ALPL

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





Description: This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1leukocyte migration involved in inflammatory response (GO:0002523)7.16317387
2modulation by organism of defense response of other organism involved in symbiotic interaction (GO:06.86123538
3positive regulation by organism of defense response of other organism involved in symbiotic interact6.86123538
4modulation by symbiont of host immune response (GO:0052553)6.86123538
5positive regulation by symbiont of host defense response (GO:0052509)6.86123538
6modulation by symbiont of host defense response (GO:0052031)6.86123538
7modulation by organism of immune response of other organism involved in symbiotic interaction (GO:006.86123538
8negative regulation of cell killing (GO:0031342)6.50788626
9negative regulation of leukocyte mediated cytotoxicity (GO:0001911)6.50788626
10antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G6.38523449
11leukocyte aggregation (GO:0070486)6.09311720
12detection of other organism (GO:0098543)5.95886346
13detection of bacterium (GO:0016045)5.75179494
14neutrophil activation involved in immune response (GO:0002283)5.66145665
15antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.43039264
16respiratory burst (GO:0045730)5.34358168
17antigen processing and presentation of endogenous antigen (GO:0019883)5.26998484
18detection of external biotic stimulus (GO:0098581)5.11320593
19macrophage activation involved in immune response (GO:0002281)5.11126094
20detection of molecule of bacterial origin (GO:0032490)4.92555458
21positive regulation of gamma-delta T cell activation (GO:0046645)4.82029127
22negative regulation of lymphocyte mediated immunity (GO:0002707)4.68937302
23regulation of posttranscriptional gene silencing (GO:0060147)4.66540526
24regulation of gene silencing by miRNA (GO:0060964)4.66540526
25regulation of gene silencing by RNA (GO:0060966)4.66540526
26antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.66204694
27positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)4.57450766
28detection of biotic stimulus (GO:0009595)4.56183674
29production of molecular mediator involved in inflammatory response (GO:0002532)4.50669843
30negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)4.49714572
31cellular extravasation (GO:0045123)4.46636269
32response to interleukin-15 (GO:0070672)4.44742863
33response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.44177401
34response to host immune response (GO:0052572)4.44177401
35response to peptidoglycan (GO:0032494)4.40806336
36neutrophil activation (GO:0042119)4.39591176
37negative regulation of amyloid precursor protein catabolic process (GO:1902992)4.35227865
38regulation of B cell receptor signaling pathway (GO:0050855)4.32333523
39proline metabolic process (GO:0006560)4.28168530
40anterior/posterior axis specification, embryo (GO:0008595)4.26968339
41aminoglycoside antibiotic metabolic process (GO:0030647)4.25725519
42negative regulation of interleukin-12 production (GO:0032695)4.23510142
43regulation of interferon-beta biosynthetic process (GO:0045357)4.15264327
44negative regulation of phagocytosis (GO:0050765)4.12778478
45negative regulation of leukocyte mediated immunity (GO:0002704)4.05591193
46proline biosynthetic process (GO:0006561)4.04944654
47response to host (GO:0075136)4.03616128
48response to host defenses (GO:0052200)4.03616128
49response to defenses of other organism involved in symbiotic interaction (GO:0052173)4.03616128
50folic acid metabolic process (GO:0046655)3.94412813
51microglial cell activation (GO:0001774)3.88322273
52urate metabolic process (GO:0046415)3.88300476
53granulocyte activation (GO:0036230)3.85912194
54somatic diversification of immune receptors via somatic mutation (GO:0002566)3.84582526
55somatic hypermutation of immunoglobulin genes (GO:0016446)3.84582526
56formation of translation preinitiation complex (GO:0001731)3.83751464
57cellular response to interleukin-15 (GO:0071350)3.82623688
58immunoglobulin mediated immune response (GO:0016064)3.80329497
59determination of adult lifespan (GO:0008340)3.79574477
60positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.77950790
61regulation of T-helper 2 cell differentiation (GO:0045628)3.73533549
62regulation of gamma-delta T cell activation (GO:0046643)3.69435353
63neutrophil mediated immunity (GO:0002446)3.67327455
64myeloid cell activation involved in immune response (GO:0002275)3.65487781
65macrophage activation (GO:0042116)3.65162567
66positive regulation of SMAD protein import into nucleus (GO:0060391)3.64427569
67lysine catabolic process (GO:0006554)3.59845837
68lysine metabolic process (GO:0006553)3.59845837
69cellular response to vitamin D (GO:0071305)3.59514219
70folic acid-containing compound biosynthetic process (GO:0009396)3.57870444
71antigen processing and presentation via MHC class Ib (GO:0002475)3.56260006
72regulation of myeloid leukocyte mediated immunity (GO:0002886)3.54478808
73negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.53813562
74negative regulation of T-helper cell differentiation (GO:0045623)3.53813562
75regulation of mast cell degranulation (GO:0043304)3.52593596
76paraxial mesoderm development (GO:0048339)3.51463598
77negative regulation of immunoglobulin mediated immune response (GO:0002890)3.49052139
78negative regulation of B cell mediated immunity (GO:0002713)3.49052139
79cellular response to type I interferon (GO:0071357)3.42655428
80type I interferon signaling pathway (GO:0060337)3.42655428
81phosphate ion transport (GO:0006817)3.42012109
82negative regulation of androgen receptor signaling pathway (GO:0060766)3.40845500
83nucleobase biosynthetic process (GO:0046112)3.39952532
843-UTR-mediated mRNA stabilization (GO:0070935)3.39269406
85response to interferon-alpha (GO:0035455)3.38104504
86response to type I interferon (GO:0034340)3.38039437
87nuclear pore organization (GO:0006999)3.37090416
88glycine metabolic process (GO:0006544)3.34745712
89leukocyte degranulation (GO:0043299)3.30965923
90notochord development (GO:0030903)3.28622515
91serine family amino acid catabolic process (GO:0009071)3.28340637
92B cell mediated immunity (GO:0019724)3.28188465
93neutrophil chemotaxis (GO:0030593)3.28048538
94regulation of translational fidelity (GO:0006450)3.25055712
95protein localization to kinetochore (GO:0034501)3.24062563
96regulation of leukocyte degranulation (GO:0043300)3.23596857
97positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.21850302
98serine family amino acid metabolic process (GO:0009069)3.21453824
99neutrophil migration (GO:1990266)3.19593565
100negative regulation of toll-like receptor signaling pathway (GO:0034122)3.19239868
101IMP biosynthetic process (GO:0006188)3.19034104
102serine family amino acid biosynthetic process (GO:0009070)3.18519796
103regulation of tolerance induction (GO:0002643)3.17974937
104myeloid leukocyte mediated immunity (GO:0002444)3.17446424
105DNA unwinding involved in DNA replication (GO:0006268)3.17231359
106DNA replication-dependent nucleosome assembly (GO:0006335)3.16794061
107DNA replication-dependent nucleosome organization (GO:0034723)3.16794061
108purine nucleobase biosynthetic process (GO:0009113)3.15064512
109regulation of gamma-delta T cell differentiation (GO:0045586)3.14590485
110regulation of mast cell activation involved in immune response (GO:0033006)3.14467487
111regulation of SMAD protein import into nucleus (GO:0060390)3.14157518
112nuclear pore complex assembly (GO:0051292)3.11891212
113regulation of hippo signaling (GO:0035330)3.11488256
114mitotic nuclear envelope disassembly (GO:0007077)3.11182759
115regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.11105509
116glyoxylate metabolic process (GO:0046487)3.11062881
117establishment of apical/basal cell polarity (GO:0035089)3.10939738
118germinal center formation (GO:0002467)3.10672586
119embryonic process involved in female pregnancy (GO:0060136)3.08782058
120negative regulation of innate immune response (GO:0045824)3.07810429
121heterochromatin organization (GO:0070828)3.07287257
122negative regulation of interleukin-6 production (GO:0032715)3.07242798
123negative regulation of alpha-beta T cell activation (GO:0046636)3.07138332
124positive regulation of Cdc42 GTPase activity (GO:0043089)3.06527687
125DNA replication initiation (GO:0006270)3.04911784
126phosphate ion transmembrane transport (GO:0035435)3.03673544
127drug transmembrane transport (GO:0006855)3.02130313
128folic acid-containing compound metabolic process (GO:0006760)3.01035852
129DNA strand elongation involved in DNA replication (GO:0006271)3.01032780
130transcription from mitochondrial promoter (GO:0006390)3.00085311
131dendritic cell migration (GO:0036336)2.99911018
132regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.99891796
133regulation of helicase activity (GO:0051095)2.99290845
134positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.98973416
135regulation of regulated secretory pathway (GO:1903305)2.96439975
136dendritic cell chemotaxis (GO:0002407)2.96313705
137mitochondrial DNA metabolic process (GO:0032042)2.94023063
138tolerance induction (GO:0002507)2.93431527
139chronic inflammatory response (GO:0002544)2.92134803
140regulation of T cell tolerance induction (GO:0002664)2.90599297
141regulation of B cell differentiation (GO:0045577)2.90303930
142positive regulation of cellular amide metabolic process (GO:0034250)2.90267812
143nuclear envelope disassembly (GO:0051081)2.90219699
144membrane disassembly (GO:0030397)2.90219699
145negative regulation of interleukin-1 production (GO:0032692)2.89753318
146negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)2.89696942
147negative regulation of type 2 immune response (GO:0002829)2.89627214
148negative regulation of cytokine production involved in immune response (GO:0002719)2.89352610
149negative regulation of T cell mediated immunity (GO:0002710)2.88433144
150defense response to protozoan (GO:0042832)2.87999707
151tetrahydrofolate metabolic process (GO:0046653)2.87643750
152cellular response to vitamin (GO:0071295)2.87097375
153negative regulation of adaptive immune response based on somatic recombination of immune receptors b2.87021401
154negative regulation of glycoprotein biosynthetic process (GO:0010561)2.85047327
155DNA replication checkpoint (GO:0000076)2.84183398
156DNA duplex unwinding (GO:0032508)2.83500679
157histone H4-K12 acetylation (GO:0043983)2.82877028
158DNA geometric change (GO:0032392)2.82141532
159positive regulation of mast cell activation (GO:0033005)2.81042333
160positive regulation of tolerance induction (GO:0002645)2.80907735
161DNA strand elongation (GO:0022616)2.80345169
162ribosome biogenesis (GO:0042254)2.78347151
163drug transport (GO:0015893)2.78219610
164cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.78202206
165positive regulation of catenin import into nucleus (GO:0035413)2.73965195
166nodal signaling pathway (GO:0038092)2.73514037
167mitotic metaphase plate congression (GO:0007080)2.72905351
168ribosome assembly (GO:0042255)2.72668980
169cysteine metabolic process (GO:0006534)2.70546417
170aspartate family amino acid catabolic process (GO:0009068)2.69222372
171homocysteine metabolic process (GO:0050667)2.65656241
172IMP metabolic process (GO:0046040)2.64989621
173modified amino acid transport (GO:0072337)2.63755723
174tricarboxylic acid metabolic process (GO:0072350)2.63386883
175cellular modified amino acid catabolic process (GO:0042219)2.62507490
176renal absorption (GO:0070293)2.62181462
177mitotic sister chromatid segregation (GO:0000070)2.62012756
178telomere maintenance via semi-conservative replication (GO:0032201)2.61489464
179keratan sulfate catabolic process (GO:0042340)2.61387832
180histone arginine methylation (GO:0034969)2.59969377
181mitotic G1 DNA damage checkpoint (GO:0031571)2.58527642
182trophectodermal cell differentiation (GO:0001829)2.58020521
183intestinal epithelial cell development (GO:0060576)2.57675296
184quaternary ammonium group transport (GO:0015697)2.57253019
185pteridine-containing compound metabolic process (GO:0042558)2.52141414
186negative regulation of histone methylation (GO:0031061)2.48930679
187bone trabecula formation (GO:0060346)2.48281609
188regulation of sister chromatid cohesion (GO:0007063)2.48274320
189sulfur amino acid catabolic process (GO:0000098)2.48062083
190positive regulation of chromosome segregation (GO:0051984)2.46641704
191establishment of monopolar cell polarity (GO:0061162)2.45504452
192establishment or maintenance of monopolar cell polarity (GO:0061339)2.45504452
193pre-miRNA processing (GO:0031054)2.43724753
194protein localization to chromosome, centromeric region (GO:0071459)2.43611816
195branched-chain amino acid metabolic process (GO:0009081)2.41866653
196organic cation transport (GO:0015695)2.41711970
197regulation of telomere maintenance via telomerase (GO:0032210)2.41206548
198embryonic placenta development (GO:0001892)2.40815773
199negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)2.40660231
200apoptotic process involved in morphogenesis (GO:0060561)2.40036669

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.34548687
2BP1_19119308_ChIP-ChIP_Hs578T_Human3.78357328
3KLF5_18264089_ChIP-ChIP_MESCs_Mouse3.49991050
4KLF4_18264089_ChIP-ChIP_MESCs_Mouse3.49991050
5KLF2_18264089_ChIP-ChIP_MESCs_Mouse3.49991050
6MYC_18555785_ChIP-Seq_MESCs_Mouse3.47125952
7POU5F1_18700969_ChIP-ChIP_MESCs_Mouse3.29388638
8SMAD1_18555785_ChIP-Seq_MESCs_Mouse3.15524444
9IRF8_22096565_ChIP-ChIP_GC-B_Human3.10700727
10IRF8_21731497_ChIP-ChIP_J774_Mouse3.08795297
11NANOG_18700969_ChIP-ChIP_MESCs_Mouse3.04978735
12MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.99584992
13VDR_21846776_ChIP-Seq_THP-1_Human2.88641353
14MYC_19079543_ChIP-ChIP_MESCs_Mouse2.82733255
15FOXM1_23109430_ChIP-Seq_U2OS_Human2.71111969
16NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.69559402
17TCF3_18692474_ChIP-Seq_MEFs_Mouse2.67213454
18EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.64282696
19STAT3_1855785_ChIP-Seq_MESCs_Mouse2.53983900
20NANOG_18555785_ChIP-Seq_MESCs_Mouse2.47024246
21SPI1_23547873_ChIP-Seq_NB4_Human2.45628689
22VDR_24763502_ChIP-Seq_THP-1_Human2.45365148
23* SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.40990586
24IRF8_27001747_Chip-Seq_BMDM_Mouse2.37053631
25SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.33156520
26RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.29434667
27MYC_19030024_ChIP-ChIP_MESCs_Mouse2.28677547
28ZIC3_20872845_ChIP-ChIP_MESCs_Mouse2.28300589
29KDM2B_26808549_Chip-Seq_SUP-B15_Human2.27647959
30STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.27127940
31SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.25701309
32RUNX1_22412390_ChIP-Seq_EML_Mouse2.24579702
33MAF_26560356_Chip-Seq_TH1_Human2.24497848
34MYB_21317192_ChIP-Seq_ERMYB_Mouse2.23099563
35TCF7_22412390_ChIP-Seq_EML_Mouse2.19355516
36NR0B1_18358816_ChIP-ChIP_MESCs_Mouse2.18993270
37NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.18125204
38STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.17719056
39UTX_26944678_Chip-Seq_JUKART_Human2.14346385
40SPI1_23127762_ChIP-Seq_K562_Human2.14123214
41MYC_18358816_ChIP-ChIP_MESCs_Mouse2.14104834
42TCF3_18692474_ChIP-Seq_MESCs_Mouse2.13951436
43E2F4_17652178_ChIP-ChIP_JURKAT_Human2.09270194
44NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.07035934
45THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.06762678
46AR_21909140_ChIP-Seq_LNCAP_Human2.05113959
47BRD4_27068464_Chip-Seq_AML-cells_Mouse2.02324421
48ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.00751443
49POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.99474329
50SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.98515340
51E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.97513237
52KDM2B_26808549_Chip-Seq_DND41_Human1.97061100
53SOX2_18555785_ChIP-Seq_MESCs_Mouse1.92134565
54NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.88343207
55KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.87690637
56ELK3_25401928_ChIP-Seq_HUVEC_Human1.86824681
57KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.86403345
58NELFA_20434984_ChIP-Seq_ESCs_Mouse1.85003352
59FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.84676911
60LXR_22292898_ChIP-Seq_THP-1_Human1.81652520
61IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.80627586
62SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.79209394
63ESR1_15608294_ChIP-ChIP_MCF-7_Human1.78859276
64POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.77334065
65SOX2_18692474_ChIP-Seq_MEFs_Mouse1.76541505
66SALL1_21062744_ChIP-ChIP_HESCs_Human1.73300797
67NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.72530708
68E2F1_18555785_ChIP-Seq_MESCs_Mouse1.70563312
69CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.69980986
70MAF_26560356_Chip-Seq_TH2_Human1.69693784
71NANOG_18692474_ChIP-Seq_MEFs_Mouse1.68672354
72CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.67514914
73STAT6_21828071_ChIP-Seq_BEAS2B_Human1.64990600
74* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.63641051
75POU5F1_16518401_ChIP-PET_MESCs_Mouse1.62944153
76MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.62312611
77STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.61613089
78STAT4_19710469_ChIP-ChIP_TH1__Mouse1.60974383
79OCT4_18692474_ChIP-Seq_MEFs_Mouse1.59200138
80VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.56773265
81MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.56174100
82NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.56007048
83TP63_17297297_ChIP-ChIP_HaCaT_Human1.55612819
84MYB_26560356_Chip-Seq_TH2_Human1.55289225
85RUNX_20019798_ChIP-Seq_JUKART_Human1.54245698
86* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.53891155
87* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.50710884
88MYCN_18555785_ChIP-Seq_MESCs_Mouse1.50493175
89MYB_26560356_Chip-Seq_TH1_Human1.49450091
90TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.48751087
91SOX2_18692474_ChIP-Seq_MESCs_Mouse1.48736976
92KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.47653846
93IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.47292655
94NANOG_21062744_ChIP-ChIP_HESCs_Human1.44921438
95ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.44670413
96NANOG_18692474_ChIP-Seq_MESCs_Mouse1.43341846
97FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.43189689
98SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.42896075
99XRN2_22483619_ChIP-Seq_HELA_Human1.42643114
100GATA1_22383799_ChIP-Seq_G1ME_Mouse1.41670029
101TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.41410231
102HIF1A_21447827_ChIP-Seq_MCF-7_Human1.41039414
103ETS1_20019798_ChIP-Seq_JURKAT_Human1.40950613
104CREB1_15753290_ChIP-ChIP_HEK293T_Human1.39683703
105KLF4_18555785_ChIP-Seq_MESCs_Mouse1.38065003
106FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.37895084
107MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.36779683
108LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.36773791
109JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.35289672
110* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.34512485
111SCL_19346495_ChIP-Seq_HPC-7_Human1.34336687
112FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.34209782
113SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.32961171
114CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.32663489
115* SA1_27219007_Chip-Seq_ERYTHROID_Human1.32183579
116POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.31854495
117EST1_17652178_ChIP-ChIP_JURKAT_Human1.30973302
118KDM2B_26808549_Chip-Seq_JURKAT_Human1.28341949
119PU.1_20513432_ChIP-Seq_Bcells_Mouse1.27508588
120RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.25238919
121KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.24996592
122GATA1_19941827_ChIP-Seq_MEL_Mouse1.24529870
123NANOG_16518401_ChIP-PET_MESCs_Mouse1.23429527
124MYC_22102868_ChIP-Seq_BL_Human1.23344125
125KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.22586666
126BCL6_27268052_Chip-Seq_Bcells_Human1.19332714
127E2F1_21310950_ChIP-Seq_MCF-7_Human1.19113981
128YY1_21170310_ChIP-Seq_MESCs_Mouse1.18446403
129* KDM2B_26808549_Chip-Seq_K562_Human1.18305470
130* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.18094885
131* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.17971778
132BCOR_27268052_Chip-Seq_Bcells_Human1.17737103
133GATA2_22383799_ChIP-Seq_G1ME_Mouse1.17438394
134Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.17324802
135ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.17317415
136TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.14907445
137ZFX_18555785_ChIP-Seq_MESCs_Mouse1.14858561
138ESR1_21235772_ChIP-Seq_MCF-7_Human1.14289957
139NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.14038086
140GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13836647
141ZNF263_19887448_ChIP-Seq_K562_Human1.13658696
142* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.11800647
143PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.09651920
144EGR1_19374776_ChIP-ChIP_THP-1_Human1.09553154
145GATA3_27048872_Chip-Seq_THYMUS_Human1.09406354
146NCOR1_26117541_ChIP-Seq_K562_Human1.09323774
147* P68_20966046_ChIP-Seq_HELA_Human1.09041286
148* RXR_22158963_ChIP-Seq_LIVER_Mouse1.08984300
149* KAP1_27257070_Chip-Seq_ESCs_Mouse1.08183635
150PPARA_22158963_ChIP-Seq_LIVER_Mouse1.07404574
151TRIM28_21343339_ChIP-Seq_HEK293_Human1.07202883
152DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.06421399
153* SMC4_20622854_ChIP-Seq_HELA_Human1.05763892
154FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.03204050
155PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.02225270
156* SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.01592430
157HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.01369774
158ZFP281_18757296_ChIP-ChIP_E14_Mouse1.00996622
159CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.00277654
160* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.99960019
161GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.99942803
162* SA1_27219007_Chip-Seq_Bcells_Human0.99910627
163KDM5A_27292631_Chip-Seq_BREAST_Human0.99272270
164SPI1_20517297_ChIP-Seq_HL60_Human0.98834080
165SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.97915945
166THAP11_20581084_ChIP-Seq_MESCs_Mouse0.96437750
167DCP1A_22483619_ChIP-Seq_HELA_Human0.95595966
168EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.94900117
169VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.94687890
170TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.94600207
171TTF2_22483619_ChIP-Seq_HELA_Human0.93671035
172ATF3_27146783_Chip-Seq_COLON_Human0.93429084
173RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.91942984
174GABP_19822575_ChIP-Seq_HepG2_Human0.91482210
175TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.91447405
176* PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.91198283
177HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.89595136
178POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.89046724
179TFEB_21752829_ChIP-Seq_HELA_Human0.87939224
180SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.86361211
181RARG_19884340_ChIP-ChIP_MEFs_Mouse0.86292554
182SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.84084831
183RACK7_27058665_Chip-Seq_MCF-7_Human0.84029998

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003724_increased_susceptibility_to5.84336361
2MP0003436_decreased_susceptibility_to4.08865801
3MP0003303_peritoneal_inflammation3.68032325
4MP0003806_abnormal_nucleotide_metabolis3.52136761
5MP0002419_abnormal_innate_immunity3.16757667
6MP0004185_abnormal_adipocyte_glucose2.77248633
7MP0004957_abnormal_blastocyst_morpholog2.76431536
8MP0002254_reproductive_system_inflammat2.76277473
9MP0001835_abnormal_antigen_presentation2.65370433
10MP0005025_abnormal_response_to2.65369297
11MP0002132_abnormal_respiratory_system2.63738260
12MP0008260_abnormal_autophagy2.60812419
13MP0008057_abnormal_DNA_replication2.59728831
14MP0009785_altered_susceptibility_to2.53454704
15MP0003191_abnormal_cellular_cholesterol2.48247546
16MP0001790_abnormal_immune_system2.47538645
17MP0005387_immune_system_phenotype2.47538645
18MP0005360_urolithiasis2.46752552
19MP0003705_abnormal_hypodermis_morpholog2.33270319
20MP0001533_abnormal_skeleton_physiology2.30850525
21MP0003283_abnormal_digestive_organ2.29685468
22MP0002277_abnormal_respiratory_mucosa2.29467752
23MP0005000_abnormal_immune_tolerance2.28925338
24MP0003111_abnormal_nucleus_morphology2.27722217
25MP0010352_gastrointestinal_tract_polyps2.26319152
26MP0001800_abnormal_humoral_immune2.26171748
27MP0000685_abnormal_immune_system2.24292330
28MP0002653_abnormal_ependyma_morphology2.23984391
29MP0004019_abnormal_vitamin_homeostasis2.23066204
30MP0004133_heterotaxia2.22607810
31MP0002420_abnormal_adaptive_immunity2.18930865
32MP0001819_abnormal_immune_cell2.18415398
33MP0010094_abnormal_chromosome_stability2.16469992
34MP0002723_abnormal_immune_serum2.14627803
35MP0010030_abnormal_orbit_morphology2.13662093
36MP0002405_respiratory_system_inflammati2.10595296
37MP0003693_abnormal_embryo_hatching2.06588128
38MP0002452_abnormal_antigen_presenting2.06202633
39MP0005671_abnormal_response_to2.00780427
40MP0003646_muscle_fatigue2.00518792
41MP0006082_CNS_inflammation1.96263594
42MP0004858_abnormal_nervous_system1.94747539
43MP0005397_hematopoietic_system_phenotyp1.93738672
44MP0001545_abnormal_hematopoietic_system1.93738672
45MP0005332_abnormal_amino_acid1.92720575
46MP0005666_abnormal_adipose_tissue1.91282630
47* MP0001542_abnormal_bone_strength1.86547554
48MP0005503_abnormal_tendon_morphology1.86118761
49MP0002396_abnormal_hematopoietic_system1.84727696
50MP0004043_abnormal_pH_regulation1.82473857
51MP0003077_abnormal_cell_cycle1.79007726
52MP0003300_gastrointestinal_ulcer1.71987853
53MP0003828_pulmonary_edema1.67537415
54MP0003566_abnormal_cell_adhesion1.64656724
55MP0002398_abnormal_bone_marrow1.64201446
56MP0002148_abnormal_hypersensitivity_rea1.60844346
57* MP0000716_abnormal_immune_system1.58317413
58MP0001730_embryonic_growth_arrest1.57453994
59MP0008438_abnormal_cutaneous_collagen1.53428415
60MP0001851_eye_inflammation1.52926906
61MP0001293_anophthalmia1.51931695
62MP0004883_abnormal_blood_vessel1.51612524
63MP0005464_abnormal_platelet_physiology1.51455558
64MP0000858_altered_metastatic_potential1.50837823
65MP0003011_delayed_dark_adaptation1.49562459
66MP0001845_abnormal_inflammatory_respons1.48846956
67MP0003183_abnormal_peptide_metabolism1.47774276
68MP0001672_abnormal_embryogenesis/_devel1.46188755
69MP0005380_embryogenesis_phenotype1.46188755
70MP0000350_abnormal_cell_proliferation1.45055087
71MP0010155_abnormal_intestine_physiology1.44655114
72MP0008058_abnormal_DNA_repair1.41928479
73* MP0002722_abnormal_immune_system1.41782741
74MP0002139_abnormal_hepatobiliary_system1.41739779
75MP0002084_abnormal_developmental_patter1.40706125
76MP0004197_abnormal_fetal_growth/weight/1.40183965
77MP0002085_abnormal_embryonic_tissue1.39030549
78* MP0000689_abnormal_spleen_morphology1.37047903
79MP0009333_abnormal_splenocyte_physiolog1.35875265
80MP0003075_altered_response_to1.34974396
81MP0005275_abnormal_skin_tensile1.34628509
82MP0004947_skin_inflammation1.34598244
83* MP0002896_abnormal_bone_mineralization1.34498758
84MP0003878_abnormal_ear_physiology1.33692821
85MP0005377_hearing/vestibular/ear_phenot1.33692821
86MP0003984_embryonic_growth_retardation1.33465396
87MP0005023_abnormal_wound_healing1.33110249
88MP0001697_abnormal_embryo_size1.32933966
89MP0002282_abnormal_trachea_morphology1.32299224
90MP0004233_abnormal_muscle_weight1.32154335
91MP0002086_abnormal_extraembryonic_tissu1.32066941
92MP0008932_abnormal_embryonic_tissue1.31707776
93MP0002088_abnormal_embryonic_growth/wei1.31398622
94MP0009643_abnormal_urine_homeostasis1.31221330
95MP0000762_abnormal_tongue_morphology1.30399284
96* MP0000703_abnormal_thymus_morphology1.30103741
97* MP0002429_abnormal_blood_cell1.28708170
98MP0005076_abnormal_cell_differentiation1.28068753
99MP0000465_gastrointestinal_hemorrhage1.27949991
100MP0004264_abnormal_extraembryonic_tissu1.27476918
101MP0000490_abnormal_crypts_of1.26809745
102* MP0000432_abnormal_head_morphology1.24118295
103* MP0008469_abnormal_protein_level1.23917012
104MP0001849_ear_inflammation1.23846124
105MP0003890_abnormal_embryonic-extraembry1.22334796
106* MP0000163_abnormal_cartilage_morphology1.20031551
107MP0003195_calcinosis1.18844249
108MP0003119_abnormal_digestive_system1.18411054
109MP0003763_abnormal_thymus_physiology1.17116207
110MP0005390_skeleton_phenotype1.16320404
111MP0003123_paternal_imprinting1.15950132
112MP0004272_abnormal_basement_membrane1.14810283
113MP0003935_abnormal_craniofacial_develop1.14289101
114MP0010307_abnormal_tumor_latency1.13899717
115MP0003866_abnormal_defecation1.13823754
116* MP0002115_abnormal_skeleton_extremities1.13178927
117MP0003786_premature_aging1.11362309
118MP0003186_abnormal_redox_activity1.08735119
119MP0003690_abnormal_glial_cell1.07056412
120MP0003718_maternal_effect1.06911862
121MP0005266_abnormal_metabolism1.05962454
122MP0002080_prenatal_lethality1.05704706
123MP0005164_abnormal_response_to1.05144607
124MP0003941_abnormal_skin_development1.04660667
125MP0009764_decreased_sensitivity_to1.04624572
126MP0005508_abnormal_skeleton_morphology1.04278888
127MP0002111_abnormal_tail_morphology1.03272950
128MP0008007_abnormal_cellular_replicative1.02979037
129MP0004808_abnormal_hematopoietic_stem0.99668242
130MP0005670_abnormal_white_adipose0.99472899
131* MP0002998_abnormal_bone_remodeling0.99459444
132MP0002089_abnormal_postnatal_growth/wei0.99249041
133MP0005388_respiratory_system_phenotype0.98064471
134MP0002133_abnormal_respiratory_system0.98064471
135MP0002136_abnormal_kidney_physiology0.97714163
136MP0001756_abnormal_urination0.96895562
137MP0005375_adipose_tissue_phenotype0.96191684
138MP0005083_abnormal_biliary_tract0.96027361
139MP0009250_abnormal_appendicular_skeleto0.95048245
140MP0004510_myositis0.94569255
141MP0004782_abnormal_surfactant_physiolog0.93801402
142MP0009278_abnormal_bone_marrow0.93693584
143MP0001958_emphysema0.92117615
144MP0000750_abnormal_muscle_regeneration0.91815355
145MP0000751_myopathy0.90922968
146MP0002269_muscular_atrophy0.89935617
147MP0006072_abnormal_retinal_apoptosis0.86734025
148* MP0002108_abnormal_muscle_morphology0.85965731
149MP0005451_abnormal_body_composition0.85811372
150MP0003567_abnormal_fetal_cardiomyocyte0.85484717
151MP0004381_abnormal_hair_follicle0.85217172
152MP0003448_altered_tumor_morphology0.85049156
153MP0002249_abnormal_larynx_morphology0.84531554
154MP0005395_other_phenotype0.83720233
155MP0005085_abnormal_gallbladder_physiolo0.82921965
156MP0003279_aneurysm0.81420378
157MP0002109_abnormal_limb_morphology0.81064722
158MP0005248_abnormal_Harderian_gland0.80524737
159* MP0002113_abnormal_skeleton_development0.79542851
160MP0000428_abnormal_craniofacial_morphol0.78570772
161MP0004084_abnormal_cardiac_muscle0.78542360
162* MP0002116_abnormal_craniofacial_bone0.78053976
163MP0002332_abnormal_exercise_endurance0.77901328
164MP0008004_abnormal_stomach_pH0.77623380
165MP0005310_abnormal_salivary_gland0.77300604
166MP0004134_abnormal_chest_morphology0.76781227
167MP0003755_abnormal_palate_morphology0.76462258
168MP0009053_abnormal_anal_canal0.76103713
169MP0001663_abnormal_digestive_system0.75619333
170MP0000343_altered_response_to0.73969369
171MP0001853_heart_inflammation0.72699968
172MP0002697_abnormal_eye_size0.72617012
173MP0000537_abnormal_urethra_morphology0.72410625
174MP0009763_increased_sensitivity_to0.71827107
175MP0009672_abnormal_birth_weight0.65634400
176MP0005166_decreased_susceptibility_to0.64493935
177MP0003172_abnormal_lysosome_physiology0.62795092
178MP0003329_amyloid_beta_deposits0.59250334
179MP0002933_joint_inflammation0.58129214
180MP0000678_abnormal_parathyroid_gland0.57941982
181MP0001986_abnormal_taste_sensitivity0.56896983
182MP0009765_abnormal_xenobiotic_induced0.56158556
183MP0001175_abnormal_lung_morphology0.54658249
184MP0008874_decreased_physiological_sensi0.54213191
185* MP0003795_abnormal_bone_structure0.52594125
186MP0000313_abnormal_cell_death0.51591460
187* MP0005319_abnormal_enzyme/_coenzyme0.51554964
188MP0005381_digestive/alimentary_phenotyp0.49551646

Predicted human phenotypes

RankGene SetZ-score
1Eczematoid dermatitis (HP:0000976)7.36360998
2Recurrent abscess formation (HP:0002722)6.44598691
3Myositis (HP:0100614)6.26862202
4Orchitis (HP:0100796)5.96679815
5Recurrent gram-negative bacterial infections (HP:0005420)5.92575648
6Recurrent bacterial skin infections (HP:0005406)5.73115959
7* Metaphyseal cupping (HP:0003021)5.56603083
8Abnormality of macrophages (HP:0004311)5.45562789
9Hypochromic microcytic anemia (HP:0004840)5.35736746
10Optic neuritis (HP:0100653)5.11975503
11Retrobulbar optic neuritis (HP:0100654)5.11975503
12Stomatitis (HP:0010280)4.72325106
13Small epiphyses (HP:0010585)4.72207082
14Elevated erythrocyte sedimentation rate (HP:0003565)4.46973460
15Chronic obstructive pulmonary disease (HP:0006510)4.30606826
16Obstructive lung disease (HP:0006536)4.30606826
17Delayed epiphyseal ossification (HP:0002663)4.25453363
18Hypochromic anemia (HP:0001931)4.15576437
19Mediastinal lymphadenopathy (HP:0100721)4.01369799
20Spontaneous hematomas (HP:0007420)3.96249240
21Gastrointestinal infarctions (HP:0005244)3.94576194
22Gingivitis (HP:0000230)3.83897077
23Carpal bone hypoplasia (HP:0001498)3.82379121
24Irregular epiphyses (HP:0010582)3.81843646
25Keratoconjunctivitis sicca (HP:0001097)3.79088474
26Meningitis (HP:0001287)3.78560060
27Epiphyseal dysplasia (HP:0002656)3.73791243
28Vitreoretinal degeneration (HP:0000655)3.71163033
29Urticaria (HP:0001025)3.65934440
30Peritonitis (HP:0002586)3.63729322
31Increased IgE level (HP:0003212)3.63648753
32Hypoplastic ischia (HP:0003175)3.62768255
33Abnormal delayed hypersensitivity skin test (HP:0002963)3.54653465
34Cellulitis (HP:0100658)3.50071463
35Episodic fever (HP:0001954)3.46533159
36Encephalitis (HP:0002383)3.43499629
37Keratoconjunctivitis (HP:0001096)3.43352596
38Ulnar bowing (HP:0003031)3.43341820
39Abnormal tarsal ossification (HP:0008369)3.41508948
40Recurrent skin infections (HP:0001581)3.40571116
41Mild short stature (HP:0003502)3.38010630
42Hyperglycinuria (HP:0003108)3.37560744
43Recurrent fungal infections (HP:0002841)3.30597314
44Abnormality of the ischium (HP:0003174)3.25470543
45Ependymoma (HP:0002888)3.18503442
46Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.16146980
47Gout (HP:0001997)3.15318081
48Aplasia/Hypoplasia of the pubic bone (HP:0009104)3.13871492
49Cupped ribs (HP:0000887)3.02092111
50Prolonged bleeding time (HP:0003010)2.98037048
51Protrusio acetabuli (HP:0003179)2.97166605
52Neonatal short-limb short stature (HP:0008921)2.96032379
53Increased circulating renin level (HP:0000848)2.94203989
54Amelogenesis imperfecta (HP:0000705)2.92778954
55Chest pain (HP:0100749)2.89059298
56Genu varum (HP:0002970)2.85981932
57Vasculitis (HP:0002633)2.85142733
58Microcytic anemia (HP:0001935)2.81911809
59Amyloidosis (HP:0011034)2.77220852
60Metaphyseal dysplasia (HP:0100255)2.75481992
61Irregular vertebral endplates (HP:0003301)2.71241256
62Nasal polyposis (HP:0100582)2.63760485
63Recurrent cutaneous fungal infections (HP:0011370)2.61989148
64Chronic mucocutaneous candidiasis (HP:0002728)2.61989148
65Pulmonary embolism (HP:0002204)2.60340146
66Difficulty running (HP:0009046)2.56578007
67Arterial thrombosis (HP:0004420)2.55603862
68Flat capital femoral epiphysis (HP:0003370)2.54791152
69Abnormality of glycine metabolism (HP:0010895)2.53933034
70Abnormality of serine family amino acid metabolism (HP:0010894)2.53933034
71Abnormality of the peritoneum (HP:0002585)2.53798588
72Abnormality of the vertebral endplates (HP:0005106)2.53337817
73Hypokalemic alkalosis (HP:0001949)2.52165716
74Increased IgM level (HP:0003496)2.50001699
75Polyuria (HP:0000103)2.49215180
76Flat acetabular roof (HP:0003180)2.48562912
77Flattened epiphyses (HP:0003071)2.48437497
78Lymphopenia (HP:0001888)2.47274582
79Hemoptysis (HP:0002105)2.46846555
80Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.45884889
81Renal salt wasting (HP:0000127)2.45800010
82Increased purine levels (HP:0004368)2.44491796
83Hyperuricemia (HP:0002149)2.44491796
84Abnormality of glutamine family amino acid metabolism (HP:0010902)2.43528798
85Osteomyelitis (HP:0002754)2.43524918
86Muscle fiber splitting (HP:0003555)2.43423036
87Gastrointestinal inflammation (HP:0004386)2.41880333
88Inflammation of the large intestine (HP:0002037)2.37390096
89Leukocytosis (HP:0001974)2.36141347
90Rhabdomyosarcoma (HP:0002859)2.34325329
91Hip contracture (HP:0003273)2.33780167
92Abnormality of the astrocytes (HP:0100707)2.33764706
93Astrocytoma (HP:0009592)2.33764706
94Gingival bleeding (HP:0000225)2.33415761
95Abnormality of cells of the lymphoid lineage (HP:0012140)2.32587415
96Abnormality of the nasal mucosa (HP:0000433)2.32464509
97Selective tooth agenesis (HP:0001592)2.31047199
98Abnormal urine output (HP:0012590)2.31027402
99Abnormal foot bone ossification (HP:0010675)2.29645725
100Chronic otitis media (HP:0000389)2.28329946
101Hyperactive renin-angiotensin system (HP:0000841)2.27696881
102* Anorexia (HP:0002039)2.27210552
103Abnormality of the labia minora (HP:0012880)2.25578301
104Recurrent sinusitis (HP:0011108)2.25245210
105Hepatosplenomegaly (HP:0001433)2.25058145
106Aplasia/hypoplasia of the humerus (HP:0006507)2.25021133
107Proximal tubulopathy (HP:0000114)2.24968439
108Neoplasm of striated muscle (HP:0009728)2.24293779
109Epistaxis (HP:0000421)2.23333833
110Chronic bronchitis (HP:0004469)2.21783685
111Abnormal platelet volume (HP:0011876)2.20703745
112Segmental peripheral demyelination/remyelination (HP:0003481)2.19943422
113Short humerus (HP:0005792)2.19006009
114Pulmonary infiltrates (HP:0002113)2.18507453
115Multiple enchondromatosis (HP:0005701)2.17857291
116Medulloblastoma (HP:0002885)2.16076877
117Petechiae (HP:0000967)2.15296292
118Neoplasm of the oral cavity (HP:0100649)2.14552087
119IgM deficiency (HP:0002850)2.14221580
120Abnormal cartilage morphology (HP:0002763)2.14184570
121Sepsis (HP:0100806)2.13996750
122Hypomagnesemia (HP:0002917)2.13828027
123* Platyspondyly (HP:0000926)2.13625549
124Coxa vara (HP:0002812)2.12982167
125Cervical subluxation (HP:0003308)2.11700986
126Shawl scrotum (HP:0000049)2.11407180
127Abnormal ossification of hand bones (HP:0005921)2.10545382
128T lymphocytopenia (HP:0005403)2.10488532
129Glioma (HP:0009733)2.10024072
130Abnormality of carpal bone ossification (HP:0006257)2.09897493
131Abnormality of renal excretion (HP:0011036)2.09598566
132Increased connective tissue (HP:0009025)2.08017672
133Hyperglycinemia (HP:0002154)2.06498011
134Breast hypoplasia (HP:0003187)2.04932082
135Metaphyseal irregularity (HP:0003025)2.03774562
136Abnormality of the pleura (HP:0002103)2.02733348
137Rib fusion (HP:0000902)1.99174951
138Osteoarthritis (HP:0002758)1.98213000
139Limited hip movement (HP:0008800)1.97691241
140Hand muscle atrophy (HP:0009130)1.97390039
141Abnormality of proline metabolism (HP:0010907)1.96786865
142Hydroxyprolinuria (HP:0003080)1.96786865
143Recurrent lower respiratory tract infections (HP:0002783)1.96509434
144Abnormal hand bone ossification (HP:0010660)1.96418873
145Metabolic alkalosis (HP:0200114)1.96199933
146Choanal stenosis (HP:0000452)1.95949556
147Genu recurvatum (HP:0002816)1.95873253
148Glomerulopathy (HP:0100820)1.94687561
149Abnormality of femoral epiphyses (HP:0006499)1.94276460
150Abnormality involving the epiphyses of the lower limbs (HP:0006500)1.94276460
151Purpura (HP:0000979)1.94007866
152Toxemia of pregnancy (HP:0100603)1.93799263
153Breech presentation (HP:0001623)1.93767582
154Abnormality of the proximal phalanges of the hand (HP:0009834)1.93582318
155Abnormal hemoglobin (HP:0011902)1.93385914
156Abnormality of the pericardium (HP:0001697)1.93292366
157Recurrent pneumonia (HP:0006532)1.92720729
158Acne (HP:0001061)1.92717081
159Abnormality of T cell number (HP:0011839)1.92602855
160Polygenic inheritance (HP:0010982)1.92093538
161Tibial bowing (HP:0002982)1.91521227
162Abnormal number of incisors (HP:0011064)1.91285581
163Abnormality of the pubic bones (HP:0003172)1.91081103
164Abnormality of chloride homeostasis (HP:0011422)1.90796454
165Abnormality of the salivary glands (HP:0010286)1.90454493
166Interstitial pulmonary disease (HP:0006530)1.90389294
167Skin ulcer (HP:0200042)1.89772996
168Spinal muscular atrophy (HP:0007269)1.89289156
169Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.88621475
170Rhizomelia (HP:0008905)1.87918255
171Abnormality of the heme biosynthetic pathway (HP:0010472)1.87892178
172Polycythemia (HP:0001901)1.87762358
173Bowing of the arm (HP:0006488)1.87572844
174Bowed forearm bones (HP:0003956)1.87572844
175Hypergammaglobulinemia (HP:0010702)1.87372870
176Rectovaginal fistula (HP:0000143)1.87272184
177Rectal fistula (HP:0100590)1.87272184
178Absent epiphyses (HP:0010577)1.86141121
179Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.86141121
180Vertebral hypoplasia (HP:0008417)1.85567301
181Aplasia/Hypoplasia of the vertebrae (HP:0008515)1.85567301
182Biconcave vertebral bodies (HP:0004586)1.85417113
183Premature rupture of membranes (HP:0001788)1.85023422
184Flared metaphyses (HP:0003015)1.84756992
185Absent radius (HP:0003974)1.83913911
186Slow saccadic eye movements (HP:0000514)1.83722489
187Malnutrition (HP:0004395)1.83597288
188Hypermelanotic macule (HP:0001034)1.82896292
189Enlarged epiphyses (HP:0010580)1.80337755
190Systemic lupus erythematosus (HP:0002725)1.79671702
191Gangrene (HP:0100758)1.79645791
192Thrombophlebitis (HP:0004418)1.75976231
193Increased serum ferritin (HP:0003281)1.75646488
194Abnormality of T cells (HP:0002843)1.75297039
195Amaurosis fugax (HP:0100576)1.74434456
196Panhypogammaglobulinemia (HP:0003139)1.74243789
197Pustule (HP:0200039)1.73488638
198Vaginal fistula (HP:0004320)1.73290128
199Absent/shortened dynein arms (HP:0200106)1.71413132
200Dynein arm defect of respiratory motile cilia (HP:0012255)1.71413132

Predicted kinase interactions (KEA)

RankGene SetZ-score
1RIPK44.43718260
2DDR23.82020378
3EPHA23.55575271
4NEK13.45092793
5MAP2K33.33511552
6CDK123.26043212
7IRAK43.19881426
8MAP4K13.04006090
9EPHB12.99601995
10WNK42.98150948
11CSK2.91591261
12STK38L2.85522260
13TNK22.82351181
14WEE12.67419597
15TTK2.53608089
16CDK192.49855412
17WNK32.49111907
18SMG12.44044342
19FES2.43258845
20TYK22.37839091
21TAOK12.35055570
22BLK2.25257965
23BCKDK2.19843262
24BUB12.07596163
25CDC72.04964145
26FGR1.98448017
27ICK1.88803253
28RPS6KB21.85114366
29ZAP701.83487926
30AKT31.82616600
31OXSR11.75723556
32CDK71.74540124
33HCK1.71885280
34NEK21.70365366
35BTK1.65776627
36JAK31.62755977
37PDK21.61520450
38MARK21.54637527
39PTK61.49089308
40PDK41.46955221
41PDK31.46955221
42KSR21.46587901
43PLK11.46353897
44LATS11.43064489
45PAK41.40920642
46YES11.40128043
47MAP3K31.36442013
48PRPF4B1.35136261
49MAP3K11.32985444
50LATS21.29807982
51JAK21.29183444
52MAP3K101.27563815
53TSSK61.22675450
54PRKD21.22287545
55CHEK21.18166972
56FGFR41.15892124
57LYN1.14401436
58BMX1.13983070
59MAPKAPK31.12625456
60EIF2AK11.10099878
61MTOR1.06611500
62CDK41.06300555
63STK101.05988615
64PDGFRA1.04720177
65SIK31.03491014
66SIK10.98634528
67ERN10.97289714
68PBK0.97159982
69TGFBR20.97124292
70ATR0.97048186
71MAP3K80.95600368
72PRKCI0.95264877
73PINK10.94895572
74MAP3K70.94669876
75AURKA0.93683086
76PIM10.93608497
77MET0.93175857
78STK110.91800070
79MAP3K110.91660620
80TYRO30.91643651
81CHEK10.88906111
82LCK0.88747452
83STK30.88543093
84SYK0.84719021
85NLK0.84304086
86AURKB0.84083218
87TRIB30.81650790
88CDK60.80700582
89ACVR1B0.79676644
90TAOK20.78850895
91EEF2K0.78335215
92MAP2K40.78252703
93MARK30.77937464
94IKBKE0.76201165
95STK380.72996171
96TXK0.72814633
97ALK0.72805655
98STK40.72656261
99KIT0.72430848
100NME20.72215177
101EIF2AK30.71732468
102FYN0.71472003
103MAP3K130.71241150
104GRK60.71185866
105DYRK30.70933960
106STK390.70931604
107CDK20.70015660
108AKT20.69199952
109MATK0.69173752
110CDC42BPA0.68582092
111TGFBR10.68322560
112PLK30.66346129
113TESK20.66001901
114PASK0.65770516
115GSK3A0.65154395
116PTK2B0.65122105
117RPS6KC10.62886677
118RPS6KL10.62886677
119TBK10.62637568
120PDPK10.62531686
121PKN20.61661888
122PNCK0.61592635
123IRAK10.60357021
124DYRK1B0.59388744
125MAPK70.58524908
126LRRK20.58391494
127FGFR10.58154492
128CSF1R0.58106899
129SCYL20.57320783
130BRD40.55719964
131PRKCZ0.54189634
132PDK10.54000779
133TTN0.53690852
134SRPK10.53164630
135GRK10.52316599
136MAPK110.51422536
137ITK0.51315418
138MAP3K50.49282218
139ATM0.49096368
140RPS6KA10.49069109
141FLT30.49018558
142CSNK1E0.48876435
143PRKAA10.48329655
144RPS6KA60.48119632
145MAPKAPK20.47812022
146JAK10.47518094
147MAP2K20.46426974
148PIM20.46259827
149DYRK20.44645308
150RIPK10.43927545
151CSNK2A20.43102964
152CDK10.42966008
153PRKG20.42965714
154MELK0.42740705
155PAK10.42576747
156TEC0.40640845
157DAPK20.39658746
158MST40.39538073
159MAP3K60.38664090
160PRKCD0.38164278
161IRAK20.37569539
162RPS6KA20.37001032
163RAF10.36498343
164MOS0.35462330
165PLK40.35301873
166STK240.34428729
167MAP3K20.34169094
168CSNK2A10.33874497
169WNK10.33741556
170KDR0.32941247
171MAPK120.32845800
172SGK30.32244178
173EPHA30.31624742
174DMPK0.31227291
175BRAF0.28851682
176PRKD10.26963668

Predicted pathways (KEGG)

RankGene SetZ-score
1Osteoclast differentiation_Homo sapiens_hsa043803.49539352
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.46343948
3Staphylococcus aureus infection_Homo sapiens_hsa051503.44050573
4Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.15005292
5Leishmaniasis_Homo sapiens_hsa051403.07009463
6Mismatch repair_Homo sapiens_hsa034302.98734750
7DNA replication_Homo sapiens_hsa030302.78647126
8Cyanoamino acid metabolism_Homo sapiens_hsa004602.75878622
9One carbon pool by folate_Homo sapiens_hsa006702.75282156
10Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046662.58886891
11Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.46371555
12Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.39122502
13Malaria_Homo sapiens_hsa051442.35761568
14Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.32341298
15Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.21335475
16Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.16823456
17Biosynthesis of amino acids_Homo sapiens_hsa012302.14144048
18Leukocyte transendothelial migration_Homo sapiens_hsa046702.07383137
19Tuberculosis_Homo sapiens_hsa051522.05317426
20B cell receptor signaling pathway_Homo sapiens_hsa046622.04266067
21Acute myeloid leukemia_Homo sapiens_hsa052212.03074928
22Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.01020295
23Base excision repair_Homo sapiens_hsa034101.97824610
24Chemokine signaling pathway_Homo sapiens_hsa040621.93591649
25RNA transport_Homo sapiens_hsa030131.93266769
26Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.92780989
27Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.90899048
28Pentose and glucuronate interconversions_Homo sapiens_hsa000401.86780006
29Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.86496926
30Carbon metabolism_Homo sapiens_hsa012001.82034243
31Toll-like receptor signaling pathway_Homo sapiens_hsa046201.73516024
32African trypanosomiasis_Homo sapiens_hsa051431.66860856
33NOD-like receptor signaling pathway_Homo sapiens_hsa046211.63983412
34Propanoate metabolism_Homo sapiens_hsa006401.62009625
35Legionellosis_Homo sapiens_hsa051341.61368598
36Selenocompound metabolism_Homo sapiens_hsa004501.61207487
37Graft-versus-host disease_Homo sapiens_hsa053321.59589141
38Fructose and mannose metabolism_Homo sapiens_hsa000511.57899151
39Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.56660953
40Arginine and proline metabolism_Homo sapiens_hsa003301.55461041
41Measles_Homo sapiens_hsa051621.54531738
42Primary immunodeficiency_Homo sapiens_hsa053401.54043911
43Viral myocarditis_Homo sapiens_hsa054161.53547048
44Spliceosome_Homo sapiens_hsa030401.53163888
45Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.52274286
46Hematopoietic cell lineage_Homo sapiens_hsa046401.51382668
47Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.50683103
48Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.48552426
49Pyruvate metabolism_Homo sapiens_hsa006201.48442737
50Allograft rejection_Homo sapiens_hsa053301.47941897
51ECM-receptor interaction_Homo sapiens_hsa045121.47758436
52Cysteine and methionine metabolism_Homo sapiens_hsa002701.46899775
53Phototransduction_Homo sapiens_hsa047441.46829673
54Protein digestion and absorption_Homo sapiens_hsa049741.46332391
55Phagosome_Homo sapiens_hsa041451.46134945
56Glutathione metabolism_Homo sapiens_hsa004801.45292191
57Nucleotide excision repair_Homo sapiens_hsa034201.41288672
58Lysine degradation_Homo sapiens_hsa003101.40956225
59Butanoate metabolism_Homo sapiens_hsa006501.40718551
60Autoimmune thyroid disease_Homo sapiens_hsa053201.38914685
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.38486529
62Herpes simplex infection_Homo sapiens_hsa051681.32482818
63Homologous recombination_Homo sapiens_hsa034401.32337856
64Cell cycle_Homo sapiens_hsa041101.32024897
65Fatty acid degradation_Homo sapiens_hsa000711.32009433
66Arginine biosynthesis_Homo sapiens_hsa002201.30166335
67NF-kappa B signaling pathway_Homo sapiens_hsa040641.28253218
68Antigen processing and presentation_Homo sapiens_hsa046121.26246808
69Influenza A_Homo sapiens_hsa051641.25779099
70Tryptophan metabolism_Homo sapiens_hsa003801.23014326
71Hepatitis C_Homo sapiens_hsa051601.21580604
72Jak-STAT signaling pathway_Homo sapiens_hsa046301.20583791
73Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.19363164
74Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.19069823
75Toxoplasmosis_Homo sapiens_hsa051451.19045403
76Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.17318672
77Ribosome_Homo sapiens_hsa030101.11470488
78Hedgehog signaling pathway_Homo sapiens_hsa043401.09071849
79Basal cell carcinoma_Homo sapiens_hsa052171.08495239
80T cell receptor signaling pathway_Homo sapiens_hsa046601.08327261
81Nitrogen metabolism_Homo sapiens_hsa009101.07787558
82Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.07626493
83Drug metabolism - other enzymes_Homo sapiens_hsa009831.06605398
84Shigellosis_Homo sapiens_hsa051311.06380174
85Chronic myeloid leukemia_Homo sapiens_hsa052201.03310420
86TNF signaling pathway_Homo sapiens_hsa046681.03278024
87Fatty acid metabolism_Homo sapiens_hsa012121.03148534
88RNA polymerase_Homo sapiens_hsa030201.01789000
89Salmonella infection_Homo sapiens_hsa051321.01580907
90Proteasome_Homo sapiens_hsa030501.00389069
91Apoptosis_Homo sapiens_hsa042100.98371074
92Fanconi anemia pathway_Homo sapiens_hsa034600.97511075
93Vitamin digestion and absorption_Homo sapiens_hsa049770.97174289
94Endocytosis_Homo sapiens_hsa041440.96411814
95Pyrimidine metabolism_Homo sapiens_hsa002400.96331232
96Pentose phosphate pathway_Homo sapiens_hsa000300.96155553
97Hippo signaling pathway_Homo sapiens_hsa043900.95954770
98Rap1 signaling pathway_Homo sapiens_hsa040150.93845318
99Peroxisome_Homo sapiens_hsa041460.93789594
100Platelet activation_Homo sapiens_hsa046110.93634138
101Non-small cell lung cancer_Homo sapiens_hsa052230.93363217
102Hepatitis B_Homo sapiens_hsa051610.92420199
103Pertussis_Homo sapiens_hsa051330.92059983
104Pancreatic cancer_Homo sapiens_hsa052120.91986647
105Colorectal cancer_Homo sapiens_hsa052100.91843786
106RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.91447170
107Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.90280018
108Type I diabetes mellitus_Homo sapiens_hsa049400.88603188
109beta-Alanine metabolism_Homo sapiens_hsa004100.87966255
110mRNA surveillance pathway_Homo sapiens_hsa030150.87816651
111Galactose metabolism_Homo sapiens_hsa000520.87257144
112Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.87159211
113Amoebiasis_Homo sapiens_hsa051460.84658416
114Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.83318196
115Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.82171471
116p53 signaling pathway_Homo sapiens_hsa041150.82043172
117VEGF signaling pathway_Homo sapiens_hsa043700.81731658
118Phospholipase D signaling pathway_Homo sapiens_hsa040720.81125541
119Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.80936375
120Endometrial cancer_Homo sapiens_hsa052130.77564750
121Thyroid cancer_Homo sapiens_hsa052160.75846277
122Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.74001685
123TGF-beta signaling pathway_Homo sapiens_hsa043500.73989022
124Renal cell carcinoma_Homo sapiens_hsa052110.73319670
125Choline metabolism in cancer_Homo sapiens_hsa052310.72297463
126Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.71085853
127Sphingolipid signaling pathway_Homo sapiens_hsa040710.71062647
128Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.70902936
129Glycerophospholipid metabolism_Homo sapiens_hsa005640.70376490
130Viral carcinogenesis_Homo sapiens_hsa052030.68140025
131Sulfur relay system_Homo sapiens_hsa041220.68101999
132HTLV-I infection_Homo sapiens_hsa051660.66912356
133Phenylalanine metabolism_Homo sapiens_hsa003600.65477907
134Non-homologous end-joining_Homo sapiens_hsa034500.65435576
135Adipocytokine signaling pathway_Homo sapiens_hsa049200.65313926
136Carbohydrate digestion and absorption_Homo sapiens_hsa049730.64003568
137Starch and sucrose metabolism_Homo sapiens_hsa005000.63179319
138Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.63122824
139Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.63001822
140Bladder cancer_Homo sapiens_hsa052190.61613723
141PPAR signaling pathway_Homo sapiens_hsa033200.61217876
142AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.59288576
143Bile secretion_Homo sapiens_hsa049760.59015344
144Prolactin signaling pathway_Homo sapiens_hsa049170.58892190
145FoxO signaling pathway_Homo sapiens_hsa040680.58123566
146Complement and coagulation cascades_Homo sapiens_hsa046100.57863400
147Regulation of actin cytoskeleton_Homo sapiens_hsa048100.57374785
148mTOR signaling pathway_Homo sapiens_hsa041500.56595219
149Neurotrophin signaling pathway_Homo sapiens_hsa047220.56360855
150Epstein-Barr virus infection_Homo sapiens_hsa051690.55487122
151RNA degradation_Homo sapiens_hsa030180.54779775
152HIF-1 signaling pathway_Homo sapiens_hsa040660.54413613
153Primary bile acid biosynthesis_Homo sapiens_hsa001200.52099513
154Insulin signaling pathway_Homo sapiens_hsa049100.51993611
155Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.51918591
156Focal adhesion_Homo sapiens_hsa045100.51359218
157Chemical carcinogenesis_Homo sapiens_hsa052040.51301941
158Regulation of autophagy_Homo sapiens_hsa041400.50114023
159Adherens junction_Homo sapiens_hsa045200.49273567
160MicroRNAs in cancer_Homo sapiens_hsa052060.47947736
161Insulin resistance_Homo sapiens_hsa049310.46830708
162Central carbon metabolism in cancer_Homo sapiens_hsa052300.46408103
163MAPK signaling pathway_Homo sapiens_hsa040100.45986104
164Prostate cancer_Homo sapiens_hsa052150.45100913
165Other glycan degradation_Homo sapiens_hsa005110.44739044
166PI3K-Akt signaling pathway_Homo sapiens_hsa041510.44043613
167* Metabolic pathways_Homo sapiens_hsa011000.42308864
168Pathways in cancer_Homo sapiens_hsa052000.41906881
169Rheumatoid arthritis_Homo sapiens_hsa053230.39911874
170Fatty acid biosynthesis_Homo sapiens_hsa000610.37608075
171Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.37450457
172Basal transcription factors_Homo sapiens_hsa030220.37390695
173Renin-angiotensin system_Homo sapiens_hsa046140.37239519
174Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.37034507
175Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.36645198
176Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.36087440
177Small cell lung cancer_Homo sapiens_hsa052220.35934829
178GnRH signaling pathway_Homo sapiens_hsa049120.35685647
179AMPK signaling pathway_Homo sapiens_hsa041520.35037894
180Arachidonic acid metabolism_Homo sapiens_hsa005900.34950883
181Wnt signaling pathway_Homo sapiens_hsa043100.34828763
182Purine metabolism_Homo sapiens_hsa002300.34462095
183Notch signaling pathway_Homo sapiens_hsa043300.33603209
184Tight junction_Homo sapiens_hsa045300.33462132
185Glycerolipid metabolism_Homo sapiens_hsa005610.33424348
186Retinol metabolism_Homo sapiens_hsa008300.31794370
187Ras signaling pathway_Homo sapiens_hsa040140.30030397
188Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.27835564
189Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.27306159
190Mineral absorption_Homo sapiens_hsa049780.27196355
191Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.26149610

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