CPA5

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: Carboxypeptidases have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Members of the A/B subfamily of carboxypeptidases, such as CPA5, contain an approximately 90-amino acid pro region that assists in the folding of the active carboxypeptidase domain. Cleavage of the pro region activates the enzyme (Wei et al., 2002 [PubMed 11836249]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epithelial cilium movement (GO:0003351)9.94610903
2axonemal dynein complex assembly (GO:0070286)9.92050055
3reproduction (GO:0000003)9.41162674
4spermatid development (GO:0007286)9.29621396
5regulation of cilium movement (GO:0003352)9.01370436
6motile cilium assembly (GO:0044458)8.84805054
7cilium movement (GO:0003341)8.39482712
8sperm capacitation (GO:0048240)7.60883090
9single fertilization (GO:0007338)7.53342152
10epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.46143465
11male meiosis (GO:0007140)7.41445595
12antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G7.40998025
13piRNA metabolic process (GO:0034587)7.05576826
14synaptonemal complex organization (GO:0070193)6.94282382
15synaptonemal complex assembly (GO:0007130)6.79533203
16negative regulation of stress fiber assembly (GO:0051497)6.53592555
17microtubule depolymerization (GO:0007019)6.41273414
18spermatogenesis (GO:0007283)6.40387499
19male gamete generation (GO:0048232)6.37908020
20fertilization (GO:0009566)6.29192374
21organic cation transport (GO:0015695)6.15823435
22positive T cell selection (GO:0043368)6.14492892
23negative regulation of inclusion body assembly (GO:0090084)6.02431051
24negative regulation of actin filament bundle assembly (GO:0032232)5.95444826
25gamete generation (GO:0007276)5.86680820
26positive regulation of fatty acid beta-oxidation (GO:0032000)5.77278880
27ventricular system development (GO:0021591)5.76044628
28cellular process involved in reproduction in multicellular organism (GO:0022412)5.34951603
29calcium ion-dependent exocytosis (GO:0017156)5.32400233
30regulation of microtubule-based movement (GO:0060632)5.30270199
31germ cell development (GO:0007281)5.27294318
32microtubule severing (GO:0051013)5.22297684
33cell recognition (GO:0008037)5.14485613
34regulation of inclusion body assembly (GO:0090083)5.13928909
35male meiosis I (GO:0007141)5.11692067
36T cell migration (GO:0072678)5.09700659
37positive thymic T cell selection (GO:0045059)5.02562708
38cytolysis (GO:0019835)4.97755282
39negative T cell selection (GO:0043383)4.96447740
40chromosome organization involved in meiosis (GO:0070192)4.73627745
41cellular ketone body metabolic process (GO:0046950)4.73332762
42multicellular organismal reproductive process (GO:0048609)4.62778127
43DNA methylation involved in gamete generation (GO:0043046)4.60215731
44left/right pattern formation (GO:0060972)4.42421490
45regulation of activation of Janus kinase activity (GO:0010533)4.42265066
46chromosome condensation (GO:0030261)4.40385742
47glycerol ether metabolic process (GO:0006662)4.33569540
48negative regulation of T cell apoptotic process (GO:0070233)4.31340036
49DNA packaging (GO:0006323)4.27941797
50spermatid nucleus differentiation (GO:0007289)4.25531006
51ketone body metabolic process (GO:1902224)4.22997414
52response to folic acid (GO:0051593)4.22577583
53meiotic nuclear division (GO:0007126)4.22395465
54protein polyglutamylation (GO:0018095)4.21949995
55genitalia morphogenesis (GO:0035112)4.17425667
56seminiferous tubule development (GO:0072520)4.12498146
57protein neddylation (GO:0045116)4.06052394
58regulation of ruffle assembly (GO:1900027)4.05473012
59respiratory burst (GO:0045730)4.05299492
60negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.02175746
61negative regulation of cell killing (GO:0031342)4.02175746
62T cell selection (GO:0045058)4.02135726
63regulation of regulatory T cell differentiation (GO:0045589)4.00694703
64meiosis I (GO:0007127)3.99209566
65ether metabolic process (GO:0018904)3.99162341
66positive regulation of T cell mediated cytotoxicity (GO:0001916)3.95592028
67regulation of T cell mediated cytotoxicity (GO:0001914)3.92277227
68regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.91446449
69positive regulation of leukocyte mediated cytotoxicity (GO:0001912)3.90410824
70antigen processing and presentation via MHC class Ib (GO:0002475)3.83281967
71cytidine metabolic process (GO:0046087)3.83252992
72cytidine catabolic process (GO:0006216)3.83252992
73cytidine deamination (GO:0009972)3.83252992
74negative regulation of mast cell activation (GO:0033004)3.81749921
75positive regulation of fatty acid oxidation (GO:0046321)3.74633654
76multicellular organismal development (GO:0007275)3.73805052
77negative regulation of execution phase of apoptosis (GO:1900118)3.72058671
78positive regulation of tolerance induction (GO:0002645)3.71814165
79positive regulation of natural killer cell mediated immunity (GO:0002717)3.70171252
80regulation of leukocyte mediated cytotoxicity (GO:0001910)3.65796197
81negative regulation of nitric-oxide synthase activity (GO:0051001)3.64644787
82monoubiquitinated protein deubiquitination (GO:0035520)3.64231123
83thymic T cell selection (GO:0045061)3.58265531
84positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)3.55702263
85positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.52567878
86chaperone-mediated protein complex assembly (GO:0051131)3.48858325
87interferon-gamma production (GO:0032609)3.48325662
88positive regulation of phosphoprotein phosphatase activity (GO:0032516)3.45125237
89positive regulation of calcium-mediated signaling (GO:0050850)3.44917072
90microtubule polymerization or depolymerization (GO:0031109)3.39884387
91positive regulation of interleukin-4 production (GO:0032753)3.37432546
92purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)3.36576924
93T cell mediated immunity (GO:0002456)3.35346788
94regulation of spindle checkpoint (GO:0090231)3.35263098
95pyrimidine ribonucleoside catabolic process (GO:0046133)3.34947416
96regulation of natural killer cell mediated immunity (GO:0002715)3.33671849
97regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.33671849
98mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.33206939
99protein localization to cilium (GO:0061512)3.31960142
100cellular response to interleukin-15 (GO:0071350)3.28932231
101positive regulation of cell killing (GO:0031343)3.28417900
102protein K11-linked deubiquitination (GO:0035871)3.24572255
103actin nucleation (GO:0045010)3.24141509
104meiotic cell cycle (GO:0051321)3.23911371
105type I interferon signaling pathway (GO:0060337)3.22699026
106cellular response to type I interferon (GO:0071357)3.22699026
107response to type I interferon (GO:0034340)3.18745368
108lymphocyte migration (GO:0072676)3.15782952
109negative regulation of organelle assembly (GO:1902116)3.13444453
110negative thymic T cell selection (GO:0045060)3.12309767
111negative regulation of phagocytosis (GO:0050765)3.11709589
112regulation of fatty acid beta-oxidation (GO:0031998)3.11701364
113centriole assembly (GO:0098534)3.10867013
114regulation of cell killing (GO:0031341)3.10628129
115T cell receptor signaling pathway (GO:0050852)3.09222770
116carnitine transport (GO:0015879)3.08793373
117amino-acid betaine transport (GO:0015838)3.08793373
118Arp2/3 complex-mediated actin nucleation (GO:0034314)3.08358780
119mast cell activation (GO:0045576)3.07069872
120regulation of T cell tolerance induction (GO:0002664)3.06908329
121centriole replication (GO:0007099)3.06491352
122protein refolding (GO:0042026)3.03981253
123glycolytic process (GO:0006096)3.03631904
124RNA localization (GO:0006403)3.02569413
125intraciliary transport (GO:0042073)3.01572700
126cilium organization (GO:0044782)3.01563878
127regulation of B cell receptor signaling pathway (GO:0050855)2.99199172
128microtubule-based movement (GO:0007018)2.98879072
129positive regulation of T cell mediated immunity (GO:0002711)2.98799589
130signal complex assembly (GO:0007172)2.98508448
131single strand break repair (GO:0000012)2.95965177
132carnitine transmembrane transport (GO:1902603)2.95809980
133regulation of tolerance induction (GO:0002643)2.95474960
134regulation of rhodopsin mediated signaling pathway (GO:0022400)2.94672687
135synapsis (GO:0007129)2.92861523
136regulation of T cell receptor signaling pathway (GO:0050856)2.92021586
137sexual reproduction (GO:0019953)2.91754864
138cellular component assembly involved in morphogenesis (GO:0010927)2.91740567
139phosphatidylethanolamine biosynthetic process (GO:0006646)2.91383679
140zinc ion homeostasis (GO:0055069)2.91379175
141cilium assembly (GO:0042384)2.88864419
142cilium morphogenesis (GO:0060271)2.86841159
143negative regulation of skeletal muscle tissue development (GO:0048642)2.83647526
144nucleoside diphosphate phosphorylation (GO:0006165)2.83511017
145negative regulation of oxidoreductase activity (GO:0051354)2.82018075
146purine deoxyribonucleotide metabolic process (GO:0009151)2.82017504
147meiotic cell cycle process (GO:1903046)2.80998878
148fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.80240391
149mitotic sister chromatid cohesion (GO:0007064)2.78071487
150purine deoxyribonucleotide catabolic process (GO:0009155)2.75935646
151energy coupled proton transport, down electrochemical gradient (GO:0015985)2.75050826
152ATP synthesis coupled proton transport (GO:0015986)2.75050826
153axoneme assembly (GO:0035082)2.73612069
154sex differentiation (GO:0007548)2.73519219
155regulation of T cell mediated immunity (GO:0002709)2.73495887
156peptidyl-glutamic acid modification (GO:0018200)2.73454075
157rhodopsin mediated signaling pathway (GO:0016056)2.73398798
158antigen processing and presentation of endogenous antigen (GO:0019883)2.73380470
159regulation of T cell differentiation in thymus (GO:0033081)2.72789151
160positive regulation of lymphocyte mediated immunity (GO:0002708)2.72195862
161positive regulation of B cell differentiation (GO:0045579)2.70862944
162RNA destabilization (GO:0050779)2.70317739
163nucleus organization (GO:0006997)2.69703746
164positive regulation of T cell differentiation in thymus (GO:0033089)2.68921830
165positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.67971555
166positive regulation of gamma-delta T cell activation (GO:0046645)2.67769892
167positive regulation of macrophage differentiation (GO:0045651)2.65819374
168neutrophil activation (GO:0042119)2.65679122
169regulation of centriole replication (GO:0046599)2.64791442
170positive regulation of macrophage activation (GO:0043032)2.63178409
171gene silencing by RNA (GO:0031047)2.63044421
172polyol catabolic process (GO:0046174)2.63041062
173lactate metabolic process (GO:0006089)2.58556519
174sequestering of actin monomers (GO:0042989)2.56281557
175alditol metabolic process (GO:0019400)2.56083191
176calcium ion import (GO:0070509)2.55382160
177regulation of protein kinase C signaling (GO:0090036)2.42297777
178sperm motility (GO:0030317)13.4875855
179fusion of sperm to egg plasma membrane (GO:0007342)13.3734287
180acrosome assembly (GO:0001675)11.9892884
181cell wall macromolecule catabolic process (GO:0016998)11.8831209
182cell wall macromolecule metabolic process (GO:0044036)11.8831209
183acrosome reaction (GO:0007340)11.7086929
184sperm-egg recognition (GO:0035036)11.6287100
185multicellular organism reproduction (GO:0032504)11.2670776
186cilium or flagellum-dependent cell motility (GO:0001539)10.8024525
187binding of sperm to zona pellucida (GO:0007339)10.4372153
188cell-cell recognition (GO:0009988)10.3843163
189plasma membrane fusion (GO:0045026)10.2178003

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse8.42257570
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse5.93657637
3EZH2_22144423_ChIP-Seq_EOC_Human4.79948420
4STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.63787602
5TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.55766976
6NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.34830767
7IRF8_22096565_ChIP-ChIP_GC-B_Human2.97918214
8PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.87980248
9* IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.86761137
10GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.82547401
11RUNX_20019798_ChIP-Seq_JUKART_Human2.70990136
12SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.70982119
13MYB_26560356_Chip-Seq_TH2_Human2.64085479
14IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.49676623
15FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.45005262
16BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.43998827
17IRF8_21731497_ChIP-ChIP_J774_Mouse2.43092483
18STAT6_21828071_ChIP-Seq_BEAS2B_Human2.39896131
19VDR_22108803_ChIP-Seq_LS180_Human2.33419739
20ZNF274_21170338_ChIP-Seq_K562_Hela2.28350107
21GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.16352462
22MYB_26560356_Chip-Seq_TH1_Human2.07112651
23ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.06929987
24GATA3_26560356_Chip-Seq_TH2_Human2.01159725
25SMAD_19615063_ChIP-ChIP_OVARY_Human2.00757670
26FLI1_27457419_Chip-Seq_LIVER_Mouse1.98357303
27EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.95332703
28PCGF2_27294783_Chip-Seq_ESCs_Mouse1.92777714
29CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.90576419
30LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.89501834
31KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.89266823
32GATA3_27048872_Chip-Seq_THYMUS_Human1.89159018
33UTX_26944678_Chip-Seq_JUKART_Human1.86905753
34ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.85090105
35CBX2_27304074_Chip-Seq_ESCs_Mouse1.78413398
36TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.76736960
37CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.76059378
38STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.75241469
39GATA1_26923725_Chip-Seq_HPCs_Mouse1.69528889
40NANOG_20526341_ChIP-Seq_ESCs_Human1.69176176
41STAT1_17558387_ChIP-Seq_HELA_Human1.66740636
42MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.65732438
43CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.65227878
44RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.64770830
45KDM2B_26808549_Chip-Seq_REH_Human1.62659223
46SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.61332503
47PCGF2_27294783_Chip-Seq_NPCs_Mouse1.61042387
48RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.60444554
49EGR1_23403033_ChIP-Seq_LIVER_Mouse1.59440967
50GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.55282157
51ELK4_26923725_Chip-Seq_MESODERM_Mouse1.55077013
52TAL1_26923725_Chip-Seq_HPCs_Mouse1.49883161
53NFE2_27457419_Chip-Seq_LIVER_Mouse1.49434636
54CTBP2_25329375_ChIP-Seq_LNCAP_Human1.49107368
55FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.48418850
56* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.48026808
57GBX2_23144817_ChIP-Seq_PC3_Human1.43340947
58SOX2_22085726_ChIP-Seq_NPCs_Mouse1.42110706
59STAT4_19710469_ChIP-ChIP_TH1__Mouse1.41858317
60TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.40525000
61GATA3_21878914_ChIP-Seq_MCF-7_Human1.39799291
62EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.39246442
63WDR5_24793694_ChIP-Seq_LNCAP_Human1.39239375
64SUZ12_27294783_Chip-Seq_NPCs_Mouse1.38129944
65IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.36564871
66CBP_20019798_ChIP-Seq_JUKART_Human1.36564871
67FLI1_21867929_ChIP-Seq_TH2_Mouse1.36308520
68BCL6_27268052_Chip-Seq_Bcells_Human1.34453812
69CTBP1_25329375_ChIP-Seq_LNCAP_Human1.33557395
70REST_21632747_ChIP-Seq_MESCs_Mouse1.33293668
71TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.32793921
72KAP1_22055183_ChIP-Seq_ESCs_Mouse1.32530200
73MYC_19829295_ChIP-Seq_ESCs_Human1.32455087
74NANOG_18555785_Chip-Seq_ESCs_Mouse1.31577247
75* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.31302106
76LUZP1_20508642_ChIP-Seq_ESCs_Mouse1.29994428
77TAF15_26573619_Chip-Seq_HEK293_Human1.29773569
78GATA3_21867929_ChIP-Seq_CD8_Mouse1.28743499
79TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human1.28604664
80CRX_20693478_ChIP-Seq_RETINA_Mouse1.28312596
81RAC3_21632823_ChIP-Seq_H3396_Human1.28143824
82GATA3_21867929_ChIP-Seq_TH1_Mouse1.25458678
83STAT1_20625510_ChIP-Seq_HELA_Human1.25058386
84GF1_26923725_Chip-Seq_HPCs_Mouse1.24183676
85* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.23929921
86SOX2_19829295_ChIP-Seq_ESCs_Human1.23001942
87NANOG_19829295_ChIP-Seq_ESCs_Human1.23001942
88* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.22607383
89RNF2_27304074_Chip-Seq_NSC_Mouse1.21832915
90MAF_26560356_Chip-Seq_TH1_Human1.21304595
91OCT4_18555785_Chip-Seq_ESCs_Mouse1.20532329
92TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19873542
93P53_22387025_ChIP-Seq_ESCs_Mouse1.19387827
94TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19039301
95POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.19039301
96EZH2_27294783_Chip-Seq_NPCs_Mouse1.19033762
97TAF2_19829295_ChIP-Seq_ESCs_Human1.18869479
98P53_21459846_ChIP-Seq_SAOS-2_Human1.18688505
99* CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.18608468
100CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.18572917
101FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.17826529
102EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.16707976
103OCT4_21477851_ChIP-Seq_ESCs_Mouse1.15413681
104E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.14265461
105SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.14186699
106P300_18555785_Chip-Seq_ESCs_Mouse1.12996139
107CMYC_18555785_Chip-Seq_ESCs_Mouse1.12255048
108KLF4_18555785_Chip-Seq_ESCs_Mouse1.11973276
109NCOR_22424771_ChIP-Seq_293T_Human1.11789437
110RUNX1_26923725_Chip-Seq_HPCs_Mouse1.11431801
111ESRRB_18555785_Chip-Seq_ESCs_Mouse1.09758299
112EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.09750705
113VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.09476366
114MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.09116794
115SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.09005478
116SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.08656096
117FOXH1_21741376_ChIP-Seq_EPCs_Human1.08485459
118FOXA1_25329375_ChIP-Seq_VCAP_Human1.08416033
119FOXA1_27270436_Chip-Seq_PROSTATE_Human1.08416033
120LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.08328377
121P300_27268052_Chip-Seq_Bcells_Human1.07279878
122ETV2_25802403_ChIP-Seq_MESCs_Mouse1.07119258
123SUZ12_18555785_Chip-Seq_ESCs_Mouse1.06729740
124CTCF_27219007_Chip-Seq_Bcells_Human1.05841625
125SPI1_26923725_Chip-Seq_HPCs_Mouse1.05438391
126GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.05429202
127TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.04153917
128RBPJ_21746931_ChIP-Seq_IB4_Human1.03630250
129EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.03610492
130STAT3_18555785_Chip-Seq_ESCs_Mouse1.03172526
131RAD21_21589869_ChIP-Seq_MESCs_Mouse1.01890040
132PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.01103818
133BP1_19119308_ChIP-ChIP_Hs578T_Human1.00537302
134MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.00466325
135* ERA_21632823_ChIP-Seq_H3396_Human1.00383084
136CTCF_20526341_ChIP-Seq_ESCs_Human0.99987253
137CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.99968348
138FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.99491352
139GATA1_19941826_ChIP-Seq_K562_Human0.99459185
140MAF_26560356_Chip-Seq_TH2_Human0.99281209
141RXR_22108803_ChIP-Seq_LS180_Human0.99018277
142TBL1_22424771_ChIP-Seq_293T_Human0.98196679
143GATA6_21074721_ChIP-Seq_CACO-2_Human0.98155368
144PU1_27457419_Chip-Seq_LIVER_Mouse0.98040311
145JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.97870713
146SOX2_18555785_Chip-Seq_ESCs_Mouse0.97493839
147SPI1_23127762_ChIP-Seq_K562_Human0.97218081
148ERG_20517297_ChIP-Seq_VCAP_Human0.96990583
149CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.96718881
150NFYB_21822215_ChIP-Seq_K562_Human0.96639875
151EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.95791797
152SOX9_26525672_Chip-Seq_HEART_Mouse0.95729002
153* HTT_18923047_ChIP-ChIP_STHdh_Human0.95709029
154PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.95556463
155PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.94542564
156MYC_27129775_Chip-Seq_CORNEA_Mouse0.94456142
157ESET_19884257_ChIP-Seq_ESCs_Mouse0.94446583
158RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.94011940
159MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.93999034
160SA1_27219007_Chip-Seq_Bcells_Human0.93994832
161SOX2_21211035_ChIP-Seq_LN229_Human0.93959271
162E2F1_18555785_Chip-Seq_ESCs_Mouse0.93697770
163CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.93079917
164PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.93032321
165SMAD3_21741376_ChIP-Seq_ESCs_Human0.92801151
166CTCF_18555785_Chip-Seq_ESCs_Mouse0.92586299
167ELF1_20517297_ChIP-Seq_JURKAT_Human0.92513577
168AR_20517297_ChIP-Seq_VCAP_Human0.92498587
169JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.92227949
170SOX11_22085726_ChIP-Seq_ESNs_Mouse0.91853907
171SMAD4_21741376_ChIP-Seq_EPCs_Human0.91701871
172RUNX1_27457419_Chip-Seq_LIVER_Mouse0.91443053
173EZH2_27294783_Chip-Seq_ESCs_Mouse0.90324964
174BCOR_27268052_Chip-Seq_Bcells_Human0.89995762
175YY1_22570637_ChIP-Seq_MALME-3M_Human0.89878911
176HNFA_21074721_ChIP-Seq_CACO-2_Human0.89451916
177OCT4_20526341_ChIP-Seq_ESCs_Human0.89436932
178CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.88995907
179PHF8_20622853_ChIP-Seq_HELA_Human0.88843463
180TDRD3_21172665_ChIP-Seq_MCF-7_Human0.88539523
181ETV1_20927104_ChIP-Seq_GIST48_Human0.88385274
182BMI1_23680149_ChIP-Seq_NPCS_Mouse0.88316472
183AUTS2_25519132_ChIP-Seq_293T-REX_Human0.88086165

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003698_abnormal_male_reproductive5.92487156
2MP0001929_abnormal_gametogenesis5.22456577
3MP0005671_abnormal_response_to5.13391118
4MP0008877_abnormal_DNA_methylation4.20575655
5MP0002210_abnormal_sex_determination3.33174068
6MP0005645_abnormal_hypothalamus_physiol3.19998461
7MP0002161_abnormal_fertility/fecundity3.19666780
8MP0009333_abnormal_splenocyte_physiolog3.11027689
9MP0003045_fibrosis3.05132245
10MP0002653_abnormal_ependyma_morphology2.96537889
11MP0001145_abnormal_male_reproductive2.79277620
12MP0003880_abnormal_central_pattern2.58222399
13MP0005670_abnormal_white_adipose2.56193477
14MP0009785_altered_susceptibility_to2.54538865
15MP0000685_abnormal_immune_system2.49467602
16MP0000653_abnormal_sex_gland2.46743163
17MP0005623_abnormal_meninges_morphology2.30878296
18MP0005451_abnormal_body_composition2.16666901
19MP0005646_abnormal_pituitary_gland2.16501098
20MP0003763_abnormal_thymus_physiology2.07859719
21MP0001835_abnormal_antigen_presentation2.07639032
22MP0005025_abnormal_response_to2.01407167
23MP0005410_abnormal_fertilization15.7535524
24MP0004510_myositis1.97309687
25MP0005387_immune_system_phenotype1.97273244
26MP0001790_abnormal_immune_system1.97273244
27MP0001800_abnormal_humoral_immune1.95380726
28MP0005464_abnormal_platelet_physiology1.95365268
29MP0005083_abnormal_biliary_tract1.94955636
30MP0005000_abnormal_immune_tolerance1.93801636
31MP0002420_abnormal_adaptive_immunity1.85792325
32MP0001819_abnormal_immune_cell1.80397795
33MP0002723_abnormal_immune_serum1.68210959
34MP0002166_altered_tumor_susceptibility1.67863031
35MP0005075_abnormal_melanosome_morpholog1.65413352
36MP0003436_decreased_susceptibility_to1.61720909
37MP0003646_muscle_fatigue1.56395024
38MP0001905_abnormal_dopamine_level1.51139878
39MP0001873_stomach_inflammation1.50210384
40MP0002452_abnormal_antigen_presenting1.48532571
41MP0002138_abnormal_hepatobiliary_system1.46982659
42MP0009046_muscle_twitch1.42333643
43MP0004233_abnormal_muscle_weight1.42045601
44MP0002282_abnormal_trachea_morphology1.38114775
45MP0002638_abnormal_pupillary_reflex1.36701662
46MP0002160_abnormal_reproductive_system1.36661929
47MP0002168_other_aberrant_phenotype1.36194037
48MP0008961_abnormal_basal_metabolism1.32834333
49MP0000716_abnormal_immune_system1.30741054
50MP0002419_abnormal_innate_immunity1.30589371
51MP0004947_skin_inflammation1.29485687
52MP0001533_abnormal_skeleton_physiology1.28139624
53MP0003879_abnormal_hair_cell1.26629654
54MP0009764_decreased_sensitivity_to1.23357093
55MP0002148_abnormal_hypersensitivity_rea1.21563630
56MP0009379_abnormal_foot_pigmentation1.17958061
57MP0001919_abnormal_reproductive_system1.16960324
58MP0005379_endocrine/exocrine_gland_phen1.16951145
59MP0002398_abnormal_bone_marrow1.15593578
60MP0001986_abnormal_taste_sensitivity1.15094350
61MP0001879_abnormal_lymphatic_vessel1.13979318
62MP0004134_abnormal_chest_morphology1.10243989
63MP0005174_abnormal_tail_pigmentation1.09404340
64MP0010329_abnormal_lipoprotein_level1.06863889
65MP0008058_abnormal_DNA_repair1.01240747
66MP0003866_abnormal_defecation0.98952099
67MP0001765_abnormal_ion_homeostasis0.98936963
68MP0010386_abnormal_urinary_bladder0.98788560
69MP0002006_tumorigenesis0.98126315
70MP0002933_joint_inflammation0.94594781
71MP0005423_abnormal_somatic_nervous0.92551090
72MP0001984_abnormal_olfaction0.90836765
73MP0002429_abnormal_blood_cell0.90358446
74MP0005166_decreased_susceptibility_to0.89167091
75MP0003075_altered_response_to0.87860106
76MP0004043_abnormal_pH_regulation0.86727158
77MP0000703_abnormal_thymus_morphology0.85840182
78MP0000678_abnormal_parathyroid_gland0.85512736
79MP0002722_abnormal_immune_system0.83930172
80MP0002876_abnormal_thyroid_physiology0.82154094
81MP0004484_altered_response_of0.81130304
82MP0003724_increased_susceptibility_to0.80778446
83MP0005647_abnormal_sex_gland0.80320605
84MP0005395_other_phenotype0.79444227
85MP0003115_abnormal_respiratory_system0.79265050
86MP0008995_early_reproductive_senescence0.77518980
87MP0008469_abnormal_protein_level0.77512237
88MP0004036_abnormal_muscle_relaxation0.76732567
89MP0002095_abnormal_skin_pigmentation0.76130263
90MP0001845_abnormal_inflammatory_respons0.74809052
91MP0009053_abnormal_anal_canal0.73592212
92MP0000689_abnormal_spleen_morphology0.73587056
93MP0003172_abnormal_lysosome_physiology0.72937216
94MP0003448_altered_tumor_morphology0.72203160
95MP0003942_abnormal_urinary_system0.71871577
96MP0002102_abnormal_ear_morphology0.71562373
97MP0003638_abnormal_response/metabolism_0.71121916
98MP0005377_hearing/vestibular/ear_phenot0.71113837
99MP0003878_abnormal_ear_physiology0.71113837
100MP0001853_heart_inflammation0.70818663
101MP0005310_abnormal_salivary_gland0.70297018
102MP0009763_increased_sensitivity_to0.70128878
103MP0002733_abnormal_thermal_nociception0.69982374
104MP0000569_abnormal_digit_pigmentation0.69177108
105MP0002693_abnormal_pancreas_physiology0.68720081
106MP0001968_abnormal_touch/_nociception0.67964612
107MP0005389_reproductive_system_phenotype0.67244792
108MP0009643_abnormal_urine_homeostasis0.66992624
109MP0003950_abnormal_plasma_membrane0.66992490
110MP0002127_abnormal_cardiovascular_syste0.66899429
111MP0004147_increased_porphyrin_level0.66419658
112MP0003633_abnormal_nervous_system0.65229472
113MP0000534_abnormal_ureter_morphology0.63470487
114MP0008057_abnormal_DNA_replication0.61566686
115MP0004742_abnormal_vestibular_system0.60166301
116MP0004885_abnormal_endolymph0.59948080
117MP0003699_abnormal_female_reproductive0.58045112
118MP0003011_delayed_dark_adaptation0.57843563
119MP0010094_abnormal_chromosome_stability0.53710699
120MP0009250_abnormal_appendicular_skeleto0.52054382
121MP0000749_muscle_degeneration0.50708537
122MP0003122_maternal_imprinting0.50368561
123MP0002269_muscular_atrophy0.50123920
124MP0005666_abnormal_adipose_tissue0.49907861
125MP0003959_abnormal_lean_body0.46304893
126MP0000639_abnormal_adrenal_gland0.46220145
127MP0004084_abnormal_cardiac_muscle0.45518422
128MP0009672_abnormal_birth_weight0.44763259
129MP0001119_abnormal_female_reproductive0.44627096
130MP0005636_abnormal_mineral_homeostasis0.42456378
131MP0002234_abnormal_pharynx_morphology0.41633195
132MP0003121_genomic_imprinting0.40864294
133MP0001324_abnormal_eye_pigmentation0.40726385
134MP0003868_abnormal_feces_composition0.39746495
135MP0004145_abnormal_muscle_electrophysio0.39395727
136MP0005551_abnormal_eye_electrophysiolog0.39363418
137MP0001348_abnormal_lacrimal_gland0.39358441
138MP0002928_abnormal_bile_duct0.39024485
139MP0003861_abnormal_nervous_system0.38974043
140MP0003948_abnormal_gas_homeostasis0.38346250
141MP0005253_abnormal_eye_physiology0.37470483
142MP0003943_abnormal_hepatobiliary_system0.36995922
143MP0004133_heterotaxia0.36742157
144MP0003787_abnormal_imprinting0.33721377
145MP0006072_abnormal_retinal_apoptosis0.33532866
146MP0001486_abnormal_startle_reflex0.33410558
147MP0000358_abnormal_cell_content/0.33027832
148MP0004270_analgesia0.32984363
149MP0002971_abnormal_brown_adipose0.31944922
150MP0006138_congestive_heart_failure0.31535791
151MP0002152_abnormal_brain_morphology0.31392534
152MP0010368_abnormal_lymphatic_system0.30769201
153MP0005503_abnormal_tendon_morphology0.29739580
154MP0008007_abnormal_cellular_replicative0.29591250
155MP0000955_abnormal_spinal_cord0.28074703
156MP0005391_vision/eye_phenotype0.27060810
157MP0003936_abnormal_reproductive_system0.26286275
158MP0009278_abnormal_bone_marrow0.25930094
159MP0001293_anophthalmia0.25661509
160MP0003329_amyloid_beta_deposits0.25644048
161MP0003123_paternal_imprinting0.25166178
162MP0001727_abnormal_embryo_implantation0.24634199
163MP0002229_neurodegeneration0.24196347
164MP0003119_abnormal_digestive_system0.23731854
165MP0010630_abnormal_cardiac_muscle0.23435212
166MP0001764_abnormal_homeostasis0.23302294
167MP0003385_abnormal_body_wall0.23162154
168MP0003786_premature_aging0.23048182
169MP0001545_abnormal_hematopoietic_system0.22946682
170MP0005397_hematopoietic_system_phenotyp0.22946682
171MP0006036_abnormal_mitochondrial_physio0.22546665
172MP0001730_embryonic_growth_arrest0.22381953
173MP0004130_abnormal_muscle_cell0.22013616
174MP0004087_abnormal_muscle_fiber0.21879301
175MP0002106_abnormal_muscle_physiology0.21720502
176MP0000432_abnormal_head_morphology0.21247979
177MP0003111_abnormal_nucleus_morphology0.21002285
178MP0000920_abnormal_myelination0.20180922
179MP0002752_abnormal_somatic_nervous0.20143814
180MP0001661_extended_life_span0.20082967
181MP0002169_no_abnormal_phenotype0.20027592

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory motile cilium physiology (HP:0012261)9.00528500
2Abnormal respiratory motile cilium morphology (HP:0005938)8.43081253
3Abnormal respiratory epithelium morphology (HP:0012253)8.43081253
4Rhinitis (HP:0012384)7.35204862
5Abnormal ciliary motility (HP:0012262)7.08563803
6Chronic bronchitis (HP:0004469)6.83296974
7Infertility (HP:0000789)6.37538146
8Severe visual impairment (HP:0001141)5.91808654
9Nasal polyposis (HP:0100582)5.80324170
10Abnormality of the nasal mucosa (HP:0000433)4.70915892
11Male infertility (HP:0003251)4.55524608
12IgG deficiency (HP:0004315)4.45929759
13Bronchitis (HP:0012387)4.33018582
14Aplastic anemia (HP:0001915)4.32215138
15Nephronophthisis (HP:0000090)4.24510862
16Bronchiectasis (HP:0002110)4.16467031
173-Methylglutaconic aciduria (HP:0003535)4.11797453
18Abnormal rod and cone electroretinograms (HP:0008323)4.10450431
19Hypoproteinemia (HP:0003075)3.65398150
20Generalized aminoaciduria (HP:0002909)3.58094997
21Abnormal spermatogenesis (HP:0008669)3.53666641
22Abnormality of the renal medulla (HP:0100957)3.51443310
23Renal Fanconi syndrome (HP:0001994)3.45379505
24Severe combined immunodeficiency (HP:0004430)3.39525708
25Autoimmune hemolytic anemia (HP:0001890)3.33559599
26Elevated erythrocyte sedimentation rate (HP:0003565)3.32794283
27Increased IgM level (HP:0003496)3.27987593
28Congenital stationary night blindness (HP:0007642)3.26756784
29Increased hepatocellular lipid droplets (HP:0006565)3.23836833
30T lymphocytopenia (HP:0005403)3.23724858
31Recurrent otitis media (HP:0000403)3.23381758
32Increased intramyocellular lipid droplets (HP:0012240)3.16994029
33Acute hepatic failure (HP:0006554)3.15222555
34Absent rod-and cone-mediated responses on ERG (HP:0007688)3.13625665
35Abnormality of macrophages (HP:0004311)3.11519304
36Lipid accumulation in hepatocytes (HP:0006561)3.00686242
37Recurrent sinusitis (HP:0011108)3.00525344
38Dicarboxylic aciduria (HP:0003215)2.99069645
39Abnormality of dicarboxylic acid metabolism (HP:0010995)2.99069645
40Tubulointerstitial fibrosis (HP:0005576)2.98766871
41Pancytopenia (HP:0001876)2.94007134
42Tubulointerstitial abnormality (HP:0001969)2.93421927
43Thyroiditis (HP:0100646)2.88675565
44Hyperglycinemia (HP:0002154)2.87780507
45Abnormality of T cell number (HP:0011839)2.86257934
46Abnormality of homocysteine metabolism (HP:0010919)2.83789193
47Homocystinuria (HP:0002156)2.83789193
48Impulsivity (HP:0100710)2.83590232
49Increased muscle lipid content (HP:0009058)2.72738140
50Exertional dyspnea (HP:0002875)2.72109830
51Hematochezia (HP:0002573)2.72020496
52Attenuation of retinal blood vessels (HP:0007843)2.68370710
53Recurrent bronchitis (HP:0002837)2.66166321
54Prolonged bleeding time (HP:0003010)2.64730123
55Combined immunodeficiency (HP:0005387)2.63874728
56Atrioventricular block (HP:0001678)2.60391720
57Abnormality of macular pigmentation (HP:0008002)2.59515900
58Abnormality of dentin (HP:0010299)2.55183519
59Tubular atrophy (HP:0000092)2.54159260
60Abnormality of the fovea (HP:0000493)2.51864692
61Prostate neoplasm (HP:0100787)2.48580620
62Tubulointerstitial nephritis (HP:0001970)2.47073918
63Acute encephalopathy (HP:0006846)2.42656192
64Hypoalbuminemia (HP:0003073)2.38071848
65Abnormal albumin level (HP:0012116)2.38071848
66Molar tooth sign on MRI (HP:0002419)2.37608089
67Abnormality of midbrain morphology (HP:0002418)2.37608089
68Ventricular tachycardia (HP:0004756)2.35704460
69Azoospermia (HP:0000027)2.31357577
70Abnormality of aspartate family amino acid metabolism (HP:0010899)2.31089012
71Abnormality of the renal cortex (HP:0011035)2.29030982
72Central scotoma (HP:0000603)2.28389988
73Abnormality of urine glucose concentration (HP:0011016)2.27774085
74Glycosuria (HP:0003076)2.27774085
75Abnormality of T cells (HP:0002843)2.26624575
76Encephalitis (HP:0002383)2.26304091
77Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.25785675
78Medial flaring of the eyebrow (HP:0010747)2.25589664
79Rhabdomyolysis (HP:0003201)2.24917797
80Petechiae (HP:0000967)2.23714626
81Bony spicule pigmentary retinopathy (HP:0007737)2.23064960
82Postaxial foot polydactyly (HP:0001830)2.21913323
83Methylmalonic acidemia (HP:0002912)2.21814518
84Acute necrotizing encephalopathy (HP:0006965)2.20186043
85Abnormality of renal resorption (HP:0011038)2.15976519
86Hypergammaglobulinemia (HP:0010702)2.13145719
87Gonadotropin excess (HP:0000837)2.12495951
88Cholecystitis (HP:0001082)2.12409654
89Abnormal gallbladder physiology (HP:0012438)2.12409654
90Decreased central vision (HP:0007663)2.10644247
91Pustule (HP:0200039)2.09845154
92Hyperlipoproteinemia (HP:0010980)2.09223226
93Gingival bleeding (HP:0000225)2.07380229
94Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.04250681
95Congenital hepatic fibrosis (HP:0002612)2.03615969
96Mitochondrial inheritance (HP:0001427)2.03581958
97Respiratory insufficiency due to defective ciliary clearance (HP:0200073)13.4509363
98Dynein arm defect of respiratory motile cilia (HP:0012255)12.5502714
99Absent/shortened dynein arms (HP:0200106)12.5502714
100Hyperphosphaturia (HP:0003109)1.98481567
101Absent thumb (HP:0009777)1.98304366
102Microglossia (HP:0000171)1.97602694
103Hypoplasia of the thymus (HP:0000778)1.96758325
104Abnormality of the parathyroid morphology (HP:0011766)1.95598326
105Abnormal mitochondria in muscle tissue (HP:0008316)1.94682676
106Pancreatic fibrosis (HP:0100732)1.94665605
107Hyponatremia (HP:0002902)1.93831950
108Abnormality of the dental pulp (HP:0006479)1.92908232
109Epistaxis (HP:0000421)1.91974284
110Stage 5 chronic kidney disease (HP:0003774)1.90945730
111Radial bowing (HP:0002986)1.90746816
112Abnormality of the prostate (HP:0008775)1.89600333
113Pendular nystagmus (HP:0012043)1.87840815
114Hyperammonemia (HP:0001987)1.87511341
115Abnormality of the neuromuscular junction (HP:0003398)1.87414085
116Fatigable weakness (HP:0003473)1.87414085
117Stomatitis (HP:0010280)1.86511341
118Hepatic necrosis (HP:0002605)1.86349604
119Progressive macrocephaly (HP:0004481)1.86344740
120Abnormality of renal excretion (HP:0011036)1.86063892
121Short ribs (HP:0000773)1.84617269
122Dyschromatopsia (HP:0007641)1.84613299
123Cellular immunodeficiency (HP:0005374)1.84053357
124Inflammation of the large intestine (HP:0002037)1.83572272
125Increased serum ferritin (HP:0003281)1.82600025
126Methylmalonic aciduria (HP:0012120)1.82355376
127Heart block (HP:0012722)1.82277474
128Eczematoid dermatitis (HP:0000976)1.81310432
129Limb hypertonia (HP:0002509)1.80265195
130Abnormal drinking behavior (HP:0030082)1.78509604
131Polydipsia (HP:0001959)1.78509604
132Areflexia of lower limbs (HP:0002522)1.76460288
133Abnormality of eosinophils (HP:0001879)1.76338245
134IgM deficiency (HP:0002850)1.76285287
135Spastic tetraparesis (HP:0001285)1.73365109
136Abnormal urine output (HP:0012590)1.72848887
137Duodenal stenosis (HP:0100867)1.71923086
138Small intestinal stenosis (HP:0012848)1.71923086
139Abnormality of fatty-acid metabolism (HP:0004359)1.71804012
140J-shaped sella turcica (HP:0002680)1.71142469
141Choroideremia (HP:0001139)1.70083663
142Hypoplasia of the capital femoral epiphysis (HP:0003090)1.69769427
143Abnormal biliary tract physiology (HP:0012439)1.67143975
144Bile duct proliferation (HP:0001408)1.67143975
145Renal dysplasia (HP:0000110)1.66261476
146Aplasia/Hypoplasia of the tongue (HP:0010295)1.64620448
147Postaxial hand polydactyly (HP:0001162)1.60429882
148Polyuria (HP:0000103)1.58336763
149Deformed sella turcica (HP:0002681)1.58026226
150Cystic liver disease (HP:0006706)1.58021551
151Heterotopia (HP:0002282)1.56782090
152True hermaphroditism (HP:0010459)1.53810340
153Fibular hypoplasia (HP:0003038)1.53599225
154Neurofibrillary tangles (HP:0002185)1.53478964
155Absent frontal sinuses (HP:0002688)1.51833431
156Facial cleft (HP:0002006)1.50979382
157Median cleft lip (HP:0000161)1.50840706
158Peripheral hypomyelination (HP:0007182)1.47508936
159Abnormality of permanent molar morphology (HP:0011071)1.46887281
160Abnormality of the dental root (HP:0006486)1.46887281
161Taurodontia (HP:0000679)1.46887281
162Aplasia/Hypoplasia of the fibula (HP:0006492)1.45708957
163Abnormality of the lower motor neuron (HP:0002366)1.44672942
164Bell-shaped thorax (HP:0001591)1.44655998
165Double outlet right ventricle (HP:0001719)1.44584049
166Congenital malformation of the right heart (HP:0011723)1.44584049
167Aplasia/Hypoplasia of the lens (HP:0008063)1.38691755
168Abnormality of molar (HP:0011077)1.38542240
169Abnormality of molar morphology (HP:0011070)1.38542240
170Oligodactyly (hands) (HP:0001180)1.36205801
171Ectopic kidney (HP:0000086)1.35134278
172Asymmetric septal hypertrophy (HP:0001670)1.34315783
173Nephroblastoma (Wilms tumor) (HP:0002667)1.34214142
174Short thorax (HP:0010306)1.31604518
175Cerebellar dysplasia (HP:0007033)1.29886256
176Absent epiphyses (HP:0010577)1.28175431
177Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.28175431
178Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.27655622
179Hemorrhage of the eye (HP:0011885)1.26442979
180Oculomotor apraxia (HP:0000657)1.26422778
181Hyperkalemia (HP:0002153)1.26372747
182Decreased motor nerve conduction velocity (HP:0003431)1.26098698
183EMG: neuropathic changes (HP:0003445)1.25651641
184Decreased electroretinogram (ERG) amplitude (HP:0000654)1.25324323
185Embryonal renal neoplasm (HP:0011794)1.25299376
186Abnormality of the sella turcica (HP:0002679)1.23501426
187Nephropathy (HP:0000112)1.23500052
188Supernumerary spleens (HP:0009799)1.22739078
189Occipital encephalocele (HP:0002085)1.22492448
190Short femoral neck (HP:0100864)1.21788048

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK37.62586942
2PDK47.62586942
3TESK16.01124249
4KDR5.83468629
5PRKD35.51706167
6PDK24.89167892
7TXK4.46580504
8ICK4.07144672
9TESK23.82967078
10VRK23.03887452
11WNK42.98499594
12STK392.87817692
13PTK2B2.58862701
14BCKDK2.51152895
15NEK92.28644946
16MAP3K122.23824639
17TNK22.07286061
18TAOK32.01433736
19PNCK1.97278186
20CDK191.94218305
21MAP4K21.74232950
22SCYL21.72404450
23MYLK1.72395403
24LRRK21.70900179
25BTK1.66394497
26STK381.63162365
27ITK1.59981260
28MAP3K111.55003242
29WNK11.53429618
30NEK21.50947418
31INSRR1.47619995
32TLK11.44091899
33GRK61.40024226
34TEC1.33061550
35ADRBK21.31113538
36SYK1.27342686
37DYRK1B1.23965214
38VRK11.23271594
39PDK11.18592315
40BUB11.17322228
41PIK3CG1.16122310
42MUSK1.12796957
43ILK1.12723110
44FES1.05825205
45ZAP701.01345692
46MAPK151.00945490
47CSK1.00677909
48DDR20.99677831
49ROCK10.97828769
50HCK0.92664460
51BRSK20.92609269
52TYRO30.88834311
53FRK0.86396292
54LIMK10.86167920
55TTK0.85451635
56STK30.84584110
57CSF1R0.82997712
58STK38L0.81233478
59WNK30.80222535
60LYN0.80042537
61TRIB30.79409165
62PDPK10.76387510
63GRK70.75459223
64PASK0.75196125
65RPS6KA50.75159284
66NEK60.72288397
67DYRK30.68720073
68LCK0.62614254
69WEE10.62384586
70CHEK20.60598844
71CAMK1G0.60279974
72RPS6KA40.59961563
73JAK30.59750317
74BRSK10.56128963
75TRPM70.55962264
76OBSCN0.54610825
77PLK40.52090732
78TAOK10.50581247
79IGF1R0.47532943
80PLK20.47059225
81ADRBK10.44425939
82DAPK30.44088868
83ERBB20.44018102
84CHEK10.43289119
85BMPR1B0.41018980
86NME10.40921405
87CCNB10.40250861
88IRAK10.40112814
89PAK10.38980018
90ACVR1B0.38930479
91KIT0.38138320
92LMTK20.38075304
93PKN20.35894898
94MARK20.35131719
95MAP2K70.34281056
96NTRK20.34218516
97FYN0.33404476
98JAK10.32378770
99OXSR10.31100635
100PRKCG0.30477347
101MAP2K60.30455581
102ATR0.30108139
103PIM10.29888290
104PLK10.29829173
105ERBB30.29759295
106ABL10.29333911
107PAK20.29195446
108RPS6KB10.29019174
109PRKCA0.28467746
110MTOR0.28423426
111CDC42BPA0.27240468
112CLK10.26624211
113EEF2K0.25500527
114PRKACA0.25499606
115SRC0.25442458
116CAMKK20.25273845
117BRAF0.25238416
118ATM0.24617856
119AURKA0.23510123
120PIK3CA0.22979790
121PRKAA10.22961069
122RIPK40.22043546
123TAOK20.21731017
124CAMKK10.20738787
125CASK0.20418813
126BLK0.20201626
127CDK30.20188951
128STK160.19205115
129PINK10.19170907
130INSR0.17082273
131TBK10.16035503
132PKN10.15109816
133MAP3K30.15070802
134IKBKB0.14151783
135MARK30.13827843
136CDC70.13461151
137EIF2AK20.13069426
138PRKCQ0.12749422
139MAPK30.12698735
140ZAK0.11861609
141EPHB10.11331744
142CSNK1A10.11260936
143TGFBR20.10737991
144CAMK2A0.10228366
145TIE10.10143203
146GRK10.09590365
147GSK3B0.08430168
148MAP3K40.08378892
149MAP4K10.07986099
150CAMK10.06655502
151CSNK1D0.06638062
152MAPKAPK50.06140861
153LATS10.06087240
154IRAK20.05635167
155CDK150.05105446
156CDK10.05086745
157PRKG10.04786585
158PRKCZ0.04545893
159MAP3K100.03856405
160MAP3K10.03814920
161CSNK2A10.03511255
162YES10.03371814
163SIK20.03364680
164SRPK10.03350247
165CDK180.03349293
166STK110.02673746
167PRKCB0.02448467
168AKT30.02390478
169MAPK80.01707252
170MAPK100.00739919
171CDK11A0.00417444
172CDK2-0.0058981

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053405.16560364
2Glycolysis / Gluconeogenesis_Homo sapiens_hsa000104.34893428
3Fatty acid biosynthesis_Homo sapiens_hsa000614.12083627
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.56106941
5alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.33298875
6Linoleic acid metabolism_Homo sapiens_hsa005913.25906525
7Pyruvate metabolism_Homo sapiens_hsa006203.23008205
8Vitamin B6 metabolism_Homo sapiens_hsa007503.10041453
9Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.93749903
10Oxidative phosphorylation_Homo sapiens_hsa001902.86176367
11Propanoate metabolism_Homo sapiens_hsa006402.80136355
12Malaria_Homo sapiens_hsa051442.62515345
13Glucagon signaling pathway_Homo sapiens_hsa049222.61926273
14Phototransduction_Homo sapiens_hsa047442.58082246
15Parkinsons disease_Homo sapiens_hsa050122.56182601
16Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.53851604
17Proteasome_Homo sapiens_hsa030502.48697593
18Ribosome_Homo sapiens_hsa030102.45680275
19Hematopoietic cell lineage_Homo sapiens_hsa046402.34610157
20Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.26861453
21T cell receptor signaling pathway_Homo sapiens_hsa046602.25745001
22Primary bile acid biosynthesis_Homo sapiens_hsa001202.18558276
23Graft-versus-host disease_Homo sapiens_hsa053322.13972797
24Basal transcription factors_Homo sapiens_hsa030222.07426142
25Carbohydrate digestion and absorption_Homo sapiens_hsa049732.00488967
26Autoimmune thyroid disease_Homo sapiens_hsa053201.94225209
27Fanconi anemia pathway_Homo sapiens_hsa034601.93900661
28Pentose phosphate pathway_Homo sapiens_hsa000301.92432774
29Oocyte meiosis_Homo sapiens_hsa041141.91675463
30Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.91082550
31Glycerolipid metabolism_Homo sapiens_hsa005611.90237318
32Peroxisome_Homo sapiens_hsa041461.88937620
33Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.88734771
34Allograft rejection_Homo sapiens_hsa053301.86050728
35Ether lipid metabolism_Homo sapiens_hsa005651.84935343
36Type I diabetes mellitus_Homo sapiens_hsa049401.82918055
37Selenocompound metabolism_Homo sapiens_hsa004501.76255834
38Cardiac muscle contraction_Homo sapiens_hsa042601.71085934
39PPAR signaling pathway_Homo sapiens_hsa033201.69769178
40Olfactory transduction_Homo sapiens_hsa047401.60982673
41SNARE interactions in vesicular transport_Homo sapiens_hsa041301.60560962
42Alzheimers disease_Homo sapiens_hsa050101.60472790
43Dorso-ventral axis formation_Homo sapiens_hsa043201.59527290
44Glycerophospholipid metabolism_Homo sapiens_hsa005641.54722778
45Amphetamine addiction_Homo sapiens_hsa050311.50810079
46Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.49372503
47Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.44486501
48Fructose and mannose metabolism_Homo sapiens_hsa000511.43213432
49Carbon metabolism_Homo sapiens_hsa012001.39017101
50Fat digestion and absorption_Homo sapiens_hsa049751.38540679
51Glycosaminoglycan degradation_Homo sapiens_hsa005311.38098881
52Fatty acid metabolism_Homo sapiens_hsa012121.37967174
53Nitrogen metabolism_Homo sapiens_hsa009101.36917934
54Measles_Homo sapiens_hsa051621.33513556
55Mineral absorption_Homo sapiens_hsa049781.32696008
56Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.32177697
57Retinol metabolism_Homo sapiens_hsa008301.29946440
58Fatty acid degradation_Homo sapiens_hsa000711.27340364
59Hedgehog signaling pathway_Homo sapiens_hsa043401.25493797
60Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.24568546
61Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.21573315
62Huntingtons disease_Homo sapiens_hsa050161.11613520
63Butanoate metabolism_Homo sapiens_hsa006501.07633946
64Renin secretion_Homo sapiens_hsa049241.06370767
65Intestinal immune network for IgA production_Homo sapiens_hsa046721.05041846
66Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.02910175
67Arachidonic acid metabolism_Homo sapiens_hsa005901.00161320
68Purine metabolism_Homo sapiens_hsa002300.99623609
69Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.99412879
70Insulin secretion_Homo sapiens_hsa049110.96023686
71mRNA surveillance pathway_Homo sapiens_hsa030150.95439572
72Platelet activation_Homo sapiens_hsa046110.94923382
73Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.92573086
74Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.91636580
75Biosynthesis of amino acids_Homo sapiens_hsa012300.90962385
76Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.90086830
77ABC transporters_Homo sapiens_hsa020100.87896404
78Viral myocarditis_Homo sapiens_hsa054160.86074461
79Morphine addiction_Homo sapiens_hsa050320.82381808
80Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.80577005
81cGMP-PKG signaling pathway_Homo sapiens_hsa040220.78719933
82Cysteine and methionine metabolism_Homo sapiens_hsa002700.78536941
83RNA transport_Homo sapiens_hsa030130.77866407
84Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.76946428
85Renin-angiotensin system_Homo sapiens_hsa046140.73267352
86Antigen processing and presentation_Homo sapiens_hsa046120.72945484
87Sulfur relay system_Homo sapiens_hsa041220.69963523
88Thyroid hormone synthesis_Homo sapiens_hsa049180.69877024
89Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.69381122
90Nicotine addiction_Homo sapiens_hsa050330.68536056
91Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.68402294
92Long-term potentiation_Homo sapiens_hsa047200.67912771
93Alcoholism_Homo sapiens_hsa050340.66477946
94Estrogen signaling pathway_Homo sapiens_hsa049150.65804414
95Protein digestion and absorption_Homo sapiens_hsa049740.65194403
96Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.64628667
97AMPK signaling pathway_Homo sapiens_hsa041520.63846077
98Glutathione metabolism_Homo sapiens_hsa004800.62596170
99Vascular smooth muscle contraction_Homo sapiens_hsa042700.62193117
100Calcium signaling pathway_Homo sapiens_hsa040200.60296368
101Bile secretion_Homo sapiens_hsa049760.60159033
102Adipocytokine signaling pathway_Homo sapiens_hsa049200.59541548
103Caffeine metabolism_Homo sapiens_hsa002320.58952535
104Basal cell carcinoma_Homo sapiens_hsa052170.57821616
105Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.56668287
106Homologous recombination_Homo sapiens_hsa034400.56419746
107Serotonergic synapse_Homo sapiens_hsa047260.56006755
108Sulfur metabolism_Homo sapiens_hsa009200.55871215
109Central carbon metabolism in cancer_Homo sapiens_hsa052300.55760625
110Pentose and glucuronate interconversions_Homo sapiens_hsa000400.54952425
111Pancreatic secretion_Homo sapiens_hsa049720.54659433
112Jak-STAT signaling pathway_Homo sapiens_hsa046300.53060748
113Shigellosis_Homo sapiens_hsa051310.52818043
114Lysine degradation_Homo sapiens_hsa003100.52237997
115Salivary secretion_Homo sapiens_hsa049700.52195671
116Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.49702510
117NF-kappa B signaling pathway_Homo sapiens_hsa040640.49296539
118Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.47813338
119Taste transduction_Homo sapiens_hsa047420.46467160
120Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.45800204
121Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.45532826
122Chemical carcinogenesis_Homo sapiens_hsa052040.45303024
123Rheumatoid arthritis_Homo sapiens_hsa053230.44396194
124Chemokine signaling pathway_Homo sapiens_hsa040620.44257486
125Viral carcinogenesis_Homo sapiens_hsa052030.41638635
126cAMP signaling pathway_Homo sapiens_hsa040240.41439303
127Cocaine addiction_Homo sapiens_hsa050300.41398679
128Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.41068146
129Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.39668495
130Ovarian steroidogenesis_Homo sapiens_hsa049130.37707019
131Leukocyte transendothelial migration_Homo sapiens_hsa046700.37602151
132Phosphatidylinositol signaling system_Homo sapiens_hsa040700.37339970
133Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.36547720
134Metabolic pathways_Homo sapiens_hsa011000.36512465
135Endocytosis_Homo sapiens_hsa041440.36474327
136Inositol phosphate metabolism_Homo sapiens_hsa005620.35085432
137Staphylococcus aureus infection_Homo sapiens_hsa051500.33441895
138Cell cycle_Homo sapiens_hsa041100.33367330
139GABAergic synapse_Homo sapiens_hsa047270.33233422
140Thyroid hormone signaling pathway_Homo sapiens_hsa049190.32968949
141Steroid hormone biosynthesis_Homo sapiens_hsa001400.32609080
142Osteoclast differentiation_Homo sapiens_hsa043800.32219523
143Circadian entrainment_Homo sapiens_hsa047130.31653256
144Maturity onset diabetes of the young_Homo sapiens_hsa049500.29762425
145Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.29727982
146Ras signaling pathway_Homo sapiens_hsa040140.28221135
147One carbon pool by folate_Homo sapiens_hsa006700.28118954
148Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.26815492
149HTLV-I infection_Homo sapiens_hsa051660.26590602
150Gastric acid secretion_Homo sapiens_hsa049710.26235613
151Systemic lupus erythematosus_Homo sapiens_hsa053220.25146850
152Wnt signaling pathway_Homo sapiens_hsa043100.24544016
153RNA degradation_Homo sapiens_hsa030180.24428934
154Regulation of actin cytoskeleton_Homo sapiens_hsa048100.23018335
155Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.22985117
156MAPK signaling pathway_Homo sapiens_hsa040100.22409997
157Herpes simplex infection_Homo sapiens_hsa051680.22188576
158Type II diabetes mellitus_Homo sapiens_hsa049300.20902617
159Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.20892930
160Transcriptional misregulation in cancer_Homo sapiens_hsa052020.19451810
161Tight junction_Homo sapiens_hsa045300.18689584
162Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.18660595
163Glutamatergic synapse_Homo sapiens_hsa047240.18581583
164Legionellosis_Homo sapiens_hsa051340.17184509
165Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.14966839
166Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.13907892
167Aldosterone synthesis and secretion_Homo sapiens_hsa049250.13709339

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