FAM50B

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





Description: This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in many tissues. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epithelial cilium movement (GO:0003351)9.81561879
2motile cilium assembly (GO:0044458)9.71458215
3spermatid development (GO:0007286)9.44493524
4reproduction (GO:0000003)9.36385436
5piRNA metabolic process (GO:0034587)8.88805099
6male meiosis (GO:0007140)8.42889867
7cilium movement (GO:0003341)8.35863424
8epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)8.27261147
9regulation of cilium movement (GO:0003352)8.21839494
10synaptonemal complex organization (GO:0070193)7.86674061
11synaptonemal complex assembly (GO:0007130)7.53406659
12single fertilization (GO:0007338)7.44041228
13sperm capacitation (GO:0048240)6.97291311
14negative regulation of inclusion body assembly (GO:0090084)6.71281864
15fertilization (GO:0009566)6.35947560
16spermatogenesis (GO:0007283)6.27514162
17male gamete generation (GO:0048232)6.25192527
18organic cation transport (GO:0015695)5.86792134
19DNA methylation involved in gamete generation (GO:0043046)5.75773682
20gamete generation (GO:0007276)5.74567318
21microtubule depolymerization (GO:0007019)5.70282552
22male meiosis I (GO:0007141)5.64663554
23regulation of inclusion body assembly (GO:0090083)5.52304870
24ventricular system development (GO:0021591)5.39050296
25cellular process involved in reproduction in multicellular organism (GO:0022412)5.36246797
26germ cell development (GO:0007281)5.32878562
27chromosome organization involved in meiosis (GO:0070192)5.27569678
28calcium ion-dependent exocytosis (GO:0017156)5.11504693
29cell recognition (GO:0008037)5.00104787
30meiotic nuclear division (GO:0007126)4.90580377
31purine nucleotide salvage (GO:0032261)4.87411621
32regulation of microtubule-based movement (GO:0060632)4.84101306
33pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.77849490
34seminiferous tubule development (GO:0072520)4.70068114
35microtubule severing (GO:0051013)4.65636602
36spermatid nucleus differentiation (GO:0007289)4.62762216
37meiosis I (GO:0007127)4.57902029
38multicellular organismal reproductive process (GO:0048609)4.51596110
39left/right pattern formation (GO:0060972)4.37098686
40regulation of skeletal muscle contraction (GO:0014819)4.32429507
41positive regulation of meiosis (GO:0045836)4.29180698
42positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.26424126
43chromosome condensation (GO:0030261)4.03421827
44valine metabolic process (GO:0006573)4.01572741
45protein localization to cilium (GO:0061512)4.00305947
46pyrimidine nucleotide catabolic process (GO:0006244)3.98254234
47glycerol ether metabolic process (GO:0006662)3.97662107
48meiotic cell cycle (GO:0051321)3.97615438
49positive regulation of meiotic cell cycle (GO:0051446)3.95868942
50chaperone-mediated protein complex assembly (GO:0051131)3.88116732
51DNA packaging (GO:0006323)3.87948079
52nucleotide salvage (GO:0043173)3.84967214
53regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022353.76835633
54protein polyglutamylation (GO:0018095)3.72210505
55monoubiquitinated protein deubiquitination (GO:0035520)3.67451334
56ether metabolic process (GO:0018904)3.67123454
57muscle filament sliding (GO:0030049)3.63799621
58actin-myosin filament sliding (GO:0033275)3.63799621
59multicellular organismal development (GO:0007275)3.63411831
60genitalia morphogenesis (GO:0035112)3.60692411
61mitochondrial calcium ion homeostasis (GO:0051560)3.52409308
62intraciliary transport (GO:0042073)3.41870231
63carnitine transport (GO:0015879)3.39874282
64amino-acid betaine transport (GO:0015838)3.39874282
65sarcoplasmic reticulum calcium ion transport (GO:0070296)3.38385840
66deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.37077063
67regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.34397281
68carnitine transmembrane transport (GO:1902603)3.32009852
69NADH metabolic process (GO:0006734)3.28147129
70axoneme assembly (GO:0035082)3.25726373
71deoxyribonucleotide catabolic process (GO:0009264)3.25666812
72synapsis (GO:0007129)3.23870433
73regulation of spindle checkpoint (GO:0090231)3.22196804
74gene silencing by RNA (GO:0031047)3.20439344
75negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.15811378
76protein refolding (GO:0042026)3.15482906
77negative regulation of organelle assembly (GO:1902116)3.13182693
78meiotic cell cycle process (GO:1903046)3.11464422
79microtubule-based movement (GO:0007018)3.10772603
80pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.10135790
81peroxisome fission (GO:0016559)3.09600011
82short-chain fatty acid metabolic process (GO:0046459)3.09030614
83synaptic vesicle exocytosis (GO:0016079)3.07210673
84single strand break repair (GO:0000012)3.06168613
85cilium organization (GO:0044782)3.04286427
86deoxyribose phosphate catabolic process (GO:0046386)3.03938502
87skeletal muscle contraction (GO:0003009)3.03269521
88tricarboxylic acid cycle (GO:0006099)3.02404251
89regulation of monocyte differentiation (GO:0045655)3.01802701
90nucleoside diphosphate phosphorylation (GO:0006165)3.00038420
91mitochondrial fragmentation involved in apoptotic process (GO:0043653)2.99943033
92protein maturation by protein folding (GO:0022417)2.97234878
93receptor guanylyl cyclase signaling pathway (GO:0007168)2.96785850
94microtubule polymerization or depolymerization (GO:0031109)2.95974616
95sexual reproduction (GO:0019953)2.95740765
96creatine metabolic process (GO:0006600)2.95391334
97lactate metabolic process (GO:0006089)2.95164979
98protein K11-linked deubiquitination (GO:0035871)2.92700654
99alditol metabolic process (GO:0019400)2.91814741
100mitochondrion degradation (GO:0000422)2.90568038
101DNA synthesis involved in DNA repair (GO:0000731)2.89877581
102iron-sulfur cluster assembly (GO:0016226)2.89140967
103metallo-sulfur cluster assembly (GO:0031163)2.89140967
104cilium assembly (GO:0042384)2.89021097
105regulation of sequestering of triglyceride (GO:0010889)2.88879008
106nucleus organization (GO:0006997)2.88246612
107cilium morphogenesis (GO:0060271)2.87192581
108polyol catabolic process (GO:0046174)2.87041935
109centriole assembly (GO:0098534)2.86094746
110phosphatidylglycerol biosynthetic process (GO:0006655)2.85390944
111cellular component assembly involved in morphogenesis (GO:0010927)2.85265872
112regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.84677460
113regulation of centriole replication (GO:0046599)2.83499581
114centriole replication (GO:0007099)2.83481395
115positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.82408595
116glucan biosynthetic process (GO:0009250)2.82095562
117glycogen biosynthetic process (GO:0005978)2.82095562
118glycolytic process (GO:0006096)2.81311911
119regulation of female receptivity (GO:0045924)2.81104225
120mitotic sister chromatid cohesion (GO:0007064)2.81013546
121negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.77480570
122regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.76654047
123sequestering of actin monomers (GO:0042989)2.76353320
124histone H4-K12 acetylation (GO:0043983)2.75482333
125nuclear pore complex assembly (GO:0051292)2.74558911
126regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.73014389
127GTP biosynthetic process (GO:0006183)2.72101387
128base-excision repair, AP site formation (GO:0006285)2.71135798
129negative regulation of necroptotic process (GO:0060546)2.69210659
130peptidyl-glutamic acid modification (GO:0018200)2.67990720
131actin-mediated cell contraction (GO:0070252)2.65749200
132positive regulation of macrophage activation (GO:0043032)2.65688257
133deoxyribose phosphate biosynthetic process (GO:0046385)2.65149803
1342-deoxyribonucleotide biosynthetic process (GO:0009265)2.65149803
135synaptic vesicle maturation (GO:0016188)2.64546786
136membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.64439356
137tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.64154540
138RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.64154540
139branched-chain amino acid catabolic process (GO:0009083)2.64091400
140mitochondrial calcium ion transport (GO:0006851)2.62128838
141positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.60160267
142regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.59350297
143interferon-gamma secretion (GO:0072643)2.57223933
144striated muscle contraction (GO:0006941)2.56376513
145regulation of meiosis I (GO:0060631)2.56217936
146regulation of relaxation of muscle (GO:1901077)2.54721341
147female mating behavior (GO:0060180)2.54636522
148ADP metabolic process (GO:0046031)2.53118258
149oxaloacetate metabolic process (GO:0006107)2.52546615
150negative regulation of calcium ion transmembrane transport (GO:1903170)2.52076664
151negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.52076664
152regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.51968102
153branched-chain amino acid metabolic process (GO:0009081)2.51918072
154glycerol metabolic process (GO:0006071)2.50236098
155succinate metabolic process (GO:0006105)2.48526586
156gene silencing (GO:0016458)2.48446694
157response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.47179790
158regulation of necroptotic process (GO:0060544)2.46678185
159response to misfolded protein (GO:0051788)2.45247404
160carnitine shuttle (GO:0006853)2.44688368
161cardiac muscle contraction (GO:0060048)2.42059908
162regulation of meiotic cell cycle (GO:0051445)2.40695850
163energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.39246149
164ATP hydrolysis coupled proton transport (GO:0015991)2.39246149
165negative regulation of necrotic cell death (GO:0060547)2.38740279
166positive regulation of lamellipodium assembly (GO:0010592)2.37793797
1672-deoxyribonucleotide metabolic process (GO:0009394)2.37428091
168adenosine metabolic process (GO:0046085)2.37139639
169negative regulation of cell killing (GO:0031342)2.36750508
170negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.36750508
171ubiquinone biosynthetic process (GO:0006744)2.34816274
172detection of calcium ion (GO:0005513)2.31579648
173fatty acid beta-oxidation (GO:0006635)2.31216356
174preassembly of GPI anchor in ER membrane (GO:0016254)2.30464043
175cardiolipin metabolic process (GO:0032048)2.30425750
176fusion of sperm to egg plasma membrane (GO:0007342)13.6729748
177sperm motility (GO:0030317)12.8039078
178cilium or flagellum-dependent cell motility (GO:0001539)12.7714170
179cell wall macromolecule catabolic process (GO:0016998)12.1659017
180cell wall macromolecule metabolic process (GO:0044036)12.1659017
181acrosome assembly (GO:0001675)11.6822697
182sperm-egg recognition (GO:0035036)11.5567924
183acrosome reaction (GO:0007340)11.2163370
184multicellular organism reproduction (GO:0032504)11.1942677
185axonemal dynein complex assembly (GO:0070286)10.6496570
186binding of sperm to zona pellucida (GO:0007339)10.4153575
187plasma membrane fusion (GO:0045026)10.3940202
188cell-cell recognition (GO:0009988)10.3440050

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat5.54164256
2EZH2_22144423_ChIP-Seq_EOC_Human4.76187452
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.55656318
4BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.53859798
5THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.16157843
6NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.11770996
7BP1_19119308_ChIP-ChIP_Hs578T_Human3.01299865
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.99197715
9PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.69295215
10GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.50456851
11IRF8_22096565_ChIP-ChIP_GC-B_Human2.47513089
12E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.26186713
13STAT6_21828071_ChIP-Seq_BEAS2B_Human2.24407023
14CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.21703031
15LXR_22292898_ChIP-Seq_THP-1_Human2.17366603
16FLI1_27457419_Chip-Seq_LIVER_Mouse2.08986146
17VDR_22108803_ChIP-Seq_LS180_Human2.08332992
18CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.06745091
19P68_20966046_ChIP-Seq_HELA_Human2.05436003
20GATA1_26923725_Chip-Seq_HPCs_Mouse2.05168622
21SRY_22984422_ChIP-ChIP_TESTIS_Rat2.02929848
22MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse10.5150071
23ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.98289986
24ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.97913722
25BCL6_27268052_Chip-Seq_Bcells_Human1.95477647
26TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.92783454
27* EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.89397303
28CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.88140936
29PCGF2_27294783_Chip-Seq_ESCs_Mouse1.87216188
30TET1_21451524_ChIP-Seq_MESCs_Mouse1.85141881
31SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.83732878
32ELK4_26923725_Chip-Seq_MESODERM_Mouse1.82212610
33RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.78761407
34BCOR_27268052_Chip-Seq_Bcells_Human1.74672023
35KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.74335177
36ZNF263_19887448_ChIP-Seq_K562_Human1.74291311
37TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.72152499
38GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.71113597
39SMC4_20622854_ChIP-Seq_HELA_Human1.65287471
40ELF1_20517297_ChIP-Seq_JURKAT_Human1.65208646
41FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.63882639
42STAT1_17558387_ChIP-Seq_HELA_Human1.63692284
43JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.62622349
44SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.60056994
45VDR_21846776_ChIP-Seq_THP-1_Human1.59965016
46CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.59389039
47RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.57378551
48SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.56974980
49CTCF_26484167_Chip-Seq_Bcells_Mouse1.56086376
50KAP1_22055183_ChIP-Seq_ESCs_Mouse1.55707141
51SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.53455150
52STAT1_20625510_ChIP-Seq_HELA_Human1.52630946
53EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.52417074
54WDR5_24793694_ChIP-Seq_LNCAP_Human1.52040128
55* ZNF274_21170338_ChIP-Seq_K562_Hela1.51149476
56DNAJC2_21179169_ChIP-ChIP_NT2_Human1.51089356
57PU.1_20513432_ChIP-Seq_Bcells_Mouse1.50460485
58PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.50273693
59* GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.50254409
60CTCF_27219007_Chip-Seq_ERYTHROID_Human1.48823686
61GATA3_21867929_ChIP-Seq_CD8_Mouse1.48677996
62SOX2_22085726_ChIP-Seq_NPCs_Mouse1.47452799
63MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.47082799
64CBX2_27304074_Chip-Seq_ESCs_Mouse1.45934061
65SA1_27219007_Chip-Seq_ERYTHROID_Human1.44454490
66TAL1_26923725_Chip-Seq_HPCs_Mouse1.44319760
67IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.44043226
68CBP_20019798_ChIP-Seq_JUKART_Human1.44043226
69PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.43745303
70KDM2B_26808549_Chip-Seq_REH_Human1.43541668
71NFE2_27457419_Chip-Seq_LIVER_Mouse1.40182694
72PCGF2_27294783_Chip-Seq_NPCs_Mouse1.38644892
73MAF_26560356_Chip-Seq_TH2_Human1.37968103
74PHF8_20622854_ChIP-Seq_HELA_Human1.37249210
75E2F1_20622854_ChIP-Seq_HELA_Human1.34893629
76E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.32484532
77BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.32390168
78MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.31902601
79LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.31717609
80LUZP1_20508642_ChIP-Seq_ESCs_Mouse1.31684648
81ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.31554179
82SA1_27219007_Chip-Seq_Bcells_Human1.29942399
83FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.28927967
84CTCF_27219007_Chip-Seq_Bcells_Human1.28732153
85SUZ12_27294783_Chip-Seq_NPCs_Mouse1.28281409
86LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.27473447
87ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.26664565
88FLI1_21867929_ChIP-Seq_TH2_Mouse1.26441941
89TET1_21490601_ChIP-Seq_MESCs_Mouse1.25850203
90FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.24973532
91TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.24966646
92TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.24799661
93EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.22893538
94SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.22427411
95REST_21632747_ChIP-Seq_MESCs_Mouse1.22379794
96GATA3_21867929_ChIP-Seq_TH1_Mouse1.21940108
97CTCF_20526341_ChIP-Seq_ESCs_Human1.21893032
98P53_21459846_ChIP-Seq_SAOS-2_Human1.21427117
99PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.20257775
100MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.20060080
101MAF_26560356_Chip-Seq_TH1_Human1.18124539
102ELF1_17652178_ChIP-ChIP_JURKAT_Human1.17916360
103SOX3_22085726_ChIP-Seq_MUSCLE_Mouse1.17771536
104FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.17703310
105CTCF_21964334_Chip-Seq_Bcells_Human1.17577685
106RARG_19884340_ChIP-ChIP_MEFs_Mouse1.17478265
107CRX_20693478_ChIP-Seq_RETINA_Mouse1.17455399
108SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.17213895
109GF1_26923725_Chip-Seq_HPCs_Mouse1.16413610
110CTBP2_25329375_ChIP-Seq_LNCAP_Human1.16181711
111CTCF_21964334_ChIP-Seq_BJAB-B_Human1.16078364
112SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.15753153
113P300_27268052_Chip-Seq_Bcells_Human1.14697164
114TBX5_21415370_ChIP-Seq_HL-1_Mouse1.14626977
115PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.14436989
116MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.14208823
117SRF_21415370_ChIP-Seq_HL-1_Mouse1.13964088
118UTX_26944678_Chip-Seq_JUKART_Human1.13847883
119YY1_21170310_ChIP-Seq_MESCs_Mouse1.13753186
120BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.13392091
121GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.11850970
122NANOG_18555785_Chip-Seq_ESCs_Mouse1.11066332
123ELK3_25401928_ChIP-Seq_HUVEC_Human1.10077060
124OCT4_18555785_Chip-Seq_ESCs_Mouse1.09908647
125POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.09699773
126TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09699773
127RUNX1_22412390_ChIP-Seq_EML_Mouse1.09293975
128CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.08887651
129CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.08532571
130EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.08090217
131DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.07832266
132TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06775008
133RACK7_27058665_Chip-Seq_MCF-7_Human1.06689596
134* RAD21_21589869_ChIP-Seq_MESCs_Mouse1.05211730
135SPI1_20517297_ChIP-Seq_HL60_Human1.05150041
136SPI1_26923725_Chip-Seq_HPCs_Mouse1.03781581
137ETS1_21867929_ChIP-Seq_TH2_Mouse1.03442833
138OCT4_21477851_ChIP-Seq_ESCs_Mouse1.02002632
139CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse1.01569357
140P53_22387025_ChIP-Seq_ESCs_Mouse1.01065010
141EZH2_27294783_Chip-Seq_NPCs_Mouse1.00865056
142PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.00265143
143KDM2B_26808549_Chip-Seq_SUP-B15_Human1.00050986
144ZFP57_27257070_Chip-Seq_ESCs_Mouse0.99993215
145EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.99990318
146EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.99930885
147* RUNX1_26923725_Chip-Seq_HPCs_Mouse0.99708834
148SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.99657244
149KLF4_18555785_Chip-Seq_ESCs_Mouse0.99652566
150EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.99611738
151SMC3_22415368_ChIP-Seq_MEFs_Mouse0.99477647
152P300_18555785_Chip-Seq_ESCs_Mouse0.99281376
153STAT4_19710469_ChIP-ChIP_TH1__Mouse0.99024437
154RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.98828630
155ERG_20517297_ChIP-Seq_VCAP_Human0.98759480
156ESR1_20079471_ChIP-ChIP_T-47D_Human0.98250221
157RXRA_24833708_ChIP-Seq_LIVER_Mouse0.97879418
158MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.97791790
159MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.97719416
160ESRRB_18555785_Chip-Seq_ESCs_Mouse0.97650048
161SOX2_21211035_ChIP-Seq_LN229_Human0.97632001
162THAP11_20581084_ChIP-Seq_MESCs_Mouse0.97533550
163ESET_19884257_ChIP-Seq_ESCs_Mouse0.97339272
164CMYC_18555785_Chip-Seq_ESCs_Mouse0.97233249
165TP63_22573176_ChIP-Seq_HFKS_Human0.96985146
166* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.96477732
167RNF2_27304074_Chip-Seq_NSC_Mouse0.95852691
168RARA_24833708_ChIP-Seq_LIVER_Mouse0.95535482
169SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.94548635
170SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.94259251
171GATA2_22383799_ChIP-Seq_G1ME_Mouse0.94151927
172MYC_18358816_ChIP-ChIP_MESCs_Mouse0.93896916
173* SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.93753898
174NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.93633817
175YY1_22570637_ChIP-Seq_MALME-3M_Human0.93056778
176ETS1_20019798_ChIP-Seq_JURKAT_Human0.92937441
177EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.92802424
178STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.92527798
179OCT4_19829295_ChIP-Seq_ESCs_Human0.92519299
180RXR_22158963_ChIP-Seq_LIVER_Mouse0.92490602
181CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.91431862
182LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.90868586
183FLI1_21867929_ChIP-Seq_CD8_Mouse0.90095836
184STAT3_18555785_Chip-Seq_ESCs_Mouse0.89028527
185PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.88933339
186SUZ12_18555785_Chip-Seq_ESCs_Mouse0.88674507
187* MYC_27129775_Chip-Seq_CORNEA_Mouse0.87162638
188NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.86502306
189GF1B_26923725_Chip-Seq_HPCs_Mouse0.86329414
190PU1_27457419_Chip-Seq_LIVER_Mouse0.86256343
191PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.85937401
192NFYB_21822215_ChIP-Seq_K562_Human0.85854237

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003698_abnormal_male_reproductive6.06283435
2MP0001929_abnormal_gametogenesis5.58591920
3MP0008877_abnormal_DNA_methylation4.91153110
4MP0002210_abnormal_sex_determination3.65495827
5MP0000751_myopathy3.42751213
6MP0004145_abnormal_muscle_electrophysio3.29190576
7MP0002161_abnormal_fertility/fecundity3.29061109
8MP0001145_abnormal_male_reproductive3.10527066
9MP0003806_abnormal_nucleotide_metabolis3.06638283
10MP0002653_abnormal_ependyma_morphology2.96021892
11MP0000653_abnormal_sex_gland2.70273748
12MP0000749_muscle_degeneration2.68722858
13MP0000013_abnormal_adipose_tissue2.54885479
14MP0005670_abnormal_white_adipose2.35457372
15MP0005330_cardiomyopathy2.11613689
16MP0004859_abnormal_synaptic_plasticity2.04859717
17MP0005410_abnormal_fertilization15.8636581
18MP0000747_muscle_weakness1.97557444
19MP0005623_abnormal_meninges_morphology1.94225448
20MP0002160_abnormal_reproductive_system1.84124197
21MP0005451_abnormal_body_composition1.77512082
22MP0000759_abnormal_skeletal_muscle1.67968845
23MP0002106_abnormal_muscle_physiology1.65200075
24MP0003763_abnormal_thymus_physiology1.63707146
25MP0002822_catalepsy1.59814435
26MP0001968_abnormal_touch/_nociception1.58737910
27MP0004130_abnormal_muscle_cell1.56823038
28MP0001905_abnormal_dopamine_level1.51016975
29MP0000003_abnormal_adipose_tissue1.49046195
30MP0004087_abnormal_muscle_fiber1.46979461
31MP0000750_abnormal_muscle_regeneration1.46658199
32MP0003646_muscle_fatigue1.45302441
33MP0003880_abnormal_central_pattern1.45020690
34MP0005646_abnormal_pituitary_gland1.43069980
35MP0003191_abnormal_cellular_cholesterol1.40667227
36MP0005369_muscle_phenotype1.40665428
37MP0002735_abnormal_chemical_nociception1.40116403
38MP0004233_abnormal_muscle_weight1.38936594
39MP0003075_altered_response_to1.37334880
40MP0002282_abnormal_trachea_morphology1.34580685
41MP0003656_abnormal_erythrocyte_physiolo1.31482489
42MP0009745_abnormal_behavioral_response1.28277707
43MP0009780_abnormal_chondrocyte_physiolo1.28235479
44MP0008569_lethality_at_weaning1.26219522
45MP0009046_muscle_twitch1.24295357
46MP0009333_abnormal_splenocyte_physiolog1.23193673
47MP0003635_abnormal_synaptic_transmissio1.23147146
48MP0002064_seizures1.19148660
49MP0001502_abnormal_circadian_rhythm1.16872682
50MP0001984_abnormal_olfaction1.16260643
51MP0002332_abnormal_exercise_endurance1.13216365
52MP0004270_analgesia1.12482312
53MP0002972_abnormal_cardiac_muscle1.09413311
54MP0008058_abnormal_DNA_repair1.09350109
55MP0008874_decreased_physiological_sensi1.08738934
56MP0005000_abnormal_immune_tolerance1.07441390
57MP0005620_abnormal_muscle_contractility1.06735048
58MP0002909_abnormal_adrenal_gland1.05930200
59MP0008057_abnormal_DNA_replication1.05432842
60MP0005058_abnormal_lysosome_morphology1.04259656
61MP0005647_abnormal_sex_gland1.02219344
62MP0008872_abnormal_physiological_respon1.00716231
63MP0005165_increased_susceptibility_to1.00705034
64MP0001765_abnormal_ion_homeostasis1.00207533
65MP0005671_abnormal_response_to0.99161616
66MP0005535_abnormal_body_temperature0.98184843
67MP0005375_adipose_tissue_phenotype0.98131266
68MP0005584_abnormal_enzyme/coenzyme_acti0.97984098
69MP0003436_decreased_susceptibility_to0.97229624
70MP0005464_abnormal_platelet_physiology0.96649614
71MP0001501_abnormal_sleep_pattern0.96191443
72MP0000678_abnormal_parathyroid_gland0.96043060
73MP0005389_reproductive_system_phenotype0.91473580
74MP0005166_decreased_susceptibility_to0.91214811
75MP0005387_immune_system_phenotype0.91163116
76MP0001790_abnormal_immune_system0.91163116
77MP0002734_abnormal_mechanical_nocicepti0.89728004
78MP0002272_abnormal_nervous_system0.89104034
79MP0003011_delayed_dark_adaptation0.89093990
80MP0004510_myositis0.86970010
81MP0002733_abnormal_thermal_nociception0.86552613
82MP0003724_increased_susceptibility_to0.86087584
83MP0008260_abnormal_autophagy0.84501841
84MP0002063_abnormal_learning/memory/cond0.83848729
85MP0003186_abnormal_redox_activity0.83397847
86MP0010094_abnormal_chromosome_stability0.83151391
87MP0006276_abnormal_autonomic_nervous0.82138520
88MP0008995_early_reproductive_senescence0.82075431
89MP0003137_abnormal_impulse_conducting0.80050365
90MP0003705_abnormal_hypodermis_morpholog0.79124337
91MP0002132_abnormal_respiratory_system0.77289334
92MP0002234_abnormal_pharynx_morphology0.77277848
93MP0002148_abnormal_hypersensitivity_rea0.75610490
94MP0004947_skin_inflammation0.74557179
95MP0002723_abnormal_immune_serum0.74147283
96MP0003878_abnormal_ear_physiology0.60049714
97MP0005377_hearing/vestibular/ear_phenot0.60049714
98MP0003115_abnormal_respiratory_system0.59487776
99MP0003950_abnormal_plasma_membrane0.59099709
100MP0000569_abnormal_digit_pigmentation0.55336802
101MP0000358_abnormal_cell_content/0.53649049
102MP0005636_abnormal_mineral_homeostasis0.53224686
103MP0002928_abnormal_bile_duct0.53140946
104MP0002102_abnormal_ear_morphology0.52288573
105MP0003786_premature_aging0.52117451
106MP0003699_abnormal_female_reproductive0.50697927
107MP0008007_abnormal_cellular_replicative0.47376971
108MP0005666_abnormal_adipose_tissue0.46249596
109MP0001545_abnormal_hematopoietic_system0.45374537
110MP0005397_hematopoietic_system_phenotyp0.45374537
111MP0003329_amyloid_beta_deposits0.44915306
112MP0001324_abnormal_eye_pigmentation0.44354882
113MP0009278_abnormal_bone_marrow0.43169209
114MP0004036_abnormal_muscle_relaxation0.41312827
115MP0001764_abnormal_homeostasis0.41113922
116MP0001293_anophthalmia0.40969748
117MP0002269_muscular_atrophy0.40898327
118MP0005551_abnormal_eye_electrophysiolog0.40508904
119MP0003111_abnormal_nucleus_morphology0.40022177
120MP0005253_abnormal_eye_physiology0.39450988
121MP0004133_heterotaxia0.37343575
122MP0001119_abnormal_female_reproductive0.36510560
123MP0006036_abnormal_mitochondrial_physio0.36177013
124MP0002139_abnormal_hepatobiliary_system0.35863799
125MP0004019_abnormal_vitamin_homeostasis0.35552139
126MP0005391_vision/eye_phenotype0.32542444
127MP0009115_abnormal_fat_cell0.32448308
128MP0002971_abnormal_brown_adipose0.32202326
129MP0001727_abnormal_embryo_implantation0.31817435
130MP0001730_embryonic_growth_arrest0.31454672
131MP0004808_abnormal_hematopoietic_stem0.29894113
132MP0010307_abnormal_tumor_latency0.28581404
133MP0003633_abnormal_nervous_system0.28559918
134MP0003861_abnormal_nervous_system0.27171507
135MP0004134_abnormal_chest_morphology0.26808650
136MP0008875_abnormal_xenobiotic_pharmacok0.25508023
137MP0004811_abnormal_neuron_physiology0.24401238
138MP0005365_abnormal_bile_salt0.24202019
139MP0002152_abnormal_brain_morphology0.24192267
140MP0003045_fibrosis0.23871952
141MP0000534_abnormal_ureter_morphology0.23219011
142MP0000604_amyloidosis0.22415174
143MP0003942_abnormal_urinary_system0.22301347
144MP0003879_abnormal_hair_cell0.22288133
145MP0003631_nervous_system_phenotype0.21139620
146MP0000313_abnormal_cell_death0.20488325
147MP0002084_abnormal_developmental_patter0.20416797
148MP0001851_eye_inflammation0.20162512
149MP0001661_extended_life_span0.19884228
150MP0003183_abnormal_peptide_metabolism0.18939925
151MP0006035_abnormal_mitochondrial_morpho0.18926436
152MP0002092_abnormal_eye_morphology0.18123700
153MP0002229_neurodegeneration0.16812626
154MP0002169_no_abnormal_phenotype0.16592817
155MP0002405_respiratory_system_inflammati0.16329305
156MP0002873_normal_phenotype0.16306988
157MP0000427_abnormal_hair_cycle0.15600841
158MP0008961_abnormal_basal_metabolism0.15520236
159MP0001986_abnormal_taste_sensitivity0.15125906
160MP0005195_abnormal_posterior_eye0.15018274
161MP0004742_abnormal_vestibular_system0.14853869
162MP0003948_abnormal_gas_homeostasis0.14503479
163MP0003787_abnormal_imprinting0.13999696
164MP0001697_abnormal_embryo_size0.13454700
165MP0005423_abnormal_somatic_nervous0.13345136
166MP0002736_abnormal_nociception_after0.12961833
167MP0000001_mammalian_phenotype0.12232785
168MP0005380_embryogenesis_phenotype0.11879163
169MP0001672_abnormal_embryogenesis/_devel0.11879163

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory motile cilium physiology (HP:0012261)9.51043489
2Abnormal respiratory epithelium morphology (HP:0012253)9.03117919
3Abnormal respiratory motile cilium morphology (HP:0005938)9.03117919
4Rhinitis (HP:0012384)7.97281957
5Abnormal ciliary motility (HP:0012262)7.61816921
6Chronic bronchitis (HP:0004469)7.40423994
7Nasal polyposis (HP:0100582)6.55153641
8Infertility (HP:0000789)6.45562597
9Exercise-induced myalgia (HP:0003738)5.53809730
10Abnormality of the nasal mucosa (HP:0000433)5.37216317
11Nemaline bodies (HP:0003798)5.16863624
12Muscle fiber inclusion bodies (HP:0100299)5.15437971
13Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.99598305
14Rhabdomyolysis (HP:0003201)4.90095246
15Bronchiectasis (HP:0002110)4.66474196
16Bronchitis (HP:0012387)4.60661061
17Nephronophthisis (HP:0000090)4.40725675
18Type 1 muscle fiber predominance (HP:0003803)4.01800259
19Myoglobinuria (HP:0002913)3.99484198
20Male infertility (HP:0003251)3.93038287
21Ragged-red muscle fibers (HP:0003200)3.78764544
22Increased muscle lipid content (HP:0009058)3.78489732
23Muscle stiffness (HP:0003552)3.65984070
24Abnormality of alanine metabolism (HP:0010916)3.60368995
25Hyperalaninemia (HP:0003348)3.60368995
26Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.60368995
27Recurrent sinusitis (HP:0011108)3.42986132
28Recurrent otitis media (HP:0000403)3.36666365
29Hyporeflexia of lower limbs (HP:0002600)3.35161791
30Muscle fiber splitting (HP:0003555)3.34769595
31EMG: myopathic abnormalities (HP:0003458)3.34019239
32Abnormality of the renal medulla (HP:0100957)3.34017527
33Abnormal spermatogenesis (HP:0008669)3.31130374
34Myopathic facies (HP:0002058)3.18091688
35Abnormality of skeletal muscle fiber size (HP:0012084)3.12582735
36Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.10759936
37Decreased activity of mitochondrial respiratory chain (HP:0008972)3.10759936
38Asymmetric septal hypertrophy (HP:0001670)3.08863112
39Increased intramyocellular lipid droplets (HP:0012240)3.04465151
40Elevated erythrocyte sedimentation rate (HP:0003565)2.98241216
41Bundle branch block (HP:0011710)2.91545409
42Centrally nucleated skeletal muscle fibers (HP:0003687)2.90461557
43Tubulointerstitial nephritis (HP:0001970)2.88102449
44Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.82472061
45Abnormality of the lower motor neuron (HP:0002366)2.79355460
46Exercise-induced muscle cramps (HP:0003710)2.76058581
47Increased variability in muscle fiber diameter (HP:0003557)2.74808634
48Recurrent bronchitis (HP:0002837)2.74152439
49Medial flaring of the eyebrow (HP:0010747)2.72791031
50Molar tooth sign on MRI (HP:0002419)2.69983191
51Abnormality of midbrain morphology (HP:0002418)2.69983191
52Distal lower limb muscle weakness (HP:0009053)2.68870371
53Tubular atrophy (HP:0000092)2.68257758
54Neck muscle weakness (HP:0000467)2.64987983
55Gonadotropin excess (HP:0000837)2.57674407
56Abnormality of fatty-acid metabolism (HP:0004359)2.56769237
57Mutism (HP:0002300)2.51959223
58Tubulointerstitial abnormality (HP:0001969)2.50191936
59Dicarboxylic aciduria (HP:0003215)2.47573537
60Abnormality of dicarboxylic acid metabolism (HP:0010995)2.47573537
61Progressive muscle weakness (HP:0003323)2.46377463
62Impulsivity (HP:0100710)2.43709695
63Azoospermia (HP:0000027)2.42408106
64Petechiae (HP:0000967)2.40671014
65Distal arthrogryposis (HP:0005684)2.40417329
66Cerebral hypomyelination (HP:0006808)2.40248554
67Sudden death (HP:0001699)2.32178640
68Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.31151856
69Amyotrophic lateral sclerosis (HP:0007354)2.29215831
70Round ear (HP:0100830)2.28370758
71Myokymia (HP:0002411)2.28328627
72Muscle hypertrophy of the lower extremities (HP:0008968)2.26578494
73Rimmed vacuoles (HP:0003805)2.24317173
74Focal motor seizures (HP:0011153)2.20214656
75Areflexia of lower limbs (HP:0002522)2.18689212
76Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.15247420
77Subaortic stenosis (HP:0001682)2.11154659
78Abnormality of the left ventricular outflow tract (HP:0011103)2.11154659
79Oligomenorrhea (HP:0000876)2.10504943
80Hepatocellular necrosis (HP:0001404)2.09901566
81Hepatic necrosis (HP:0002605)2.08459663
82Bulbar palsy (HP:0001283)2.08357923
83Fibular hypoplasia (HP:0003038)2.05558180
84EMG: neuropathic changes (HP:0003445)2.04125105
85Tubulointerstitial fibrosis (HP:0005576)2.03966777
86Postaxial foot polydactyly (HP:0001830)2.02993639
87Esophageal neoplasm (HP:0100751)2.01022062
88Neoplasm of head and neck (HP:0012288)2.01022062
89Abnormality of the fetal cardiovascular system (HP:0010948)2.00009675
90Abnormal umbilical cord blood vessels (HP:0011403)2.00009675
91Single umbilical artery (HP:0001195)2.00009675
92Respiratory insufficiency due to defective ciliary clearance (HP:0200073)13.6405208
93Dynein arm defect of respiratory motile cilia (HP:0012255)12.9481941
94Absent/shortened dynein arms (HP:0200106)12.9481941
95Visual hallucinations (HP:0002367)1.98840211
96Exercise intolerance (HP:0003546)1.98729019
97Stage 5 chronic kidney disease (HP:0003774)1.96670918
98Abnormal gallbladder physiology (HP:0012438)1.95950715
99Cholecystitis (HP:0001082)1.95950715
100Abnormality of aromatic amino acid family metabolism (HP:0004338)1.95879857
101Heart block (HP:0012722)1.95266683
102Abnormal atrioventricular conduction (HP:0005150)1.94024404
103Rapidly progressive (HP:0003678)1.92136607
104Lipid accumulation in hepatocytes (HP:0006561)1.90711541
105Myotonia (HP:0002486)1.90637195
106Weak cry (HP:0001612)1.90305380
107Congenital hepatic fibrosis (HP:0002612)1.90096176
108Delusions (HP:0000746)1.89559658
109Hyperlipoproteinemia (HP:0010980)1.89025023
110Lactic acidosis (HP:0003128)1.88035067
111Hypoplasia of the capital femoral epiphysis (HP:0003090)1.87763286
112Abnormal drinking behavior (HP:0030082)1.87104355
113Polydipsia (HP:0001959)1.87104355
114Abnormality of the calf musculature (HP:0001430)1.84641276
115Ulnar deviation of the wrist (HP:0003049)1.84634860
116Abnormal pupillary function (HP:0007686)1.82613862
117Agammaglobulinemia (HP:0004432)1.81916715
118Testicular atrophy (HP:0000029)1.81791424
119Microvesicular hepatic steatosis (HP:0001414)1.80646882
120Gowers sign (HP:0003391)1.80396977
121Abnormality of the renal cortex (HP:0011035)1.80126932
122Degeneration of the lateral corticospinal tracts (HP:0002314)1.79526498
123Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.79526498
124Dilated cardiomyopathy (HP:0001644)1.79264092
125Respiratory insufficiency due to muscle weakness (HP:0002747)1.78607371
126Impaired proprioception (HP:0010831)1.78331695
127Spontaneous hematomas (HP:0007420)1.77300695
128Paralysis (HP:0003470)1.76928808
129Short ribs (HP:0000773)1.75701558
130Insulin-resistant diabetes mellitus (HP:0000831)1.74885796
131Chronic sinusitis (HP:0011109)1.74564216
132Spastic tetraparesis (HP:0001285)1.73063812
133Progressive external ophthalmoplegia (HP:0000590)1.72961909
134Oculomotor apraxia (HP:0000657)1.72447437
135Increased serum lactate (HP:0002151)1.72176680
136Increased connective tissue (HP:0009025)1.72105735
137Ventricular fibrillation (HP:0001663)1.71998440
138Rigidity (HP:0002063)1.71476813
139Ankle clonus (HP:0011448)1.71069773
140Difficulty climbing stairs (HP:0003551)1.70159341
141Mitochondrial inheritance (HP:0001427)1.69713325
142Neuronal loss in central nervous system (HP:0002529)1.69376002
143Intention tremor (HP:0002080)1.68544493
144Renal dysplasia (HP:0000110)1.68390812
145Decreased subcutaneous fat (HP:0001002)1.67405535
146Microglossia (HP:0000171)1.67245150
147Abnormality of glycolysis (HP:0004366)1.66670990
148Upper motor neuron abnormality (HP:0002127)1.65477486
149Episodic fever (HP:0001954)1.65101043
150Dyschromatopsia (HP:0007641)1.65037100
151Heterotopia (HP:0002282)1.64722442
152Facial cleft (HP:0002006)1.61182167
153Postaxial hand polydactyly (HP:0001162)1.60311209
154Absent frontal sinuses (HP:0002688)1.57806537
155Abnormality of renal excretion (HP:0011036)1.57454462
156Abnormality of dentin (HP:0010299)1.56817675
157Congenital primary aphakia (HP:0007707)1.56338868
158Gait imbalance (HP:0002141)1.56184827
159Abnormality of permanent molar morphology (HP:0011071)1.54840166
160Abnormality of the dental root (HP:0006486)1.54840166
161Taurodontia (HP:0000679)1.54840166
162J-shaped sella turcica (HP:0002680)1.50781804
163Bile duct proliferation (HP:0001408)1.49032015
164Abnormal biliary tract physiology (HP:0012439)1.49032015
165Bell-shaped thorax (HP:0001591)1.48704415
166Decreased central vision (HP:0007663)1.47780318
167Median cleft lip (HP:0000161)1.47686620
168Absent epiphyses (HP:0010577)1.47681343
169Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.47681343
170Supernumerary spleens (HP:0009799)1.46356850
171Abnormality of molar (HP:0011077)1.45678411
172Abnormality of molar morphology (HP:0011070)1.45678411
173Aplasia/Hypoplasia of the lens (HP:0008063)1.42803981
174Abnormality of the dental pulp (HP:0006479)1.40871365
175Cystic liver disease (HP:0006706)1.38293534
176Abnormality of ocular smooth pursuit (HP:0000617)1.35816410
177Deformed sella turcica (HP:0002681)1.34297897
178Pancreatic fibrosis (HP:0100732)1.34250099
179Short thorax (HP:0010306)1.34249682
180Choroideremia (HP:0001139)1.33884757
181Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.32848116
182Abnormality of the anterior horn cell (HP:0006802)1.32102454
183Degeneration of anterior horn cells (HP:0002398)1.32102454
184Aplasia/Hypoplasia of the tongue (HP:0010295)1.31044735
185Nephrogenic diabetes insipidus (HP:0009806)1.30740158
186Abnormality of saccadic eye movements (HP:0000570)1.30339451
187Abnormal urine output (HP:0012590)1.30229168
188Nephropathy (HP:0000112)1.27698063
189Cerebellar dysplasia (HP:0007033)1.25647061
190Neurofibrillary tangles (HP:0002185)1.24142578
191Broad distal phalanx of finger (HP:0009836)1.23729641
192Aplasia/Hypoplasia of the fibula (HP:0006492)1.22765077
193Easy fatigability (HP:0003388)1.20512148
194Genital tract atresia (HP:0001827)1.19539192
195Short femoral neck (HP:0100864)1.19295909
196Poor coordination (HP:0002370)1.18290796
197Vaginal atresia (HP:0000148)1.17290820
198Hemorrhage of the eye (HP:0011885)1.15938140

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK38.61501561
2PDK48.61501561
3PDK25.55570703
4TESK15.49075821
5ERN14.58477430
6PRKD34.36406920
7ICK3.92892502
8OBSCN3.21840172
9BCKDK3.21009201
10CDK192.64369198
11PTK2B2.55119267
12TBK12.48007076
13STK392.37440984
14WNK42.36951527
15TTN2.30557673
16LIMK12.30418956
17PHKG22.28079288
18PHKG12.28079288
19ARAF2.27964297
20PNCK2.20137250
21SCYL22.05913185
22PIM21.95267589
23MAP3K111.94095818
24MAP2K31.80841494
25NEK21.80363168
26MAP3K31.76074746
27VRK21.64196412
28STK381.62284239
29MAP2K21.55815928
30MAPKAPK31.50658438
31GRK51.46242245
32MAPK121.44350398
33IKBKE1.31032389
34DAPK11.30713088
35DAPK21.30404972
36CAMK2G1.27542331
37KDR1.25345431
38EPHA41.23526673
39DYRK1B1.20375407
40TAOK21.13751921
41MAP3K121.12232758
42MOS1.04075782
43MAPK151.03655226
44PDK11.02015729
45MYLK1.01107825
46PRPF4B0.99096181
47WNK10.97077883
48MAP4K10.94420495
49TYRO30.92744361
50PIK3CG0.92703547
51CAMK2B0.86199250
52CAMK10.85712241
53DAPK30.80902271
54IRAK10.80319788
55CCNB10.80035794
56STK30.79222506
57MAP2K10.77722385
58PASK0.76068432
59DYRK30.69287277
60TTK0.69013342
61TNK20.68768374
62FES0.68067763
63MST1R0.65652367
64CAMK2D0.65619305
65UHMK10.64880329
66ABL20.64202829
67MAP4K20.64157782
68TESK20.63813587
69CHEK20.62803441
70PINK10.61133838
71VRK10.60427005
72CAMKK20.60000085
73CDC70.58067151
74WEE10.56154574
75LMTK20.53737291
76MAPK70.53099801
77MAP3K10.52880329
78SYK0.52495248
79CAMK1G0.51865930
80CDK50.51357390
81PDPK10.50860860
82GRK60.49683418
83JAK30.49395101
84TYK20.47835947
85CHEK10.47266024
86NEK10.46775454
87EEF2K0.46195751
88GRK70.45017862
89IRAK20.44072871
90PLK40.42853691
91ITK0.42138267
92ADRBK10.42006814
93RPS6KB20.38708809
94ATR0.38302065
95PRKD10.38042484
96RIPK40.37895530
97RAF10.37838740
98MAP2K60.37091693
99IKBKB0.36958568
100CDK90.36794581
101STK38L0.36743770
102AKT20.35970856
103NTRK20.33633750
104PAK10.33004845
105MAPK40.32814084
106JAK10.32601054
107MAPKAPK20.32439394
108ATM0.32133610
109MAPK130.31851393
110PRKCG0.31482864
111DYRK1A0.31235590
112RPS6KA50.29868996
113MTOR0.28935946
114PAK20.28861813
115ROCK10.28839076
116MAPK30.28052681
117NEK90.27677745
118CDK120.26919953
119MUSK0.26664894
120PRKCH0.26650558
121WNK30.25999670
122KIT0.25629295
123BRSK20.24429536
124NEK60.22073386
125MAPKAPK50.21356167
126MARK20.21026436
127PRKAA10.19060640
128CAMKK10.18753699
129PLK10.18709193
130RPS6KB10.16731177
131PRKCQ0.12225339
132MAP3K100.11331133
133PAK40.10973957
134CSF1R0.10769057
135PRKCZ0.10169001
136STK110.09333237
137BRSK10.08419219
138CSNK2A10.06620465
139CDK150.06158095
140CSNK1D0.06146304
141PKN10.05726953
142PRKG10.05354691
143GSK3B0.05168379
144CDK10.04857416
145MARK30.04805028
146ZAP700.04790835
147PDGFRB0.04453916
148CDK20.04423391
149RPS6KA10.04419531
150CSNK2A20.04383914
151BRAF0.03666855
152PAK60.03655289
153CDK180.03503323
154PRKACG0.03389082
155STK100.03200921
156CDK11A0.02992542
157EGFR0.02910781
158MAPK80.02844472
159PRKCB0.02042999
160BMPR1B0.02042118
161PRKDC0.01896974
162MAP3K40.01503999
163PRKG20.01266462
164CDK60.01240584
165CAMK2A0.01201774
166BLK0.00863463
167CDK140.00153938
168RIPK1-0.0207692
169CDK4-0.0166248
170CDK3-0.0152964
171PRKCA-0.0127282
172PRKACB-0.0112684
173AURKA-0.0047846
174YES1-0.0010410

Predicted pathways (KEGG)

RankGene SetZ-score
1Sulfur relay system_Homo sapiens_hsa041224.58916634
2Vitamin B6 metabolism_Homo sapiens_hsa007504.35703382
3Glycolysis / Gluconeogenesis_Homo sapiens_hsa000104.28845804
4Pyruvate metabolism_Homo sapiens_hsa006203.99206748
5Fatty acid biosynthesis_Homo sapiens_hsa000613.85677061
6Propanoate metabolism_Homo sapiens_hsa006403.19012066
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.91587437
82-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.87264261
9alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.84888336
10Linoleic acid metabolism_Homo sapiens_hsa005912.76939550
11Basal transcription factors_Homo sapiens_hsa030222.75451216
12Glucagon signaling pathway_Homo sapiens_hsa049222.72406721
13Selenocompound metabolism_Homo sapiens_hsa004502.44684880
14Pentose phosphate pathway_Homo sapiens_hsa000302.34940445
15Folate biosynthesis_Homo sapiens_hsa007902.11226721
16Glycerolipid metabolism_Homo sapiens_hsa005612.07566554
17Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.01414566
18Dorso-ventral axis formation_Homo sapiens_hsa043201.97242508
19Primary immunodeficiency_Homo sapiens_hsa053401.95044373
20Carbohydrate digestion and absorption_Homo sapiens_hsa049731.93406877
21Fanconi anemia pathway_Homo sapiens_hsa034601.92923598
22Fatty acid elongation_Homo sapiens_hsa000621.88241560
23Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.86023660
24Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.85553415
25PPAR signaling pathway_Homo sapiens_hsa033201.83004544
26Parkinsons disease_Homo sapiens_hsa050121.82597327
27Phenylalanine metabolism_Homo sapiens_hsa003601.81800380
28Oocyte meiosis_Homo sapiens_hsa041141.77909979
29Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.68957244
30Viral myocarditis_Homo sapiens_hsa054161.62475435
31Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.60779487
32Glycosaminoglycan degradation_Homo sapiens_hsa005311.60772833
33Oxidative phosphorylation_Homo sapiens_hsa001901.60437963
34Glycerophospholipid metabolism_Homo sapiens_hsa005641.58232240
35Regulation of autophagy_Homo sapiens_hsa041401.53882583
36Amphetamine addiction_Homo sapiens_hsa050311.52030484
37Cysteine and methionine metabolism_Homo sapiens_hsa002701.51313079
38Huntingtons disease_Homo sapiens_hsa050161.50499428
39Fructose and mannose metabolism_Homo sapiens_hsa000511.49580372
40Carbon metabolism_Homo sapiens_hsa012001.44440310
41Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.43508124
42Fat digestion and absorption_Homo sapiens_hsa049751.35690513
43Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.35412729
44Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.34215622
45Ether lipid metabolism_Homo sapiens_hsa005651.29712848
46Cardiac muscle contraction_Homo sapiens_hsa042601.24726353
47Allograft rejection_Homo sapiens_hsa053301.24291164
48Sulfur metabolism_Homo sapiens_hsa009201.20817774
49Dilated cardiomyopathy_Homo sapiens_hsa054141.19638175
50Fatty acid metabolism_Homo sapiens_hsa012121.17874006
51GABAergic synapse_Homo sapiens_hsa047271.17351996
52Vibrio cholerae infection_Homo sapiens_hsa051101.17080165
53Alzheimers disease_Homo sapiens_hsa050101.15824936
54Rheumatoid arthritis_Homo sapiens_hsa053231.15705054
55Autoimmune thyroid disease_Homo sapiens_hsa053201.15076235
56Renin secretion_Homo sapiens_hsa049241.14872502
57Cyanoamino acid metabolism_Homo sapiens_hsa004601.14596647
58Mineral absorption_Homo sapiens_hsa049781.13314161
59mRNA surveillance pathway_Homo sapiens_hsa030151.13284183
60Antigen processing and presentation_Homo sapiens_hsa046121.13117788
61Fatty acid degradation_Homo sapiens_hsa000711.13102837
62Graft-versus-host disease_Homo sapiens_hsa053321.12710035
63SNARE interactions in vesicular transport_Homo sapiens_hsa041301.08669118
64Type I diabetes mellitus_Homo sapiens_hsa049401.07896959
65Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.07709110
66Peroxisome_Homo sapiens_hsa041461.06541100
67Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.05966211
68Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.04122478
69Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.02290703
70RNA transport_Homo sapiens_hsa030131.00387507
71Morphine addiction_Homo sapiens_hsa050320.99296103
72Biosynthesis of amino acids_Homo sapiens_hsa012300.96394752
73Purine metabolism_Homo sapiens_hsa002300.95493024
74Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.95209781
75Intestinal immune network for IgA production_Homo sapiens_hsa046720.94735530
76Nicotine addiction_Homo sapiens_hsa050330.91255673
77Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.90779341
78Glutathione metabolism_Homo sapiens_hsa004800.89855932
79Aldosterone synthesis and secretion_Homo sapiens_hsa049250.88886086
80ABC transporters_Homo sapiens_hsa020100.85564239
81Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.82231918
82Oxytocin signaling pathway_Homo sapiens_hsa049210.81716334
83Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.79619186
84Chemical carcinogenesis_Homo sapiens_hsa052040.79441495
85beta-Alanine metabolism_Homo sapiens_hsa004100.78699097
86Renin-angiotensin system_Homo sapiens_hsa046140.74317827
87Circadian rhythm_Homo sapiens_hsa047100.73662052
88Tyrosine metabolism_Homo sapiens_hsa003500.73534449
89Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.71797188
90Arachidonic acid metabolism_Homo sapiens_hsa005900.71632022
91Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.70419357
92Long-term potentiation_Homo sapiens_hsa047200.70302220
93Cholinergic synapse_Homo sapiens_hsa047250.69485203
94Systemic lupus erythematosus_Homo sapiens_hsa053220.67967659
95Dopaminergic synapse_Homo sapiens_hsa047280.67930830
96Estrogen signaling pathway_Homo sapiens_hsa049150.67101536
97Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.65164253
98Arginine biosynthesis_Homo sapiens_hsa002200.64257531
99Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.64113153
100Galactose metabolism_Homo sapiens_hsa000520.63857430
101Hedgehog signaling pathway_Homo sapiens_hsa043400.62874927
102Olfactory transduction_Homo sapiens_hsa047400.59879789
103Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.59392881
104Asthma_Homo sapiens_hsa053100.59366080
105Bile secretion_Homo sapiens_hsa049760.59173478
106Adipocytokine signaling pathway_Homo sapiens_hsa049200.58928414
107cGMP-PKG signaling pathway_Homo sapiens_hsa040220.57461800
108Central carbon metabolism in cancer_Homo sapiens_hsa052300.54041975
109Insulin secretion_Homo sapiens_hsa049110.53648236
110Collecting duct acid secretion_Homo sapiens_hsa049660.52271267
111Legionellosis_Homo sapiens_hsa051340.51260428
112Arginine and proline metabolism_Homo sapiens_hsa003300.50972634
113Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.50077230
114Calcium signaling pathway_Homo sapiens_hsa040200.49871463
115Thyroid hormone synthesis_Homo sapiens_hsa049180.49533220
116Phagosome_Homo sapiens_hsa041450.48468694
117Endocytosis_Homo sapiens_hsa041440.47268822
118Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.44443977
119Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.44022412
120N-Glycan biosynthesis_Homo sapiens_hsa005100.43702879
121AMPK signaling pathway_Homo sapiens_hsa041520.41167388
122Phosphatidylinositol signaling system_Homo sapiens_hsa040700.40840713
123Base excision repair_Homo sapiens_hsa034100.40633197
124Taste transduction_Homo sapiens_hsa047420.40292490
125Metabolic pathways_Homo sapiens_hsa011000.39526149
126Glutamatergic synapse_Homo sapiens_hsa047240.39173841
127Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.35820633
128Inositol phosphate metabolism_Homo sapiens_hsa005620.34922302
129Pentose and glucuronate interconversions_Homo sapiens_hsa000400.33846912
130Pancreatic secretion_Homo sapiens_hsa049720.33755063
131VEGF signaling pathway_Homo sapiens_hsa043700.33733150
132Protein digestion and absorption_Homo sapiens_hsa049740.32794292
133Vascular smooth muscle contraction_Homo sapiens_hsa042700.30060543
134Serotonergic synapse_Homo sapiens_hsa047260.29695222
135Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.29483453
136Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.25566324
137Alcoholism_Homo sapiens_hsa050340.24030143
138Retinol metabolism_Homo sapiens_hsa008300.23834890
139cAMP signaling pathway_Homo sapiens_hsa040240.21970317
140Gastric acid secretion_Homo sapiens_hsa049710.21641667
141Synaptic vesicle cycle_Homo sapiens_hsa047210.21439884
142Salivary secretion_Homo sapiens_hsa049700.21189902
143Homologous recombination_Homo sapiens_hsa034400.20431080
144Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.20214116
145B cell receptor signaling pathway_Homo sapiens_hsa046620.19014832
146Pyrimidine metabolism_Homo sapiens_hsa002400.18177488
147Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.17434717
148Thyroid hormone signaling pathway_Homo sapiens_hsa049190.15506402
149Wnt signaling pathway_Homo sapiens_hsa043100.14201584
150Circadian entrainment_Homo sapiens_hsa047130.13487978
151Viral carcinogenesis_Homo sapiens_hsa052030.12952407
152Cocaine addiction_Homo sapiens_hsa050300.11634088
153Salmonella infection_Homo sapiens_hsa051320.10944440
154Complement and coagulation cascades_Homo sapiens_hsa046100.08810825

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