EGLN2

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 hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sperm motility (GO:0030317)8.60477782
2fusion of sperm to egg plasma membrane (GO:0007342)8.33522110
3acrosome reaction (GO:0007340)7.59313244
4cell wall macromolecule catabolic process (GO:0016998)7.05926935
5cell wall macromolecule metabolic process (GO:0044036)7.05926935
6sperm-egg recognition (GO:0035036)7.03502897
7binding of sperm to zona pellucida (GO:0007339)6.57542675
8acrosome assembly (GO:0001675)6.37563109
9plasma membrane fusion (GO:0045026)6.31702768
10cell-cell recognition (GO:0009988)6.28000014
11spermatid development (GO:0007286)6.19515634
12multicellular organism reproduction (GO:0032504)5.55299313
13regulation of cilium movement (GO:0003352)5.47057073
14organic cation transport (GO:0015695)5.36053118
15axonemal dynein complex assembly (GO:0070286)5.29316991
16synaptonemal complex organization (GO:0070193)5.27287845
17negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.24681198
18negative regulation of cell killing (GO:0031342)5.24681198
19reproduction (GO:0000003)5.22389081
20synaptonemal complex assembly (GO:0007130)5.21642205
21negative regulation of inclusion body assembly (GO:0090084)5.17711976
22motile cilium assembly (GO:0044458)5.10166275
23epithelial cilium movement (GO:0003351)4.97574909
24piRNA metabolic process (GO:0034587)4.74746557
25cilium or flagellum-dependent cell motility (GO:0001539)4.70177170
26regulation of inclusion body assembly (GO:0090083)4.61495532
27antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.61095912
28positive regulation of gamma-delta T cell activation (GO:0046645)4.59468546
29modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.50798843
30positive regulation by organism of defense response of other organism involved in symbiotic interact4.50798843
31modulation by symbiont of host immune response (GO:0052553)4.50798843
32positive regulation by symbiont of host defense response (GO:0052509)4.50798843
33modulation by symbiont of host defense response (GO:0052031)4.50798843
34modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.50798843
35antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.49084256
36negative regulation of erythrocyte differentiation (GO:0045647)4.48926640
37male meiosis (GO:0007140)4.45285798
38L-phenylalanine metabolic process (GO:0006558)4.40754225
39erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.40754225
40antigen processing and presentation of endogenous antigen (GO:0019883)4.35161447
41spermatogenesis (GO:0007283)4.33540050
42male gamete generation (GO:0048232)4.31413390
43L-phenylalanine catabolic process (GO:0006559)4.22520608
44erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.22520608
45fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.21494922
46sulfur amino acid catabolic process (GO:0000098)4.12733818
47single fertilization (GO:0007338)4.12404369
48sexual reproduction (GO:0019953)4.07203270
49response to peptidoglycan (GO:0032494)4.05176994
50antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.04195732
51detection of other organism (GO:0098543)4.02857240
52macrophage activation involved in immune response (GO:0002281)3.95371926
53detection of bacterium (GO:0016045)3.94633551
54seminiferous tubule development (GO:0072520)3.91689007
55cilium movement (GO:0003341)3.89593521
56sperm capacitation (GO:0048240)3.88935540
57gamete generation (GO:0007276)3.87936415
58amino-acid betaine transport (GO:0015838)3.86767135
59carnitine transport (GO:0015879)3.86767135
60neutrophil activation involved in immune response (GO:0002283)3.83119937
61alpha-linolenic acid metabolic process (GO:0036109)3.77177515
62urea metabolic process (GO:0019627)3.76054662
63urea cycle (GO:0000050)3.76054662
64negative regulation of interleukin-12 production (GO:0032695)3.75248827
65fertilization (GO:0009566)3.72241417
66carnitine transmembrane transport (GO:1902603)3.71298103
67cysteine metabolic process (GO:0006534)3.69610201
68positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.67601348
69regulation of mast cell degranulation (GO:0043304)3.61178288
70regulation of microtubule-based movement (GO:0060632)3.60538988
71epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.59403044
72male meiosis I (GO:0007141)3.59034739
73lysine metabolic process (GO:0006553)3.58299598
74lysine catabolic process (GO:0006554)3.58299598
75chromosome condensation (GO:0030261)3.50132420
76leukocyte aggregation (GO:0070486)3.49426587
77triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.48798840
78microtubule severing (GO:0051013)3.44990816
79aromatic amino acid family catabolic process (GO:0009074)3.42261444
80aspartate family amino acid catabolic process (GO:0009068)3.42145935
81positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.41702321
82positive regulation of Cdc42 GTPase activity (GO:0043089)3.41643844
83NIK/NF-kappaB signaling (GO:0038061)3.39952124
84detection of external biotic stimulus (GO:0098581)3.39613763
85regulation of interferon-beta biosynthetic process (GO:0045357)3.39003802
86germ cell development (GO:0007281)3.38630876
87nitrogen cycle metabolic process (GO:0071941)3.38509829
88response to muramyl dipeptide (GO:0032495)3.38421161
89regulation of leukocyte degranulation (GO:0043300)3.37899387
90respiratory burst (GO:0045730)3.37808119
91regulation of dendritic cell antigen processing and presentation (GO:0002604)3.37239116
92regulation of T-helper 2 cell differentiation (GO:0045628)3.35469641
93regulation of gamma-delta T cell activation (GO:0046643)3.35081478
94amino-acid betaine metabolic process (GO:0006577)3.34411526
95glyoxylate metabolic process (GO:0046487)3.33411336
96mannose metabolic process (GO:0006013)3.32733786
97regulation of mast cell activation involved in immune response (GO:0033006)3.32579361
98cellular process involved in reproduction in multicellular organism (GO:0022412)3.30382923
99regulation of myeloid leukocyte mediated immunity (GO:0002886)3.30316528
100kynurenine metabolic process (GO:0070189)3.29620090
101immunoglobulin mediated immune response (GO:0016064)3.27790843
102calcium ion-dependent exocytosis (GO:0017156)3.27414665
103fructose metabolic process (GO:0006000)3.27327618
104DNA packaging (GO:0006323)3.24485673
105serine family amino acid catabolic process (GO:0009071)3.19759430
106glycerol ether metabolic process (GO:0006662)3.19697179
107chaperone-mediated protein complex assembly (GO:0051131)3.17350683
108negative regulation of cell size (GO:0045792)3.15962597
109cellular response to type I interferon (GO:0071357)3.15237801
110type I interferon signaling pathway (GO:0060337)3.15237801
111negative regulation of fibrinolysis (GO:0051918)3.13389726
112response to type I interferon (GO:0034340)3.13169220
113regulation of fatty acid beta-oxidation (GO:0031998)3.12472294
114cellular modified amino acid catabolic process (GO:0042219)3.11624204
115quaternary ammonium group transport (GO:0015697)3.11460519
116negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.08105311
117negative regulation of leukocyte mediated immunity (GO:0002704)3.07874928
118regulation of B cell receptor signaling pathway (GO:0050855)3.07734670
119negative regulation of lymphocyte mediated immunity (GO:0002707)3.06989141
120detection of molecule of bacterial origin (GO:0032490)3.06957906
121multicellular organismal reproductive process (GO:0048609)3.06442719
122response to mercury ion (GO:0046689)3.06140777
123lipopolysaccharide-mediated signaling pathway (GO:0031663)3.05823758
124meiosis I (GO:0007127)3.01910683
125cellular extravasation (GO:0045123)3.01658914
126high-density lipoprotein particle remodeling (GO:0034375)3.01618318
127protein localization to endosome (GO:0036010)2.99960501
128germinal center formation (GO:0002467)2.99528720
129regulation of T cell tolerance induction (GO:0002664)2.99401077
130barbed-end actin filament capping (GO:0051016)2.99268390
131coenzyme catabolic process (GO:0009109)2.98983169
132complement activation, alternative pathway (GO:0006957)2.97351701
133negative regulation of sterol transport (GO:0032372)2.96662273
134negative regulation of cholesterol transport (GO:0032375)2.96662273
135regulation of triglyceride catabolic process (GO:0010896)2.96602788
136left/right pattern formation (GO:0060972)2.95136956
137modulation by symbiont of host cellular process (GO:0044068)2.95050650
138negative regulation of innate immune response (GO:0045824)2.94969980
139detection of biotic stimulus (GO:0009595)2.94714079
140regulation of gamma-delta T cell differentiation (GO:0045586)2.92548479
141macroautophagy (GO:0016236)2.91980402
142response to host immune response (GO:0052572)2.91708393
143response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.91708393
144regulation of type I interferon-mediated signaling pathway (GO:0060338)2.89679370
145plasma lipoprotein particle clearance (GO:0034381)2.88783991
146granulocyte activation (GO:0036230)2.88389321
147regulation of regulated secretory pathway (GO:1903305)2.88064292
148glycolytic process (GO:0006096)2.88049416
149carnitine metabolic process (GO:0009437)2.87412861
150cellular response to virus (GO:0098586)2.86658560
151positive regulation of mast cell activation (GO:0033005)2.85785279
152fatty acid transmembrane transport (GO:1902001)2.85776372
153carnitine shuttle (GO:0006853)2.85411550
154positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.84578796
155positive thymic T cell selection (GO:0045059)2.83281571
156indole-containing compound catabolic process (GO:0042436)2.83085999
157indolalkylamine catabolic process (GO:0046218)2.83085999
158tryptophan catabolic process (GO:0006569)2.83085999
159modulation by virus of host process (GO:0019054)2.83063061
160ether metabolic process (GO:0018904)2.82992791
161positive regulation of mast cell degranulation (GO:0043306)2.81631278
162positive regulation of mast cell activation involved in immune response (GO:0033008)2.81631278
163defense response to protozoan (GO:0042832)2.80255083
164alditol metabolic process (GO:0019400)2.80007956
165CDP-diacylglycerol metabolic process (GO:0046341)2.79935033
166positive regulation of lipid catabolic process (GO:0050996)2.79822413
167positive regulation of type 2 immune response (GO:0002830)2.79124947
168chromosome organization involved in meiosis (GO:0070192)2.79113062
169negative regulation of phagocytosis (GO:0050765)2.78483526
170response to host (GO:0075136)2.78162584
171response to host defenses (GO:0052200)2.78162584
172response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.78162584
173myeloid cell activation involved in immune response (GO:0002275)2.77742127
174DNA methylation involved in gamete generation (GO:0043046)2.77357809
175neutrophil activation (GO:0042119)2.77179427
176glycine metabolic process (GO:0006544)2.75125564
177regulation of type 2 immune response (GO:0002828)2.74810357
178macrophage activation (GO:0042116)2.73165478
179regulation of tolerance induction (GO:0002643)2.72689987
180negative regulation of type 2 immune response (GO:0002829)2.71842140
181negative regulation of cytokine production involved in immune response (GO:0002719)2.71374338
182interferon-gamma-mediated signaling pathway (GO:0060333)2.70109908
183response to laminar fluid shear stress (GO:0034616)2.69721348
184response to protozoan (GO:0001562)2.64186033
1853-UTR-mediated mRNA stabilization (GO:0070935)2.63401039
186negative regulation of toll-like receptor signaling pathway (GO:0034122)2.62811568
187myeloid dendritic cell differentiation (GO:0043011)2.61798362
188amino sugar catabolic process (GO:0046348)2.60957076
189B cell receptor signaling pathway (GO:0050853)2.60805703
190positive regulation of antigen processing and presentation (GO:0002579)2.60344074
191positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.59422799
192regulation of antigen processing and presentation (GO:0002577)2.59072331
193tolerance induction (GO:0002507)2.59062179
194pentose-phosphate shunt (GO:0006098)2.57435766
195thymic T cell selection (GO:0045061)2.54998817
196negative regulation of T cell mediated immunity (GO:0002710)2.54902044
197regulation of mast cell activation (GO:0033003)2.54866376
198negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.53711723
199positive regulation of leukocyte degranulation (GO:0043302)2.51122649
200leukocyte migration involved in inflammatory response (GO:0002523)2.50999300

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse5.60356042
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.69587108
3* RXR_22158963_ChIP-Seq_LIVER_Mouse3.29619435
4PPARA_22158963_ChIP-Seq_LIVER_Mouse3.26946182
5PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.88363031
6TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.70081624
7BP1_19119308_ChIP-ChIP_Hs578T_Human2.63366492
8LXR_22158963_ChIP-Seq_LIVER_Mouse2.62307437
9NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.58144568
10STAT6_21828071_ChIP-Seq_BEAS2B_Human2.46432131
11FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.43102090
12IRF8_22096565_ChIP-ChIP_GC-B_Human2.29680997
13MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.18145365
14LXR_22292898_ChIP-Seq_THP-1_Human2.13034507
15* VDR_24763502_ChIP-Seq_THP-1_Human2.12342795
16TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.06261265
17TET1_21451524_ChIP-Seq_MESCs_Mouse1.99770220
18MAF_26560356_Chip-Seq_TH1_Human1.94844341
19SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.90733059
20SRY_22984422_ChIP-ChIP_TESTIS_Rat1.89424528
21NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.87685960
22* BCOR_27268052_Chip-Seq_Bcells_Human1.87656140
23* ELF1_20517297_ChIP-Seq_JURKAT_Human1.84746252
24EGR1_19374776_ChIP-ChIP_THP-1_Human1.84014360
25RUNX1_22412390_ChIP-Seq_EML_Mouse1.79987010
26IRF8_21731497_ChIP-ChIP_J774_Mouse1.78763570
27UTX_26944678_Chip-Seq_JUKART_Human1.78490370
28ZNF263_19887448_ChIP-Seq_K562_Human1.76336160
29NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.76131072
30MAF_26560356_Chip-Seq_TH2_Human1.73613251
31BCL6_27268052_Chip-Seq_Bcells_Human1.71277767
32P68_20966046_ChIP-Seq_HELA_Human1.70755227
33KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.69382211
34YY1_22570637_ChIP-Seq_MALME-3M_Human1.65357365
35BRD4_27068464_Chip-Seq_AML-cells_Mouse1.65075413
36SPI1_23127762_ChIP-Seq_K562_Human1.65040708
37TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.63988517
38KDM2B_26808549_Chip-Seq_K562_Human1.63917636
39* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.62700251
40SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.61606383
41CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.58533656
42PHF8_20622854_ChIP-Seq_HELA_Human1.57653918
43CTCF_27219007_Chip-Seq_ERYTHROID_Human1.56745959
44FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.55365374
45* IRF8_27001747_Chip-Seq_BMDM_Mouse1.55015112
46MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.54980578
47STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.54023096
48SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.52759804
49* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.52403699
50STAT4_19710469_ChIP-ChIP_TH1__Mouse1.51949302
51THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.50800850
52KDM2B_26808549_Chip-Seq_JURKAT_Human1.50601578
53RXRA_24833708_ChIP-Seq_LIVER_Mouse1.49681955
54MYB_21317192_ChIP-Seq_ERMYB_Mouse1.49249801
55SPI1_23547873_ChIP-Seq_NB4_Human1.49214858
56SMC4_20622854_ChIP-Seq_HELA_Human1.49011678
57* CTCF_27219007_Chip-Seq_Bcells_Human1.47806275
58CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.47620366
59TCF7_22412390_ChIP-Seq_EML_Mouse1.46282098
60RARA_24833708_ChIP-Seq_LIVER_Mouse1.46184229
61TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.46006054
62RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.45093435
63SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.42635114
64VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.40015186
65GATA1_19941827_ChIP-Seq_MEL_Mouse1.39417406
66SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.39193373
67SCL_19346495_ChIP-Seq_HPC-7_Human1.38781166
68FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.38609844
69CTCF_20526341_ChIP-Seq_ESCs_Human1.38257861
70CTCF_26484167_Chip-Seq_Bcells_Mouse1.38014188
71EGR1_23403033_ChIP-Seq_LIVER_Mouse1.36422267
72GATA1_22383799_ChIP-Seq_G1ME_Mouse1.36041316
73RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.35724561
74* E2F1_20622854_ChIP-Seq_HELA_Human1.34948686
75NCOR1_26117541_ChIP-Seq_K562_Human1.33706005
76PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.33705739
77ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.33270020
78ZFP281_18757296_ChIP-ChIP_E14_Mouse1.32660909
79RARB_24833708_ChIP-Seq_LIVER_Mouse1.31112649
80EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.30058070
81GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.29778753
82PU.1_20513432_ChIP-Seq_Bcells_Mouse1.28796950
83CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.28079817
84* SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.26963755
85CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.26357652
86CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse1.25143374
87CTCF_21964334_ChIP-Seq_BJAB-B_Human1.25027520
88SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.24968372
89NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.24859882
90RAD21_21589869_ChIP-Seq_MESCs_Mouse1.24825809
91UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.24654034
92SOX2_22085726_ChIP-Seq_NPCs_Mouse1.23906776
93PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.23872413
94GATA1_26923725_Chip-Seq_HPCs_Mouse1.23698997
95SA1_27219007_Chip-Seq_Bcells_Human1.22901028
96* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.22621417
97KDM2B_26808549_Chip-Seq_DND41_Human1.21360941
98* JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.20756678
99SPI1_20517297_ChIP-Seq_HL60_Human1.20623528
100RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.20607343
101ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.19759650
102SOX2_21211035_ChIP-Seq_LN229_Human1.19183469
103DNAJC2_21179169_ChIP-ChIP_NT2_Human1.19173541
104SA1_27219007_Chip-Seq_ERYTHROID_Human1.18844192
105* FOXP1_21924763_ChIP-Seq_HESCs_Human1.18374638
106P53_21459846_ChIP-Seq_SAOS-2_Human1.18036133
107TP63_22573176_ChIP-Seq_HFKS_Human1.17717635
108VDR_21846776_ChIP-Seq_THP-1_Human1.16778673
109EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.16219660
110* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.16151685
111* MYC_22102868_ChIP-Seq_BL_Human1.16012575
112SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.15659454
113CTCF_18555785_ChIP-Seq_MESCs_Mouse1.14889203
114KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.14596766
115STAT3_1855785_ChIP-Seq_MESCs_Mouse1.14524545
116SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.14504527
117STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.13083056
118GATA1_19941826_ChIP-Seq_K562_Human1.12346745
119* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.12054524
120NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.11954222
121RARG_19884340_ChIP-ChIP_MEFs_Mouse1.11868055
122* ELK3_25401928_ChIP-Seq_HUVEC_Human1.11711195
123LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.11617712
124CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.11470345
125CTCF_21964334_Chip-Seq_Bcells_Human1.10801531
126PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.10744223
127RAC3_21632823_ChIP-Seq_H3396_Human1.10293689
128* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.09964369
129* SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.09579996
130GATA3_21867929_ChIP-Seq_CD8_Mouse1.09497401
131KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.09131476
132SPI1_26923725_Chip-Seq_HPCs_Mouse1.09040367
133ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.09021326
134PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.08977388
135RACK7_27058665_Chip-Seq_MCF-7_Human1.08120289
136ELK4_26923725_Chip-Seq_MESODERM_Mouse1.07517276
137IKZF1_21737484_ChIP-ChIP_HCT116_Human1.07481287
138ERG_21242973_ChIP-ChIP_JURKAT_Human1.07276727
139FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.06990640
140KDM2B_26808549_Chip-Seq_SUP-B15_Human1.06876675
141* P300_27268052_Chip-Seq_Bcells_Human1.06352796
142TP53_22127205_ChIP-Seq_IMR90_Human1.05945925
143DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.05679094
144GATA2_22383799_ChIP-Seq_G1ME_Mouse1.05552094
145CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.05383214
146MYC_27129775_Chip-Seq_CORNEA_Mouse1.05219474
147* TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.04668756
148PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.04535107
149E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.03869866
150KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.03851899
151TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.03555350
152RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.03278020
153TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.02352249
154* MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.01195894
155ETS1_21867929_ChIP-Seq_TH2_Mouse0.99660763
156GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.99546845
157* EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.98681929
158BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.98602879
159CREB1_26743006_Chip-Seq_LNCaP_Human0.98293732

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization9.23960215
2MP0002139_abnormal_hepatobiliary_system5.09539900
3MP0005360_urolithiasis4.38504623
4MP0003303_peritoneal_inflammation4.36890174
5MP0003436_decreased_susceptibility_to3.90958035
6MP0005365_abnormal_bile_salt3.87903707
7MP0003724_increased_susceptibility_to3.53853195
8MP0003698_abnormal_male_reproductive3.27722855
9MP0005085_abnormal_gallbladder_physiolo3.26301668
10MP0003806_abnormal_nucleotide_metabolis3.21429876
11MP0005670_abnormal_white_adipose3.08892452
12MP0001929_abnormal_gametogenesis2.98054763
13MP0008260_abnormal_autophagy2.92168605
14MP0008875_abnormal_xenobiotic_pharmacok2.61766610
15MP0002419_abnormal_innate_immunity2.61087503
16MP0005025_abnormal_response_to2.50318100
17MP0001835_abnormal_antigen_presentation2.46737426
18MP0003646_muscle_fatigue2.45148844
19MP0009840_abnormal_foam_cell2.42825369
20MP0005083_abnormal_biliary_tract2.41759826
21MP0005000_abnormal_immune_tolerance2.38822978
22MP0005387_immune_system_phenotype2.35769893
23MP0001790_abnormal_immune_system2.35769893
24MP0010329_abnormal_lipoprotein_level2.34506362
25MP0003300_gastrointestinal_ulcer2.27658231
26MP0006082_CNS_inflammation2.21293893
27MP0003172_abnormal_lysosome_physiology2.20738682
28MP0000685_abnormal_immune_system2.18319588
29MP0009785_altered_susceptibility_to2.13020946
30MP0003252_abnormal_bile_duct2.12823409
31MP0001800_abnormal_humoral_immune2.12193704
32MP0005671_abnormal_response_to2.10471691
33MP0003705_abnormal_hypodermis_morpholog2.07947154
34MP0004510_myositis2.07943579
35MP0002723_abnormal_immune_serum2.06883166
36MP0002653_abnormal_ependyma_morphology2.05018021
37MP0002452_abnormal_antigen_presenting2.01426544
38MP0002420_abnormal_adaptive_immunity2.00309293
39MP0001819_abnormal_immune_cell1.99683359
40MP0002148_abnormal_hypersensitivity_rea1.97221006
41MP0004947_skin_inflammation1.96834882
42MP0001533_abnormal_skeleton_physiology1.96340034
43MP0003763_abnormal_thymus_physiology1.92366733
44* MP0002161_abnormal_fertility/fecundity1.87647438
45MP0009333_abnormal_splenocyte_physiolog1.86205563
46MP0008961_abnormal_basal_metabolism1.85988444
47MP0005464_abnormal_platelet_physiology1.80056284
48MP0005397_hematopoietic_system_phenotyp1.76802146
49MP0001545_abnormal_hematopoietic_system1.76802146
50MP0002405_respiratory_system_inflammati1.71732213
51MP0005332_abnormal_amino_acid1.71335069
52MP0001666_abnormal_nutrient_absorption1.70082989
53MP0000858_altered_metastatic_potential1.69452794
54* MP0006036_abnormal_mitochondrial_physio1.65279172
55MP0002210_abnormal_sex_determination1.64246427
56MP0010155_abnormal_intestine_physiology1.60892802
57MP0005319_abnormal_enzyme/_coenzyme1.58309348
58MP0002398_abnormal_bone_marrow1.56132609
59MP0003191_abnormal_cellular_cholesterol1.55737223
60MP0001145_abnormal_male_reproductive1.54771310
61MP0000609_abnormal_liver_physiology1.53899559
62MP0000716_abnormal_immune_system1.53889549
63MP0003075_altered_response_to1.53377405
64MP0002269_muscular_atrophy1.50692680
65MP0002118_abnormal_lipid_homeostasis1.49747348
66MP0002998_abnormal_bone_remodeling1.46998602
67MP0003828_pulmonary_edema1.44800027
68MP0001845_abnormal_inflammatory_respons1.44726414
69MP0000343_altered_response_to1.40735377
70MP0005666_abnormal_adipose_tissue1.32611933
71MP0009764_decreased_sensitivity_to1.31823669
72MP0000465_gastrointestinal_hemorrhage1.30909620
73* MP0002722_abnormal_immune_system1.30875003
74MP0000751_myopathy1.30841436
75* MP0002429_abnormal_blood_cell1.29388747
76MP0002254_reproductive_system_inflammat1.28566154
77MP0004130_abnormal_muscle_cell1.28039093
78MP0008469_abnormal_protein_level1.27985593
79MP0000653_abnormal_sex_gland1.27518258
80* MP0000689_abnormal_spleen_morphology1.24708385
81MP0006035_abnormal_mitochondrial_morpho1.24182137
82MP0003453_abnormal_keratinocyte_physiol1.23852146
83MP0004233_abnormal_muscle_weight1.20581059
84MP0003656_abnormal_erythrocyte_physiolo1.20075378
85MP0000703_abnormal_thymus_morphology1.19630194
86MP0002837_dystrophic_cardiac_calcinosis1.19303996
87MP0002234_abnormal_pharynx_morphology1.19215305
88MP0005636_abnormal_mineral_homeostasis1.17934251
89MP0004019_abnormal_vitamin_homeostasis1.13549572
90MP0003091_abnormal_cell_migration1.11732387
91MP0009643_abnormal_urine_homeostasis1.10750577
92MP0008004_abnormal_stomach_pH1.10603851
93MP0001853_heart_inflammation1.10482387
94MP0003183_abnormal_peptide_metabolism1.08876628
95MP0002160_abnormal_reproductive_system1.08741892
96MP0005310_abnormal_salivary_gland1.08426140
97MP0000490_abnormal_crypts_of1.07587901
98MP0003279_aneurysm1.06943056
99MP0003690_abnormal_glial_cell1.06319112
100MP0000749_muscle_degeneration1.06100726
101MP0005584_abnormal_enzyme/coenzyme_acti1.04995561
102MP0003195_calcinosis1.04607375
103MP0002909_abnormal_adrenal_gland1.03744936
104MP0003868_abnormal_feces_composition1.02882601
105MP0002132_abnormal_respiratory_system1.02761460
106MP0005076_abnormal_cell_differentiation1.02543463
107MP0003866_abnormal_defecation1.01606860
108MP0005166_decreased_susceptibility_to1.01253817
109MP0003566_abnormal_cell_adhesion0.99980183
110MP0004145_abnormal_muscle_electrophysio0.98712068
111MP0001765_abnormal_ion_homeostasis0.97857039
112MP0005390_skeleton_phenotype0.96654507
113* MP0000598_abnormal_liver_morphology0.95878154
114MP0004858_abnormal_nervous_system0.93473919
115MP0001663_abnormal_digestive_system0.93290806
116MP0001873_stomach_inflammation0.93215597
117MP0000678_abnormal_parathyroid_gland0.93187390
118MP0003329_amyloid_beta_deposits0.92237882
119MP0001851_eye_inflammation0.91758871
120MP0002138_abnormal_hepatobiliary_system0.91083736
121MP0004036_abnormal_muscle_relaxation0.90458784
122MP0004381_abnormal_hair_follicle0.90244418
123MP0008874_decreased_physiological_sensi0.90231138
124MP0003448_altered_tumor_morphology0.90041466
125MP0004087_abnormal_muscle_fiber0.89885596
126MP0000358_abnormal_cell_content/0.89615219
127MP0001849_ear_inflammation0.88034089
128MP0003283_abnormal_digestive_organ0.87697351
129MP0002933_joint_inflammation0.86868921
130MP0001764_abnormal_homeostasis0.86672987
131MP0002078_abnormal_glucose_homeostasis0.85304480
132MP0005266_abnormal_metabolism0.84428428
133MP0004883_abnormal_blood_vessel0.81522652
134MP0008877_abnormal_DNA_methylation0.78801543
135MP0000750_abnormal_muscle_regeneration0.78664905
136MP0005375_adipose_tissue_phenotype0.78022727
137MP0001958_emphysema0.77651009
138MP0001756_abnormal_urination0.76479581
139MP0004043_abnormal_pH_regulation0.76286464
140MP0003879_abnormal_hair_cell0.75739360
141MP0005451_abnormal_body_composition0.74263978
142MP0000747_muscle_weakness0.73958379
143MP0005535_abnormal_body_temperature0.73570167
144MP0004808_abnormal_hematopoietic_stem0.73346379
145MP0009642_abnormal_blood_homeostasis0.72000175
146MP0003795_abnormal_bone_structure0.71398440
147MP0000249_abnormal_blood_vessel0.71268289
148MP0001542_abnormal_bone_strength0.71103853
149MP0003011_delayed_dark_adaptation0.70135368
150MP0002396_abnormal_hematopoietic_system0.69905772
151MP0004264_abnormal_extraembryonic_tissu0.69190701
152MP0005164_abnormal_response_to0.68342501
153MP0002971_abnormal_brown_adipose0.67719361
154MP0000604_amyloidosis0.66991454
155MP0002822_catalepsy0.66817686
156MP0003115_abnormal_respiratory_system0.66639699
157MP0002970_abnormal_white_adipose0.65874681
158MP0009115_abnormal_fat_cell0.65871353
159MP0005381_digestive/alimentary_phenotyp0.65253390
160MP0005220_abnormal_exocrine_pancreas0.64547008
161MP0009278_abnormal_bone_marrow0.64544037
162* MP0000759_abnormal_skeletal_muscle0.63628488
163* MP0002106_abnormal_muscle_physiology0.62483136
164MP0005330_cardiomyopathy0.62187682
165MP0009763_increased_sensitivity_to0.61383050
166MP0005058_abnormal_lysosome_morphology0.61311577
167MP0001348_abnormal_lacrimal_gland0.60200860
168MP0005334_abnormal_fat_pad0.59491908
169MP0002332_abnormal_exercise_endurance0.56734023
170MP0004185_abnormal_adipocyte_glucose0.56397313
171MP0005167_abnormal_blood-brain_barrier0.54762179
172MP0001944_abnormal_pancreas_morphology0.54055825
173MP0009672_abnormal_birth_weight0.52932647
174MP0005647_abnormal_sex_gland0.52474633
175MP0010630_abnormal_cardiac_muscle0.51530991
176MP0001730_embryonic_growth_arrest0.51443451
177MP0003186_abnormal_redox_activity0.51305232
178MP0003953_abnormal_hormone_level0.51074813
179MP0003119_abnormal_digestive_system0.50335563
180MP0002928_abnormal_bile_duct0.48963730

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)6.82905269
2Dynein arm defect of respiratory motile cilia (HP:0012255)6.53427903
3Absent/shortened dynein arms (HP:0200106)6.53427903
4Nasal polyposis (HP:0100582)5.58570939
5Eczematoid dermatitis (HP:0000976)5.42274467
6Abnormality of the nasal mucosa (HP:0000433)4.95931910
7Infertility (HP:0000789)4.83310341
8Chronic bronchitis (HP:0004469)4.79324639
9Abnormal respiratory epithelium morphology (HP:0012253)4.48817262
10Abnormal respiratory motile cilium morphology (HP:0005938)4.48817262
11Recurrent abscess formation (HP:0002722)4.45752670
12Abnormality of macrophages (HP:0004311)4.33928494
13Abnormal respiratory motile cilium physiology (HP:0012261)4.33873700
14Recurrent bacterial skin infections (HP:0005406)4.30316006
15Abnormality of the lower motor neuron (HP:0002366)4.12410743
16Rhinitis (HP:0012384)4.01993519
17Myositis (HP:0100614)3.95266385
18Abnormality of aromatic amino acid family metabolism (HP:0004338)3.88063055
19Deep venous thrombosis (HP:0002625)3.75512994
20Orchitis (HP:0100796)3.63124403
21Cholecystitis (HP:0001082)3.43530162
22Abnormal gallbladder physiology (HP:0012438)3.43530162
23Abnormality of glycolipid metabolism (HP:0010969)3.42611351
24Abnormality of liposaccharide metabolism (HP:0010968)3.42611351
25Abnormality of glycosphingolipid metabolism (HP:0004343)3.42611351
26Recurrent gram-negative bacterial infections (HP:0005420)3.42039923
27Mediastinal lymphadenopathy (HP:0100721)3.40676303
28Male infertility (HP:0003251)3.39772328
29Myoglobinuria (HP:0002913)3.35003304
30Cellulitis (HP:0100658)3.34463610
31Chronic obstructive pulmonary disease (HP:0006510)3.33421444
32Obstructive lung disease (HP:0006536)3.33421444
33Difficulty climbing stairs (HP:0003551)3.32322315
34Xanthomatosis (HP:0000991)3.31859955
35Ketosis (HP:0001946)3.25575507
36Increased cerebral lipofuscin (HP:0011813)3.17501338
37Abnormality of monocarboxylic acid metabolism (HP:0010996)3.16750696
38Exercise-induced myalgia (HP:0003738)3.16119230
39Gout (HP:0001997)3.09450702
40Gingivitis (HP:0000230)3.08945293
41Hypobetalipoproteinemia (HP:0003563)3.08846384
42Bronchitis (HP:0012387)3.06409636
43Retrobulbar optic neuritis (HP:0100654)3.03232463
44Optic neuritis (HP:0100653)3.03232463
45Hypercholesterolemia (HP:0003124)2.94255313
46Spontaneous hematomas (HP:0007420)2.92308719
47Increased IgE level (HP:0003212)2.89084271
48Malnutrition (HP:0004395)2.88958620
49Elevated erythrocyte sedimentation rate (HP:0003565)2.86047904
50Dysostosis multiplex (HP:0000943)2.83927608
51Systemic lupus erythematosus (HP:0002725)2.82010813
52Loss of speech (HP:0002371)2.75960366
53Hyperammonemia (HP:0001987)2.70596614
54Stomatitis (HP:0010280)2.68627735
55Meningitis (HP:0001287)2.68240053
56Complement deficiency (HP:0004431)2.67502877
57Increased neuronal autofluorescent lipopigment (HP:0002074)2.65656858
58Rhabdomyolysis (HP:0003201)2.65311885
59Asymmetric septal hypertrophy (HP:0001670)2.64181837
60Gastrointestinal infarctions (HP:0005244)2.61693204
61Intrahepatic cholestasis (HP:0001406)2.59772716
62Recurrent fungal infections (HP:0002841)2.58791588
63Abnormal ciliary motility (HP:0012262)2.58158496
64Interstitial pulmonary disease (HP:0006530)2.55435480
65Hypolipoproteinemia (HP:0010981)2.54002633
66Hyperlipoproteinemia (HP:0010980)2.53640392
67Purpura (HP:0000979)2.49383538
68Difficulty running (HP:0009046)2.48252264
69Petechiae (HP:0000967)2.47337304
70Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.47236822
71EMG: neuropathic changes (HP:0003445)2.45232391
72Colitis (HP:0002583)2.45005731
73Hypoalphalipoproteinemia (HP:0003233)2.43759402
74Global brain atrophy (HP:0002283)2.43570008
75Recurrent skin infections (HP:0001581)2.43126316
76Hand muscle atrophy (HP:0009130)2.40117169
77Late onset (HP:0003584)2.38575431
78Gastrointestinal inflammation (HP:0004386)2.35497018
79Prolonged bleeding time (HP:0003010)2.33842078
80Hyperglycinuria (HP:0003108)2.33594382
81Amyloidosis (HP:0011034)2.32928348
82Increased serum ferritin (HP:0003281)2.32016645
83Slow saccadic eye movements (HP:0000514)2.30628510
84Urticaria (HP:0001025)2.30213370
85Bronchiectasis (HP:0002110)2.29345672
86Abnormality of complement system (HP:0005339)2.29318812
87Axonal loss (HP:0003447)2.26053959
88Ketoacidosis (HP:0001993)2.25612207
89Keratoconjunctivitis sicca (HP:0001097)2.23728149
90Hyperglycinemia (HP:0002154)2.23598018
91Abnormality of the Achilles tendon (HP:0005109)2.22786866
92Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.22463363
93Hepatosplenomegaly (HP:0001433)2.22355338
94Inflammation of the large intestine (HP:0002037)2.22184371
95Recurrent otitis media (HP:0000403)2.21872780
96Hemorrhage of the eye (HP:0011885)2.21773082
97Supranuclear gaze palsy (HP:0000605)2.21676523
98Vasculitis (HP:0002633)2.21224030
99Neuronal loss in central nervous system (HP:0002529)2.20448103
100Bundle branch block (HP:0011710)2.15843600
101Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.15635718
102Exercise-induced muscle cramps (HP:0003710)2.15321516
103Abnormality of mucopolysaccharide metabolism (HP:0011020)2.14734420
104Abnormality of polysaccharide metabolism (HP:0011012)2.14734420
105Abnormality of glycosaminoglycan metabolism (HP:0004371)2.14734420
106Encephalitis (HP:0002383)2.12944748
107Upper limb amyotrophy (HP:0009129)2.12275084
108Distal upper limb amyotrophy (HP:0007149)2.12275084
109Hypertensive crisis (HP:0100735)2.11737471
110Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.10910750
111Abnormality of purine metabolism (HP:0004352)2.10081125
112Segmental peripheral demyelination/remyelination (HP:0003481)2.08702308
113Cerebral aneurysm (HP:0004944)2.08612859
114Abnormal delayed hypersensitivity skin test (HP:0002963)2.08580527
115Abnormality of serine family amino acid metabolism (HP:0010894)2.07800012
116Abnormality of glycine metabolism (HP:0010895)2.07800012
117Abnormality of glutamine family amino acid metabolism (HP:0010902)2.06138529
118Hyporeflexia of lower limbs (HP:0002600)2.05810765
119Recurrent viral infections (HP:0004429)2.05631001
120Progressive muscle weakness (HP:0003323)2.04813773
121Polygenic inheritance (HP:0010982)2.04677737
122Hypochromic anemia (HP:0001931)2.04330708
123Hypertriglyceridemia (HP:0002155)2.03722929
124Epistaxis (HP:0000421)2.02700597
125Chest pain (HP:0100749)2.02233673
126Cholelithiasis (HP:0001081)2.00683426
127Spastic tetraparesis (HP:0001285)1.99851852
128Neoplasm of the heart (HP:0100544)1.99340449
129Mucopolysacchariduria (HP:0008155)1.97626645
130Urinary glycosaminoglycan excretion (HP:0003541)1.97626645
131Impulsivity (HP:0100710)1.97398517
132Polycythemia (HP:0001901)1.97092120
133Increased purine levels (HP:0004368)1.97058254
134Hyperuricemia (HP:0002149)1.97058254
135Increased IgM level (HP:0003496)1.97034241
136Pulmonary infiltrates (HP:0002113)1.96188568
137Osteomyelitis (HP:0002754)1.95792743
138Abnormality of fatty-acid metabolism (HP:0004359)1.95776616
139Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.94675012
140Vacuolated lymphocytes (HP:0001922)1.94381900
141Recurrent sinusitis (HP:0011108)1.94255930
142Metaphyseal cupping (HP:0003021)1.93636239
143Pustule (HP:0200039)1.93461944
144Neurofibrillary tangles (HP:0002185)1.93215173
145Abnormality of nucleobase metabolism (HP:0010932)1.92557454
146Hemoptysis (HP:0002105)1.92456691
147Hypoglycemic coma (HP:0001325)1.91206485
148Recurrent bronchitis (HP:0002837)1.91132968
149Achilles tendon contracture (HP:0001771)1.91044299
150Gastrointestinal dysmotility (HP:0002579)1.90895478
151Reticulocytosis (HP:0001923)1.90697954
152Progressive neurologic deterioration (HP:0002344)1.89484083
153Cerebral inclusion bodies (HP:0100314)1.89074915
154Death in childhood (HP:0003819)1.89041777
155Thoracic kyphosis (HP:0002942)1.88622576
156Keratoconjunctivitis (HP:0001096)1.88480066
157Amyotrophic lateral sclerosis (HP:0007354)1.87723396
158Abnormal spermatogenesis (HP:0008669)1.87470804
159Vertebral compression fractures (HP:0002953)1.86901501
160Prolonged partial thromboplastin time (HP:0003645)1.86783780
161Hyperbilirubinemia (HP:0002904)1.86368388
162Multiple enchondromatosis (HP:0005701)1.86073863
163Obstructive sleep apnea (HP:0002870)1.84717077
164Ulnar deviation of the wrist (HP:0003049)1.84512272
165Episodic fever (HP:0001954)1.83558494
166Abnormal gallbladder morphology (HP:0012437)1.83486622
167Emphysema (HP:0002097)1.83390264
168Increased connective tissue (HP:0009025)1.81929047
169Pathologic fracture (HP:0002756)1.81442889
170Recurrent cutaneous fungal infections (HP:0011370)1.80827792
171Chronic mucocutaneous candidiasis (HP:0002728)1.80827792
172Abnormality of iron homeostasis (HP:0011031)1.78808482
173Abnormality of the pancreatic islet cells (HP:0006476)1.77492415
174Abnormality of endocrine pancreas physiology (HP:0012093)1.77492415
175Abnormality of sulfur amino acid metabolism (HP:0004339)1.77371718
176Gastrointestinal stroma tumor (HP:0100723)1.77365471
177Long palpebral fissure (HP:0000637)1.77018507
178Abnormality of the intrinsic pathway (HP:0010989)1.76976746
179Hypergammaglobulinemia (HP:0010702)1.76565060
180Stroke (HP:0001297)1.76409289
181Upper motor neuron abnormality (HP:0002127)1.71289405
182Abnormal cartilage morphology (HP:0002763)1.70130764
183Ragged-red muscle fibers (HP:0003200)1.69950120
184Status epilepticus (HP:0002133)1.69083452
185Long toe (HP:0010511)1.68163428
186Muscle stiffness (HP:0003552)1.67770670
187Myopathic facies (HP:0002058)1.66952479
188Nephronophthisis (HP:0000090)1.64688988
189Insulin resistance (HP:0000855)1.62609827
190Skin nodule (HP:0200036)1.61100208

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK35.01861434
2PDK45.01861434
3TESK14.59986430
4PRKD34.18250627
5NEK14.09257183
6ICK3.57492113
7PRPF4B3.56010319
8ERN13.55047370
9TRIB33.47170920
10BCKDK2.84370699
11PDK22.80702524
12NEK22.70751381
13MAP3K102.08427377
14SMG12.06192372
15TAOK22.01892317
16IRAK41.96753701
17IRAK31.94921603
18BLK1.89808818
19PKN21.77598711
20EEF2K1.75893367
21CSK1.75422057
22PTK2B1.71640666
23STK381.65467315
24EPHB11.60679032
25NME21.59118469
26FES1.56584891
27DYRK1B1.51148796
28TNK21.47132813
29PINK11.37631412
30JAK31.30556569
31WNK41.28133792
32MAP3K91.28039093
33TYRO31.26616312
34FGR1.23227083
35MAP3K111.20243835
36MAP3K131.19815974
37SIK31.18030502
38PRKD21.16559430
39PASK1.16365453
40DYRK31.14497914
41CDC42BPA1.14443597
42BTK1.14261264
43SIK11.12386355
44MAP3K141.05710850
45IKBKE1.05705439
46FGFR41.05649410
47CAMKK11.03713049
48TTN1.02935979
49MAP4K10.99898550
50HCK0.98929816
51PDK10.98459593
52KSR20.97067816
53GRK60.94574842
54MAP3K60.88854827
55TAOK10.86509032
56IRAK20.83899319
57BMX0.82985134
58RPS6KC10.82847930
59RPS6KL10.82847930
60SYK0.81640445
61MAPK150.80464327
62PDPK10.79261366
63MAPKAPK30.79179046
64PIM20.78805159
65MAP2K30.77438472
66CDK190.75640731
67HIPK20.74827988
68LYN0.73051564
69MAP2K60.72582473
70RIPK10.72134534
71PTK60.70878582
72MAP2K20.69798986
73ARAF0.69447285
74MARK20.68397265
75LCK0.65849190
76JAK10.63886803
77IKBKB0.63731899
78PAK40.62879618
79MTOR0.62393671
80CAMK1D0.61521608
81RPS6KA60.61193558
82CCNB10.60337903
83DDR20.57924972
84PHKG10.57358632
85PHKG20.57358632
86DAPK20.54231089
87TESK20.52488530
88MAP3K10.51762397
89MARK30.50442284
90BRAF0.49559665
91PRKCZ0.49527436
92MAP2K40.47657748
93LRRK20.46929347
94CDK40.45726394
95GRK70.45697777
96CDK120.44544401
97FYN0.44173642
98MAPK110.43945544
99KIT0.43860290
100ABL20.42642037
101MAPK70.41714254
102PAK60.40322822
103LATS20.40022605
104PAK10.39565443
105LMTK20.39064986
106RET0.38927628
107PDGFRA0.38012491
108PRKAA10.37832992
109NTRK10.37691813
110ITK0.37611191
111PIM10.37541692
112MOS0.37305477
113RPS6KA20.35482661
114IRAK10.35160363
115GRK50.34002898
116RIPK40.33864974
117SIK20.33260934
118CSF1R0.33089803
119CAMK1G0.32239621
120RPS6KA10.32025483
121MAPK120.31278033
122TBK10.30842614
123WNK10.30047203
124OBSCN0.29502737
125PTK20.29424381
126FLT30.29302005
127ZAP700.28778027
128STK100.26359015
129TGFBR20.25604730
130JAK20.23406881
131NTRK20.23097951
132TTK0.23018338
133MAP3K80.22835977
134MATK0.22387459
135KDR0.21930872
136MAP3K30.21809165
137TYK20.21656213
138DAPK30.21582906
139MAP2K10.21254506
140EPHB20.20273041
141PNCK0.20048550
142PAK20.19750868
143WNK30.18254091
144PRKCG0.18163180
145PRKG20.17378625
146MAP3K70.17284658
147MAPK40.16270691
148PRKACG0.14778839

Predicted pathways (KEGG)

RankGene SetZ-score
1Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.36432832
2Primary bile acid biosynthesis_Homo sapiens_hsa001202.76215464
3Other glycan degradation_Homo sapiens_hsa005112.68698358
4Osteoclast differentiation_Homo sapiens_hsa043802.66827979
5Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.63328939
6Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.62219280
7Propanoate metabolism_Homo sapiens_hsa006402.59961654
8Pyruvate metabolism_Homo sapiens_hsa006202.58328023
9Fatty acid degradation_Homo sapiens_hsa000712.57283557
10Nitrogen metabolism_Homo sapiens_hsa009102.43898431
11Selenocompound metabolism_Homo sapiens_hsa004502.43029005
12Leishmaniasis_Homo sapiens_hsa051402.32158891
13PPAR signaling pathway_Homo sapiens_hsa033202.27007290
14Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.23930130
15Sulfur relay system_Homo sapiens_hsa041222.17409054
16Arginine biosynthesis_Homo sapiens_hsa002202.16679229
17Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.12209986
18Toll-like receptor signaling pathway_Homo sapiens_hsa046202.04351195
19Carbon metabolism_Homo sapiens_hsa012001.96726735
20Fat digestion and absorption_Homo sapiens_hsa049751.95236076
21Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.92788010
22Vitamin B6 metabolism_Homo sapiens_hsa007501.92181636
23Tryptophan metabolism_Homo sapiens_hsa003801.90090943
242-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.83115919
25Fatty acid metabolism_Homo sapiens_hsa012121.82329313
26Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.81446868
27Tuberculosis_Homo sapiens_hsa051521.78900258
28Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.78470870
29Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.76977028
30Fatty acid biosynthesis_Homo sapiens_hsa000611.75319642
31Biosynthesis of amino acids_Homo sapiens_hsa012301.74901183
32Pentose and glucuronate interconversions_Homo sapiens_hsa000401.67839601
33Malaria_Homo sapiens_hsa051441.67683694
34Allograft rejection_Homo sapiens_hsa053301.67141669
35NF-kappa B signaling pathway_Homo sapiens_hsa040641.63011125
36Graft-versus-host disease_Homo sapiens_hsa053321.59422690
37RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.58108696
38Notch signaling pathway_Homo sapiens_hsa043301.57314180
39Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.56984753
40Bile secretion_Homo sapiens_hsa049761.56146256
41Lysosome_Homo sapiens_hsa041421.56063211
42Cysteine and methionine metabolism_Homo sapiens_hsa002701.55878161
43Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.55815133
44Pentose phosphate pathway_Homo sapiens_hsa000301.54741444
45Fructose and mannose metabolism_Homo sapiens_hsa000511.52110430
46Autoimmune thyroid disease_Homo sapiens_hsa053201.47797482
47Glucagon signaling pathway_Homo sapiens_hsa049221.47428866
48TNF signaling pathway_Homo sapiens_hsa046681.47360019
49Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.47260749
50Complement and coagulation cascades_Homo sapiens_hsa046101.45674073
51Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.44965945
52Toxoplasmosis_Homo sapiens_hsa051451.44518957
53Chronic myeloid leukemia_Homo sapiens_hsa052201.43704049
54Glycerolipid metabolism_Homo sapiens_hsa005611.42651134
55Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.36192198
56Viral myocarditis_Homo sapiens_hsa054161.35257512
57Chemokine signaling pathway_Homo sapiens_hsa040621.35185481
58Phagosome_Homo sapiens_hsa041451.33259969
59Influenza A_Homo sapiens_hsa051641.33114781
60Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.32258423
61Butanoate metabolism_Homo sapiens_hsa006501.30997371
62Hepatitis C_Homo sapiens_hsa051601.29116419
63Peroxisome_Homo sapiens_hsa041461.28573500
64Salmonella infection_Homo sapiens_hsa051321.26159370
65Hepatitis B_Homo sapiens_hsa051611.24015099
66Non-small cell lung cancer_Homo sapiens_hsa052231.23239761
67Carbohydrate digestion and absorption_Homo sapiens_hsa049731.22728250
68Primary immunodeficiency_Homo sapiens_hsa053401.22454232
69Leukocyte transendothelial migration_Homo sapiens_hsa046701.22426949
70Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.22395118
71Herpes simplex infection_Homo sapiens_hsa051681.21923854
72Chemical carcinogenesis_Homo sapiens_hsa052041.19097642
73Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.19096070
74Shigellosis_Homo sapiens_hsa051311.18954942
75Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.17731870
76NOD-like receptor signaling pathway_Homo sapiens_hsa046211.17659689
77T cell receptor signaling pathway_Homo sapiens_hsa046601.16961674
78Measles_Homo sapiens_hsa051621.16462657
79Apoptosis_Homo sapiens_hsa042101.16431178
80Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.15525930
81Pancreatic cancer_Homo sapiens_hsa052121.14252261
82Antigen processing and presentation_Homo sapiens_hsa046121.14121594
83Neurotrophin signaling pathway_Homo sapiens_hsa047221.13201224
84Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.12678947
85Pertussis_Homo sapiens_hsa051331.11639256
86Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.11286322
87Drug metabolism - other enzymes_Homo sapiens_hsa009831.09604064
88Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.07435862
89Maturity onset diabetes of the young_Homo sapiens_hsa049501.06934887
90Phenylalanine metabolism_Homo sapiens_hsa003601.05837331
91Hematopoietic cell lineage_Homo sapiens_hsa046401.05091763
92Endocytosis_Homo sapiens_hsa041441.05015170
93Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.04047662
94ABC transporters_Homo sapiens_hsa020101.03534653
95Rheumatoid arthritis_Homo sapiens_hsa053231.02982155
96beta-Alanine metabolism_Homo sapiens_hsa004101.01842075
97Adipocytokine signaling pathway_Homo sapiens_hsa049201.01473639
98alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.00437490
99Jak-STAT signaling pathway_Homo sapiens_hsa046300.99519964
100AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.98422095
101Endometrial cancer_Homo sapiens_hsa052130.97624615
102Legionellosis_Homo sapiens_hsa051340.95852962
103Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.95169999
104Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.93997620
105Asthma_Homo sapiens_hsa053100.93953769
106Starch and sucrose metabolism_Homo sapiens_hsa005000.93246210
107Prolactin signaling pathway_Homo sapiens_hsa049170.92789980
108Insulin resistance_Homo sapiens_hsa049310.92602394
109Intestinal immune network for IgA production_Homo sapiens_hsa046720.92508618
110Glycerophospholipid metabolism_Homo sapiens_hsa005640.92080608
111Type I diabetes mellitus_Homo sapiens_hsa049400.91083152
112Phospholipase D signaling pathway_Homo sapiens_hsa040720.89902541
113Linoleic acid metabolism_Homo sapiens_hsa005910.89563555
114African trypanosomiasis_Homo sapiens_hsa051430.89401243
115Sphingolipid signaling pathway_Homo sapiens_hsa040710.89351247
116Galactose metabolism_Homo sapiens_hsa000520.85323516
117Epstein-Barr virus infection_Homo sapiens_hsa051690.79782217
118Staphylococcus aureus infection_Homo sapiens_hsa051500.79379698
119Cyanoamino acid metabolism_Homo sapiens_hsa004600.77682754
120* Renal cell carcinoma_Homo sapiens_hsa052110.76004384
121Folate biosynthesis_Homo sapiens_hsa007900.75885208
122AMPK signaling pathway_Homo sapiens_hsa041520.75752001
123Central carbon metabolism in cancer_Homo sapiens_hsa052300.74578332
124HTLV-I infection_Homo sapiens_hsa051660.73763348
125Amoebiasis_Homo sapiens_hsa051460.72408562
126Viral carcinogenesis_Homo sapiens_hsa052030.72376276
127GnRH signaling pathway_Homo sapiens_hsa049120.71201710
128Platelet activation_Homo sapiens_hsa046110.71028526
129Colorectal cancer_Homo sapiens_hsa052100.70839579
130ErbB signaling pathway_Homo sapiens_hsa040120.69497067
131Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.68219294
132Sulfur metabolism_Homo sapiens_hsa009200.67654224
133Arginine and proline metabolism_Homo sapiens_hsa003300.67575613
134Histidine metabolism_Homo sapiens_hsa003400.65784087
135Choline metabolism in cancer_Homo sapiens_hsa052310.64886468
136Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.64698283
137Glutathione metabolism_Homo sapiens_hsa004800.62569099
138Insulin signaling pathway_Homo sapiens_hsa049100.60977580
139Phosphatidylinositol signaling system_Homo sapiens_hsa040700.59121291
140Retinol metabolism_Homo sapiens_hsa008300.58846143
141Vibrio cholerae infection_Homo sapiens_hsa051100.57294517
142Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.56492849
143Caffeine metabolism_Homo sapiens_hsa002320.56255674
144Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.56208993
145Tyrosine metabolism_Homo sapiens_hsa003500.55739633
146Glioma_Homo sapiens_hsa052140.55323697
147Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.55267733
148Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.53420746
149Dorso-ventral axis formation_Homo sapiens_hsa043200.52903053
150VEGF signaling pathway_Homo sapiens_hsa043700.52091545
151Lysine degradation_Homo sapiens_hsa003100.52053626
152Cardiac muscle contraction_Homo sapiens_hsa042600.51589244
153Rap1 signaling pathway_Homo sapiens_hsa040150.51497215
154Inositol phosphate metabolism_Homo sapiens_hsa005620.51136582
155Synaptic vesicle cycle_Homo sapiens_hsa047210.50914327
156Prion diseases_Homo sapiens_hsa050200.50342018
157MAPK signaling pathway_Homo sapiens_hsa040100.49925188
158Longevity regulating pathway - mammal_Homo sapiens_hsa042110.46256402
159Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.41333449
160Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.40194447
161Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.39962367
162Glycosaminoglycan degradation_Homo sapiens_hsa005310.38894954
163Vitamin digestion and absorption_Homo sapiens_hsa049770.35702434
164Steroid hormone biosynthesis_Homo sapiens_hsa001400.35218731
165Metabolic pathways_Homo sapiens_hsa011000.33140112
166Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.32687523
167mTOR signaling pathway_Homo sapiens_hsa041500.30998360
168Insulin secretion_Homo sapiens_hsa049110.25629600
169Estrogen signaling pathway_Homo sapiens_hsa049150.24767914
170B cell receptor signaling pathway_Homo sapiens_hsa046620.24344656
171Thyroid hormone synthesis_Homo sapiens_hsa049180.22924534
172Acute myeloid leukemia_Homo sapiens_hsa052210.22021184
173Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.21306914
174Oocyte meiosis_Homo sapiens_hsa041140.19814205
175Thyroid hormone signaling pathway_Homo sapiens_hsa049190.17691582
176Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.17134890
177Protein digestion and absorption_Homo sapiens_hsa049740.16827550
178Type II diabetes mellitus_Homo sapiens_hsa049300.15417847
179Bladder cancer_Homo sapiens_hsa052190.13286951

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