
89MP0004510_myositis1.18388893
90MP0002080_prenatal_lethality1.17170438
91MP0005360_urolithiasis1.16016761
92MP0008875_abnormal_xenobiotic_pharmacok1.15046004
93MP0003453_abnormal_keratinocyte_physiol1.13457395
94MP0002938_white_spotting1.13314056
95MP0002277_abnormal_respiratory_mucosa1.10881225
96MP0002396_abnormal_hematopoietic_system1.09144966
97MP0000566_synostosis1.08958061
98MP0002398_abnormal_bone_marrow1.08482288
99MP0005395_other_phenotype1.08227536
100MP0000516_abnormal_urinary_system1.07844392
101MP0005367_renal/urinary_system_phenotyp1.07844392
102MP0001545_abnormal_hematopoietic_system1.07589752
103MP0005397_hematopoietic_system_phenotyp1.07589752
104MP0001188_hyperpigmentation1.06242803
105MP0002085_abnormal_embryonic_tissue1.05586682
106MP0000678_abnormal_parathyroid_gland1.04940778
107MP0005408_hypopigmentation1.04610570
108MP0002796_impaired_skin_barrier1.03935937
109MP0003075_altered_response_to1.03434659
110MP0000604_amyloidosis1.02845566
111MP0002234_abnormal_pharynx_morphology1.02202330
112MP0003300_gastrointestinal_ulcer1.02098676
113MP0002098_abnormal_vibrissa_morphology1.01887096
114MP0009763_increased_sensitivity_to1.00880848
115MP0002429_abnormal_blood_cell1.00238091
116MP0001881_abnormal_mammary_gland1.00031543
117MP0003984_embryonic_growth_retardation0.99534874
118MP0002009_preneoplasia0.97432614
119MP0001216_abnormal_epidermal_layer0.97101897
120MP0010352_gastrointestinal_tract_polyps0.95957580
121MP0000358_abnormal_cell_content/0.95800064
122MP0010678_abnormal_skin_adnexa0.95523990
123MP0002132_abnormal_respiratory_system0.95511855
124MP0003656_abnormal_erythrocyte_physiolo0.95103067
125MP0002088_abnormal_embryonic_growth/wei0.94551319
126MP0002019_abnormal_tumor_incidence0.94003072
127MP0002161_abnormal_fertility/fecundity0.93448330
128MP0005394_taste/olfaction_phenotype0.93149558
129MP0005499_abnormal_olfactory_system0.93149558
130MP0000467_abnormal_esophagus_morphology0.92802567
131MP0004133_heterotaxia0.92531497
132MP0000689_abnormal_spleen_morphology0.91006976
133MP0004381_abnormal_hair_follicle0.90822845
134MP0002084_abnormal_developmental_patter0.89532707
135MP0002722_abnormal_immune_system0.88258922
136MP0003315_abnormal_perineum_morphology0.87764652
137MP0001119_abnormal_female_reproductive0.87634493
138MP0005166_decreased_susceptibility_to0.86665036
139MP0010307_abnormal_tumor_latency0.85857133
140MP0005332_abnormal_amino_acid0.85839414
141MP0005075_abnormal_melanosome_morpholog0.85802295
142MP0005174_abnormal_tail_pigmentation0.85528996
143MP0005319_abnormal_enzyme/_coenzyme0.85462750
144MP0000490_abnormal_crypts_of0.84638663
145MP0001851_eye_inflammation0.84349340
146MP0003195_calcinosis0.83004098
147MP0003828_pulmonary_edema0.82748757
148MP0000377_abnormal_hair_follicle0.82677592
149MP0003699_abnormal_female_reproductive0.82389410
150MP0005085_abnormal_gallbladder_physiolo0.81361134
151MP0005365_abnormal_bile_salt0.80399867
152MP0002998_abnormal_bone_remodeling0.80168783
153MP0005084_abnormal_gallbladder_morpholo0.79966691
154MP0004019_abnormal_vitamin_homeostasis0.79966557
155MP0006054_spinal_hemorrhage0.79166791
156MP0005275_abnormal_skin_tensile0.78997909
157MP0002111_abnormal_tail_morphology0.78180388
158MP0004197_abnormal_fetal_growth/weight/0.77108184
159MP0009643_abnormal_urine_homeostasis0.76776635
160MP0009278_abnormal_bone_marrow0.76542891
161MP0002136_abnormal_kidney_physiology0.75873545
162MP0003763_abnormal_thymus_physiology0.75758957
163MP0003567_abnormal_fetal_cardiomyocyte0.75362607
164MP0003705_abnormal_hypodermis_morpholog0.75354625
165MP0000383_abnormal_hair_follicle0.74690437
166MP0000465_gastrointestinal_hemorrhage0.73888987
167MP0005164_abnormal_response_to0.73600631
168MP0002282_abnormal_trachea_morphology0.73504692
169MP0003566_abnormal_cell_adhesion0.72792388
170MP0000537_abnormal_urethra_morphology0.72364230
171MP0000609_abnormal_liver_physiology0.72082701
172MP0005390_skeleton_phenotype0.71365890
173MP0003806_abnormal_nucleotide_metabolis0.70815048
174MP0001764_abnormal_homeostasis0.69291161
175MP0005670_abnormal_white_adipose0.68632723
176MP0002249_abnormal_larynx_morphology0.68572296
177MP0010386_abnormal_urinary_bladder0.68417723
178MP0002139_abnormal_hepatobiliary_system0.68167369
179MP0005647_abnormal_sex_gland0.68124129
180MP0001286_abnormal_eye_development0.68035198
181MP0003866_abnormal_defecation0.67107368
182MP0002933_joint_inflammation0.66258697
183MP0000613_abnormal_salivary_gland0.65683587
184MP0005645_abnormal_hypothalamus_physiol0.63430165
185MP0003011_delayed_dark_adaptation0.63222792
186MP0005377_hearing/vestibular/ear_phenot0.60496926
187MP0003878_abnormal_ear_physiology0.60496926
188MP0001529_abnormal_vocalization0.60113130

Predicted human phenotypes

RankGene SetZ-score
1Recurrent bacterial skin infections (HP:0005406)5.90715733
2Recurrent abscess formation (HP:0002722)5.86885841
3Eczematoid dermatitis (HP:0000976)5.56660534
4Recurrent gram-negative bacterial infections (HP:0005420)4.95157149
5Vacuolated lymphocytes (HP:0001922)4.79923605
6Abnormality of macrophages (HP:0004311)4.47192143
7Abnormality of the labia minora (HP:0012880)3.92845596
8Elevated erythrocyte sedimentation rate (HP:0003565)3.87061545
9Recurrent skin infections (HP:0001581)3.62995014
10Autoimmune thrombocytopenia (HP:0001973)3.44572828
11Acute encephalopathy (HP:0006846)3.40199173
12Chronic otitis media (HP:0000389)3.37323163
13Acute necrotizing encephalopathy (HP:0006965)3.32254029
14Mediastinal lymphadenopathy (HP:0100721)3.27506989
15Colon cancer (HP:0003003)3.27066429
16Chromosomal breakage induced by crosslinking agents (HP:0003221)3.26055809
17Increased IgM level (HP:0003496)3.23306644
18Pustule (HP:0200039)3.22886272
19Hypergammaglobulinemia (HP:0010702)3.16424178
20Abnormality of glycolysis (HP:0004366)3.16358569
21Hepatocellular necrosis (HP:0001404)3.13861397
22Abnormal mitochondria in muscle tissue (HP:0008316)3.10461641
23Increased IgE level (HP:0003212)3.06836321
24Mitochondrial inheritance (HP:0001427)3.06257254
25Birth length less than 3rd percentile (HP:0003561)3.05917633
26Chromsome breakage (HP:0040012)3.03881973
27Increased serum pyruvate (HP:0003542)3.02908044
28Recurrent fungal infections (HP:0002841)2.99312297
29Thrombocytosis (HP:0001894)2.95835352
30Gingivitis (HP:0000230)2.94493784
31Interstitial pulmonary disease (HP:0006530)2.91681458
32Periodontitis (HP:0000704)2.90631130
33Increased CSF lactate (HP:0002490)2.86690292
34Myositis (HP:0100614)2.86050349
35Vasculitis (HP:0002633)2.85812265
36Urticaria (HP:0001025)2.85508420
37Increased hepatocellular lipid droplets (HP:0006565)2.85222272
38Lipid accumulation in hepatocytes (HP:0006561)2.84321344
39Hyperglycinemia (HP:0002154)2.84215427
40Abnormality of the preputium (HP:0100587)2.83394645
41Recurrent viral infections (HP:0004429)2.83228025
42Type I transferrin isoform profile (HP:0003642)2.74718844
43Chronic obstructive pulmonary disease (HP:0006510)2.74304089
44Obstructive lung disease (HP:0006536)2.74304089
45Microvesicular hepatic steatosis (HP:0001414)2.69608726
46Axonal loss (HP:0003447)2.69490422
47Thick nail (HP:0001805)2.69331927
48Testicular atrophy (HP:0000029)2.68813000
49Osteolytic defects of the phalanges of the hand (HP:0009771)2.68597711
50Osteolytic defects of the hand bones (HP:0009699)2.68597711
51Autoimmune hemolytic anemia (HP:0001890)2.67923055
52Hepatic necrosis (HP:0002605)2.66033033
53Abnormal number of erythroid precursors (HP:0012131)2.65640466
54Renal Fanconi syndrome (HP:0001994)2.64991047
55Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.64533989
56Systemic lupus erythematosus (HP:0002725)2.64187270
57Gastrointestinal infarctions (HP:0005244)2.63775987
58Basal ganglia calcification (HP:0002135)2.62981864
59Abnormality of serine family amino acid metabolism (HP:0010894)2.59959638
60Abnormality of glycine metabolism (HP:0010895)2.59959638
61Meckel diverticulum (HP:0002245)2.59764478
62Prostate neoplasm (HP:0100787)2.58969736
63Hepatosplenomegaly (HP:0001433)2.57863577
64Petechiae (HP:0000967)2.57442074
65Hyperglycinuria (HP:0003108)2.57239711
66Multiple enchondromatosis (HP:0005701)2.55837730
67Cerebral edema (HP:0002181)2.49376261
68Macrocytic anemia (HP:0001972)2.45351982
69Pili torti (HP:0003777)2.43686905
70Abnormal protein glycosylation (HP:0012346)2.39781530
71Abnormal glycosylation (HP:0012345)2.39781530
72Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.39781530
73Abnormal protein N-linked glycosylation (HP:0012347)2.39781530
74Abnormal lung lobation (HP:0002101)2.39118160
75Increased serum lactate (HP:0002151)2.38418338
76Abnormality of the ileum (HP:0001549)2.37720032
77Progressive macrocephaly (HP:0004481)2.37136917
78Abnormality of methionine metabolism (HP:0010901)2.34655167
79Prolonged neonatal jaundice (HP:0006579)2.33792211
80Poor head control (HP:0002421)2.33669119
81Orchitis (HP:0100796)2.32663535
82Duodenal stenosis (HP:0100867)2.32635702
83Small intestinal stenosis (HP:0012848)2.32635702
84Myocardial infarction (HP:0001658)2.30879809
85Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.30350426
86Lactic acidosis (HP:0003128)2.30120795
87Loss of speech (HP:0002371)2.29871093
88Increased neuronal autofluorescent lipopigment (HP:0002074)2.26611700
89Aplasia/Hypoplasia of the uvula (HP:0010293)2.25944204
90Eosinophilia (HP:0001880)2.23738968
91Nasal polyposis (HP:0100582)2.20218494
92Exercise intolerance (HP:0003546)2.19854383
93Gingival bleeding (HP:0000225)2.19479121
94Myelodysplasia (HP:0002863)2.19008264
95Respiratory difficulties (HP:0002880)2.17138901
96Increased cerebral lipofuscin (HP:0011813)2.17085505
97Tetraparesis (HP:0002273)2.16979211
98Steatorrhea (HP:0002570)2.16737899
99Congenital ichthyosiform erythroderma (HP:0007431)2.12075755
100Prolonged partial thromboplastin time (HP:0003645)2.11949693
101Cellulitis (HP:0100658)2.10038555
102Abnormality of chromosome stability (HP:0003220)2.09255793
103Oral leukoplakia (HP:0002745)2.09110371
104Abnormality of serum amino acid levels (HP:0003112)2.08551911
105Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.08486353
106Abnormality of T cell physiology (HP:0011840)2.08388817
107Impulsivity (HP:0100710)2.07577403
108Abnormality of the nasal mucosa (HP:0000433)2.06941784
109Methylmalonic aciduria (HP:0012120)2.05835440
110Lethargy (HP:0001254)2.04980290
111Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.04749780
112Leukocytosis (HP:0001974)2.04390814
113Abnormality of the duodenum (HP:0002246)2.04374691
114Increased intramyocellular lipid droplets (HP:0012240)2.04272799
115Cholecystitis (HP:0001082)2.03796987
116Abnormal gallbladder physiology (HP:0012438)2.03796987
117Granulocytopenia (HP:0001913)2.03496361
118Stomatitis (HP:0010280)2.03076109
119Abnormality of sulfur amino acid metabolism (HP:0004339)2.02795962
120Abnormality of the prostate (HP:0008775)2.02619421
121Mucopolysacchariduria (HP:0008155)2.01230185
122Urinary glycosaminoglycan excretion (HP:0003541)2.01230185
123Recurrent pneumonia (HP:0006532)2.00221670
124Absent thumb (HP:0009777)1.99883293
125Rough bone trabeculation (HP:0100670)1.99851290
126Skin ulcer (HP:0200042)1.99815515
127Hyperinsulinemic hypoglycemia (HP:0000825)1.99744240
128Exertional dyspnea (HP:0002875)1.99721332
129Sloping forehead (HP:0000340)1.99352022
130Cerebral hypomyelination (HP:0006808)1.97529048
131Methylmalonic acidemia (HP:0002912)1.96150554
132Abnormality of cells of the erythroid lineage (HP:0012130)1.96113273
133Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.95864772
134Absent radius (HP:0003974)1.95037279
135Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.94175089
136Decreased activity of mitochondrial respiratory chain (HP:0008972)1.94175089
137Hemoptysis (HP:0002105)1.94126325
138Septo-optic dysplasia (HP:0100842)1.93980835
139Pulmonary infiltrates (HP:0002113)1.93920733
140Nausea (HP:0002018)1.92890551
141Nephroblastoma (Wilms tumor) (HP:0002667)1.92559049
142Postnatal microcephaly (HP:0005484)1.92245430
143Albinism (HP:0001022)1.92166105
144Optic neuritis (HP:0100653)1.91247795
145Retrobulbar optic neuritis (HP:0100654)1.91247795
146Increased muscle lipid content (HP:0009058)1.91160123
147Abnormality of aspartate family amino acid metabolism (HP:0010899)1.90976226
148Esophageal varix (HP:0002040)1.90918209
149Triphalangeal thumb (HP:0001199)1.90366419
150Premature ovarian failure (HP:0008209)1.90138080
151Spontaneous hematomas (HP:0007420)1.88916167
152Horseshoe kidney (HP:0000085)1.87494439
153Osteomyelitis (HP:0002754)1.86838990
154Pallor (HP:0000980)1.86503345
155Recurrent cutaneous fungal infections (HP:0011370)1.86143118
156Chronic mucocutaneous candidiasis (HP:0002728)1.86143118
157Pancytopenia (HP:0001876)1.86030448
158Abnormal trabecular bone morphology (HP:0100671)1.85283577
159Erythroderma (HP:0001019)1.85281715
160Neutropenia (HP:0001875)1.85100656
161Aplasia/Hypoplasia of the sacrum (HP:0008517)1.85063399
162Dysostosis multiplex (HP:0000943)1.84573976
163Respiratory failure (HP:0002878)1.84330014
164Megaloblastic anemia (HP:0001889)1.82519627
165Ependymoma (HP:0002888)1.82490753
166Anhidrosis (HP:0000970)1.81728245
167Amniotic constriction ring (HP:0009775)1.81710635
168Abnormality of placental membranes (HP:0011409)1.81710635
169Reticulocytopenia (HP:0001896)1.81527923
170Abnormal hair laboratory examination (HP:0003328)1.81092539
171Absent forearm bone (HP:0003953)1.80821850
172Aplasia involving forearm bones (HP:0009822)1.80821850
173Anorexia (HP:0002039)1.79031766
174Hypoplastic pelvis (HP:0008839)1.77985654
175Abnormality of polysaccharide metabolism (HP:0011012)1.76837821
176Abnormality of glycosaminoglycan metabolism (HP:0004371)1.76837821
177Abnormality of mucopolysaccharide metabolism (HP:0011020)1.76837821
178Parakeratosis (HP:0001036)1.75977498
179Gangrene (HP:0100758)1.75761938
180Premature loss of primary teeth (HP:0006323)1.75385283
181Erythema (HP:0010783)1.74365016
182Hematochezia (HP:0002573)1.73996574
183Cheilitis (HP:0100825)1.73765175
184Abnormal hair whorl (HP:0010721)1.73625148
185Squamous cell carcinoma (HP:0002860)1.73153794
186Sparse eyelashes (HP:0000653)1.72526150
187Abnormality of dicarboxylic acid metabolism (HP:0010995)1.72388169
188Dicarboxylic aciduria (HP:0003215)1.72388169
189Recurrent lower respiratory tract infections (HP:0002783)1.70084410
190Progressive visual loss (HP:0000529)1.70001270
191Meningitis (HP:0001287)1.69806622
192Epistaxis (HP:0000421)1.69743777
193Joint hemorrhage (HP:0005261)1.69575344
194Polyneuropathy (HP:0001271)1.69028360
195Abnormality of T cell number (HP:0011839)1.68744398
196Reduced antithrombin III activity (HP:0001976)1.68143319

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.56705580
2VRK25.37358789
3MAP3K143.56904737
4TTK3.36318557
5PBK3.13225254
6TBK13.09405402
7CDC72.97024656
8MST42.90791716
9TYK22.84354420
10NEK12.72014292
11TSSK62.71061785
12NME12.56015369
13SRPK12.50897473
14TAF12.49714287
15IRAK42.45113574
16IKBKE2.40662073
17PIM22.38803206
18BLK2.32060503
19VRK12.31384228
20ERN12.30726494
21ZAK2.30657781
22IKBKB2.29244138
23RIPK42.28289768
24IRAK32.23513669
25NME22.20960337
26PLK42.15870027
27PLK32.15458862
28JAK32.13750924
29SMG12.12461761
30BRSK21.95872826
31STK391.91483492
32TAOK31.84105366
33BCKDK1.77181900
34EPHB11.77042350
35PLK11.73724231
36BRSK11.71847162
37KIT1.66890102
38NEK91.62458375
39MAPK151.59712213
40MKNK11.57689679
41TRPM71.57126876
42RPS6KA41.52504870
43MKNK21.47291369
44BTK1.46576438
45CHEK21.42526338
46WEE11.42374916
47MAP4K21.41216878
48CDK71.39642860
49TESK11.38092412
50MAP4K11.38072416
51LRRK21.33109312
52NEK21.30990450
53BMPR1B1.30898599
54JAK11.30650052
55ATR1.28244560
56MAP2K31.26990119
57CHUK1.25777846
58STK101.25117039
59EIF2AK31.24411905
60MST1R1.22522965
61STK41.22502239
62MUSK1.20681136
63CSF1R1.18030292
64PIK3CG1.16927318
65FLT31.16679734
66DYRK21.15195006
67CDK191.13149401
68ACVR1B1.10808109
69AURKB1.10075997
70EIF2AK11.09781474
71EIF2AK21.06695937
72TEC1.06511111
73ZAP701.06175965
74ABL21.02443111
75STK30.98585088
76MAP3K30.97827841
77MAP3K130.97500382
78SYK0.94576389
79AURKA0.94551986
80TRIM280.92982124
81TLK10.89909654
82PASK0.89202108
83TXK0.86158502
84EPHA20.85764763
85FGFR40.84424414
86AKT30.83409312
87TESK20.81981230
88MYLK0.81957349
89DAPK10.80155619
90CDK80.79370137
91STK240.79278820
92PIM10.78331682
93ERBB30.77210593
94LCK0.76383314
95WNK30.76197769
96JAK20.75234231
97BMPR20.74609112
98RPS6KB20.73779496
99CHEK10.71363763
100ARAF0.69341696
101CSK0.68674023
102ATM0.68312896
103NUAK10.67527694
104PRKCI0.67217683
105MELK0.66486211
106LYN0.66426274
107SIK10.65506797
108MAPKAPK20.64878957
109TTN0.64242793
110MAP3K110.64104768
111MAPKAPK30.64102997
112PTK60.62087191
113CDK90.59729035
114CSNK2A10.59128596
115TAOK20.58160890
116CLK10.57663498
117MAP2K20.56072105
118MET0.55769455
119CSNK1G10.55571809
120CSNK2A20.55397213
121CDK40.55369668
122BCR0.54943014
123MAP3K80.54433612
124DYRK30.53672299
125TNK20.53469257
126BMX0.53464655
127RPS6KA60.52856940
128PRKCQ0.52821257
129PRKCD0.52028544
130CSNK1G30.51621478
131EPHA30.51210156
132HCK0.51052053
133PAK40.50958360
134ABL10.50952844
135TNIK0.49826391
136IRAK10.48809933
137CDK20.48119185
138LMTK20.47410715
139BRAF0.47003814
140NLK0.46061304
141CDK10.44587032
142ALK0.44454375
143NEK60.44352749
144OXSR10.42508124
145MATK0.42357787
146MAPKAPK50.41441813
147RPS6KA50.40768768
148GRK10.40263693
149KDR0.39780760
150TGFBR10.39163412
151RPS6KC10.38579288
152RPS6KL10.38579288
153SCYL20.38217000
154ITK0.37980811
155PKN20.37146652
156TGFBR20.36150790
157STK160.35085514
158PDK20.34659016
159RPS6KA10.33907948
160CCNB10.30948312
161CSNK1E0.28602955
162MARK30.28465860
163PAK10.27813992
164MAP3K100.27482806
165AKT20.26293219
166TIE10.25179388
167WNK40.24800814
168CDK30.24527861
169FGFR10.24264381
170PRKDC0.22761098
171CSNK1A1L0.22371814
172CSNK1G20.22226136

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030303.71326547
2Mismatch repair_Homo sapiens_hsa034303.25888488
3Base excision repair_Homo sapiens_hsa034103.05892360
4Cytosolic DNA-sensing pathway_Homo sapiens_hsa046233.00897578
5Allograft rejection_Homo sapiens_hsa053302.54839048
6Leishmaniasis_Homo sapiens_hsa051402.52888410
7RNA polymerase_Homo sapiens_hsa030202.48678139
8Homologous recombination_Homo sapiens_hsa034402.46790143
9Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.40404910
10Legionellosis_Homo sapiens_hsa051342.34956376
11Toll-like receptor signaling pathway_Homo sapiens_hsa046202.29554939
12RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.26537781
13One carbon pool by folate_Homo sapiens_hsa006702.25998178
14NF-kappa B signaling pathway_Homo sapiens_hsa040642.24279500
15Nucleotide excision repair_Homo sapiens_hsa034202.04891569
16Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.04803646
17Fanconi anemia pathway_Homo sapiens_hsa034602.03912682
18NOD-like receptor signaling pathway_Homo sapiens_hsa046212.01075097
19Graft-versus-host disease_Homo sapiens_hsa053321.94549718
20Non-homologous end-joining_Homo sapiens_hsa034501.91843758
21Pertussis_Homo sapiens_hsa051331.89361883
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.89358751
23Staphylococcus aureus infection_Homo sapiens_hsa051501.87349025
24Oxidative phosphorylation_Homo sapiens_hsa001901.87319991
25RNA transport_Homo sapiens_hsa030131.85581568
26Spliceosome_Homo sapiens_hsa030401.83782226
272-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.83419228
28Measles_Homo sapiens_hsa051621.82673661
29Pyrimidine metabolism_Homo sapiens_hsa002401.82141082
30Intestinal immune network for IgA production_Homo sapiens_hsa046721.79222236
31Parkinsons disease_Homo sapiens_hsa050121.77164874
32Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.76616327
33Biosynthesis of amino acids_Homo sapiens_hsa012301.75347404
34Cysteine and methionine metabolism_Homo sapiens_hsa002701.73155118
35Basal transcription factors_Homo sapiens_hsa030221.69452603
36Influenza A_Homo sapiens_hsa051641.69255677
37Pyruvate metabolism_Homo sapiens_hsa006201.68642885
38Malaria_Homo sapiens_hsa051441.65763206
39Cell cycle_Homo sapiens_hsa041101.61249168
40Herpes simplex infection_Homo sapiens_hsa051681.60042534
41Sulfur metabolism_Homo sapiens_hsa009201.58188993
42Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.51399937
43Lysosome_Homo sapiens_hsa041421.47882203
44Other glycan degradation_Homo sapiens_hsa005111.47344753
45Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.46074550
46RNA degradation_Homo sapiens_hsa030181.45700127
47Huntingtons disease_Homo sapiens_hsa050161.41822111
48Vitamin B6 metabolism_Homo sapiens_hsa007501.41292966
49Osteoclast differentiation_Homo sapiens_hsa043801.39885373
50Carbon metabolism_Homo sapiens_hsa012001.39592622
51Toxoplasmosis_Homo sapiens_hsa051451.39365102
52Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.38745904
53Ribosome_Homo sapiens_hsa030101.38278603
54Asthma_Homo sapiens_hsa053101.36725678
55Protein export_Homo sapiens_hsa030601.35750631
56Proteasome_Homo sapiens_hsa030501.33790216
57Tuberculosis_Homo sapiens_hsa051521.32836229
58Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.30268946
59TNF signaling pathway_Homo sapiens_hsa046681.29608229
60Antigen processing and presentation_Homo sapiens_hsa046121.28823200
61Caffeine metabolism_Homo sapiens_hsa002321.28044336
62Pentose and glucuronate interconversions_Homo sapiens_hsa000401.27717577
63Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.27165870
64Hepatitis C_Homo sapiens_hsa051601.27039235
65Rheumatoid arthritis_Homo sapiens_hsa053231.22117560
66Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.20652667
67Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.19216558
68Purine metabolism_Homo sapiens_hsa002301.18735453
69Apoptosis_Homo sapiens_hsa042101.13245411
70Autoimmune thyroid disease_Homo sapiens_hsa053201.12665599
71Jak-STAT signaling pathway_Homo sapiens_hsa046301.09905844
72Folate biosynthesis_Homo sapiens_hsa007901.09754574
73African trypanosomiasis_Homo sapiens_hsa051431.09129774
74Cyanoamino acid metabolism_Homo sapiens_hsa004601.06903848
75Salmonella infection_Homo sapiens_hsa051321.06372157
76Phagosome_Homo sapiens_hsa041451.04057482
77Histidine metabolism_Homo sapiens_hsa003401.02168570
78Fructose and mannose metabolism_Homo sapiens_hsa000511.01757110
79Glutathione metabolism_Homo sapiens_hsa004801.01651505
80Peroxisome_Homo sapiens_hsa041460.98928140
81Hematopoietic cell lineage_Homo sapiens_hsa046400.97028708
82Primary immunodeficiency_Homo sapiens_hsa053400.95845498
83Selenocompound metabolism_Homo sapiens_hsa004500.94428482
84Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.93939430
85Viral myocarditis_Homo sapiens_hsa054160.92275834
86Shigellosis_Homo sapiens_hsa051310.91925448
87Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.91677363
88Leukocyte transendothelial migration_Homo sapiens_hsa046700.90723789
89Butanoate metabolism_Homo sapiens_hsa006500.90685213
90Drug metabolism - other enzymes_Homo sapiens_hsa009830.90191191
91mRNA surveillance pathway_Homo sapiens_hsa030150.88797864
92Fatty acid metabolism_Homo sapiens_hsa012120.88725083
93Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.88546455
94Metabolic pathways_Homo sapiens_hsa011000.87771511
95Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.85948290
96Alzheimers disease_Homo sapiens_hsa050100.85561711
97Fatty acid degradation_Homo sapiens_hsa000710.83746819
98Primary bile acid biosynthesis_Homo sapiens_hsa001200.83571639
99Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.83492201
100Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.83115723
101Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.82483461
102Arachidonic acid metabolism_Homo sapiens_hsa005900.82100557
103Steroid biosynthesis_Homo sapiens_hsa001000.78964895
104Fatty acid elongation_Homo sapiens_hsa000620.78253575
105Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.77445196
106Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.76654415
107B cell receptor signaling pathway_Homo sapiens_hsa046620.75896852
108Renin-angiotensin system_Homo sapiens_hsa046140.75657527
109Sulfur relay system_Homo sapiens_hsa041220.71723567
110Pentose phosphate pathway_Homo sapiens_hsa000300.71534033
111Glycosaminoglycan degradation_Homo sapiens_hsa005310.71354795
112Complement and coagulation cascades_Homo sapiens_hsa046100.71196474
113Type I diabetes mellitus_Homo sapiens_hsa049400.70654723
114Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.69721783
115SNARE interactions in vesicular transport_Homo sapiens_hsa041300.68569813
116Galactose metabolism_Homo sapiens_hsa000520.68491984
117ABC transporters_Homo sapiens_hsa020100.67686716
118Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.67666711
119Chemical carcinogenesis_Homo sapiens_hsa052040.65778521
120alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.65540617
121Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.64006626
122Acute myeloid leukemia_Homo sapiens_hsa052210.63922745
123Hepatitis B_Homo sapiens_hsa051610.63588092
124N-Glycan biosynthesis_Homo sapiens_hsa005100.63434331
125Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.62003959
126Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.61295174
127Chemokine signaling pathway_Homo sapiens_hsa040620.57769384
128Arginine biosynthesis_Homo sapiens_hsa002200.57663692
129Amoebiasis_Homo sapiens_hsa051460.57481097
130Adipocytokine signaling pathway_Homo sapiens_hsa049200.56810785
131Tyrosine metabolism_Homo sapiens_hsa003500.56541161
132Oocyte meiosis_Homo sapiens_hsa041140.56370422
133p53 signaling pathway_Homo sapiens_hsa041150.55337394
134PPAR signaling pathway_Homo sapiens_hsa033200.54686997
135Fat digestion and absorption_Homo sapiens_hsa049750.54179514
136beta-Alanine metabolism_Homo sapiens_hsa004100.53767456
137Vitamin digestion and absorption_Homo sapiens_hsa049770.53594147
138Small cell lung cancer_Homo sapiens_hsa052220.52820350
139Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.51019958
140Retinol metabolism_Homo sapiens_hsa008300.50962006
141Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.50947961
142Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.50770884
143Linoleic acid metabolism_Homo sapiens_hsa005910.48021259
144Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.47591380
145Propanoate metabolism_Homo sapiens_hsa006400.47356562
146Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.46940759
147Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.46473134
148Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.46000533
149Epstein-Barr virus infection_Homo sapiens_hsa051690.45757187
150Sphingolipid metabolism_Homo sapiens_hsa006000.44257005
151Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.42163495
152Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.41052058
153Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.41039223
154Phenylalanine metabolism_Homo sapiens_hsa003600.40725101
155Tryptophan metabolism_Homo sapiens_hsa003800.40284154
156AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.39762276
157Arginine and proline metabolism_Homo sapiens_hsa003300.39156330
158Regulation of autophagy_Homo sapiens_hsa041400.37497179
159Lysine degradation_Homo sapiens_hsa003100.35204611
160Steroid hormone biosynthesis_Homo sapiens_hsa001400.33484025
161Maturity onset diabetes of the young_Homo sapiens_hsa049500.30483719
162Basal cell carcinoma_Homo sapiens_hsa052170.26911966
163Fatty acid biosynthesis_Homo sapiens_hsa000610.25574095
164Glycerophospholipid metabolism_Homo sapiens_hsa005640.24803340
165Starch and sucrose metabolism_Homo sapiens_hsa005000.23845266

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