RXFP2

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 GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cilium or flagellum-dependent cell motility (GO:0001539)8.34822729
2cellular extravasation (GO:0045123)7.54938634
3sperm motility (GO:0030317)7.42107645
4epithelial cilium movement (GO:0003351)7.37521095
5acrosome reaction (GO:0007340)7.19945155
6neutrophil mediated immunity (GO:0002446)7.00491499
7fusion of sperm to egg plasma membrane (GO:0007342)6.86024809
8epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)6.77963228
9axonemal dynein complex assembly (GO:0070286)6.71934627
10motile cilium assembly (GO:0044458)6.70131826
11response to peptidoglycan (GO:0032494)6.48162660
12piRNA metabolic process (GO:0034587)6.44817656
13regulation of cilium movement (GO:0003352)6.32309032
14acrosome assembly (GO:0001675)6.30751553
15cilium movement (GO:0003341)6.08388321
16microglial cell activation (GO:0001774)6.06576890
17neutrophil activation involved in immune response (GO:0002283)6.00790009
18multicellular organism reproduction (GO:0032504)5.86536020
19sperm-egg recognition (GO:0035036)5.81146652
20positive regulation of gamma-delta T cell activation (GO:0046645)5.80990165
21myeloid leukocyte mediated immunity (GO:0002444)5.79451380
22negative regulation of growth of symbiont in host (GO:0044130)5.68590219
23negative regulation of growth of symbiont involved in interaction with host (GO:0044146)5.68590219
24modulation of growth of symbiont involved in interaction with host (GO:0044144)5.68590219
25regulation of growth of symbiont in host (GO:0044126)5.68590219
26positive regulation of interleukin-8 biosynthetic process (GO:0045416)5.64589149
27positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)5.63485706
28male meiosis (GO:0007140)5.59774947
29spermatid development (GO:0007286)5.53085333
30plasma membrane fusion (GO:0045026)5.44003678
31cell wall macromolecule catabolic process (GO:0016998)5.42336404
32cell wall macromolecule metabolic process (GO:0044036)5.42336404
33binding of sperm to zona pellucida (GO:0007339)5.40627066
34disruption of cells of other organism involved in symbiotic interaction (GO:0051818)5.30437221
35killing of cells in other organism involved in symbiotic interaction (GO:0051883)5.30437221
36DNA methylation involved in gamete generation (GO:0043046)5.30428690
37cell-cell recognition (GO:0009988)5.13848849
38synaptonemal complex organization (GO:0070193)5.06035874
39regulation of interleukin-8 biosynthetic process (GO:0045414)4.95920778
40synaptonemal complex assembly (GO:0007130)4.90498569
41reproduction (GO:0000003)4.79137783
42negative regulation of phagocytosis (GO:0050765)4.77929746
43dopamine biosynthetic process (GO:0042416)4.75695232
44single fertilization (GO:0007338)4.74926908
45respiratory burst (GO:0045730)4.74451269
46positive regulation by symbiont of host defense response (GO:0052509)4.70328631
47modulation by symbiont of host defense response (GO:0052031)4.70328631
48modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.70328631
49modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.70328631
50positive regulation by organism of defense response of other organism involved in symbiotic interact4.70328631
51modulation by symbiont of host immune response (GO:0052553)4.70328631
52negative regulation of interleukin-8 production (GO:0032717)4.69866855
53macrophage activation (GO:0042116)4.67074578
54positive regulation of respiratory burst (GO:0060267)4.62010411
55detection of other organism (GO:0098543)4.56539226
56macrophage activation involved in immune response (GO:0002281)4.52740632
57calcium ion-dependent exocytosis (GO:0017156)4.51254648
58microtubule severing (GO:0051013)4.49743457
59response to muramyl dipeptide (GO:0032495)4.48842218
60ventricular system development (GO:0021591)4.38278749
61atrial cardiac muscle cell action potential (GO:0086014)4.32995333
62microtubule depolymerization (GO:0007019)4.31996567
63regulation of tumor necrosis factor biosynthetic process (GO:0042534)4.29699517
64positive regulation of mast cell activation (GO:0033005)4.26284089
65macrophage differentiation (GO:0030225)4.24526871
66regulation of gamma-delta T cell activation (GO:0046643)4.24248363
67regulation of mast cell degranulation (GO:0043304)4.15873660
68negative regulation of erythrocyte differentiation (GO:0045647)4.14264568
69regulation of B cell receptor signaling pathway (GO:0050855)4.10814019
70protein polyglutamylation (GO:0018095)4.06188857
71response to fungus (GO:0009620)4.02487644
72reactive oxygen species biosynthetic process (GO:1903409)4.02483154
73positive regulation of B cell differentiation (GO:0045579)4.00011247
74defense response to fungus (GO:0050832)3.99068788
75detection of bacterium (GO:0016045)3.98316085
76neutrophil activation (GO:0042119)3.95464844
77regulation of myeloid leukocyte mediated immunity (GO:0002886)3.89272909
78fertilization (GO:0009566)3.88690504
79negative regulation of inclusion body assembly (GO:0090084)3.87913046
80detection of molecule of bacterial origin (GO:0032490)3.87853373
81regulation of mast cell activation involved in immune response (GO:0033006)3.84870734
82positive regulation of mast cell activation involved in immune response (GO:0033008)3.83893855
83positive regulation of mast cell degranulation (GO:0043306)3.83893855
84sperm capacitation (GO:0048240)3.83454716
85myeloid cell activation involved in immune response (GO:0002275)3.82445751
86regulation of chemokine biosynthetic process (GO:0045073)3.80887544
87neuron cell-cell adhesion (GO:0007158)3.80346094
88regulation of mast cell activation (GO:0033003)3.79630063
89regulation of gamma-delta T cell differentiation (GO:0045586)3.74071498
90regulation of MHC class II biosynthetic process (GO:0045346)3.73578787
91regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.71778651
92negative regulation of interleukin-12 production (GO:0032695)3.67096413
93opsonization (GO:0008228)3.65249279
94B cell receptor signaling pathway (GO:0050853)3.62896478
95detection of external biotic stimulus (GO:0098581)3.62811143
96mating behavior (GO:0007617)3.56913578
97positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.54584453
98spermatogenesis (GO:0007283)3.54194995
99male gamete generation (GO:0048232)3.52174760
100regulation of leukocyte degranulation (GO:0043300)3.50708966
101chromosome organization involved in meiosis (GO:0070192)3.50577394
102regulation of microtubule-based movement (GO:0060632)3.49422924
103cell recognition (GO:0008037)3.48940493
104detection of biotic stimulus (GO:0009595)3.48710030
105granulocyte activation (GO:0036230)3.48180442
106negative regulation of T cell mediated immunity (GO:0002710)3.43604298
107antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.39705586
108membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.36653620
109regulation of B cell differentiation (GO:0045577)3.35491353
110positive regulation of myeloid leukocyte mediated immunity (GO:0002888)3.34566965
111negative regulation of cell killing (GO:0031342)3.33918452
112negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.33918452
113male meiosis I (GO:0007141)3.32072055
114negative regulation of complement activation (GO:0045916)3.30274155
115gamete generation (GO:0007276)3.27516717
116killing of cells of other organism (GO:0031640)3.24830407
117disruption of cells of other organism (GO:0044364)3.24830407
118negative regulation of chemokine production (GO:0032682)3.24806465
119positive regulation of macrophage activation (GO:0043032)3.20368599
120germ cell development (GO:0007281)3.20238713
121response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.17026595
122response to host immune response (GO:0052572)3.17026595
123regulation of regulated secretory pathway (GO:1903305)3.16201273
124leukocyte degranulation (GO:0043299)3.16009481
125regulation of interferon-beta biosynthetic process (GO:0045357)3.13326360
126axonal fasciculation (GO:0007413)3.12023036
127* cellular process involved in reproduction in multicellular organism (GO:0022412)3.10124383
128meiotic nuclear division (GO:0007126)3.07216671
129immunoglobulin mediated immune response (GO:0016064)3.04227642
130protein K11-linked deubiquitination (GO:0035871)3.01873887
131negative regulation of lymphocyte mediated immunity (GO:0002707)3.01340953
132protein localization to cilium (GO:0061512)2.96481634
133intraciliary transport (GO:0042073)2.93937244
134regulation of tolerance induction (GO:0002643)2.93511694
135microtubule polymerization or depolymerization (GO:0031109)2.92615681
136antigen processing and presentation of endogenous antigen (GO:0019883)2.92564170
137innate immune response in mucosa (GO:0002227)2.92127663
138lipopolysaccharide-mediated signaling pathway (GO:0031663)2.91189282
139positive regulation of granulocyte differentiation (GO:0030854)2.91000934
140positive regulation of interleukin-1 production (GO:0032732)2.90933556
141negative regulation of interleukin-6 production (GO:0032715)2.90024506
142regulation of platelet aggregation (GO:0090330)2.89729594
143regulation of chromatin binding (GO:0035561)2.87217339
144positive regulation of interleukin-1 beta production (GO:0032731)2.86471450
145negative regulation of axon extension involved in axon guidance (GO:0048843)2.85799321
146leukocyte aggregation (GO:0070486)2.85608632
147myeloid leukocyte activation (GO:0002274)2.85108350
148definitive hemopoiesis (GO:0060216)2.83522679
149leukocyte mediated cytotoxicity (GO:0001909)2.81895541
150synaptic vesicle exocytosis (GO:0016079)2.81250185
151organic cation transport (GO:0015695)2.81150457
152cilium morphogenesis (GO:0060271)2.80833207
153regulation of macrophage cytokine production (GO:0010935)2.80784231
154defense response to protozoan (GO:0042832)2.80716163
155positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.80518392
156Arp2/3 complex-mediated actin nucleation (GO:0034314)2.80147957
157positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.79729594
158glutamate secretion (GO:0014047)2.79246101
159neuron recognition (GO:0008038)2.78724427
160cGMP biosynthetic process (GO:0006182)2.78487846
161membrane depolarization during action potential (GO:0086010)2.78198368
162response to host defenses (GO:0052200)2.78118520
163response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.78118520
164response to host (GO:0075136)2.78118520
165mannose metabolic process (GO:0006013)2.77557862
166natural killer cell activation involved in immune response (GO:0002323)2.76723421
167positive regulation of tumor necrosis factor production (GO:0032760)2.76309498
168meiotic cell cycle (GO:0051321)2.75274681
169regulation of inclusion body assembly (GO:0090083)2.73968936
170cilium organization (GO:0044782)2.73611410
171nucleoside diphosphate phosphorylation (GO:0006165)2.71391337
172cilium assembly (GO:0042384)2.71113373
173serotonin receptor signaling pathway (GO:0007210)2.69050478
174catecholamine biosynthetic process (GO:0042423)2.66187698
175catechol-containing compound biosynthetic process (GO:0009713)2.66187698
176regulation of dopamine metabolic process (GO:0042053)2.62897534
177regulation of catecholamine metabolic process (GO:0042069)2.62897534
178axoneme assembly (GO:0035082)2.62724318
179axon extension involved in axon guidance (GO:0048846)2.60232706
180neuron projection extension involved in neuron projection guidance (GO:1902284)2.60232706
181polyol catabolic process (GO:0046174)2.58225063
182negative regulation of protein activation cascade (GO:2000258)2.57557528
183protein localization to synapse (GO:0035418)2.57351510
184GTP biosynthetic process (GO:0006183)2.55119118
185multicellular organismal reproductive process (GO:0048609)2.54367701
186cellular component assembly involved in morphogenesis (GO:0010927)2.53693235
187DNA alkylation (GO:0006305)2.53339565
188DNA methylation (GO:0006306)2.53339565
189cell migration in hindbrain (GO:0021535)2.48192411
190cGMP metabolic process (GO:0046068)2.46943488
191regulation of heart rate by cardiac conduction (GO:0086091)2.45461146
192negative regulation of axon guidance (GO:1902668)2.42084824
193ovulation from ovarian follicle (GO:0001542)2.40738049
194inner ear receptor stereocilium organization (GO:0060122)2.40317879
195negative regulation of neurotransmitter transport (GO:0051589)2.38717472
196ganglion development (GO:0061548)2.38385125
197cranial nerve structural organization (GO:0021604)2.37264065
198microtubule-based movement (GO:0007018)2.36568158

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.89915894
2IRF8_22096565_ChIP-ChIP_GC-B_Human4.98114584
3SCL_19346495_ChIP-Seq_HPC-7_Human4.38797869
4VDR_24763502_ChIP-Seq_THP-1_Human4.07297082
5MECOM_23826213_ChIP-Seq_KASUMI_Mouse4.04687180
6MYB_21317192_ChIP-Seq_ERMYB_Mouse3.83016246
7VDR_21846776_ChIP-Seq_THP-1_Human3.81482438
8IRF8_21731497_ChIP-ChIP_J774_Mouse3.66142659
9BP1_19119308_ChIP-ChIP_Hs578T_Human3.52333391
10SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.41223709
11MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse3.39982403
12GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.36914660
13IRF8_27001747_Chip-Seq_BMDM_Mouse3.22128794
14SPI1_23547873_ChIP-Seq_NB4_Human3.13590331
15FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.10916151
16STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.08358273
17GBX2_23144817_ChIP-Seq_PC3_Human3.04446321
18MYB_26560356_Chip-Seq_TH2_Human2.83286179
19STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.76998467
20RUNX_20019798_ChIP-Seq_JUKART_Human2.70755710
21NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.67867395
22VDR_24787735_ChIP-Seq_THP-1_Human2.59819145
23RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.54585337
24BRD4_27068464_Chip-Seq_AML-cells_Mouse2.48579681
25Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.39560255
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.26881775
27IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.26780704
28TAF15_26573619_Chip-Seq_HEK293_Human2.26283819
29ZFP57_27257070_Chip-Seq_ESCs_Mouse2.25192235
30SPI1_23127762_ChIP-Seq_K562_Human2.23162048
31TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.15200863
32IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.12282246
33MYB_26560356_Chip-Seq_TH1_Human2.10910576
34FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.10407582
35RUNX1_22412390_ChIP-Seq_EML_Mouse2.09546368
36EGR1_19374776_ChIP-ChIP_THP-1_Human1.99678969
37SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.97557596
38CBX2_27304074_Chip-Seq_ESCs_Mouse1.96544740
39SMAD_19615063_ChIP-ChIP_OVARY_Human1.95020852
40BMI1_23680149_ChIP-Seq_NPCS_Mouse1.95001673
41STAT4_19710469_ChIP-ChIP_TH1__Mouse1.90346239
42CTBP2_25329375_ChIP-Seq_LNCAP_Human1.87831962
43GATA3_27048872_Chip-Seq_THYMUS_Human1.85337693
44SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.84606723
45UTX_26944678_Chip-Seq_JUKART_Human1.82872171
46MAF_26560356_Chip-Seq_TH1_Human1.82808447
47JARID2_20064375_ChIP-Seq_MESCs_Mouse1.81772751
48NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.79836404
49PCGF2_27294783_Chip-Seq_ESCs_Mouse1.79336246
50VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.75713251
51SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.75321938
52EZH2_27304074_Chip-Seq_ESCs_Mouse1.74497169
53GATA1_26923725_Chip-Seq_HPCs_Mouse1.71026367
54* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.70783347
55E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.69517909
56FLI1_27457419_Chip-Seq_LIVER_Mouse1.68980082
57REST_21632747_ChIP-Seq_MESCs_Mouse1.68477742
58FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.66856666
59GATA3_26560356_Chip-Seq_TH2_Human1.66598356
60GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.66172747
61RNF2_18974828_ChIP-Seq_MESCs_Mouse1.65770000
62EZH2_18974828_ChIP-Seq_MESCs_Mouse1.65770000
63SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.65706887
64LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.63666110
65SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.63206064
66GATA2_22383799_ChIP-Seq_G1ME_Mouse1.62031766
67SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.61618153
68RNF2_27304074_Chip-Seq_NSC_Mouse1.60881432
69PU_27001747_Chip-Seq_BMDM_Mouse1.60730338
70SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.60181756
71SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.60129206
72LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.59612618
73TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.59319669
74MTF2_20144788_ChIP-Seq_MESCs_Mouse1.59222468
75MYC_22102868_ChIP-Seq_BL_Human1.57466018
76VDR_22108803_ChIP-Seq_LS180_Human1.55649114
77EZH2_27294783_Chip-Seq_ESCs_Mouse1.53134231
78MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.52910630
79STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.52684478
80EED_16625203_ChIP-ChIP_MESCs_Mouse1.50871128
81NANOG_18555785_Chip-Seq_ESCs_Mouse1.50746753
82SUZ12_27294783_Chip-Seq_NPCs_Mouse1.49698309
83NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.48360233
84NFE2_27457419_Chip-Seq_LIVER_Mouse1.47423527
85SUZ12_27294783_Chip-Seq_ESCs_Mouse1.47372887
86P300_19829295_ChIP-Seq_ESCs_Human1.46893478
87CDX2_19796622_ChIP-Seq_MESCs_Mouse1.46735471
88RNF2_27304074_Chip-Seq_ESCs_Mouse1.46281000
89PCGF2_27294783_Chip-Seq_NPCs_Mouse1.46253878
90PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.46088089
91TCF7_22412390_ChIP-Seq_EML_Mouse1.45832153
92EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.44461828
93CTBP1_25329375_ChIP-Seq_LNCAP_Human1.44395686
94GATA1_19941827_ChIP-Seq_MEL_Mouse1.43421800
95MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.43094360
96FUS_26573619_Chip-Seq_HEK293_Human1.43054922
97CMYC_18555785_Chip-Seq_ESCs_Mouse1.42909314
98P53_22387025_ChIP-Seq_ESCs_Mouse1.42340641
99P300_18555785_Chip-Seq_ESCs_Mouse1.42326148
100SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.42311362
101SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41125597
102SMAD3_21741376_ChIP-Seq_EPCs_Human1.41038948
103CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.40614063
104SMAD4_21799915_ChIP-Seq_A2780_Human1.40096572
105TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.38822108
106* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.38705489
107EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.38444809
108GATA1_22383799_ChIP-Seq_G1ME_Mouse1.34949681
109GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.34816163
110CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.34339714
111DROSHA_22980978_ChIP-Seq_HELA_Human1.34158050
112ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.34153943
113JARID2_20075857_ChIP-Seq_MESCs_Mouse1.33717627
114E2F1_18555785_Chip-Seq_ESCs_Mouse1.33521947
115KDM2B_26808549_Chip-Seq_REH_Human1.33130745
116CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.31979013
117TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.31362609
118* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.31270431
119RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.30800007
120TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.30567814
121POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.30567814
122MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.30422487
123SUZ12_18555785_Chip-Seq_ESCs_Mouse1.28574592
124OCT4_18555785_Chip-Seq_ESCs_Mouse1.28307185
125RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.28101706
126KLF4_18555785_Chip-Seq_ESCs_Mouse1.26964296
127CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.26207174
128* CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.26032225
129CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.25707400
130SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.25487365
131ZNF274_21170338_ChIP-Seq_K562_Hela1.25446909
132SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24873256
133TAL1_26923725_Chip-Seq_HPCs_Mouse1.24611104
134STAT3_18555785_Chip-Seq_ESCs_Mouse1.22605793
135NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.22442164
136RUNX1_27457419_Chip-Seq_LIVER_Mouse1.22014438
137TCF4_23295773_ChIP-Seq_U87_Human1.21971990
138KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.21831240
139BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.21343403
140PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.21244261
141RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.21224665
142SOX2_18555785_Chip-Seq_ESCs_Mouse1.20123818
143TOP2B_26459242_ChIP-Seq_MCF-7_Human1.20080367
144EZH2_27294783_Chip-Seq_NPCs_Mouse1.16285621
145PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.15916113
146EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.15822905
147AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.15047730
148GATA1_19941826_ChIP-Seq_K562_Human1.14767320
149MAF_26560356_Chip-Seq_TH2_Human1.14562931
150GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.14356609
151ER_23166858_ChIP-Seq_MCF-7_Human1.14025508
152* STAT1_17558387_ChIP-Seq_HELA_Human1.13565965
153NMYC_18555785_Chip-Seq_ESCs_Mouse1.13493033
154KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.13266816
155SMAD1_18555785_Chip-Seq_ESCs_Mouse1.12721029
156TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.12657801
157ZFX_18555785_Chip-Seq_ESCs_Mouse1.11934638
158OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.11079541
159BCAT_22108803_ChIP-Seq_LS180_Human1.10936956
160GATA1_22025678_ChIP-Seq_K562_Human1.10361614
161CTCF_18555785_Chip-Seq_ESCs_Mouse1.10307966
162CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.09811926
163MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.09609207
164RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.09341881
165GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.08639192
166VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.07915322
167FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.06796952
168CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.06678547
169PU1_27457419_Chip-Seq_LIVER_Mouse1.06418765
170NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.05729934
171ESRRB_18555785_Chip-Seq_ESCs_Mouse1.04438743
172ELF1_17652178_ChIP-ChIP_JURKAT_Human1.04424834
173SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.03904099
174KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.03361251
175CRX_20693478_ChIP-Seq_RETINA_Mouse1.03242705
176TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02149466
177STAT3_23295773_ChIP-Seq_U87_Human1.02133808
178* RUNX2_22187159_ChIP-Seq_PCA_Human1.01800674
179GATA2_19941826_ChIP-Seq_K562_Human0.97811153
180IGF1R_20145208_ChIP-Seq_DFB_Human0.96973488
181SPI1_20517297_ChIP-Seq_HL60_Human0.96943658
182ETS1_22383799_ChIP-Seq_G1ME_Mouse0.96520462
183FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.96270451
184STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.96170545
185RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95548346
186PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.95258785
187KDM2B_26808549_Chip-Seq_DND41_Human0.94982455
188SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.90193362
189KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.86035441
190KDM2B_26808549_Chip-Seq_SUP-B15_Human0.82304145
191PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.80540060
192* GATA1_19941827_ChIP-Seq_MEL86_Mouse0.80150045
193RXR_22108803_ChIP-Seq_LS180_Human0.77050255
194CEBPB_22108803_ChIP-Seq_LS180_Human0.76153841
195SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.73092528
196IKZF1_21737484_ChIP-ChIP_HCT116_Human0.72894320
197FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.71533615

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization6.94882859
2MP0003303_peritoneal_inflammation6.15443636
3MP0001835_abnormal_antigen_presentation3.33557548
4MP0003436_decreased_susceptibility_to3.20279971
5MP0002419_abnormal_innate_immunity3.17007937
6MP0003283_abnormal_digestive_organ3.08178758
7MP0003724_increased_susceptibility_to3.01655017
8MP0003880_abnormal_central_pattern2.98582590
9* MP0003698_abnormal_male_reproductive2.93517673
10MP0004270_analgesia2.82421224
11MP0008877_abnormal_DNA_methylation2.76729308
12MP0003172_abnormal_lysosome_physiology2.76695720
13MP0005025_abnormal_response_to2.67614146
14MP0002009_preneoplasia2.65854506
15MP0005464_abnormal_platelet_physiology2.64945114
16MP0004859_abnormal_synaptic_plasticity2.55911752
17* MP0001929_abnormal_gametogenesis2.49287974
18MP0002254_reproductive_system_inflammat2.47677201
19MP0006082_CNS_inflammation2.45165816
20MP0003656_abnormal_erythrocyte_physiolo2.40424410
21MP0000015_abnormal_ear_pigmentation2.38910000
22MP0002132_abnormal_respiratory_system2.35739663
23MP0009785_altered_susceptibility_to2.34684462
24MP0001905_abnormal_dopamine_level2.34574452
25MP0001851_eye_inflammation2.34493052
26MP0001800_abnormal_humoral_immune2.27667417
27MP0003828_pulmonary_edema2.27260852
28MP0003123_paternal_imprinting2.26110595
29MP0005000_abnormal_immune_tolerance2.23282555
30MP0002166_altered_tumor_susceptibility2.22527622
31MP0001485_abnormal_pinna_reflex2.19547756
32MP0002420_abnormal_adaptive_immunity2.19544955
33MP0001819_abnormal_immune_cell2.15710252
34MP0002148_abnormal_hypersensitivity_rea2.09351026
35MP0002452_abnormal_antigen_presenting2.04834558
36MP0003183_abnormal_peptide_metabolism2.04370621
37MP0005174_abnormal_tail_pigmentation2.04150423
38MP0003635_abnormal_synaptic_transmissio2.03316478
39MP0002723_abnormal_immune_serum1.98996290
40MP0001486_abnormal_startle_reflex1.98341895
41MP0001533_abnormal_skeleton_physiology1.95131278
42MP0004742_abnormal_vestibular_system1.91412028
43MP0005623_abnormal_meninges_morphology1.90679360
44MP0001529_abnormal_vocalization1.89653833
45* MP0002210_abnormal_sex_determination1.86972731
46MP0002396_abnormal_hematopoietic_system1.86062873
47MP0009764_decreased_sensitivity_to1.77329087
48MP0003763_abnormal_thymus_physiology1.76437360
49* MP0002160_abnormal_reproductive_system1.74608525
50MP0009278_abnormal_bone_marrow1.73179276
51MP0000685_abnormal_immune_system1.72306733
52MP0006276_abnormal_autonomic_nervous1.70608090
53MP0002398_abnormal_bone_marrow1.70446715
54MP0009046_muscle_twitch1.70300275
55MP0004883_abnormal_blood_vessel1.68717994
56MP0000462_abnormal_digestive_system1.67911520
57MP0001545_abnormal_hematopoietic_system1.67162675
58MP0005397_hematopoietic_system_phenotyp1.67162675
59* MP0002161_abnormal_fertility/fecundity1.65759090
60MP0005671_abnormal_response_to1.65678147
61MP0001984_abnormal_olfaction1.64875482
62MP0000569_abnormal_digit_pigmentation1.64695783
63MP0000465_gastrointestinal_hemorrhage1.63720913
64MP0001845_abnormal_inflammatory_respons1.63503488
65MP0008260_abnormal_autophagy1.62924864
66MP0000716_abnormal_immune_system1.61831959
67MP0005164_abnormal_response_to1.60924444
68MP0002405_respiratory_system_inflammati1.60004291
69MP0002102_abnormal_ear_morphology1.58918966
70MP0005409_darkened_coat_color1.58677234
71MP0002184_abnormal_innervation1.57700515
72MP0002064_seizures1.56953241
73MP0002572_abnormal_emotion/affect_behav1.56420084
74MP0001501_abnormal_sleep_pattern1.56338937
75MP0000372_irregular_coat_pigmentation1.55870271
76MP0008789_abnormal_olfactory_epithelium1.55686550
77MP0005075_abnormal_melanosome_morpholog1.55339891
78* MP0001145_abnormal_male_reproductive1.54475122
79MP0010155_abnormal_intestine_physiology1.54381458
80MP0002063_abnormal_learning/memory/cond1.53060109
81MP0009745_abnormal_behavioral_response1.52028490
82MP0002722_abnormal_immune_system1.50974506
83MP0005499_abnormal_olfactory_system1.50400348
84MP0005394_taste/olfaction_phenotype1.50400348
85* MP0000653_abnormal_sex_gland1.49052798
86MP0005058_abnormal_lysosome_morphology1.48811359
87MP0005387_immune_system_phenotype1.47134566
88MP0001790_abnormal_immune_system1.47134566
89MP0000778_abnormal_nervous_system1.45784809
90MP0003300_gastrointestinal_ulcer1.44140902
91MP0002006_tumorigenesis1.43747805
92MP0008438_abnormal_cutaneous_collagen1.42308101
93MP0001188_hyperpigmentation1.40900017
94MP0002653_abnormal_ependyma_morphology1.40723090
95MP0002557_abnormal_social/conspecific_i1.39943797
96MP0001664_abnormal_digestion1.38127460
97MP0000689_abnormal_spleen_morphology1.37698343
98MP0005360_urolithiasis1.36918390
99MP0002837_dystrophic_cardiac_calcinosis1.35699639
100MP0001853_heart_inflammation1.35678804
101MP0002429_abnormal_blood_cell1.34513007
102MP0002734_abnormal_mechanical_nocicepti1.32720989
103MP0002067_abnormal_sensory_capabilities1.29115973
104MP0004510_myositis1.28018018
105MP0004808_abnormal_hematopoietic_stem1.23495205
106MP0001293_anophthalmia1.23254859
107MP0001986_abnormal_taste_sensitivity1.22311243
108MP0002822_catalepsy1.21833208
109MP0005551_abnormal_eye_electrophysiolog1.19073255
110MP0009697_abnormal_copulation1.18469330
111MP0002272_abnormal_nervous_system1.17162628
112MP0009379_abnormal_foot_pigmentation1.17092959
113MP0003136_yellow_coat_color1.15874602
114MP0009333_abnormal_splenocyte_physiolog1.15393456
115MP0008469_abnormal_protein_level1.14154937
116MP0000703_abnormal_thymus_morphology1.13778666
117MP0002998_abnormal_bone_remodeling1.13420928
118MP0003806_abnormal_nucleotide_metabolis1.13135144
119* MP0005389_reproductive_system_phenotype1.12980347
120MP0001963_abnormal_hearing_physiology1.11253697
121MP0005390_skeleton_phenotype1.09945808
122MP0004947_skin_inflammation1.07978515
123MP0008004_abnormal_stomach_pH1.07200049
124MP0003075_altered_response_to1.06337506
125MP0006292_abnormal_olfactory_placode1.05604701
126MP0004147_increased_porphyrin_level1.02540563
127MP0001440_abnormal_grooming_behavior1.02432326
128MP0004858_abnormal_nervous_system1.02239861
129MP0008569_lethality_at_weaning1.00264086
130MP0002282_abnormal_trachea_morphology0.99435649
131MP0003191_abnormal_cellular_cholesterol0.98325377
132MP0002882_abnormal_neuron_morphology0.96324045
133MP0003315_abnormal_perineum_morphology0.95683092
134MP0003942_abnormal_urinary_system0.95512109
135MP0003866_abnormal_defecation0.95494004
136MP0000026_abnormal_inner_ear0.95310686
137MP0000534_abnormal_ureter_morphology0.95207829
138MP0005386_behavior/neurological_phenoty0.95151101
139MP0004924_abnormal_behavior0.95151101
140MP0000751_myopathy0.94240397
141MP0001968_abnormal_touch/_nociception0.94224311
142MP0004484_altered_response_of0.93716232
143MP0000858_altered_metastatic_potential0.93602187
144MP0001663_abnormal_digestive_system0.91617570
145MP0001765_abnormal_ion_homeostasis0.90458314
146MP0003385_abnormal_body_wall0.89757844
147MP0004381_abnormal_hair_follicle0.89721112
148MP0000343_altered_response_to0.89121989
149MP0005166_decreased_susceptibility_to0.87543959
150MP0004134_abnormal_chest_morphology0.87465057
151MP0001346_abnormal_lacrimal_gland0.87163674
152MP0002752_abnormal_somatic_nervous0.86699384
153MP0005423_abnormal_somatic_nervous0.85556226
154MP0002095_abnormal_skin_pigmentation0.84624440
155MP0002233_abnormal_nose_morphology0.84208333
156MP0003115_abnormal_respiratory_system0.83718829
157MP0003121_genomic_imprinting0.83500863
158MP0009250_abnormal_appendicular_skeleto0.83494244
159MP0000049_abnormal_middle_ear0.82571820
160MP0000955_abnormal_spinal_cord0.82499901
161MP0003632_abnormal_nervous_system0.82000504
162MP0003329_amyloid_beta_deposits0.81685240
163MP0003690_abnormal_glial_cell0.81374863
164MP0002152_abnormal_brain_morphology0.81295711
165MP0002736_abnormal_nociception_after0.80464910
166MP0000249_abnormal_blood_vessel0.79748334
167MP0002066_abnormal_motor_capabilities/c0.79508751
168MP0003122_maternal_imprinting0.78906116
169MP0004811_abnormal_neuron_physiology0.77924855
170MP0001502_abnormal_circadian_rhythm0.75805335
171MP0002332_abnormal_exercise_endurance0.75494551
172MP0002733_abnormal_thermal_nociception0.74535675
173MP0005376_homeostasis/metabolism_phenot0.73848625
174MP0009763_increased_sensitivity_to0.73758066
175MP0002735_abnormal_chemical_nociception0.73111017
176MP0000631_abnormal_neuroendocrine_gland0.72599298
177MP0000566_synostosis0.71651870
178MP0002060_abnormal_skin_morphology0.70410128
179MP0004272_abnormal_basement_membrane0.69286269
180MP0003795_abnormal_bone_structure0.68496940
181MP0003252_abnormal_bile_duct0.68407915
182MP0000604_amyloidosis0.68275707
183MP0001177_atelectasis0.68269874
184MP0003950_abnormal_plasma_membrane0.67811258
185MP0004130_abnormal_muscle_cell0.66619674
186MP0006054_spinal_hemorrhage0.65387622
187MP0000681_abnormal_thyroid_gland0.64948664
188MP0005076_abnormal_cell_differentiation0.62702472
189MP0008874_decreased_physiological_sensi0.61971800
190MP0005388_respiratory_system_phenotype0.61576246
191MP0002133_abnormal_respiratory_system0.61576246
192MP0005266_abnormal_metabolism0.60906625
193MP0002019_abnormal_tumor_incidence0.59723463
194MP0009765_abnormal_xenobiotic_induced0.59028455
195MP0005584_abnormal_enzyme/coenzyme_acti0.58525236
196MP0003638_abnormal_response/metabolism_0.57922458

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)9.74055086
2Dynein arm defect of respiratory motile cilia (HP:0012255)9.65979550
3Absent/shortened dynein arms (HP:0200106)9.65979550
4Abnormal respiratory motile cilium physiology (HP:0012261)6.90924348
5Abnormal respiratory motile cilium morphology (HP:0005938)6.54471948
6Abnormal respiratory epithelium morphology (HP:0012253)6.54471948
7Chronic bronchitis (HP:0004469)6.50679666
8Recurrent bacterial skin infections (HP:0005406)5.93521541
9Amyloidosis (HP:0011034)5.84495270
10Abnormal ciliary motility (HP:0012262)5.83555365
11Recurrent abscess formation (HP:0002722)5.51953085
12Elevated erythrocyte sedimentation rate (HP:0003565)5.40844028
13Rhinitis (HP:0012384)5.22950216
14Myositis (HP:0100614)5.10298568
15Thrombocytosis (HP:0001894)4.79249248
16Chronic obstructive pulmonary disease (HP:0006510)4.51288801
17Obstructive lung disease (HP:0006536)4.51288801
18Orchitis (HP:0100796)4.34669265
19Abnormality of macrophages (HP:0004311)4.31662791
20Optic neuritis (HP:0100653)4.25318908
21Retrobulbar optic neuritis (HP:0100654)4.25318908
22Eczematoid dermatitis (HP:0000976)4.18906714
23Infertility (HP:0000789)4.12099921
24Stomatitis (HP:0010280)3.86940000
25Recurrent skin infections (HP:0001581)3.82951519
26Granulocytopenia (HP:0001913)3.80050716
27Recurrent gram-negative bacterial infections (HP:0005420)3.74879354
28Meningitis (HP:0001287)3.64617573
29Recurrent fungal infections (HP:0002841)3.61005098
30Nephronophthisis (HP:0000090)3.54858097
31Chest pain (HP:0100749)3.54597679
32Recurrent cutaneous fungal infections (HP:0011370)3.48708350
33Chronic mucocutaneous candidiasis (HP:0002728)3.48708350
34Pulmonary infiltrates (HP:0002113)3.46464230
35Vasculitis (HP:0002633)3.43459254
36Hemoptysis (HP:0002105)3.38298006
37Epistaxis (HP:0000421)3.36046326
38Eosinophilia (HP:0001880)3.34133747
39Pulmonary embolism (HP:0002204)3.32698717
40Leukocytosis (HP:0001974)3.32689953
41Abnormal delayed hypersensitivity skin test (HP:0002963)3.29434481
42Spontaneous hematomas (HP:0007420)3.24348296
43Encephalitis (HP:0002383)3.23107128
44Nasal polyposis (HP:0100582)3.21732590
45Periodontitis (HP:0000704)3.20988352
46Gingival bleeding (HP:0000225)3.12960373
47Abnormality of glycolipid metabolism (HP:0010969)3.11695603
48Abnormality of liposaccharide metabolism (HP:0010968)3.11695603
49Abnormality of glycosphingolipid metabolism (HP:0004343)3.11695603
50Keratoconjunctivitis sicca (HP:0001097)3.09391266
51Bronchitis (HP:0012387)3.08065979
52Dysostosis multiplex (HP:0000943)3.06941265
53Prolonged bleeding time (HP:0003010)3.00586326
54Abnormality of the prostate (HP:0008775)3.00358936
55Mediastinal lymphadenopathy (HP:0100721)2.99688203
56Gangrene (HP:0100758)2.92557646
57Keratoconjunctivitis (HP:0001096)2.91212720
58Recurrent viral infections (HP:0004429)2.86800966
59Arterial thrombosis (HP:0004420)2.81559397
60Thoracic kyphosis (HP:0002942)2.80935679
61Gastrointestinal infarctions (HP:0005244)2.75429386
62Bronchiectasis (HP:0002110)2.75393754
63Limb dystonia (HP:0002451)2.74787731
64T lymphocytopenia (HP:0005403)2.72688028
65Increased cerebral lipofuscin (HP:0011813)2.67085653
66Abnormality of T cell number (HP:0011839)2.61945703
67Abnormality of the nasal mucosa (HP:0000433)2.60203132
68Gingivitis (HP:0000230)2.57824895
69Thrombophlebitis (HP:0004418)2.57108504
70Increased neuronal autofluorescent lipopigment (HP:0002074)2.55758988
71Abnormality of eosinophils (HP:0001879)2.54988358
72Urticaria (HP:0001025)2.54844829
73Abnormality of the renal medulla (HP:0100957)2.54158067
74Abnormality of T cells (HP:0002843)2.50568655
75Glomerulopathy (HP:0100820)2.50431285
76Abnormality of T cell physiology (HP:0011840)2.49250034
77Medial flaring of the eyebrow (HP:0010747)2.46519750
78Acute lymphatic leukemia (HP:0006721)2.44602192
79Inflammation of the large intestine (HP:0002037)2.44213507
80Abnormality of the pleura (HP:0002103)2.41583640
81Episodic fever (HP:0001954)2.41240681
82Mucopolysacchariduria (HP:0008155)2.40955904
83Urinary glycosaminoglycan excretion (HP:0003541)2.40955904
84Fatigue (HP:0012378)2.40363748
85Abnormality of mucopolysaccharide metabolism (HP:0011020)2.39841170
86Abnormality of polysaccharide metabolism (HP:0011012)2.39841170
87Abnormality of glycosaminoglycan metabolism (HP:0004371)2.39841170
88Febrile seizures (HP:0002373)2.36850184
89Loss of speech (HP:0002371)2.36413842
90Skin rash (HP:0000988)2.34768991
91Pulmonary fibrosis (HP:0002206)2.34083711
92Sensory axonal neuropathy (HP:0003390)2.33526328
93Postaxial foot polydactyly (HP:0001830)2.31929816
94Abnormality of the lumbar spine (HP:0100712)2.29980868
95Acute myeloid leukemia (HP:0004808)2.28258193
96Abnormality of the vasculature of the conjunctiva (HP:0008054)2.27138525
97Autoimmune thrombocytopenia (HP:0001973)2.26468388
98Bell-shaped thorax (HP:0001591)2.25453433
99Stage 5 chronic kidney disease (HP:0003774)2.22995301
100Genital tract atresia (HP:0001827)2.22406564
101Gastrointestinal inflammation (HP:0004386)2.21787221
102Hypergammaglobulinemia (HP:0010702)2.19370112
103Chronic sinusitis (HP:0011109)2.17593055
104Petechiae (HP:0000967)2.17057638
105Nephroblastoma (Wilms tumor) (HP:0002667)2.17028762
106Cellulitis (HP:0100658)2.16737841
107Supernumerary spleens (HP:0009799)2.16562558
108Ventricular fibrillation (HP:0001663)2.14521244
109Renal duplication (HP:0000075)2.13732241
110Peritonitis (HP:0002586)2.13384545
111Gait imbalance (HP:0002141)2.12620164
112Sepsis (HP:0100806)2.10617774
113Embryonal renal neoplasm (HP:0011794)2.08910471
114Conjunctival telangiectasia (HP:0000524)2.08471138
115Renovascular hypertension (HP:0100817)2.08466832
116Vaginal atresia (HP:0000148)2.08247520
117Myokymia (HP:0002411)2.07890301
118Increased serum ferritin (HP:0003281)2.07703400
119Absent frontal sinuses (HP:0002688)2.07446878
120Polyneuropathy (HP:0001271)2.07077470
121Skin ulcer (HP:0200042)2.05466952
122Abnormality of the pericardium (HP:0001697)2.04194528
123Vertigo (HP:0002321)2.03594738
124Abnormal spermatogenesis (HP:0008669)2.03381003
125Retinal dysplasia (HP:0007973)2.03373388
126Panhypogammaglobulinemia (HP:0003139)2.01678516
127Thickened calvaria (HP:0002684)2.01401887
128Abnormality of B cell number (HP:0010975)2.00643164
129Ureteral stenosis (HP:0000071)2.00245068
130Ureteral obstruction (HP:0006000)1.99826014
131Visual hallucinations (HP:0002367)1.99213512
132Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.99174276
133Congenital primary aphakia (HP:0007707)1.98062376
134Male infertility (HP:0003251)1.96952290
135Overriding aorta (HP:0002623)1.96367253
136Abnormality of the thoracic spine (HP:0100711)1.96072366
137Follicular hyperkeratosis (HP:0007502)1.94650495
138Molar tooth sign on MRI (HP:0002419)1.94643113
139Abnormality of midbrain morphology (HP:0002418)1.94643113
140Microcytic anemia (HP:0001935)1.93755897
141Anorexia (HP:0002039)1.93137000
142Microglossia (HP:0000171)1.91015308
143Tubulointerstitial nephritis (HP:0001970)1.87914428
144Focal motor seizures (HP:0011153)1.86440802
145Recurrent otitis media (HP:0000403)1.86212759
146Cerebral inclusion bodies (HP:0100314)1.86072156
147Progressive cerebellar ataxia (HP:0002073)1.85990716
148Postaxial hand polydactyly (HP:0001162)1.84681631
149Short ribs (HP:0000773)1.77407970
150Abnormal EKG (HP:0003115)1.76749145
151Decreased central vision (HP:0007663)1.76561456
152Aplasia/Hypoplasia of the lens (HP:0008063)1.76515165
153Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.76354320
154Abnormality of the lower motor neuron (HP:0002366)1.74515326
155Progressive macrocephaly (HP:0004481)1.74469223
156Mesomelia (HP:0003027)1.73227072
157Hypothermia (HP:0002045)1.72318832
158Poor coordination (HP:0002370)1.70970138
159Pancreatic fibrosis (HP:0100732)1.70960545
160Potter facies (HP:0002009)1.69987049
161Facial shape deformation (HP:0011334)1.69987049
162Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.68834269
163Absent speech (HP:0001344)1.68744106
164Arterial tortuosity (HP:0005116)1.68494158
165Azoospermia (HP:0000027)1.67180071
166Tubular atrophy (HP:0000092)1.65175930
167Facial cleft (HP:0002006)1.64514437
168Insomnia (HP:0100785)1.60797350
169Neurofibrillary tangles (HP:0002185)1.60666310
170Tubulointerstitial abnormality (HP:0001969)1.58654348
171Focal seizures (HP:0007359)1.57891050
172Parakeratosis (HP:0001036)1.56308253
173Fibular hypoplasia (HP:0003038)1.55850151
174Hypoplasia of the brainstem (HP:0002365)1.55736254
175Aplasia/Hypoplasia of the brainstem (HP:0007362)1.55736254
176Abnormality of the pulmonary veins (HP:0011718)1.55034508
177Autoamputation (HP:0001218)1.54025536
178Abnormality of the frontal sinuses (HP:0002687)1.53400710
179Nephrogenic diabetes insipidus (HP:0009806)1.52915827
180Hypoplasia of the capital femoral epiphysis (HP:0003090)1.51106374
181Aortic dissection (HP:0002647)1.49949008
182Gaze-evoked nystagmus (HP:0000640)1.49429869
183Abnormality of ocular smooth pursuit (HP:0000617)1.49242388
184Spondylolisthesis (HP:0003302)1.49141795
185Atonic seizures (HP:0010819)1.49015715
186Anomalous pulmonary venous return (HP:0010772)1.48957838
187Double outlet right ventricle (HP:0001719)1.47984303
188Congenital malformation of the right heart (HP:0011723)1.47984303
189Type II lissencephaly (HP:0007260)1.47698417
190Short tibia (HP:0005736)1.47287216
191Elfin facies (HP:0004428)1.47146942
192Flat cornea (HP:0007720)1.45427309
193Abolished electroretinogram (ERG) (HP:0000550)1.44281631
194Gonadotropin excess (HP:0000837)1.43393832
195Vascular tortuosity (HP:0004948)1.43365466
196Abnormal connection of the cardiac segments (HP:0011545)1.42319589
197Abnormal ventriculo-arterial connection (HP:0011563)1.42319589
198Transposition of the great arteries (HP:0001669)1.42319589
199Action tremor (HP:0002345)1.41472106

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TESK25.07377658
2PDK34.64407783
3PDK44.64407783
4PNCK4.01208803
5MAP2K33.61299809
6PDK23.53835220
7STK393.44433355
8PRKD33.17940235
9WNK42.98909881
10ICK2.69686453
11ERN12.54014612
12BLK2.46502245
13GRK62.34890534
14MAP3K62.31950380
15MAPKAPK52.26454417
16TEC2.22704369
17PTK2B2.18781272
18EPHA42.18442405
19MOS2.17578463
20IRAK42.02930454
21LATS11.96527791
22ZAP701.94091105
23SYK1.82822961
24MAP4K11.77558170
25TESK11.77123945
26BTK1.76721218
27LATS21.74400902
28MAP3K121.72022933
29MAP2K71.69380766
30MAP3K141.68993448
31KIT1.68941708
32MAP3K41.67959377
33TYK21.67941103
34MAP2K41.67545668
35PLK21.64307571
36NTRK21.52485170
37TXK1.51759173
38CSK1.51389752
39MAP3K91.50112584
40STK381.48217795
41TBK11.46461188
42NUAK11.42054909
43MAPK131.34732032
44CDK191.31337897
45STK101.30286985
46TAOK31.29925655
47MYLK1.29831064
48STK31.29142056
49CSF1R1.27753866
50MUSK1.25811576
51WNK11.25611225
52IKBKE1.25198292
53ITK1.23750900
54NTRK31.22290376
55HCK1.22237771
56CASK1.21750772
57MINK11.20003188
58GRK11.19296922
59TNK21.18459617
60MARK11.14064132
61LYN1.12646646
62TYRO31.09968952
63MAP3K111.07737448
64AKT31.07209329
65GRK51.06588817
66TGFBR21.06211914
67TRPM71.06124256
68OXSR11.06058405
69UHMK11.04207722
70MAP2K61.03576117
71MAPK41.01164146
72PDK11.00806102
73FGR0.99250915
74MAP3K50.98025617
75MAP3K30.97492729
76JAK20.97328285
77FLT30.95175201
78PRPF4B0.91885870
79ARAF0.91881910
80DAPK20.90451871
81JAK30.89005105
82RIPK40.86853300
83CAMK2B0.83279093
84PIK3CG0.82804291
85MATK0.82362419
86SCYL20.82271382
87MAP3K10.81355470
88LMTK20.81273428
89IKBKB0.81201432
90CAMK2A0.80838879
91MAPK70.80575848
92NTRK10.80343561
93LCK0.78323563
94IRAK30.76188636
95YES10.75659981
96BMPR20.75503820
97PRKCG0.73111354
98NEK20.72781238
99JAK10.70495166
100CDK120.69539958
101CDK60.69531397
102STK38L0.69511493
103CDK50.68608710
104ADRBK10.68471505
105MKNK10.67971734
106PAK60.67573177
107MAP3K20.67023234
108CDK150.66796146
109ADRBK20.65481443
110CDK180.65421653
111MAP2K20.64952841
112CLK10.62871982
113MAPK150.61978222
114CDK140.61475131
115PLK30.61110916
116PKN20.58576640
117PRKCQ0.57463710
118EPHB10.57172278
119MAP3K130.56598028
120TLK10.56161458
121TTK0.55727488
122GRK70.53906597
123IRAK20.53764849
124PBK0.52653731
125CDK11A0.50922618
126CAMKK10.47604045
127TAOK10.47578884
128PIM10.47445139
129RPS6KA40.47163673
130PDGFRA0.45487043
131BRAF0.45466579
132PDPK10.45208764
133CAMK2G0.44892992
134FRK0.43383767
135PAK10.43241009
136SGK2230.43081186
137SGK4940.43081186
138PAK20.43030540
139FES0.42596158
140PDGFRB0.42314834
141ALK0.42107431
142PRKACB0.42041567
143PASK0.40867461
144DDR20.40313497
145ABL10.39931321
146RPS6KA60.39870926
147IRAK10.38687397
148PRKCZ0.38309226
149RPS6KC10.38276004
150RPS6KL10.38276004
151CAMK2D0.38158894
152FGFR20.37920590
153NME10.37022295
154CAMKK20.36642624
155DYRK1A0.36156723
156RAF10.35601638
157STK110.35198090
158CDC70.34657036
159LRRK20.34403934
160ABL20.33199966
161MAPK120.32377164
162CSNK1E0.31321084
163RET0.30598353
164TTN0.30082759
165CAMK1G0.27062261
166FYN0.26281663
167KDR0.25997098
168HIPK20.25337055
169PRKCD0.24875995
170PRKACA0.24805873
171PKN10.24614319
172MAPKAPK20.24569431
173ERBB30.24158793
174MARK30.23899154
175PINK10.23302785
176ACVR1B0.22255229
177SGK10.22009591
178MARK20.21198415

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.04169173
2Leishmaniasis_Homo sapiens_hsa051403.01449828
3Amphetamine addiction_Homo sapiens_hsa050312.85068301
4Collecting duct acid secretion_Homo sapiens_hsa049662.84602095
5Osteoclast differentiation_Homo sapiens_hsa043802.70833312
6Nicotine addiction_Homo sapiens_hsa050332.58313542
7NOD-like receptor signaling pathway_Homo sapiens_hsa046212.54019663
8Other glycan degradation_Homo sapiens_hsa005112.17874350
9Glutamatergic synapse_Homo sapiens_hsa047242.16419204
10Staphylococcus aureus infection_Homo sapiens_hsa051502.14733068
11Olfactory transduction_Homo sapiens_hsa047402.13387514
12Renin secretion_Homo sapiens_hsa049242.11050768
13B cell receptor signaling pathway_Homo sapiens_hsa046622.09674760
14Serotonergic synapse_Homo sapiens_hsa047262.06715195
15Asthma_Homo sapiens_hsa053102.00109976
16Long-term potentiation_Homo sapiens_hsa047201.99726102
17Platelet activation_Homo sapiens_hsa046111.98678471
18Tuberculosis_Homo sapiens_hsa051521.97840551
19Dopaminergic synapse_Homo sapiens_hsa047281.95043095
20Morphine addiction_Homo sapiens_hsa050321.90304125
21Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.89691455
22Cocaine addiction_Homo sapiens_hsa050301.87269399
23Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.87022020
24Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.85876411
25Ether lipid metabolism_Homo sapiens_hsa005651.85209572
26Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.84452881
27Oxidative phosphorylation_Homo sapiens_hsa001901.80711186
28Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.79811351
29Circadian entrainment_Homo sapiens_hsa047131.78895033
30Toll-like receptor signaling pathway_Homo sapiens_hsa046201.78092879
31Axon guidance_Homo sapiens_hsa043601.76346729
32Hematopoietic cell lineage_Homo sapiens_hsa046401.76329572
33Legionellosis_Homo sapiens_hsa051341.75759819
34Malaria_Homo sapiens_hsa051441.72157202
35Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.68008096
36Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.67745968
37Oocyte meiosis_Homo sapiens_hsa041141.67211999
38Calcium signaling pathway_Homo sapiens_hsa040201.64400845
39Primary immunodeficiency_Homo sapiens_hsa053401.60340147
40Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.58263475
41Dorso-ventral axis formation_Homo sapiens_hsa043201.53375756
42Huntingtons disease_Homo sapiens_hsa050161.53310110
43Taste transduction_Homo sapiens_hsa047421.53197966
44RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.52515642
45Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.46834116
46Parkinsons disease_Homo sapiens_hsa050121.46762654
47Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.46465826
48Alzheimers disease_Homo sapiens_hsa050101.44691506
49Gastric acid secretion_Homo sapiens_hsa049711.44169711
50Renin-angiotensin system_Homo sapiens_hsa046141.44078545
51alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.41266954
52GABAergic synapse_Homo sapiens_hsa047271.40153743
53Salivary secretion_Homo sapiens_hsa049701.40058253
54Insulin secretion_Homo sapiens_hsa049111.39175685
55T cell receptor signaling pathway_Homo sapiens_hsa046601.37925631
56Phosphatidylinositol signaling system_Homo sapiens_hsa040701.36709392
57Vibrio cholerae infection_Homo sapiens_hsa051101.36515646
58Pyruvate metabolism_Homo sapiens_hsa006201.35056931
59Acute myeloid leukemia_Homo sapiens_hsa052211.35034280
60Cardiac muscle contraction_Homo sapiens_hsa042601.34638634
61Cholinergic synapse_Homo sapiens_hsa047251.32769206
62Graft-versus-host disease_Homo sapiens_hsa053321.32552845
63Glycosaminoglycan degradation_Homo sapiens_hsa005311.32095677
64Linoleic acid metabolism_Homo sapiens_hsa005911.30049869
65Vascular smooth muscle contraction_Homo sapiens_hsa042701.29097016
66Glucagon signaling pathway_Homo sapiens_hsa049221.28292006
67Aldosterone synthesis and secretion_Homo sapiens_hsa049251.28176389
68Phototransduction_Homo sapiens_hsa047441.27245277
69Influenza A_Homo sapiens_hsa051641.26556028
70Transcriptional misregulation in cancer_Homo sapiens_hsa052021.26525169
71Toxoplasmosis_Homo sapiens_hsa051451.22995497
72Amoebiasis_Homo sapiens_hsa051461.21908371
73Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.20604913
74Pertussis_Homo sapiens_hsa051331.20413706
75Non-small cell lung cancer_Homo sapiens_hsa052231.19693213
76NF-kappa B signaling pathway_Homo sapiens_hsa040641.19563193
77Thyroid hormone synthesis_Homo sapiens_hsa049181.16435388
78Allograft rejection_Homo sapiens_hsa053301.15497641
79Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.15484838
80Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.15150024
81Intestinal immune network for IgA production_Homo sapiens_hsa046721.12574184
82Lysosome_Homo sapiens_hsa041421.11786126
83Chemokine signaling pathway_Homo sapiens_hsa040621.09399127
84Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.09166122
85TNF signaling pathway_Homo sapiens_hsa046681.08593811
86Measles_Homo sapiens_hsa051621.07542979
87Autoimmune thyroid disease_Homo sapiens_hsa053201.06843310
88GnRH signaling pathway_Homo sapiens_hsa049121.05788689
89Pancreatic cancer_Homo sapiens_hsa052121.05218079
90* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.04484235
91Phagosome_Homo sapiens_hsa041451.04050063
92Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.03716928
93Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.03454515
94Leukocyte transendothelial migration_Homo sapiens_hsa046701.01911343
95Jak-STAT signaling pathway_Homo sapiens_hsa046301.01811908
96Long-term depression_Homo sapiens_hsa047301.01766516
97Sphingolipid metabolism_Homo sapiens_hsa006001.01560271
98Antigen processing and presentation_Homo sapiens_hsa046121.01354746
99Hepatitis B_Homo sapiens_hsa051611.00456189
100Carbohydrate digestion and absorption_Homo sapiens_hsa049730.99457517
101Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.99173187
102Oxytocin signaling pathway_Homo sapiens_hsa049210.98158853
103Estrogen signaling pathway_Homo sapiens_hsa049150.95743102
104Systemic lupus erythematosus_Homo sapiens_hsa053220.95332020
105African trypanosomiasis_Homo sapiens_hsa051430.93823745
106Shigellosis_Homo sapiens_hsa051310.93093722
107Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.91060308
108Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.90915372
109Gap junction_Homo sapiens_hsa045400.87898545
110Propanoate metabolism_Homo sapiens_hsa006400.87694685
111Salmonella infection_Homo sapiens_hsa051320.87333016
112Inositol phosphate metabolism_Homo sapiens_hsa005620.86226307
113Arachidonic acid metabolism_Homo sapiens_hsa005900.85523300
114cAMP signaling pathway_Homo sapiens_hsa040240.85429833
115Ras signaling pathway_Homo sapiens_hsa040140.82782067
116Herpes simplex infection_Homo sapiens_hsa051680.82161119
117Neurotrophin signaling pathway_Homo sapiens_hsa047220.81294957
118ECM-receptor interaction_Homo sapiens_hsa045120.81213199
119cGMP-PKG signaling pathway_Homo sapiens_hsa040220.80516158
120Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.79362101
121Chronic myeloid leukemia_Homo sapiens_hsa052200.76299511
122Melanogenesis_Homo sapiens_hsa049160.75807051
123Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.75452883
124Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.72290014
125Apoptosis_Homo sapiens_hsa042100.71105957
126Rheumatoid arthritis_Homo sapiens_hsa053230.70941365
127Basal transcription factors_Homo sapiens_hsa030220.70685196
128Type I diabetes mellitus_Homo sapiens_hsa049400.68045147
129VEGF signaling pathway_Homo sapiens_hsa043700.65189414
130FoxO signaling pathway_Homo sapiens_hsa040680.62478049
131Glycerophospholipid metabolism_Homo sapiens_hsa005640.61768586
132AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.61524562
133Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.59017380
134Tight junction_Homo sapiens_hsa045300.57916948
135Alcoholism_Homo sapiens_hsa050340.57150622
136Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.56441450
137Choline metabolism in cancer_Homo sapiens_hsa052310.56229615
138Fatty acid biosynthesis_Homo sapiens_hsa000610.56178077
139Glycerolipid metabolism_Homo sapiens_hsa005610.55502148
140Nitrogen metabolism_Homo sapiens_hsa009100.55299296
141ErbB signaling pathway_Homo sapiens_hsa040120.54340106
142Renal cell carcinoma_Homo sapiens_hsa052110.54315184
143Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.53387164
144Ovarian steroidogenesis_Homo sapiens_hsa049130.52142140
145Fanconi anemia pathway_Homo sapiens_hsa034600.51421711
146Adipocytokine signaling pathway_Homo sapiens_hsa049200.50761979
147Regulation of autophagy_Homo sapiens_hsa041400.50505718
148Prolactin signaling pathway_Homo sapiens_hsa049170.50269781
149Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.48752620
150Dilated cardiomyopathy_Homo sapiens_hsa054140.48747626
151Cysteine and methionine metabolism_Homo sapiens_hsa002700.48201048
152Viral myocarditis_Homo sapiens_hsa054160.47519296
153Hepatitis C_Homo sapiens_hsa051600.47232260
154Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.46626128
155Hedgehog signaling pathway_Homo sapiens_hsa043400.46323026
156Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.46171443
157Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.46039385
158Wnt signaling pathway_Homo sapiens_hsa043100.45372070
159Phospholipase D signaling pathway_Homo sapiens_hsa040720.45322522
160Viral carcinogenesis_Homo sapiens_hsa052030.44298823
161Pancreatic secretion_Homo sapiens_hsa049720.43925186
162MAPK signaling pathway_Homo sapiens_hsa040100.43768056
163Rap1 signaling pathway_Homo sapiens_hsa040150.43583291
164SNARE interactions in vesicular transport_Homo sapiens_hsa041300.42717833
165Colorectal cancer_Homo sapiens_hsa052100.41001697
166Notch signaling pathway_Homo sapiens_hsa043300.40050218
167Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.39674716
168Drug metabolism - other enzymes_Homo sapiens_hsa009830.38436203
169HIF-1 signaling pathway_Homo sapiens_hsa040660.38344797
170Sphingolipid signaling pathway_Homo sapiens_hsa040710.37127367
171Type II diabetes mellitus_Homo sapiens_hsa049300.35732934
172Purine metabolism_Homo sapiens_hsa002300.32869862
173Pentose phosphate pathway_Homo sapiens_hsa000300.32174794
174Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.31842258

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