PKDREJ

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 intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sperm-egg recognition (GO:0035036)9.40611557
2axonemal dynein complex assembly (GO:0070286)9.36634515
3acrosome assembly (GO:0001675)9.36277692
4multicellular organism reproduction (GO:0032504)9.08429560
5cell wall macromolecule catabolic process (GO:0016998)8.78284463
6cell wall macromolecule metabolic process (GO:0044036)8.78284463
7piRNA metabolic process (GO:0034587)8.76455770
8binding of sperm to zona pellucida (GO:0007339)8.58826897
9plasma membrane fusion (GO:0045026)8.55704220
10epithelial cilium movement (GO:0003351)8.53616973
11* acrosome reaction (GO:0007340)8.50461389
12motile cilium assembly (GO:0044458)8.46266687
13cell-cell recognition (GO:0009988)8.39839300
14spermatid development (GO:0007286)7.82104429
15reproduction (GO:0000003)7.52158480
16male meiosis (GO:0007140)7.40684391
17cilium movement (GO:0003341)7.35006894
18epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.23075029
19synaptonemal complex organization (GO:0070193)6.89477338
20regulation of cilium movement (GO:0003352)6.79669807
21synaptonemal complex assembly (GO:0007130)6.51206026
22sperm capacitation (GO:0048240)6.19316764
23histone H3-K4 trimethylation (GO:0080182)6.12943198
24single fertilization (GO:0007338)6.06427944
25nuclear pore complex assembly (GO:0051292)5.61764431
26negative regulation of inclusion body assembly (GO:0090084)5.49739169
27histone-serine phosphorylation (GO:0035404)5.42764811
28organic cation transport (GO:0015695)5.40350930
29DNA methylation involved in gamete generation (GO:0043046)5.35936683
30fertilization (GO:0009566)5.20025716
31male meiosis I (GO:0007141)5.18282036
32spermatogenesis (GO:0007283)5.04431116
33male gamete generation (GO:0048232)5.02111767
34carnitine transmembrane transport (GO:1902603)4.87116332
35carnitine transport (GO:0015879)4.79640505
36amino-acid betaine transport (GO:0015838)4.79640505
37histone H2B ubiquitination (GO:0033523)4.76020452
38nuclear pore organization (GO:0006999)4.60735733
39gamete generation (GO:0007276)4.59805206
40ventricular system development (GO:0021591)4.57385756
41regulation of inclusion body assembly (GO:0090083)4.57127454
42chromosome organization involved in meiosis (GO:0070192)4.51406964
43pre-miRNA processing (GO:0031054)4.47134993
44cellular process involved in reproduction in multicellular organism (GO:0022412)4.41711636
45germ cell development (GO:0007281)4.37531665
46positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)4.34781025
47peptidyl-lysine trimethylation (GO:0018023)4.23107950
48positive regulation of histone H3-K4 methylation (GO:0051571)4.22495895
49seminiferous tubule development (GO:0072520)4.21225901
50meiotic nuclear division (GO:0007126)4.20156503
51pore complex assembly (GO:0046931)4.10612463
52microtubule depolymerization (GO:0007019)4.09910789
53regulation of histone H3-K4 methylation (GO:0051569)4.08038774
54meiotic chromosome segregation (GO:0045132)4.06002001
55cell recognition (GO:0008037)4.05127143
56meiosis I (GO:0007127)4.04506349
57histone phosphorylation (GO:0016572)4.03317497
58DNA unwinding involved in DNA replication (GO:0006268)4.02824475
59histone H3-K4 methylation (GO:0051568)4.01032379
60fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.00952548
61regulation of skeletal muscle contraction (GO:0014819)3.98586558
62interkinetic nuclear migration (GO:0022027)3.98442609
63positive regulation of mitotic sister chromatid separation (GO:1901970)3.97068721
64positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.97068721
65positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.97068721
66regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.94272071
67left/right pattern formation (GO:0060972)3.86246166
68interleukin-6-mediated signaling pathway (GO:0070102)3.85547155
69* calcium ion-dependent exocytosis (GO:0017156)3.84616851
70regulation of microtubule-based movement (GO:0060632)3.81889682
71meiotic cell cycle (GO:0051321)3.69854843
72multicellular organismal reproductive process (GO:0048609)3.64891807
73protein localization to cilium (GO:0061512)3.63903093
74response to vitamin A (GO:0033189)3.60452335
75regulation of centrosome cycle (GO:0046605)3.58889111
76microtubule severing (GO:0051013)3.58796318
77quaternary ammonium group transport (GO:0015697)3.57175894
78peptidyl-glutamic acid carboxylation (GO:0017187)3.56409741
79protein carboxylation (GO:0018214)3.56409741
80positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)3.56313694
81protein localization to microtubule cytoskeleton (GO:0072698)3.53856998
82regulation of sister chromatid cohesion (GO:0007063)3.53659984
83chaperone-mediated protein complex assembly (GO:0051131)3.51089701
84carnitine shuttle (GO:0006853)3.47166572
85peptidyl-lysine methylation (GO:0018022)3.46927884
86regulation of spindle organization (GO:0090224)3.45601670
87definitive hemopoiesis (GO:0060216)3.44128606
88histone H3-K9 demethylation (GO:0033169)3.41708514
89positive regulation of DNA-templated transcription, initiation (GO:2000144)3.39423186
90spinal cord motor neuron differentiation (GO:0021522)3.35055778
91spindle assembly (GO:0051225)3.33670373
92alditol metabolic process (GO:0019400)3.33582362
93peptidyl-glutamic acid modification (GO:0018200)3.31172962
94histone H3-K9 methylation (GO:0051567)3.29583704
95genitalia morphogenesis (GO:0035112)3.29484974
96amino-acid betaine metabolic process (GO:0006577)3.28053130
97histone H3-K36 demethylation (GO:0070544)3.28043055
98aspartate family amino acid catabolic process (GO:0009068)3.27924227
99fatty acid transmembrane transport (GO:1902001)3.25706110
100monoubiquitinated protein deubiquitination (GO:0035520)3.22787976
101chromosome condensation (GO:0030261)3.22399138
102glycerol ether metabolic process (GO:0006662)3.21803755
103histone lysine methylation (GO:0034968)3.21272017
104lactate metabolic process (GO:0006089)3.20832611
105reciprocal DNA recombination (GO:0035825)3.19638223
106reciprocal meiotic recombination (GO:0007131)3.19638223
107very-low-density lipoprotein particle assembly (GO:0034379)3.18057928
108positive regulation of DNA-templated transcription, elongation (GO:0032786)3.17267171
109positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)3.17214421
110positive regulation of cell cycle G2/M phase transition (GO:1902751)3.17214421
111negative regulation of erythrocyte differentiation (GO:0045647)3.14502785
112misfolded or incompletely synthesized protein catabolic process (GO:0006515)3.11283573
113DNA replication initiation (GO:0006270)3.10532873
114negative regulation of organelle assembly (GO:1902116)3.10147217
115DNA duplex unwinding (GO:0032508)3.06668123
116DNA packaging (GO:0006323)3.05028705
117gene silencing by RNA (GO:0031047)3.04701130
118glycerol metabolic process (GO:0006071)3.04624303
119histone H3-K9 modification (GO:0061647)3.04603062
120alpha-linolenic acid metabolic process (GO:0036109)3.04463200
121tricarboxylic acid cycle (GO:0006099)3.03998059
122urea metabolic process (GO:0019627)3.01339926
123urea cycle (GO:0000050)3.01339926
124protein localization to cytoskeleton (GO:0044380)3.00153199
125regulation of cell maturation (GO:1903429)2.98293459
126protein polyglutamylation (GO:0018095)2.98101635
127spermatid nucleus differentiation (GO:0007289)2.95954798
128positive regulation of chromosome segregation (GO:0051984)2.95802528
129mitotic sister chromatid cohesion (GO:0007064)2.94722325
130ether metabolic process (GO:0018904)2.94347885
131multicellular organismal development (GO:0007275)2.91448636
132mRNA stabilization (GO:0048255)2.90897851
133RNA stabilization (GO:0043489)2.90897851
134DNA geometric change (GO:0032392)2.90642965
135epithelial cell fate commitment (GO:0072148)2.88639767
136DNA conformation change (GO:0071103)2.87600714
137spindle organization (GO:0007051)2.87103052
138erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.86759755
139L-phenylalanine catabolic process (GO:0006559)2.86759755
140regulation of histone methylation (GO:0031060)2.85885742
141carnitine metabolic process (GO:0009437)2.84808407
142glycolytic process (GO:0006096)2.84552293
143centrosome localization (GO:0051642)2.83953100
144peptidyl-threonine dephosphorylation (GO:0035970)2.80020226
145inner cell mass cell proliferation (GO:0001833)2.79647324
146protein K48-linked deubiquitination (GO:0071108)2.78509934
147protein K11-linked deubiquitination (GO:0035871)2.78116684
148regulation of histone H3-K9 methylation (GO:0051570)2.74282531
149intraciliary transport (GO:0042073)2.74256273
150heterochromatin organization (GO:0070828)2.73666302
151nitrogen cycle metabolic process (GO:0071941)2.73227730
152peptidyl-lysine dimethylation (GO:0018027)2.73201802
153DNA synthesis involved in DNA repair (GO:0000731)2.72530704
154fructose metabolic process (GO:0006000)2.71713679
155polyol catabolic process (GO:0046174)2.71650871
156regulation of pigment cell differentiation (GO:0050932)2.70737899
157granulocyte differentiation (GO:0030851)2.70688353
158axoneme assembly (GO:0035082)2.68942752
159regulation of DNA endoreduplication (GO:0032875)2.68615822
160microtubule-based movement (GO:0007018)2.65040086
161type B pancreatic cell development (GO:0003323)2.64747572
162mitotic chromosome condensation (GO:0007076)2.64393713
163regulation of centriole replication (GO:0046599)2.63363776
164histone monoubiquitination (GO:0010390)2.62091421
165positive regulation of histone methylation (GO:0031062)2.61678039
166synapsis (GO:0007129)2.59802108
167erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.59028756
168L-phenylalanine metabolic process (GO:0006558)2.59028756
169bile acid biosynthetic process (GO:0006699)2.58662292
170mRNA cleavage (GO:0006379)2.58613190
171histone lysine demethylation (GO:0070076)2.58100366
172sister chromatid cohesion (GO:0007062)2.58031074
173aromatic amino acid family catabolic process (GO:0009074)2.57530183
174meiotic cell cycle process (GO:1903046)2.56576138
175regulation of triglyceride catabolic process (GO:0010896)2.56359391
176cilium organization (GO:0044782)2.55015886
177complement activation, alternative pathway (GO:0006957)2.54830334
178lysine metabolic process (GO:0006553)2.53282375
179lysine catabolic process (GO:0006554)2.53282375
180centriole assembly (GO:0098534)2.50490313
181cytoplasmic mRNA processing body assembly (GO:0033962)2.50335625
182cellular component assembly involved in morphogenesis (GO:0010927)2.50236347
183histone methylation (GO:0016571)2.49503637
184regulation of NFAT protein import into nucleus (GO:0051532)2.46668909
185pinocytosis (GO:0006907)2.46544077
186regulation of cell cycle checkpoint (GO:1901976)2.45847057
187chromatin assembly (GO:0031497)2.45488724
188histone demethylation (GO:0016577)2.44351697
189regulation of DNA damage checkpoint (GO:2000001)2.44177885
190regulation of gene expression by genetic imprinting (GO:0006349)2.43319307
191regulation of translational fidelity (GO:0006450)2.42571229
192corticosteroid receptor signaling pathway (GO:0031958)2.42387885
193cilium or flagellum-dependent cell motility (GO:0001539)12.7291142
194fusion of sperm to egg plasma membrane (GO:0007342)11.1283088
195sperm motility (GO:0030317)10.7075719

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human9.66060257
2MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse8.87573262
3EZH2_22144423_ChIP-Seq_EOC_Human4.93451363
4GATA1_22025678_ChIP-Seq_K562_Human4.08947860
5FOXM1_23109430_ChIP-Seq_U2OS_Human3.86246606
6BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.82538627
7TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.79692153
8ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.14585512
9CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human3.02693719
10PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.99410646
11SCL_19346495_ChIP-Seq_HPC-7_Human2.79180240
12DMRT1_21621532_ChIP-ChIP_FETAL_Ovary2.58624825
13GATA1_19941826_ChIP-Seq_K562_Human2.55843265
14AR_21909140_ChIP-Seq_LNCAP_Human2.35892004
15NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.23844927
16GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.19925681
17RXR_22158963_ChIP-Seq_LIVER_Mouse2.15800805
18LXR_22158963_ChIP-Seq_LIVER_Mouse2.14950632
19EGR1_23403033_ChIP-Seq_LIVER_Mouse2.11127409
20VDR_21846776_ChIP-Seq_THP-1_Human2.09656213
21KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.06206102
22E2F4_17652178_ChIP-ChIP_JURKAT_Human2.00447371
23MYC_22102868_ChIP-Seq_BL_Human1.99709951
24PPARA_22158963_ChIP-Seq_LIVER_Mouse1.96174894
25NFIB_24661679_ChIP-Seq_LUNG_Mouse1.95839363
26ZNF274_21170338_ChIP-Seq_K562_Hela1.92389920
27EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.89935215
28FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.88266290
29CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.86661783
30VDR_22108803_ChIP-Seq_LS180_Human1.86561562
31EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.82319630
32KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.81835899
33FLI1_27457419_Chip-Seq_LIVER_Mouse1.78292067
34TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.75599720
35ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.74895201
36ELK4_26923725_Chip-Seq_MESODERM_Mouse1.72051719
37GATA2_19941826_ChIP-Seq_K562_Human1.71162160
38CTNNB1_20460455_ChIP-Seq_HCT116_Human1.70955602
39PCGF2_27294783_Chip-Seq_ESCs_Mouse1.67467012
40P68_20966046_ChIP-Seq_HELA_Human1.64340904
41SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.62142415
42STAT1_17558387_ChIP-Seq_HELA_Human1.59360796
43GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.58365244
44RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.55289306
45RARG_19884340_ChIP-ChIP_MEFs_Mouse1.49143471
46FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.48115868
47TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.46967779
48TP53_22127205_ChIP-Seq_IMR90_Human1.46677942
49E2F1_21310950_ChIP-Seq_MCF-7_Human1.46543218
50* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.45446597
51KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.45174604
52NFE2_27457419_Chip-Seq_LIVER_Mouse1.43139161
53FOXA2_19822575_ChIP-Seq_HepG2_Human1.42770450
54E2F1_20622854_ChIP-Seq_HELA_Human1.41271731
55IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.39767901
56CBP_20019798_ChIP-Seq_JUKART_Human1.39767901
57LXR_22292898_ChIP-Seq_THP-1_Human1.38793892
58PCGF2_27294783_Chip-Seq_NPCs_Mouse1.36722936
59MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.35259565
60NCOR1_26117541_ChIP-Seq_K562_Human1.34636172
61GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.34059125
62TCF7_22412390_ChIP-Seq_EML_Mouse1.33879642
63KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.33485562
64GATA1_26923725_Chip-Seq_HPCs_Mouse1.33255333
65KAP1_22055183_ChIP-Seq_ESCs_Mouse1.31331217
66GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.30469241
67SUZ12_27294783_Chip-Seq_NPCs_Mouse1.30244832
68WDR5_24793694_ChIP-Seq_LNCAP_Human1.29921087
69* RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.28908787
70FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.28132559
71MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.26614989
72KDM2B_26808549_Chip-Seq_REH_Human1.25978969
73TAL1_26923725_Chip-Seq_HPCs_Mouse1.25304232
74DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.24946137
75ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.24850324
76REST_21632747_ChIP-Seq_MESCs_Mouse1.24594803
77CBX2_27304074_Chip-Seq_ESCs_Mouse1.22976107
78VDR_24763502_ChIP-Seq_THP-1_Human1.21941817
79VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.19313990
80RUNX1_27514584_Chip-Seq_MCF-7_Human1.19009797
81CREB1_26743006_Chip-Seq_LNCaP_Human1.17041670
82PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.16472253
83UBF1/2_26484160_Chip-Seq_HMECs_Human1.16164469
84CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.16069271
85GATA1_19941827_ChIP-Seq_MEL_Mouse1.15818033
86TP63_19390658_ChIP-ChIP_HaCaT_Human1.15693932
87NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.15577137
88CRX_20693478_ChIP-Seq_RETINA_Mouse1.15174771
89CTCF_21964334_Chip-Seq_Bcells_Human1.14842852
90LUZP1_20508642_ChIP-Seq_ESCs_Mouse1.14714359
91RAD21_21589869_ChIP-Seq_MESCs_Mouse1.14573630
92GATA3_21867929_ChIP-Seq_CD8_Mouse1.13528020
93FLI1_21867929_ChIP-Seq_TH2_Mouse1.13449127
94PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.12831227
95CTBP2_25329375_ChIP-Seq_LNCAP_Human1.12635824
96SALL1_21062744_ChIP-ChIP_HESCs_Human1.09931310
97TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.09923676
98EP300_21415370_ChIP-Seq_HL-1_Mouse1.09114573
99* SOX2_22085726_ChIP-Seq_NPCs_Mouse1.08934106
100CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.08024787
101CHD1_26751641_Chip-Seq_LNCaP_Human1.07745971
102KDM2B_26808549_Chip-Seq_JURKAT_Human1.07616076
103CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.07222023
104MAF_26560356_Chip-Seq_TH1_Human1.05680439
105EGR1_19374776_ChIP-ChIP_THP-1_Human1.05648961
106EZH2_27294783_Chip-Seq_NPCs_Mouse1.05615862
107OCT4_21477851_ChIP-Seq_ESCs_Mouse1.05411450
108BCAT_22108803_ChIP-Seq_LS180_Human1.05337571
109SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.05270740
110CTCF_27219007_Chip-Seq_ERYTHROID_Human1.05167447
111KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.05021129
112TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04959403
113POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.04959403
114PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.04939408
115PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.04801539
116PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.04217374
117P53_21459846_ChIP-Seq_SAOS-2_Human1.03517774
118STAT6_21828071_ChIP-Seq_BEAS2B_Human1.03371413
119OCT4_18555785_Chip-Seq_ESCs_Mouse1.03216137
120KDM2B_26808549_Chip-Seq_SUP-B15_Human1.02885622
121ZFP57_27257070_Chip-Seq_ESCs_Mouse1.02611630
122TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.02497720
123GF1_26923725_Chip-Seq_HPCs_Mouse1.02362155
124* RXRA_24833708_ChIP-Seq_LIVER_Mouse1.01782819
125ESET_19884257_ChIP-Seq_ESCs_Mouse1.01333371
126RUNX1_26923725_Chip-Seq_HPCs_Mouse0.99471924
127MYC_27129775_Chip-Seq_CORNEA_Mouse0.98926983
128FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.98656873
129NANOG_18555785_Chip-Seq_ESCs_Mouse0.98393888
130GATA1_19941827_ChIP-Seq_MEL86_Mouse0.98344830
131P53_22387025_ChIP-Seq_ESCs_Mouse0.97236258
132MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.96440287
133BCL6_27268052_Chip-Seq_Bcells_Human0.95499970
134EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.95425681
135GATA3_21867929_ChIP-Seq_TH1_Mouse0.95123266
136SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94883145
137TBX20_22328084_ChIP-Seq_HEART_Mouse0.94723551
138TBX20_22080862_ChIP-Seq_HEART_Mouse0.94723551
139TAF15_26573619_Chip-Seq_HEK293_Human0.94686077
140SMC4_20622854_ChIP-Seq_HELA_Human0.94123611
141TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93805793
142MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.93712807
143SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.93495578
144EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.93478370
145ELF1_20517297_ChIP-Seq_JURKAT_Human0.93202228
146* CTCF_21964334_ChIP-Seq_BJAB-B_Human0.92877795
147P300_18555785_Chip-Seq_ESCs_Mouse0.92778727
148PHF8_20622854_ChIP-Seq_HELA_Human0.92249520
149HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.92055149
150RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.92014321
151RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.91999906
152NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.91679015
153PKCTHETA_26484144_Chip-Seq_BREAST_Human0.91573450
154MAF_26560356_Chip-Seq_TH2_Human0.91299694
155E2F1_17053090_ChIP-ChIP_MCF-7_Human0.90840162
156ATF3_27146783_Chip-Seq_COLON_Human0.90249611
157ERG_20517297_ChIP-Seq_VCAP_Human0.89318311
158ESRRB_18555785_Chip-Seq_ESCs_Mouse0.89190581
159SOX2_21211035_ChIP-Seq_LN229_Human0.88704255
160SMAD4_21741376_ChIP-Seq_EPCs_Human0.88672785
161TCF4_23295773_ChIP-Seq_U87_Human0.88399012
162KLF4_18555785_Chip-Seq_ESCs_Mouse0.88295966
163STAT3_18555785_Chip-Seq_ESCs_Mouse0.88060307
164RARA_24833708_ChIP-Seq_LIVER_Mouse0.88044116
165RUNX1_27457419_Chip-Seq_LIVER_Mouse0.87571667
166ESR1_15608294_ChIP-ChIP_MCF-7_Human0.87480213
167NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.87204789
168POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.87183318
169TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.87024624
170NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.86646409
171FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.86232053
172UTX_26944678_Chip-Seq_JUKART_Human0.86173826
173SALL4_18804426_ChIP-ChIP_XEN_Mouse0.85927151
174ERG_21242973_ChIP-ChIP_JURKAT_Human0.85809528
175EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.85628110
176KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.85475681
177PU1_27457419_Chip-Seq_LIVER_Mouse0.85449417
178CIITA_25753668_ChIP-Seq_RAJI_Human0.85052518
179SMAD4_21799915_ChIP-Seq_A2780_Human0.84342317
180BCOR_27268052_Chip-Seq_Bcells_Human0.84070419
181* HNF4A_19822575_ChIP-Seq_HepG2_Human0.83763100
182CMYC_18555785_Chip-Seq_ESCs_Mouse0.83752066
183SUZ12_18555785_Chip-Seq_ESCs_Mouse0.83485150
184KDM2B_26808549_Chip-Seq_DND41_Human0.83476337
185PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.83047443
186P53_22127205_ChIP-Seq_FIBROBLAST_Human0.82713706
187KLF4_18555785_ChIP-Seq_MESCs_Mouse0.80198561
188TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.80082122
189BRD4_27068464_Chip-Seq_AML-cells_Mouse0.80039626
190CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.79150312

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication7.96230013
2* MP0003698_abnormal_male_reproductive4.65533338
3MP0001929_abnormal_gametogenesis4.21420530
4MP0002139_abnormal_hepatobiliary_system4.19331054
5MP0008877_abnormal_DNA_methylation3.55912653
6MP0005360_urolithiasis3.38540927
7MP0005085_abnormal_gallbladder_physiolo3.24094336
8MP0005365_abnormal_bile_salt3.23702701
9MP0003183_abnormal_peptide_metabolism3.12446565
10MP0002009_preneoplasia3.11243201
11MP0003693_abnormal_embryo_hatching2.87464145
12MP0005171_absent_coat_pigmentation2.86429560
13MP0005409_darkened_coat_color2.77275876
14MP0003646_muscle_fatigue2.74954769
15MP0002653_abnormal_ependyma_morphology2.66344722
16MP0002210_abnormal_sex_determination2.64089232
17MP0010094_abnormal_chromosome_stability2.57190296
18MP0002161_abnormal_fertility/fecundity2.56222367
19MP0008875_abnormal_xenobiotic_pharmacok2.53831607
20MP0005670_abnormal_white_adipose2.42153472
21MP0003705_abnormal_hypodermis_morpholog2.29039776
22MP0002837_dystrophic_cardiac_calcinosis2.28851949
23MP0001145_abnormal_male_reproductive2.24287773
24MP0003111_abnormal_nucleus_morphology2.21015499
25MP0002396_abnormal_hematopoietic_system2.20908841
26MP0003077_abnormal_cell_cycle2.19747500
27MP0003385_abnormal_body_wall2.04852598
28MP0005410_abnormal_fertilization12.4221805
29MP0000653_abnormal_sex_gland1.96496461
30MP0003252_abnormal_bile_duct1.95258799
31MP0003656_abnormal_erythrocyte_physiolo1.92068420
32MP0003950_abnormal_plasma_membrane1.90393917
33MP0008007_abnormal_cellular_replicative1.87144748
34MP0005174_abnormal_tail_pigmentation1.84540239
35MP0003878_abnormal_ear_physiology1.79081236
36MP0005377_hearing/vestibular/ear_phenot1.79081236
37MP0005623_abnormal_meninges_morphology1.76922512
38MP0010329_abnormal_lipoprotein_level1.74784589
39MP0003806_abnormal_nucleotide_metabolis1.63840987
40MP0001730_embryonic_growth_arrest1.53346213
41MP0005076_abnormal_cell_differentiation1.50597673
42MP0000383_abnormal_hair_follicle1.49418200
43MP0004130_abnormal_muscle_cell1.47175474
44MP0010352_gastrointestinal_tract_polyps1.47031428
45MP0004036_abnormal_muscle_relaxation1.46032282
46MP0005647_abnormal_sex_gland1.42684302
47MP0000015_abnormal_ear_pigmentation1.39822268
48MP0000747_muscle_weakness1.37074662
49MP0002160_abnormal_reproductive_system1.36117218
50MP0000751_myopathy1.34040758
51MP0004084_abnormal_cardiac_muscle1.33584935
52MP0010678_abnormal_skin_adnexa1.29615886
53MP0005083_abnormal_biliary_tract1.29362962
54MP0004215_abnormal_myocardial_fiber1.25322431
55MP0004233_abnormal_muscle_weight1.24830091
56MP0000350_abnormal_cell_proliferation1.24404046
57MP0004147_increased_porphyrin_level1.21601262
58MP0005332_abnormal_amino_acid1.20476653
59MP0001697_abnormal_embryo_size1.19476092
60MP0002118_abnormal_lipid_homeostasis1.19089967
61MP0008438_abnormal_cutaneous_collagen1.18368849
62MP0006036_abnormal_mitochondrial_physio1.18349895
63MP0000428_abnormal_craniofacial_morphol1.17645054
64MP0002269_muscular_atrophy1.17134231
65MP0003011_delayed_dark_adaptation1.15869978
66MP0000733_abnormal_muscle_development1.15016573
67MP0009046_muscle_twitch1.14649146
68MP0004957_abnormal_blastocyst_morpholog1.12747952
69MP0001188_hyperpigmentation1.11154740
70MP0003984_embryonic_growth_retardation1.10181003
71MP0002086_abnormal_extraembryonic_tissu1.09106917
72MP0006035_abnormal_mitochondrial_morpho1.08507679
73MP0000569_abnormal_digit_pigmentation1.08261466
74MP0000749_muscle_degeneration1.05340526
75MP0000750_abnormal_muscle_regeneration1.01853594
76MP0001765_abnormal_ion_homeostasis1.00834211
77MP0003195_calcinosis1.00529180
78MP0000609_abnormal_liver_physiology0.99287818
79MP0005319_abnormal_enzyme/_coenzyme0.98107467
80MP0006138_congestive_heart_failure0.97664478
81MP0002088_abnormal_embryonic_growth/wei0.97462882
82MP0005275_abnormal_skin_tensile0.96549238
83MP0004019_abnormal_vitamin_homeostasis0.96017746
84MP0001672_abnormal_embryogenesis/_devel0.95606129
85MP0005380_embryogenesis_phenotype0.95606129
86MP0005666_abnormal_adipose_tissue0.93925863
87MP0009697_abnormal_copulation0.92343169
88MP0002282_abnormal_trachea_morphology0.91176734
89MP0004808_abnormal_hematopoietic_stem0.90810722
90MP0009053_abnormal_anal_canal0.90139541
91MP0002080_prenatal_lethality0.89681019
92MP0005330_cardiomyopathy0.88148032
93MP0001666_abnormal_nutrient_absorption0.88087708
94MP0003221_abnormal_cardiomyocyte_apopto0.87566024
95MP0010307_abnormal_tumor_latency0.87243203
96MP0002084_abnormal_developmental_patter0.86779193
97MP0004264_abnormal_extraembryonic_tissu0.86165687
98MP0000759_abnormal_skeletal_muscle0.85876710
99MP0009780_abnormal_chondrocyte_physiolo0.84010209
100MP0005636_abnormal_mineral_homeostasis0.83970593
101MP0004272_abnormal_basement_membrane0.82725655
102MP0000534_abnormal_ureter_morphology0.82279198
103MP0005584_abnormal_enzyme/coenzyme_acti0.80279615
104MP0010234_abnormal_vibrissa_follicle0.78782386
105MP0008058_abnormal_DNA_repair0.78358535
106MP0001984_abnormal_olfaction0.77863092
107MP0000313_abnormal_cell_death0.77629406
108MP0002971_abnormal_brown_adipose0.75386316
109MP0004197_abnormal_fetal_growth/weight/0.75214546
110MP0002085_abnormal_embryonic_tissue0.73979609
111MP0004087_abnormal_muscle_fiber0.72823078
112MP0002114_abnormal_axial_skeleton0.72312668
113MP0001764_abnormal_homeostasis0.71062255
114MP0004085_abnormal_heartbeat0.70754990
115MP0002019_abnormal_tumor_incidence0.68746839
116MP0002089_abnormal_postnatal_growth/wei0.67972500
117MP0002060_abnormal_skin_morphology0.67894772
118MP0005220_abnormal_exocrine_pancreas0.67403674
119MP0002249_abnormal_larynx_morphology0.67219930
120MP0010630_abnormal_cardiac_muscle0.66963975
121MP0003937_abnormal_limbs/digits/tail_de0.64945635
122MP0005535_abnormal_body_temperature0.63715194
123MP0009840_abnormal_foam_cell0.63189592
124MP0005385_cardiovascular_system_phenoty0.62466007
125MP0001544_abnormal_cardiovascular_syste0.62466007
126MP0009672_abnormal_birth_weight0.62360780
127MP0003868_abnormal_feces_composition0.62110075
128MP0005389_reproductive_system_phenotype0.61388013
129MP0005266_abnormal_metabolism0.61017126
130MP0005620_abnormal_muscle_contractility0.60909363
131MP0004185_abnormal_adipocyte_glucose0.60706919
132MP0003935_abnormal_craniofacial_develop0.60179759
133MP0002925_abnormal_cardiovascular_devel0.59183891
134MP0008775_abnormal_heart_ventricle0.58334924
135MP0003329_amyloid_beta_deposits0.55838924
136MP0010368_abnormal_lymphatic_system0.55151782
137MP0005451_abnormal_body_composition0.53012571
138MP0002972_abnormal_cardiac_muscle0.52806966
139MP0000358_abnormal_cell_content/0.50998853
140MP0002106_abnormal_muscle_physiology0.50891899
141MP0002928_abnormal_bile_duct0.50571646
142MP0003137_abnormal_impulse_conducting0.47489456
143MP0002078_abnormal_glucose_homeostasis0.46320722
144MP0009115_abnormal_fat_cell0.46184931
145MP0004043_abnormal_pH_regulation0.46067216
146MP0003633_abnormal_nervous_system0.45381213
147MP0002127_abnormal_cardiovascular_syste0.45225440
148MP0008995_early_reproductive_senescence0.44135156
149MP0005334_abnormal_fat_pad0.43778562
150MP0003115_abnormal_respiratory_system0.43574913
151MP0004270_analgesia0.41409461
152MP0000604_amyloidosis0.41115523
153MP0000598_abnormal_liver_morphology0.41061776
154MP0003699_abnormal_female_reproductive0.40575154
155MP0000566_synostosis0.39664336
156MP0009642_abnormal_blood_homeostasis0.38028841
157MP0001324_abnormal_eye_pigmentation0.37595332
158MP0002234_abnormal_pharynx_morphology0.37025987
159MP0003953_abnormal_hormone_level0.36900354
160MP0005448_abnormal_energy_balance0.36851003
161MP0005369_muscle_phenotype0.36576350
162MP0001661_extended_life_span0.36441784
163MP0003191_abnormal_cellular_cholesterol0.35351950
164MP0005375_adipose_tissue_phenotype0.33425865
165MP0003631_nervous_system_phenotype0.33337519
166MP0002108_abnormal_muscle_morphology0.33298810
167MP0002138_abnormal_hepatobiliary_system0.32707467

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory motile cilium physiology (HP:0012261)8.34844384
2Abnormal respiratory motile cilium morphology (HP:0005938)7.96256978
3Abnormal respiratory epithelium morphology (HP:0012253)7.96256978
4Rhinitis (HP:0012384)7.10184408
5Abnormal ciliary motility (HP:0012262)6.62179882
6Chronic bronchitis (HP:0004469)6.50060594
7Nasal polyposis (HP:0100582)5.87035305
8Infertility (HP:0000789)5.62555695
9Abnormality of the nasal mucosa (HP:0000433)4.88756941
10Long clavicles (HP:0000890)4.49872241
11Vertebral arch anomaly (HP:0008438)4.39166853
12Abnormality of the lumbar spine (HP:0100712)3.91949350
13Bronchiectasis (HP:0002110)3.91462835
14Ulnar bowing (HP:0003031)3.89149542
15Thoracic kyphosis (HP:0002942)3.86669202
16Bronchitis (HP:0012387)3.85267298
17Nephronophthisis (HP:0000090)3.72830226
18Facial hemangioma (HP:0000329)3.60161688
19Abnormality of the thoracic spine (HP:0100711)3.54583582
20Choroideremia (HP:0001139)3.54071479
21Abnormality of the fingertips (HP:0001211)3.46340475
22Abnormality of the lower motor neuron (HP:0002366)3.43575319
23Volvulus (HP:0002580)3.27430416
24Capillary hemangiomas (HP:0005306)3.17232973
25Dysmetric saccades (HP:0000641)3.16299568
26Chromsome breakage (HP:0040012)3.05198893
27Hypoplastic ischia (HP:0003175)3.04245669
28Thickened calvaria (HP:0002684)2.95935188
29Recurrent otitis media (HP:0000403)2.87599618
30Chromosomal breakage induced by crosslinking agents (HP:0003221)2.83333975
31Male infertility (HP:0003251)2.83284048
32Abnormal gallbladder physiology (HP:0012438)2.82961415
33Cholecystitis (HP:0001082)2.82961415
34Abnormality of the renal medulla (HP:0100957)2.78441066
35Acute myeloid leukemia (HP:0004808)2.78388082
36Truncal obesity (HP:0001956)2.76776715
37Recurrent sinusitis (HP:0011108)2.76004865
38Broad ribs (HP:0000885)2.74383303
39Tubulointerstitial nephritis (HP:0001970)2.73877042
40Abnormality of the ischium (HP:0003174)2.73513627
41Abnormal spermatogenesis (HP:0008669)2.73203350
42Asymmetry of the thorax (HP:0001555)2.66583259
43Gonadotropin excess (HP:0000837)2.56857047
44Increased nuchal translucency (HP:0010880)2.54766286
45Birth length less than 3rd percentile (HP:0003561)2.51213278
46Papillary thyroid carcinoma (HP:0002895)2.48830397
47Poikilocytosis (HP:0004447)2.42169717
48Intrahepatic cholestasis (HP:0001406)2.40763037
49Limited elbow extension (HP:0001377)2.39869978
50Hyporeflexia of lower limbs (HP:0002600)2.37873980
51Deep venous thrombosis (HP:0002625)2.37819336
52Reticulocytosis (HP:0001923)2.36331250
53Myoglobinuria (HP:0002913)2.32095867
54Vertebral clefting (HP:0008428)2.30082537
55Prominent nose (HP:0000448)2.26345891
56Azoospermia (HP:0000027)2.26143306
57Bony spicule pigmentary retinopathy (HP:0007737)2.25759373
58Abnormality of the sella turcica (HP:0002679)2.23575352
59Tubulointerstitial abnormality (HP:0001969)2.22795609
60Delayed closure of the anterior fontanelle (HP:0001476)2.22543164
61Medulloblastoma (HP:0002885)2.22250467
62Abnormality of the common coagulation pathway (HP:0010990)2.19283254
63Impaired proprioception (HP:0010831)2.18611260
64Intestinal malrotation (HP:0002566)2.17195658
65Complement deficiency (HP:0004431)2.16771847
66Flat acetabular roof (HP:0003180)2.16604677
67Obsessive-compulsive behavior (HP:0000722)2.14220842
68Cerebral aneurysm (HP:0004944)2.13267379
69Medial flaring of the eyebrow (HP:0010747)2.13134731
70Impulsivity (HP:0100710)2.12743183
71Lip pit (HP:0100267)2.11066886
72Diastasis recti (HP:0001540)2.09669273
73Protuberant abdomen (HP:0001538)2.09543622
74Recurrent bronchitis (HP:0002837)2.08738434
75Spastic tetraparesis (HP:0001285)2.08559714
76Exercise-induced myalgia (HP:0003738)2.08257969
77Hypobetalipoproteinemia (HP:0003563)2.07473851
78Abnormality of the intrinsic pathway (HP:0010989)2.05511117
79Tubular atrophy (HP:0000092)2.05391589
80Rectal prolapse (HP:0002035)2.04116111
81Abnormality of the renal cortex (HP:0011035)2.00786905
82Upper motor neuron abnormality (HP:0002127)2.00094245
83Respiratory insufficiency due to defective ciliary clearance (HP:0200073)12.1992068
84Dynein arm defect of respiratory motile cilia (HP:0012255)11.3935315
85Absent/shortened dynein arms (HP:0200106)11.3935315
86Breast hypoplasia (HP:0003187)1.95639864
87Asymmetric septal hypertrophy (HP:0001670)1.94436763
88Ketosis (HP:0001946)1.94194599
89Cystic hygroma (HP:0000476)1.94009670
90Sandal gap (HP:0001852)1.93500007
91Fibular hypoplasia (HP:0003038)1.92556420
92Proximal placement of thumb (HP:0009623)1.92124781
93Hypoplastic iliac wings (HP:0002866)1.90958888
94Poikiloderma (HP:0001029)1.89941498
95Hypoalphalipoproteinemia (HP:0003233)1.89208999
96Attenuation of retinal blood vessels (HP:0007843)1.88324102
97Bundle branch block (HP:0011710)1.87930603
98Amyotrophic lateral sclerosis (HP:0007354)1.87895165
99Exostoses (HP:0100777)1.87123749
100Abnormality of the wing of the ilium (HP:0011867)1.87061864
101Hyperkalemia (HP:0002153)1.86076315
102Hypolipoproteinemia (HP:0010981)1.85924088
103Joint hemorrhage (HP:0005261)1.85923205
104Bowed forearm bones (HP:0003956)1.84987939
105Bowing of the arm (HP:0006488)1.84987939
106Xanthomatosis (HP:0000991)1.84980065
107Hypercholesterolemia (HP:0003124)1.84591635
108Intestinal fistula (HP:0100819)1.83537770
109Termporal pattern (HP:0011008)1.81738116
110Insidious onset (HP:0003587)1.81738116
111Aplasia/Hypoplasia of the earlobes (HP:0009906)1.81136606
112Coarse hair (HP:0002208)1.80981847
113Prolonged partial thromboplastin time (HP:0003645)1.80484700
114Rhabdomyolysis (HP:0003201)1.80395070
115Anal stenosis (HP:0002025)1.77629571
116Abnormality of the epiphyses of the hand (HP:0005924)1.77193853
117Thin ribs (HP:0000883)1.76585474
118Congenital hepatic fibrosis (HP:0002612)1.76162809
119Sudden death (HP:0001699)1.75995402
120Abnormality of aromatic amino acid family metabolism (HP:0004338)1.75587445
121Long eyelashes (HP:0000527)1.75287507
122Epidermoid cyst (HP:0200040)1.74902166
123Deviation of the thumb (HP:0009603)1.74516203
124Stage 5 chronic kidney disease (HP:0003774)1.73220767
125Abnormality of midbrain morphology (HP:0002418)1.72577422
126Molar tooth sign on MRI (HP:0002419)1.72577422
127Bile duct proliferation (HP:0001408)1.72167576
128Abnormal biliary tract physiology (HP:0012439)1.72167576
129Abnormality of the columella (HP:0009929)1.70823480
130Spinal cord lesions (HP:0100561)1.70521084
131Syringomyelia (HP:0003396)1.70521084
132Rhabdomyosarcoma (HP:0002859)1.70513525
133Tubulointerstitial fibrosis (HP:0005576)1.69281842
134Partial agenesis of the corpus callosum (HP:0001338)1.69136001
135Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.68791328
136Short 1st metacarpal (HP:0010034)1.68791328
137Cafe-au-lait spot (HP:0000957)1.68151443
138Abnormality of monocarboxylic acid metabolism (HP:0010996)1.67942743
139Underdeveloped nasal alae (HP:0000430)1.67244388
140Dislocated radial head (HP:0003083)1.65524890
141Abnormality of the hepatic vasculature (HP:0006707)1.64998808
142Patellar aplasia (HP:0006443)1.64043715
143Neoplasm of striated muscle (HP:0009728)1.62855098
144Natal tooth (HP:0000695)1.62787936
145Hemorrhage of the eye (HP:0011885)1.61820542
146Spontaneous abortion (HP:0005268)1.61353566
147Vascular calcification (HP:0004934)1.60819833
148Hyperlipoproteinemia (HP:0010980)1.60781982
149Aneurysm (HP:0002617)1.60612472
150Renovascular hypertension (HP:0100817)1.60400454
151Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.60100216
152Postaxial foot polydactyly (HP:0001830)1.59850290
153Short 5th finger (HP:0009237)1.59100730
154Nephroblastoma (Wilms tumor) (HP:0002667)1.58934839
155Aplasia/Hypoplasia of the scapulae (HP:0006713)1.58823828
156Hypoplastic scapulae (HP:0000882)1.58823828
157Exercise-induced muscle cramps (HP:0003710)1.58767190
158Mask-like facies (HP:0000298)1.58333992
159Rib fusion (HP:0000902)1.57941761
160Abnormality involving the epiphyses of the upper limbs (HP:0003839)1.57683751
161Toxemia of pregnancy (HP:0100603)1.57330076
162Hyperammonemia (HP:0001987)1.56636383
163Microglossia (HP:0000171)1.56541390
164Sensory axonal neuropathy (HP:0003390)1.55172315
165Hyperinsulinemic hypoglycemia (HP:0000825)1.52719585
166Conjunctival telangiectasia (HP:0000524)1.50453633
167Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.49748399
168Hypoplasia of the capital femoral epiphysis (HP:0003090)1.49288939
169Abnormality of complement system (HP:0005339)1.48803293
170Cardiovascular calcification (HP:0011915)1.43898724
171Abnormal drinking behavior (HP:0030082)1.43454101
172Polydipsia (HP:0001959)1.43454101
173Calf muscle hypertrophy (HP:0008981)1.40180976
174Cholelithiasis (HP:0001081)1.39389712
175J-shaped sella turcica (HP:0002680)1.37884970
176Heart block (HP:0012722)1.36950477
177Chronic sinusitis (HP:0011109)1.36869293
178Oculomotor apraxia (HP:0000657)1.35834886
179EMG: neuropathic changes (HP:0003445)1.34920783
180Short ribs (HP:0000773)1.34809181
181Acanthocytosis (HP:0001927)1.34734772
182Abnormality of fatty-acid metabolism (HP:0004359)1.32475181
183Dyschromatopsia (HP:0007641)1.31336931
184Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.31308737
185Difficulty climbing stairs (HP:0003551)1.30549659
186Renal dysplasia (HP:0000110)1.30443774
187Abnormal gallbladder morphology (HP:0012437)1.29412859
188Abnormality of renal excretion (HP:0011036)1.29130308

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K99.26459672
2PDK48.82304740
3PDK38.82304740
4PDK25.57171470
5TESK14.24892087
6PRKD33.73569132
7ICK3.39175855
8PIK3CG3.25700964
9CDK123.09754656
10PTK2B2.55040816
11MARK12.45810826
12WNK42.38813669
13PLK42.27009302
14TAF12.10681559
15DDR22.04796570
16STK391.99856124
17AKT31.88580394
18NEK91.73524740
19STK381.70730900
20SMG11.64281482
21BCKDK1.61953023
22PNCK1.59194512
23KSR21.55987266
24BLK1.52026687
25FLT31.43728172
26EIF2AK11.25632589
27LMTK21.19523022
28PDGFRA1.18006586
29MAP3K131.17299820
30MOS1.17079118
31PINK11.16452455
32NEK21.16401706
33RAF11.15605217
34CCNB11.15165221
35SCYL21.10358970
36PDK11.03337420
37MELK1.03282823
38PASK1.01323689
39PBK1.01239935
40BRD41.00701660
41CDK71.00528655
42ARAF0.97730768
43MAP3K100.95064323
44WNK10.93785620
45ACVR1B0.92549934
46MAPK150.88675994
47DYRK1B0.84711674
48CDK40.84687359
49STK30.82831373
50NTRK30.80216186
51MAP2K10.80198277
52MATK0.77169942
53MAP3K60.77040184
54BRAF0.76549632
55FGFR30.75941425
56AURKA0.75285580
57PRPF4B0.74695033
58CAMK1D0.72344314
59CAMKK10.69714813
60TYRO30.68621404
61TTN0.67232341
62STK38L0.65253712
63MAP3K20.64529715
64MAPK110.64108517
65CDK60.61060914
66PDPK10.59497534
67RET0.59101232
68CDK20.58654955
69OBSCN0.57498729
70CAMK1G0.57209670
71CDK10.54764100
72BRSK20.54706687
73BMX0.51352539
74INSRR0.50853962
75MAP2K60.50426423
76PRKAA10.49969144
77PHKG10.49300212
78PHKG20.49300212
79ERN10.49125353
80TRIB30.48904531
81CDK90.47893864
82MYLK0.46710043
83MUSK0.46411486
84GSK3B0.45736465
85TRPM70.45559444
86IRAK10.44840571
87GRK70.44336037
88PAK10.42351258
89SGK20.40900626
90RPS6KB20.37894902
91GRK60.36789259
92AURKB0.36462386
93MET0.34868858
94MST1R0.34212267
95CAMK40.33805898
96MAPK80.33400366
97EPHA40.33232079
98MAP2K40.31832496
99MAP3K40.31462178
100MTOR0.31350251
101PKN20.31307192
102SGK30.30632862
103PAK20.30277407
104FRK0.29899973
105BRSK10.29764459
106SIK10.29319340
107KSR10.28180406
108MAPK140.28068733
109FGFR40.27738714
110PRKCG0.27616607
111CDC42BPA0.27201715
112EEF2K0.25748657
113TIE10.25271877
114PRKACG0.25034193
115NEK10.24103820
116FGR0.23652921
117PIK3CA0.23379316
118TGFBR20.22952788
119SGK2230.20778343
120SGK4940.20778343
121CAMK2A0.19563534
122TTK0.19549095
123PRKAA20.19005204
124CHEK10.18195717
125MAP3K30.18148514
126RPS6KB10.17841018
127PRKCZ0.17767006
128MAPK120.17241936
129DAPK20.17126455
130PRKCQ0.16601489
131DYRK30.16330074
132MAP2K30.16003832
133BMPR1B0.15883404
134MAPK70.15873122
135MAP3K70.15395804
136LATS10.14352201
137PAK60.13931461
138ERBB40.13788064
139PRKACB0.13617514
140RIPK10.13449454
141STK110.13334490
142PTK60.13190027
143CDC70.12008047
144PDGFRB0.11740098
145IRAK20.11628996
146YES10.11322530
147ATM0.10819209
148CHEK20.10752787
149NEK60.10723943
150PRKACA0.10528913
151PRKG10.10335801
152NTRK20.10214909
153ATR0.10014543
154FGFR20.09699972
155PKN10.08988955
156MARK20.08385493
157RPS6KA10.08090023
158STK40.08010353
159RPS6KA30.07918687
160SIK30.07437364
161CASK0.06634865
162MAPK40.06000118
163MAP2K70.05321909

Predicted pathways (KEGG)

RankGene SetZ-score
1Propanoate metabolism_Homo sapiens_hsa006403.72801787
2Pyruvate metabolism_Homo sapiens_hsa006203.48137186
3Fatty acid degradation_Homo sapiens_hsa000713.05027775
4Vitamin B6 metabolism_Homo sapiens_hsa007502.89325205
5Primary bile acid biosynthesis_Homo sapiens_hsa001202.85445131
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.81975088
7Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.78961387
8Cell cycle_Homo sapiens_hsa041102.64611024
9Fatty acid biosynthesis_Homo sapiens_hsa000612.46096333
10Fatty acid metabolism_Homo sapiens_hsa012122.44249731
11PPAR signaling pathway_Homo sapiens_hsa033202.37818270
12Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.28700001
13Nitrogen metabolism_Homo sapiens_hsa009102.20779978
14Non-homologous end-joining_Homo sapiens_hsa034502.17299016
15One carbon pool by folate_Homo sapiens_hsa006702.12156386
16Selenocompound metabolism_Homo sapiens_hsa004502.08431574
17Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.07371317
18Carbon metabolism_Homo sapiens_hsa012002.07255108
19Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.06549267
20Chronic myeloid leukemia_Homo sapiens_hsa052202.06538977
21Glucagon signaling pathway_Homo sapiens_hsa049221.83037775
22Arginine biosynthesis_Homo sapiens_hsa002201.75237396
23Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.74860630
24Tryptophan metabolism_Homo sapiens_hsa003801.73583916
25DNA replication_Homo sapiens_hsa030301.71261987
26Cysteine and methionine metabolism_Homo sapiens_hsa002701.68910357
27Pentose phosphate pathway_Homo sapiens_hsa000301.66018433
28Acute myeloid leukemia_Homo sapiens_hsa052211.60450915
29Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.60401302
30Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.60013877
31Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.57206585
32Complement and coagulation cascades_Homo sapiens_hsa046101.56496534
33Glycerolipid metabolism_Homo sapiens_hsa005611.55620676
34Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.51280941
35alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.49749246
36Biosynthesis of amino acids_Homo sapiens_hsa012301.48718620
37Butanoate metabolism_Homo sapiens_hsa006501.46610626
38Fat digestion and absorption_Homo sapiens_hsa049751.44612775
39Peroxisome_Homo sapiens_hsa041461.41862705
40Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.41191366
41Dorso-ventral axis formation_Homo sapiens_hsa043201.36289708
42Non-small cell lung cancer_Homo sapiens_hsa052231.35041889
43RNA transport_Homo sapiens_hsa030131.33538531
44Bile secretion_Homo sapiens_hsa049761.33513704
45Pancreatic cancer_Homo sapiens_hsa052121.33291736
46mTOR signaling pathway_Homo sapiens_hsa041501.32993567
47Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.31322368
48Linoleic acid metabolism_Homo sapiens_hsa005911.30569362
49Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.30241177
50Chemical carcinogenesis_Homo sapiens_hsa052041.28629465
51Bladder cancer_Homo sapiens_hsa052191.27805133
52ABC transporters_Homo sapiens_hsa020101.24725843
53Cardiac muscle contraction_Homo sapiens_hsa042601.22520647
54Sphingolipid metabolism_Homo sapiens_hsa006001.21263379
55MicroRNAs in cancer_Homo sapiens_hsa052061.21184512
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.19745297
572-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.19319195
58Thyroid hormone signaling pathway_Homo sapiens_hsa049191.18081336
59Small cell lung cancer_Homo sapiens_hsa052221.17991223
60Pentose and glucuronate interconversions_Homo sapiens_hsa000401.15191234
61Thyroid cancer_Homo sapiens_hsa052161.13689417
62Endometrial cancer_Homo sapiens_hsa052131.13058092
63Steroid hormone biosynthesis_Homo sapiens_hsa001401.10109275
64Huntingtons disease_Homo sapiens_hsa050161.10066647
65Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.09610801
66Prostate cancer_Homo sapiens_hsa052151.09447664
67ErbB signaling pathway_Homo sapiens_hsa040121.04200707
68Platelet activation_Homo sapiens_hsa046111.02835139
69Fatty acid elongation_Homo sapiens_hsa000621.02382795
70Phenylalanine metabolism_Homo sapiens_hsa003601.02347159
71Retinol metabolism_Homo sapiens_hsa008301.02137462
72Longevity regulating pathway - mammal_Homo sapiens_hsa042111.01428499
73Prolactin signaling pathway_Homo sapiens_hsa049170.99131378
74Homologous recombination_Homo sapiens_hsa034400.97969610
75Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.97375152
76Fructose and mannose metabolism_Homo sapiens_hsa000510.97240036
77Adherens junction_Homo sapiens_hsa045200.96783643
78beta-Alanine metabolism_Homo sapiens_hsa004100.95608744
79Glioma_Homo sapiens_hsa052140.95520492
80Focal adhesion_Homo sapiens_hsa045100.95121553
81Colorectal cancer_Homo sapiens_hsa052100.93829489
82Tyrosine metabolism_Homo sapiens_hsa003500.91701485
83ECM-receptor interaction_Homo sapiens_hsa045120.90803334
84Other glycan degradation_Homo sapiens_hsa005110.90258510
85mRNA surveillance pathway_Homo sapiens_hsa030150.90073586
86Carbohydrate digestion and absorption_Homo sapiens_hsa049730.89582997
87Glycerophospholipid metabolism_Homo sapiens_hsa005640.89464924
88Dilated cardiomyopathy_Homo sapiens_hsa054140.87954348
89Inositol phosphate metabolism_Homo sapiens_hsa005620.86929129
90Transcriptional misregulation in cancer_Homo sapiens_hsa052020.86684098
91Viral carcinogenesis_Homo sapiens_hsa052030.86154750
92Estrogen signaling pathway_Homo sapiens_hsa049150.85143805
93FoxO signaling pathway_Homo sapiens_hsa040680.85001783
94Renal cell carcinoma_Homo sapiens_hsa052110.83206493
95VEGF signaling pathway_Homo sapiens_hsa043700.82448477
96Sulfur metabolism_Homo sapiens_hsa009200.80680184
97AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.80617361
98Notch signaling pathway_Homo sapiens_hsa043300.79344604
99Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.79175969
100Histidine metabolism_Homo sapiens_hsa003400.78560160
101TGF-beta signaling pathway_Homo sapiens_hsa043500.78337317
102Neurotrophin signaling pathway_Homo sapiens_hsa047220.76308262
103Starch and sucrose metabolism_Homo sapiens_hsa005000.74870065
104Insulin signaling pathway_Homo sapiens_hsa049100.73902653
105Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.73616956
106Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.73133114
107Caffeine metabolism_Homo sapiens_hsa002320.71900959
108Renin secretion_Homo sapiens_hsa049240.69495489
109Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.67733733
110Adipocytokine signaling pathway_Homo sapiens_hsa049200.67687522
111Taste transduction_Homo sapiens_hsa047420.67140062
112Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.65990649
113B cell receptor signaling pathway_Homo sapiens_hsa046620.64028402
114Amphetamine addiction_Homo sapiens_hsa050310.62463278
115Lysine degradation_Homo sapiens_hsa003100.61893458
116Phosphatidylinositol signaling system_Homo sapiens_hsa040700.60278415
117Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.59873332
118Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.59072227
119Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.57777807
120Phospholipase D signaling pathway_Homo sapiens_hsa040720.57529649
121Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.57031925
122GnRH signaling pathway_Homo sapiens_hsa049120.56668874
123Choline metabolism in cancer_Homo sapiens_hsa052310.56423788
124Prion diseases_Homo sapiens_hsa050200.56097470
125Glutathione metabolism_Homo sapiens_hsa004800.55602075
126Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.55524871
127Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.55157074
128Gap junction_Homo sapiens_hsa045400.54462214
129Metabolic pathways_Homo sapiens_hsa011000.53682409
130HTLV-I infection_Homo sapiens_hsa051660.53650497
131Staphylococcus aureus infection_Homo sapiens_hsa051500.53300555
132Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.51636950
133Thyroid hormone synthesis_Homo sapiens_hsa049180.50811197
134Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.49846071
135Drug metabolism - other enzymes_Homo sapiens_hsa009830.49687233
136Proteoglycans in cancer_Homo sapiens_hsa052050.49670848
137Melanoma_Homo sapiens_hsa052180.49634366
138Protein digestion and absorption_Homo sapiens_hsa049740.47628065
139Olfactory transduction_Homo sapiens_hsa047400.45945202
140Oocyte meiosis_Homo sapiens_hsa041140.43955874
141AMPK signaling pathway_Homo sapiens_hsa041520.42935934
142Insulin resistance_Homo sapiens_hsa049310.39480460
143cGMP-PKG signaling pathway_Homo sapiens_hsa040220.35360803
144Calcium signaling pathway_Homo sapiens_hsa040200.33588438
145Basal transcription factors_Homo sapiens_hsa030220.32904966
146Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.31754321
147Insulin secretion_Homo sapiens_hsa049110.31261404
148Central carbon metabolism in cancer_Homo sapiens_hsa052300.30834756
149Vitamin digestion and absorption_Homo sapiens_hsa049770.30718068
150Alzheimers disease_Homo sapiens_hsa050100.30338750
151Arginine and proline metabolism_Homo sapiens_hsa003300.30281670
152Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.27068490
153Ether lipid metabolism_Homo sapiens_hsa005650.26307157
154Glycosaminoglycan degradation_Homo sapiens_hsa005310.26124824
155Oxidative phosphorylation_Homo sapiens_hsa001900.25356687
156Parkinsons disease_Homo sapiens_hsa050120.24384757
157Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.24306200
158Mineral absorption_Homo sapiens_hsa049780.24304482
159Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.21984403
160Fanconi anemia pathway_Homo sapiens_hsa034600.21215615
161Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.20943960
162Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.20079642
163Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.18794302
164Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.16013729
165Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.15193195
166Long-term potentiation_Homo sapiens_hsa047200.15105682
167Maturity onset diabetes of the young_Homo sapiens_hsa049500.12698437

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